Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.760962G>ACA2651546387SLC52A3c.*688C>T (n.*688C>T)
c.968C>T (p.Thr323Ile)
c.*64C>T (n.*64C>T)
 gnomAD v4
20g.760962G>CCA2345347998SLC52A3c.*688C>G (n.*688C>G)
c.968C>G (p.Thr323Arg)
c.*64C>G (n.*64C>G)
 dbSNP gnomAD v4
20g.760962G=CA2345347997SLC52A3c.*688C= (n.*688C=)
c.968C= (p.Thr323=)
c.*64C= (n.*64C=)
20g.760964G>TCA2651546388SLC52A3c.*686C>A (n.*686C>A)
c.966C>A (p.Val322=)
c.*62C>A (n.*62C>A)
 gnomAD v4
20g.760965A=CA2345347999SLC52A3c.*685T= (n.*685T=)
c.965T= (p.Val322=)
c.*61T= (n.*61T=)
20g.760965A>CCA2345348000SLC52A3c.*685T>G (n.*685T>G)
c.965T>G (p.Val322Gly)
c.*61T>G (n.*61T>G)
 dbSNP
20g.760965A>GCA2651546389SLC52A3c.*685T>C (n.*685T>C)
c.965T>C (p.Val322Ala)
c.*61T>C (n.*61T>C)
 gnomAD v4
20g.760966C=CA2345348001SLC52A3c.*684G= (n.*684G=)
c.964G= (p.Val322=)
c.*60G= (n.*60G=)
20g.760966C>TCA310673846SLC52A3c.*684G>A (n.*684G>A)
c.964G>A (p.Val322Ile)
c.*60G>A (n.*60G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.760968T>CCA2651546390SLC52A3c.*682A>G (n.*682A>G)
c.962A>G (p.Gln321Arg)
c.*58A>G (n.*58A>G)
 gnomAD v4
20g.760969G>TCA2651546391SLC52A3c.*681C>A (n.*681C>A)
c.961C>A (p.Gln321Lys)
c.*57C>A (n.*57C>A)
 dbSNP gnomAD v4
20g.760970delCA2651546392SLC52A3c.*681del (n.*681del)
c.961del (p.Gln321ArgfsTer14)
c.*57del (n.*57del)
 gnomAD v4
20g.760970G>ACA2651546393SLC52A3c.*680C>T (n.*680C>T)
c.960C>T (p.Gly320=)
c.*56C>T (n.*56C>T)
 gnomAD v4
20g.760970G>TCA2651546394SLC52A3c.*680C>A (n.*680C>A)
c.960C>A (p.Gly320=)
c.*56C>A (n.*56C>A)
 gnomAD v4
20g.760971C>ACA2651546395SLC52A3c.*679G>T (n.*679G>T)
c.959G>T (p.Gly320Val)
c.*55G>T (n.*55G>T)
 gnomAD v4
20g.760971C=CA2345348002SLC52A3c.*679G= (n.*679G=)
c.959G= (p.Gly320=)
c.*55G= (n.*55G=)
20g.760971C>TCA634326130SLC52A3c.*679G>A (n.*679G>A)
c.959G>A (p.Gly320Asp)
c.*55G>A (n.*55G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.760972C=CA2345348003SLC52A3c.*678G= (n.*678G=)
c.958G= (p.Gly320=)
c.*54G= (n.*54G=)
20g.760972C>TCA2345348004SLC52A3c.*678G>A (n.*678G>A)
c.958G>A (p.Gly320Ser)
c.*54G>A (n.*54G>A)
 dbSNP gnomAD v4
20g.760974C>TCA2651546396SLC52A3c.*676G>A (n.*676G>A)
c.956G>A (p.Arg319Lys)
c.*52G>A (n.*52G>A)
 gnomAD v4
20g.760975T>ACA2651546397SLC52A3c.*675A>T (n.*675A>T)
c.955A>T (p.Arg319Ter)
c.*51A>T (n.*51A>T)
 gnomAD v4
20g.760976C>ACA2651546398SLC52A3c.*674G>T (n.*674G>T)
c.954G>T (p.Gln318His)
c.*50G>T (n.*50G>T)
 gnomAD v4
20g.760976C=CA2345348005SLC52A3c.*674G= (n.*674G=)
c.954G= (p.Gln318=)
c.*50G= (n.*50G=)
20g.760976C>TCA2345348006SLC52A3c.*674G>A (n.*674G>A)
c.954G>A (p.Gln318=)
c.*50G>A (n.*50G>A)
 dbSNP
20g.760977T>CCA2651546399SLC52A3c.*673A>G (n.*673A>G)
c.953A>G (p.Gln318Arg)
c.*49A>G (n.*49A>G)
 gnomAD v4
20g.760979delCA2577315050SLC52A3c.*672del (n.*672del)
c.952del (p.Gln318ArgfsTer17)
c.*48del (n.*48del)
 gnomAD v4
20g.760979G>ACA2651546400SLC52A3c.*671C>T (n.*671C>T)
c.951C>T (p.Val317=)
c.*47C>T (n.*47C>T)
 gnomAD v4
20g.760980A=CA2345348007SLC52A3c.*670T= (n.*670T=)
c.950T= (p.Val317=)
c.*46T= (n.*46T=)
20g.760980A>CCA2345348008SLC52A3c.*670T>G (n.*670T>G)
c.950T>G (p.Val317Gly)
c.*46T>G (n.*46T>G)
 dbSNP
20g.760980A>GCA2651546401SLC52A3c.*670T>C (n.*670T>C)
c.950T>C (p.Val317Ala)
c.*46T>C (n.*46T>C)
 gnomAD v4
20g.760981C>ACA2651546402SLC52A3c.*669G>T (n.*669G>T)
c.949G>T (p.Val317Phe)
c.*45G>T (n.*45G>T)
 gnomAD v4
20g.760981C=CA2345348009SLC52A3c.*669G= (n.*669G=)
c.949G= (p.Val317=)
c.*45G= (n.*45G=)
20g.760981C>GCA2651546403SLC52A3c.*669G>C (n.*669G>C)
c.949G>C (p.Val317Leu)
c.*45G>C (n.*45G>C)
 gnomAD v4
20g.760981C>TCA9724492SLC52A3c.*669G>A (n.*669G>A)
c.949G>A (p.Val317Ile)
c.*45G>A (n.*45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.760982C>ACA634326131SLC52A3c.*668G>T (n.*668G>T)
c.948G>T (p.Gly316=)
c.*44G>T (n.*44G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.760982C=CA2345348010SLC52A3c.*668G= (n.*668G=)
c.948G= (p.Gly316=)
c.*44G= (n.*44G=)
20g.760982C>TCA2651546404SLC52A3c.*668G>A (n.*668G>A)
c.948G>A (p.Gly316=)
c.*44G>A (n.*44G>A)
 gnomAD v4
20g.760983C>ACA2651546405SLC52A3c.*667G>T (n.*667G>T)
c.947G>T (p.Gly316Val)
c.*43G>T (n.*43G>T)
 gnomAD v4
20g.760983C=CA2345348011SLC52A3c.*667G= (n.*667G=)
c.947G= (p.Gly316=)
c.*43G= (n.*43G=)
20g.760983C>GCA2736162784SLC52A3c.*667G>C (n.*667G>C)
c.947G>C (p.Gly316Ala)
c.*43G>C (n.*43G>C)
 dbSNP
20g.760983C>TCA2345348012SLC52A3c.*667G>A (n.*667G>A)
c.947G>A (p.Gly316Glu)
c.*43G>A (n.*43G>A)
 dbSNP gnomAD v4
20g.760984C>ACA2651546406SLC52A3c.*666G>T (n.*666G>T)
c.946G>T (p.Gly316Trp)
c.*42G>T (n.*42G>T)
 gnomAD v4
20g.760984C>TCA2651546407SLC52A3c.*666G>A (n.*666G>A)
c.946G>A (p.Gly316Arg)
c.*42G>A (n.*42G>A)
 gnomAD v4
20g.760985A=CA2345348013SLC52A3c.*665T= (n.*665T=)
c.945T= (p.Thr315=)
c.*41T= (n.*41T=)
20g.760985A>GCA634326132SLC52A3c.*665T>C (n.*665T>C)
c.945T>C (p.Thr315=)
c.*41T>C (n.*41T>C)
 dbSNP gnomAD v2 gnomAD v4
20g.760985A>TCA2345348014SLC52A3c.*665T>A (n.*665T>A)
c.945T>A (p.Thr315=)
c.*41T>A (n.*41T>A)
 dbSNP
20g.760986G>CCA310673866SLC52A3c.*664C>G (n.*664C>G)
c.944C>G (p.Thr315Ser)
c.*40C>G (n.*40C>G)
 dbSNP gnomAD v4
20g.760986G=CA2345348015SLC52A3c.*664C= (n.*664C=)
c.944C= (p.Thr315=)
c.*40C= (n.*40C=)
20g.760986G>TCA2651546408SLC52A3c.*664C>A (n.*664C>A)
c.944C>A (p.Thr315Asn)
c.*40C>A (n.*40C>A)
 gnomAD v4
20g.760987T>CCA1014677273SLC52A3c.*663A>G (n.*663A>G)
c.943A>G (p.Thr315Ala)
c.*39A>G (n.*39A>G)
 dbSNP gnomAD v3 gnomAD v4
20g.760987T=CA2345348016SLC52A3c.*663A= (n.*663A=)
c.943A= (p.Thr315=)
c.*39A= (n.*39A=)
20g.760989C>ACA2651546409SLC52A3c.*661G>T (n.*661G>T)
c.941G>T (p.Gly314Val)
c.*37G>T (n.*37G>T)
 gnomAD v4
20g.760989C>TCA2651546410SLC52A3c.*661G>A (n.*661G>A)
c.941G>A (p.Gly314Glu)
c.*37G>A (n.*37G>A)
 gnomAD v4
20g.760990C>ACA2651546411SLC52A3c.*660G>T (n.*660G>T)
c.940G>T (p.Gly314Ter)
c.*36G>T (n.*36G>T)
 gnomAD v4
20g.760990C>GCA2651546412SLC52A3c.*660G>C (n.*660G>C)
c.940G>C (p.Gly314Arg)
c.*36G>C (n.*36G>C)
 gnomAD v4
20g.760990C>TCA2651546413SLC52A3c.*660G>A (n.*660G>A)
c.940G>A (p.Gly314Arg)
c.*36G>A (n.*36G>A)
 gnomAD v4
20g.760991G>ACA2589543541SLC52A3c.*659C>T (n.*659C>T)
c.939C>T (p.Asp313=)
c.*35C>T (n.*35C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.760991G>CCA2815001719SLC52A3c.*659C>G (n.*659C>G)
c.939C>G (p.Asp313Glu)
c.*35C>G (n.*35C>G)
20g.760991G>TCA2651546414SLC52A3c.*659C>A (n.*659C>A)
c.939C>A (p.Asp313Glu)
c.*35C>A (n.*35C>A)
 gnomAD v4
20g.760992T>CCA9724493SLC52A3c.*658A>G (n.*658A>G)
c.938A>G (p.Asp313Gly)
c.*34A>G (n.*34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.760992T=CA2345348017SLC52A3c.*658A= (n.*658A=)
c.938A= (p.Asp313=)
c.*34A= (n.*34A=)
20g.760993C>ACA634326133SLC52A3c.*657G>T (n.*657G>T)
c.937G>T (p.Asp313Tyr)
c.*33G>T (n.*33G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.760993C=CA2345348018SLC52A3c.*657G= (n.*657G=)
c.937G= (p.Asp313=)
c.*33G= (n.*33G=)
20g.760993C>TCA634326134SLC52A3c.*657G>A (n.*657G>A)
c.937G>A (p.Asp313Asn)
c.*33G>A (n.*33G>A)
 dbSNP gnomAD v2
20g.760994C>ACA746663236SLC52A3c.*656G>T (n.*656G>T)
c.936G>T (p.Thr312=)
c.*32G>T (n.*32G>T)
 dbSNP gnomAD v4
20g.760994C=CA2345348019SLC52A3c.*656G= (n.*656G=)
c.936G= (p.Thr312=)
c.*32G= (n.*32G=)
20g.760994C>TCA2651546415SLC52A3c.*656G>A (n.*656G>A)
c.936G>A (p.Thr312=)
c.*32G>A (n.*32G>A)
 gnomAD v4
20g.760995G>ACA2651546416SLC52A3c.*655C>T (n.*655C>T)
c.935C>T (p.Thr312Met)
c.*31C>T (n.*31C>T)
 gnomAD v4
20g.760995G=CA2345348020SLC52A3c.*655C= (n.*655C=)
c.935C= (p.Thr312=)
c.*31C= (n.*31C=)
20g.760995G>TCA634326135SLC52A3c.*655C>A (n.*655C>A)
c.935C>A (p.Thr312Lys)
c.*31C>A (n.*31C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.760996_760997delCA2577315051SLC52A3c.*654_*655del (n.*654_*655del)
c.934_935del (p.Thr312GlyfsTer24)
c.*30_*31del (n.*30_*31del)
20g.760997G>ACA9724494SLC52A3c.*653C>T (n.*653C>T)
c.933C>T (p.Leu311=)
c.*29C>T (n.*29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.760997G=CA2345348021SLC52A3c.*653C= (n.*653C=)
c.933C= (p.Leu311=)
c.*29C= (n.*29C=)
20g.760997G>TCA2651546417SLC52A3c.*653C>A (n.*653C>A)
c.933C>A (p.Leu311=)
c.*29C>A (n.*29C>A)
 gnomAD v4
20g.760998A>GCA2651546418SLC52A3c.*652T>C (n.*652T>C)
c.932T>C (p.Leu311Pro)
c.*28T>C (n.*28T>C)
 dbSNP gnomAD v4
20g.760999G=CA2345348022SLC52A3c.*651C= (n.*651C=)
c.931C= (p.Leu311=)
c.*27C= (n.*27C=)
20g.760999G>TCA9724495SLC52A3c.*651C>A (n.*651C>A)
c.931C>A (p.Leu311Ile)
c.*27C>A (n.*27C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761000C>ACA1014677280SLC52A3c.*650G>T (n.*650G>T)
c.930G>T (p.Ser310=)
c.*26G>T (n.*26G>T)
 dbSNP gnomAD v3 gnomAD v4
20g.761000C=CA2345348023SLC52A3c.*650G= (n.*650G=)
c.930G= (p.Ser310=)
c.*26G= (n.*26G=)
20g.761000C>TCA2651546419SLC52A3c.*650G>A (n.*650G>A)
c.930G>A (p.Ser310=)
c.*26G>A (n.*26G>A)
 gnomAD v4
20g.761001G>ACA2577315052SLC52A3c.*649C>T (n.*649C>T)
c.929C>T (p.Ser310Leu)
c.*25C>T (n.*25C>T)
 gnomAD v4
20g.761001G>CCA634326136SLC52A3c.*649C>G (n.*649C>G)
c.929C>G (p.Ser310Trp)
c.*25C>G (n.*25C>G)
 dbSNP gnomAD v2 gnomAD v4
20g.761001G=CA2345348024SLC52A3c.*649C= (n.*649C=)
c.929C= (p.Ser310=)
c.*25C= (n.*25C=)
20g.761001G>TCA2577315053SLC52A3c.*649C>A (n.*649C>A)
c.929C>A (p.Ser310Ter)
c.*25C>A (n.*25C>A)
 gnomAD v4
20g.761002A=CA2345348025SLC52A3c.*648T= (n.*648T=)
c.928T= (p.Ser310=)
c.*24T= (n.*24T=)
20g.761002A>GCA2345348026SLC52A3c.*648T>C (n.*648T>C)
c.928T>C (p.Ser310Pro)
c.*24T>C (n.*24T>C)
 dbSNP
20g.761004G>TCA2651546421SLC52A3c.*646C>A (n.*646C>A)
c.926C>A (p.Pro309Gln)
c.*22C>A (n.*22C>A)
 gnomAD v4
20g.761008delCA2651546420SLC52A3c.*646del (n.*646del)
c.926del (p.Pro309HisfsTer26)
c.*22del (n.*22del)
 gnomAD v4
20g.761005G>ACA1014677286SLC52A3c.*645C>T (n.*645C>T)
c.925C>T (p.Pro309Ser)
c.*21C>T (n.*21C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.761005G=CA2345348027SLC52A3c.*645C= (n.*645C=)
c.925C= (p.Pro309=)
c.*21C= (n.*21C=)
20g.761005G>TCA2651546422SLC52A3c.*645C>A (n.*645C>A)
c.925C>A (p.Pro309Thr)
c.*21C>A (n.*21C>A)
 gnomAD v4
20g.761006G>ACA2345348029SLC52A3c.*644C>T (n.*644C>T)
c.924C>T (p.Pro308=)
c.*20C>T (n.*20C>T)
 dbSNP gnomAD v4
20g.761006G=CA2345348028SLC52A3c.*644C= (n.*644C=)
c.924C= (p.Pro308=)
c.*20C= (n.*20C=)
20g.761006G>TCA2651546423SLC52A3c.*644C>A (n.*644C>A)
c.924C>A (p.Pro308=)
c.*20C>A (n.*20C>A)
 gnomAD v4
20g.761007G>ACA2651546424SLC52A3c.*643C>T (n.*643C>T)
c.923C>T (p.Pro308Leu)
c.*19C>T (n.*19C>T)
 gnomAD v4
20g.761007G=CA2345348030SLC52A3c.*643C= (n.*643C=)
c.923C= (p.Pro308=)
c.*19C= (n.*19C=)
20g.761007G>TCA634326137SLC52A3c.*643C>A (n.*643C>A)
c.923C>A (p.Pro308His)
c.*19C>A (n.*19C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.761007_761008insACA2651546425SLC52A3c.*642_*643insT (n.*642_*643insT)
c.922_923insT (p.Pro308LeufsTer29)
c.*18_*19insT (n.*18_*19insT)
 gnomAD v4
20g.761008G>ACA310673882SLC52A3c.*642C>T (n.*642C>T)
c.922C>T (p.Pro308Ser)
c.*18C>T (n.*18C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761008G=CA2345348032SLC52A3c.*642C= (n.*642C=)
c.922C= (p.Pro308=)
c.*18C= (n.*18C=)
20g.761008G>TCA2651546426SLC52A3c.*642C>A (n.*642C>A)
c.922C>A (p.Pro308Thr)
c.*18C>A (n.*18C>A)
 gnomAD v4
20g.761008_761009delinsGCCA2345348031SLC52A3c.*641_*642delinsGC (n.*641_*642delinsGC)
c.921_922delinsGC (p.Pro307=)
c.*17_*18delinsGC (n.*17_*18delinsGC)
20g.761009delCA9724496SLC52A3c.*641del (n.*641del)
c.921del (p.Pro309HisfsTer26)
c.*17del (n.*17del)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761009C>ACA2651546427SLC52A3c.*641G>T (n.*641G>T)
c.921G>T (p.Pro307=)
c.*17G>T (n.*17G>T)
 gnomAD v4
20g.761009C=CA2345348033SLC52A3c.*641G= (n.*641G=)
c.921G= (p.Pro307=)
c.*17G= (n.*17G=)
20g.761009C>TCA310673887SLC52A3c.*641G>A (n.*641G>A)
c.921G>A (p.Pro307=)
c.*17G>A (n.*17G>A)
 dbSNP gnomAD v4
20g.761009_761010delinsCGCA2497029948SLC52A3c.*640_*641delinsCG (n.*640_*641delinsCG)
c.920_921delinsCG (p.Pro307=)
c.*16_*17delinsCG (n.*16_*17delinsCG)
20g.761009_761011delinsCGGCA2345348034SLC52A3c.*639_*641delinsCCG (n.*639_*641delinsCCG)
c.919_921delinsCCG (p.Pro307=)
c.*15_*17delinsCCG (n.*15_*17delinsCCG)
20g.761010G>ACA9724499SLC52A3c.*640C>T (n.*640C>T)
c.920C>T (p.Pro307Leu)
c.*16C>T (n.*16C>T)
 dbSNP ExAC gnomAD v4
20g.761010G>CCA9724498SLC52A3c.*640C>G (n.*640C>G)
c.920C>G (p.Pro307Arg)
c.*16C>G (n.*16C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761010G=CA2345348036SLC52A3c.*640C= (n.*640C=)
c.920C= (p.Pro307=)
c.*16C= (n.*16C=)
20g.761010G>TCA634326138SLC52A3c.*640C>A (n.*640C>A)
c.920C>A (p.Pro307Gln)
c.*16C>A (n.*16C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.761013delCA9724497SLC52A3c.*640del (n.*640del)
c.920del (p.Pro307ArgfsTer28)
c.*16del (n.*16del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.761012_761013delCA2345348035SLC52A3c.*639_*640del (n.*639_*640del)
c.919_920del (p.Pro307AlafsTer29)
c.*15_*16del (n.*15_*16del)
 dbSNP
20g.761011G>ACA310673901SLC52A3c.*639C>T (n.*639C>T)
c.919C>T (p.Pro307Ser)
c.*15C>T (n.*15C>T)
 dbSNP gnomAD v4
20g.761011G=CA2345348037SLC52A3c.*639C= (n.*639C=)
c.919C= (p.Pro307=)
c.*15C= (n.*15C=)
20g.761011G>TCA634326139SLC52A3c.*639C>A (n.*639C>A)
c.919C>A (p.Pro307Thr)
c.*15C>A (n.*15C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761012G>ACA310673908SLC52A3c.*638C>T (n.*638C>T)
c.918C>T (p.Thr306=)
c.*14C>T (n.*14C>T)
 dbSNP gnomAD v2
20g.761012G=CA2345348038SLC52A3c.*638C= (n.*638C=)
c.918C= (p.Thr306=)
c.*14C= (n.*14C=)
20g.761013G>ACA9724500SLC52A3c.*637C>T (n.*637C>T)
c.917C>T (p.Thr306Ile)
c.*13C>T (n.*13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761013G=CA2345348040SLC52A3c.*637C= (n.*637C=)
c.917C= (p.Thr306=)
c.*13C= (n.*13C=)
20g.761013G>TCA9724501SLC52A3c.*637C>A (n.*637C>A)
c.917C>A (p.Thr306Asn)
c.*13C>A (n.*13C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761013_761014delinsGTCA2345348039SLC52A3c.*636_*637delinsAC (n.*636_*637delinsAC)
c.916_917delinsAC (p.Thr306=)
c.*12_*13delinsAC (n.*12_*13delinsAC)
20g.761014delCA310673913SLC52A3c.*636del (n.*636del)
c.916del (p.Thr306ProfsTer29)
c.*12del (n.*12del)
 dbSNP
20g.761014T>CCA9724502SLC52A3c.*636A>G (n.*636A>G)
c.916A>G (p.Thr306Ala)
c.*12A>G (n.*12A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761014T=CA2345348041SLC52A3c.*636A= (n.*636A=)
c.916A= (p.Thr306=)
c.*12A= (n.*12A=)
20g.761015C>TCA2651546428SLC52A3c.*635G>A (n.*635G>A)
c.915G>A (p.Pro305=)
c.*11G>A (n.*11G>A)
 gnomAD v4
20g.761016G>ACA634326140SLC52A3c.*634C>T (n.*634C>T)
c.914C>T (p.Pro305Leu)
c.*10C>T (n.*10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761016G=CA2345348042SLC52A3c.*634C= (n.*634C=)
c.914C= (p.Pro305=)
c.*10C= (n.*10C=)
20g.761016G>TCA2651546429SLC52A3c.*634C>A (n.*634C>A)
c.914C>A (p.Pro305Gln)
c.*10C>A (n.*10C>A)
 gnomAD v4
20g.761017G>ACA2651546430SLC52A3c.*633C>T (n.*633C>T)
c.913C>T (p.Pro305Ser)
c.*9C>T (n.*9C>T)
 gnomAD v4
20g.761018C>ACA2577315054SLC52A3c.*632G>T (n.*632G>T)
c.912G>T (p.Pro304=)
c.*8G>T (n.*8G>T)
 gnomAD v4
20g.761018C=CA2345348043SLC52A3c.*632G= (n.*632G=)
c.912G= (p.Pro304=)
c.*8G= (n.*8G=)
20g.761018C>TCA746663290SLC52A3c.*632G>A (n.*632G>A)
c.912G>A (p.Pro304=)
c.*8G>A (n.*8G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.761019G>CCA2651546431SLC52A3c.*631C>G (n.*631C>G)
c.911C>G (p.Pro304Arg)
c.*7C>G (n.*7C>G)
 gnomAD v4
20g.761019G>TCA2651546432SLC52A3c.*631C>A (n.*631C>A)
c.911C>A (p.Pro304Gln)
c.*7C>A (n.*7C>A)
 gnomAD v4
20g.761020G>ACA2651546433SLC52A3c.*630C>T (n.*630C>T)
c.910C>T (p.Pro304Ser)
c.*6C>T (n.*6C>T)
 gnomAD v4
20g.761021C=CA2345348044SLC52A3c.*629G= (n.*629G=)
c.909G= (p.Arg303=)
c.*5G= (n.*5G=)
20g.761021C>TCA634326141SLC52A3c.*629G>A (n.*629G>A)
c.909G>A (p.Arg303=)
c.*5G>A (n.*5G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.761023T>GCA2345348046SLC52A3c.*627A>C (n.*627A>C)
c.907A>C (p.Arg303=)
c.*3A>C (n.*3A>C)
 dbSNP
20g.761023T=CA2345348045SLC52A3c.*627A= (n.*627A=)
c.907A= (p.Arg303=)
c.*3A= (n.*3A=)
20g.761024G>ACA310673915SLC52A3c.*626C>T (n.*626C>T)
c.906C>T (p.Gly302=)
c.*2C>T (n.*2C>T)
n.957C>T
 dbSNP gnomAD v4
20g.761024G>CCA2651546434SLC52A3c.*626C>G (n.*626C>G)
c.906C>G (p.Gly302=)
c.*2C>G (n.*2C>G)
n.957C>G
 gnomAD v4
20g.761024G=CA2345348047SLC52A3c.*626C= (n.*626C=)
c.906C= (p.Gly302=)
c.*2C= (n.*2C=)
n.957C=
20g.761024G>TCA2651546435SLC52A3c.*626C>A (n.*626C>A)
c.906C>A (p.Gly302=)
c.*2C>A (n.*2C>A)
n.957C>A
 gnomAD v4
20g.761024_761028delinsGCCTACA2345348048SLC52A3c.*622_*626delinsTAGGC (n.*622_*626delinsTAGGC)
c.902_906delinsTAGGC (p.Leu301=)
c.1408_*2delinsTAGGC (n.[c.1408_*2delinsTAGGC;Ter470=])
n.953_957delinsTAGGC
20g.761025C>ACA2651546436SLC52A3c.*625G>T (n.*625G>T)
c.905G>T (p.Gly302Val)
c.*1G>T (n.*1G>T)
n.956G>T
 gnomAD v4
20g.761025C=CA2345348050SLC52A3c.*625G= (n.*625G=)
c.905G= (p.Gly302=)
c.*1G= (n.*1G=)
n.956G=
20g.761025C>TCA634326142SLC52A3c.*625G>A (n.*625G>A)
c.905G>A (p.Gly302Asp)
c.*1G>A (n.*1G>A)
n.956G>A
 dbSNP gnomAD v2 gnomAD v4
20g.761026delCA2577315055SLC52A3c.*625del (n.*625del)
c.905del (p.Gly302AlafsTer?)
c.*1del (n.*1del)
n.956del
20g.761025_761028delCA2345348049SLC52A3c.*622_*625del (n.*622_*625del)
c.902_905del (p.Leu301ProfsTer?)
c.1408_*1del (n.[c.1408_*1del;Ter470GlnextTer?])
n.953_956del
 dbSNP
20g.761026C>ACA407961703SLC52A3c.*624G>T (n.*624G>T)
c.904G>T (p.Gly302Cys)
c.1410G>T (p.Ter470Tyr)
n.955G>T
 gnomAD v4
20g.761026C>GCA407961704SLC52A3c.*624G>C (n.*624G>C)
c.904G>C (p.Gly302Arg)
c.1410G>C (p.Ter470Tyr)
n.955G>C
20g.761026C>TCA509341279SLC52A3c.*624G>A (n.*624G>A)
c.904G>A (p.Gly302Ser)
c.1410G>A (p.Ter470=)
n.955G>A
20g.761027T>ACA407961705SLC52A3c.*623A>T (n.*623A>T)
c.903A>T (p.Leu301=)
c.1409A>T (p.Ter470Leu)
n.954A>T
20g.761027T>CCA407961706SLC52A3c.*623A>G (n.*623A>G)
c.903A>G (p.Leu301=)
c.1409A>G (p.Ter470Trp)
n.954A>G
20g.761027T>GCA407961707SLC52A3c.*623A>C (n.*623A>C)
c.903A>C (p.Leu301=)
c.1409A>C (p.Ter470Ser)
n.954A>C
20g.761028A>CCA407961708SLC52A3c.*622T>G (n.*622T>G)
c.902T>G (p.Leu301Arg)
c.1408T>G (p.Ter470Glu)
n.953T>G
20g.761028A>GCA407961709SLC52A3c.*622T>C (n.*622T>C)
c.902T>C (p.Leu301Pro)
c.1408T>C (p.Ter470Gln)
n.953T>C
20g.761028A>TCA407961710SLC52A3c.*622T>A (n.*622T>A)
c.902T>A (p.Leu301Gln)
c.1408T>A (p.Ter470Lys)
n.953T>A
20g.761029G>ACA509341282SLC52A3c.*621C>T (n.*621C>T)
c.901C>T (p.Leu301=)
c.1407C>T (p.Ala469=)
n.952C>T
 dbSNP
20g.761029G>CCA509341281SLC52A3c.*621C>G (n.*621C>G)
c.901C>G (p.Leu301Val)
c.1407C>G (p.Ala469=)
n.952C>G
 ClinVar dbSNP gnomAD v4
20g.761029G=CA2345348051SLC52A3c.*621C= (n.*621C=)
c.901C= (p.Leu301=)
c.1407C= (p.Ala469=)
n.952C=
20g.761029G>TCA509341280SLC52A3c.*621C>A (n.*621C>A)
c.901C>A (p.Leu301Ile)
c.1407C>A (p.Ala469=)
n.952C>A
 gnomAD v4
20g.761030G>ACA407961713SLC52A3c.*620C>T (n.*620C>T)
c.900C>T (p.Ser300=)
c.1406C>T (p.Ala469Val)
n.951C>T
 gnomAD v4
20g.761030G>CCA407961712SLC52A3c.*620C>G (n.*620C>G)
c.900C>G (p.Ser300Arg)
c.1406C>G (p.Ala469Gly)
n.951C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761030G=CA2345348052SLC52A3c.*620C= (n.*620C=)
c.900C= (p.Ser300=)
c.1406C= (p.Ala469=)
n.951C=
20g.761030G>TCA407961711SLC52A3c.*620C>A (n.*620C>A)
c.900C>A (p.Ser300Arg)
c.1406C>A (p.Ala469Asp)
n.951C>A
 dbSNP
20g.761031C>ACA407961714SLC52A3c.*619G>T (n.*619G>T)
c.899G>T (p.Ser300Ile)
c.1405G>T (p.Ala469Ser)
n.950G>T
20g.761031C=CA2345348053SLC52A3c.*619G= (n.*619G=)
c.899G= (p.Ser300=)
c.1405G= (p.Ala469=)
n.950G=
20g.761031C>GCA407961715SLC52A3c.*619G>C (n.*619G>C)
c.899G>C (p.Ser300Thr)
c.1405G>C (p.Ala469Pro)
n.950G>C
 gnomAD v4
20g.761031C>TCA407961716SLC52A3c.*619G>A (n.*619G>A)
c.899G>A (p.Ser300Asn)
c.1405G>A (p.Ala469Thr)
n.950G>A
 dbSNP gnomAD v4
20g.761032T>ACA509341283SLC52A3c.*618A>T (n.*618A>T)
c.898A>T (p.Ser300Cys)
c.1404A>T (p.Pro468=)
n.949A>T
20g.761032T>CCA509341284SLC52A3c.*618A>G (n.*618A>G)
c.898A>G (p.Ser300Gly)
c.1404A>G (p.Pro468=)
n.949A>G
 dbSNP gnomAD v3 gnomAD v4
20g.761032T>GCA509341285SLC52A3c.*618A>C (n.*618A>C)
c.898A>C (p.Ser300Arg)
c.1404A>C (p.Pro468=)
n.949A>C
 dbSNP
20g.761032T=CA2345348054SLC52A3c.*618A= (n.*618A=)
c.898A= (p.Ser300=)
c.1404A= (p.Pro468=)
n.949A=
20g.761033G>ACA407961717SLC52A3c.*617C>T (n.*617C>T)
c.897C>T (p.Ser299=)
c.1403C>T (p.Pro468Leu)
n.948C>T
20g.761033G>CCA407961718SLC52A3c.*617C>G (n.*617C>G)
c.897C>G (p.Ser299=)
c.1403C>G (p.Pro468Arg)
n.948C>G
20g.761033G>TCA407961719SLC52A3c.*617C>A (n.*617C>A)
c.897C>A (p.Ser299=)
c.1403C>A (p.Pro468Gln)
n.948C>A
20g.761053_761054insGCAGGACAGTGCAGATTGCAGAAGCA915952285SLC52A3c.*617_*618insTGCCTTCTGCAATCTGCACTGTCC (n.*617_*618insTGCCTTCTGCAATCTGCACTGTCC)
c.897_898insTGCCTTCTGCAATCTGCACTGTCC (p.Ser299_Ser300insCysLeuLeuGlnSerAlaLeuSer)
c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Pro468_Ala469insAlaPheCysAsnLeuHisCysPro)
n.948_949insTGCCTTCTGCAATCTGCACTGTCC
 ClinVar dbSNP
20g.761034G>ACA407961722SLC52A3c.*616C>T (n.*616C>T)
c.896C>T (p.Ser299Phe)
c.1402C>T (p.Pro468Ser)
n.947C>T
20g.761034G>CCA407961720SLC52A3c.*616C>G (n.*616C>G)
c.896C>G (p.Ser299Cys)
c.1402C>G (p.Pro468Ala)
n.947C>G
20g.761034G>TCA407961721SLC52A3c.*616C>A (n.*616C>A)
c.896C>A (p.Ser299Tyr)
c.1402C>A (p.Pro468Thr)
n.947C>A
20g.761035A>CCA407961723SLC52A3c.*615T>G (n.*615T>G)
c.895T>G (p.Ser299Ala)
c.1401T>G (p.Cys467Trp)
n.946T>G
20g.761035A>GCA509341286SLC52A3c.*615T>C (n.*615T>C)
c.895T>C (p.Ser299Pro)
c.1401T>C (p.Cys467=)
n.946T>C
 gnomAD v4
20g.761035A>TCA407961724SLC52A3c.*615T>A (n.*615T>A)
c.895T>A (p.Ser299Thr)
c.1401T>A (p.Cys467Ter)
n.946T>A
20g.761036C>ACA407961725SLC52A3c.*614G>T (n.*614G>T)
c.894G>T (p.Leu298=)
c.1400G>T (p.Cys467Phe)
n.945G>T
 gnomAD v4
20g.761036C=CA2345348055SLC52A3c.*614G= (n.*614G=)
c.894G= (p.Leu298=)
c.1400G= (p.Cys467=)
n.945G=
20g.761036C>GCA407961726SLC52A3c.*614G>C (n.*614G>C)
c.894G>C (p.Leu298=)
c.1400G>C (p.Cys467Ser)
n.945G>C
 gnomAD v4
20g.761036C>TCA407961727SLC52A3c.*614G>A (n.*614G>A)
c.894G>A (p.Leu298=)
c.1400G>A (p.Cys467Tyr)
n.945G>A
 gnomAD v4
20g.761036_761037insTCA2345348056SLC52A3c.*613_*614insA (n.*613_*614insA)
c.893_894insA (p.Ser299ValfsTer?)
c.1399_1400insA (p.Cys467Ter)
n.944_945insA
 dbSNP
20g.761037A>CCA407961728SLC52A3c.*613T>G (n.*613T>G)
c.893T>G (p.Leu298Arg)
c.1399T>G (p.Cys467Gly)
n.944T>G
20g.761037A>GCA407961730SLC52A3c.*613T>C (n.*613T>C)
c.893T>C (p.Leu298Pro)
c.1399T>C (p.Cys467Arg)
n.944T>C
20g.761037A>TCA407961729SLC52A3c.*613T>A (n.*613T>A)
c.893T>A (p.Leu298Gln)
c.1399T>A (p.Cys467Ser)
n.944T>A
 dbSNP
20g.761038G>ACA509341287SLC52A3c.*612C>T (n.*612C>T)
c.892C>T (p.Leu298=)
c.1398C>T (p.His466=)
n.943C>T
 gnomAD v4
20g.761038G>CCA407961731SLC52A3c.*612C>G (n.*612C>G)
c.892C>G (p.Leu298Val)
c.1398C>G (p.His466Gln)
n.943C>G
 gnomAD v4
20g.761038G>TCA407961732SLC52A3c.*612C>A (n.*612C>A)
c.892C>A (p.Leu298Met)
c.1398C>A (p.His466Gln)
n.943C>A
 gnomAD v4
20g.761039T>ACA407961733SLC52A3c.*611A>T (n.*611A>T)
c.891A>T (p.Ala297=)
c.1397A>T (p.His466Leu)
n.942A>T
20g.761039T>CCA9724503SLC52A3c.*611A>G (n.*611A>G)
c.891A>G (p.Ala297=)
c.1397A>G (p.His466Arg)
n.942A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761039T>GCA407961734SLC52A3c.*611A>C (n.*611A>C)
c.891A>C (p.Ala297=)
c.1397A>C (p.His466Pro)
n.942A>C
20g.761039T=CA2345348057SLC52A3c.*611A= (n.*611A=)
c.891A= (p.Ala297=)
c.1397A= (p.His466=)
n.942A=
20g.761040G>ACA9724504SLC52A3c.*610C>T (n.*610C>T)
c.890C>T (p.Ala297Val)
c.1396C>T (p.His466Tyr)
n.941C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761040G>CCA407961735SLC52A3c.*610C>G (n.*610C>G)
c.890C>G (p.Ala297Gly)
c.1396C>G (p.His466Asp)
n.941C>G
20g.761040G=CA2345348058SLC52A3c.*610C= (n.*610C=)
c.890C= (p.Ala297=)
c.1396C= (p.His466=)
n.941C=
20g.761040G>TCA407961736SLC52A3c.*610C>A (n.*610C>A)
c.890C>A (p.Ala297Glu)
c.1396C>A (p.His466Asn)
n.941C>A
20g.761041C>ACA509341288SLC52A3c.*609G>T (n.*609G>T)
c.889G>T (p.Ala297Ser)
c.1395G>T (p.Leu465=)
n.940G>T
20g.761041C>GCA509341289SLC52A3c.*609G>C (n.*609G>C)
c.889G>C (p.Ala297Pro)
c.1395G>C (p.Leu465=)
n.940G>C
20g.761041C>TCA509341290SLC52A3c.*609G>A (n.*609G>A)
c.889G>A (p.Ala297Thr)
c.1395G>A (p.Leu465=)
n.940G>A
20g.761042A=CA2345348059SLC52A3c.*608T= (n.*608T=)
c.888T= (p.Ser296=)
c.1394T= (p.Leu465=)
n.939T=
20g.761042A>CCA407961737SLC52A3c.*608T>G (n.*608T>G)
c.888T>G (p.Ser296=)
c.1394T>G (p.Leu465Arg)
n.939T>G
20g.761042A>GCA310673928SLC52A3c.*608T>C (n.*608T>C)
c.888T>C (p.Ser296=)
c.1394T>C (p.Leu465Pro)
n.939T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761042A>TCA407961738SLC52A3c.*608T>A (n.*608T>A)
c.888T>A (p.Ser296=)
c.1394T>A (p.Leu465Gln)
n.939T>A
20g.761043G>ACA509341291SLC52A3c.*607C>T (n.*607C>T)
c.887C>T (p.Ser296Phe)
c.1393C>T (p.Leu465=)
n.938C>T
20g.761043G>CCA407961740SLC52A3c.*607C>G (n.*607C>G)
c.887C>G (p.Ser296Cys)
c.1393C>G (p.Leu465Val)
n.938C>G
 COSMIC
20g.761043G=CA2345348060SLC52A3c.*607C= (n.*607C=)
c.887C= (p.Ser296=)
c.1393C= (p.Leu465=)
n.938C=
20g.761043G>TCA407961739SLC52A3c.*607C>A (n.*607C>A)
c.887C>A (p.Ser296Tyr)
c.1393C>A (p.Leu465Met)
n.938C>A
 dbSNP gnomAD v2 gnomAD v4
20g.761044A>CCA407961741SLC52A3c.*606T>G (n.*606T>G)
c.886T>G (p.Ser296Ala)
c.1392T>G (p.Asn464Lys)
n.937T>G
20g.761044A>GCA509341292SLC52A3c.*606T>C (n.*606T>C)
c.886T>C (p.Ser296Pro)
c.1392T>C (p.Asn464=)
n.937T>C
20g.761044A>TCA407961742SLC52A3c.*606T>A (n.*606T>A)
c.886T>A (p.Ser296Thr)
c.1392T>A (p.Asn464Lys)
n.937T>A
20g.761045T>ACA407961743SLC52A3c.*605A>T (n.*605A>T)
c.885A>T (p.Gln295His)
c.1391A>T (p.Asn464Ile)
n.936A>T
20g.761045T>CCA407961744SLC52A3c.*605A>G (n.*605A>G)
c.885A>G (p.Gln295=)
c.1391A>G (p.Asn464Ser)
n.936A>G
20g.761045T>GCA407961745SLC52A3c.*605A>C (n.*605A>C)
c.885A>C (p.Gln295His)
c.1391A>C (p.Asn464Thr)
n.936A>C
20g.761046T>ACA407961746SLC52A3c.*604A>T (n.*604A>T)
c.884A>T (p.Gln295Leu)
c.1390A>T (p.Asn464Tyr)
n.935A>T
20g.761046T>CCA407961747SLC52A3c.*604A>G (n.*604A>G)
c.884A>G (p.Gln295Arg)
c.1390A>G (p.Asn464Asp)
n.935A>G
20g.761046T>GCA407961748SLC52A3c.*604A>C (n.*604A>C)
c.884A>C (p.Gln295Pro)
c.1390A>C (p.Asn464His)
n.935A>C
20g.761047G>ACA509341293SLC52A3c.*603C>T (n.*603C>T)
c.883C>T (p.Gln295Ter)
c.1389C>T (p.Cys463=)
n.934C>T
20g.761047G>CCA407961749SLC52A3c.*603C>G (n.*603C>G)
c.883C>G (p.Gln295Glu)
c.1389C>G (p.Cys463Trp)
n.934C>G
20g.761047G>TCA407961750SLC52A3c.*603C>A (n.*603C>A)
c.883C>A (p.Gln295Lys)
c.1389C>A (p.Cys463Ter)
n.934C>A
20g.761048C>ACA407961751SLC52A3c.*602G>T (n.*602G>T)
c.882G>T (p.Leu294=)
c.1388G>T (p.Cys463Phe)
n.933G>T
 gnomAD v4
20g.761048C>GCA407961752SLC52A3c.*602G>C (n.*602G>C)
c.882G>C (p.Leu294=)
c.1388G>C (p.Cys463Ser)
n.933G>C
20g.761048C>TCA407961753SLC52A3c.*602G>A (n.*602G>A)
c.882G>A (p.Leu294=)
c.1388G>A (p.Cys463Tyr)
n.933G>A
20g.761049A=CA2345348061SLC52A3c.*601T= (n.*601T=)
c.881T= (p.Leu294=)
c.1387T= (p.Cys463=)
n.932T=
20g.761049A>CCA407961754SLC52A3c.*601T>G (n.*601T>G)
c.881T>G (p.Leu294Arg)
c.1387T>G (p.Cys463Gly)
n.932T>G
 dbSNP
20g.761049A>GCA407961755SLC52A3c.*601T>C (n.*601T>C)
c.881T>C (p.Leu294Pro)
c.1387T>C (p.Cys463Arg)
n.932T>C
20g.761049A>TCA407961756SLC52A3c.*601T>A (n.*601T>A)
c.881T>A (p.Leu294Gln)
c.1387T>A (p.Cys463Ser)
n.932T>A
20g.761050G>ACA509341294SLC52A3c.*600C>T (n.*600C>T)
c.880C>T (p.Leu294=)
c.1386C>T (p.Phe462=)
n.931C>T
 dbSNP gnomAD v2 gnomAD v4
20g.761050G>CCA407961757SLC52A3c.*600C>G (n.*600C>G)
c.880C>G (p.Leu294Val)
c.1386C>G (p.Phe462Leu)
n.931C>G
20g.761050G=CA2345348062SLC52A3c.*600C= (n.*600C=)
c.880C= (p.Leu294=)
c.1386C= (p.Phe462=)
n.931C=
20g.761050G>TCA9724505SLC52A3c.*600C>A (n.*600C>A)
c.880C>A (p.Leu294Met)
c.1386C>A (p.Phe462Leu)
n.931C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761051A>CCA407961758SLC52A3c.*599T>G (n.*599T>G)
c.879T>G (p.Leu293=)
c.1385T>G (p.Phe462Cys)
n.930T>G
20g.761051A>GCA407961759SLC52A3c.*599T>C (n.*599T>C)
c.879T>C (p.Leu293=)
c.1385T>C (p.Phe462Ser)
n.930T>C
 gnomAD v4
20g.761051A>TCA407961760SLC52A3c.*599T>A (n.*599T>A)
c.879T>A (p.Leu293=)
c.1385T>A (p.Phe462Tyr)
n.930T>A
20g.761052A>CCA407961761SLC52A3c.*598T>G (n.*598T>G)
c.878T>G (p.Leu293Arg)
c.1384T>G (p.Phe462Val)
n.929T>G
20g.761052A>GCA407961762SLC52A3c.*598T>C (n.*598T>C)
c.878T>C (p.Leu293Pro)
c.1384T>C (p.Phe462Leu)
n.929T>C
 gnomAD v4
20g.761052A>TCA407961763SLC52A3c.*598T>A (n.*598T>A)
c.878T>A (p.Leu293His)
c.1384T>A (p.Phe462Ile)
n.929T>A
20g.761053G>ACA509341295SLC52A3c.*597C>T (n.*597C>T)
c.877C>T (p.Leu293Phe)
c.1383C>T (p.Asp461=)
n.928C>T
20g.761053G>CCA407961764SLC52A3c.*597C>G (n.*597C>G)
c.877C>G (p.Leu293Val)
c.1383C>G (p.Asp461Glu)
n.928C>G
20g.761053G>TCA407961765SLC52A3c.*597C>A (n.*597C>A)
c.877C>A (p.Leu293Ile)
c.1383C>A (p.Asp461Glu)
n.928C>A
20g.761054T>ACA407961766SLC52A3c.*596A>T (n.*596A>T)
c.876A>T (p.Gly292=)
c.1382A>T (p.Asp461Val)
n.927A>T
20g.761054T>CCA407961767SLC52A3c.*596A>G (n.*596A>G)
c.876A>G (p.Gly292=)
c.1382A>G (p.Asp461Gly)
n.927A>G
20g.761054T>GCA407961768SLC52A3c.*596A>C (n.*596A>C)
c.876A>C (p.Gly292=)
c.1382A>C (p.Asp461Ala)
n.927A>C
20g.761054_761070delinsTCCGCGGACGAGAAGAGCA2345348063SLC52A3c.*580_*596delinsCTCTTCTCGTCCGCGGA (n.*580_*596delinsCTCTTCTCGTCCGCGGA)
c.860_876delinsCTCTTCTCGTCCGCGGA (p.Ala287=)
c.1366_1382delinsCTCTTCTCGTCCGCGGA (p.Leu456=)
n.911_927delinsCTCTTCTCGTCCGCGGA
20g.761055C>ACA9724506SLC52A3c.*595G>T (n.*595G>T)
c.875G>T (p.Gly292Val)
c.1381G>T (p.Asp461Tyr)
n.926G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761055C=CA2345348064SLC52A3c.*595G= (n.*595G=)
c.875G= (p.Gly292=)
c.1381G= (p.Asp461=)
n.926G=
20g.761055C>GCA407961770SLC52A3c.*595G>C (n.*595G>C)
c.875G>C (p.Gly292Ala)
c.1381G>C (p.Asp461His)
n.926G>C
20g.761055C>TCA407961769SLC52A3c.*595G>A (n.*595G>A)
c.875G>A (p.Gly292Glu)
c.1381G>A (p.Asp461Asn)
n.926G>A
20g.761059_761074delCA634326143SLC52A3c.*580_*595del (n.*580_*595del)
c.860_875del (p.Ala287AspfsTer10)
c.1366_1381del (p.Leu456ThrfsTer?)
n.911_926del
 dbSNP gnomAD v2 gnomAD v4
20g.761056C>ACA509341296SLC52A3c.*594G>T (n.*594G>T)
c.874G>T (p.Gly292Ter)
c.1380G>T (p.Ala460=)
n.925G>T
 dbSNP
20g.761056C>GCA509341297SLC52A3c.*594G>C (n.*594G>C)
c.874G>C (p.Gly292Arg)
c.1380G>C (p.Ala460=)
n.925G>C
 ClinVar gnomAD v4
20g.761056C>TCA509341298SLC52A3c.*594G>A (n.*594G>A)
c.874G>A (p.Gly292Arg)
c.1380G>A (p.Ala460=)
n.925G>A
 gnomAD v4
20g.761057G>ACA407961771SLC52A3c.*593C>T (n.*593C>T)
c.873C>T (p.Arg291=)
c.1379C>T (p.Ala460Val)
n.924C>T
 dbSNP
20g.761057G>CCA407961772SLC52A3c.*593C>G (n.*593C>G)
c.873C>G (p.Arg291=)
c.1379C>G (p.Ala460Gly)
n.924C>G
20g.761057G=CA2345348065SLC52A3c.*593C= (n.*593C=)
c.873C= (p.Arg291=)
c.1379C= (p.Ala460=)
n.924C=
20g.761057G>TCA407961773SLC52A3c.*593C>A (n.*593C>A)
c.873C>A (p.Arg291=)
c.1379C>A (p.Ala460Glu)
n.924C>A
20g.761058C>ACA407961774SLC52A3c.*592G>T (n.*592G>T)
c.872G>T (p.Arg291Leu)
c.1378G>T (p.Ala460Ser)
n.923G>T
20g.761058C=CA2345348066SLC52A3c.*592G= (n.*592G=)
c.872G= (p.Arg291=)
c.1378G= (p.Ala460=)
n.923G=
20g.761058C>GCA407961775SLC52A3c.*592G>C (n.*592G>C)
c.872G>C (p.Arg291Pro)
c.1378G>C (p.Ala460Pro)
n.923G>C
20g.761058C>TCA407961776SLC52A3c.*592G>A (n.*592G>A)
c.872G>A (p.Arg291His)
c.1378G>A (p.Ala460Thr)
n.923G>A
 dbSNP gnomAD v2 gnomAD v4
20g.761059G>ACA509341299SLC52A3c.*591C>T (n.*591C>T)
c.871C>T (p.Arg291Cys)
c.1377C>T (p.Ser459=)
n.922C>T
 gnomAD v4
20g.761059G>CCA509341300SLC52A3c.*591C>G (n.*591C>G)
c.871C>G (p.Arg291Gly)
c.1377C>G (p.Ser459=)
n.922C>G
20g.761059G>TCA509341301SLC52A3c.*591C>A (n.*591C>A)
c.871C>A (p.Arg291Ser)
c.1377C>A (p.Ser459=)
n.922C>A
20g.761060G>ACA407961779SLC52A3c.*590C>T (n.*590C>T)
c.870C>T (p.Val290=)
c.1376C>T (p.Ser459Phe)
n.921C>T
 gnomAD v4
20g.761060G>CCA407961777SLC52A3c.*590C>G (n.*590C>G)
c.870C>G (p.Val290=)
c.1376C>G (p.Ser459Cys)
n.921C>G
20g.761060G>TCA407961778SLC52A3c.*590C>A (n.*590C>A)
c.870C>A (p.Val290=)
c.1376C>A (p.Ser459Tyr)
n.921C>A
20g.761062_761066delCA2651546437SLC52A3c.*586_*590del (n.*586_*590del)
c.866_870del (p.Leu289ProfsTer?)
c.1372_1376del (p.Ser458ArgfsTer?)
n.917_921del
 gnomAD v4
20g.761061A=CA2345348067SLC52A3c.*589T= (n.*589T=)
c.869T= (p.Val290=)
c.1375T= (p.Ser459=)
n.920T=
20g.761061A>CCA407961780SLC52A3c.*589T>G (n.*589T>G)
c.869T>G (p.Val290Gly)
c.1375T>G (p.Ser459Ala)
n.920T>G
 gnomAD v4
20g.761061A>GCA9724507SLC52A3c.*589T>C (n.*589T>C)
c.869T>C (p.Val290Ala)
c.1375T>C (p.Ser459Pro)
n.920T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761061A>TCA407961781SLC52A3c.*589T>A (n.*589T>A)
c.869T>A (p.Val290Asp)
c.1375T>A (p.Ser459Thr)
n.920T>A
 gnomAD v4
20g.761062C>ACA9724508SLC52A3c.*588G>T (n.*588G>T)
c.868G>T (p.Val290Phe)
c.1374G>T (p.Ser458=)
n.919G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761062C=CA2345348068SLC52A3c.*588G= (n.*588G=)
c.868G= (p.Val290=)
c.1374G= (p.Ser458=)
n.919G=
20g.761062C>GCA509341302SLC52A3c.*588G>C (n.*588G>C)
c.868G>C (p.Val290Leu)
c.1374G>C (p.Ser458=)
n.919G>C
20g.761062C>TCA9724509SLC52A3c.*588G>A (n.*588G>A)
c.868G>A (p.Val290Ile)
c.1374G>A (p.Ser458=)
n.919G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched