Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.760958C>A | CA2651546384 | SLC52A3 | c.*692G>T (n.*692G>T) c.972G>T (p.Glu324Asp) c.*68G>T (n.*68G>T) | gnomAD v4 |
20 | g.760958C= | CA2345347995 | SLC52A3 | c.*692G= (n.*692G=) c.972G= (p.Glu324=) c.*68G= (n.*68G=) | |
20 | g.760958C>T | CA746663221 | SLC52A3 | c.*692G>A (n.*692G>A) c.972G>A (p.Glu324=) c.*68G>A (n.*68G>A) | dbSNP gnomAD v4 |
20 | g.760959T>C | CA2651546385 | SLC52A3 | c.*691A>G (n.*691A>G) c.971A>G (p.Glu324Gly) c.*67A>G (n.*67A>G) | gnomAD v4 |
20 | g.760960C>A | CA2651546386 | SLC52A3 | c.*690G>T (n.*690G>T) c.970G>T (p.Glu324Ter) c.*66G>T (n.*66G>T) | gnomAD v4 |
20 | g.760960C= | CA2345347996 | SLC52A3 | c.*690G= (n.*690G=) c.970G= (p.Glu324=) c.*66G= (n.*66G=) | |
20 | g.760960C>T | CA746663222 | SLC52A3 | c.*690G>A (n.*690G>A) c.970G>A (p.Glu324Lys) c.*66G>A (n.*66G>A) | dbSNP |
20 | g.760962G>A | CA2651546387 | SLC52A3 | c.*688C>T (n.*688C>T) c.968C>T (p.Thr323Ile) c.*64C>T (n.*64C>T) | gnomAD v4 |
20 | g.760962G>C | CA2345347998 | SLC52A3 | c.*688C>G (n.*688C>G) c.968C>G (p.Thr323Arg) c.*64C>G (n.*64C>G) | dbSNP gnomAD v4 |
20 | g.760962G= | CA2345347997 | SLC52A3 | c.*688C= (n.*688C=) c.968C= (p.Thr323=) c.*64C= (n.*64C=) | |
20 | g.760964G>T | CA2651546388 | SLC52A3 | c.*686C>A (n.*686C>A) c.966C>A (p.Val322=) c.*62C>A (n.*62C>A) | gnomAD v4 |
20 | g.760965A= | CA2345347999 | SLC52A3 | c.*685T= (n.*685T=) c.965T= (p.Val322=) c.*61T= (n.*61T=) | |
20 | g.760965A>C | CA2345348000 | SLC52A3 | c.*685T>G (n.*685T>G) c.965T>G (p.Val322Gly) c.*61T>G (n.*61T>G) | dbSNP |
20 | g.760965A>G | CA2651546389 | SLC52A3 | c.*685T>C (n.*685T>C) c.965T>C (p.Val322Ala) c.*61T>C (n.*61T>C) | gnomAD v4 |
20 | g.760966C= | CA2345348001 | SLC52A3 | c.*684G= (n.*684G=) c.964G= (p.Val322=) c.*60G= (n.*60G=) | |
20 | g.760966C>T | CA310673846 | SLC52A3 | c.*684G>A (n.*684G>A) c.964G>A (p.Val322Ile) c.*60G>A (n.*60G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.760968T>C | CA2651546390 | SLC52A3 | c.*682A>G (n.*682A>G) c.962A>G (p.Gln321Arg) c.*58A>G (n.*58A>G) | gnomAD v4 |
20 | g.760969G>T | CA2651546391 | SLC52A3 | c.*681C>A (n.*681C>A) c.961C>A (p.Gln321Lys) c.*57C>A (n.*57C>A) | dbSNP gnomAD v4 |
20 | g.760970del | CA2651546392 | SLC52A3 | c.*681del (n.*681del) c.961del (p.Gln321ArgfsTer14) c.*57del (n.*57del) | gnomAD v4 |
20 | g.760970G>A | CA2651546393 | SLC52A3 | c.*680C>T (n.*680C>T) c.960C>T (p.Gly320=) c.*56C>T (n.*56C>T) | gnomAD v4 |
20 | g.760970G>T | CA2651546394 | SLC52A3 | c.*680C>A (n.*680C>A) c.960C>A (p.Gly320=) c.*56C>A (n.*56C>A) | gnomAD v4 |
20 | g.760971C>A | CA2651546395 | SLC52A3 | c.*679G>T (n.*679G>T) c.959G>T (p.Gly320Val) c.*55G>T (n.*55G>T) | gnomAD v4 |
20 | g.760971C= | CA2345348002 | SLC52A3 | c.*679G= (n.*679G=) c.959G= (p.Gly320=) c.*55G= (n.*55G=) | |
20 | g.760971C>T | CA634326130 | SLC52A3 | c.*679G>A (n.*679G>A) c.959G>A (p.Gly320Asp) c.*55G>A (n.*55G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.760972C= | CA2345348003 | SLC52A3 | c.*678G= (n.*678G=) c.958G= (p.Gly320=) c.*54G= (n.*54G=) | |
20 | g.760972C>T | CA2345348004 | SLC52A3 | c.*678G>A (n.*678G>A) c.958G>A (p.Gly320Ser) c.*54G>A (n.*54G>A) | dbSNP gnomAD v4 |
20 | g.760974C>T | CA2651546396 | SLC52A3 | c.*676G>A (n.*676G>A) c.956G>A (p.Arg319Lys) c.*52G>A (n.*52G>A) | gnomAD v4 |
20 | g.760975T>A | CA2651546397 | SLC52A3 | c.*675A>T (n.*675A>T) c.955A>T (p.Arg319Ter) c.*51A>T (n.*51A>T) | gnomAD v4 |
20 | g.760976C>A | CA2651546398 | SLC52A3 | c.*674G>T (n.*674G>T) c.954G>T (p.Gln318His) c.*50G>T (n.*50G>T) | gnomAD v4 |
20 | g.760976C= | CA2345348005 | SLC52A3 | c.*674G= (n.*674G=) c.954G= (p.Gln318=) c.*50G= (n.*50G=) | |
20 | g.760976C>T | CA2345348006 | SLC52A3 | c.*674G>A (n.*674G>A) c.954G>A (p.Gln318=) c.*50G>A (n.*50G>A) | dbSNP |
20 | g.760977T>C | CA2651546399 | SLC52A3 | c.*673A>G (n.*673A>G) c.953A>G (p.Gln318Arg) c.*49A>G (n.*49A>G) | gnomAD v4 |
20 | g.760979del | CA2577315050 | SLC52A3 | c.*672del (n.*672del) c.952del (p.Gln318ArgfsTer17) c.*48del (n.*48del) | gnomAD v4 |
20 | g.760979G>A | CA2651546400 | SLC52A3 | c.*671C>T (n.*671C>T) c.951C>T (p.Val317=) c.*47C>T (n.*47C>T) | gnomAD v4 |
20 | g.760980A= | CA2345348007 | SLC52A3 | c.*670T= (n.*670T=) c.950T= (p.Val317=) c.*46T= (n.*46T=) | |
20 | g.760980A>C | CA2345348008 | SLC52A3 | c.*670T>G (n.*670T>G) c.950T>G (p.Val317Gly) c.*46T>G (n.*46T>G) | dbSNP |
20 | g.760980A>G | CA2651546401 | SLC52A3 | c.*670T>C (n.*670T>C) c.950T>C (p.Val317Ala) c.*46T>C (n.*46T>C) | gnomAD v4 |
20 | g.760981C>A | CA2651546402 | SLC52A3 | c.*669G>T (n.*669G>T) c.949G>T (p.Val317Phe) c.*45G>T (n.*45G>T) | gnomAD v4 |
20 | g.760981C= | CA2345348009 | SLC52A3 | c.*669G= (n.*669G=) c.949G= (p.Val317=) c.*45G= (n.*45G=) | |
20 | g.760981C>G | CA2651546403 | SLC52A3 | c.*669G>C (n.*669G>C) c.949G>C (p.Val317Leu) c.*45G>C (n.*45G>C) | gnomAD v4 |
20 | g.760981C>T | CA9724492 | SLC52A3 | c.*669G>A (n.*669G>A) c.949G>A (p.Val317Ile) c.*45G>A (n.*45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.760982C>A | CA634326131 | SLC52A3 | c.*668G>T (n.*668G>T) c.948G>T (p.Gly316=) c.*44G>T (n.*44G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.760982C= | CA2345348010 | SLC52A3 | c.*668G= (n.*668G=) c.948G= (p.Gly316=) c.*44G= (n.*44G=) | |
20 | g.760982C>T | CA2651546404 | SLC52A3 | c.*668G>A (n.*668G>A) c.948G>A (p.Gly316=) c.*44G>A (n.*44G>A) | gnomAD v4 |
20 | g.760983C>A | CA2651546405 | SLC52A3 | c.*667G>T (n.*667G>T) c.947G>T (p.Gly316Val) c.*43G>T (n.*43G>T) | gnomAD v4 |
20 | g.760983C= | CA2345348011 | SLC52A3 | c.*667G= (n.*667G=) c.947G= (p.Gly316=) c.*43G= (n.*43G=) | |
20 | g.760983C>G | CA2736162784 | SLC52A3 | c.*667G>C (n.*667G>C) c.947G>C (p.Gly316Ala) c.*43G>C (n.*43G>C) | dbSNP |
20 | g.760983C>T | CA2345348012 | SLC52A3 | c.*667G>A (n.*667G>A) c.947G>A (p.Gly316Glu) c.*43G>A (n.*43G>A) | dbSNP gnomAD v4 |
20 | g.760984C>A | CA2651546406 | SLC52A3 | c.*666G>T (n.*666G>T) c.946G>T (p.Gly316Trp) c.*42G>T (n.*42G>T) | gnomAD v4 |
20 | g.760984C>T | CA2651546407 | SLC52A3 | c.*666G>A (n.*666G>A) c.946G>A (p.Gly316Arg) c.*42G>A (n.*42G>A) | gnomAD v4 |
20 | g.760985A= | CA2345348013 | SLC52A3 | c.*665T= (n.*665T=) c.945T= (p.Thr315=) c.*41T= (n.*41T=) | |
20 | g.760985A>G | CA634326132 | SLC52A3 | c.*665T>C (n.*665T>C) c.945T>C (p.Thr315=) c.*41T>C (n.*41T>C) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.760985A>T | CA2345348014 | SLC52A3 | c.*665T>A (n.*665T>A) c.945T>A (p.Thr315=) c.*41T>A (n.*41T>A) | dbSNP |
20 | g.760986G>C | CA310673866 | SLC52A3 | c.*664C>G (n.*664C>G) c.944C>G (p.Thr315Ser) c.*40C>G (n.*40C>G) | dbSNP gnomAD v4 |
20 | g.760986G= | CA2345348015 | SLC52A3 | c.*664C= (n.*664C=) c.944C= (p.Thr315=) c.*40C= (n.*40C=) | |
20 | g.760986G>T | CA2651546408 | SLC52A3 | c.*664C>A (n.*664C>A) c.944C>A (p.Thr315Asn) c.*40C>A (n.*40C>A) | gnomAD v4 |
20 | g.760987T>C | CA1014677273 | SLC52A3 | c.*663A>G (n.*663A>G) c.943A>G (p.Thr315Ala) c.*39A>G (n.*39A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.760987T= | CA2345348016 | SLC52A3 | c.*663A= (n.*663A=) c.943A= (p.Thr315=) c.*39A= (n.*39A=) | |
20 | g.760989C>A | CA2651546409 | SLC52A3 | c.*661G>T (n.*661G>T) c.941G>T (p.Gly314Val) c.*37G>T (n.*37G>T) | gnomAD v4 |
20 | g.760989C>T | CA2651546410 | SLC52A3 | c.*661G>A (n.*661G>A) c.941G>A (p.Gly314Glu) c.*37G>A (n.*37G>A) | gnomAD v4 |
20 | g.760990C>A | CA2651546411 | SLC52A3 | c.*660G>T (n.*660G>T) c.940G>T (p.Gly314Ter) c.*36G>T (n.*36G>T) | gnomAD v4 |
20 | g.760990C>G | CA2651546412 | SLC52A3 | c.*660G>C (n.*660G>C) c.940G>C (p.Gly314Arg) c.*36G>C (n.*36G>C) | gnomAD v4 |
20 | g.760990C>T | CA2651546413 | SLC52A3 | c.*660G>A (n.*660G>A) c.940G>A (p.Gly314Arg) c.*36G>A (n.*36G>A) | gnomAD v4 |
20 | g.760991G>A | CA2589543541 | SLC52A3 | c.*659C>T (n.*659C>T) c.939C>T (p.Asp313=) c.*35C>T (n.*35C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.760991G>C | CA2815001719 | SLC52A3 | c.*659C>G (n.*659C>G) c.939C>G (p.Asp313Glu) c.*35C>G (n.*35C>G) | |
20 | g.760991G>T | CA2651546414 | SLC52A3 | c.*659C>A (n.*659C>A) c.939C>A (p.Asp313Glu) c.*35C>A (n.*35C>A) | gnomAD v4 |
20 | g.760992T>C | CA9724493 | SLC52A3 | c.*658A>G (n.*658A>G) c.938A>G (p.Asp313Gly) c.*34A>G (n.*34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.760992T= | CA2345348017 | SLC52A3 | c.*658A= (n.*658A=) c.938A= (p.Asp313=) c.*34A= (n.*34A=) | |
20 | g.760993C>A | CA634326133 | SLC52A3 | c.*657G>T (n.*657G>T) c.937G>T (p.Asp313Tyr) c.*33G>T (n.*33G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.760993C= | CA2345348018 | SLC52A3 | c.*657G= (n.*657G=) c.937G= (p.Asp313=) c.*33G= (n.*33G=) | |
20 | g.760993C>T | CA634326134 | SLC52A3 | c.*657G>A (n.*657G>A) c.937G>A (p.Asp313Asn) c.*33G>A (n.*33G>A) | dbSNP gnomAD v2 |
20 | g.760994C>A | CA746663236 | SLC52A3 | c.*656G>T (n.*656G>T) c.936G>T (p.Thr312=) c.*32G>T (n.*32G>T) | dbSNP gnomAD v4 |
20 | g.760994C= | CA2345348019 | SLC52A3 | c.*656G= (n.*656G=) c.936G= (p.Thr312=) c.*32G= (n.*32G=) | |
20 | g.760994C>T | CA2651546415 | SLC52A3 | c.*656G>A (n.*656G>A) c.936G>A (p.Thr312=) c.*32G>A (n.*32G>A) | gnomAD v4 |
20 | g.760995G>A | CA2651546416 | SLC52A3 | c.*655C>T (n.*655C>T) c.935C>T (p.Thr312Met) c.*31C>T (n.*31C>T) | gnomAD v4 |
20 | g.760995G= | CA2345348020 | SLC52A3 | c.*655C= (n.*655C=) c.935C= (p.Thr312=) c.*31C= (n.*31C=) | |
20 | g.760995G>T | CA634326135 | SLC52A3 | c.*655C>A (n.*655C>A) c.935C>A (p.Thr312Lys) c.*31C>A (n.*31C>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.760996_760997del | CA2577315051 | SLC52A3 | c.*654_*655del (n.*654_*655del) c.934_935del (p.Thr312GlyfsTer24) c.*30_*31del (n.*30_*31del) | |
20 | g.760997G>A | CA9724494 | SLC52A3 | c.*653C>T (n.*653C>T) c.933C>T (p.Leu311=) c.*29C>T (n.*29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.760997G= | CA2345348021 | SLC52A3 | c.*653C= (n.*653C=) c.933C= (p.Leu311=) c.*29C= (n.*29C=) | |
20 | g.760997G>T | CA2651546417 | SLC52A3 | c.*653C>A (n.*653C>A) c.933C>A (p.Leu311=) c.*29C>A (n.*29C>A) | gnomAD v4 |
20 | g.760998A>G | CA2651546418 | SLC52A3 | c.*652T>C (n.*652T>C) c.932T>C (p.Leu311Pro) c.*28T>C (n.*28T>C) | dbSNP gnomAD v4 |
20 | g.760999G= | CA2345348022 | SLC52A3 | c.*651C= (n.*651C=) c.931C= (p.Leu311=) c.*27C= (n.*27C=) | |
20 | g.760999G>T | CA9724495 | SLC52A3 | c.*651C>A (n.*651C>A) c.931C>A (p.Leu311Ile) c.*27C>A (n.*27C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.761000C>A | CA1014677280 | SLC52A3 | c.*650G>T (n.*650G>T) c.930G>T (p.Ser310=) c.*26G>T (n.*26G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.761000C= | CA2345348023 | SLC52A3 | c.*650G= (n.*650G=) c.930G= (p.Ser310=) c.*26G= (n.*26G=) | |
20 | g.761000C>T | CA2651546419 | SLC52A3 | c.*650G>A (n.*650G>A) c.930G>A (p.Ser310=) c.*26G>A (n.*26G>A) | gnomAD v4 |
20 | g.761001G>A | CA2577315052 | SLC52A3 | c.*649C>T (n.*649C>T) c.929C>T (p.Ser310Leu) c.*25C>T (n.*25C>T) | gnomAD v4 |
20 | g.761001G>C | CA634326136 | SLC52A3 | c.*649C>G (n.*649C>G) c.929C>G (p.Ser310Trp) c.*25C>G (n.*25C>G) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761001G= | CA2345348024 | SLC52A3 | c.*649C= (n.*649C=) c.929C= (p.Ser310=) c.*25C= (n.*25C=) | |
20 | g.761001G>T | CA2577315053 | SLC52A3 | c.*649C>A (n.*649C>A) c.929C>A (p.Ser310Ter) c.*25C>A (n.*25C>A) | gnomAD v4 |
20 | g.761002A= | CA2345348025 | SLC52A3 | c.*648T= (n.*648T=) c.928T= (p.Ser310=) c.*24T= (n.*24T=) | |
20 | g.761002A>G | CA2345348026 | SLC52A3 | c.*648T>C (n.*648T>C) c.928T>C (p.Ser310Pro) c.*24T>C (n.*24T>C) | dbSNP |
20 | g.761004G>T | CA2651546421 | SLC52A3 | c.*646C>A (n.*646C>A) c.926C>A (p.Pro309Gln) c.*22C>A (n.*22C>A) | gnomAD v4 |
20 | g.761008del | CA2651546420 | SLC52A3 | c.*646del (n.*646del) c.926del (p.Pro309HisfsTer26) c.*22del (n.*22del) | gnomAD v4 |
20 | g.761005G>A | CA1014677286 | SLC52A3 | c.*645C>T (n.*645C>T) c.925C>T (p.Pro309Ser) c.*21C>T (n.*21C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.761005G= | CA2345348027 | SLC52A3 | c.*645C= (n.*645C=) c.925C= (p.Pro309=) c.*21C= (n.*21C=) | |
20 | g.761005G>T | CA2651546422 | SLC52A3 | c.*645C>A (n.*645C>A) c.925C>A (p.Pro309Thr) c.*21C>A (n.*21C>A) | gnomAD v4 |
20 | g.761006G>A | CA2345348029 | SLC52A3 | c.*644C>T (n.*644C>T) c.924C>T (p.Pro308=) c.*20C>T (n.*20C>T) | dbSNP gnomAD v4 |
20 | g.761006G= | CA2345348028 | SLC52A3 | c.*644C= (n.*644C=) c.924C= (p.Pro308=) c.*20C= (n.*20C=) | |
20 | g.761006G>T | CA2651546423 | SLC52A3 | c.*644C>A (n.*644C>A) c.924C>A (p.Pro308=) c.*20C>A (n.*20C>A) | gnomAD v4 |
20 | g.761007G>A | CA2651546424 | SLC52A3 | c.*643C>T (n.*643C>T) c.923C>T (p.Pro308Leu) c.*19C>T (n.*19C>T) | gnomAD v4 |
20 | g.761007G= | CA2345348030 | SLC52A3 | c.*643C= (n.*643C=) c.923C= (p.Pro308=) c.*19C= (n.*19C=) | |
20 | g.761007G>T | CA634326137 | SLC52A3 | c.*643C>A (n.*643C>A) c.923C>A (p.Pro308His) c.*19C>A (n.*19C>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761007_761008insA | CA2651546425 | SLC52A3 | c.*642_*643insT (n.*642_*643insT) c.922_923insT (p.Pro308LeufsTer29) c.*18_*19insT (n.*18_*19insT) | gnomAD v4 |
20 | g.761008G>A | CA310673882 | SLC52A3 | c.*642C>T (n.*642C>T) c.922C>T (p.Pro308Ser) c.*18C>T (n.*18C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.761008G= | CA2345348032 | SLC52A3 | c.*642C= (n.*642C=) c.922C= (p.Pro308=) c.*18C= (n.*18C=) | |
20 | g.761008G>T | CA2651546426 | SLC52A3 | c.*642C>A (n.*642C>A) c.922C>A (p.Pro308Thr) c.*18C>A (n.*18C>A) | gnomAD v4 |
20 | g.761008_761009delinsGC | CA2345348031 | SLC52A3 | c.*641_*642delinsGC (n.*641_*642delinsGC) c.921_922delinsGC (p.Pro307=) c.*17_*18delinsGC (n.*17_*18delinsGC) | |
20 | g.761009del | CA9724496 | SLC52A3 | c.*641del (n.*641del) c.921del (p.Pro309HisfsTer26) c.*17del (n.*17del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.761009C>A | CA2651546427 | SLC52A3 | c.*641G>T (n.*641G>T) c.921G>T (p.Pro307=) c.*17G>T (n.*17G>T) | gnomAD v4 |
20 | g.761009C= | CA2345348033 | SLC52A3 | c.*641G= (n.*641G=) c.921G= (p.Pro307=) c.*17G= (n.*17G=) | |
20 | g.761009C>T | CA310673887 | SLC52A3 | c.*641G>A (n.*641G>A) c.921G>A (p.Pro307=) c.*17G>A (n.*17G>A) | dbSNP gnomAD v4 |
20 | g.761009_761010delinsCG | CA2497029948 | SLC52A3 | c.*640_*641delinsCG (n.*640_*641delinsCG) c.920_921delinsCG (p.Pro307=) c.*16_*17delinsCG (n.*16_*17delinsCG) | |
20 | g.761009_761011delinsCGG | CA2345348034 | SLC52A3 | c.*639_*641delinsCCG (n.*639_*641delinsCCG) c.919_921delinsCCG (p.Pro307=) c.*15_*17delinsCCG (n.*15_*17delinsCCG) | |
20 | g.761010G>A | CA9724499 | SLC52A3 | c.*640C>T (n.*640C>T) c.920C>T (p.Pro307Leu) c.*16C>T (n.*16C>T) | dbSNP ExAC gnomAD v4 |
20 | g.761010G>C | CA9724498 | SLC52A3 | c.*640C>G (n.*640C>G) c.920C>G (p.Pro307Arg) c.*16C>G (n.*16C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.761010G= | CA2345348036 | SLC52A3 | c.*640C= (n.*640C=) c.920C= (p.Pro307=) c.*16C= (n.*16C=) | |
20 | g.761010G>T | CA634326138 | SLC52A3 | c.*640C>A (n.*640C>A) c.920C>A (p.Pro307Gln) c.*16C>A (n.*16C>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761013del | CA9724497 | SLC52A3 | c.*640del (n.*640del) c.920del (p.Pro307ArgfsTer28) c.*16del (n.*16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.761012_761013del | CA2345348035 | SLC52A3 | c.*639_*640del (n.*639_*640del) c.919_920del (p.Pro307AlafsTer29) c.*15_*16del (n.*15_*16del) | dbSNP |
20 | g.761011G>A | CA310673901 | SLC52A3 | c.*639C>T (n.*639C>T) c.919C>T (p.Pro307Ser) c.*15C>T (n.*15C>T) | dbSNP gnomAD v4 |
20 | g.761011G= | CA2345348037 | SLC52A3 | c.*639C= (n.*639C=) c.919C= (p.Pro307=) c.*15C= (n.*15C=) | |
20 | g.761011G>T | CA634326139 | SLC52A3 | c.*639C>A (n.*639C>A) c.919C>A (p.Pro307Thr) c.*15C>A (n.*15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.761012G>A | CA310673908 | SLC52A3 | c.*638C>T (n.*638C>T) c.918C>T (p.Thr306=) c.*14C>T (n.*14C>T) | dbSNP gnomAD v2 |
20 | g.761012G= | CA2345348038 | SLC52A3 | c.*638C= (n.*638C=) c.918C= (p.Thr306=) c.*14C= (n.*14C=) | |
20 | g.761013G>A | CA9724500 | SLC52A3 | c.*637C>T (n.*637C>T) c.917C>T (p.Thr306Ile) c.*13C>T (n.*13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.761013G= | CA2345348040 | SLC52A3 | c.*637C= (n.*637C=) c.917C= (p.Thr306=) c.*13C= (n.*13C=) | |
20 | g.761013G>T | CA9724501 | SLC52A3 | c.*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 |
20 | g.761013_761014delinsGT | CA2345348039 | SLC52A3 | c.*636_*637delinsAC (n.*636_*637delinsAC) c.916_917delinsAC (p.Thr306=) c.*12_*13delinsAC (n.*12_*13delinsAC) | |
20 | g.761014del | CA310673913 | SLC52A3 | c.*636del (n.*636del) c.916del (p.Thr306ProfsTer29) c.*12del (n.*12del) | dbSNP |
20 | g.761014T>C | CA9724502 | SLC52A3 | c.*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 |
20 | g.761014T= | CA2345348041 | SLC52A3 | c.*636A= (n.*636A=) c.916A= (p.Thr306=) c.*12A= (n.*12A=) | |
20 | g.761015C>T | CA2651546428 | SLC52A3 | c.*635G>A (n.*635G>A) c.915G>A (p.Pro305=) c.*11G>A (n.*11G>A) | gnomAD v4 |
20 | g.761016G>A | CA634326140 | SLC52A3 | c.*634C>T (n.*634C>T) c.914C>T (p.Pro305Leu) c.*10C>T (n.*10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.761016G= | CA2345348042 | SLC52A3 | c.*634C= (n.*634C=) c.914C= (p.Pro305=) c.*10C= (n.*10C=) | |
20 | g.761016G>T | CA2651546429 | SLC52A3 | c.*634C>A (n.*634C>A) c.914C>A (p.Pro305Gln) c.*10C>A (n.*10C>A) | gnomAD v4 |
20 | g.761017G>A | CA2651546430 | SLC52A3 | c.*633C>T (n.*633C>T) c.913C>T (p.Pro305Ser) c.*9C>T (n.*9C>T) | gnomAD v4 |
20 | g.761018C>A | CA2577315054 | SLC52A3 | c.*632G>T (n.*632G>T) c.912G>T (p.Pro304=) c.*8G>T (n.*8G>T) | gnomAD v4 |
20 | g.761018C= | CA2345348043 | SLC52A3 | c.*632G= (n.*632G=) c.912G= (p.Pro304=) c.*8G= (n.*8G=) | |
20 | g.761018C>T | CA746663290 | SLC52A3 | c.*632G>A (n.*632G>A) c.912G>A (p.Pro304=) c.*8G>A (n.*8G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.761019G>C | CA2651546431 | SLC52A3 | c.*631C>G (n.*631C>G) c.911C>G (p.Pro304Arg) c.*7C>G (n.*7C>G) | gnomAD v4 |
20 | g.761019G>T | CA2651546432 | SLC52A3 | c.*631C>A (n.*631C>A) c.911C>A (p.Pro304Gln) c.*7C>A (n.*7C>A) | gnomAD v4 |
20 | g.761020G>A | CA2651546433 | SLC52A3 | c.*630C>T (n.*630C>T) c.910C>T (p.Pro304Ser) c.*6C>T (n.*6C>T) | gnomAD v4 |
20 | g.761021C= | CA2345348044 | SLC52A3 | c.*629G= (n.*629G=) c.909G= (p.Arg303=) c.*5G= (n.*5G=) | |
20 | g.761021C>T | CA634326141 | SLC52A3 | c.*629G>A (n.*629G>A) c.909G>A (p.Arg303=) c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761023T>G | CA2345348046 | SLC52A3 | c.*627A>C (n.*627A>C) c.907A>C (p.Arg303=) c.*3A>C (n.*3A>C) | dbSNP |
20 | g.761023T= | CA2345348045 | SLC52A3 | c.*627A= (n.*627A=) c.907A= (p.Arg303=) c.*3A= (n.*3A=) | |
20 | g.761024G>A | CA310673915 | SLC52A3 | c.*626C>T (n.*626C>T) c.906C>T (p.Gly302=) c.*2C>T (n.*2C>T) n.957C>T | dbSNP gnomAD v4 |
20 | g.761024G>C | CA2651546434 | SLC52A3 | c.*626C>G (n.*626C>G) c.906C>G (p.Gly302=) c.*2C>G (n.*2C>G) n.957C>G | gnomAD v4 |
20 | g.761024G= | CA2345348047 | SLC52A3 | c.*626C= (n.*626C=) c.906C= (p.Gly302=) c.*2C= (n.*2C=) n.957C= | |
20 | g.761024G>T | CA2651546435 | SLC52A3 | c.*626C>A (n.*626C>A) c.906C>A (p.Gly302=) c.*2C>A (n.*2C>A) n.957C>A | gnomAD v4 |
20 | g.761024_761028delinsGCCTA | CA2345348048 | SLC52A3 | c.*622_*626delinsTAGGC (n.*622_*626delinsTAGGC) c.902_906delinsTAGGC (p.Leu301=) c.1408_*2delinsTAGGC (n.[c.1408_*2delinsTAGGC;Ter470=]) n.953_957delinsTAGGC | |
20 | g.761025C>A | CA2651546436 | SLC52A3 | c.*625G>T (n.*625G>T) c.905G>T (p.Gly302Val) c.*1G>T (n.*1G>T) n.956G>T | gnomAD v4 |
20 | g.761025C= | CA2345348050 | SLC52A3 | c.*625G= (n.*625G=) c.905G= (p.Gly302=) c.*1G= (n.*1G=) n.956G= | |
20 | g.761025C>T | CA634326142 | SLC52A3 | c.*625G>A (n.*625G>A) c.905G>A (p.Gly302Asp) c.*1G>A (n.*1G>A) n.956G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761026del | CA2577315055 | SLC52A3 | c.*625del (n.*625del) c.905del (p.Gly302AlafsTer?) c.*1del (n.*1del) n.956del | |
20 | g.761025_761028del | CA2345348049 | SLC52A3 | c.*622_*625del (n.*622_*625del) c.902_905del (p.Leu301ProfsTer?) c.1408_*1del (n.[c.1408_*1del;Ter470GlnextTer?]) n.953_956del | dbSNP |
20 | g.761026C>A | CA407961703 | SLC52A3 | c.*624G>T (n.*624G>T) c.904G>T (p.Gly302Cys) c.1410G>T (p.Ter470Tyr) n.955G>T | gnomAD v4 |
20 | g.761026C>G | CA407961704 | SLC52A3 | c.*624G>C (n.*624G>C) c.904G>C (p.Gly302Arg) c.1410G>C (p.Ter470Tyr) n.955G>C | |
20 | g.761026C>T | CA509341279 | SLC52A3 | c.*624G>A (n.*624G>A) c.904G>A (p.Gly302Ser) c.1410G>A (p.Ter470=) n.955G>A | |
20 | g.761027T>A | CA407961705 | SLC52A3 | c.*623A>T (n.*623A>T) c.903A>T (p.Leu301=) c.1409A>T (p.Ter470Leu) n.954A>T | |
20 | g.761027T>C | CA407961706 | SLC52A3 | c.*623A>G (n.*623A>G) c.903A>G (p.Leu301=) c.1409A>G (p.Ter470Trp) n.954A>G | |
20 | g.761027T>G | CA407961707 | SLC52A3 | c.*623A>C (n.*623A>C) c.903A>C (p.Leu301=) c.1409A>C (p.Ter470Ser) n.954A>C | |
20 | g.761028A>C | CA407961708 | SLC52A3 | c.*622T>G (n.*622T>G) c.902T>G (p.Leu301Arg) c.1408T>G (p.Ter470Glu) n.953T>G | |
20 | g.761028A>G | CA407961709 | SLC52A3 | c.*622T>C (n.*622T>C) c.902T>C (p.Leu301Pro) c.1408T>C (p.Ter470Gln) n.953T>C | |
20 | g.761028A>T | CA407961710 | SLC52A3 | c.*622T>A (n.*622T>A) c.902T>A (p.Leu301Gln) c.1408T>A (p.Ter470Lys) n.953T>A | |
20 | g.761029G>A | CA509341282 | SLC52A3 | c.*621C>T (n.*621C>T) c.901C>T (p.Leu301=) c.1407C>T (p.Ala469=) n.952C>T | dbSNP |
20 | g.761029G>C | CA509341281 | SLC52A3 | c.*621C>G (n.*621C>G) c.901C>G (p.Leu301Val) c.1407C>G (p.Ala469=) n.952C>G | ClinVar dbSNP gnomAD v4 |
20 | g.761029G= | CA2345348051 | SLC52A3 | c.*621C= (n.*621C=) c.901C= (p.Leu301=) c.1407C= (p.Ala469=) n.952C= | |
20 | g.761029G>T | CA509341280 | SLC52A3 | c.*621C>A (n.*621C>A) c.901C>A (p.Leu301Ile) c.1407C>A (p.Ala469=) n.952C>A | gnomAD v4 |
20 | g.761030G>A | CA407961713 | SLC52A3 | c.*620C>T (n.*620C>T) c.900C>T (p.Ser300=) c.1406C>T (p.Ala469Val) n.951C>T | gnomAD v4 |
20 | g.761030G>C | CA407961712 | SLC52A3 | c.*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 |
20 | g.761030G= | CA2345348052 | SLC52A3 | c.*620C= (n.*620C=) c.900C= (p.Ser300=) c.1406C= (p.Ala469=) n.951C= | |
20 | g.761030G>T | CA407961711 | SLC52A3 | c.*620C>A (n.*620C>A) c.900C>A (p.Ser300Arg) c.1406C>A (p.Ala469Asp) n.951C>A | dbSNP |
20 | g.761031C>A | CA407961714 | SLC52A3 | c.*619G>T (n.*619G>T) c.899G>T (p.Ser300Ile) c.1405G>T (p.Ala469Ser) n.950G>T | |
20 | g.761031C= | CA2345348053 | SLC52A3 | c.*619G= (n.*619G=) c.899G= (p.Ser300=) c.1405G= (p.Ala469=) n.950G= | |
20 | g.761031C>G | CA407961715 | SLC52A3 | c.*619G>C (n.*619G>C) c.899G>C (p.Ser300Thr) c.1405G>C (p.Ala469Pro) n.950G>C | gnomAD v4 |
20 | g.761031C>T | CA407961716 | SLC52A3 | c.*619G>A (n.*619G>A) c.899G>A (p.Ser300Asn) c.1405G>A (p.Ala469Thr) n.950G>A | dbSNP gnomAD v4 |
20 | g.761032T>A | CA509341283 | SLC52A3 | c.*618A>T (n.*618A>T) c.898A>T (p.Ser300Cys) c.1404A>T (p.Pro468=) n.949A>T | |
20 | g.761032T>C | CA509341284 | SLC52A3 | c.*618A>G (n.*618A>G) c.898A>G (p.Ser300Gly) c.1404A>G (p.Pro468=) n.949A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.761032T>G | CA509341285 | SLC52A3 | c.*618A>C (n.*618A>C) c.898A>C (p.Ser300Arg) c.1404A>C (p.Pro468=) n.949A>C | dbSNP |
20 | g.761032T= | CA2345348054 | SLC52A3 | c.*618A= (n.*618A=) c.898A= (p.Ser300=) c.1404A= (p.Pro468=) n.949A= | |
20 | g.761033G>A | CA407961717 | SLC52A3 | c.*617C>T (n.*617C>T) c.897C>T (p.Ser299=) c.1403C>T (p.Pro468Leu) n.948C>T | |
20 | g.761033G>C | CA407961718 | SLC52A3 | c.*617C>G (n.*617C>G) c.897C>G (p.Ser299=) c.1403C>G (p.Pro468Arg) n.948C>G | |
20 | g.761033G>T | CA407961719 | SLC52A3 | c.*617C>A (n.*617C>A) c.897C>A (p.Ser299=) c.1403C>A (p.Pro468Gln) n.948C>A | |
20 | g.761053_761054insGCAGGACAGTGCAGATTGCAGAAG | CA915952285 | SLC52A3 | c.*617_*618insTGCCTTCTGCAATCTGCACTGTCC (n.*617_*618insTGCCTTCTGCAATCTGCACTGTCC) c.897_898insTGCCTTCTGCAATCTGCACTGTCC (p.Ser299_Ser300insCysLeuLeuGlnSerAlaLeuSer) c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Pro468_Ala469insAlaPheCysAsnLeuHisCysPro) n.948_949insTGCCTTCTGCAATCTGCACTGTCC | ClinVar dbSNP |
20 | g.761034G>A | CA407961722 | SLC52A3 | c.*616C>T (n.*616C>T) c.896C>T (p.Ser299Phe) c.1402C>T (p.Pro468Ser) n.947C>T | |
20 | g.761034G>C | CA407961720 | SLC52A3 | c.*616C>G (n.*616C>G) c.896C>G (p.Ser299Cys) c.1402C>G (p.Pro468Ala) n.947C>G | |
20 | g.761034G>T | CA407961721 | SLC52A3 | c.*616C>A (n.*616C>A) c.896C>A (p.Ser299Tyr) c.1402C>A (p.Pro468Thr) n.947C>A | |
20 | g.761035A>C | CA407961723 | SLC52A3 | c.*615T>G (n.*615T>G) c.895T>G (p.Ser299Ala) c.1401T>G (p.Cys467Trp) n.946T>G | |
20 | g.761035A>G | CA509341286 | SLC52A3 | c.*615T>C (n.*615T>C) c.895T>C (p.Ser299Pro) c.1401T>C (p.Cys467=) n.946T>C | gnomAD v4 |
20 | g.761035A>T | CA407961724 | SLC52A3 | c.*615T>A (n.*615T>A) c.895T>A (p.Ser299Thr) c.1401T>A (p.Cys467Ter) n.946T>A | |
20 | g.761036C>A | CA407961725 | SLC52A3 | c.*614G>T (n.*614G>T) c.894G>T (p.Leu298=) c.1400G>T (p.Cys467Phe) n.945G>T | gnomAD v4 |
20 | g.761036C= | CA2345348055 | SLC52A3 | c.*614G= (n.*614G=) c.894G= (p.Leu298=) c.1400G= (p.Cys467=) n.945G= | |
20 | g.761036C>G | CA407961726 | SLC52A3 | c.*614G>C (n.*614G>C) c.894G>C (p.Leu298=) c.1400G>C (p.Cys467Ser) n.945G>C | gnomAD v4 |
20 | g.761036C>T | CA407961727 | SLC52A3 | c.*614G>A (n.*614G>A) c.894G>A (p.Leu298=) c.1400G>A (p.Cys467Tyr) n.945G>A | gnomAD v4 |
20 | g.761036_761037insT | CA2345348056 | SLC52A3 | c.*613_*614insA (n.*613_*614insA) c.893_894insA (p.Ser299ValfsTer?) c.1399_1400insA (p.Cys467Ter) n.944_945insA | dbSNP |
20 | g.761037A>C | CA407961728 | SLC52A3 | c.*613T>G (n.*613T>G) c.893T>G (p.Leu298Arg) c.1399T>G (p.Cys467Gly) n.944T>G | |
20 | g.761037A>G | CA407961730 | SLC52A3 | c.*613T>C (n.*613T>C) c.893T>C (p.Leu298Pro) c.1399T>C (p.Cys467Arg) n.944T>C | |
20 | g.761037A>T | CA407961729 | SLC52A3 | c.*613T>A (n.*613T>A) c.893T>A (p.Leu298Gln) c.1399T>A (p.Cys467Ser) n.944T>A | dbSNP |
20 | g.761038G>A | CA509341287 | SLC52A3 | c.*612C>T (n.*612C>T) c.892C>T (p.Leu298=) c.1398C>T (p.His466=) n.943C>T | gnomAD v4 |
20 | g.761038G>C | CA407961731 | SLC52A3 | c.*612C>G (n.*612C>G) c.892C>G (p.Leu298Val) c.1398C>G (p.His466Gln) n.943C>G | gnomAD v4 |
20 | g.761038G>T | CA407961732 | SLC52A3 | c.*612C>A (n.*612C>A) c.892C>A (p.Leu298Met) c.1398C>A (p.His466Gln) n.943C>A | gnomAD v4 |
20 | g.761039T>A | CA407961733 | SLC52A3 | c.*611A>T (n.*611A>T) c.891A>T (p.Ala297=) c.1397A>T (p.His466Leu) n.942A>T | |
20 | g.761039T>C | CA9724503 | SLC52A3 | c.*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 |
20 | g.761039T>G | CA407961734 | SLC52A3 | c.*611A>C (n.*611A>C) c.891A>C (p.Ala297=) c.1397A>C (p.His466Pro) n.942A>C | |
20 | g.761039T= | CA2345348057 | SLC52A3 | c.*611A= (n.*611A=) c.891A= (p.Ala297=) c.1397A= (p.His466=) n.942A= | |
20 | g.761040G>A | CA9724504 | SLC52A3 | c.*610C>T (n.*610C>T) c.890C>T (p.Ala297Val) c.1396C>T (p.His466Tyr) n.941C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.761040G>C | CA407961735 | SLC52A3 | c.*610C>G (n.*610C>G) c.890C>G (p.Ala297Gly) c.1396C>G (p.His466Asp) n.941C>G | |
20 | g.761040G= | CA2345348058 | SLC52A3 | c.*610C= (n.*610C=) c.890C= (p.Ala297=) c.1396C= (p.His466=) n.941C= | |
20 | g.761040G>T | CA407961736 | SLC52A3 | c.*610C>A (n.*610C>A) c.890C>A (p.Ala297Glu) c.1396C>A (p.His466Asn) n.941C>A | |
20 | g.761041C>A | CA509341288 | SLC52A3 | c.*609G>T (n.*609G>T) c.889G>T (p.Ala297Ser) c.1395G>T (p.Leu465=) n.940G>T | |
20 | g.761041C>G | CA509341289 | SLC52A3 | c.*609G>C (n.*609G>C) c.889G>C (p.Ala297Pro) c.1395G>C (p.Leu465=) n.940G>C | |
20 | g.761041C>T | CA509341290 | SLC52A3 | c.*609G>A (n.*609G>A) c.889G>A (p.Ala297Thr) c.1395G>A (p.Leu465=) n.940G>A | |
20 | g.761042A= | CA2345348059 | SLC52A3 | c.*608T= (n.*608T=) c.888T= (p.Ser296=) c.1394T= (p.Leu465=) n.939T= | |
20 | g.761042A>C | CA407961737 | SLC52A3 | c.*608T>G (n.*608T>G) c.888T>G (p.Ser296=) c.1394T>G (p.Leu465Arg) n.939T>G | |
20 | g.761042A>G | CA310673928 | SLC52A3 | c.*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 |
20 | g.761042A>T | CA407961738 | SLC52A3 | c.*608T>A (n.*608T>A) c.888T>A (p.Ser296=) c.1394T>A (p.Leu465Gln) n.939T>A | |
20 | g.761043G>A | CA509341291 | SLC52A3 | c.*607C>T (n.*607C>T) c.887C>T (p.Ser296Phe) c.1393C>T (p.Leu465=) n.938C>T | |
20 | g.761043G>C | CA407961740 | SLC52A3 | c.*607C>G (n.*607C>G) c.887C>G (p.Ser296Cys) c.1393C>G (p.Leu465Val) n.938C>G | COSMIC |
20 | g.761043G= | CA2345348060 | SLC52A3 | c.*607C= (n.*607C=) c.887C= (p.Ser296=) c.1393C= (p.Leu465=) n.938C= | |
20 | g.761043G>T | CA407961739 | SLC52A3 | c.*607C>A (n.*607C>A) c.887C>A (p.Ser296Tyr) c.1393C>A (p.Leu465Met) n.938C>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761044A>C | CA407961741 | SLC52A3 | c.*606T>G (n.*606T>G) c.886T>G (p.Ser296Ala) c.1392T>G (p.Asn464Lys) n.937T>G | |
20 | g.761044A>G | CA509341292 | SLC52A3 | c.*606T>C (n.*606T>C) c.886T>C (p.Ser296Pro) c.1392T>C (p.Asn464=) n.937T>C | |
20 | g.761044A>T | CA407961742 | SLC52A3 | c.*606T>A (n.*606T>A) c.886T>A (p.Ser296Thr) c.1392T>A (p.Asn464Lys) n.937T>A | |
20 | g.761045T>A | CA407961743 | SLC52A3 | c.*605A>T (n.*605A>T) c.885A>T (p.Gln295His) c.1391A>T (p.Asn464Ile) n.936A>T | |
20 | g.761045T>C | CA407961744 | SLC52A3 | c.*605A>G (n.*605A>G) c.885A>G (p.Gln295=) c.1391A>G (p.Asn464Ser) n.936A>G | |
20 | g.761045T>G | CA407961745 | SLC52A3 | c.*605A>C (n.*605A>C) c.885A>C (p.Gln295His) c.1391A>C (p.Asn464Thr) n.936A>C | |
20 | g.761046T>A | CA407961746 | SLC52A3 | c.*604A>T (n.*604A>T) c.884A>T (p.Gln295Leu) c.1390A>T (p.Asn464Tyr) n.935A>T | |
20 | g.761046T>C | CA407961747 | SLC52A3 | c.*604A>G (n.*604A>G) c.884A>G (p.Gln295Arg) c.1390A>G (p.Asn464Asp) n.935A>G | |
20 | g.761046T>G | CA407961748 | SLC52A3 | c.*604A>C (n.*604A>C) c.884A>C (p.Gln295Pro) c.1390A>C (p.Asn464His) n.935A>C | |
20 | g.761047G>A | CA509341293 | SLC52A3 | c.*603C>T (n.*603C>T) c.883C>T (p.Gln295Ter) c.1389C>T (p.Cys463=) n.934C>T | |
20 | g.761047G>C | CA407961749 | SLC52A3 | c.*603C>G (n.*603C>G) c.883C>G (p.Gln295Glu) c.1389C>G (p.Cys463Trp) n.934C>G | |
20 | g.761047G>T | CA407961750 | SLC52A3 | c.*603C>A (n.*603C>A) c.883C>A (p.Gln295Lys) c.1389C>A (p.Cys463Ter) n.934C>A | |
20 | g.761048C>A | CA407961751 | SLC52A3 | c.*602G>T (n.*602G>T) c.882G>T (p.Leu294=) c.1388G>T (p.Cys463Phe) n.933G>T | gnomAD v4 |
20 | g.761048C>G | CA407961752 | SLC52A3 | c.*602G>C (n.*602G>C) c.882G>C (p.Leu294=) c.1388G>C (p.Cys463Ser) n.933G>C | |
20 | g.761048C>T | CA407961753 | SLC52A3 | c.*602G>A (n.*602G>A) c.882G>A (p.Leu294=) c.1388G>A (p.Cys463Tyr) n.933G>A | |
20 | g.761049A= | CA2345348061 | SLC52A3 | c.*601T= (n.*601T=) c.881T= (p.Leu294=) c.1387T= (p.Cys463=) n.932T= | |
20 | g.761049A>C | CA407961754 | SLC52A3 | c.*601T>G (n.*601T>G) c.881T>G (p.Leu294Arg) c.1387T>G (p.Cys463Gly) n.932T>G | dbSNP |
20 | g.761049A>G | CA407961755 | SLC52A3 | c.*601T>C (n.*601T>C) c.881T>C (p.Leu294Pro) c.1387T>C (p.Cys463Arg) n.932T>C | |
20 | g.761049A>T | CA407961756 | SLC52A3 | c.*601T>A (n.*601T>A) c.881T>A (p.Leu294Gln) c.1387T>A (p.Cys463Ser) n.932T>A | |
20 | g.761050G>A | CA509341294 | SLC52A3 | c.*600C>T (n.*600C>T) c.880C>T (p.Leu294=) c.1386C>T (p.Phe462=) n.931C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761050G>C | CA407961757 | SLC52A3 | c.*600C>G (n.*600C>G) c.880C>G (p.Leu294Val) c.1386C>G (p.Phe462Leu) n.931C>G | |
20 | g.761050G= | CA2345348062 | SLC52A3 | c.*600C= (n.*600C=) c.880C= (p.Leu294=) c.1386C= (p.Phe462=) n.931C= | |
20 | g.761050G>T | CA9724505 | SLC52A3 | c.*600C>A (n.*600C>A) c.880C>A (p.Leu294Met) c.1386C>A (p.Phe462Leu) n.931C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.761051A>C | CA407961758 | SLC52A3 | c.*599T>G (n.*599T>G) c.879T>G (p.Leu293=) c.1385T>G (p.Phe462Cys) n.930T>G | |
20 | g.761051A>G | CA407961759 | SLC52A3 | c.*599T>C (n.*599T>C) c.879T>C (p.Leu293=) c.1385T>C (p.Phe462Ser) n.930T>C | gnomAD v4 |
20 | g.761051A>T | CA407961760 | SLC52A3 | c.*599T>A (n.*599T>A) c.879T>A (p.Leu293=) c.1385T>A (p.Phe462Tyr) n.930T>A | |
20 | g.761052A>C | CA407961761 | SLC52A3 | c.*598T>G (n.*598T>G) c.878T>G (p.Leu293Arg) c.1384T>G (p.Phe462Val) n.929T>G | |
20 | g.761052A>G | CA407961762 | SLC52A3 | c.*598T>C (n.*598T>C) c.878T>C (p.Leu293Pro) c.1384T>C (p.Phe462Leu) n.929T>C | gnomAD v4 |
20 | g.761052A>T | CA407961763 | SLC52A3 | c.*598T>A (n.*598T>A) c.878T>A (p.Leu293His) c.1384T>A (p.Phe462Ile) n.929T>A | |
20 | g.761053G>A | CA509341295 | SLC52A3 | c.*597C>T (n.*597C>T) c.877C>T (p.Leu293Phe) c.1383C>T (p.Asp461=) n.928C>T | |
20 | g.761053G>C | CA407961764 | SLC52A3 | c.*597C>G (n.*597C>G) c.877C>G (p.Leu293Val) c.1383C>G (p.Asp461Glu) n.928C>G | |
20 | g.761053G>T | CA407961765 | SLC52A3 | c.*597C>A (n.*597C>A) c.877C>A (p.Leu293Ile) c.1383C>A (p.Asp461Glu) n.928C>A | |
20 | g.761054T>A | CA407961766 | SLC52A3 | c.*596A>T (n.*596A>T) c.876A>T (p.Gly292=) c.1382A>T (p.Asp461Val) n.927A>T | |
20 | g.761054T>C | CA407961767 | SLC52A3 | c.*596A>G (n.*596A>G) c.876A>G (p.Gly292=) c.1382A>G (p.Asp461Gly) n.927A>G | |
20 | g.761054T>G | CA407961768 | SLC52A3 | c.*596A>C (n.*596A>C) c.876A>C (p.Gly292=) c.1382A>C (p.Asp461Ala) n.927A>C | |
20 | g.761054_761070delinsTCCGCGGACGAGAAGAG | CA2345348063 | SLC52A3 | c.*580_*596delinsCTCTTCTCGTCCGCGGA (n.*580_*596delinsCTCTTCTCGTCCGCGGA) c.860_876delinsCTCTTCTCGTCCGCGGA (p.Ala287=) c.1366_1382delinsCTCTTCTCGTCCGCGGA (p.Leu456=) n.911_927delinsCTCTTCTCGTCCGCGGA | |
20 | g.761055C>A | CA9724506 | SLC52A3 | c.*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 |
20 | g.761055C= | CA2345348064 | SLC52A3 | c.*595G= (n.*595G=) c.875G= (p.Gly292=) c.1381G= (p.Asp461=) n.926G= | |
20 | g.761055C>G | CA407961770 | SLC52A3 | c.*595G>C (n.*595G>C) c.875G>C (p.Gly292Ala) c.1381G>C (p.Asp461His) n.926G>C | |
20 | g.761055C>T | CA407961769 | SLC52A3 | c.*595G>A (n.*595G>A) c.875G>A (p.Gly292Glu) c.1381G>A (p.Asp461Asn) n.926G>A | |
20 | g.761059_761074del | CA634326143 | SLC52A3 | c.*580_*595del (n.*580_*595del) c.860_875del (p.Ala287AspfsTer10) c.1366_1381del (p.Leu456ThrfsTer?) n.911_926del | dbSNP gnomAD v2 gnomAD v4 |
20 | g.761056C>A | CA509341296 | SLC52A3 | c.*594G>T (n.*594G>T) c.874G>T (p.Gly292Ter) c.1380G>T (p.Ala460=) n.925G>T | dbSNP |
20 | g.761056C>G | CA509341297 | SLC52A3 | c.*594G>C (n.*594G>C) c.874G>C (p.Gly292Arg) c.1380G>C (p.Ala460=) n.925G>C | ClinVar gnomAD v4 |
20 | g.761056C>T | CA509341298 | SLC52A3 | c.*594G>A (n.*594G>A) c.874G>A (p.Gly292Arg) c.1380G>A (p.Ala460=) n.925G>A | gnomAD v4 |
20 | g.761057G>A | CA407961771 | SLC52A3 | c.*593C>T (n.*593C>T) c.873C>T (p.Arg291=) c.1379C>T (p.Ala460Val) n.924C>T | dbSNP |
20 | g.761057G>C | CA407961772 | SLC52A3 | c.*593C>G (n.*593C>G) c.873C>G (p.Arg291=) c.1379C>G (p.Ala460Gly) n.924C>G | |
20 | g.761057G= | CA2345348065 | SLC52A3 | c.*593C= (n.*593C=) c.873C= (p.Arg291=) c.1379C= (p.Ala460=) n.924C= | |
20 | g.761057G>T | CA407961773 | SLC52A3 | c.*593C>A (n.*593C>A) c.873C>A (p.Arg291=) c.1379C>A (p.Ala460Glu) n.924C>A | |
20 | g.761058C>A | CA407961774 | SLC52A3 | c.*592G>T (n.*592G>T) c.872G>T (p.Arg291Leu) c.1378G>T (p.Ala460Ser) n.923G>T | |
20 | g.761058C= | CA2345348066 | SLC52A3 | c.*592G= (n.*592G=) c.872G= (p.Arg291=) c.1378G= (p.Ala460=) n.923G= | |
20 | g.761058C>G | CA407961775 | SLC52A3 | c.*592G>C (n.*592G>C) c.872G>C (p.Arg291Pro) c.1378G>C (p.Ala460Pro) n.923G>C | |
20 | g.761058C>T | CA407961776 | SLC52A3 | c.*592G>A (n.*592G>A) c.872G>A (p.Arg291His) c.1378G>A (p.Ala460Thr) n.923G>A | dbSNP gnomAD v2 gnomAD v4 |