Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73640868A=CA1261057023NAT8c.*77T= (n.*77T=)
2g.73640868A>GCA892866929NAT8c.*77T>C (n.*77T>C)
dbSNP gnomAD v4
2g.73640869T>CCA534125737NAT8c.*76A>G (n.*76A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73640869T=CA1261057024NAT8c.*76A= (n.*76A=)
2g.73640870delCA2659622904NAT8c.*76del (n.*76del)
gnomAD v4
2g.73640870T>CCA892866932NAT8c.*75A>G (n.*75A>G)
dbSNP gnomAD v3 gnomAD v4
2g.73640870T>GCA2659622905NAT8c.*75A>C (n.*75A>C)
gnomAD v4
2g.73640870T=CA1261057025NAT8c.*75A= (n.*75A=)
2g.73640871G>ACA2659622906NAT8c.*74C>T (n.*74C>T)
gnomAD v4
2g.73640871G>CCA2659622907NAT8c.*74C>G (n.*74C>G)
gnomAD v4
2g.73640871G=CA1261057026NAT8c.*74C= (n.*74C=)
2g.73640871G>TCA50370783NAT8c.*74C>A (n.*74C>A)
dbSNP gnomAD v3 gnomAD v4
2g.73640872C>TCA2659622908NAT8c.*73G>A (n.*73G>A)
gnomAD v4
2g.73640873A>GCA2659622909NAT8c.*72T>C (n.*72T>C)
gnomAD v4
2g.73640874G>ACA2659622910NAT8c.*71C>T (n.*71C>T)
gnomAD v4
2g.73640874G>CCA2659622911NAT8c.*71C>G (n.*71C>G)
gnomAD v4
2g.73640874G>TCA2659622912NAT8c.*71C>A (n.*71C>A)
gnomAD v4
2g.73640875T>GCA50370788NAT8c.*70A>C (n.*70A>C)
dbSNP gnomAD v3 gnomAD v4
2g.73640875T=CA1261057027NAT8c.*70A= (n.*70A=)
2g.73640875dupCA2659622913NAT8c.*70dup (n.*70dup)
gnomAD v4
2g.73640876G>CCA50370790NAT8c.*69C>G (n.*69C>G)
dbSNP gnomAD v3 gnomAD v4
2g.73640876G=CA1261057028NAT8c.*69C= (n.*69C=)
2g.73640876G>TCA2577005371NAT8c.*69C>A (n.*69C>A)
gnomAD v4
2g.73640878A=CA1261057029NAT8c.*67T= (n.*67T=)
2g.73640878A>GCA50370791NAT8c.*67T>C (n.*67T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73640879A=CA1261057030NAT8c.*66T= (n.*66T=)
2g.73640879A>GCA1032223354NAT8c.*66T>C (n.*66T>C)
dbSNP gnomAD v3 gnomAD v4
2g.73640880G>TCA2577005372NAT8c.*65C>A (n.*65C>A)
2g.73640882_73640887delCA2600435854NAT8c.*60_*65del (n.*60_*65del)
gnomAD v3 gnomAD v4
2g.73640881G>ACA2577005373NAT8c.*64C>T (n.*64C>T)
2g.73640881G=CA1261057032NAT8c.*64C= (n.*64C=)
2g.73640881G>TCA1032223357NAT8c.*64C>A (n.*64C>A)
dbSNP gnomAD v3 gnomAD v4
2g.73640881_73640882delinsGTCA1261057031NAT8c.*63_*64delinsAC (n.*63_*64delinsAC)
2g.73640882T>ACA1261057034NAT8c.*63A>T (n.*63A>T)
dbSNP
2g.73640882T=CA1261057033NAT8c.*63A= (n.*63A=)
2g.73640883delCA892866935NAT8c.*63del (n.*63del)
dbSNP gnomAD v3 gnomAD v4
2g.73640884G>ACA1261057036NAT8c.*61C>T (n.*61C>T)
dbSNP gnomAD v4
2g.73640884G=CA1261057035NAT8c.*61C= (n.*61C=)
2g.73640884G>TCA892866938NAT8c.*61C>A (n.*61C>A)
dbSNP gnomAD v3 gnomAD v4
2g.73640885G>ACA2740288067NAT8c.*60C>T (n.*60C>T)
2g.73640885G>CCA2577005374NAT8c.*60C>G (n.*60C>G)
dbSNP gnomAD v3 gnomAD v4
2g.73640885G>TCA2577005375NAT8c.*60C>A (n.*60C>A)
gnomAD v4
2g.73640886G>CCA1261057038NAT8c.*59C>G (n.*59C>G)
dbSNP
2g.73640886G=CA1261057037NAT8c.*59C= (n.*59C=)
2g.73640886G>TCA2577005376NAT8c.*59C>A (n.*59C>A)
2g.73640887G>TCA2659622914NAT8c.*58C>A (n.*58C>A)
gnomAD v4
2g.73640888A>TCA2577005377NAT8c.*57T>A (n.*57T>A)
gnomAD v4
2g.73640889T>CCA1261057040NAT8c.*56A>G (n.*56A>G)
dbSNP gnomAD v4
2g.73640889T=CA1261057039NAT8c.*56A= (n.*56A=)
2g.73640891G>ACA50370792NAT8c.*54C>T (n.*54C>T)
dbSNP gnomAD v4
2g.73640891G=CA1261057041NAT8c.*54C= (n.*54C=)
2g.73640892C=CA1261057042NAT8c.*53G= (n.*53G=)
2g.73640892C>GCA1032223359NAT8c.*53G>C (n.*53G>C)
dbSNP gnomAD v3 gnomAD v4
2g.73640892C>TCA2659622915NAT8c.*53G>A (n.*53G>A)
gnomAD v4
2g.73640894T>GCA1261057044NAT8c.*51A>C (n.*51A>C)
dbSNP
2g.73640894T=CA1261057043NAT8c.*51A= (n.*51A=)
2g.73640895G>ACA2659622916NAT8c.*50C>T (n.*50C>T)
gnomAD v4
2g.73640895G>TCA2659622917NAT8c.*50C>A (n.*50C>A)
gnomAD v4
2g.73640896C>GCA2659622918NAT8c.*49G>C (n.*49G>C)
gnomAD v4
2g.73640897T>CCA1715615NAT8c.*48A>G (n.*48A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640897T=CA1261057045NAT8c.*48A= (n.*48A=)
2g.73640898G>ACA534125738NAT8c.*47C>T (n.*47C>T)
dbSNP gnomAD v2
2g.73640898G>CCA1261057047NAT8c.*47C>G (n.*47C>G)
dbSNP
2g.73640898G=CA1261057046NAT8c.*47C= (n.*47C=)
2g.73640898G>TCA2577005378NAT8c.*47C>A (n.*47C>A)
gnomAD v4
2g.73640899C>TCA2659622919NAT8c.*46G>A (n.*46G>A)
gnomAD v4
2g.73640900T>CCA1261057049NAT8c.*45A>G (n.*45A>G)
dbSNP gnomAD v4
2g.73640900T=CA1261057048NAT8c.*45A= (n.*45A=)
2g.73640901A=CA1261057050NAT8c.*44T= (n.*44T=)
2g.73640901A>CCA2659622920NAT8c.*44T>G (n.*44T>G)
gnomAD v4
2g.73640901A>GCA892866944NAT8c.*44T>C (n.*44T>C)
dbSNP gnomAD v4
2g.73640902C>ACA2659622921NAT8c.*43G>T (n.*43G>T)
gnomAD v4
2g.73640902C>TCA2577005379NAT8c.*43G>A (n.*43G>A)
gnomAD v4
2g.73640903A>CCA2659622922NAT8c.*42T>G (n.*42T>G)
gnomAD v4
2g.73640903A>GCA2659622923NAT8c.*42T>C (n.*42T>C)
gnomAD v4
2g.73640904G>ACA534125739NAT8c.*41C>T (n.*41C>T)
dbSNP gnomAD v2
2g.73640904G>CCA2659622924NAT8c.*41C>G (n.*41C>G)
gnomAD v4
2g.73640904G=CA1261057051NAT8c.*41C= (n.*41C=)
2g.73640904G>TCA2577005380NAT8c.*41C>A (n.*41C>A)
gnomAD v4
2g.73640905C>ACA2659622925NAT8c.*40G>T (n.*40G>T)
gnomAD v4
2g.73640906T>CCA1715616NAT8c.*39A>G (n.*39A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640906T=CA1261057052NAT8c.*39A= (n.*39A=)
2g.73640907G>ACA2659622926NAT8c.*38C>T (n.*38C>T)
gnomAD v4
2g.73640907G>TCA2659622927NAT8c.*38C>A (n.*38C>A)
gnomAD v4
2g.73640909A=CA1261057053NAT8c.*36T= (n.*36T=)
2g.73640909A>GCA1715617NAT8c.*36T>C (n.*36T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640910T>ACA2659622928NAT8c.*35A>T (n.*35A>T)
gnomAD v4
2g.73640910T>CCA2659622929NAT8c.*35A>G (n.*35A>G)
gnomAD v4
2g.73640911G>TCA2659622930NAT8c.*34C>A (n.*34C>A)
gnomAD v4
2g.73640912G>TCA2659622931NAT8c.*33C>A (n.*33C>A)
gnomAD v4
2g.73640914T>ACA892866950NAT8c.*31A>T (n.*31A>T)
dbSNP gnomAD v3 gnomAD v4
2g.73640914T>CCA534125740NAT8c.*31A>G (n.*31A>G)
dbSNP gnomAD v2 gnomAD v4
2g.73640914T=CA1261057054NAT8c.*31A= (n.*31A=)
2g.73640916C>ACA2659622932NAT8c.*29G>T (n.*29G>T)
gnomAD v4
2g.73640917T>CCA2659622933NAT8c.*28A>G (n.*28A>G)
gnomAD v4
2g.73640918A=CA1261057055NAT8c.*27T= (n.*27T=)
2g.73640918A>GCA50370809NAT8c.*27T>C (n.*27T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73640920T>GCA1261057057NAT8c.*25A>C (n.*25A>C)
dbSNP
2g.73640920T=CA1261057056NAT8c.*25A= (n.*25A=)
2g.73640923G>ACA2534979113NAT8c.*22C>T (n.*22C>T)
2g.73640923G>TCA2659622934NAT8c.*22C>A (n.*22C>A)
gnomAD v4
2g.73640924A>TCA2659622935NAT8c.*21T>A (n.*21T>A)
gnomAD v4
2g.73640925C=CA1261057058NAT8c.*20G= (n.*20G=)
2g.73640925C>GCA1032223366NAT8c.*20G>C (n.*20G>C)
dbSNP gnomAD v3 gnomAD v4
2g.73640925C>TCA892866952NAT8c.*20G>A (n.*20G>A)
dbSNP gnomAD v4
2g.73640926C>ACA1261057060NAT8c.*19G>T (n.*19G>T)
dbSNP gnomAD v4
2g.73640926C=CA1261057059NAT8c.*19G= (n.*19G=)
2g.73640926C>TCA2561506473NAT8c.*19G>A (n.*19G>A)
gnomAD v4
2g.73640927A=CA1261057061NAT8c.*18T= (n.*18T=)
2g.73640927A>CCA1261057062NAT8c.*18T>G (n.*18T>G)
dbSNP
2g.73640927A>GCA2659622936NAT8c.*18T>C (n.*18T>C)
gnomAD v4
2g.73640928A=CA1261057063NAT8c.*17T= (n.*17T=)
2g.73640928A>GCA534125741NAT8c.*17T>C (n.*17T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73640929T>ACA534125742NAT8c.*16A>T (n.*16A>T)
dbSNP gnomAD v2
2g.73640929T>CCA2659622937NAT8c.*16A>G (n.*16A>G)
gnomAD v4
2g.73640929T=CA1261057064NAT8c.*16A= (n.*16A=)
2g.73640933_73640936delCA2659622938NAT8c.*12_*15del (n.*12_*15del)
gnomAD v4
2g.73640931C>TCA2577005381NAT8c.*14G>A (n.*14G>A)
2g.73640932A>GCA2659622939NAT8c.*13T>C (n.*13T>C)
gnomAD v4
2g.73640933C=CA1261057065NAT8c.*12G= (n.*12G=)
2g.73640933C>GCA1715618NAT8c.*12G>C (n.*12G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640933C>TCA1261057066NAT8c.*12G>A (n.*12G>A)
dbSNP
2g.73640934A>GCA2659622940NAT8c.*11T>C (n.*11T>C)
gnomAD v4
2g.73640935C>ACA1715620NAT8c.*10G>T (n.*10G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640935C=CA1261057067NAT8c.*10G= (n.*10G=)
2g.73640935C>GCA1715619NAT8c.*10G>C (n.*10G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640936A=CA1261057068NAT8c.*9T= (n.*9T=)
2g.73640936A>CCA2659622942NAT8c.*9T>G (n.*9T>G)
gnomAD v4
2g.73640936A>GCA1715621NAT8c.*9T>C (n.*9T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640936A>TCA534125743NAT8c.*9T>A (n.*9T>A)
dbSNP gnomAD v2 gnomAD v4
2g.73640937_73640938delCA2659622941NAT8c.*8_*9del (n.*8_*9del)
gnomAD v4
2g.73640937G>ACA1261057069NAT8c.*8C>T (n.*8C>T)
dbSNP
2g.73640937G=CA1261057070NAT8c.*8C= (n.*8C=)
2g.73640939_73640941delinsAAGCA1261057071NAT8c.*4_*6delinsCTT (n.*4_*6delinsCTT)
2g.73640940A=CA1261057072NAT8c.*5T= (n.*5T=)
2g.73640940A>GCA534125744NAT8c.*5T>C (n.*5T>C)
dbSNP gnomAD v2 gnomAD v4
2g.73640943_73640944delCA1715622NAT8c.*4_*5del (n.*4_*5del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640941G>ACA2577005382NAT8c.*4C>T (n.*4C>T)
gnomAD v4
2g.73640941G=CA1261057073NAT8c.*4C= (n.*4C=)
2g.73640941G>TCA892866964NAT8c.*4C>A (n.*4C>A)
dbSNP
2g.73640942A=CA1261057074NAT8c.*3T= (n.*3T=)
2g.73640942A>TCA50370820NAT8c.*3T>A (n.*3T>A)
dbSNP
2g.73640943G>ACA1715624NAT8c.*2C>T (n.*2C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640943G=CA1261057075NAT8c.*2C= (n.*2C=)
2g.73640943G>TCA1715623NAT8c.*2C>A (n.*2C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640944A=CA1261057076NAT8c.*1T= (n.*1T=)
2g.73640944A>CCA1715625NAT8c.*1T>G (n.*1T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640945T>ACA347285955NAT8c.684A>T (p.Ter228Cys)
2g.73640945T>CCA347285956NAT8c.684A>G (p.Ter228Trp)
gnomAD v4
2g.73640945T>GCA347285958NAT8c.684A>C (p.Ter228Cys)
2g.73640945dupCA534125745NAT8c.684dup (n.684dup)
dbSNP gnomAD v2 gnomAD v4
2g.73640946C>ACA347285961NAT8c.683G>T (p.Ter228Leu)
gnomAD v4
2g.73640946C=CA1261057077NAT8c.683G= (p.Ter228=)
2g.73640946C>GCA347285962NAT8c.683G>C (p.Ter228Ser)
2g.73640946C>TCA1715626NAT8c.683G>A (p.Ter228=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640948_73640949delCA2577005383NAT8c.682_683del (p.Ter228IleextTer10)
gnomAD v4
2g.73640947A=CA1261057078NAT8c.682T= (p.Ter228=)
2g.73640947A>CCA347285965NAT8c.682T>G (p.Ter228Gly)
2g.73640947A>GCA1715627NAT8c.682T>C (p.Ter228Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640947A>TCA347285967NAT8c.682T>A (p.Ter228Arg)
2g.73640948C>ACA427024242NAT8c.681G>T (p.Leu227=)
2g.73640948C=CA1261057079NAT8c.681G= (p.Leu227=)
2g.73640948C>GCA1715629NAT8c.681G>C (p.Leu227=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640948C>TCA1715628NAT8c.681G>A (p.Leu227=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640949A=CA1261057080NAT8c.680T= (p.Leu227=)
2g.73640949A>CCA347285972NAT8c.680T>G (p.Leu227Arg)
2g.73640949A>GCA347285973NAT8c.680T>C (p.Leu227Pro)
2g.73640949A>TCA50370850NAT8c.680T>A (p.Leu227Gln)
dbSNP
2g.73640950G>ACA427024244NAT8c.679C>T (p.Leu227=)
2g.73640950G>CCA347285975NAT8c.679C>G (p.Leu227Val)
2g.73640950G>TCA347285977NAT8c.679C>A (p.Leu227Met)
2g.73640951A=CA1261057081NAT8c.678T= (p.Ser226=)
2g.73640951A>CCA347285979NAT8c.678T>G (p.Ser226Arg)
dbSNP
2g.73640951A>GCA427024245NAT8c.678T>C (p.Ser226=)
2g.73640951A>TCA347285981NAT8c.678T>A (p.Ser226Arg)
dbSNP gnomAD v2 gnomAD v4
2g.73640952C>ACA347285984NAT8c.677G>T (p.Ser226Ile)
2g.73640952C=CA1261057082NAT8c.677G= (p.Ser226=)
2g.73640952C>GCA1715630NAT8c.677G>C (p.Ser226Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640952C>TCA347285986NAT8c.677G>A (p.Ser226Asn)
2g.73640953T>ACA347285992NAT8c.676A>T (p.Ser226Cys)
2g.73640953T>CCA347285988NAT8c.676A>G (p.Ser226Gly)
2g.73640953T>GCA1715631NAT8c.676A>C (p.Ser226Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640953T=CA1261057083NAT8c.676A= (p.Ser226=)
2g.73640954C>ACA427024247NAT8c.675G>T (p.Gly225=)
2g.73640954C>GCA427024248NAT8c.675G>C (p.Gly225=)
2g.73640954C>TCA427024249NAT8c.675G>A (p.Gly225=)
2g.73640955C>ACA347285994NAT8c.674G>T (p.Gly225Val)
2g.73640955C=CA1261057084NAT8c.674G= (p.Gly225=)
2g.73640955C>GCA347285995NAT8c.674G>C (p.Gly225Ala)
2g.73640955C>TCA347285998NAT8c.674G>A (p.Gly225Glu)
dbSNP gnomAD v2 gnomAD v4
2g.73640956C>ACA347286000NAT8c.673G>T (p.Gly225Trp)
2g.73640956C>GCA347286002NAT8c.673G>C (p.Gly225Arg)
gnomAD v4
2g.73640956C>TCA347286004NAT8c.673G>A (p.Gly225Arg)
2g.73640957T>ACA427024252NAT8c.672A>T (p.Val224=)
gnomAD v4
2g.73640957T>CCA427024251NAT8c.672A>G (p.Val224=)
dbSNP
2g.73640957T>GCA427024250NAT8c.672A>C (p.Val224=)
2g.73640957T=CA1261057085NAT8c.672A= (p.Val224=)
2g.73640958A=CA1261057086NAT8c.671T= (p.Val224=)
2g.73640958A>CCA347286006NAT8c.671T>G (p.Val224Gly)
2g.73640958A>GCA1715632NAT8c.671T>C (p.Val224Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640958A>TCA347286009NAT8c.671T>A (p.Val224Glu)
2g.73640959C>ACA347286012NAT8c.670G>T (p.Val224Leu)
gnomAD v4
2g.73640959C=CA1261057087NAT8c.670G= (p.Val224=)
2g.73640959C>GCA347286013NAT8c.670G>C (p.Val224Leu)
2g.73640959C>TCA1715633NAT8c.670G>A (p.Val224Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640959_73640961delinsCCTCA1261057088NAT8c.668_670delinsAGG (p.Lys223=)
2g.73640960C>ACA347286015NAT8c.669G>T (p.Lys223Asn)
2g.73640960C>GCA347286019NAT8c.669G>C (p.Lys223Asn)
2g.73640960C>TCA427024254NAT8c.669G>A (p.Lys223=)
2g.73640960_73640961delCA892866997NAT8c.668_669del (p.Lys223SerfsTer15)
dbSNP
2g.73640961T>ACA347286021NAT8c.668A>T (p.Lys223Met)
2g.73640961T>CCA347286024NAT8c.668A>G (p.Lys223Arg)
2g.73640961T>GCA347286022NAT8c.668A>C (p.Lys223Thr)
2g.73640962T>ACA347286026NAT8c.667A>T (p.Lys223Ter)
2g.73640962T>CCA347286028NAT8c.667A>G (p.Lys223Glu)
2g.73640962T>GCA50370854NAT8c.667A>C (p.Lys223Gln)
dbSNP gnomAD v4
2g.73640962T=CA1261057090NAT8c.667A= (p.Lys223=)
2g.73640962_73640965delinsTAGACA1261057089NAT8c.664_667delinsTCTA (p.Ser222=)
2g.73640963A>CCA427024255NAT8c.666T>G (p.Ser222=)
2g.73640963A>GCA427024256NAT8c.666T>C (p.Ser222=)
2g.73640963A>TCA427024258NAT8c.666T>A (p.Ser222=)
2g.73640968_73640970delCA892867001NAT8c.664_666del (p.Ser222del)
dbSNP gnomAD v3 gnomAD v4
2g.73640964G>ACA347286031NAT8c.665C>T (p.Ser222Phe)
dbSNP COSMIC
2g.73640964G>CCA347286032NAT8c.665C>G (p.Ser222Cys)
2g.73640964G=CA1261057091NAT8c.665C= (p.Ser222=)
2g.73640964G>TCA347286033NAT8c.665C>A (p.Ser222Tyr)
gnomAD v4
2g.73640965A=CA1261057092NAT8c.664T= (p.Ser222=)
2g.73640965A>CCA50370855NAT8c.664T>G (p.Ser222Ala)
dbSNP
2g.73640965A>GCA347286037NAT8c.664T>C (p.Ser222Pro)
2g.73640965A>TCA347286039NAT8c.664T>A (p.Ser222Thr)
2g.73640966A>CCA427024261NAT8c.663T>G (p.Ser221=)
2g.73640966A>GCA427024262NAT8c.663T>C (p.Ser221=)
2g.73640966A>TCA427024263NAT8c.663T>A (p.Ser221=)
2g.73640967G>ACA50370857NAT8c.662C>T (p.Ser221Phe)
dbSNP gnomAD v4
2g.73640967G>CCA347286042NAT8c.662C>G (p.Ser221Cys)
2g.73640967G=CA1261057093NAT8c.662C= (p.Ser221=)
2g.73640967G>TCA1715634NAT8c.662C>A (p.Ser221Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched