Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189564023G>ACA430503086SLC40A1c.963C>T (p.Val321=)
c.843C>T (p.Val281=)
2g.189564023G>CCA430503088SLC40A1c.963C>G (p.Val321=)
c.843C>G (p.Val281=)
2g.189564023G>TCA430503087SLC40A1c.963C>A (p.Val321=)
c.843C>A (p.Val281=)
2g.189564024A>CCA349988029SLC40A1c.962T>G (p.Val321Gly)
c.842T>G (p.Val281Gly)
2g.189564024A>GCA349988027SLC40A1c.962T>C (p.Val321Ala)
c.842T>C (p.Val281Ala)
2g.189564024A>TCA349988028SLC40A1c.962T>A (p.Val321Asp)
c.842T>A (p.Val281Asp)
2g.189564025C>ACA349988030SLC40A1c.961G>T (p.Val321Phe)
c.841G>T (p.Val281Phe)
2g.189564025C=CA1315654305SLC40A1c.961G= (p.Val321=)
c.841G= (p.Val281=)
2g.189564025C>GCA349988031SLC40A1c.961G>C (p.Val321Leu)
c.841G>C (p.Val281Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189564025C>TCA349988032SLC40A1c.961G>A (p.Val321Ile)
c.841G>A (p.Val281Ile)
2g.189564027_189564030dupCA2577188084SLC40A1c.958_961dup (p.Val321AspfsTer6)
c.838_841dup (p.Val281AspfsTer6)
2g.189564026A>CCA430503091SLC40A1c.960T>G (p.Thr320=)
c.840T>G (p.Thr280=)
2g.189564026A>GCA430503092SLC40A1c.960T>C (p.Thr320=)
c.840T>C (p.Thr280=)
2g.189564026A>TCA430503093SLC40A1c.960T>A (p.Thr320=)
c.840T>A (p.Thr280=)
2g.189564027G>ACA349988033SLC40A1c.959C>T (p.Thr320Ile)
c.839C>T (p.Thr280Ile)
 dbSNP
2g.189564027G>CCA349988034SLC40A1c.959C>G (p.Thr320Ser)
c.839C>G (p.Thr280Ser)
2g.189564027G=CA1315654306SLC40A1c.959C= (p.Thr320=)
c.839C= (p.Thr280=)
2g.189564027G>TCA349988035SLC40A1c.959C>A (p.Thr320Asn)
c.839C>A (p.Thr280Asn)
2g.189564028T>ACA349988038SLC40A1c.958A>T (p.Thr320Ser)
c.838A>T (p.Thr280Ser)
2g.189564028T>CCA349988037SLC40A1c.958A>G (p.Thr320Ala)
c.838A>G (p.Thr280Ala)
2g.189564028T>GCA349988036SLC40A1c.958A>C (p.Thr320Pro)
c.838A>C (p.Thr280Pro)
2g.189564028_189564029delinsTCCA1315654310SLC40A1c.957_958delinsGA (p.Met319=)
c.837_838delinsGA (p.Met279=)
2g.189564029delCA913189702SLC40A1c.957del (p.Met319IlefsTer19)
c.837del (p.Met279IlefsTer19)
 ClinVar dbSNP
2g.189564029C>ACA349988041SLC40A1c.957G>T (p.Met319Ile)
c.837G>T (p.Met279Ile)
2g.189564029C>GCA349988039SLC40A1c.957G>C (p.Met319Ile)
c.837G>C (p.Met279Ile)
2g.189564029C>TCA349988040SLC40A1c.957G>A (p.Met319Ile)
c.837G>A (p.Met279Ile)
 ClinVar
2g.189564030A>CCA349988042SLC40A1c.956T>G (p.Met319Arg)
c.836T>G (p.Met279Arg)
2g.189564030A>GCA349988043SLC40A1c.956T>C (p.Met319Thr)
c.836T>C (p.Met279Thr)
2g.189564030A>TCA349988044SLC40A1c.956T>A (p.Met319Lys)
c.836T>A (p.Met279Lys)
2g.189564031T>ACA349988045SLC40A1c.955A>T (p.Met319Leu)
c.835A>T (p.Met279Leu)
2g.189564031T>CCA349988046SLC40A1c.955A>G (p.Met319Val)
c.835A>G (p.Met279Val)
2g.189564031T>GCA349988047SLC40A1c.955A>C (p.Met319Leu)
c.835A>C (p.Met279Leu)
2g.189564032A=CA1315654319SLC40A1c.954T= (p.Tyr318=)
c.834T= (p.Tyr278=)
2g.189564032A>CCA349988048SLC40A1c.954T>G (p.Tyr318Ter)
c.834T>G (p.Tyr278Ter)
2g.189564032A>GCA430503096SLC40A1c.954T>C (p.Tyr318=)
c.834T>C (p.Tyr278=)
 dbSNP gnomAD v3 gnomAD v4
2g.189564032A>TCA349988049SLC40A1c.954T>A (p.Tyr318Ter)
c.834T>A (p.Tyr278Ter)
2g.189564033T>ACA349988050SLC40A1c.953A>T (p.Tyr318Phe)
c.833A>T (p.Tyr278Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.189564033T>CCA349988051SLC40A1c.953A>G (p.Tyr318Cys)
c.833A>G (p.Tyr278Cys)
 gnomAD v4
2g.189564033T>GCA349988052SLC40A1c.953A>C (p.Tyr318Ser)
c.833A>C (p.Tyr278Ser)
2g.189564033T=CA1315654321SLC40A1c.953A= (p.Tyr318=)
c.833A= (p.Tyr278=)
2g.189564034A>CCA349988055SLC40A1c.952T>G (p.Tyr318Asp)
c.832T>G (p.Tyr278Asp)
2g.189564034A>GCA349988054SLC40A1c.952T>C (p.Tyr318His)
c.832T>C (p.Tyr278His)
2g.189564034A>TCA349988053SLC40A1c.952T>A (p.Tyr318Asn)
c.832T>A (p.Tyr278Asn)
2g.189564038_189564042delCA2662328693SLC40A1c.948_952del (p.Phe316LeufsTer8)
c.828_832del (p.Phe276LeufsTer8)
 gnomAD v4
2g.189564034_189564035insCCA2753593829SLC40A1c.951_952insG (p.Tyr318ValfsTer8)
c.831_832insG (p.Tyr278ValfsTer8)
2g.189564035A>CCA430502439SLC40A1c.951T>G (p.Leu317=)
c.831T>G (p.Leu277=)
2g.189564035A>GCA430502445SLC40A1c.951T>C (p.Leu317=)
c.831T>C (p.Leu277=)
 gnomAD v4
2g.189564035A>TCA430502440SLC40A1c.951T>A (p.Leu317=)
c.831T>A (p.Leu277=)
2g.189564036A>CCA349988056SLC40A1c.950T>G (p.Leu317Arg)
c.830T>G (p.Leu277Arg)
2g.189564036A>GCA349988057SLC40A1c.950T>C (p.Leu317Pro)
c.830T>C (p.Leu277Pro)
2g.189564036A>TCA349988058SLC40A1c.950T>A (p.Leu317His)
c.830T>A (p.Leu277His)
2g.189564037G>ACA349988059SLC40A1c.949C>T (p.Leu317Phe)
c.829C>T (p.Leu277Phe)
 COSMIC
2g.189564037G>CCA349988060SLC40A1c.949C>G (p.Leu317Val)
c.829C>G (p.Leu277Val)
2g.189564037G>TCA349988061SLC40A1c.949C>A (p.Leu317Ile)
c.829C>A (p.Leu277Ile)
2g.189564037_189564038delCA2753593830SLC40A1c.948_949del (p.Met319AspfsTer6)
c.828_829del (p.Met279AspfsTer6)
2g.189564038G>ACA430502449SLC40A1c.948C>T (p.Phe316=)
c.828C>T (p.Phe276=)
 gnomAD v4 COSMIC
2g.189564038G>CCA349988062SLC40A1c.948C>G (p.Phe316Leu)
c.828C>G (p.Phe276Leu)
2g.189564038G>TCA349988063SLC40A1c.948C>A (p.Phe316Leu)
c.828C>A (p.Phe276Leu)
2g.189564039A>CCA349988064SLC40A1c.947T>G (p.Phe316Cys)
c.827T>G (p.Phe276Cys)
2g.189564039A>GCA349988065SLC40A1c.947T>C (p.Phe316Ser)
c.827T>C (p.Phe276Ser)
2g.189564039A>TCA349988066SLC40A1c.947T>A (p.Phe316Tyr)
c.827T>A (p.Phe276Tyr)
2g.189564040A>CCA349988067SLC40A1c.946T>G (p.Phe316Val)
c.826T>G (p.Phe276Val)
2g.189564040A>GCA349988068SLC40A1c.946T>C (p.Phe316Leu)
c.826T>C (p.Phe276Leu)
2g.189564040A>TCA349988069SLC40A1c.946T>A (p.Phe316Ile)
c.826T>A (p.Phe276Ile)
2g.189564041A>CCA430502455SLC40A1c.945T>G (p.Ala315=)
c.825T>G (p.Ala275=)
2g.189564041A>GCA430502457SLC40A1c.945T>C (p.Ala315=)
c.825T>C (p.Ala275=)
2g.189564041A>TCA430502458SLC40A1c.945T>A (p.Ala315=)
c.825T>A (p.Ala275=)
2g.189564041_189564042insTCA2753593831SLC40A1c.944_945insA (p.Leu317ProfsTer9)
c.824_825insA (p.Leu277ProfsTer9)
2g.189564042G>ACA349988071SLC40A1c.944C>T (p.Ala315Val)
c.824C>T (p.Ala275Val)
 COSMIC
2g.189564042G>CCA62902905SLC40A1c.944C>G (p.Ala315Gly)
c.824C>G (p.Ala275Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.189564042G=CA1315654327SLC40A1c.944C= (p.Ala315=)
c.824C= (p.Ala275=)
2g.189564042G>TCA349988070SLC40A1c.944C>A (p.Ala315Asp)
c.824C>A (p.Ala275Asp)
2g.189564043C>ACA349988072SLC40A1c.943G>T (p.Ala315Ser)
c.823G>T (p.Ala275Ser)
2g.189564043C>GCA349988073SLC40A1c.943G>C (p.Ala315Pro)
c.823G>C (p.Ala275Pro)
 gnomAD v4
2g.189564043C>TCA349988074SLC40A1c.943G>A (p.Ala315Thr)
c.823G>A (p.Ala275Thr)
2g.189564044A>CCA430502467SLC40A1c.942T>G (p.Leu314=)
c.822T>G (p.Leu274=)
2g.189564044A>GCA430502466SLC40A1c.942T>C (p.Leu314=)
c.822T>C (p.Leu274=)
2g.189564044A>TCA430502465SLC40A1c.942T>A (p.Leu314=)
c.822T>A (p.Leu274=)
2g.189564045A>CCA349988075SLC40A1c.941T>G (p.Leu314Arg)
c.821T>G (p.Leu274Arg)
2g.189564045A>GCA349988076SLC40A1c.941T>C (p.Leu314Pro)
c.821T>C (p.Leu274Pro)
2g.189564045A>TCA349988077SLC40A1c.941T>A (p.Leu314His)
c.821T>A (p.Leu274His)
2g.189564046G>ACA349988078SLC40A1c.940C>T (p.Leu314Phe)
c.820C>T (p.Leu274Phe)
2g.189564046G>CCA349988079SLC40A1c.940C>G (p.Leu314Val)
c.820C>G (p.Leu274Val)
2g.189564046G>TCA349988080SLC40A1c.940C>A (p.Leu314Ile)
c.820C>A (p.Leu274Ile)
2g.189564047A=CA1315654330SLC40A1c.939T= (p.Gly313=)
c.819T= (p.Gly273=)
2g.189564047A>CCA430502471SLC40A1c.939T>G (p.Gly313=)
c.819T>G (p.Gly273=)
 dbSNP
2g.189564047A>GCA430502472SLC40A1c.939T>C (p.Gly313=)
c.819T>C (p.Gly273=)
 gnomAD v4
2g.189564047A>TCA430502473SLC40A1c.939T>A (p.Gly313=)
c.819T>A (p.Gly273=)
2g.189564048C>ACA349988081SLC40A1c.938G>T (p.Gly313Val)
c.818G>T (p.Gly273Val)
2g.189564048C>GCA349988082SLC40A1c.938G>C (p.Gly313Ala)
c.818G>C (p.Gly273Ala)
 COSMIC
2g.189564048C>TCA349988083SLC40A1c.938G>A (p.Gly313Asp)
c.818G>A (p.Gly273Asp)
2g.189564049C>ACA349988086SLC40A1c.937G>T (p.Gly313Cys)
c.817G>T (p.Gly273Cys)
2g.189564049C=CA1315654332SLC40A1c.937G= (p.Gly313=)
c.817G= (p.Gly273=)
2g.189564049C>GCA349988084SLC40A1c.937G>C (p.Gly313Arg)
c.817G>C (p.Gly273Arg)
2g.189564049C>TCA349988085SLC40A1c.937G>A (p.Gly313Ser)
c.817G>A (p.Gly273Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189564050C>ACA349988087SLC40A1c.936G>T (p.Met312Ile)
c.816G>T (p.Met272Ile)
2g.189564050C>GCA349988088SLC40A1c.936G>C (p.Met312Ile)
c.816G>C (p.Met272Ile)
2g.189564050C>TCA349988089SLC40A1c.936G>A (p.Met312Ile)
c.816G>A (p.Met272Ile)
2g.189564051A>CCA349988090SLC40A1c.935T>G (p.Met312Arg)
c.815T>G (p.Met272Arg)
2g.189564051A>GCA349988091SLC40A1c.935T>C (p.Met312Thr)
c.815T>C (p.Met272Thr)
2g.189564051A>TCA349988092SLC40A1c.935T>A (p.Met312Lys)
c.815T>A (p.Met272Lys)
2g.189564051_189564052delCA2662328706SLC40A1c.934_935del (p.Met312GlyfsTer13)
c.814_815del (p.Met272GlyfsTer13)
 gnomAD v4
2g.189564052T>ACA349988093SLC40A1c.934A>T (p.Met312Leu)
c.814A>T (p.Met272Leu)
2g.189564052T>CCA349988094SLC40A1c.934A>G (p.Met312Val)
c.814A>G (p.Met272Val)
 dbSNP
2g.189564052T>GCA349988095SLC40A1c.934A>C (p.Met312Leu)
c.814A>C (p.Met272Leu)
2g.189564052T=CA1315654335SLC40A1c.934A= (p.Met312=)
c.814A= (p.Met272=)
2g.189564053G>ACA430502487SLC40A1c.933C>T (p.Gly311=)
c.813C>T (p.Gly271=)
 dbSNP gnomAD v2
2g.189564053G>CCA430502490SLC40A1c.933C>G (p.Gly311=)
c.813C>G (p.Gly271=)
2g.189564053G=CA1315654337SLC40A1c.933C= (p.Gly311=)
c.813C= (p.Gly271=)
2g.189564053G>TCA430502492SLC40A1c.933C>A (p.Gly311=)
c.813C>A (p.Gly271=)
 COSMIC
2g.189564054C>ACA349988096SLC40A1c.932G>T (p.Gly311Val)
c.812G>T (p.Gly271Val)
 gnomAD v4
2g.189564054C>GCA349988097SLC40A1c.932G>C (p.Gly311Ala)
c.812G>C (p.Gly271Ala)
2g.189564054C>TCA349988098SLC40A1c.932G>A (p.Gly311Asp)
c.812G>A (p.Gly271Asp)
2g.189564055C>ACA349988100SLC40A1c.931G>T (p.Gly311Cys)
c.811G>T (p.Gly271Cys)
2g.189564055C>GCA349988101SLC40A1c.931G>C (p.Gly311Arg)
c.811G>C (p.Gly271Arg)
2g.189564055C>TCA349988099SLC40A1c.931G>A (p.Gly311Ser)
c.811G>A (p.Gly271Ser)
2g.189564056A>CCA430502493SLC40A1c.930T>G (p.Ala310=)
c.810T>G (p.Ala270=)
2g.189564056A>GCA430502494SLC40A1c.930T>C (p.Ala310=)
c.810T>C (p.Ala270=)
 ClinVar gnomAD v4
2g.189564056A>TCA430502496SLC40A1c.930T>A (p.Ala310=)
c.810T>A (p.Ala270=)
2g.189564057G>ACA349988102SLC40A1c.929C>T (p.Ala310Val)
c.809C>T (p.Ala270Val)
2g.189564057G>CCA349988104SLC40A1c.929C>G (p.Ala310Gly)
c.809C>G (p.Ala270Gly)
2g.189564057G>TCA349988103SLC40A1c.929C>A (p.Ala310Asp)
c.809C>A (p.Ala270Asp)
2g.189564058C>ACA349988105SLC40A1c.928G>T (p.Ala310Ser)
c.808G>T (p.Ala270Ser)
2g.189564058C>GCA349988107SLC40A1c.928G>C (p.Ala310Pro)
c.808G>C (p.Ala270Pro)
2g.189564058C>TCA349988106SLC40A1c.928G>A (p.Ala310Thr)
c.808G>A (p.Ala270Thr)
2g.189564059C>ACA430502499SLC40A1c.927G>T (p.Leu309=)
c.807G>T (p.Leu269=)
2g.189564059C=CA1315654340SLC40A1c.927G= (p.Leu309=)
c.807G= (p.Leu269=)
2g.189564059C>GCA430502500SLC40A1c.927G>C (p.Leu309=)
c.807G>C (p.Leu269=)
 dbSNP
2g.189564059C>TCA430502501SLC40A1c.927G>A (p.Leu309=)
c.807G>A (p.Leu269=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564060A>CCA349988108SLC40A1c.926T>G (p.Leu309Arg)
c.806T>G (p.Leu269Arg)
2g.189564060A>GCA349988109SLC40A1c.926T>C (p.Leu309Pro)
c.806T>C (p.Leu269Pro)
2g.189564060A>TCA349988110SLC40A1c.926T>A (p.Leu309Gln)
c.806T>A (p.Leu269Gln)
2g.189564061G>ACA430502508SLC40A1c.925C>T (p.Leu309=)
c.805C>T (p.Leu269=)
2g.189564061G>CCA349988111SLC40A1c.925C>G (p.Leu309Val)
c.805C>G (p.Leu269Val)
2g.189564061G>TCA349988112SLC40A1c.925C>A (p.Leu309Met)
c.805C>A (p.Leu269Met)
2g.189564062A>CCA349988113SLC40A1c.924T>G (p.Phe308Leu)
c.804T>G (p.Phe268Leu)
 gnomAD v4
2g.189564062A>GCA430502509SLC40A1c.924T>C (p.Phe308=)
c.804T>C (p.Phe268=)
 gnomAD v4
2g.189564062A>TCA349988114SLC40A1c.924T>A (p.Phe308Leu)
c.804T>A (p.Phe268Leu)
2g.189564063A>CCA349988115SLC40A1c.923T>G (p.Phe308Cys)
c.803T>G (p.Phe268Cys)
2g.189564063A>GCA349988116SLC40A1c.923T>C (p.Phe308Ser)
c.803T>C (p.Phe268Ser)
2g.189564063A>TCA349988117SLC40A1c.923T>A (p.Phe308Tyr)
c.803T>A (p.Phe268Tyr)
2g.189564064A>CCA349988120SLC40A1c.922T>G (p.Phe308Val)
c.802T>G (p.Phe268Val)
2g.189564064A>GCA349988119SLC40A1c.922T>C (p.Phe308Leu)
c.802T>C (p.Phe268Leu)
2g.189564064A>TCA349988118SLC40A1c.922T>A (p.Phe308Ile)
c.802T>A (p.Phe268Ile)
2g.189564065C>ACA430502514SLC40A1c.921G>T (p.Val307=)
c.801G>T (p.Val267=)
 gnomAD v4
2g.189564065C>GCA430502519SLC40A1c.921G>C (p.Val307=)
c.801G>C (p.Val267=)
2g.189564065C>TCA430502516SLC40A1c.921G>A (p.Val307=)
c.801G>A (p.Val267=)
2g.189564066A>CCA349988121SLC40A1c.920T>G (p.Val307Gly)
c.800T>G (p.Val267Gly)
2g.189564066A>GCA349988122SLC40A1c.920T>C (p.Val307Ala)
c.800T>C (p.Val267Ala)
2g.189564066A>TCA349988123SLC40A1c.920T>A (p.Val307Glu)
c.800T>A (p.Val267Glu)
2g.189564067C>ACA349988124SLC40A1c.919G>T (p.Val307Leu)
c.799G>T (p.Val267Leu)
2g.189564067C=CA1315654343SLC40A1c.919G= (p.Val307=)
c.799G= (p.Val267=)
2g.189564067C>GCA349988125SLC40A1c.919G>C (p.Val307Leu)
c.799G>C (p.Val267Leu)
2g.189564067C>TCA349988126SLC40A1c.919G>A (p.Val307Met)
c.799G>A (p.Val267Met)
 dbSNP
2g.189564068A=CA1315654347SLC40A1c.918T= (p.Pro306=)
c.798T= (p.Pro266=)
2g.189564068A>CCA430502525SLC40A1c.918T>G (p.Pro306=)
c.798T>G (p.Pro266=)
2g.189564068A>GCA430502527SLC40A1c.918T>C (p.Pro306=)
c.798T>C (p.Pro266=)
 dbSNP gnomAD v4
2g.189564068A>TCA430502529SLC40A1c.918T>A (p.Pro306=)
c.798T>A (p.Pro266=)
2g.189564069G>ACA349988127SLC40A1c.917C>T (p.Pro306Leu)
c.797C>T (p.Pro266Leu)
2g.189564069G>CCA62902906SLC40A1c.917C>G (p.Pro306Arg)
c.797C>G (p.Pro266Arg)
 dbSNP
2g.189564069G=CA1315654350SLC40A1c.917C= (p.Pro306=)
c.797C= (p.Pro266=)
2g.189564069G>TCA349988128SLC40A1c.917C>A (p.Pro306His)
c.797C>A (p.Pro266His)
2g.189564070G>ACA349988129SLC40A1c.916C>T (p.Pro306Ser)
c.796C>T (p.Pro266Ser)
 gnomAD v4
2g.189564070G>CCA349988130SLC40A1c.916C>G (p.Pro306Ala)
c.796C>G (p.Pro266Ala)
2g.189564070G>TCA349988131SLC40A1c.916C>A (p.Pro306Thr)
c.796C>A (p.Pro266Thr)
 COSMIC
2g.189564071C>ACA349988133SLC40A1c.915G>T (p.Gln305His)
c.795G>T (p.Gln265His)
2g.189564071C>GCA349988132SLC40A1c.915G>C (p.Gln305His)
c.795G>C (p.Gln265His)
2g.189564071C>TCA430502534SLC40A1c.915G>A (p.Gln305=)
c.795G>A (p.Gln265=)
2g.189564072T>ACA349988134SLC40A1c.914A>T (p.Gln305Leu)
c.794A>T (p.Gln265Leu)
2g.189564072T>CCA349988135SLC40A1c.914A>G (p.Gln305Arg)
c.794A>G (p.Gln265Arg)
2g.189564072T>GCA349988136SLC40A1c.914A>C (p.Gln305Pro)
c.794A>C (p.Gln265Pro)
2g.189564073G>ACA349988137SLC40A1c.913C>T (p.Gln305Ter)
c.793C>T (p.Gln265Ter)
2g.189564073G>CCA349988138SLC40A1c.913C>G (p.Gln305Glu)
c.793C>G (p.Gln265Glu)
2g.189564073G=CA1315654354SLC40A1c.913C= (p.Gln305=)
c.793C= (p.Gln265=)
2g.189564073G>TCA349988139SLC40A1c.913C>A (p.Gln305Lys)
c.793C>A (p.Gln265Lys)
 dbSNP gnomAD v4
2g.189564074G>ACA430502538SLC40A1c.912C>T (p.Asn304=)
c.792C>T (p.Asn264=)
 ClinVar dbSNP gnomAD v4
2g.189564074G>CCA349988140SLC40A1c.912C>G (p.Asn304Lys)
c.792C>G (p.Asn264Lys)
 gnomAD v4
2g.189564074G=CA1315654355SLC40A1c.912C= (p.Asn304=)
c.792C= (p.Asn264=)
2g.189564074G>TCA349988141SLC40A1c.912C>A (p.Asn304Lys)
c.792C>A (p.Asn264Lys)
2g.189564075T>ACA349988142SLC40A1c.911A>T (p.Asn304Ile)
c.791A>T (p.Asn264Ile)
2g.189564075T>CCA349988143SLC40A1c.911A>G (p.Asn304Ser)
c.791A>G (p.Asn264Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564075T>GCA349988144SLC40A1c.911A>C (p.Asn304Thr)
c.791A>C (p.Asn264Thr)
2g.189564075T=CA1315654360SLC40A1c.911A= (p.Asn304=)
c.791A= (p.Asn264=)
2g.189564076T>ACA349988145SLC40A1c.910A>T (p.Asn304Tyr)
c.790A>T (p.Asn264Tyr)
2g.189564076T>CCA349988146SLC40A1c.910A>G (p.Asn304Asp)
c.790A>G (p.Asn264Asp)
2g.189564076T>GCA349988147SLC40A1c.910A>C (p.Asn304His)
c.790A>C (p.Asn264His)
2g.189564077G>ACA430502543SLC40A1c.909C>T (p.Tyr303=)
c.789C>T (p.Tyr263=)
2g.189564077G>CCA349988148SLC40A1c.909C>G (p.Tyr303Ter)
c.789C>G (p.Tyr263Ter)
2g.189564077G>TCA349988149SLC40A1c.909C>A (p.Tyr303Ter)
c.789C>A (p.Tyr263Ter)
2g.189564078T>ACA349988150SLC40A1c.908A>T (p.Tyr303Phe)
c.788A>T (p.Tyr263Phe)
2g.189564078T>CCA349988151SLC40A1c.908A>G (p.Tyr303Cys)
c.788A>G (p.Tyr263Cys)
 gnomAD v4
2g.189564078T>GCA349988152SLC40A1c.908A>C (p.Tyr303Ser)
c.788A>C (p.Tyr263Ser)
2g.189564079A>CCA349988153SLC40A1c.907T>G (p.Tyr303Asp)
c.787T>G (p.Tyr263Asp)
2g.189564079A>GCA349988154SLC40A1c.907T>C (p.Tyr303His)
c.787T>C (p.Tyr263His)
2g.189564079A>TCA349988155SLC40A1c.907T>A (p.Tyr303Asn)
c.787T>A (p.Tyr263Asn)
 gnomAD v4
2g.189564080G>ACA430502549SLC40A1c.906C>T (p.Tyr302=)
c.786C>T (p.Tyr262=)
2g.189564080G>CCA349988156SLC40A1c.906C>G (p.Tyr302Ter)
c.786C>G (p.Tyr262Ter)
2g.189564080G>TCA349988157SLC40A1c.906C>A (p.Tyr302Ter)
c.786C>A (p.Tyr262Ter)
2g.189564081T>ACA349988158SLC40A1c.905A>T (p.Tyr302Phe)
c.785A>T (p.Tyr262Phe)
2g.189564081T>CCA349988159SLC40A1c.905A>G (p.Tyr302Cys)
c.785A>G (p.Tyr262Cys)
 gnomAD v4
2g.189564081T>GCA349988160SLC40A1c.905A>C (p.Tyr302Ser)
c.785A>C (p.Tyr262Ser)
2g.189564082A>CCA349988163SLC40A1c.904T>G (p.Tyr302Asp)
c.784T>G (p.Tyr262Asp)
2g.189564082A>GCA349988162SLC40A1c.904T>C (p.Tyr302His)
c.784T>C (p.Tyr262His)
2g.189564082A>TCA349988161SLC40A1c.904T>A (p.Tyr302Asn)
c.784T>A (p.Tyr262Asn)
2g.189564083G>ACA430502555SLC40A1c.903C>T (p.Ser301=)
c.783C>T (p.Ser261=)
2g.189564083G>CCA430502556SLC40A1c.903C>G (p.Ser301=)
c.783C>G (p.Ser261=)
2g.189564083G>TCA430502557SLC40A1c.903C>A (p.Ser301=)
c.783C>A (p.Ser261=)
2g.189564084G>ACA349988164SLC40A1c.902C>T (p.Ser301Phe)
c.782C>T (p.Ser261Phe)
 gnomAD v4
2g.189564084G>CCA349988166SLC40A1c.902C>G (p.Ser301Cys)
c.782C>G (p.Ser261Cys)
2g.189564084G>TCA349988165SLC40A1c.902C>A (p.Ser301Tyr)
c.782C>A (p.Ser261Tyr)
2g.189564085A>CCA349988167SLC40A1c.901T>G (p.Ser301Ala)
c.781T>G (p.Ser261Ala)
2g.189564085A>GCA349988168SLC40A1c.901T>C (p.Ser301Pro)
c.781T>C (p.Ser261Pro)
2g.189564085A>TCA349988169SLC40A1c.901T>A (p.Ser301Thr)
c.781T>A (p.Ser261Thr)
2g.189564086G>ACA430502563SLC40A1c.900C>T (p.Val300=)
c.780C>T (p.Val260=)
2g.189564086G>CCA430502564SLC40A1c.900C>G (p.Val300=)
c.780C>G (p.Val260=)
2g.189564086G>TCA430502565SLC40A1c.900C>A (p.Val300=)
c.780C>A (p.Val260=)
2g.189564087A=CA1315654362SLC40A1c.899T= (p.Val300=)
c.779T= (p.Val260=)
2g.189564087A>CCA349988170SLC40A1c.899T>G (p.Val300Gly)
c.779T>G (p.Val260Gly)
 dbSNP
2g.189564087A>GCA349988171SLC40A1c.899T>C (p.Val300Ala)
c.779T>C (p.Val260Ala)
 gnomAD v4
2g.189564087A>TCA349988172SLC40A1c.899T>A (p.Val300Asp)
c.779T>A (p.Val260Asp)
2g.189564088C>ACA349988173SLC40A1c.898G>T (p.Val300Phe)
c.778G>T (p.Val260Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.189564088C=CA1315654366SLC40A1c.898G= (p.Val300=)
c.778G= (p.Val260=)
2g.189564088C>GCA349988174SLC40A1c.898G>C (p.Val300Leu)
c.778G>C (p.Val260Leu)
2g.189564088C>TCA349988175SLC40A1c.898G>A (p.Val300Ile)
c.778G>A (p.Val260Ile)
 gnomAD v4
2g.189564089C>ACA2024131SLC40A1c.897G>T (p.Trp299Cys)
c.777G>T (p.Trp259Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564089C=CA1315654370SLC40A1c.897G= (p.Trp299=)
c.777G= (p.Trp259=)
2g.189564089C>GCA349988176SLC40A1c.897G>C (p.Trp299Cys)
c.777G>C (p.Trp259Cys)
2g.189564089C>TCA349988177SLC40A1c.897G>A (p.Trp299Ter)
c.777G>A (p.Trp259Ter)
2g.189564090C>ACA349988180SLC40A1c.896G>T (p.Trp299Leu)
c.776G>T (p.Trp259Leu)
2g.189564090C>GCA349988178SLC40A1c.896G>C (p.Trp299Ser)
c.776G>C (p.Trp259Ser)
2g.189564090C>TCA349988179SLC40A1c.896G>A (p.Trp299Ter)
c.776G>A (p.Trp259Ter)
 COSMIC
2g.189564091A>CCA349988181SLC40A1c.895T>G (p.Trp299Gly)
c.775T>G (p.Trp259Gly)
2g.189564091A>GCA349988182SLC40A1c.895T>C (p.Trp299Arg)
c.775T>C (p.Trp259Arg)
2g.189564091A>TCA349988183SLC40A1c.895T>A (p.Trp299Arg)
c.775T>A (p.Trp259Arg)
2g.189564092T>ACA430502575SLC40A1c.894A>T (p.Gly298=)
c.774A>T (p.Gly258=)
 dbSNP gnomAD v4
2g.189564092T>CCA430502576SLC40A1c.894A>G (p.Gly298=)
c.774A>G (p.Gly258=)
2g.189564092T>GCA430502577SLC40A1c.894A>C (p.Gly298=)
c.774A>C (p.Gly258=)
2g.189564092T=CA1315654373SLC40A1c.894A= (p.Gly298=)
c.774A= (p.Gly258=)
2g.189564093C>ACA349988184SLC40A1c.893G>T (p.Gly298Val)
c.773G>T (p.Gly258Val)
 dbSNP
2g.189564093C=CA1315654375SLC40A1c.893G= (p.Gly298=)
c.773G= (p.Gly258=)
2g.189564093C>GCA349988185SLC40A1c.893G>C (p.Gly298Ala)
c.773G>C (p.Gly258Ala)
2g.189564093C>TCA349988186SLC40A1c.893G>A (p.Gly298Glu)
c.773G>A (p.Gly258Glu)
 COSMIC
2g.189564094C>ACA349988187SLC40A1c.892G>T (p.Gly298Ter)
c.772G>T (p.Gly258Ter)
2g.189564094C>GCA349988188SLC40A1c.892G>C (p.Gly298Arg)
c.772G>C (p.Gly258Arg)
2g.189564094C>TCA349988189SLC40A1c.892G>A (p.Gly298Arg)
c.772G>A (p.Gly258Arg)
2g.189564095A=CA1315654377SLC40A1c.891T= (p.Asp297=)
c.771T= (p.Asp257=)
2g.189564095A>CCA2024132SLC40A1c.891T>G (p.Asp297Glu)
c.771T>G (p.Asp257Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564095A>GCA430502580SLC40A1c.891T>C (p.Asp297=)
c.771T>C (p.Asp257=)
 dbSNP gnomAD v2 gnomAD v4
2g.189564095A>TCA349988190SLC40A1c.891T>A (p.Asp297Glu)
c.771T>A (p.Asp257Glu)
2g.189564096T>ACA349988193SLC40A1c.890A>T (p.Asp297Val)
c.770A>T (p.Asp257Val)
2g.189564096T>CCA349988192SLC40A1c.890A>G (p.Asp297Gly)
c.770A>G (p.Asp257Gly)
2g.189564096T>GCA349988191SLC40A1c.890A>C (p.Asp297Ala)
c.770A>C (p.Asp257Ala)
2g.189564097C>ACA349988194SLC40A1c.889G>T (p.Asp297Tyr)
c.769G>T (p.Asp257Tyr)
2g.189564097C>GCA349988195SLC40A1c.889G>C (p.Asp297His)
c.769G>C (p.Asp257His)
2g.189564097C>TCA349988196SLC40A1c.889G>A (p.Asp297Asn)
c.769G>A (p.Asp257Asn)
 gnomAD v4
2g.189564098T>ACA430502587SLC40A1c.888A>T (p.Arg296=)
c.768A>T (p.Arg256=)
 ClinVar gnomAD v4
2g.189564098T>CCA430502588SLC40A1c.888A>G (p.Arg296=)
c.768A>G (p.Arg256=)
2g.189564098T>GCA430502589SLC40A1c.888A>C (p.Arg296=)
c.768A>C (p.Arg256=)
2g.189564099C>ACA349988197SLC40A1c.887G>T (p.Arg296Leu)
c.767G>T (p.Arg256Leu)
2g.189564099C=CA1315654381SLC40A1c.887G= (p.Arg296=)
c.767G= (p.Arg256=)
2g.189564099C>GCA349988198SLC40A1c.887G>C (p.Arg296Pro)
c.767G>C (p.Arg256Pro)
2g.189564099C>TCA2024133SLC40A1c.887G>A (p.Arg296Gln)
c.767G>A (p.Arg256Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189564100G>ACA349988199SLC40A1c.886C>T (p.Arg296Ter)
c.766C>T (p.Arg256Ter)
 gnomAD v4
2g.189564100G>CCA2024134SLC40A1c.886C>G (p.Arg296Gly)
c.766C>G (p.Arg256Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564100G=CA1315654385SLC40A1c.886C= (p.Arg296=)
c.766C= (p.Arg256=)
2g.189564100G>TCA430502593SLC40A1c.886C>A (p.Arg296=)
c.766C>A (p.Arg256=)
2g.189564101G>ACA430502594SLC40A1c.885C>T (p.Phe295=)
c.765C>T (p.Phe255=)
2g.189564101G>CCA349988200SLC40A1c.885C>G (p.Phe295Leu)
c.765C>G (p.Phe255Leu)
2g.189564101G>TCA349988201SLC40A1c.885C>A (p.Phe295Leu)
c.765C>A (p.Phe255Leu)
2g.189564102A>CCA349988202SLC40A1c.884T>G (p.Phe295Cys)
c.764T>G (p.Phe255Cys)
2g.189564102A>GCA349988203SLC40A1c.884T>C (p.Phe295Ser)
c.764T>C (p.Phe255Ser)
2g.189564102A>TCA349988204SLC40A1c.884T>A (p.Phe295Tyr)
c.764T>A (p.Phe255Tyr)
2g.189564103A>CCA349988207SLC40A1c.883T>G (p.Phe295Val)
c.763T>G (p.Phe255Val)
2g.189564103A>GCA349988205SLC40A1c.883T>C (p.Phe295Leu)
c.763T>C (p.Phe255Leu)
2g.189564103A>TCA349988206SLC40A1c.883T>A (p.Phe295Ile)
c.763T>A (p.Phe255Ile)
2g.189564104G>ACA430502596SLC40A1c.882C>T (p.Thr294=)
c.762C>T (p.Thr254=)
 dbSNP
2g.189564104G>CCA430502597SLC40A1c.882C>G (p.Thr294=)
c.762C>G (p.Thr254=)
2g.189564104G=CA1315654387SLC40A1c.882C= (p.Thr294=)
c.762C= (p.Thr254=)
2g.189564104G>TCA430502598SLC40A1c.882C>A (p.Thr294=)
c.762C>A (p.Thr254=)
2g.189564105G>ACA349988208SLC40A1c.881C>T (p.Thr294Ile)
c.761C>T (p.Thr254Ile)
2g.189564105G>CCA349988209SLC40A1c.881C>G (p.Thr294Ser)
c.761C>G (p.Thr254Ser)
2g.189564105G>TCA349988210SLC40A1c.881C>A (p.Thr294Asn)
c.761C>A (p.Thr254Asn)
2g.189564106T>ACA349988211SLC40A1c.880A>T (p.Thr294Ser)
c.760A>T (p.Thr254Ser)
2g.189564106T>CCA349988212SLC40A1c.880A>G (p.Thr294Ala)
c.760A>G (p.Thr254Ala)
2g.189564106T>GCA349988213SLC40A1c.880A>C (p.Thr294Pro)
c.760A>C (p.Thr254Pro)
2g.189564107A>CCA430502603SLC40A1c.879T>G (p.Arg293=)
c.759T>G (p.Arg253=)
2g.189564107A>GCA430502604SLC40A1c.879T>C (p.Arg293=)
c.759T>C (p.Arg253=)
 gnomAD v4
2g.189564107A>TCA430502605SLC40A1c.879T>A (p.Arg293=)
c.759T>A (p.Arg253=)
2g.189564108C>ACA349988214SLC40A1c.878G>T (p.Arg293Leu)
c.758G>T (p.Arg253Leu)
 gnomAD v4
2g.189564108C=CA1315654390SLC40A1c.878G= (p.Arg293=)
c.758G= (p.Arg253=)
2g.189564108C>GCA349988215SLC40A1c.878G>C (p.Arg293Pro)
c.758G>C (p.Arg253Pro)
2g.189564108C>TCA2024135SLC40A1c.878G>A (p.Arg293His)
c.758G>A (p.Arg253His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189564109G>ACA2024136SLC40A1c.877C>T (p.Arg293Cys)
c.757C>T (p.Arg253Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564109G>CCA62902907SLC40A1c.877C>G (p.Arg293Gly)
c.757C>G (p.Arg253Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.189564109G=CA1315654394SLC40A1c.877C= (p.Arg293=)
c.757C= (p.Arg253=)
2g.189564109G>TCA349988216SLC40A1c.877C>A (p.Arg293Ser)
c.757C>A (p.Arg253Ser)
2g.189564110delCA2662328752SLC40A1c.877del (p.Arg293ValfsTer27)
c.757del (p.Arg253ValfsTer27)
 gnomAD v4
2g.189564110G>ACA430502607SLC40A1c.876C>T (p.Phe292=)
c.756C>T (p.Phe252=)
2g.189564110G>CCA349988217SLC40A1c.876C>G (p.Phe292Leu)
c.756C>G (p.Phe252Leu)
2g.189564110G>TCA349988218SLC40A1c.876C>A (p.Phe292Leu)
c.756C>A (p.Phe252Leu)
2g.189564111A>CCA349988219SLC40A1c.875T>G (p.Phe292Cys)
c.755T>G (p.Phe252Cys)
2g.189564111A>GCA349988221SLC40A1c.875T>C (p.Phe292Ser)
c.755T>C (p.Phe252Ser)
2g.189564111A>TCA349988220SLC40A1c.875T>A (p.Phe292Tyr)
c.755T>A (p.Phe252Tyr)
2g.189564112A>CCA349988222SLC40A1c.874T>G (p.Phe292Val)
c.754T>G (p.Phe252Val)
2g.189564112A>GCA349988224SLC40A1c.874T>C (p.Phe292Leu)
c.754T>C (p.Phe252Leu)
2g.189564112A>TCA349988223SLC40A1c.874T>A (p.Phe292Ile)
c.754T>A (p.Phe252Ile)
2g.189564113G>ACA430502614SLC40A1c.873C>T (p.Pro291=)
c.753C>T (p.Pro251=)
 gnomAD v4
2g.189564113G>CCA430502616SLC40A1c.873C>G (p.Pro291=)
c.753C>G (p.Pro251=)
2g.189564113G>TCA430502618SLC40A1c.873C>A (p.Pro291=)
c.753C>A (p.Pro251=)
2g.189564114G>ACA349988225SLC40A1c.872C>T (p.Pro291Leu)
c.752C>T (p.Pro251Leu)
 dbSNP
2g.189564114G>CCA349988226SLC40A1c.872C>G (p.Pro291Arg)
c.752C>G (p.Pro251Arg)
2g.189564114G=CA1315654396SLC40A1c.872C= (p.Pro291=)
c.752C= (p.Pro251=)
2g.189564114G>TCA2024137SLC40A1c.872C>A (p.Pro291His)
c.752C>A (p.Pro251His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564115G>ACA349988227SLC40A1c.871C>T (p.Pro291Ser)
c.751C>T (p.Pro251Ser)
 gnomAD v4
2g.189564115G>CCA349988229SLC40A1c.871C>G (p.Pro291Ala)
c.751C>G (p.Pro251Ala)
2g.189564115G>TCA349988228SLC40A1c.871C>A (p.Pro291Thr)
c.751C>A (p.Pro251Thr)
2g.189564116C>ACA349988230SLC40A1c.870G>T (p.Glu290Asp)
c.750G>T (p.Glu250Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189564116C=CA1315654399SLC40A1c.870G= (p.Glu290=)
c.750G= (p.Glu250=)
2g.189564116C>GCA349988231SLC40A1c.870G>C (p.Glu290Asp)
c.750G>C (p.Glu250Asp)
2g.189564116C>TCA430502621SLC40A1c.870G>A (p.Glu290=)
c.750G>A (p.Glu250=)
2g.189564117T>ACA349988232SLC40A1c.869A>T (p.Glu290Val)
c.749A>T (p.Glu250Val)
2g.189564117T>CCA349988233SLC40A1c.869A>G (p.Glu290Gly)
c.749A>G (p.Glu250Gly)
2g.189564117T>GCA349988234SLC40A1c.869A>C (p.Glu290Ala)
c.749A>C (p.Glu250Ala)
2g.189564118C>ACA349988237SLC40A1c.868G>T (p.Glu290Ter)
c.748G>T (p.Glu250Ter)
2g.189564118C>GCA349988236SLC40A1c.868G>C (p.Glu290Gln)
c.748G>C (p.Glu250Gln)
2g.189564118C>TCA349988235SLC40A1c.868G>A (p.Glu290Lys)
c.748G>A (p.Glu250Lys)
2g.189564119A=CA1315654401SLC40A1c.867T= (p.Ala289=)
c.747T= (p.Ala249=)
2g.189564119A>CCA430502625SLC40A1c.867T>G (p.Ala289=)
c.747T>G (p.Ala249=)
2g.189564119A>GCA430502626SLC40A1c.867T>C (p.Ala289=)
c.747T>C (p.Ala249=)
 dbSNP gnomAD v3 gnomAD v4
2g.189564119A>TCA430502624SLC40A1c.867T>A (p.Ala289=)
c.747T>A (p.Ala249=)
2g.189564120G>ACA349988238SLC40A1c.866C>T (p.Ala289Val)
c.746C>T (p.Ala249Val)
2g.189564120G>CCA349988239SLC40A1c.866C>G (p.Ala289Gly)
c.746C>G (p.Ala249Gly)
2g.189564120G=CA1315654403SLC40A1c.866C= (p.Ala289=)
c.746C= (p.Ala249=)
2g.189564120G>TCA349988240SLC40A1c.866C>A (p.Ala289Asp)
c.746C>A (p.Ala249Asp)
 dbSNP
2g.189564121C>ACA349988241SLC40A1c.865G>T (p.Ala289Ser)
c.745G>T (p.Ala249Ser)
2g.189564121C=CA1315654404SLC40A1c.865G= (p.Ala289=)
c.745G= (p.Ala249=)
2g.189564121C>GCA2024138SLC40A1c.865G>C (p.Ala289Pro)
c.745G>C (p.Ala249Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564121C>TCA349988242SLC40A1c.865G>A (p.Ala289Thr)
c.745G>A (p.Ala249Thr)
2g.189564122C>ACA349988243SLC40A1c.864G>T (p.Met288Ile)
c.744G>T (p.Met248Ile)
2g.189564122C>GCA349988245SLC40A1c.864G>C (p.Met288Ile)
c.744G>C (p.Met248Ile)
2g.189564122C>TCA349988244SLC40A1c.864G>A (p.Met288Ile)
c.744G>A (p.Met248Ile)
 gnomAD v4
2g.189564123A>CCA349988246SLC40A1c.863T>G (p.Met288Arg)
c.743T>G (p.Met248Arg)
2g.189564123A>GCA349988247SLC40A1c.863T>C (p.Met288Thr)
c.743T>C (p.Met248Thr)
2g.189564123A>TCA349988248SLC40A1c.863T>A (p.Met288Lys)
c.743T>A (p.Met248Lys)

Number of alleles fetched