Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.189564123_189564124insACCA2753593832SLC40A1c.862_863insGT (p.Met288SerfsTer?)
c.742_743insGT (p.Met248SerfsTer?)
2g.189564124T>ACA349988249SLC40A1c.862A>T (p.Met288Leu)
c.742A>T (p.Met248Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.189564124T>CCA349988250SLC40A1c.862A>G (p.Met288Val)
c.742A>G (p.Met248Val)
2g.189564124T>GCA349988251SLC40A1c.862A>C (p.Met288Leu)
c.742A>C (p.Met248Leu)
 gnomAD v4
2g.189564124T=CA1315654407SLC40A1c.862A= (p.Met288=)
c.742A= (p.Met248=)
2g.189564124_189564125insTCCTTCTCCA2753593833SLC40A1c.861_862insGAGAAGGA (p.Met288GlufsTer?)
c.741_742insGAGAAGGA (p.Met248GlufsTer?)
2g.189564125C>ACA349988252SLC40A1c.861G>T (p.Gln287His)
c.741G>T (p.Gln247His)
 dbSNP
2g.189564125C=CA1315654411SLC40A1c.861G= (p.Gln287=)
c.741G= (p.Gln247=)
2g.189564125C>GCA349988253SLC40A1c.861G>C (p.Gln287His)
c.741G>C (p.Gln247His)
2g.189564125C>TCA430502634SLC40A1c.861G>A (p.Gln287=)
c.741G>A (p.Gln247=)
 gnomAD v4
2g.189564126T>ACA349988254SLC40A1c.860A>T (p.Gln287Leu)
c.740A>T (p.Gln247Leu)
2g.189564126T>CCA349988255SLC40A1c.860A>G (p.Gln287Arg)
c.740A>G (p.Gln247Arg)
2g.189564126T>GCA349988256SLC40A1c.860A>C (p.Gln287Pro)
c.740A>C (p.Gln247Pro)
2g.189564127G>ACA349988257SLC40A1c.859C>T (p.Gln287Ter)
c.739C>T (p.Gln247Ter)
2g.189564127G>CCA349988259SLC40A1c.859C>G (p.Gln287Glu)
c.739C>G (p.Gln247Glu)
2g.189564127G>TCA349988258SLC40A1c.859C>A (p.Gln287Lys)
c.739C>A (p.Gln247Lys)
2g.189564128G>ACA430502638SLC40A1c.858C>T (p.Ser286=)
c.738C>T (p.Ser246=)
 dbSNP gnomAD v2 gnomAD v4
2g.189564128G>CCA430502639SLC40A1c.858C>G (p.Ser286=)
c.738C>G (p.Ser246=)
2g.189564128G=CA1315654414SLC40A1c.858C= (p.Ser286=)
c.738C= (p.Ser246=)
2g.189564128G>TCA430502640SLC40A1c.858C>A (p.Ser286=)
c.738C>A (p.Ser246=)
2g.189564129G>ACA349988260SLC40A1c.857C>T (p.Ser286Phe)
c.737C>T (p.Ser246Phe)
 gnomAD v4
2g.189564129G>CCA349988261SLC40A1c.857C>G (p.Ser286Cys)
c.737C>G (p.Ser246Cys)
2g.189564129G>TCA349988262SLC40A1c.857C>A (p.Ser286Tyr)
c.737C>A (p.Ser246Tyr)
2g.189564130A>CCA349988263SLC40A1c.856T>G (p.Ser286Ala)
c.736T>G (p.Ser246Ala)
2g.189564130A>GCA349988264SLC40A1c.856T>C (p.Ser286Pro)
c.736T>C (p.Ser246Pro)
2g.189564130A>TCA349988265SLC40A1c.856T>A (p.Ser286Thr)
c.736T>A (p.Ser246Thr)
2g.189564130_189564131delinsAGCA1315654416SLC40A1c.855_856delinsCT (p.Ala285=)
c.735_736delinsCT (p.Ala245=)
2g.189564131G>ACA430502645SLC40A1c.855C>T (p.Ala285=)
c.735C>T (p.Ala245=)
2g.189564131G>CCA430502646SLC40A1c.855C>G (p.Ala285=)
c.735C>G (p.Ala245=)
2g.189564131G>TCA430502647SLC40A1c.855C>A (p.Ala285=)
c.735C>A (p.Ala245=)
2g.189564132delCA538917986SLC40A1c.855del (p.Ser286ProfsTer?)
c.735del (p.Ser246ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.189564132G>ACA349988266SLC40A1c.854C>T (p.Ala285Val)
c.734C>T (p.Ala245Val)
 gnomAD v4
2g.189564132G>CCA349988267SLC40A1c.854C>G (p.Ala285Gly)
c.734C>G (p.Ala245Gly)
2g.189564132G>TCA349988268SLC40A1c.854C>A (p.Ala285Asp)
c.734C>A (p.Ala245Asp)
2g.189564133C>ACA349988269SLC40A1c.853G>T (p.Ala285Ser)
c.733G>T (p.Ala245Ser)
2g.189564133C>GCA349988270SLC40A1c.853G>C (p.Ala285Pro)
c.733G>C (p.Ala245Pro)
2g.189564133C>TCA349988271SLC40A1c.853G>A (p.Ala285Thr)
c.733G>A (p.Ala245Thr)
2g.189564134A>CCA349988273SLC40A1c.852T>G (p.Cys284Trp)
c.732T>G (p.Cys244Trp)
2g.189564134A>GCA430502651SLC40A1c.852T>C (p.Cys284=)
c.732T>C (p.Cys244=)
2g.189564134A>TCA349988272SLC40A1c.852T>A (p.Cys284Ter)
c.732T>A (p.Cys244Ter)
2g.189564135C>ACA349988274SLC40A1c.851G>T (p.Cys284Phe)
c.731G>T (p.Cys244Phe)
2g.189564135C=CA1315654418SLC40A1c.851G= (p.Cys284=)
c.731G= (p.Cys244=)
2g.189564135C>GCA349988275SLC40A1c.851G>C (p.Cys284Ser)
c.731G>C (p.Cys244Ser)
2g.189564135C>TCA349988276SLC40A1c.851G>A (p.Cys284Tyr)
c.731G>A (p.Cys244Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.189564136A>CCA349988277SLC40A1c.850T>G (p.Cys284Gly)
c.730T>G (p.Cys244Gly)
2g.189564136A>GCA349988278SLC40A1c.850T>C (p.Cys284Arg)
c.730T>C (p.Cys244Arg)
2g.189564136A>TCA349988279SLC40A1c.850T>A (p.Cys284Ser)
c.730T>A (p.Cys244Ser)
2g.189564137A>CCA430502658SLC40A1c.849T>G (p.Thr283=)
c.729T>G (p.Thr243=)
2g.189564137A>GCA430502659SLC40A1c.849T>C (p.Thr283=)
c.729T>C (p.Thr243=)
 gnomAD v4
2g.189564137A>TCA430502660SLC40A1c.849T>A (p.Thr283=)
c.729T>A (p.Thr243=)
 gnomAD v4
2g.189564138G>ACA349988280SLC40A1c.848C>T (p.Thr283Ile)
c.728C>T (p.Thr243Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.189564138G>CCA349988281SLC40A1c.848C>G (p.Thr283Ser)
c.728C>G (p.Thr243Ser)
2g.189564138G=CA1315654420SLC40A1c.848C= (p.Thr283=)
c.728C= (p.Thr243=)
2g.189564138G>TCA349988282SLC40A1c.848C>A (p.Thr283Asn)
c.728C>A (p.Thr243Asn)
2g.189564139T>ACA349988283SLC40A1c.847A>T (p.Thr283Ser)
c.727A>T (p.Thr243Ser)
2g.189564139T>CCA349988284SLC40A1c.847A>G (p.Thr283Ala)
c.727A>G (p.Thr243Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.189564139T>GCA349988285SLC40A1c.847A>C (p.Thr283Pro)
c.727A>C (p.Thr243Pro)
2g.189564139T=CA1315654423SLC40A1c.847A= (p.Thr283=)
c.727A= (p.Thr243=)
2g.189564140A=CA1315654425SLC40A1c.846T= (p.Pro282=)
c.726T= (p.Pro242=)
2g.189564140A>CCA430502666SLC40A1c.846T>G (p.Pro282=)
c.726T>G (p.Pro242=)
2g.189564140A>GCA2024139SLC40A1c.846T>C (p.Pro282=)
c.726T>C (p.Pro242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564140A>TCA430502664SLC40A1c.846T>A (p.Pro282=)
c.726T>A (p.Pro242=)
2g.189564141G>ACA349988287SLC40A1c.845C>T (p.Pro282Leu)
c.725C>T (p.Pro242Leu)
 gnomAD v4
2g.189564141G>CCA349988286SLC40A1c.845C>G (p.Pro282Arg)
c.725C>G (p.Pro242Arg)
2g.189564141G>TCA349988288SLC40A1c.845C>A (p.Pro282His)
c.725C>A (p.Pro242His)
2g.189564142G>ACA349988289SLC40A1c.844C>T (p.Pro282Ser)
c.724C>T (p.Pro242Ser)
2g.189564142G>CCA349988290SLC40A1c.844C>G (p.Pro282Ala)
c.724C>G (p.Pro242Ala)
2g.189564142G>TCA349988291SLC40A1c.844C>A (p.Pro282Thr)
c.724C>A (p.Pro242Thr)
2g.189564143C>ACA349988292SLC40A1c.843G>T (p.Glu281Asp)
c.723G>T (p.Glu241Asp)
2g.189564143C>GCA349988293SLC40A1c.843G>C (p.Glu281Asp)
c.723G>C (p.Glu241Asp)
2g.189564143C>TCA430502669SLC40A1c.843G>A (p.Glu281=)
c.723G>A (p.Glu241=)
 gnomAD v4
2g.189564144T>ACA349988294SLC40A1c.842A>T (p.Glu281Val)
c.722A>T (p.Glu241Val)
2g.189564144T>CCA349988295SLC40A1c.842A>G (p.Glu281Gly)
c.722A>G (p.Glu241Gly)
2g.189564144T>GCA349988296SLC40A1c.842A>C (p.Glu281Ala)
c.722A>C (p.Glu241Ala)
2g.189564145C>ACA349988297SLC40A1c.841G>T (p.Glu281Ter)
c.721G>T (p.Glu241Ter)
2g.189564145C>GCA349988298SLC40A1c.841G>C (p.Glu281Gln)
c.721G>C (p.Glu241Gln)
 COSMIC
2g.189564145C>TCA349988299SLC40A1c.841G>A (p.Glu281Lys)
c.721G>A (p.Glu241Lys)
2g.189564146T>ACA349988300SLC40A1c.840A>T (p.Gln280His)
c.720A>T (p.Gln240His)
2g.189564146T>CCA430502675SLC40A1c.840A>G (p.Gln280=)
c.720A>G (p.Gln240=)
 gnomAD v4
2g.189564146T>GCA349988301SLC40A1c.840A>C (p.Gln280His)
c.720A>C (p.Gln240His)
2g.189564147T>ACA349988302SLC40A1c.839A>T (p.Gln280Leu)
c.719A>T (p.Gln240Leu)
2g.189564147T>CCA349988304SLC40A1c.839A>G (p.Gln280Arg)
c.719A>G (p.Gln240Arg)
2g.189564147T>GCA349988303SLC40A1c.839A>C (p.Gln280Pro)
c.719A>C (p.Gln240Pro)
2g.189564148G>ACA349988305SLC40A1c.838C>T (p.Gln280Ter)
c.718C>T (p.Gln240Ter)
2g.189564148G>CCA349988306SLC40A1c.838C>G (p.Gln280Glu)
c.718C>G (p.Gln240Glu)
 gnomAD v4
2g.189564148G>TCA349988307SLC40A1c.838C>A (p.Gln280Lys)
c.718C>A (p.Gln240Lys)
2g.189564149C>ACA349988308SLC40A1c.837G>T (p.Glu279Asp)
c.717G>T (p.Glu239Asp)
 gnomAD v4
2g.189564149C=CA1315654429SLC40A1c.837G= (p.Glu279=)
c.717G= (p.Glu239=)
2g.189564149C>GCA349988309SLC40A1c.837G>C (p.Glu279Asp)
c.717G>C (p.Glu239Asp)
 dbSNP gnomAD v4
2g.189564149C>TCA430502679SLC40A1c.837G>A (p.Glu279=)
c.717G>A (p.Glu239=)
 dbSNP gnomAD v4
2g.189564150T>ACA349988310SLC40A1c.836A>T (p.Glu279Val)
c.716A>T (p.Glu239Val)
2g.189564150T>CCA349988311SLC40A1c.836A>G (p.Glu279Gly)
c.716A>G (p.Glu239Gly)
2g.189564150T>GCA349988312SLC40A1c.836A>C (p.Glu279Ala)
c.716A>C (p.Glu239Ala)
2g.189564151_189564153dupCA2662328778SLC40A1c.834_836dup (p.His278_Glu279insAsp)
c.714_716dup (p.His238_Glu239insAsp)
 gnomAD v4
2g.189564151C>ACA349988313SLC40A1c.835G>T (p.Glu279Ter)
c.715G>T (p.Glu239Ter)
2g.189564151C=CA1315654433SLC40A1c.835G= (p.Glu279=)
c.715G= (p.Glu239=)
2g.189564151C>GCA349988314SLC40A1c.835G>C (p.Glu279Gln)
c.715G>C (p.Glu239Gln)
2g.189564151C>TCA2024140SLC40A1c.835G>A (p.Glu279Lys)
c.715G>A (p.Glu239Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564152A=CA1315654436SLC40A1c.834T= (p.His278=)
c.714T= (p.His238=)
2g.189564152A>CCA349988315SLC40A1c.834T>G (p.His278Gln)
c.714T>G (p.His238Gln)
2g.189564152A>GCA62902908SLC40A1c.834T>C (p.His278=)
c.714T>C (p.His238=)
 dbSNP
2g.189564152A>TCA349988316SLC40A1c.834T>A (p.His278Gln)
c.714T>A (p.His238Gln)
2g.189564153T>ACA349988317SLC40A1c.833A>T (p.His278Leu)
c.713A>T (p.His238Leu)
2g.189564153T>CCA349988318SLC40A1c.833A>G (p.His278Arg)
c.713A>G (p.His238Arg)
 gnomAD v4
2g.189564153T>GCA349988319SLC40A1c.833A>C (p.His278Pro)
c.713A>C (p.His238Pro)
2g.189564154G>ACA349988320SLC40A1c.832C>T (p.His278Tyr)
c.712C>T (p.His238Tyr)
 gnomAD v4
2g.189564154G>CCA349988321SLC40A1c.832C>G (p.His278Asp)
c.712C>G (p.His238Asp)
 gnomAD v4
2g.189564154G=CA1315654438SLC40A1c.832C= (p.His278=)
c.712C= (p.His238=)
2g.189564154G>TCA349988322SLC40A1c.832C>A (p.His278Asn)
c.712C>A (p.His238Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564155T>ACA349988323SLC40A1c.831A>T (p.Glu277Asp)
c.711A>T (p.Glu237Asp)
2g.189564155T>CCA430502689SLC40A1c.831A>G (p.Glu277=)
c.711A>G (p.Glu237=)
 ClinVar
2g.189564155T>GCA349988324SLC40A1c.831A>C (p.Glu277Asp)
c.711A>C (p.Glu237Asp)
2g.189564156T>ACA349988325SLC40A1c.830A>T (p.Glu277Val)
c.710A>T (p.Glu237Val)
2g.189564156T>CCA349988326SLC40A1c.830A>G (p.Glu277Gly)
c.710A>G (p.Glu237Gly)
2g.189564156T>GCA349988327SLC40A1c.830A>C (p.Glu277Ala)
c.710A>C (p.Glu237Ala)
2g.189564157C>ACA349988329SLC40A1c.829G>T (p.Glu277Ter)
c.709G>T (p.Glu237Ter)
2g.189564157C=CA1315654444SLC40A1c.829G= (p.Glu277=)
c.709G= (p.Glu237=)
2g.189564157C>GCA2024141SLC40A1c.829G>C (p.Glu277Gln)
c.709G>C (p.Glu237Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564157C>TCA349988328SLC40A1c.829G>A (p.Glu277Lys)
c.709G>A (p.Glu237Lys)
2g.189564158A>CCA430502694SLC40A1c.828T>G (p.Leu276=)
c.708T>G (p.Leu236=)
2g.189564158A>GCA430502695SLC40A1c.828T>C (p.Leu276=)
c.708T>C (p.Leu236=)
2g.189564158A>TCA430502696SLC40A1c.828T>A (p.Leu276=)
c.708T>A (p.Leu236=)
 gnomAD v4

Number of alleles fetched