Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.189564159A>CCA349988330SLC40A1c.827T>G (p.Leu276Arg)
c.707T>G (p.Leu236Arg)
2g.189564159A>GCA349988331SLC40A1c.827T>C (p.Leu276Pro)
c.707T>C (p.Leu236Pro)
2g.189564159A>TCA349988332SLC40A1c.827T>A (p.Leu276His)
c.707T>A (p.Leu236His)
2g.189564160G>ACA349988333SLC40A1c.826C>T (p.Leu276Phe)
c.706C>T (p.Leu236Phe)
2g.189564160G>CCA349988334SLC40A1c.826C>G (p.Leu276Val)
c.706C>G (p.Leu236Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189564160G=CA1315654445SLC40A1c.826C= (p.Leu276=)
c.706C= (p.Leu236=)
2g.189564160G>TCA349988335SLC40A1c.826C>A (p.Leu276Ile)
c.706C>A (p.Leu236Ile)
2g.189564161C>ACA349988336SLC40A1c.825G>T (p.Glu275Asp)
c.705G>T (p.Glu235Asp)
2g.189564161C=CA1315654448SLC40A1c.825G= (p.Glu275=)
c.705G= (p.Glu235=)
2g.189564161C>GCA62902909SLC40A1c.825G>C (p.Glu275Asp)
c.705G>C (p.Glu235Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.189564161C>TCA2024142SLC40A1c.825G>A (p.Glu275=)
c.705G>A (p.Glu235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564162T>ACA349988337SLC40A1c.824A>T (p.Glu275Val)
c.704A>T (p.Glu235Val)
 gnomAD v4
2g.189564162T>CCA349988338SLC40A1c.824A>G (p.Glu275Gly)
c.704A>G (p.Glu235Gly)
 gnomAD v4
2g.189564162T>GCA349988339SLC40A1c.824A>C (p.Glu275Ala)
c.704A>C (p.Glu235Ala)
2g.189564163C>ACA349988342SLC40A1c.823G>T (p.Glu275Ter)
c.703G>T (p.Glu235Ter)
2g.189564163C>GCA349988341SLC40A1c.823G>C (p.Glu275Gln)
c.703G>C (p.Glu235Gln)
2g.189564163C>TCA349988340SLC40A1c.823G>A (p.Glu275Lys)
c.703G>A (p.Glu235Lys)
2g.189564164A=CA1315654453SLC40A1c.822T= (p.His274=)
c.702T= (p.His234=)
2g.189564164A>CCA349988343SLC40A1c.822T>G (p.His274Gln)
c.702T>G (p.His234Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.189564164A>GCA430502709SLC40A1c.822T>C (p.His274=)
c.702T>C (p.His234=)
 gnomAD v4
2g.189564164A>TCA349988344SLC40A1c.822T>A (p.His274Gln)
c.702T>A (p.His234Gln)
2g.189564165T>ACA349988345SLC40A1c.821A>T (p.His274Leu)
c.701A>T (p.His234Leu)
2g.189564165T>CCA349988346SLC40A1c.821A>G (p.His274Arg)
c.701A>G (p.His234Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564165T>GCA349988347SLC40A1c.821A>C (p.His274Pro)
c.701A>C (p.His234Pro)
2g.189564165T=CA1315654458SLC40A1c.821A= (p.His274=)
c.701A= (p.His234=)
2g.189564166G>ACA349988348SLC40A1c.820C>T (p.His274Tyr)
c.700C>T (p.His234Tyr)
 COSMIC
2g.189564166G>CCA349988349SLC40A1c.820C>G (p.His274Asp)
c.700C>G (p.His234Asp)
2g.189564166G>TCA349988350SLC40A1c.820C>A (p.His274Asn)
c.700C>A (p.His234Asn)
2g.189564167G>ACA430502716SLC40A1c.819C>T (p.Ile273=)
c.699C>T (p.Ile233=)
2g.189564167G>CCA349988351SLC40A1c.819C>G (p.Ile273Met)
c.699C>G (p.Ile233Met)
2g.189564167G>TCA430502717SLC40A1c.819C>A (p.Ile273=)
c.699C>A (p.Ile233=)
2g.189564168A>CCA349988354SLC40A1c.818T>G (p.Ile273Ser)
c.698T>G (p.Ile233Ser)
2g.189564168A>GCA349988352SLC40A1c.818T>C (p.Ile273Thr)
c.698T>C (p.Ile233Thr)
2g.189564168A>TCA349988353SLC40A1c.818T>A (p.Ile273Asn)
c.698T>A (p.Ile233Asn)
2g.189564169T>ACA349988355SLC40A1c.817A>T (p.Ile273Phe)
c.697A>T (p.Ile233Phe)
2g.189564169T>CCA349988356SLC40A1c.817A>G (p.Ile273Val)
c.697A>G (p.Ile233Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189564169T>GCA349988357SLC40A1c.817A>C (p.Ile273Leu)
c.697A>C (p.Ile233Leu)
2g.189564169T=CA1315654460SLC40A1c.817A= (p.Ile273=)
c.697A= (p.Ile233=)
2g.189564170G>ACA430502718SLC40A1c.816C>T (p.Asn272=)
c.696C>T (p.Asn232=)
 dbSNP
2g.189564170G>CCA349988358SLC40A1c.816C>G (p.Asn272Lys)
c.696C>G (p.Asn232Lys)
2g.189564170G=CA1315654462SLC40A1c.816C= (p.Asn272=)
c.696C= (p.Asn232=)
2g.189564170G>TCA349988359SLC40A1c.816C>A (p.Asn272Lys)
c.696C>A (p.Asn232Lys)
 gnomAD v4
2g.189564171T>ACA349988360SLC40A1c.815A>T (p.Asn272Ile)
c.695A>T (p.Asn232Ile)
2g.189564171T>CCA349988362SLC40A1c.815A>G (p.Asn272Ser)
c.695A>G (p.Asn232Ser)
2g.189564171T>GCA349988361SLC40A1c.815A>C (p.Asn272Thr)
c.695A>C (p.Asn232Thr)
2g.189564172T>ACA349988363SLC40A1c.814A>T (p.Asn272Tyr)
c.694A>T (p.Asn232Tyr)
 COSMIC
2g.189564172T>CCA349988364SLC40A1c.814A>G (p.Asn272Asp)
c.694A>G (p.Asn232Asp)
 gnomAD v4
2g.189564172T>GCA349988365SLC40A1c.814A>C (p.Asn272His)
c.694A>C (p.Asn232His)
2g.189564173A>CCA430502720SLC40A1c.813T>G (p.Ser271=)
c.693T>G (p.Ser231=)
2g.189564173A>GCA430502723SLC40A1c.813T>C (p.Ser271=)
c.693T>C (p.Ser231=)
2g.189564173A>TCA430502722SLC40A1c.813T>A (p.Ser271=)
c.693T>A (p.Ser231=)
2g.189564173dupCA2662328788SLC40A1c.813dup (p.Asn272Ter)
c.693dup (p.Asn232Ter)
 gnomAD v4
2g.189564174G>ACA349988366SLC40A1c.812C>T (p.Ser271Phe)
c.692C>T (p.Ser231Phe)
 gnomAD v4
2g.189564174G>CCA349988367SLC40A1c.812C>G (p.Ser271Cys)
c.692C>G (p.Ser231Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.189564174G=CA1315654465SLC40A1c.812C= (p.Ser271=)
c.692C= (p.Ser231=)
2g.189564174G>TCA349988368SLC40A1c.812C>A (p.Ser271Tyr)
c.692C>A (p.Ser231Tyr)
2g.189564175A>CCA349988369SLC40A1c.811T>G (p.Ser271Ala)
c.691T>G (p.Ser231Ala)
2g.189564175A>GCA349988370SLC40A1c.811T>C (p.Ser271Pro)
c.691T>C (p.Ser231Pro)
2g.189564175A>TCA349988371SLC40A1c.811T>A (p.Ser271Thr)
c.691T>A (p.Ser231Thr)
2g.189564176G>ACA430502728SLC40A1c.810C>T (p.Asp270=)
c.690C>T (p.Asp230=)
2g.189564176G>CCA349988372SLC40A1c.810C>G (p.Asp270Glu)
c.690C>G (p.Asp230Glu)
2g.189564176G>TCA349988373SLC40A1c.810C>A (p.Asp270Glu)
c.690C>A (p.Asp230Glu)
2g.189564177T>ACA346931SLC40A1c.809A>T (p.Asp270Val)
c.689A>T (p.Asp230Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564177T>CCA349988374SLC40A1c.809A>G (p.Asp270Gly)
c.689A>G (p.Asp230Gly)
 dbSNP
2g.189564177T>GCA2024143SLC40A1c.809A>C (p.Asp270Ala)
c.689A>C (p.Asp230Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564177T=CA1315654469SLC40A1c.809A= (p.Asp270=)
c.689A= (p.Asp230=)
2g.189564178C>ACA349988375SLC40A1c.808G>T (p.Asp270Tyr)
c.688G>T (p.Asp230Tyr)
2g.189564178C=CA1315654476SLC40A1c.808G= (p.Asp270=)
c.688G= (p.Asp230=)
2g.189564178C>GCA349988376SLC40A1c.808G>C (p.Asp270His)
c.688G>C (p.Asp230His)
2g.189564178C>TCA349988377SLC40A1c.808G>A (p.Asp270Asn)
c.688G>A (p.Asp230Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.189564179T>ACA349988378SLC40A1c.807A>T (p.Lys269Asn)
c.687A>T (p.Lys229Asn)
2g.189564179T>CCA430502739SLC40A1c.807A>G (p.Lys269=)
c.687A>G (p.Lys229=)
2g.189564179T>GCA349988379SLC40A1c.807A>C (p.Lys269Asn)
c.687A>C (p.Lys229Asn)
2g.189564180T>ACA349988380SLC40A1c.806A>T (p.Lys269Ile)
c.686A>T (p.Lys229Ile)
2g.189564180T>CCA349988381SLC40A1c.806A>G (p.Lys269Arg)
c.686A>G (p.Lys229Arg)
2g.189564180T>GCA349988382SLC40A1c.806A>C (p.Lys269Thr)
c.686A>C (p.Lys229Thr)
2g.189564181T>ACA349988383SLC40A1c.805A>T (p.Lys269Ter)
c.685A>T (p.Lys229Ter)
2g.189564181T>CCA349988384SLC40A1c.805A>G (p.Lys269Glu)
c.685A>G (p.Lys229Glu)
2g.189564181T>GCA349988385SLC40A1c.805A>C (p.Lys269Gln)
c.685A>C (p.Lys229Gln)
2g.189564182C>ACA430502746SLC40A1c.804G>T (p.Val268=)
c.684G>T (p.Val228=)
 gnomAD v4
2g.189564182C>GCA430502748SLC40A1c.804G>C (p.Val268=)
c.684G>C (p.Val228=)
2g.189564182C>TCA430502751SLC40A1c.804G>A (p.Val268=)
c.684G>A (p.Val228=)
 gnomAD v4
2g.189564183A>CCA349988388SLC40A1c.803T>G (p.Val268Gly)
c.683T>G (p.Val228Gly)
2g.189564183A>GCA349988387SLC40A1c.803T>C (p.Val268Ala)
c.683T>C (p.Val228Ala)
2g.189564183A>TCA349988386SLC40A1c.803T>A (p.Val268Glu)
c.683T>A (p.Val228Glu)
2g.189564184C>ACA349988389SLC40A1c.802G>T (p.Val268Leu)
c.682G>T (p.Val228Leu)
2g.189564184C=CA1315654480SLC40A1c.802G= (p.Val268=)
c.682G= (p.Val228=)
2g.189564184C>GCA349988390SLC40A1c.802G>C (p.Val268Leu)
c.682G>C (p.Val228Leu)
2g.189564184C>TCA349988391SLC40A1c.802G>A (p.Val268Met)
c.682G>A (p.Val228Met)
 dbSNP gnomAD v3 gnomAD v4
2g.189564185A=CA1315654483SLC40A1c.801T= (p.Gly267=)
c.681T= (p.Gly227=)
2g.189564185A>CCA430502757SLC40A1c.801T>G (p.Gly267=)
c.681T>G (p.Gly227=)
2g.189564185A>GCA430502758SLC40A1c.801T>C (p.Gly267=)
c.681T>C (p.Gly227=)
 dbSNP gnomAD v4
2g.189564185A>TCA430502761SLC40A1c.801T>A (p.Gly267=)
c.681T>A (p.Gly227=)
2g.189564186C>ACA349988392SLC40A1c.800G>T (p.Gly267Val)
c.680G>T (p.Gly227Val)
 dbSNP
2g.189564186C=CA1315654488SLC40A1c.800G= (p.Gly267=)
c.680G= (p.Gly227=)
2g.189564186C>GCA349988393SLC40A1c.800G>C (p.Gly267Ala)
c.680G>C (p.Gly227Ala)
2g.189564186C>TCA117529SLC40A1c.800G>A (p.Gly267Asp)
c.680G>A (p.Gly227Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564187C>ACA349988394SLC40A1c.799G>T (p.Gly267Cys)
c.679G>T (p.Gly227Cys)
 gnomAD v4
2g.189564187C=CA1315654490SLC40A1c.799G= (p.Gly267=)
c.679G= (p.Gly227=)
2g.189564187C>GCA349988395SLC40A1c.799G>C (p.Gly267Arg)
c.679G>C (p.Gly227Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564187C>TCA349988396SLC40A1c.799G>A (p.Gly267Ser)
c.679G>A (p.Gly227Ser)
2g.189564188C>ACA349988397SLC40A1c.798G>T (p.Met266Ile)
c.678G>T (p.Met226Ile)
2g.189564188C=CA1315654494SLC40A1c.798G= (p.Met266=)
c.678G= (p.Met226=)
2g.189564188C>GCA349988398SLC40A1c.798G>C (p.Met266Ile)
c.678G>C (p.Met226Ile)
2g.189564188C>TCA62902910SLC40A1c.798G>A (p.Met266Ile)
c.678G>A (p.Met226Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564189A>CCA349988401SLC40A1c.797T>G (p.Met266Arg)
c.677T>G (p.Met226Arg)
2g.189564189A>GCA349988400SLC40A1c.797T>C (p.Met266Thr)
c.677T>C (p.Met226Thr)
2g.189564189A>TCA349988399SLC40A1c.797T>A (p.Met266Lys)
c.677T>A (p.Met226Lys)
2g.189564190T>ACA349988402SLC40A1c.796A>T (p.Met266Leu)
c.676A>T (p.Met226Leu)
2g.189564190T>CCA349988404SLC40A1c.796A>G (p.Met266Val)
c.676A>G (p.Met226Val)
 gnomAD v4
2g.189564190T>GCA349988403SLC40A1c.796A>C (p.Met266Leu)
c.676A>C (p.Met226Leu)
2g.189564191T>ACA430502774SLC40A1c.795A>T (p.Leu265=)
c.675A>T (p.Leu225=)
2g.189564191T>CCA2024144SLC40A1c.795A>G (p.Leu265=)
c.675A>G (p.Leu225=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564191T>GCA430502776SLC40A1c.795A>C (p.Leu265=)
c.675A>C (p.Leu225=)
2g.189564191T=CA1315654500SLC40A1c.795A= (p.Leu265=)
c.675A= (p.Leu225=)
2g.189564192A>CCA349988405SLC40A1c.794T>G (p.Leu265Arg)
c.674T>G (p.Leu225Arg)
2g.189564192A>GCA349988406SLC40A1c.794T>C (p.Leu265Pro)
c.674T>C (p.Leu225Pro)
2g.189564192A>TCA349988407SLC40A1c.794T>A (p.Leu265Gln)
c.674T>A (p.Leu225Gln)
2g.189564193G>ACA430502780SLC40A1c.793C>T (p.Leu265=)
c.673C>T (p.Leu225=)
2g.189564193G>CCA349988408SLC40A1c.793C>G (p.Leu265Val)
c.673C>G (p.Leu225Val)
 gnomAD v4
2g.189564193G>TCA349988409SLC40A1c.793C>A (p.Leu265Ile)
c.673C>A (p.Leu225Ile)
2g.189564194A=CA1315654503SLC40A1c.792T= (p.His264=)
c.672T= (p.His224=)
2g.189564194A>CCA62902911SLC40A1c.792T>G (p.His264Gln)
c.672T>G (p.His224Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.189564194A>GCA430502783SLC40A1c.792T>C (p.His264=)
c.672T>C (p.His224=)
2g.189564194A>TCA349988410SLC40A1c.792T>A (p.His264Gln)
c.672T>A (p.His224Gln)
2g.189564195T>ACA349988411SLC40A1c.791A>T (p.His264Leu)
c.671A>T (p.His224Leu)
2g.189564195T>CCA349988412SLC40A1c.791A>G (p.His264Arg)
c.671A>G (p.His224Arg)
2g.189564195T>GCA349988413SLC40A1c.791A>C (p.His264Pro)
c.671A>C (p.His224Pro)
2g.189564196G>ACA349988416SLC40A1c.790C>T (p.His264Tyr)
c.670C>T (p.His224Tyr)
 dbSNP gnomAD v2
2g.189564196G>CCA349988415SLC40A1c.790C>G (p.His264Asp)
c.670C>G (p.His224Asp)
2g.189564196G=CA1315654509SLC40A1c.790C= (p.His264=)
c.670C= (p.His224=)
2g.189564196G>TCA349988414SLC40A1c.790C>A (p.His264Asn)
c.670C>A (p.His224Asn)
2g.189564197A>CCA430502788SLC40A1c.789T>G (p.Thr263=)
c.669T>G (p.Thr223=)
2g.189564197A>GCA430502790SLC40A1c.789T>C (p.Thr263=)
c.669T>C (p.Thr223=)
2g.189564197A>TCA430502792SLC40A1c.789T>A (p.Thr263=)
c.669T>A (p.Thr223=)
2g.189564198G>ACA349988417SLC40A1c.788C>T (p.Thr263Ile)
c.668C>T (p.Thr223Ile)
2g.189564198G>CCA349988418SLC40A1c.788C>G (p.Thr263Ser)
c.668C>G (p.Thr223Ser)
 COSMIC
2g.189564198G>TCA349988419SLC40A1c.788C>A (p.Thr263Asn)
c.668C>A (p.Thr223Asn)
2g.189564199T>ACA349988420SLC40A1c.787A>T (p.Thr263Ser)
c.667A>T (p.Thr223Ser)
2g.189564199T>CCA349988421SLC40A1c.787A>G (p.Thr263Ala)
c.667A>G (p.Thr223Ala)
 gnomAD v4
2g.189564199T>GCA349988422SLC40A1c.787A>C (p.Thr263Pro)
c.667A>C (p.Thr223Pro)
2g.189564200T>ACA430502794SLC40A1c.786A>T (p.Gly262=)
c.666A>T (p.Gly222=)
2g.189564200T>CCA430502795SLC40A1c.786A>G (p.Gly262=)
c.666A>G (p.Gly222=)
2g.189564200T>GCA430502796SLC40A1c.786A>C (p.Gly262=)
c.666A>C (p.Gly222=)
2g.189564201C>ACA349988423SLC40A1c.785G>T (p.Gly262Val)
c.665G>T (p.Gly222Val)
 gnomAD v4
2g.189564201C>GCA349988424SLC40A1c.785G>C (p.Gly262Ala)
c.665G>C (p.Gly222Ala)
2g.189564201C>TCA349988425SLC40A1c.785G>A (p.Gly262Glu)
c.665G>A (p.Gly222Glu)
2g.189564202C>ACA349988426SLC40A1c.784G>T (p.Gly262Ter)
c.664G>T (p.Gly222Ter)
2g.189564202C>GCA349988427SLC40A1c.784G>C (p.Gly262Arg)
c.664G>C (p.Gly222Arg)
2g.189564202C>TCA349988428SLC40A1c.784G>A (p.Gly262Arg)
c.664G>A (p.Gly222Arg)
2g.189564203C>ACA349988429SLC40A1c.783G>T (p.Glu261Asp)
c.663G>T (p.Glu221Asp)
2g.189564203C>GCA349988430SLC40A1c.783G>C (p.Glu261Asp)
c.663G>C (p.Glu221Asp)
2g.189564203C>TCA430502804SLC40A1c.783G>A (p.Glu261=)
c.663G>A (p.Glu221=)
 gnomAD v4
2g.189564204T>ACA349988431SLC40A1c.782A>T (p.Glu261Val)
c.662A>T (p.Glu221Val)
2g.189564204T>CCA349988432SLC40A1c.782A>G (p.Glu261Gly)
c.662A>G (p.Glu221Gly)
2g.189564204T>GCA349988433SLC40A1c.782A>C (p.Glu261Ala)
c.662A>C (p.Glu221Ala)
2g.189564205C>ACA349988434SLC40A1c.781G>T (p.Glu261Ter)
c.661G>T (p.Glu221Ter)
2g.189564205C>GCA349988435SLC40A1c.781G>C (p.Glu261Gln)
c.661G>C (p.Glu221Gln)
 gnomAD v4
2g.189564205C>TCA349988436SLC40A1c.781G>A (p.Glu261Lys)
c.661G>A (p.Glu221Lys)
2g.189564206C>ACA430502813SLC40A1c.780G>T (p.Leu260=)
c.660G>T (p.Leu220=)
2g.189564206C>GCA430502811SLC40A1c.780G>C (p.Leu260=)
c.660G>C (p.Leu220=)
2g.189564206C>TCA430502809SLC40A1c.780G>A (p.Leu260=)
c.660G>A (p.Leu220=)
2g.189564207A=CA1315654515SLC40A1c.779T= (p.Leu260=)
c.659T= (p.Leu220=)
2g.189564207A>CCA349988438SLC40A1c.779T>G (p.Leu260Arg)
c.659T>G (p.Leu220Arg)
2g.189564207A>GCA2024145SLC40A1c.779T>C (p.Leu260Pro)
c.659T>C (p.Leu220Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564207A>TCA349988437SLC40A1c.779T>A (p.Leu260Gln)
c.659T>A (p.Leu220Gln)
2g.189564208G>ACA430502814SLC40A1c.778C>T (p.Leu260=)
c.658C>T (p.Leu220=)
2g.189564208G>CCA349988439SLC40A1c.778C>G (p.Leu260Val)
c.658C>G (p.Leu220Val)
2g.189564208G>TCA349988440SLC40A1c.778C>A (p.Leu260Met)
c.658C>A (p.Leu220Met)
2g.189564209G>ACA430502817SLC40A1c.777C>T (p.Pro259=)
c.657C>T (p.Pro219=)
 dbSNP
2g.189564209G>CCA430502815SLC40A1c.777C>G (p.Pro259=)
c.657C>G (p.Pro219=)
2g.189564209G=CA1315654517SLC40A1c.777C= (p.Pro259=)
c.657C= (p.Pro219=)
2g.189564209G>TCA430502816SLC40A1c.777C>A (p.Pro259=)
c.657C>A (p.Pro219=)
2g.189564210G>ACA2024147SLC40A1c.776C>T (p.Pro259Leu)
c.656C>T (p.Pro219Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564210G>CCA349988441SLC40A1c.776C>G (p.Pro259Arg)
c.656C>G (p.Pro219Arg)
2g.189564210G=CA1315654520SLC40A1c.776C= (p.Pro259=)
c.656C= (p.Pro219=)
2g.189564210G>TCA2024146SLC40A1c.776C>A (p.Pro259His)
c.656C>A (p.Pro219His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564211G>ACA349988442SLC40A1c.775C>T (p.Pro259Ser)
c.655C>T (p.Pro219Ser)
 gnomAD v4 COSMIC
2g.189564211G>CCA349988444SLC40A1c.775C>G (p.Pro259Ala)
c.655C>G (p.Pro219Ala)
2g.189564211G=CA1315654522SLC40A1c.775C= (p.Pro259=)
c.655C= (p.Pro219=)
2g.189564211G>TCA349988443SLC40A1c.775C>A (p.Pro259Thr)
c.655C>A (p.Pro219Thr)
 dbSNP
2g.189564212T>ACA2024148SLC40A1c.774A>T (p.Lys258Asn)
c.654A>T (p.Lys218Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564212T>CCA430502824SLC40A1c.774A>G (p.Lys258=)
c.654A>G (p.Lys218=)
2g.189564212T>GCA349988445SLC40A1c.774A>C (p.Lys258Asn)
c.654A>C (p.Lys218Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.189564212T=CA1315654525SLC40A1c.774A= (p.Lys258=)
c.654A= (p.Lys218=)
2g.189564213T>ACA349988446SLC40A1c.773A>T (p.Lys258Ile)
c.653A>T (p.Lys218Ile)
2g.189564213T>CCA349988447SLC40A1c.773A>G (p.Lys258Arg)
c.653A>G (p.Lys218Arg)
2g.189564213T>GCA349988448SLC40A1c.773A>C (p.Lys258Thr)
c.653A>C (p.Lys218Thr)
2g.189564214T>ACA349988449SLC40A1c.772A>T (p.Lys258Ter)
c.652A>T (p.Lys218Ter)
2g.189564214T>CCA2024149SLC40A1c.772A>G (p.Lys258Glu)
c.652A>G (p.Lys218Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564214T>GCA349988450SLC40A1c.772A>C (p.Lys258Gln)
c.652A>C (p.Lys218Gln)
2g.189564214T=CA1315654527SLC40A1c.772A= (p.Lys258=)
c.652A= (p.Lys218=)
2g.189564215T>ACA430502830SLC40A1c.771A>T (p.Pro257=)
c.651A>T (p.Pro217=)
 COSMIC
2g.189564215T>CCA430502832SLC40A1c.771A>G (p.Pro257=)
c.651A>G (p.Pro217=)
2g.189564215T>GCA430502835SLC40A1c.771A>C (p.Pro257=)
c.651A>C (p.Pro217=)
2g.189564216G>ACA349988451SLC40A1c.770C>T (p.Pro257Leu)
c.650C>T (p.Pro217Leu)
 gnomAD v4
2g.189564216G>CCA349988452SLC40A1c.770C>G (p.Pro257Arg)
c.650C>G (p.Pro217Arg)
 gnomAD v4
2g.189564216G>TCA349988453SLC40A1c.770C>A (p.Pro257Gln)
c.650C>A (p.Pro217Gln)
2g.189564216_189564217insACTCA2547293378SLC40A1c.769_770insAGT (p.Pro257delinsGlnSer)
c.649_650insAGT (p.Pro217delinsGlnSer)
2g.189564217G>ACA2024150SLC40A1c.769C>T (p.Pro257Ser)
c.649C>T (p.Pro217Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564217G>CCA349988455SLC40A1c.769C>G (p.Pro257Ala)
c.649C>G (p.Pro217Ala)
2g.189564217G=CA1315654530SLC40A1c.769C= (p.Pro257=)
c.649C= (p.Pro217=)
2g.189564217G>TCA349988454SLC40A1c.769C>A (p.Pro257Thr)
c.649C>A (p.Pro217Thr)
2g.189564218C>ACA349988457SLC40A1c.768G>T (p.Glu256Asp)
c.648G>T (p.Glu216Asp)
2g.189564218C=CA1315654534SLC40A1c.768G= (p.Glu256=)
c.648G= (p.Glu216=)
2g.189564218C>GCA349988456SLC40A1c.768G>C (p.Glu256Asp)
c.648G>C (p.Glu216Asp)
2g.189564218C>TCA2024151SLC40A1c.768G>A (p.Glu256=)
c.648G>A (p.Glu216=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564219T>ACA349988458SLC40A1c.767A>T (p.Glu256Val)
c.647A>T (p.Glu216Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189564219T>CCA349988460SLC40A1c.767A>G (p.Glu256Gly)
c.647A>G (p.Glu216Gly)
2g.189564219T>GCA349988459SLC40A1c.767A>C (p.Glu256Ala)
c.647A>C (p.Glu216Ala)
2g.189564219T=CA1315654536SLC40A1c.767A= (p.Glu256=)
c.647A= (p.Glu216=)
2g.189564220C>ACA349988461SLC40A1c.766G>T (p.Glu256Ter)
c.646G>T (p.Glu216Ter)
 gnomAD v4
2g.189564220C>GCA349988462SLC40A1c.766G>C (p.Glu256Gln)
c.646G>C (p.Glu216Gln)
2g.189564220C>TCA349988463SLC40A1c.766G>A (p.Glu256Lys)
c.646G>A (p.Glu216Lys)
2g.189564221A>CCA430502849SLC40A1c.765T>G (p.Thr255=)
c.645T>G (p.Thr215=)
2g.189564221A>GCA430502850SLC40A1c.765T>C (p.Thr255=)
c.645T>C (p.Thr215=)
2g.189564221A>TCA430502852SLC40A1c.765T>A (p.Thr255=)
c.645T>A (p.Thr215=)
2g.189564222G>ACA349988464SLC40A1c.764C>T (p.Thr255Ile)
c.644C>T (p.Thr215Ile)
2g.189564222G>CCA349988465SLC40A1c.764C>G (p.Thr255Ser)
c.644C>G (p.Thr215Ser)
 gnomAD v4
2g.189564222G>TCA349988466SLC40A1c.764C>A (p.Thr255Asn)
c.644C>A (p.Thr215Asn)
2g.189564223T>ACA349988467SLC40A1c.763A>T (p.Thr255Ser)
c.643A>T (p.Thr215Ser)
2g.189564223T>CCA349988468SLC40A1c.763A>G (p.Thr255Ala)
c.643A>G (p.Thr215Ala)
 dbSNP
2g.189564223T>GCA349988469SLC40A1c.763A>C (p.Thr255Pro)
c.643A>C (p.Thr215Pro)
2g.189564223T=CA1315654539SLC40A1c.763A= (p.Thr255=)
c.643A= (p.Thr215=)
2g.189564224A>CCA349988470SLC40A1c.762T>G (p.Asp254Glu)
c.642T>G (p.Asp214Glu)
2g.189564224A>GCA430502854SLC40A1c.762T>C (p.Asp254=)
c.642T>C (p.Asp214=)
2g.189564224A>TCA349988471SLC40A1c.762T>A (p.Asp254Glu)
c.642T>A (p.Asp214Glu)
2g.189564225T>ACA349988474SLC40A1c.761A>T (p.Asp254Val)
c.641A>T (p.Asp214Val)
2g.189564225T>CCA349988473SLC40A1c.761A>G (p.Asp254Gly)
c.641A>G (p.Asp214Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.189564225T>GCA349988472SLC40A1c.761A>C (p.Asp254Ala)
c.641A>C (p.Asp214Ala)
2g.189564225T=CA1315654541SLC40A1c.761A= (p.Asp254=)
c.641A= (p.Asp214=)
2g.189564226C>ACA349988475SLC40A1c.761-1G>T (n.761-1G>T)
c.641-1G>T (n.641-1G>T)
2g.189564226C>GCA349988476SLC40A1c.761-1G>C (n.761-1G>C)
c.641-1G>C (n.641-1G>C)
2g.189564226C>TCA349988477SLC40A1c.761-1G>A (n.761-1G>A)
c.641-1G>A (n.641-1G>A)
2g.189564227T>ACA349988478SLC40A1c.761-2A>T (n.761-2A>T)
c.641-2A>T (n.641-2A>T)
2g.189564227T>CCA349988479SLC40A1c.761-2A>G (n.761-2A>G)
c.641-2A>G (n.641-2A>G)
2g.189564227T>GCA349988480SLC40A1c.761-2A>C (n.761-2A>C)
c.641-2A>C (n.641-2A>C)
2g.189564227_189564228insTTCA2701181397SLC40A1c.761-2_761-1insAA (n.761-2_761-1insAA)
c.641-2_641-1insAA (n.641-2_641-1insAA)
 dbSNP
2g.189564228G>ACA2577188085SLC40A1c.761-3C>T (n.761-3C>T)
c.641-3C>T (n.641-3C>T)
2g.189564228G>TCA2662328792SLC40A1c.761-3C>A (n.761-3C>A)
c.641-3C>A (n.641-3C>A)
 gnomAD v4
2g.189564229T>CCA2662328793SLC40A1c.761-4A>G (n.761-4A>G)
c.641-4A>G (n.641-4A>G)
 gnomAD v4
2g.189564229_189564230insGCA2701181533SLC40A1c.761-5_761-4insC (n.761-5_761-4insC)
c.641-5_641-4insC (n.641-5_641-4insC)
 dbSNP
2g.189564229_189564230insGTAAATTCAGCTGTTTCAATTCAGTTTCCCA2701181500SLC40A1c.761-5_761-4insGGAAACTGAATTGAAACAGCTGAATTTAC (n.761-5_761-4insGGAAACTGAATTGAAACAGCTGAATTTAC)
c.641-5_641-4insGGAAACTGAATTGAAACAGCTGAATTTAC (n.641-5_641-4insGGAAACTGAATTGAAACAGCTGAATTTAC)
 dbSNP
2g.189564232A=CA1315654544SLC40A1c.761-7T= (n.761-7T=)
c.641-7T= (n.641-7T=)
2g.189564232A>TCA1315654543SLC40A1c.761-7T>A (n.761-7T>A)
c.641-7T>A (n.641-7T>A)
 dbSNP
2g.189564232_189564233insATTCAGCTGTTTCAATTCACA2701181547SLC40A1c.761-7_761-6insGAATTGAAACAGCTGAATT (n.761-7_761-6insGAATTGAAACAGCTGAATT)
c.641-7_641-6insGAATTGAAACAGCTGAATT (n.641-7_641-6insGAATTGAAACAGCTGAATT)
 dbSNP
2g.189564233G>TCA2502199837SLC40A1c.761-8C>A (n.761-8C>A)
c.641-8C>A (n.641-8C>A)
 gnomAD v4
2g.189564234A>GCA2662328794SLC40A1c.761-9T>C (n.761-9T>C)
c.641-9T>C (n.641-9T>C)
 gnomAD v4
2g.189564238G>TCA2662328795SLC40A1c.761-13C>A (n.761-13C>A)
c.641-13C>A (n.641-13C>A)
 gnomAD v4
2g.189564239A=CA1315654548SLC40A1c.761-14T= (n.761-14T=)
c.641-14T= (n.641-14T=)
2g.189564239A>CCA2662328796SLC40A1c.761-14T>G (n.761-14T>G)
c.641-14T>G (n.641-14T>G)
 gnomAD v4
2g.189564239A>GCA2024152SLC40A1c.761-14T>C (n.761-14T>C)
c.641-14T>C (n.641-14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564240T>CCA2540879748SLC40A1c.761-15A>G (n.761-15A>G)
c.641-15A>G (n.641-15A>G)
 gnomAD v4
2g.189564242C>ACA2024153SLC40A1c.761-17G>T (n.761-17G>T)
c.641-17G>T (n.641-17G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564242C=CA1315654551SLC40A1c.761-17G= (n.761-17G=)
c.641-17G= (n.641-17G=)
2g.189564242C>GCA2662328797SLC40A1c.761-17G>C (n.761-17G>C)
c.641-17G>C (n.641-17G>C)
 gnomAD v4
2g.189564242C>TCA2540795844SLC40A1c.761-17G>A (n.761-17G>A)
c.641-17G>A (n.641-17G>A)
2g.189564243C=CA1315654553SLC40A1c.761-18G= (n.761-18G=)
c.641-18G= (n.641-18G=)
2g.189564243C>GCA2024154SLC40A1c.761-18G>C (n.761-18G>C)
c.641-18G>C (n.641-18G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564244A=CA1315654555SLC40A1c.761-19T= (n.761-19T=)
c.641-19T= (n.641-19T=)
2g.189564244A>TCA2024155SLC40A1c.761-19T>A (n.761-19T>A)
c.641-19T>A (n.641-19T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564247A>GCA2577188086SLC40A1c.761-22T>C (n.761-22T>C)
c.641-22T>C (n.641-22T>C)
 gnomAD v4
2g.189564248T>CCA1315654557SLC40A1c.761-23A>G (n.761-23A>G)
c.641-23A>G (n.641-23A>G)
 dbSNP
2g.189564248T=CA1315654559SLC40A1c.761-23A= (n.761-23A=)
c.641-23A= (n.641-23A=)
2g.189564249T>CCA2662328798SLC40A1c.761-24A>G (n.761-24A>G)
c.641-24A>G (n.641-24A>G)
 gnomAD v4
2g.189564251_189564254delCA2504363776SLC40A1c.761-27_761-24del (n.761-27_761-24del)
c.641-27_641-24del (n.641-27_641-24del)

Number of alleles fetched