Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189565376C>ACA349988539SLC40A1c.738G>T (p.Leu246Phe)
c.618G>T (p.Leu206Phe)
2g.189565376C>GCA349988540SLC40A1c.738G>C (p.Leu246Phe)
c.618G>C (p.Leu206Phe)
2g.189565376C>TCA430502418SLC40A1c.738G>A (p.Leu246=)
c.618G>A (p.Leu206=)
2g.189565377A>CCA349988541SLC40A1c.737T>G (p.Leu246Trp)
c.617T>G (p.Leu206Trp)
2g.189565377A>GCA349988542SLC40A1c.737T>C (p.Leu246Ser)
c.617T>C (p.Leu206Ser)
2g.189565377A>TCA349988543SLC40A1c.737T>A (p.Leu246Ter)
c.617T>A (p.Leu206Ter)
2g.189565378A>CCA349988544SLC40A1c.736T>G (p.Leu246Val)
c.616T>G (p.Leu206Val)
2g.189565378A>GCA430502419SLC40A1c.736T>C (p.Leu246=)
c.616T>C (p.Leu206=)
 ClinVar gnomAD v4
2g.189565378A>TCA349988545SLC40A1c.736T>A (p.Leu246Met)
c.616T>A (p.Leu206Met)
2g.189565379T>ACA349988546SLC40A1c.735A>T (p.Glu245Asp)
c.615A>T (p.Glu205Asp)
2g.189565379T>CCA430502420SLC40A1c.735A>G (p.Glu245=)
c.615A>G (p.Glu205=)
2g.189565379T>GCA349988547SLC40A1c.735A>C (p.Glu245Asp)
c.615A>C (p.Glu205Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189565379T=CA1315655717SLC40A1c.735A= (p.Glu245=)
c.615A= (p.Glu205=)
2g.189565380T>ACA349988548SLC40A1c.734A>T (p.Glu245Val)
c.614A>T (p.Glu205Val)
2g.189565380T>CCA349988550SLC40A1c.734A>G (p.Glu245Gly)
c.614A>G (p.Glu205Gly)
2g.189565380T>GCA349988549SLC40A1c.734A>C (p.Glu245Ala)
c.614A>C (p.Glu205Ala)
2g.189565381C>ACA349988551SLC40A1c.733G>T (p.Glu245Ter)
c.613G>T (p.Glu205Ter)
2g.189565381C>GCA349988552SLC40A1c.733G>C (p.Glu245Gln)
c.613G>C (p.Glu205Gln)
2g.189565381C>TCA349988553SLC40A1c.733G>A (p.Glu245Lys)
c.613G>A (p.Glu205Lys)
2g.189565382A=CA1315655722SLC40A1c.732T= (p.Thr244=)
c.612T= (p.Thr204=)
2g.189565382A>CCA430502424SLC40A1c.732T>G (p.Thr244=)
c.612T>G (p.Thr204=)
 gnomAD v4
2g.189565382A>GCA430502426SLC40A1c.732T>C (p.Thr244=)
c.612T>C (p.Thr204=)
 dbSNP
2g.189565382A>TCA430502425SLC40A1c.732T>A (p.Thr244=)
c.612T>A (p.Thr204=)
2g.189565383G>ACA349988554SLC40A1c.731C>T (p.Thr244Ile)
c.611C>T (p.Thr204Ile)
2g.189565383G>CCA349988555SLC40A1c.731C>G (p.Thr244Ser)
c.611C>G (p.Thr204Ser)
2g.189565383G>TCA349988556SLC40A1c.731C>A (p.Thr244Asn)
c.611C>A (p.Thr204Asn)
2g.189565384T>ACA349988559SLC40A1c.730A>T (p.Thr244Ser)
c.610A>T (p.Thr204Ser)
2g.189565384T>CCA349988557SLC40A1c.730A>G (p.Thr244Ala)
c.610A>G (p.Thr204Ala)
2g.189565384T>GCA349988558SLC40A1c.730A>C (p.Thr244Pro)
c.610A>C (p.Thr204Pro)
2g.189565385T>ACA349988560SLC40A1c.729A>T (p.Glu243Asp)
c.609A>T (p.Glu203Asp)
2g.189565385T>CCA430502429SLC40A1c.729A>G (p.Glu243=)
c.609A>G (p.Glu203=)
2g.189565385T>GCA349988561SLC40A1c.729A>C (p.Glu243Asp)
c.609A>C (p.Glu203Asp)
2g.189565386T>ACA349988562SLC40A1c.728A>T (p.Glu243Val)
c.608A>T (p.Glu203Val)
2g.189565386T>CCA349988563SLC40A1c.728A>G (p.Glu243Gly)
c.608A>G (p.Glu203Gly)
2g.189565386T>GCA349988564SLC40A1c.728A>C (p.Glu243Ala)
c.608A>C (p.Glu203Ala)
2g.189565387C>ACA349988567SLC40A1c.727G>T (p.Glu243Ter)
c.607G>T (p.Glu203Ter)
2g.189565387C>GCA349988565SLC40A1c.727G>C (p.Glu243Gln)
c.607G>C (p.Glu203Gln)
2g.189565387C>TCA349988566SLC40A1c.727G>A (p.Glu243Lys)
c.607G>A (p.Glu203Lys)
2g.189565388C>ACA349988568SLC40A1c.726G>T (p.Glu242Asp)
c.606G>T (p.Glu202Asp)
2g.189565388C=CA1315655724SLC40A1c.726G= (p.Glu242=)
c.606G= (p.Glu202=)
2g.189565388C>GCA349988569SLC40A1c.726G>C (p.Glu242Asp)
c.606G>C (p.Glu202Asp)
2g.189565388C>TCA430502431SLC40A1c.726G>A (p.Glu242=)
c.606G>A (p.Glu202=)
 dbSNP gnomAD v4
2g.189565390_189565391delCA2662329079SLC40A1c.725_726del (p.Glu242GlyfsTer3)
c.605_606del (p.Glu202GlyfsTer3)
 gnomAD v4
2g.189565389T>ACA349988570SLC40A1c.725A>T (p.Glu242Val)
c.605A>T (p.Glu202Val)
2g.189565389T>CCA2024171SLC40A1c.725A>G (p.Glu242Gly)
c.605A>G (p.Glu202Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565389T>GCA349988571SLC40A1c.725A>C (p.Glu242Ala)
c.605A>C (p.Glu202Ala)
2g.189565389T=CA1315655729SLC40A1c.725A= (p.Glu242=)
c.605A= (p.Glu202=)
2g.189565390C>ACA349988572SLC40A1c.724G>T (p.Glu242Ter)
c.604G>T (p.Glu202Ter)
2g.189565390C>GCA349988573SLC40A1c.724G>C (p.Glu242Gln)
c.604G>C (p.Glu202Gln)
2g.189565390C>TCA349988574SLC40A1c.724G>A (p.Glu242Lys)
c.604G>A (p.Glu202Lys)
2g.189565391T>ACA2024172SLC40A1c.723A>T (p.Glu241Asp)
c.603A>T (p.Glu201Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565391T>CCA430502435SLC40A1c.723A>G (p.Glu241=)
c.603A>G (p.Glu201=)
 dbSNP gnomAD v3 gnomAD v4
2g.189565391T>GCA349988575SLC40A1c.723A>C (p.Glu241Asp)
c.603A>C (p.Glu201Asp)
2g.189565391T=CA1315655733SLC40A1c.723A= (p.Glu241=)
c.603A= (p.Glu201=)
2g.189565392T>ACA349988576SLC40A1c.722A>T (p.Glu241Val)
c.602A>T (p.Glu201Val)
 gnomAD v4
2g.189565392T>CCA349988577SLC40A1c.722A>G (p.Glu241Gly)
c.602A>G (p.Glu201Gly)
2g.189565392T>GCA349988578SLC40A1c.722A>C (p.Glu241Ala)
c.602A>C (p.Glu201Ala)
2g.189565393C>ACA349988579SLC40A1c.721G>T (p.Glu241Ter)
c.601G>T (p.Glu201Ter)
2g.189565393C>GCA349988581SLC40A1c.721G>C (p.Glu241Gln)
c.601G>C (p.Glu201Gln)
2g.189565393C>TCA349988580SLC40A1c.721G>A (p.Glu241Lys)
c.601G>A (p.Glu201Lys)
2g.189565393_189565396delinsCTTTCA1315655736SLC40A1c.718_721delinsAAAG (p.Lys240=)
c.598_601delinsAAAG (p.Lys200=)
2g.189565394T>ACA349988582SLC40A1c.720A>T (p.Lys240Asn)
c.600A>T (p.Lys200Asn)
2g.189565394T>CCA430502442SLC40A1c.720A>G (p.Lys240=)
c.600A>G (p.Lys200=)
2g.189565394T>GCA349988583SLC40A1c.720A>C (p.Lys240Asn)
c.600A>C (p.Lys200Asn)
2g.189565394_189565396delCA2024173SLC40A1c.718_720del (p.Lys240del)
c.598_600del (p.Lys200del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565395T>ACA349988584SLC40A1c.719A>T (p.Lys240Ile)
c.599A>T (p.Lys200Ile)
2g.189565395T>CCA349988585SLC40A1c.719A>G (p.Lys240Arg)
c.599A>G (p.Lys200Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.189565395T>GCA349988586SLC40A1c.719A>C (p.Lys240Thr)
c.599A>C (p.Lys200Thr)
2g.189565395T=CA1315655743SLC40A1c.719A= (p.Lys240=)
c.599A= (p.Lys200=)
2g.189565396T>ACA349988587SLC40A1c.718A>T (p.Lys240Ter)
c.598A>T (p.Lys200Ter)
2g.189565396T>CCA349988588SLC40A1c.718A>G (p.Lys240Glu)
c.598A>G (p.Lys200Glu)
 dbSNP gnomAD v4
2g.189565396T>GCA349988589SLC40A1c.718A>C (p.Lys240Gln)
c.598A>C (p.Lys200Gln)
2g.189565396T=CA1315655746SLC40A1c.718A= (p.Lys240=)
c.598A= (p.Lys200=)
2g.189565397A>CCA430502451SLC40A1c.717T>G (p.Leu239=)
c.597T>G (p.Leu199=)
2g.189565397A>GCA430502450SLC40A1c.717T>C (p.Leu239=)
c.597T>C (p.Leu199=)
2g.189565397A>TCA430502447SLC40A1c.717T>A (p.Leu239=)
c.597T>A (p.Leu199=)
2g.189565398A>CCA349988590SLC40A1c.716T>G (p.Leu239Arg)
c.596T>G (p.Leu199Arg)
2g.189565398A>GCA349988591SLC40A1c.716T>C (p.Leu239Pro)
c.596T>C (p.Leu199Pro)
2g.189565398A>TCA349988592SLC40A1c.716T>A (p.Leu239His)
c.596T>A (p.Leu199His)
2g.189565399G>ACA349988595SLC40A1c.715C>T (p.Leu239Phe)
c.595C>T (p.Leu199Phe)
2g.189565399G>CCA349988593SLC40A1c.715C>G (p.Leu239Val)
c.595C>G (p.Leu199Val)
 gnomAD v4
2g.189565399G>TCA349988594SLC40A1c.715C>A (p.Leu239Ile)
c.595C>A (p.Leu199Ile)
2g.189565400A>CCA430502453SLC40A1c.714T>G (p.Gly238=)
c.594T>G (p.Gly198=)
2g.189565400A>GCA430502454SLC40A1c.714T>C (p.Gly238=)
c.594T>C (p.Gly198=)
2g.189565400A>TCA430502456SLC40A1c.714T>A (p.Gly238=)
c.594T>A (p.Gly198=)
2g.189565401C>ACA349988596SLC40A1c.713G>T (p.Gly238Val)
c.593G>T (p.Gly198Val)
 dbSNP
2g.189565401C>GCA349988597SLC40A1c.713G>C (p.Gly238Ala)
c.593G>C (p.Gly198Ala)
2g.189565401C>TCA349988598SLC40A1c.713G>A (p.Gly238Asp)
c.593G>A (p.Gly198Asp)
 gnomAD v4
2g.189565402C>ACA349988599SLC40A1c.712G>T (p.Gly238Cys)
c.592G>T (p.Gly198Cys)
2g.189565402C=CA1315655749SLC40A1c.712G= (p.Gly238=)
c.592G= (p.Gly198=)
2g.189565402C>GCA349988600SLC40A1c.712G>C (p.Gly238Arg)
c.592G>C (p.Gly198Arg)
2g.189565402C>TCA62903055SLC40A1c.712G>A (p.Gly238Ser)
c.592G>A (p.Gly198Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565403A>CCA430502462SLC40A1c.711T>G (p.Ala237=)
c.591T>G (p.Ala197=)
2g.189565403A>GCA430502463SLC40A1c.711T>C (p.Ala237=)
c.591T>C (p.Ala197=)
2g.189565403A>TCA430502464SLC40A1c.711T>A (p.Ala237=)
c.591T>A (p.Ala197=)
2g.189565404G>ACA2024174SLC40A1c.710C>T (p.Ala237Val)
c.590C>T (p.Ala197Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565404G>CCA349988601SLC40A1c.710C>G (p.Ala237Gly)
c.590C>G (p.Ala197Gly)
2g.189565404G=CA1315655752SLC40A1c.710C= (p.Ala237=)
c.590C= (p.Ala197=)
2g.189565404G>TCA349988602SLC40A1c.710C>A (p.Ala237Asp)
c.590C>A (p.Ala197Asp)
2g.189565405C>ACA349988603SLC40A1c.709G>T (p.Ala237Ser)
c.589G>T (p.Ala197Ser)
2g.189565405C=CA1315655757SLC40A1c.709G= (p.Ala237=)
c.589G= (p.Ala197=)
2g.189565405C>GCA349988604SLC40A1c.709G>C (p.Ala237Pro)
c.589G>C (p.Ala197Pro)
2g.189565405C>TCA349988605SLC40A1c.709G>A (p.Ala237Thr)
c.589G>A (p.Ala197Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.189565406T>ACA349988607SLC40A1c.708A>T (p.Lys236Asn)
c.588A>T (p.Lys196Asn)
2g.189565406T>CCA430502470SLC40A1c.708A>G (p.Lys236=)
c.588A>G (p.Lys196=)
 dbSNP
2g.189565406T>GCA349988606SLC40A1c.708A>C (p.Lys236Asn)
c.588A>C (p.Lys196Asn)
2g.189565406T=CA1315655759SLC40A1c.708A= (p.Lys236=)
c.588A= (p.Lys196=)
2g.189565407T>ACA349988608SLC40A1c.707A>T (p.Lys236Ile)
c.587A>T (p.Lys196Ile)
2g.189565407T>CCA349988610SLC40A1c.707A>G (p.Lys236Arg)
c.587A>G (p.Lys196Arg)
2g.189565407T>GCA349988609SLC40A1c.707A>C (p.Lys236Thr)
c.587A>C (p.Lys196Thr)
2g.189565408T>ACA349988611SLC40A1c.706A>T (p.Lys236Ter)
c.586A>T (p.Lys196Ter)
2g.189565408T>CCA349988612SLC40A1c.706A>G (p.Lys236Glu)
c.586A>G (p.Lys196Glu)
2g.189565408T>GCA349988613SLC40A1c.706A>C (p.Lys236Gln)
c.586A>C (p.Lys196Gln)
2g.189565409C>ACA430502475SLC40A1c.705G>T (p.Val235=)
c.585G>T (p.Val195=)
2g.189565409C>GCA430502476SLC40A1c.705G>C (p.Val235=)
c.585G>C (p.Val195=)
2g.189565409C>TCA430502477SLC40A1c.705G>A (p.Val235=)
c.585G>A (p.Val195=)
 gnomAD v4
2g.189565410A>CCA349988614SLC40A1c.704T>G (p.Val235Gly)
c.584T>G (p.Val195Gly)
2g.189565410A>GCA349988615SLC40A1c.704T>C (p.Val235Ala)
c.584T>C (p.Val195Ala)
 gnomAD v4
2g.189565410A>TCA349988616SLC40A1c.704T>A (p.Val235Glu)
c.584T>A (p.Val195Glu)
2g.189565411C>ACA349988618SLC40A1c.703G>T (p.Val235Leu)
c.583G>T (p.Val195Leu)
2g.189565411C=CA1315655762SLC40A1c.703G= (p.Val235=)
c.583G= (p.Val195=)
2g.189565411C>GCA2024175SLC40A1c.703G>C (p.Val235Leu)
c.583G>C (p.Val195Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565411C>TCA349988617SLC40A1c.703G>A (p.Val235Met)
c.583G>A (p.Val195Met)
2g.189565412A>CCA430502486SLC40A1c.702T>G (p.Ala234=)
c.582T>G (p.Ala194=)
2g.189565412A>GCA430502489SLC40A1c.702T>C (p.Ala234=)
c.582T>C (p.Ala194=)
2g.189565412A>TCA430502491SLC40A1c.702T>A (p.Ala234=)
c.582T>A (p.Ala194=)
2g.189565413G>ACA349988619SLC40A1c.701C>T (p.Ala234Val)
c.581C>T (p.Ala194Val)
2g.189565413G>CCA349988620SLC40A1c.701C>G (p.Ala234Gly)
c.581C>G (p.Ala194Gly)
2g.189565413G>TCA349988621SLC40A1c.701C>A (p.Ala234Asp)
c.581C>A (p.Ala194Asp)
2g.189565414C>ACA349988622SLC40A1c.700G>T (p.Ala234Ser)
c.580G>T (p.Ala194Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.189565414C=CA1315655765SLC40A1c.700G= (p.Ala234=)
c.580G= (p.Ala194=)
2g.189565414C>GCA349988623SLC40A1c.700G>C (p.Ala234Pro)
c.580G>C (p.Ala194Pro)
2g.189565414C>TCA349988624SLC40A1c.700G>A (p.Ala234Thr)
c.580G>A (p.Ala194Thr)
2g.189565415T>ACA430502495SLC40A1c.699A>T (p.Leu233=)
c.579A>T (p.Leu193=)
2g.189565415T>CCA2024176SLC40A1c.699A>G (p.Leu233=)
c.579A>G (p.Leu193=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565415T>GCA430502497SLC40A1c.699A>C (p.Leu233=)
c.579A>C (p.Leu193=)
2g.189565415T=CA1315655767SLC40A1c.699A= (p.Leu233=)
c.579A= (p.Leu193=)
2g.189565416A=CA1315655771SLC40A1c.698T= (p.Leu233=)
c.578T= (p.Leu193=)
2g.189565416A>CCA349988625SLC40A1c.698T>G (p.Leu233Arg)
c.578T>G (p.Leu193Arg)
2g.189565416A>GCA349988627SLC40A1c.698T>C (p.Leu233Pro)
c.578T>C (p.Leu193Pro)
 ClinVar dbSNP
2g.189565416A>TCA349988626SLC40A1c.698T>A (p.Leu233Gln)
c.578T>A (p.Leu193Gln)
2g.189565417G>ACA2024177SLC40A1c.697C>T (p.Leu233=)
c.577C>T (p.Leu193=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565417G>CCA62903056SLC40A1c.697C>G (p.Leu233Val)
c.577C>G (p.Leu193Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189565417G=CA1315655776SLC40A1c.697C= (p.Leu233=)
c.577C= (p.Leu193=)
2g.189565417G>TCA349988628SLC40A1c.697C>A (p.Leu233Ile)
c.577C>A (p.Leu193Ile)
2g.189565418A>CCA430502506SLC40A1c.696T>G (p.Ala232=)
c.576T>G (p.Ala192=)
2g.189565418A>GCA430502504SLC40A1c.696T>C (p.Ala232=)
c.576T>C (p.Ala192=)
2g.189565418A>TCA430502502SLC40A1c.696T>A (p.Ala232=)
c.576T>A (p.Ala192=)
2g.189565419G>ACA349988629SLC40A1c.695C>T (p.Ala232Val)
c.575C>T (p.Ala192Val)
2g.189565419G>CCA2024179SLC40A1c.695C>G (p.Ala232Gly)
c.575C>G (p.Ala192Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565419G=CA1315655786SLC40A1c.695C= (p.Ala232=)
c.575C= (p.Ala192=)
2g.189565419G>TCA2024178SLC40A1c.695C>A (p.Ala232Asp)
c.575C>A (p.Ala192Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565420C>ACA349988630SLC40A1c.694G>T (p.Ala232Ser)
c.574G>T (p.Ala192Ser)
2g.189565420C>GCA349988631SLC40A1c.694G>C (p.Ala232Pro)
c.574G>C (p.Ala192Pro)
2g.189565420C>TCA349988632SLC40A1c.694G>A (p.Ala232Thr)
c.574G>A (p.Ala192Thr)
2g.189565421T>ACA430502510SLC40A1c.693A>T (p.Pro231=)
c.573A>T (p.Pro191=)
2g.189565421T>CCA430502512SLC40A1c.693A>G (p.Pro231=)
c.573A>G (p.Pro191=)
2g.189565421T>GCA430502513SLC40A1c.693A>C (p.Pro231=)
c.573A>C (p.Pro191=)
2g.189565422G>ACA349988633SLC40A1c.692C>T (p.Pro231Leu)
c.572C>T (p.Pro191Leu)
2g.189565422G>CCA349988634SLC40A1c.692C>G (p.Pro231Arg)
c.572C>G (p.Pro191Arg)
2g.189565422G>TCA349988635SLC40A1c.692C>A (p.Pro231Gln)
c.572C>A (p.Pro191Gln)
2g.189565423G>ACA349988636SLC40A1c.691C>T (p.Pro231Ser)
c.571C>T (p.Pro191Ser)
2g.189565423G>CCA349988638SLC40A1c.691C>G (p.Pro231Ala)
c.571C>G (p.Pro191Ala)
 gnomAD v4
2g.189565423G>TCA349988637SLC40A1c.691C>A (p.Pro231Thr)
c.571C>A (p.Pro191Thr)
2g.189565424G>ACA430502518SLC40A1c.690C>T (p.Thr230=)
c.570C>T (p.Thr190=)
 ClinVar
2g.189565424G>CCA430502522SLC40A1c.690C>G (p.Thr230=)
c.570C>G (p.Thr190=)
2g.189565424G>TCA430502521SLC40A1c.690C>A (p.Thr230=)
c.570C>A (p.Thr190=)
 gnomAD v4
2g.189565425G>ACA349988639SLC40A1c.689C>T (p.Thr230Ile)
c.569C>T (p.Thr190Ile)
 gnomAD v4
2g.189565425G>CCA349988640SLC40A1c.689C>G (p.Thr230Ser)
c.569C>G (p.Thr190Ser)
 gnomAD v4
2g.189565425G=CA1315655789SLC40A1c.689C= (p.Thr230=)
c.569C= (p.Thr190=)
2g.189565425G>TCA2024180SLC40A1c.689C>A (p.Thr230Asn)
c.569C>A (p.Thr190Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565426T>ACA349988641SLC40A1c.688A>T (p.Thr230Ser)
c.568A>T (p.Thr190Ser)
 gnomAD v4
2g.189565426T>CCA349988642SLC40A1c.688A>G (p.Thr230Ala)
c.568A>G (p.Thr190Ala)
2g.189565426T>GCA349988643SLC40A1c.688A>C (p.Thr230Pro)
c.568A>C (p.Thr190Pro)
2g.189565427T>ACA349988644SLC40A1c.687A>T (p.Lys229Asn)
c.567A>T (p.Lys189Asn)
2g.189565427T>CCA430502528SLC40A1c.687A>G (p.Lys229=)
c.567A>G (p.Lys189=)
2g.189565427T>GCA349988645SLC40A1c.687A>C (p.Lys229Asn)
c.567A>C (p.Lys189Asn)
2g.189565428T>ACA349988646SLC40A1c.686A>T (p.Lys229Ile)
c.566A>T (p.Lys189Ile)
 gnomAD v4
2g.189565428T>CCA349988647SLC40A1c.686A>G (p.Lys229Arg)
c.566A>G (p.Lys189Arg)
2g.189565428T>GCA349988648SLC40A1c.686A>C (p.Lys229Thr)
c.566A>C (p.Lys189Thr)
2g.189565429T>ACA349988649SLC40A1c.685A>T (p.Lys229Ter)
c.565A>T (p.Lys189Ter)
2g.189565429T>CCA349988650SLC40A1c.685A>G (p.Lys229Glu)
c.565A>G (p.Lys189Glu)
2g.189565429T>GCA349988651SLC40A1c.685A>C (p.Lys229Gln)
c.565A>C (p.Lys189Gln)
2g.189565430C>ACA349988652SLC40A1c.684G>T (p.Gln228His)
c.564G>T (p.Gln188His)
2g.189565430C>GCA349988653SLC40A1c.684G>C (p.Gln228His)
c.564G>C (p.Gln188His)
2g.189565430C>TCA430502533SLC40A1c.684G>A (p.Gln228=)
c.564G>A (p.Gln188=)
2g.189565431T>ACA349988654SLC40A1c.683A>T (p.Gln228Leu)
c.563A>T (p.Gln188Leu)
2g.189565431T>CCA349988655SLC40A1c.683A>G (p.Gln228Arg)
c.563A>G (p.Gln188Arg)
 gnomAD v4
2g.189565431T>GCA349988656SLC40A1c.683A>C (p.Gln228Pro)
c.563A>C (p.Gln188Pro)
2g.189565432G>ACA349988657SLC40A1c.682C>T (p.Gln228Ter)
c.562C>T (p.Gln188Ter)
2g.189565432G>CCA349988658SLC40A1c.682C>G (p.Gln228Glu)
c.562C>G (p.Gln188Glu)
 gnomAD v4
2g.189565432G>TCA349988659SLC40A1c.682C>A (p.Gln228Lys)
c.562C>A (p.Gln188Lys)
2g.189565433G>ACA430502539SLC40A1c.681C>T (p.Tyr227=)
c.561C>T (p.Tyr187=)
 dbSNP gnomAD v4
2g.189565433G>CCA349988660SLC40A1c.681C>G (p.Tyr227Ter)
c.561C>G (p.Tyr187Ter)
2g.189565433G=CA1315655793SLC40A1c.681C= (p.Tyr227=)
c.561C= (p.Tyr187=)
2g.189565433G>TCA349988661SLC40A1c.681C>A (p.Tyr227Ter)
c.561C>A (p.Tyr187Ter)
2g.189565434T>ACA349988662SLC40A1c.680A>T (p.Tyr227Phe)
c.560A>T (p.Tyr187Phe)
2g.189565434T>CCA349988663SLC40A1c.680A>G (p.Tyr227Cys)
c.560A>G (p.Tyr187Cys)
 dbSNP gnomAD v4
2g.189565434T>GCA349988664SLC40A1c.680A>C (p.Tyr227Ser)
c.560A>C (p.Tyr187Ser)
 dbSNP
2g.189565434T=CA1315655796SLC40A1c.680A= (p.Tyr227=)
c.560A= (p.Tyr187=)
2g.189565435A>CCA349988665SLC40A1c.679T>G (p.Tyr227Asp)
c.559T>G (p.Tyr187Asp)
 ClinVar dbSNP
2g.189565435A>GCA349988667SLC40A1c.679T>C (p.Tyr227His)
c.559T>C (p.Tyr187His)
2g.189565435A>TCA349988666SLC40A1c.679T>A (p.Tyr227Asn)
c.559T>A (p.Tyr187Asn)
2g.189565436A>CCA430502544SLC40A1c.678T>G (p.Val226=)
c.558T>G (p.Val186=)
2g.189565436A>GCA430502545SLC40A1c.678T>C (p.Val226=)
c.558T>C (p.Val186=)
2g.189565436A>TCA430502546SLC40A1c.678T>A (p.Val226=)
c.558T>A (p.Val186=)
2g.189565437A>CCA349988668SLC40A1c.677T>G (p.Val226Gly)
c.557T>G (p.Val186Gly)
2g.189565437A>GCA349988669SLC40A1c.677T>C (p.Val226Ala)
c.557T>C (p.Val186Ala)
2g.189565437A>TCA349988670SLC40A1c.677T>A (p.Val226Asp)
c.557T>A (p.Val186Asp)
2g.189565438C>ACA349988671SLC40A1c.676G>T (p.Val226Phe)
c.556G>T (p.Val186Phe)
2g.189565438C=CA1315655800SLC40A1c.676G= (p.Val226=)
c.556G= (p.Val186=)
2g.189565438C>GCA349988672SLC40A1c.676G>C (p.Val226Leu)
c.556G>C (p.Val186Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189565438C>TCA349988673SLC40A1c.676G>A (p.Val226Ile)
c.556G>A (p.Val186Ile)
2g.189565439C>ACA349988675SLC40A1c.675G>T (p.Lys225Asn)
c.555G>T (p.Lys185Asn)
2g.189565439C=CA1315655804SLC40A1c.675G= (p.Lys225=)
c.555G= (p.Lys185=)
2g.189565439C>GCA349988674SLC40A1c.675G>C (p.Lys225Asn)
c.555G>C (p.Lys185Asn)
2g.189565439C>TCA430502547SLC40A1c.675G>A (p.Lys225=)
c.555G>A (p.Lys185=)
 dbSNP
2g.189565440T>ACA349988676SLC40A1c.674A>T (p.Lys225Met)
c.554A>T (p.Lys185Met)
2g.189565440T>CCA349988677SLC40A1c.674A>G (p.Lys225Arg)
c.554A>G (p.Lys185Arg)
2g.189565440T>GCA349988678SLC40A1c.674A>C (p.Lys225Thr)
c.554A>C (p.Lys185Thr)
2g.189565441T>ACA349988679SLC40A1c.673A>T (p.Lys225Ter)
c.553A>T (p.Lys185Ter)
2g.189565441T>CCA2024181SLC40A1c.673A>G (p.Lys225Glu)
c.553A>G (p.Lys185Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565441T>GCA349988680SLC40A1c.673A>C (p.Lys225Gln)
c.553A>C (p.Lys185Gln)
2g.189565441T=CA1315655807SLC40A1c.673A= (p.Lys225=)
c.553A= (p.Lys185=)
2g.189565442C>ACA349988683SLC40A1c.672G>T (p.Trp224Cys)
c.552G>T (p.Trp184Cys)
2g.189565442C>GCA349988681SLC40A1c.672G>C (p.Trp224Cys)
c.552G>C (p.Trp184Cys)
2g.189565442C>TCA349988682SLC40A1c.672G>A (p.Trp224Ter)
c.552G>A (p.Trp184Ter)
2g.189565443C>ACA349988684SLC40A1c.671G>T (p.Trp224Leu)
c.551G>T (p.Trp184Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565443C=CA1315655814SLC40A1c.671G= (p.Trp224=)
c.551G= (p.Trp184=)
2g.189565443C>GCA349988685SLC40A1c.671G>C (p.Trp224Ser)
c.551G>C (p.Trp184Ser)
2g.189565443C>TCA349988686SLC40A1c.671G>A (p.Trp224Ter)
c.551G>A (p.Trp184Ter)
2g.189565444A>CCA349988687SLC40A1c.670T>G (p.Trp224Gly)
c.550T>G (p.Trp184Gly)
2g.189565444A>GCA349988688SLC40A1c.670T>C (p.Trp224Arg)
c.550T>C (p.Trp184Arg)
2g.189565444A>TCA349988689SLC40A1c.670T>A (p.Trp224Arg)
c.550T>A (p.Trp184Arg)
 COSMIC
2g.189565445G>ACA430502551SLC40A1c.669C>T (p.Leu223=)
c.549C>T (p.Leu183=)
2g.189565445G>CCA430502553SLC40A1c.669C>G (p.Leu223=)
c.549C>G (p.Leu183=)
2g.189565445G>TCA430502552SLC40A1c.669C>A (p.Leu223=)
c.549C>A (p.Leu183=)
2g.189565446A>CCA349988690SLC40A1c.668T>G (p.Leu223Arg)
c.548T>G (p.Leu183Arg)
2g.189565446A>GCA349988691SLC40A1c.668T>C (p.Leu223Pro)
c.548T>C (p.Leu183Pro)
2g.189565446A>TCA349988692SLC40A1c.668T>A (p.Leu223His)
c.548T>A (p.Leu183His)
2g.189565447G>ACA349988693SLC40A1c.667C>T (p.Leu223Phe)
c.547C>T (p.Leu183Phe)
2g.189565447G>CCA349988694SLC40A1c.667C>G (p.Leu223Val)
c.547C>G (p.Leu183Val)
2g.189565447G=CA1315655817SLC40A1c.667C= (p.Leu223=)
c.547C= (p.Leu183=)
2g.189565447G>TCA349988695SLC40A1c.667C>A (p.Leu223Ile)
c.547C>A (p.Leu183Ile)
 dbSNP
2g.189565448C>ACA430502558SLC40A1c.666G>T (p.Leu222=)
c.546G>T (p.Leu182=)
 dbSNP
2g.189565448C=CA1315655819SLC40A1c.666G= (p.Leu222=)
c.546G= (p.Leu182=)
2g.189565448C>GCA430502559SLC40A1c.666G>C (p.Leu222=)
c.546G>C (p.Leu182=)
2g.189565448C>TCA430502560SLC40A1c.666G>A (p.Leu222=)
c.546G>A (p.Leu182=)
 gnomAD v4
2g.189565449A=CA1315655820SLC40A1c.665T= (p.Leu222=)
c.545T= (p.Leu182=)
2g.189565449A>CCA349988696SLC40A1c.665T>G (p.Leu222Arg)
c.545T>G (p.Leu182Arg)
2g.189565449A>GCA349988698SLC40A1c.665T>C (p.Leu222Pro)
c.545T>C (p.Leu182Pro)
 dbSNP gnomAD v4
2g.189565449A>TCA349988697SLC40A1c.665T>A (p.Leu222Gln)
c.545T>A (p.Leu182Gln)
2g.189565450G>ACA430502562SLC40A1c.664C>T (p.Leu222=)
c.544C>T (p.Leu182=)
2g.189565450G>CCA349988699SLC40A1c.664C>G (p.Leu222Val)
c.544C>G (p.Leu182Val)
2g.189565450G>TCA349988700SLC40A1c.664C>A (p.Leu222Met)
c.544C>A (p.Leu182Met)
2g.189565451A=CA1315655825SLC40A1c.663T= (p.Val221=)
c.543T= (p.Val181=)
2g.189565451A>CCA430502566SLC40A1c.663T>G (p.Val221=)
c.543T>G (p.Val181=)
2g.189565451A>GCA2024182SLC40A1c.663T>C (p.Val221=)
c.543T>C (p.Val181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565451A>TCA430502567SLC40A1c.663T>A (p.Val221=)
c.543T>A (p.Val181=)
 dbSNP
2g.189565452A>CCA349988701SLC40A1c.662T>G (p.Val221Gly)
c.542T>G (p.Val181Gly)
2g.189565452A>GCA349988702SLC40A1c.662T>C (p.Val221Ala)
c.542T>C (p.Val181Ala)
2g.189565452A>TCA349988703SLC40A1c.662T>A (p.Val221Asp)
c.542T>A (p.Val181Asp)
2g.189565453C>ACA349988704SLC40A1c.661G>T (p.Val221Phe)
c.541G>T (p.Val181Phe)
2g.189565453C=CA1315655828SLC40A1c.661G= (p.Val221=)
c.541G= (p.Val181=)
2g.189565453C>GCA349988705SLC40A1c.661G>C (p.Val221Leu)
c.541G>C (p.Val181Leu)
2g.189565453C>TCA2024183SLC40A1c.661G>A (p.Val221Ile)
c.541G>A (p.Val181Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189565454G>ACA2024184SLC40A1c.660C>T (p.Tyr220=)
c.540C>T (p.Tyr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189565454G>CCA349988706SLC40A1c.660C>G (p.Tyr220Ter)
c.540C>G (p.Tyr180Ter)
2g.189565454G=CA1315655830SLC40A1c.660C= (p.Tyr220=)
c.540C= (p.Tyr180=)
2g.189565454G>TCA349988707SLC40A1c.660C>A (p.Tyr220Ter)
c.540C>A (p.Tyr180Ter)
2g.189565455T>ACA349988710SLC40A1c.659A>T (p.Tyr220Phe)
c.539A>T (p.Tyr180Phe)
2g.189565455T>CCA349988708SLC40A1c.659A>G (p.Tyr220Cys)
c.539A>G (p.Tyr180Cys)
 gnomAD v4
2g.189565455T>GCA349988709SLC40A1c.659A>C (p.Tyr220Ser)
c.539A>C (p.Tyr180Ser)
2g.189565456A>CCA349988711SLC40A1c.658T>G (p.Tyr220Asp)
c.538T>G (p.Tyr180Asp)
2g.189565456A>GCA349988712SLC40A1c.658T>C (p.Tyr220His)
c.538T>C (p.Tyr180His)
2g.189565456A>TCA349988713SLC40A1c.658T>A (p.Tyr220Asn)
c.538T>A (p.Tyr180Asn)
2g.189565457C>ACA349988714SLC40A1c.657G>T (p.Glu219Asp)
c.537G>T (p.Glu179Asp)
2g.189565457C=CA1315655833SLC40A1c.657G= (p.Glu219=)
c.537G= (p.Glu179=)
2g.189565457C>GCA349988715SLC40A1c.657G>C (p.Glu219Asp)
c.537G>C (p.Glu179Asp)
2g.189565457C>TCA430502578SLC40A1c.657G>A (p.Glu219=)
c.537G>A (p.Glu179=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189565458T>ACA349988716SLC40A1c.656A>T (p.Glu219Val)
c.536A>T (p.Glu179Val)
2g.189565458T>CCA349988717SLC40A1c.656A>G (p.Glu219Gly)
c.536A>G (p.Glu179Gly)
2g.189565458T>GCA349988718SLC40A1c.656A>C (p.Glu219Ala)
c.536A>C (p.Glu179Ala)
2g.189565459C>ACA349988719SLC40A1c.655G>T (p.Glu219Ter)
c.535G>T (p.Glu179Ter)
2g.189565459C>GCA349988720SLC40A1c.655G>C (p.Glu219Gln)
c.535G>C (p.Glu179Gln)
2g.189565459C>TCA349988721SLC40A1c.655G>A (p.Glu219Lys)
c.535G>A (p.Glu179Lys)
2g.189565460C>ACA430502585SLC40A1c.654G>T (p.Val218=)
c.534G>T (p.Val178=)
2g.189565460C=CA1315655835SLC40A1c.654G= (p.Val218=)
c.534G= (p.Val178=)
2g.189565460C>GCA430502581SLC40A1c.654G>C (p.Val218=)
c.534G>C (p.Val178=)
2g.189565460C>TCA430502583SLC40A1c.654G>A (p.Val218=)
c.534G>A (p.Val178=)
 dbSNP gnomAD v3 gnomAD v4
2g.189565461A>CCA349988724SLC40A1c.653T>G (p.Val218Gly)
c.533T>G (p.Val178Gly)
 gnomAD v4
2g.189565461A>GCA349988723SLC40A1c.653T>C (p.Val218Ala)
c.533T>C (p.Val178Ala)
2g.189565461A>TCA349988722SLC40A1c.653T>A (p.Val218Glu)
c.533T>A (p.Val178Glu)
2g.189565462C>ACA349988726SLC40A1c.652G>T (p.Val218Leu)
c.532G>T (p.Val178Leu)
2g.189565462C=CA1315655838SLC40A1c.652G= (p.Val218=)
c.532G= (p.Val178=)
2g.189565462C>GCA349988725SLC40A1c.652G>C (p.Val218Leu)
c.532G>C (p.Val178Leu)
2g.189565462C>TCA2024185SLC40A1c.652G>A (p.Val218Met)
c.532G>A (p.Val178Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565463G>ACA2024186SLC40A1c.651C>T (p.Cys217=)
c.531C>T (p.Cys177=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565463G>CCA349988728SLC40A1c.651C>G (p.Cys217Trp)
c.531C>G (p.Cys177Trp)
2g.189565463G=CA1315655844SLC40A1c.651C= (p.Cys217=)
c.531C= (p.Cys177=)
2g.189565463G>TCA349988727SLC40A1c.651C>A (p.Cys217Ter)
c.531C>A (p.Cys177Ter)
2g.189565464C>ACA349988729SLC40A1c.650G>T (p.Cys217Phe)
c.530G>T (p.Cys177Phe)
2g.189565464C>GCA349988730SLC40A1c.650G>C (p.Cys217Ser)
c.530G>C (p.Cys177Ser)
2g.189565464C>TCA349988731SLC40A1c.650G>A (p.Cys217Tyr)
c.530G>A (p.Cys177Tyr)
2g.189565465A>CCA349988732SLC40A1c.649T>G (p.Cys217Gly)
c.529T>G (p.Cys177Gly)
2g.189565465A>GCA349988733SLC40A1c.649T>C (p.Cys217Arg)
c.529T>C (p.Cys177Arg)
 gnomAD v4
2g.189565465A>TCA349988734SLC40A1c.649T>A (p.Cys217Ser)
c.529T>A (p.Cys177Ser)
2g.189565466C>ACA349988735SLC40A1c.648G>T (p.Met216Ile)
c.528G>T (p.Met176Ile)
2g.189565466C>GCA349988736SLC40A1c.648G>C (p.Met216Ile)
c.528G>C (p.Met176Ile)
 COSMIC
2g.189565466C>TCA349988737SLC40A1c.648G>A (p.Met216Ile)
c.528G>A (p.Met176Ile)
2g.189565467A>CCA349988738SLC40A1c.647T>G (p.Met216Arg)
c.527T>G (p.Met176Arg)
2g.189565467A>GCA349988739SLC40A1c.647T>C (p.Met216Thr)
c.527T>C (p.Met176Thr)
 gnomAD v4
2g.189565467A>TCA349988740SLC40A1c.647T>A (p.Met216Lys)
c.527T>A (p.Met176Lys)
2g.189565468T>ACA349988741SLC40A1c.646A>T (p.Met216Leu)
c.526A>T (p.Met176Leu)
2g.189565468T>CCA2024187SLC40A1c.646A>G (p.Met216Val)
c.526A>G (p.Met176Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565468T>GCA62903057SLC40A1c.646A>C (p.Met216Leu)
c.526A>C (p.Met176Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189565468T=CA1315655850SLC40A1c.646A= (p.Met216=)
c.526A= (p.Met176=)
2g.189565469G>ACA430502600SLC40A1c.645C>T (p.Ser215=)
c.525C>T (p.Ser175=)
2g.189565469G>CCA430502601SLC40A1c.645C>G (p.Ser215=)
c.525C>G (p.Ser175=)
2g.189565469G>TCA430502602SLC40A1c.645C>A (p.Ser215=)
c.525C>A (p.Ser175=)
2g.189565470G>ACA349988742SLC40A1c.644C>T (p.Ser215Phe)
c.524C>T (p.Ser175Phe)
2g.189565470G>CCA349988743SLC40A1c.644C>G (p.Ser215Cys)
c.524C>G (p.Ser175Cys)
2g.189565470G>TCA349988744SLC40A1c.644C>A (p.Ser215Tyr)
c.524C>A (p.Ser175Tyr)
2g.189565471A>CCA349988745SLC40A1c.643T>G (p.Ser215Ala)
c.523T>G (p.Ser175Ala)
2g.189565471A>GCA349988746SLC40A1c.643T>C (p.Ser215Pro)
c.523T>C (p.Ser175Pro)
2g.189565471A>TCA349988747SLC40A1c.643T>A (p.Ser215Thr)
c.523T>A (p.Ser175Thr)
2g.189565471_189565472insGCA430502606SLC40A1c.642_643insC (p.Ser215LeufsTer26)
c.522_523insC (p.Ser175LeufsTer26)
2g.189565472T>ACA430502608SLC40A1c.642A>T (p.Val214=)
c.522A>T (p.Val174=)
2g.189565472T>CCA430502609SLC40A1c.642A>G (p.Val214=)
c.522A>G (p.Val174=)
2g.189565472T>GCA430502610SLC40A1c.642A>C (p.Val214=)
c.522A>C (p.Val174=)
2g.189565473A>CCA349988748SLC40A1c.641T>G (p.Val214Gly)
c.521T>G (p.Val174Gly)
2g.189565473A>GCA349988749SLC40A1c.641T>C (p.Val214Ala)
c.521T>C (p.Val174Ala)
2g.189565473A>TCA349988750SLC40A1c.641T>A (p.Val214Glu)
c.521T>A (p.Val174Glu)
2g.189565474C>ACA349988752SLC40A1c.640G>T (p.Val214Leu)
c.520G>T (p.Val174Leu)
2g.189565474C>GCA349988753SLC40A1c.640G>C (p.Val214Leu)
c.520G>C (p.Val174Leu)
2g.189565474C>TCA349988751SLC40A1c.640G>A (p.Val214Ile)
c.520G>A (p.Val174Ile)
2g.189565475delCA430502615SLC40A1c.640del (p.Val214TyrfsTer20)
c.520del (p.Val174TyrfsTer20)
2g.189565475C>ACA349988754SLC40A1c.639G>T (p.Leu213Phe)
c.519G>T (p.Leu173Phe)
2g.189565475C>GCA349988755SLC40A1c.639G>C (p.Leu213Phe)
c.519G>C (p.Leu173Phe)
 gnomAD v4
2g.189565475C>TCA430502617SLC40A1c.639G>A (p.Leu213=)
c.519G>A (p.Leu173=)
 dbSNP
2g.189565476A>CCA349988756SLC40A1c.638T>G (p.Leu213Trp)
c.518T>G (p.Leu173Trp)
2g.189565476A>GCA349988757SLC40A1c.638T>C (p.Leu213Ser)
c.518T>C (p.Leu173Ser)
2g.189565476A>TCA349988758SLC40A1c.638T>A (p.Leu213Ter)
c.518T>A (p.Leu173Ter)

Number of alleles fetched