Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.189565477A>CCA349988759SLC40A1c.637T>G (p.Leu213Val)
c.517T>G (p.Leu173Val)
2g.189565477A>GCA430502620SLC40A1c.637T>C (p.Leu213=)
c.517T>C (p.Leu173=)
2g.189565477A>TCA349988760SLC40A1c.637T>A (p.Leu213Met)
c.517T>A (p.Leu173Met)
2g.189565478G>ACA430502622SLC40A1c.636C>T (p.Asn212=)
c.516C>T (p.Asn172=)
2g.189565478G>CCA349988761SLC40A1c.636C>G (p.Asn212Lys)
c.516C>G (p.Asn172Lys)
2g.189565478G>TCA349988762SLC40A1c.636C>A (p.Asn212Lys)
c.516C>A (p.Asn172Lys)
2g.189565479T>ACA349988763SLC40A1c.635A>T (p.Asn212Ile)
c.515A>T (p.Asn172Ile)
2g.189565479T>CCA349988764SLC40A1c.635A>G (p.Asn212Ser)
c.515A>G (p.Asn172Ser)
2g.189565479T>GCA349988765SLC40A1c.635A>C (p.Asn212Thr)
c.515A>C (p.Asn172Thr)
2g.189565480T>ACA349988768SLC40A1c.634A>T (p.Asn212Tyr)
c.514A>T (p.Asn172Tyr)
2g.189565480T>CCA349988766SLC40A1c.634A>G (p.Asn212Asp)
c.514A>G (p.Asn172Asp)
2g.189565480T>GCA349988767SLC40A1c.634A>C (p.Asn212His)
c.514A>C (p.Asn172His)
2g.189565481C>ACA349988769SLC40A1c.633G>T (p.Trp211Cys)
c.513G>T (p.Trp171Cys)
2g.189565481C>GCA349988770SLC40A1c.633G>C (p.Trp211Cys)
c.513G>C (p.Trp171Cys)
2g.189565481C>TCA349988771SLC40A1c.633G>A (p.Trp211Ter)
c.513G>A (p.Trp171Ter)
 COSMIC
2g.189565482C>ACA349988772SLC40A1c.632G>T (p.Trp211Leu)
c.512G>T (p.Trp171Leu)
2g.189565482C=CA1315655856SLC40A1c.632G= (p.Trp211=)
c.512G= (p.Trp171=)
2g.189565482C>GCA349988773SLC40A1c.632G>C (p.Trp211Ser)
c.512G>C (p.Trp171Ser)
2g.189565482C>TCA349988774SLC40A1c.632G>A (p.Trp211Ter)
c.512G>A (p.Trp171Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.189565483A>CCA349988775SLC40A1c.631T>G (p.Trp211Gly)
c.511T>G (p.Trp171Gly)
2g.189565483A>GCA349988776SLC40A1c.631T>C (p.Trp211Arg)
c.511T>C (p.Trp171Arg)
2g.189565483A>TCA349988777SLC40A1c.631T>A (p.Trp211Arg)
c.511T>A (p.Trp171Arg)
2g.189565484T>ACA430502630SLC40A1c.630A>T (p.Gly210=)
c.510A>T (p.Gly170=)
2g.189565484T>CCA2024188SLC40A1c.630A>G (p.Gly210=)
c.510A>G (p.Gly170=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565484T>GCA430502631SLC40A1c.630A>C (p.Gly210=)
c.510A>C (p.Gly170=)
 COSMIC
2g.189565484T=CA1315655861SLC40A1c.630A= (p.Gly210=)
c.510A= (p.Gly170=)
2g.189565485C>ACA349988778SLC40A1c.629G>T (p.Gly210Val)
c.509G>T (p.Gly170Val)
2g.189565485C=CA1315655863SLC40A1c.629G= (p.Gly210=)
c.509G= (p.Gly170=)
2g.189565485C>GCA62903058SLC40A1c.629G>C (p.Gly210Ala)
c.509G>C (p.Gly170Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189565485C>TCA349988779SLC40A1c.629G>A (p.Gly210Glu)
c.509G>A (p.Gly170Glu)
2g.189565486C>ACA349988781SLC40A1c.628G>T (p.Gly210Ter)
c.508G>T (p.Gly170Ter)
2g.189565486C>GCA349988782SLC40A1c.628G>C (p.Gly210Arg)
c.508G>C (p.Gly170Arg)
2g.189565486C>TCA349988780SLC40A1c.628G>A (p.Gly210Arg)
c.508G>A (p.Gly170Arg)
 COSMIC
2g.189565487C>ACA430502635SLC40A1c.627G>T (p.Ser209=)
c.507G>T (p.Ser169=)
2g.189565487C=CA1315655865SLC40A1c.627G= (p.Ser209=)
c.507G= (p.Ser169=)
2g.189565487C>GCA430502636SLC40A1c.627G>C (p.Ser209=)
c.507G>C (p.Ser169=)
2g.189565487C>TCA62903059SLC40A1c.627G>A (p.Ser209=)
c.507G>A (p.Ser169=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565488G>ACA2024189SLC40A1c.626C>T (p.Ser209Leu)
c.506C>T (p.Ser169Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565488G>CCA349988783SLC40A1c.626C>G (p.Ser209Trp)
c.506C>G (p.Ser169Trp)
 gnomAD v4
2g.189565488G=CA1315655871SLC40A1c.626C= (p.Ser209=)
c.506C= (p.Ser169=)
2g.189565488G>TCA349988784SLC40A1c.626C>A (p.Ser209Ter)
c.506C>A (p.Ser169Ter)
2g.189565489A>CCA349988785SLC40A1c.625T>G (p.Ser209Ala)
c.505T>G (p.Ser169Ala)
2g.189565489A>GCA349988786SLC40A1c.625T>C (p.Ser209Pro)
c.505T>C (p.Ser169Pro)
2g.189565489A>TCA349988787SLC40A1c.625T>A (p.Ser209Thr)
c.505T>A (p.Ser169Thr)
2g.189565490A>CCA349988788SLC40A1c.624T>G (p.Ile208Met)
c.504T>G (p.Ile168Met)
2g.189565490A>GCA430502641SLC40A1c.624T>C (p.Ile208=)
c.504T>C (p.Ile168=)
 gnomAD v4
2g.189565490A>TCA430502643SLC40A1c.624T>A (p.Ile208=)
c.504T>A (p.Ile168=)
2g.189565491A>CCA349988791SLC40A1c.623T>G (p.Ile208Ser)
c.503T>G (p.Ile168Ser)
 gnomAD v4
2g.189565491A>GCA349988789SLC40A1c.623T>C (p.Ile208Thr)
c.503T>C (p.Ile168Thr)
2g.189565491A>TCA349988790SLC40A1c.623T>A (p.Ile208Asn)
c.503T>A (p.Ile168Asn)
2g.189565492T>ACA349988792SLC40A1c.622A>T (p.Ile208Phe)
c.502A>T (p.Ile168Phe)
2g.189565492T>CCA349988793SLC40A1c.622A>G (p.Ile208Val)
c.502A>G (p.Ile168Val)
2g.189565492T>GCA349988794SLC40A1c.622A>C (p.Ile208Leu)
c.502A>C (p.Ile168Leu)
2g.189565493A>CCA349988795SLC40A1c.621T>G (p.Phe207Leu)
c.501T>G (p.Phe167Leu)
2g.189565493A>GCA430502648SLC40A1c.621T>C (p.Phe207=)
c.501T>C (p.Phe167=)
2g.189565493A>TCA349988796SLC40A1c.621T>A (p.Phe207Leu)
c.501T>A (p.Phe167Leu)
2g.189565494A>CCA349988797SLC40A1c.620T>G (p.Phe207Cys)
c.500T>G (p.Phe167Cys)
2g.189565494A>GCA349988799SLC40A1c.620T>C (p.Phe207Ser)
c.500T>C (p.Phe167Ser)
2g.189565494A>TCA349988798SLC40A1c.620T>A (p.Phe207Tyr)
c.500T>A (p.Phe167Tyr)
2g.189565495A>CCA349988800SLC40A1c.619T>G (p.Phe207Val)
c.499T>G (p.Phe167Val)
2g.189565495A>GCA349988801SLC40A1c.619T>C (p.Phe207Leu)
c.499T>C (p.Phe167Leu)
2g.189565495A>TCA349988802SLC40A1c.619T>A (p.Phe207Ile)
c.499T>A (p.Phe167Ile)
2g.189565496G>ACA430502655SLC40A1c.618C>T (p.Gly206=)
c.498C>T (p.Gly166=)
2g.189565496G>CCA430502656SLC40A1c.618C>G (p.Gly206=)
c.498C>G (p.Gly166=)
2g.189565496G>TCA430502657SLC40A1c.618C>A (p.Gly206=)
c.498C>A (p.Gly166=)
2g.189565497C>ACA349988803SLC40A1c.617G>T (p.Gly206Val)
c.497G>T (p.Gly166Val)
2g.189565497C>GCA349988804SLC40A1c.617G>C (p.Gly206Ala)
c.497G>C (p.Gly166Ala)
2g.189565497C>TCA349988805SLC40A1c.617G>A (p.Gly206Asp)
c.497G>A (p.Gly166Asp)
2g.189565498C>ACA349988806SLC40A1c.616G>T (p.Gly206Cys)
c.496G>T (p.Gly166Cys)
2g.189565498C=CA1315655875SLC40A1c.616G= (p.Gly206=)
c.496G= (p.Gly166=)
2g.189565498C>GCA349988807SLC40A1c.616G>C (p.Gly206Arg)
c.496G>C (p.Gly166Arg)
 ClinVar dbSNP
2g.189565498C>TCA2024190SLC40A1c.616G>A (p.Gly206Ser)
c.496G>A (p.Gly166Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189565499A=CA1315655878SLC40A1c.615T= (p.Cys205=)
c.495T= (p.Cys165=)
2g.189565499A>CCA2024191SLC40A1c.615T>G (p.Cys205Trp)
c.495T>G (p.Cys165Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565499A>GCA430502662SLC40A1c.615T>C (p.Cys205=)
c.495T>C (p.Cys165=)
 gnomAD v4
2g.189565499A>TCA349988808SLC40A1c.615T>A (p.Cys205Ter)
c.495T>A (p.Cys165Ter)
2g.189565500C>ACA349988811SLC40A1c.614G>T (p.Cys205Phe)
c.494G>T (p.Cys165Phe)
2g.189565500C>GCA349988810SLC40A1c.614G>C (p.Cys205Ser)
c.494G>C (p.Cys165Ser)
2g.189565500C>TCA349988809SLC40A1c.614G>A (p.Cys205Tyr)
c.494G>A (p.Cys165Tyr)
2g.189565501A>CCA349988812SLC40A1c.613T>G (p.Cys205Gly)
c.493T>G (p.Cys165Gly)
2g.189565501A>GCA349988814SLC40A1c.613T>C (p.Cys205Arg)
c.493T>C (p.Cys165Arg)
2g.189565501A>TCA349988813SLC40A1c.613T>A (p.Cys205Ser)
c.493T>A (p.Cys165Ser)
2g.189565502G>ACA430502670SLC40A1c.612C>T (p.Gly204=)
c.492C>T (p.Gly164=)
2g.189565502G>CCA430502667SLC40A1c.612C>G (p.Gly204=)
c.492C>G (p.Gly164=)
2g.189565502G>TCA430502668SLC40A1c.612C>A (p.Gly204=)
c.492C>A (p.Gly164=)
2g.189565503C>ACA349988815SLC40A1c.611G>T (p.Gly204Val)
c.491G>T (p.Gly164Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189565503C=CA1315655881SLC40A1c.611G= (p.Gly204=)
c.491G= (p.Gly164=)
2g.189565503C>GCA349988816SLC40A1c.611G>C (p.Gly204Ala)
c.491G>C (p.Gly164Ala)
2g.189565503C>TCA349988817SLC40A1c.611G>A (p.Gly204Asp)
c.491G>A (p.Gly164Asp)
 ClinVar
2g.189565504C>ACA349988818SLC40A1c.610G>T (p.Gly204Cys)
c.490G>T (p.Gly164Cys)
2g.189565504C=CA1315655883SLC40A1c.610G= (p.Gly204=)
c.490G= (p.Gly164=)
2g.189565504C>GCA349988819SLC40A1c.610G>C (p.Gly204Arg)
c.490G>C (p.Gly164Arg)
2g.189565504C>TCA215966SLC40A1c.610G>A (p.Gly204Ser)
c.490G>A (p.Gly164Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565505G>ACA2024192SLC40A1c.609C>T (p.Ile203=)
c.489C>T (p.Ile163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565505G>CCA349988820SLC40A1c.609C>G (p.Ile203Met)
c.489C>G (p.Ile163Met)
2g.189565505G=CA1315655887SLC40A1c.609C= (p.Ile203=)
c.489C= (p.Ile163=)
2g.189565505G>TCA430502676SLC40A1c.609C>A (p.Ile203=)
c.489C>A (p.Ile163=)
2g.189565506A=CA1315655893SLC40A1c.608T= (p.Ile203=)
c.488T= (p.Ile163=)
2g.189565506A>CCA349988821SLC40A1c.608T>G (p.Ile203Ser)
c.488T>G (p.Ile163Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189565506A>GCA349988822SLC40A1c.608T>C (p.Ile203Thr)
c.488T>C (p.Ile163Thr)
2g.189565506A>TCA349988823SLC40A1c.608T>A (p.Ile203Asn)
c.488T>A (p.Ile163Asn)
2g.189565507T>ACA349988825SLC40A1c.607A>T (p.Ile203Phe)
c.487A>T (p.Ile163Phe)
2g.189565507T>CCA2024193SLC40A1c.607A>G (p.Ile203Val)
c.487A>G (p.Ile163Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565507T>GCA349988824SLC40A1c.607A>C (p.Ile203Leu)
c.487A>C (p.Ile163Leu)
2g.189565507T=CA1315655897SLC40A1c.607A= (p.Ile203=)
c.487A= (p.Ile163=)
2g.189565508G>ACA430502681SLC40A1c.606C>T (p.Val202=)
c.486C>T (p.Val162=)
 COSMIC
2g.189565508G>CCA430502680SLC40A1c.606C>G (p.Val202=)
c.486C>G (p.Val162=)
2g.189565508G>TCA430502682SLC40A1c.606C>A (p.Val202=)
c.486C>A (p.Val162=)
 gnomAD v4 COSMIC
2g.189565509A=CA1315655899SLC40A1c.605T= (p.Val202=)
c.485T= (p.Val162=)
2g.189565509A>CCA349988826SLC40A1c.605T>G (p.Val202Gly)
c.485T>G (p.Val162Gly)
2g.189565509A>GCA349988827SLC40A1c.605T>C (p.Val202Ala)
c.485T>C (p.Val162Ala)
 dbSNP
2g.189565509A>TCA349988828SLC40A1c.605T>A (p.Val202Asp)
c.485T>A (p.Val162Asp)
2g.189565510C>ACA349988829SLC40A1c.604G>T (p.Val202Phe)
c.484G>T (p.Val162Phe)
2g.189565510C=CA1315655901SLC40A1c.604G= (p.Val202=)
c.484G= (p.Val162=)
2g.189565510C>GCA349988830SLC40A1c.604G>C (p.Val202Leu)
c.484G>C (p.Val162Leu)
 dbSNP
2g.189565510C>TCA349988831SLC40A1c.604G>A (p.Val202Ile)
c.484G>A (p.Val162Ile)
 dbSNP
2g.189565511T>ACA430502686SLC40A1c.603A>T (p.Pro201=)
c.483A>T (p.Pro161=)
2g.189565511T>CCA430502687SLC40A1c.603A>G (p.Pro201=)
c.483A>G (p.Pro161=)
2g.189565511T>GCA2024194SLC40A1c.603A>C (p.Pro201=)
c.483A>C (p.Pro161=)
 dbSNP ExAC
2g.189565511T=CA1315655907SLC40A1c.603A= (p.Pro201=)
c.483A= (p.Pro161=)
2g.189565512G>ACA349988832SLC40A1c.602C>T (p.Pro201Leu)
c.482C>T (p.Pro161Leu)
 gnomAD v4
2g.189565512G>CCA349988833SLC40A1c.602C>G (p.Pro201Arg)
c.482C>G (p.Pro161Arg)
2g.189565512G>TCA349988834SLC40A1c.602C>A (p.Pro201Gln)
c.482C>A (p.Pro161Gln)
2g.189565513G>ACA349988835SLC40A1c.601C>T (p.Pro201Ser)
c.601C>T
c.481C>T (p.Pro161Ser)
2g.189565513G>CCA349988836SLC40A1c.601C>G (p.Pro201Ala)
c.601C>G
c.481C>G (p.Pro161Ala)
2g.189565513G>TCA349988837SLC40A1c.601C>A (p.Pro201Thr)
c.601C>A
c.481C>A (p.Pro161Thr)
2g.189565514G>ACA430502692SLC40A1c.600C>T (p.Ser200=)
c.480C>T (p.Ser160=)
2g.189565514G>CCA430502691SLC40A1c.600C>G (p.Ser200=)
c.480C>G (p.Ser160=)
2g.189565514G>TCA430502690SLC40A1c.600C>A (p.Ser200=)
c.480C>A (p.Ser160=)
2g.189565515G>ACA349988839SLC40A1c.599C>T (p.Ser200Phe)
c.479C>T (p.Ser160Phe)
 dbSNP
2g.189565515G>CCA349988840SLC40A1c.599C>G (p.Ser200Cys)
c.479C>G (p.Ser160Cys)
2g.189565515G=CA1315655910SLC40A1c.599C= (p.Ser200=)
c.479C= (p.Ser160=)
2g.189565515G>TCA349988838SLC40A1c.599C>A (p.Ser200Tyr)
c.479C>A (p.Ser160Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.189565516A>CCA349988841SLC40A1c.598T>G (p.Ser200Ala)
c.478T>G (p.Ser160Ala)
2g.189565516A>GCA349988843SLC40A1c.598T>C (p.Ser200Pro)
c.478T>C (p.Ser160Pro)
2g.189565516A>TCA349988842SLC40A1c.598T>A (p.Ser200Thr)
c.478T>A (p.Ser160Thr)
2g.189565517G>ACA430502697SLC40A1c.597C>T (p.Gly199=)
c.477C>T (p.Gly159=)
2g.189565517G>CCA430502699SLC40A1c.597C>G (p.Gly199=)
c.477C>G (p.Gly159=)
2g.189565517G>TCA430502698SLC40A1c.597C>A (p.Gly199=)
c.477C>A (p.Gly159=)
2g.189565518C>ACA349988844SLC40A1c.596G>T (p.Gly199Val)
c.476G>T (p.Gly159Val)
2g.189565518C>GCA349988846SLC40A1c.596G>C (p.Gly199Ala)
c.476G>C (p.Gly159Ala)
 gnomAD v4
2g.189565518C>TCA349988845SLC40A1c.596G>A (p.Gly199Asp)
c.476G>A (p.Gly159Asp)
2g.189565519C>ACA349988847SLC40A1c.595G>T (p.Gly199Cys)
c.475G>T (p.Gly159Cys)
2g.189565519C=CA1315655913SLC40A1c.595G= (p.Gly199=)
c.475G= (p.Gly159=)
2g.189565519C>GCA349988849SLC40A1c.595G>C (p.Gly199Arg)
c.475G>C (p.Gly159Arg)
2g.189565519C>TCA349988848SLC40A1c.595G>A (p.Gly199Ser)
c.475G>A (p.Gly159Ser)
 dbSNP
2g.189565520A>CCA349988850SLC40A1c.594T>G (p.Phe198Leu)
c.474T>G (p.Phe158Leu)
2g.189565520A>GCA430502701SLC40A1c.594T>C (p.Phe198=)
c.474T>C (p.Phe158=)
2g.189565520A>TCA349988851SLC40A1c.594T>A (p.Phe198Leu)
c.474T>A (p.Phe158Leu)
2g.189565521A>CCA349988852SLC40A1c.593T>G (p.Phe198Cys)
c.473T>G (p.Phe158Cys)
 COSMIC
2g.189565521A>GCA349988853SLC40A1c.593T>C (p.Phe198Ser)
c.473T>C (p.Phe158Ser)
2g.189565521A>TCA349988854SLC40A1c.593T>A (p.Phe198Tyr)
c.473T>A (p.Phe158Tyr)
2g.189565522A=CA1315655916SLC40A1c.592T= (p.Phe198=)
c.472T= (p.Phe158=)
2g.189565522A>CCA349988855SLC40A1c.592T>G (p.Phe198Val)
c.472T>G (p.Phe158Val)
 dbSNP
2g.189565522A>GCA349988856SLC40A1c.592T>C (p.Phe198Leu)
c.472T>C (p.Phe158Leu)
2g.189565522A>TCA349988857SLC40A1c.592T>A (p.Phe198Ile)
c.472T>A (p.Phe158Ile)
2g.189565523T>ACA430502708SLC40A1c.591A>T (p.Thr197=)
c.471A>T (p.Thr157=)
2g.189565523T>CCA430502711SLC40A1c.591A>G (p.Thr197=)
c.471A>G (p.Thr157=)
 dbSNP
2g.189565523T>GCA430502712SLC40A1c.591A>C (p.Thr197=)
c.471A>C (p.Thr157=)
2g.189565523T=CA1315655918SLC40A1c.591A= (p.Thr197=)
c.471A= (p.Thr157=)
2g.189565524G>ACA349988858SLC40A1c.590C>T (p.Thr197Ile)
c.470C>T (p.Thr157Ile)
2g.189565524G>CCA349988859SLC40A1c.590C>G (p.Thr197Arg)
c.470C>G (p.Thr157Arg)
2g.189565524G>TCA349988860SLC40A1c.590C>A (p.Thr197Lys)
c.470C>A (p.Thr157Lys)
2g.189565525T>ACA349988863SLC40A1c.589A>T (p.Thr197Ser)
c.469A>T (p.Thr157Ser)
 ClinVar
2g.189565525T>CCA349988862SLC40A1c.589A>G (p.Thr197Ala)
c.469A>G (p.Thr157Ala)
 gnomAD v4
2g.189565525T>GCA349988861SLC40A1c.589A>C (p.Thr197Pro)
c.469A>C (p.Thr157Pro)
2g.189565526C>ACA349988864SLC40A1c.588G>T (p.Met196Ile)
c.468G>T (p.Met156Ile)
2g.189565526C=CA1315655920SLC40A1c.588G= (p.Met196=)
c.468G= (p.Met156=)
2g.189565526C>GCA349988865SLC40A1c.588G>C (p.Met196Ile)
c.468G>C (p.Met156Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.189565526C>TCA349988866SLC40A1c.588G>A (p.Met196Ile)
c.468G>A (p.Met156Ile)
2g.189565527A>CCA349988867SLC40A1c.587T>G (p.Met196Arg)
c.467T>G (p.Met156Arg)
2g.189565527A>GCA349988868SLC40A1c.587T>C (p.Met196Thr)
c.467T>C (p.Met156Thr)
2g.189565527A>TCA349988869SLC40A1c.587T>A (p.Met196Lys)
c.467T>A (p.Met156Lys)
2g.189565528T>ACA349988870SLC40A1c.586A>T (p.Met196Leu)
c.466A>T (p.Met156Leu)
2g.189565528T>CCA349988871SLC40A1c.586A>G (p.Met196Val)
c.466A>G (p.Met156Val)
2g.189565528T>GCA349988872SLC40A1c.586A>C (p.Met196Leu)
c.466A>C (p.Met156Leu)
2g.189565529A=CA1315645017SLC40A1c.585T= (p.Ile195=)
c.465T= (p.Ile155=)
2g.189565529A>CCA349988873SLC40A1c.585T>G (p.Ile195Met)
c.465T>G (p.Ile155Met)
 gnomAD v4
2g.189565529A>GCA2024195SLC40A1c.585T>C (p.Ile195=)
c.465T>C (p.Ile155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189565529A>TCA430502729SLC40A1c.585T>A (p.Ile195=)
c.465T>A (p.Ile155=)
2g.189565530A>CCA349988876SLC40A1c.584T>G (p.Ile195Ser)
c.464T>G (p.Ile155Ser)
2g.189565530A>GCA349988875SLC40A1c.584T>C (p.Ile195Thr)
c.464T>C (p.Ile155Thr)
2g.189565530A>TCA349988874SLC40A1c.584T>A (p.Ile195Asn)
c.464T>A (p.Ile155Asn)
2g.189565531T>ACA349988877SLC40A1c.583A>T (p.Ile195Phe)
c.463A>T (p.Ile155Phe)
2g.189565531T>CCA349988878SLC40A1c.583A>G (p.Ile195Val)
c.463A>G (p.Ile155Val)
2g.189565531T>GCA349988879SLC40A1c.583A>C (p.Ile195Leu)
c.463A>C (p.Ile155Leu)
2g.189565532C>ACA349988880SLC40A1c.582G>T (p.Gln194His)
c.462G>T (p.Gln154His)
2g.189565532C=CA1315645019SLC40A1c.582G= (p.Gln194=)
c.462G= (p.Gln154=)
2g.189565532C>GCA2024196SLC40A1c.582G>C (p.Gln194His)
c.462G>C (p.Gln154His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189565532C>TCA430502735SLC40A1c.582G>A (p.Gln194=)
c.462G>A (p.Gln154=)
2g.189565533T>ACA349988881SLC40A1c.581A>T (p.Gln194Leu)
c.461A>T (p.Gln154Leu)
2g.189565533T>CCA349988882SLC40A1c.581A>G (p.Gln194Arg)
c.461A>G (p.Gln154Arg)
2g.189565533T>GCA349988883SLC40A1c.581A>C (p.Gln194Pro)
c.461A>C (p.Gln154Pro)
2g.189565534G>ACA349988884SLC40A1c.580C>T (p.Gln194Ter)
c.460C>T (p.Gln154Ter)
2g.189565534G>CCA349988885SLC40A1c.580C>G (p.Gln194Glu)
c.460C>G (p.Gln154Glu)
2g.189565534G>TCA349988886SLC40A1c.580C>A (p.Gln194Lys)
c.460C>A (p.Gln154Lys)
2g.189565535G>ACA430502742SLC40A1c.579C>T (p.Gly193=)
c.459C>T (p.Gly153=)
 dbSNP gnomAD v2 gnomAD v4
2g.189565535G>CCA430502744SLC40A1c.579C>G (p.Gly193=)
c.459C>G (p.Gly153=)
2g.189565535G=CA1315645021SLC40A1c.579C= (p.Gly193=)
c.459C= (p.Gly153=)
2g.189565535G>TCA430502745SLC40A1c.579C>A (p.Gly193=)
c.459C>A (p.Gly153=)
2g.189565536C>ACA349988889SLC40A1c.578G>T (p.Gly193Val)
c.458G>T (p.Gly153Val)
2g.189565536C>GCA349988888SLC40A1c.578G>C (p.Gly193Ala)
c.458G>C (p.Gly153Ala)
2g.189565536C>TCA349988887SLC40A1c.578G>A (p.Gly193Asp)
c.458G>A (p.Gly153Asp)
2g.189565537C>ACA349988890SLC40A1c.577G>T (p.Gly193Cys)
c.457G>T (p.Gly153Cys)
 COSMIC
2g.189565537C>GCA349988891SLC40A1c.577G>C (p.Gly193Arg)
c.457G>C (p.Gly153Arg)
2g.189565537C>TCA349988892SLC40A1c.577G>A (p.Gly193Ser)
c.457G>A (p.Gly153Ser)
2g.189565538A>CCA430502756SLC40A1c.576T>G (p.Val192=)
c.456T>G (p.Val152=)
2g.189565538A>GCA430502763SLC40A1c.576T>C (p.Val192=)
c.456T>C (p.Val152=)
2g.189565538A>TCA430502762SLC40A1c.576T>A (p.Val192=)
c.456T>A (p.Val152=)
2g.189565539A>CCA349988893SLC40A1c.575T>G (p.Val192Gly)
c.455T>G (p.Val152Gly)
2g.189565539A>GCA349988894SLC40A1c.575T>C (p.Val192Ala)
c.455T>C (p.Val152Ala)
2g.189565539A>TCA349988895SLC40A1c.575T>A (p.Val192Asp)
c.455T>A (p.Val152Asp)
2g.189565540C>ACA349988896SLC40A1c.574G>T (p.Val192Phe)
c.454G>T (p.Val152Phe)
2g.189565540C=CA1315645023SLC40A1c.574G= (p.Val192=)
c.454G= (p.Val152=)
2g.189565540C>GCA349988897SLC40A1c.574G>C (p.Val192Leu)
c.454G>C (p.Val152Leu)
 dbSNP
2g.189565540C>TCA349988898SLC40A1c.574G>A (p.Val192Ile)
c.454G>A (p.Val152Ile)
 gnomAD v4

Number of alleles fetched