Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.189565541A>CCA430502766SLC40A1c.573T>G (p.Ala191=)
c.453T>G (p.Ala151=)
2g.189565541A>GCA430502768SLC40A1c.573T>C (p.Ala191=)
c.453T>C (p.Ala151=)
2g.189565541A>TCA430502770SLC40A1c.573T>A (p.Ala191=)
c.453T>A (p.Ala151=)
2g.189565542G>ACA349988899SLC40A1c.572C>T (p.Ala191Val)
c.452C>T (p.Ala151Val)
2g.189565542G>CCA349988900SLC40A1c.572C>G (p.Ala191Gly)
c.452C>G (p.Ala151Gly)
2g.189565542G>TCA349988901SLC40A1c.572C>A (p.Ala191Asp)
c.452C>A (p.Ala151Asp)
2g.189565543C>ACA349988904SLC40A1c.571G>T (p.Ala191Ser)
c.451G>T (p.Ala151Ser)
2g.189565543C=CA1315645025SLC40A1c.571G= (p.Ala191=)
c.451G= (p.Ala151=)
2g.189565543C>GCA349988903SLC40A1c.571G>C (p.Ala191Pro)
c.451G>C (p.Ala151Pro)
2g.189565543C>TCA349988902SLC40A1c.571G>A (p.Ala191Thr)
c.451G>A (p.Ala151Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.189565544C>ACA349988905SLC40A1c.570G>T (p.Met190Ile)
c.450G>T (p.Met150Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.189565544C=CA1315645028SLC40A1c.570G= (p.Met190=)
c.450G= (p.Met150=)
2g.189565544C>GCA349988906SLC40A1c.570G>C (p.Met190Ile)
c.450G>C (p.Met150Ile)
2g.189565544C>TCA349988907SLC40A1c.570G>A (p.Met190Ile)
c.450G>A (p.Met150Ile)
2g.189565545A=CA1315645030SLC40A1c.569T= (p.Met190=)
c.449T= (p.Met150=)
2g.189565545A>CCA349988908SLC40A1c.569T>G (p.Met190Arg)
c.449T>G (p.Met150Arg)
2g.189565545A>GCA349988909SLC40A1c.569T>C (p.Met190Thr)
c.449T>C (p.Met150Thr)
 dbSNP gnomAD v4
2g.189565545A>TCA349988910SLC40A1c.569T>A (p.Met190Lys)
c.449T>A (p.Met150Lys)
2g.189565546T>ACA349988911SLC40A1c.568A>T (p.Met190Leu)
c.448A>T (p.Met150Leu)
2g.189565546T>CCA349988912SLC40A1c.568A>G (p.Met190Val)
c.448A>G (p.Met150Val)
 dbSNP gnomAD v3 gnomAD v4
2g.189565546T>GCA349988913SLC40A1c.568A>C (p.Met190Leu)
c.448A>C (p.Met150Leu)
2g.189565546T=CA1315645032SLC40A1c.568A= (p.Met190=)
c.448A= (p.Met150=)
2g.189565547G>ACA62903060SLC40A1c.567C>T (p.Pro189=)
c.447C>T (p.Pro149=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565547G>CCA430502781SLC40A1c.567C>G (p.Pro189=)
c.447C>G (p.Pro149=)
2g.189565547G=CA1315645034SLC40A1c.567C= (p.Pro189=)
c.447C= (p.Pro149=)
2g.189565547G>TCA430502782SLC40A1c.567C>A (p.Pro189=)
c.447C>A (p.Pro149=)
2g.189565548G>ACA349988914SLC40A1c.566C>T (p.Pro189Leu)
c.446C>T (p.Pro149Leu)
 COSMIC
2g.189565548G>CCA349988915SLC40A1c.566C>G (p.Pro189Arg)
c.446C>G (p.Pro149Arg)
2g.189565548G>TCA349988916SLC40A1c.566C>A (p.Pro189His)
c.446C>A (p.Pro149His)
2g.189565549G>ACA349988919SLC40A1c.565C>T (p.Pro189Ser)
c.445C>T (p.Pro149Ser)
2g.189565549G>CCA349988918SLC40A1c.565C>G (p.Pro189Ala)
c.445C>G (p.Pro149Ala)
2g.189565549G>TCA349988917SLC40A1c.565C>A (p.Pro189Thr)
c.445C>A (p.Pro149Thr)
2g.189565550G>ACA430502787SLC40A1c.564C>T (p.Ala188=)
c.444C>T (p.Ala148=)
 ClinVar gnomAD v4 COSMIC
2g.189565550G>CCA430502789SLC40A1c.564C>G (p.Ala188=)
c.444C>G (p.Ala148=)
2g.189565550G>TCA430502791SLC40A1c.564C>A (p.Ala188=)
c.444C>A (p.Ala148=)
2g.189565551G>ACA349988920SLC40A1c.563C>T (p.Ala188Val)
c.443C>T (p.Ala148Val)
 gnomAD v4
2g.189565551G>CCA349988921SLC40A1c.563C>G (p.Ala188Gly)
c.443C>G (p.Ala148Gly)
2g.189565551G>TCA349988922SLC40A1c.563C>A (p.Ala188Asp)
c.443C>A (p.Ala148Asp)
2g.189565552C>ACA349988923SLC40A1c.562G>T (p.Ala188Ser)
c.442G>T (p.Ala148Ser)
2g.189565552C>GCA349988924SLC40A1c.562G>C (p.Ala188Pro)
c.442G>C (p.Ala148Pro)
2g.189565552C>TCA349988925SLC40A1c.562G>A (p.Ala188Thr)
c.442G>A (p.Ala148Thr)
 ClinVar gnomAD v4
2g.189565553T>ACA349988926SLC40A1c.561A>T (p.Leu187Phe)
c.441A>T (p.Leu147Phe)
2g.189565553T>CCA430502793SLC40A1c.561A>G (p.Leu187=)
c.441A>G (p.Leu147=)
2g.189565553T>GCA349988927SLC40A1c.561A>C (p.Leu187Phe)
c.441A>C (p.Leu147Phe)
2g.189565554A=CA1315645036SLC40A1c.560T= (p.Leu187=)
c.440T= (p.Leu147=)
2g.189565554A>CCA349988928SLC40A1c.560T>G (p.Leu187Ter)
c.440T>G (p.Leu147Ter)
2g.189565554A>GCA349988929SLC40A1c.560T>C (p.Leu187Ser)
c.440T>C (p.Leu147Ser)
2g.189565554A>TCA62903061SLC40A1c.560T>A (p.Leu187Ter)
c.440T>A (p.Leu147Ter)
 dbSNP
2g.189565555A>CCA349988930SLC40A1c.559T>G (p.Leu187Val)
c.439T>G (p.Leu147Val)
2g.189565555A>GCA430502799SLC40A1c.559T>C (p.Leu187=)
c.439T>C (p.Leu147=)
2g.189565555A>TCA349988931SLC40A1c.559T>A (p.Leu187Ile)
c.439T>A (p.Leu147Ile)
2g.189565556G>ACA430502802SLC40A1c.558C>T (p.Ile186=)
c.438C>T (p.Ile146=)
2g.189565556G>CCA349988932SLC40A1c.558C>G (p.Ile186Met)
c.438C>G (p.Ile146Met)
2g.189565556G>TCA430502803SLC40A1c.558C>A (p.Ile186=)
c.438C>A (p.Ile146=)
2g.189565557A>CCA349988934SLC40A1c.557T>G (p.Ile186Ser)
c.437T>G (p.Ile146Ser)
2g.189565557A>GCA349988935SLC40A1c.557T>C (p.Ile186Thr)
c.437T>C (p.Ile146Thr)
 gnomAD v4
2g.189565557A>TCA349988933SLC40A1c.557T>A (p.Ile186Asn)
c.437T>A (p.Ile146Asn)
2g.189565558T>ACA349988936SLC40A1c.556A>T (p.Ile186Phe)
c.436A>T (p.Ile146Phe)
2g.189565558T>CCA349988937SLC40A1c.556A>G (p.Ile186Val)
c.436A>G (p.Ile146Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189565558T>GCA349988938SLC40A1c.556A>C (p.Ile186Leu)
c.436A>C (p.Ile146Leu)
2g.189565558T=CA1315645040SLC40A1c.556A= (p.Ile186=)
c.436A= (p.Ile146=)
2g.189565559G>ACA430502806SLC40A1c.555C>T (p.Asn185=)
c.435C>T (p.Asn145=)
 dbSNP gnomAD v2 gnomAD v4
2g.189565559G>CCA349988939SLC40A1c.555C>G (p.Asn185Lys)
c.435C>G (p.Asn145Lys)
2g.189565559G=CA1315645044SLC40A1c.555C= (p.Asn185=)
c.435C= (p.Asn145=)
2g.189565559G>TCA349988940SLC40A1c.555C>A (p.Asn185Lys)
c.435C>A (p.Asn145Lys)
2g.189565560T>ACA349988941SLC40A1c.554A>T (p.Asn185Ile)
c.434A>T (p.Asn145Ile)
2g.189565560T>CCA349988942SLC40A1c.554A>G (p.Asn185Ser)
c.434A>G (p.Asn145Ser)
 gnomAD v4
2g.189565560T>GCA349988943SLC40A1c.554A>C (p.Asn185Thr)
c.434A>C (p.Asn145Thr)
 ClinVar dbSNP
2g.189565561T>ACA349988944SLC40A1c.553A>T (p.Asn185Tyr)
c.433A>T (p.Asn145Tyr)
2g.189565561T>CCA215963SLC40A1c.553A>G (p.Asn185Asp)
c.433A>G (p.Asn145Asp)
 ClinVar dbSNP
2g.189565561T>GCA349988945SLC40A1c.553A>C (p.Asn185His)
c.433A>C (p.Asn145His)
2g.189565561T=CA1315645049SLC40A1c.553A= (p.Asn185=)
c.433A= (p.Asn145=)
2g.189565562G>ACA430502818SLC40A1c.552C>T (p.Thr184=)
c.432C>T (p.Thr144=)
 COSMIC
2g.189565562G>CCA430502819SLC40A1c.552C>G (p.Thr184=)
c.432C>G (p.Thr144=)
 dbSNP gnomAD v3 gnomAD v4
2g.189565562G=CA1315645053SLC40A1c.552C= (p.Thr184=)
c.432C= (p.Thr144=)
2g.189565562G>TCA430502820SLC40A1c.552C>A (p.Thr184=)
c.432C>A (p.Thr144=)
 dbSNP gnomAD v2 gnomAD v4
2g.189565563G>ACA349988948SLC40A1c.551C>T (p.Thr184Ile)
c.431C>T (p.Thr144Ile)
2g.189565563G>CCA349988947SLC40A1c.551C>G (p.Thr184Ser)
c.431C>G (p.Thr144Ser)
2g.189565563G>TCA349988946SLC40A1c.551C>A (p.Thr184Asn)
c.431C>A (p.Thr144Asn)
2g.189565564T>ACA349988949SLC40A1c.550A>T (p.Thr184Ser)
c.430A>T (p.Thr144Ser)
2g.189565564T>CCA349988950SLC40A1c.550A>G (p.Thr184Ala)
c.430A>G (p.Thr144Ala)
2g.189565564T>GCA349988951SLC40A1c.550A>C (p.Thr184Pro)
c.430A>C (p.Thr144Pro)
2g.189565565T>ACA349988952SLC40A1c.549A>T (p.Leu183Phe)
c.429A>T (p.Leu143Phe)
2g.189565565T>CCA430502829SLC40A1c.549A>G (p.Leu183=)
c.429A>G (p.Leu143=)
 gnomAD v4
2g.189565565T>GCA349988953SLC40A1c.549A>C (p.Leu183Phe)
c.429A>C (p.Leu143Phe)
 gnomAD v4
2g.189565566A>CCA349988954SLC40A1c.548T>G (p.Leu183Ter)
c.428T>G (p.Leu143Ter)
2g.189565566A>GCA349988955SLC40A1c.548T>C (p.Leu183Ser)
c.428T>C (p.Leu143Ser)
2g.189565566A>TCA349988956SLC40A1c.548T>A (p.Leu183Ter)
c.428T>A (p.Leu143Ter)
2g.189565567A>CCA349988957SLC40A1c.547T>G (p.Leu183Val)
c.427T>G (p.Leu143Val)
2g.189565567A>GCA430502842SLC40A1c.547T>C (p.Leu183=)
c.427T>C (p.Leu143=)
2g.189565567A>TCA349988958SLC40A1c.547T>A (p.Leu183Ile)
c.427T>A (p.Leu143Ile)
2g.189565568C>ACA117521SLC40A1c.546G>T (p.Gln182His)
c.426G>T (p.Gln142His)
 ClinVar dbSNP
2g.189565568C=CA1315645059SLC40A1c.546G= (p.Gln182=)
c.426G= (p.Gln142=)
2g.189565568C>GCA349988959SLC40A1c.546G>C (p.Gln182His)
c.426G>C (p.Gln142His)
2g.189565568C>TCA430502844SLC40A1c.546G>A (p.Gln182=)
c.426G>A (p.Gln142=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565569T>ACA349988962SLC40A1c.545A>T (p.Gln182Leu)
c.425A>T (p.Gln142Leu)
2g.189565569T>CCA349988961SLC40A1c.545A>G (p.Gln182Arg)
c.425A>G (p.Gln142Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.189565569T>GCA349988960SLC40A1c.545A>C (p.Gln182Pro)
c.425A>C (p.Gln142Pro)
2g.189565569T=CA1315645071SLC40A1c.545A= (p.Gln182=)
c.425A= (p.Gln142=)
2g.189565570G>ACA349988963SLC40A1c.544C>T (p.Gln182Ter)
c.424C>T (p.Gln142Ter)
2g.189565570G>CCA349988964SLC40A1c.544C>G (p.Gln182Glu)
c.424C>G (p.Gln142Glu)
 ClinVar dbSNP
2g.189565570G=CA1315645075SLC40A1c.544C= (p.Gln182=)
c.424C= (p.Gln142=)
2g.189565570G>TCA349988965SLC40A1c.544C>A (p.Gln182Lys)
c.424C>A (p.Gln142Lys)
2g.189565571G>ACA430502801SLC40A1c.543C>T (p.Asp181=)
c.423C>T (p.Asp141=)
 gnomAD v4
2g.189565571G>CCA349988966SLC40A1c.543C>G (p.Asp181Glu)
c.423C>G (p.Asp141Glu)
2g.189565571G>TCA349988967SLC40A1c.543C>A (p.Asp181Glu)
c.423C>A (p.Asp141Glu)
2g.189565572T>ACA117525SLC40A1c.542A>T (p.Asp181Val)
c.422A>T (p.Asp141Val)
 ClinVar dbSNP gnomAD v4
2g.189565572T>CCA349988968SLC40A1c.542A>G (p.Asp181Gly)
c.422A>G (p.Asp141Gly)
2g.189565572T>GCA349988969SLC40A1c.542A>C (p.Asp181Ala)
c.422A>C (p.Asp141Ala)
2g.189565572T=CA1315645080SLC40A1c.542A= (p.Asp181=)
c.422A= (p.Asp141=)
2g.189565573C>ACA349988970SLC40A1c.541G>T (p.Asp181Tyr)
c.421G>T (p.Asp141Tyr)
2g.189565573C=CA1315645087SLC40A1c.541G= (p.Asp181=)
c.421G= (p.Asp141=)
2g.189565573C>GCA349988972SLC40A1c.541G>C (p.Asp181His)
c.421G>C (p.Asp141His)
2g.189565573C>TCA349988971SLC40A1c.541G>A (p.Asp181Asn)
c.421G>A (p.Asp141Asn)
 ClinVar dbSNP
2g.189565574A>CCA349988973SLC40A1c.540T>G (p.Ile180Met)
c.420T>G (p.Ile140Met)
2g.189565574A>GCA430502810SLC40A1c.540T>C (p.Ile180=)
c.420T>C (p.Ile140=)
2g.189565574A>TCA430502812SLC40A1c.540T>A (p.Ile180=)
c.420T>A (p.Ile140=)
2g.189565575A=CA1315645090SLC40A1c.539T= (p.Ile180=)
c.419T= (p.Ile140=)
2g.189565575A>CCA349988974SLC40A1c.539T>G (p.Ile180Ser)
c.419T>G (p.Ile140Ser)
2g.189565575A>GCA2024197SLC40A1c.539T>C (p.Ile180Thr)
c.419T>C (p.Ile140Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565575A>TCA349988975SLC40A1c.539T>A (p.Ile180Asn)
c.419T>A (p.Ile140Asn)
2g.189565576T>ACA349988978SLC40A1c.538A>T (p.Ile180Phe)
c.418A>T (p.Ile140Phe)
 gnomAD v4
2g.189565576T>CCA349988976SLC40A1c.538A>G (p.Ile180Val)
c.418A>G (p.Ile140Val)
2g.189565576T>GCA349988977SLC40A1c.538A>C (p.Ile180Leu)
c.418A>C (p.Ile140Leu)
2g.189565577C>ACA349988979SLC40A1c.537G>T (p.Arg179Ser)
c.417G>T (p.Arg139Ser)
2g.189565577C>GCA349988980SLC40A1c.537G>C (p.Arg179Ser)
c.417G>C (p.Arg139Ser)
2g.189565577C>TCA430502821SLC40A1c.537G>A (p.Arg179=)
c.417G>A (p.Arg139=)
 gnomAD v4
2g.189565578C>ACA349988981SLC40A1c.536G>T (p.Arg179Met)
c.416G>T (p.Arg139Met)
2g.189565578C=CA1315645096SLC40A1c.536G= (p.Arg179=)
c.416G= (p.Arg139=)
2g.189565578C>GCA2024198SLC40A1c.536G>C (p.Arg179Thr)
c.416G>C (p.Arg139Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565578C>TCA349988982SLC40A1c.536G>A (p.Arg179Lys)
c.416G>A (p.Arg139Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.189565579T>ACA349988983SLC40A1c.535A>T (p.Arg179Trp)
c.415A>T (p.Arg139Trp)
2g.189565579T>CCA349988984SLC40A1c.535A>G (p.Arg179Gly)
c.415A>G (p.Arg139Gly)
2g.189565579T>GCA430502828SLC40A1c.535A>C (p.Arg179=)
c.415A>C (p.Arg139=)
2g.189565580T>ACA430502831SLC40A1c.534A>T (p.Arg178=)
c.414A>T (p.Arg138=)
2g.189565580T>CCA430502833SLC40A1c.534A>G (p.Arg178=)
c.414A>G (p.Arg138=)
2g.189565580T>GCA430502836SLC40A1c.534A>C (p.Arg178=)
c.414A>C (p.Arg138=)
2g.189565581C>ACA349988985SLC40A1c.533G>T (p.Arg178Leu)
c.413G>T (p.Arg138Leu)
2g.189565581C=CA1315645101SLC40A1c.533G= (p.Arg178=)
c.413G= (p.Arg138=)
2g.189565581C>GCA349988986SLC40A1c.533G>C (p.Arg178Pro)
c.413G>C (p.Arg138Pro)
2g.189565581C>TCA349988987SLC40A1c.533G>A (p.Arg178Gln)
c.413G>A (p.Arg138Gln)
 ClinVar dbSNP
2g.189565582G>ACA62903062SLC40A1c.532C>T (p.Arg178Ter)
c.412C>T (p.Arg138Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189565582G>CCA349988988SLC40A1c.532C>G (p.Arg178Gly)
c.412C>G (p.Arg138Gly)
 ClinVar dbSNP
2g.189565582G=CA1315645107SLC40A1c.532C= (p.Arg178=)
c.412C= (p.Arg138=)
2g.189565582G>TCA430502843SLC40A1c.532C>A (p.Arg178=)
c.412C>A (p.Arg138=)
 dbSNP gnomAD v3 gnomAD v4
2g.189565583T>ACA430502845SLC40A1c.531A>T (p.Ile177=)
c.411A>T (p.Ile137=)
2g.189565583T>CCA349988989SLC40A1c.531A>G (p.Ile177Met)
c.411A>G (p.Ile137Met)
 COSMIC
2g.189565583T>GCA430502846SLC40A1c.531A>C (p.Ile177=)
c.411A>C (p.Ile137=)
2g.189565584A>CCA349988990SLC40A1c.530T>G (p.Ile177Arg)
c.410T>G (p.Ile137Arg)
2g.189565584A>GCA349988992SLC40A1c.530T>C (p.Ile177Thr)
c.410T>C (p.Ile137Thr)
2g.189565584A>TCA349988991SLC40A1c.530T>A (p.Ile177Lys)
c.410T>A (p.Ile137Lys)
2g.189565585T>ACA349988993SLC40A1c.529A>T (p.Ile177Leu)
c.409A>T (p.Ile137Leu)
2g.189565585T>CCA349988994SLC40A1c.529A>G (p.Ile177Val)
c.409A>G (p.Ile137Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189565585T>GCA349988995SLC40A1c.529A>C (p.Ile177Leu)
c.409A>C (p.Ile137Leu)
2g.189565585T=CA1315645109SLC40A1c.529A= (p.Ile177=)
c.409A= (p.Ile137=)
2g.189565586T>ACA430502851SLC40A1c.528A>T (p.Thr176=)
c.408A>T (p.Thr136=)
2g.189565586T>CCA2024199SLC40A1c.528A>G (p.Thr176=)
c.408A>G (p.Thr136=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565586T>GCA430502853SLC40A1c.528A>C (p.Thr176=)
c.408A>C (p.Thr136=)
2g.189565586T=CA1315645111SLC40A1c.528A= (p.Thr176=)
c.408A= (p.Thr136=)
2g.189565587G>ACA349988996SLC40A1c.527C>T (p.Thr176Ile)
c.407C>T (p.Thr136Ile)
2g.189565587G>CCA349988997SLC40A1c.527C>G (p.Thr176Arg)
c.407C>G (p.Thr136Arg)
2g.189565587G>TCA349988998SLC40A1c.527C>A (p.Thr176Lys)
c.407C>A (p.Thr136Lys)
2g.189565588T>ACA349988999SLC40A1c.526A>T (p.Thr176Ser)
c.406A>T (p.Thr136Ser)
2g.189565588T>CCA349989001SLC40A1c.526A>G (p.Thr176Ala)
c.406A>G (p.Thr136Ala)
 dbSNP gnomAD v2
2g.189565588T>GCA349989000SLC40A1c.526A>C (p.Thr176Pro)
c.406A>C (p.Thr136Pro)
2g.189565588T=CA1315645116SLC40A1c.526A= (p.Thr176=)
c.406A= (p.Thr136=)
2g.189565589G>ACA2024200SLC40A1c.525C>T (p.Ala175=)
c.405C>T (p.Ala135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565589G>CCA430502859SLC40A1c.525C>G (p.Ala175=)
c.405C>G (p.Ala135=)
 dbSNP gnomAD v4
2g.189565589G=CA1315645118SLC40A1c.525C= (p.Ala175=)
c.405C= (p.Ala135=)
2g.189565589G>TCA430502858SLC40A1c.525C>A (p.Ala175=)
c.405C>A (p.Ala135=)
2g.189565590G>ACA349989002SLC40A1c.524C>T (p.Ala175Val)
c.404C>T (p.Ala135Val)
2g.189565590G>CCA349989003SLC40A1c.524C>G (p.Ala175Gly)
c.404C>G (p.Ala135Gly)
2g.189565590G=CA1315645122SLC40A1c.524C= (p.Ala175=)
c.404C= (p.Ala135=)
2g.189565590G>TCA16610617SLC40A1c.524C>A (p.Ala175Asp)
c.404C>A (p.Ala135Asp)
 ClinVar dbSNP
2g.189565591C>ACA349989004SLC40A1c.523G>T (p.Ala175Ser)
c.403G>T (p.Ala135Ser)
 gnomAD v4
2g.189565591C>GCA349989006SLC40A1c.523G>C (p.Ala175Pro)
c.403G>C (p.Ala135Pro)
2g.189565591C>TCA349989005SLC40A1c.523G>A (p.Ala175Thr)
c.403G>A (p.Ala135Thr)
2g.189565592A>CCA349989007SLC40A1c.522T>G (p.Asn174Lys)
c.402T>G (p.Asn134Lys)
2g.189565592A>GCA430502863SLC40A1c.522T>C (p.Asn174=)
c.402T>C (p.Asn134=)
2g.189565592A>TCA349989008SLC40A1c.522T>A (p.Asn174Lys)
c.402T>A (p.Asn134Lys)
2g.189565593T>ACA349989009SLC40A1c.521A>T (p.Asn174Ile)
c.401A>T (p.Asn134Ile)
 dbSNP
2g.189565593T>CCA349989010SLC40A1c.521A>G (p.Asn174Ser)
c.401A>G (p.Asn134Ser)
 ClinVar dbSNP
2g.189565593T>GCA349989011SLC40A1c.521A>C (p.Asn174Thr)
c.401A>C (p.Asn134Thr)
2g.189565593T=CA1315645128SLC40A1c.521A= (p.Asn174=)
c.401A= (p.Asn134=)
2g.189565594T>ACA349989012SLC40A1c.520A>T (p.Asn174Tyr)
c.400A>T (p.Asn134Tyr)
2g.189565594T>CCA349989013SLC40A1c.520A>G (p.Asn174Asp)
c.400A>G (p.Asn134Asp)
2g.189565594T>GCA349989014SLC40A1c.520A>C (p.Asn174His)
c.400A>C (p.Asn134His)
2g.189565595C>ACA349989015SLC40A1c.519G>T (p.Met173Ile)
c.399G>T (p.Met133Ile)
2g.189565595C>GCA349989016SLC40A1c.519G>C (p.Met173Ile)
c.399G>C (p.Met133Ile)
2g.189565595C>TCA349989017SLC40A1c.519G>A (p.Met173Ile)
c.399G>A (p.Met133Ile)
2g.189565596A=CA1315645132SLC40A1c.518T= (p.Met173=)
c.398T= (p.Met133=)
2g.189565596A>CCA349989018SLC40A1c.518T>G (p.Met173Arg)
c.398T>G (p.Met133Arg)
2g.189565596A>GCA349989020SLC40A1c.518T>C (p.Met173Thr)
c.398T>C (p.Met133Thr)
 dbSNP gnomAD v4
2g.189565596A>TCA349989019SLC40A1c.518T>A (p.Met173Lys)
c.398T>A (p.Met133Lys)
2g.189565597T>ACA349989021SLC40A1c.517A>T (p.Met173Leu)
c.397A>T (p.Met133Leu)
2g.189565597T>CCA349989023SLC40A1c.517A>G (p.Met173Val)
c.397A>G (p.Met133Val)
 ClinVar dbSNP
2g.189565597T>GCA349989022SLC40A1c.517A>C (p.Met173Leu)
c.397A>C (p.Met133Leu)
2g.189565597T=CA1315645135SLC40A1c.517A= (p.Met173=)
c.397A= (p.Met133=)
2g.189565598A>CCA349989024SLC40A1c.516T>G (p.Asn172Lys)
c.396T>G (p.Asn132Lys)
2g.189565598A>GCA430502867SLC40A1c.516T>C (p.Asn172=)
c.396T>C (p.Asn132=)
 gnomAD v4
2g.189565598A>TCA349989025SLC40A1c.516T>A (p.Asn172Lys)
c.396T>A (p.Asn132Lys)
2g.189565599T>ACA349989026SLC40A1c.515A>T (p.Asn172Ile)
c.395A>T (p.Asn132Ile)
2g.189565599T>CCA349989027SLC40A1c.515A>G (p.Asn172Ser)
c.395A>G (p.Asn132Ser)
 dbSNP gnomAD v4
2g.189565599T>GCA349989028SLC40A1c.515A>C (p.Asn172Thr)
c.395A>C (p.Asn132Thr)
2g.189565599_189565600insTTGCTAGTTTGCTTCTGTCTTCTCCA2701182641SLC40A1c.515-1_515insGAGAAGACAGAAGCAAACTAGCAA (n.515-1_515insGAGAAGACAGAAGCAAACTAGCAA)
c.395-1_395insGAGAAGACAGAAGCAAACTAGCAA (n.395-1_395insGAGAAGACAGAAGCAAACTAGCAA)
 dbSNP
2g.189565600C>ACA349989029SLC40A1c.515-1G>T (n.515-1G>T)
c.395-1G>T (n.395-1G>T)
2g.189565600C>GCA349989030SLC40A1c.515-1G>C (n.515-1G>C)
c.395-1G>C (n.395-1G>C)
2g.189565600C>TCA349989031SLC40A1c.515-1G>A (n.515-1G>A)
c.395-1G>A (n.395-1G>A)
 gnomAD v4
2g.189565601T>ACA349989032SLC40A1c.515-2A>T (n.515-2A>T)
c.395-2A>T (n.395-2A>T)
 gnomAD v4
2g.189565601T>CCA349989033SLC40A1c.515-2A>G (n.515-2A>G)
c.395-2A>G (n.395-2A>G)
2g.189565601T>GCA349989034SLC40A1c.515-2A>C (n.515-2A>C)
c.395-2A>C (n.395-2A>C)
2g.189565602A=CA1315645138SLC40A1c.515-3T= (n.515-3T=)
c.395-3T= (n.395-3T=)
2g.189565602A>GCA1315645141SLC40A1c.515-3T>C (n.515-3T>C)
c.395-3T>C (n.395-3T>C)
 dbSNP
2g.189565603G>ACA2739279009SLC40A1c.515-4C>T (n.515-4C>T)
c.395-4C>T (n.395-4C>T)
 ClinVar
2g.189565603G>CCA2556791360SLC40A1c.515-4C>G (n.515-4C>G)
c.395-4C>G (n.395-4C>G)
2g.189565603G=CA1315645143SLC40A1c.515-4C= (n.515-4C=)
c.395-4C= (n.395-4C=)
2g.189565614_189565626dupCA538917990SLC40A1c.515-17_515-5dup (n.515-17_515-5dup)
c.395-17_395-5dup (n.395-17_395-5dup)
 dbSNP gnomAD v2 gnomAD v4
2g.189565614_189565626delCA2662329119SLC40A1c.515-17_515-5del (n.515-17_515-5del)
c.395-17_395-5del (n.395-17_395-5del)
 gnomAD v4
2g.189565605G>CCA2511406554SLC40A1c.515-6C>G (n.515-6C>G)
c.395-6C>G (n.395-6C>G)
2g.189565607G>ACA2662329122SLC40A1c.515-8C>T (n.515-8C>T)
c.395-8C>T (n.395-8C>T)
 gnomAD v4
2g.189565607G>CCA2662329123SLC40A1c.515-8C>G (n.515-8C>G)
c.395-8C>G (n.395-8C>G)
 gnomAD v4
2g.189565608G>ACA2024201SLC40A1c.515-9C>T (n.515-9C>T)
c.395-9C>T (n.395-9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565608G=CA1315645145SLC40A1c.515-9C= (n.515-9C=)
c.395-9C= (n.395-9C=)
2g.189565609C>TCA2556353423SLC40A1c.515-10G>A (n.515-10G>A)
c.395-10G>A (n.395-10G>A)
2g.189565611G>ACA2662329128SLC40A1c.515-12C>T (n.515-12C>T)
c.395-12C>T (n.395-12C>T)
 gnomAD v4
2g.189565613T>GCA2024202SLC40A1c.515-14A>C (n.515-14A>C)
c.395-14A>C (n.395-14A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565613T=CA1315645146SLC40A1c.515-14A= (n.515-14A=)
c.395-14A= (n.395-14A=)
2g.189565614G>ACA62903064SLC40A1c.515-15C>T (n.515-15C>T)
c.395-15C>T (n.395-15C>T)
 dbSNP COSMIC
2g.189565614G>CCA62903063SLC40A1c.515-15C>G (n.515-15C>G)
c.395-15C>G (n.395-15C>G)
 dbSNP gnomAD v4
2g.189565614G=CA1315645147SLC40A1c.515-15C= (n.515-15C=)
c.395-15C= (n.395-15C=)
2g.189565614G>TCA2662329135SLC40A1c.515-15C>A (n.515-15C>A)
c.395-15C>A (n.395-15C>A)
 ClinVar gnomAD v4
2g.189565615A=CA1315645148SLC40A1c.515-16T= (n.515-16T=)
c.395-16T= (n.395-16T=)
2g.189565615A>GCA2024203SLC40A1c.515-16T>C (n.515-16T>C)
c.395-16T>C (n.395-16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565617A=CA1315645149SLC40A1c.515-18T= (n.515-18T=)
c.395-18T= (n.395-18T=)
2g.189565617A>GCA762272543SLC40A1c.515-18T>C (n.515-18T>C)
c.395-18T>C (n.395-18T>C)
 dbSNP
2g.189565618G>ACA2662329138SLC40A1c.515-19C>T (n.515-19C>T)
c.395-19C>T (n.395-19C>T)
 gnomAD v4
2g.189565619A=CA1315645152SLC40A1c.515-20T= (n.515-20T=)
c.395-20T= (n.395-20T=)
2g.189565619A>GCA2577188106SLC40A1c.515-20T>C (n.515-20T>C)
c.395-20T>C (n.395-20T>C)
 gnomAD v4
2g.189565619A>TCA2024204SLC40A1c.515-20T>A (n.515-20T>A)
c.395-20T>A (n.395-20T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565621G>ACA2577188107SLC40A1c.515-22C>T (n.515-22C>T)
c.395-22C>T (n.395-22C>T)
 gnomAD v4
2g.189565622C>ACA2510578373SLC40A1c.515-23G>T (n.515-23G>T)
c.395-23G>T (n.395-23G>T)
2g.189565622C=CA1315645154SLC40A1c.515-23G= (n.515-23G=)
c.395-23G= (n.395-23G=)
2g.189565622C>TCA1040450145SLC40A1c.515-23G>A (n.515-23G>A)
c.395-23G>A (n.395-23G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189565624G>ACA762272544SLC40A1c.515-25C>T (n.515-25C>T)
c.395-25C>T (n.395-25C>T)
 dbSNP gnomAD v4
2g.189565624G=CA1315645157SLC40A1c.515-25C= (n.515-25C=)
c.395-25C= (n.395-25C=)
2g.189565625G>CCA2024205SLC40A1c.515-26C>G (n.515-26C>G)
c.395-26C>G (n.395-26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565625G=CA1315645159SLC40A1c.515-26C= (n.515-26C=)
c.395-26C= (n.395-26C=)
2g.189565625_189565626insCTGCGGGCTCCAGATGATCA2740352258SLC40A1c.515-27_515-26insATCATCTGGAGCCCGCAG (n.515-27_515-26insATCATCTGGAGCCCGCAG)
c.395-27_395-26insATCATCTGGAGCCCGCAG (n.395-27_395-26insATCATCTGGAGCCCGCAG)
2g.189565626T>CCA62903065SLC40A1c.515-27A>G (n.515-27A>G)
c.395-27A>G (n.395-27A>G)
 dbSNP gnomAD v4
2g.189565626T>GCA2024206SLC40A1c.515-27A>C (n.515-27A>C)
c.395-27A>C (n.395-27A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565626T=CA1315645161SLC40A1c.515-27A= (n.515-27A=)
c.395-27A= (n.395-27A=)
2g.189565627A>CCA2662329151SLC40A1c.515-28T>G (n.515-28T>G)
c.395-28T>G (n.395-28T>G)
 gnomAD v4
2g.189565628dupCA2753593863SLC40A1c.515-28dup (n.515-28dup)
c.395-28dup (n.395-28dup)
2g.189565629G>ACA762272546SLC40A1c.515-30C>T (n.515-30C>T)
c.395-30C>T (n.395-30C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189565629G>CCA2024207SLC40A1c.515-30C>G (n.515-30C>G)
c.395-30C>G (n.395-30C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565629G=CA1315645165SLC40A1c.515-30C= (n.515-30C=)
c.395-30C= (n.395-30C=)
2g.189565630T>ACA2753593864SLC40A1c.515-31A>T (n.515-31A>T)
c.395-31A>T (n.395-31A>T)
2g.189565630_189565631insAGGGAACATTAACTCCCA2740352259SLC40A1c.515-32_515-31insGGAGTTAATGTTCCCT (n.515-32_515-31insGGAGTTAATGTTCCCT)
c.395-32_395-31insGGAGTTAATGTTCCCT (n.395-32_395-31insGGAGTTAATGTTCCCT)

Number of alleles fetched