Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.45772510G>ACA352453793SLC6A20c.688C>T (p.Pro230Ser)
c.583-1052C>T (n.583-1052C>T)
c.547C>T (p.Pro183Ser)
c.391C>T (p.Pro131Ser)
3g.45772510G>CCA352453794SLC6A20c.688C>G (p.Pro230Ala)
c.583-1052C>G (n.583-1052C>G)
c.547C>G (p.Pro183Ala)
c.391C>G (p.Pro131Ala)
3g.45772510G>TCA352453796SLC6A20c.688C>A (p.Pro230Thr)
c.583-1052C>A (n.583-1052C>A)
c.547C>A (p.Pro183Thr)
c.391C>A (p.Pro131Thr)
3g.45772511A>CCA433447622SLC6A20c.687T>G (p.Thr229=)
c.583-1053T>G (n.583-1053T>G)
c.546T>G (p.Thr182=)
c.390T>G (p.Thr130=)
3g.45772511A>GCA433447623SLC6A20c.687T>C (p.Thr229=)
c.583-1053T>C (n.583-1053T>C)
c.546T>C (p.Thr182=)
c.390T>C (p.Thr130=)
3g.45772511A>TCA433447624SLC6A20c.687T>A (p.Thr229=)
c.583-1053T>A (n.583-1053T>A)
c.546T>A (p.Thr182=)
c.390T>A (p.Thr130=)
3g.45772512G>ACA2351530SLC6A20c.686C>T (p.Thr229Ile)
c.583-1054C>T (n.583-1054C>T)
c.545C>T (p.Thr182Ile)
c.389C>T (p.Thr130Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45772512G>CCA352453805SLC6A20c.686C>G (p.Thr229Ser)
c.583-1054C>G (n.583-1054C>G)
c.545C>G (p.Thr182Ser)
c.389C>G (p.Thr130Ser)
3g.45772512G=CA1361819835SLC6A20c.686C= (p.Thr229=)
c.583-1054C= (n.583-1054C=)
c.545C= (p.Thr182=)
c.389C= (p.Thr130=)
3g.45772512G>TCA352453806SLC6A20c.686C>A (p.Thr229Asn)
c.583-1054C>A (n.583-1054C>A)
c.545C>A (p.Thr182Asn)
c.389C>A (p.Thr130Asn)
3g.45772513T>ACA352453809SLC6A20c.685A>T (p.Thr229Ser)
c.583-1055A>T (n.583-1055A>T)
c.544A>T (p.Thr182Ser)
c.388A>T (p.Thr130Ser)
 gnomAD v4
3g.45772513T>CCA352453811SLC6A20c.685A>G (p.Thr229Ala)
c.583-1055A>G (n.583-1055A>G)
c.544A>G (p.Thr182Ala)
c.388A>G (p.Thr130Ala)
3g.45772513T>GCA352453813SLC6A20c.685A>C (p.Thr229Pro)
c.583-1055A>C (n.583-1055A>C)
c.544A>C (p.Thr182Pro)
c.388A>C (p.Thr130Pro)
3g.45772514G>ACA433447625SLC6A20c.684C>T (p.Phe228=)
c.583-1056C>T (n.583-1056C>T)
c.543C>T (p.Phe181=)
c.387C>T (p.Phe129=)
 dbSNP
3g.45772514G>CCA352453814SLC6A20c.684C>G (p.Phe228Leu)
c.583-1056C>G (n.583-1056C>G)
c.543C>G (p.Phe181Leu)
c.387C>G (p.Phe129Leu)
3g.45772514G=CA1361819837SLC6A20c.684C= (p.Phe228=)
c.583-1056C= (n.583-1056C=)
c.543C= (p.Phe181=)
c.387C= (p.Phe129=)
3g.45772514G>TCA352453817SLC6A20c.684C>A (p.Phe228Leu)
c.583-1056C>A (n.583-1056C>A)
c.543C>A (p.Phe181Leu)
c.387C>A (p.Phe129Leu)
3g.45772515A>CCA352453819SLC6A20c.683T>G (p.Phe228Cys)
c.583-1057T>G (n.583-1057T>G)
c.542T>G (p.Phe181Cys)
c.386T>G (p.Phe129Cys)
3g.45772515A>GCA352453820SLC6A20c.683T>C (p.Phe228Ser)
c.583-1057T>C (n.583-1057T>C)
c.542T>C (p.Phe181Ser)
c.386T>C (p.Phe129Ser)
3g.45772515A>TCA352453822SLC6A20c.683T>A (p.Phe228Tyr)
c.583-1057T>A (n.583-1057T>A)
c.542T>A (p.Phe181Tyr)
c.386T>A (p.Phe129Tyr)
 gnomAD v4
3g.45772516A>CCA352453824SLC6A20c.682T>G (p.Phe228Val)
c.583-1058T>G (n.583-1058T>G)
c.541T>G (p.Phe181Val)
c.385T>G (p.Phe129Val)
3g.45772516A>GCA352453825SLC6A20c.682T>C (p.Phe228Leu)
c.583-1058T>C (n.583-1058T>C)
c.541T>C (p.Phe181Leu)
c.385T>C (p.Phe129Leu)
 gnomAD v4
3g.45772516A>TCA352453823SLC6A20c.682T>A (p.Phe228Ile)
c.583-1058T>A (n.583-1058T>A)
c.541T>A (p.Phe181Ile)
c.385T>A (p.Phe129Ile)
3g.45772517C>ACA352453827SLC6A20c.681G>T (p.Met227Ile)
c.583-1059G>T (n.583-1059G>T)
c.540G>T (p.Met180Ile)
c.384G>T (p.Met128Ile)
 gnomAD v4
3g.45772517C>GCA352453829SLC6A20c.681G>C (p.Met227Ile)
c.583-1059G>C (n.583-1059G>C)
c.540G>C (p.Met180Ile)
c.384G>C (p.Met128Ile)
3g.45772517C>TCA352453832SLC6A20c.681G>A (p.Met227Ile)
c.583-1059G>A (n.583-1059G>A)
c.540G>A (p.Met180Ile)
c.384G>A (p.Met128Ile)
3g.45772518A>CCA352453840SLC6A20c.680T>G (p.Met227Arg)
c.583-1060T>G (n.583-1060T>G)
c.539T>G (p.Met180Arg)
c.383T>G (p.Met128Arg)
3g.45772518A>GCA352453841SLC6A20c.680T>C (p.Met227Thr)
c.583-1060T>C (n.583-1060T>C)
c.539T>C (p.Met180Thr)
c.383T>C (p.Met128Thr)
3g.45772518A>TCA352453843SLC6A20c.680T>A (p.Met227Lys)
c.583-1060T>A (n.583-1060T>A)
c.539T>A (p.Met180Lys)
c.383T>A (p.Met128Lys)
3g.45772519T>ACA352453846SLC6A20c.679A>T (p.Met227Leu)
c.583-1061A>T (n.583-1061A>T)
c.538A>T (p.Met180Leu)
c.382A>T (p.Met128Leu)
3g.45772519T>CCA352453854SLC6A20c.679A>G (p.Met227Val)
c.583-1061A>G (n.583-1061A>G)
c.538A>G (p.Met180Val)
c.382A>G (p.Met128Val)
 dbSNP gnomAD v4
3g.45772519T>GCA352453855SLC6A20c.679A>C (p.Met227Leu)
c.583-1061A>C (n.583-1061A>C)
c.538A>C (p.Met180Leu)
c.382A>C (p.Met128Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.45772519T=CA1361819839SLC6A20c.679A= (p.Met227=)
c.583-1061A= (n.583-1061A=)
c.538A= (p.Met180=)
c.382A= (p.Met128=)
3g.45772520G>ACA2351531SLC6A20c.678C>T (p.Tyr226=)
c.583-1062C>T (n.583-1062C>T)
c.537C>T (p.Tyr179=)
c.381C>T (p.Tyr127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45772520G>CCA352453867SLC6A20c.678C>G (p.Tyr226Ter)
c.583-1062C>G (n.583-1062C>G)
c.537C>G (p.Tyr179Ter)
c.381C>G (p.Tyr127Ter)
3g.45772520G=CA1361819842SLC6A20c.678C= (p.Tyr226=)
c.583-1062C= (n.583-1062C=)
c.537C= (p.Tyr179=)
c.381C= (p.Tyr127=)
3g.45772520G>TCA352453870SLC6A20c.678C>A (p.Tyr226Ter)
c.583-1062C>A (n.583-1062C>A)
c.537C>A (p.Tyr179Ter)
c.381C>A (p.Tyr127Ter)
3g.45772521T>ACA352453874SLC6A20c.677A>T (p.Tyr226Phe)
c.583-1063A>T (n.583-1063A>T)
c.536A>T (p.Tyr179Phe)
c.380A>T (p.Tyr127Phe)
3g.45772521T>CCA2351532SLC6A20c.677A>G (p.Tyr226Cys)
c.583-1063A>G (n.583-1063A>G)
c.536A>G (p.Tyr179Cys)
c.380A>G (p.Tyr127Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45772521T>GCA352453871SLC6A20c.677A>C (p.Tyr226Ser)
c.583-1063A>C (n.583-1063A>C)
c.536A>C (p.Tyr179Ser)
c.380A>C (p.Tyr127Ser)
3g.45772521T=CA1361819845SLC6A20c.677A= (p.Tyr226=)
c.583-1063A= (n.583-1063A=)
c.536A= (p.Tyr179=)
c.380A= (p.Tyr127=)
3g.45772522A=CA1361819847SLC6A20c.676T= (p.Tyr226=)
c.583-1064T= (n.583-1064T=)
c.535T= (p.Tyr179=)
c.379T= (p.Tyr127=)
3g.45772522A>CCA352453879SLC6A20c.676T>G (p.Tyr226Asp)
c.583-1064T>G (n.583-1064T>G)
c.535T>G (p.Tyr179Asp)
c.379T>G (p.Tyr127Asp)
 gnomAD v4
3g.45772522A>GCA352453880SLC6A20c.676T>C (p.Tyr226His)
c.583-1064T>C (n.583-1064T>C)
c.535T>C (p.Tyr179His)
c.379T>C (p.Tyr127His)
 dbSNP
3g.45772522A>TCA352453881SLC6A20c.676T>A (p.Tyr226Asn)
c.583-1064T>A (n.583-1064T>A)
c.535T>A (p.Tyr179Asn)
c.379T>A (p.Tyr127Asn)
3g.45772523C>ACA352453882SLC6A20c.675G>T (p.Met225Ile)
c.583-1065G>T (n.583-1065G>T)
c.534G>T (p.Met178Ile)
c.378G>T (p.Met126Ile)
3g.45772523C>GCA352453883SLC6A20c.675G>C (p.Met225Ile)
c.583-1065G>C (n.583-1065G>C)
c.534G>C (p.Met178Ile)
c.378G>C (p.Met126Ile)
3g.45772523C>TCA352453884SLC6A20c.675G>A (p.Met225Ile)
c.583-1065G>A (n.583-1065G>A)
c.534G>A (p.Met178Ile)
c.378G>A (p.Met126Ile)
 gnomAD v4
3g.45772524A=CA1361819849SLC6A20c.674T= (p.Met225=)
c.583-1066T= (n.583-1066T=)
c.533T= (p.Met178=)
c.377T= (p.Met126=)
3g.45772524A>CCA352453888SLC6A20c.674T>G (p.Met225Arg)
c.583-1066T>G (n.583-1066T>G)
c.533T>G (p.Met178Arg)
c.377T>G (p.Met126Arg)
 gnomAD v4

Number of alleles fetched