Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189563992C>ACA349987959SLC40A1c.994G>T (p.Ala332Ser)
c.874G>T (p.Ala292Ser)
2g.189563992C=CA1315654260SLC40A1c.994G= (p.Ala332=)
c.874G= (p.Ala292=)
2g.189563992C>GCA349987960SLC40A1c.994G>C (p.Ala332Pro)
c.874G>C (p.Ala292Pro)
2g.189563992C>TCA349987961SLC40A1c.994G>A (p.Ala332Thr)
c.874G>A (p.Ala292Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.189563993G>ACA2024130SLC40A1c.993C>T (p.Tyr331=)
c.873C>T (p.Tyr291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563993G>CCA349987963SLC40A1c.993C>G (p.Tyr331Ter)
c.873C>G (p.Tyr291Ter)
2g.189563993G=CA1315654263SLC40A1c.993C= (p.Tyr331=)
c.873C= (p.Tyr291=)
2g.189563993G>TCA349987962SLC40A1c.993C>A (p.Tyr331Ter)
c.873C>A (p.Tyr291Ter)
2g.189563994T>ACA349987964SLC40A1c.992A>T (p.Tyr331Phe)
c.872A>T (p.Tyr291Phe)
2g.189563994T>CCA349987965SLC40A1c.992A>G (p.Tyr331Cys)
c.872A>G (p.Tyr291Cys)
2g.189563994T>GCA349987966SLC40A1c.992A>C (p.Tyr331Ser)
c.872A>C (p.Tyr291Ser)
2g.189563995A>CCA349987967SLC40A1c.991T>G (p.Tyr331Asp)
c.871T>G (p.Tyr291Asp)
2g.189563995A>GCA349987968SLC40A1c.991T>C (p.Tyr331His)
c.871T>C (p.Tyr291His)
 COSMIC
2g.189563995A>TCA349987969SLC40A1c.991T>A (p.Tyr331Asn)
c.871T>A (p.Tyr291Asn)
2g.189563996C>ACA430503049SLC40A1c.990G>T (p.Gly330=)
c.870G>T (p.Gly290=)
2g.189563996C=CA1315654266SLC40A1c.990G= (p.Gly330=)
c.870G= (p.Gly290=)
2g.189563996C>GCA430503051SLC40A1c.990G>C (p.Gly330=)
c.870G>C (p.Gly290=)
2g.189563996C>TCA430503050SLC40A1c.990G>A (p.Gly330=)
c.870G>A (p.Gly290=)
 dbSNP gnomAD v3 gnomAD v4
2g.189563997C>ACA349987970SLC40A1c.989G>T (p.Gly330Val)
c.869G>T (p.Gly290Val)
2g.189563997C>GCA349987971SLC40A1c.989G>C (p.Gly330Ala)
c.869G>C (p.Gly290Ala)
2g.189563997C>TCA349987972SLC40A1c.989G>A (p.Gly330Glu)
c.869G>A (p.Gly290Glu)
 gnomAD v4
2g.189563998C>ACA349987973SLC40A1c.988G>T (p.Gly330Trp)
c.868G>T (p.Gly290Trp)
2g.189563998C>GCA349987974SLC40A1c.988G>C (p.Gly330Arg)
c.868G>C (p.Gly290Arg)
2g.189563998C>TCA349987975SLC40A1c.988G>A (p.Gly330Arg)
c.868G>A (p.Gly290Arg)
2g.189563999T>ACA430503055SLC40A1c.987A>T (p.Thr329=)
c.867A>T (p.Thr289=)
2g.189563999T>CCA430503056SLC40A1c.987A>G (p.Thr329=)
c.867A>G (p.Thr289=)
2g.189563999T>GCA430503057SLC40A1c.987A>C (p.Thr329=)
c.867A>C (p.Thr289=)
2g.189564000G>ACA349987977SLC40A1c.986C>T (p.Thr329Ile)
c.866C>T (p.Thr289Ile)
2g.189564000G>CCA349987978SLC40A1c.986C>G (p.Thr329Arg)
c.866C>G (p.Thr289Arg)
2g.189564000G>TCA349987976SLC40A1c.986C>A (p.Thr329Lys)
c.866C>A (p.Thr289Lys)
2g.189564001T>ACA349987979SLC40A1c.985A>T (p.Thr329Ser)
c.865A>T (p.Thr289Ser)
2g.189564001T>CCA349987981SLC40A1c.985A>G (p.Thr329Ala)
c.865A>G (p.Thr289Ala)
 gnomAD v4
2g.189564001T>GCA349987980SLC40A1c.985A>C (p.Thr329Pro)
c.865A>C (p.Thr289Pro)
2g.189564002G>ACA430503059SLC40A1c.984C>T (p.Thr328=)
c.864C>T (p.Thr288=)
 dbSNP gnomAD v4
2g.189564002G>CCA430503060SLC40A1c.984C>G (p.Thr328=)
c.864C>G (p.Thr288=)
2g.189564002G=CA1315654268SLC40A1c.984C= (p.Thr328=)
c.864C= (p.Thr288=)
2g.189564002G>TCA430503061SLC40A1c.984C>A (p.Thr328=)
c.864C>A (p.Thr288=)
2g.189564003G>ACA349987982SLC40A1c.983C>T (p.Thr328Ile)
c.863C>T (p.Thr288Ile)
 gnomAD v4
2g.189564003G>CCA349987984SLC40A1c.983C>G (p.Thr328Ser)
c.863C>G (p.Thr288Ser)
2g.189564003G>TCA349987983SLC40A1c.983C>A (p.Thr328Asn)
c.863C>A (p.Thr288Asn)
 gnomAD v4
2g.189564004T>ACA349987985SLC40A1c.982A>T (p.Thr328Ser)
c.862A>T (p.Thr288Ser)
2g.189564004T>CCA62902902SLC40A1c.982A>G (p.Thr328Ala)
c.862A>G (p.Thr288Ala)
 dbSNP
2g.189564004T>GCA349987986SLC40A1c.982A>C (p.Thr328Pro)
c.862A>C (p.Thr288Pro)
2g.189564004T=CA1315654271SLC40A1c.982A= (p.Thr328=)
c.862A= (p.Thr288=)
2g.189564005G>ACA62902903SLC40A1c.981C>T (p.Ile327=)
c.861C>T (p.Ile287=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564005G>CCA349987987SLC40A1c.981C>G (p.Ile327Met)
c.861C>G (p.Ile287Met)
2g.189564005G=CA1315654274SLC40A1c.981C= (p.Ile327=)
c.861C= (p.Ile287=)
2g.189564005G>TCA430503063SLC40A1c.981C>A (p.Ile327=)
c.861C>A (p.Ile287=)
2g.189564006A>CCA349987988SLC40A1c.980T>G (p.Ile327Ser)
c.860T>G (p.Ile287Ser)
2g.189564006A>GCA349987989SLC40A1c.980T>C (p.Ile327Thr)
c.860T>C (p.Ile287Thr)

Number of alleles fetched