Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched