Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched