Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.70853248G>ACA355011TEX11c.405C>T (p.Ala135=)
c.450C>T (p.Ala150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853248G>CCA516759889TEX11c.405C>G (p.Ala135=)
c.450C>G (p.Ala150=)
Xg.70853248G=CA2436261268TEX11c.405C= (p.Ala135=)
c.450C= (p.Ala150=)
Xg.70853248G>TCA516759882TEX11c.405C>A (p.Ala135=)
c.450C>A (p.Ala150=)
 COSMIC COSMIC
Xg.70853249G>ACA413608017TEX11c.404C>T (p.Ala135Val)
c.449C>T (p.Ala150Val)
Xg.70853249G>CCA413608018TEX11c.404C>G (p.Ala135Gly)
c.449C>G (p.Ala150Gly)
Xg.70853249G>TCA413608019TEX11c.404C>A (p.Ala135Asp)
c.449C>A (p.Ala150Asp)
Xg.70853250C>ACA413608020TEX11c.403G>T (p.Ala135Ser)
c.448G>T (p.Ala150Ser)
Xg.70853250C>GCA413608022TEX11c.403G>C (p.Ala135Pro)
c.448G>C (p.Ala150Pro)
Xg.70853250C>TCA413608021TEX11c.403G>A (p.Ala135Thr)
c.448G>A (p.Ala150Thr)
 gnomAD v4
Xg.70853251C>ACA516759907TEX11c.402G>T (p.Val134=)
c.447G>T (p.Val149=)
Xg.70853251C>GCA516759906TEX11c.402G>C (p.Val134=)
c.447G>C (p.Val149=)
Xg.70853251C>TCA516759905TEX11c.402G>A (p.Val134=)
c.447G>A (p.Val149=)
Xg.70853252A>CCA413608023TEX11c.401T>G (p.Val134Gly)
c.446T>G (p.Val149Gly)
Xg.70853252A>GCA413608025TEX11c.401T>C (p.Val134Ala)
c.446T>C (p.Val149Ala)
Xg.70853252A>TCA413608024TEX11c.401T>A (p.Val134Glu)
c.446T>A (p.Val149Glu)
Xg.70853253C>ACA331002041TEX11c.400G>T (p.Val134Leu)
c.445G>T (p.Val149Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.70853253C=CA2436261269TEX11c.400G= (p.Val134=)
c.445G= (p.Val149=)
Xg.70853253C>GCA413608026TEX11c.400G>C (p.Val134Leu)
c.445G>C (p.Val149Leu)
 gnomAD v4
Xg.70853253C>TCA413608027TEX11c.400G>A (p.Val134Met)
c.445G>A (p.Val149Met)
Xg.70853254A=CA2436261270TEX11c.399T= (p.Ala133=)
c.444T= (p.Ala148=)
Xg.70853254A>CCA516759920TEX11c.399T>G (p.Ala133=)
c.444T>G (p.Ala148=)
Xg.70853254A>GCA10442914TEX11c.399T>C (p.Ala133=)
c.444T>C (p.Ala148=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853254A>TCA516759922TEX11c.399T>A (p.Ala133=)
c.444T>A (p.Ala148=)
Xg.70853255G>ACA413608028TEX11c.398C>T (p.Ala133Val)
c.443C>T (p.Ala148Val)
Xg.70853255G>CCA413608029TEX11c.398C>G (p.Ala133Gly)
c.443C>G (p.Ala148Gly)
Xg.70853255G>TCA413608030TEX11c.398C>A (p.Ala133Asp)
c.443C>A (p.Ala148Asp)
Xg.70853256C>ACA413608031TEX11c.397G>T (p.Ala133Ser)
c.442G>T (p.Ala148Ser)
Xg.70853256C>GCA413608032TEX11c.397G>C (p.Ala133Pro)
c.442G>C (p.Ala148Pro)
Xg.70853256C>TCA413608033TEX11c.397G>A (p.Ala133Thr)
c.442G>A (p.Ala148Thr)
Xg.70853257A=CA2436261271TEX11c.396T= (p.Ala132=)
c.441T= (p.Ala147=)
Xg.70853257A>CCA516759946TEX11c.396T>G (p.Ala132=)
c.441T>G (p.Ala147=)
Xg.70853257A>GCA516759949TEX11c.396T>C (p.Ala132=)
c.441T>C (p.Ala147=)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.70853257A>TCA516759953TEX11c.396T>A (p.Ala132=)
c.441T>A (p.Ala147=)
Xg.70853258G>ACA413608034TEX11c.395C>T (p.Ala132Val)
c.440C>T (p.Ala147Val)
Xg.70853258G>CCA413608035TEX11c.395C>G (p.Ala132Gly)
c.440C>G (p.Ala147Gly)
Xg.70853258G>TCA413608036TEX11c.395C>A (p.Ala132Asp)
c.440C>A (p.Ala147Asp)
Xg.70853259C>ACA413608039TEX11c.394G>T (p.Ala132Ser)
c.439G>T (p.Ala147Ser)
Xg.70853259C>GCA413608038TEX11c.394G>C (p.Ala132Pro)
c.439G>C (p.Ala147Pro)
Xg.70853259C>TCA413608037TEX11c.394G>A (p.Ala132Thr)
c.439G>A (p.Ala147Thr)
Xg.70853260T>ACA413608040TEX11c.393A>T (p.Gln131His)
c.438A>T (p.Gln146His)
Xg.70853260T>CCA516759972TEX11c.393A>G (p.Gln131=)
c.438A>G (p.Gln146=)
Xg.70853260T>GCA413608041TEX11c.393A>C (p.Gln131His)
c.438A>C (p.Gln146His)
Xg.70853261delCA2579637147TEX11c.393del (p.Ala132LeufsTer13)
c.438del (p.Ala147LeufsTer13)
Xg.70853261T>ACA413608042TEX11c.392A>T (p.Gln131Leu)
c.437A>T (p.Gln146Leu)
Xg.70853261T>CCA10442915TEX11c.392A>G (p.Gln131Arg)
c.437A>G (p.Gln146Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853261T>GCA413608043TEX11c.392A>C (p.Gln131Pro)
c.437A>C (p.Gln146Pro)
Xg.70853261T=CA2436261272TEX11c.392A= (p.Gln131=)
c.437A= (p.Gln146=)
Xg.70853262G>ACA413608044TEX11c.391C>T (p.Gln131Ter)
c.436C>T (p.Gln146Ter)
Xg.70853262G>CCA413608045TEX11c.391C>G (p.Gln131Glu)
c.436C>G (p.Gln146Glu)

Number of alleles fetched