Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67436251delCA2576029168HSD11B2c.667del
n.530del
gnomAD v4
16g.67436251G>ACA121888HSD11B2c.667G>A (p.Asp223Asn)
n.530G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436251G>CCA396280073HSD11B2c.667G>C (p.Asp223His)
n.530G>C
16g.67436251G=CA2229309968HSD11B2c.667G= (p.Asp223=)
n.530G=
16g.67436251G>TCA396280076HSD11B2c.667G>T (p.Asp223Tyr)
n.530G>T
16g.67436252A>CCA396280087HSD11B2c.668A>C (p.Asp223Ala)
n.531A>C
16g.67436252A>GCA396280085HSD11B2c.668A>G (p.Asp223Gly)
n.531A>G
16g.67436252A>TCA396280083HSD11B2c.668A>T (p.Asp223Val)
n.531A>T
16g.67436253C>ACA396280095HSD11B2c.669C>A (p.Asp223Glu)
n.532C>A
16g.67436253C=CA2229309972HSD11B2c.669C= (p.Asp223=)
n.532C=
16g.67436253C>GCA396280090HSD11B2c.669C>G (p.Asp223Glu)
n.532C>G
16g.67436253C>TCA8110717HSD11B2c.669C>T (p.Asp223=)
n.532C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436254A=CA2229309975HSD11B2c.670A= (p.Met224=)
n.533A=
16g.67436254A>CCA396280096HSD11B2c.670A>C (p.Met224Leu)
n.533A>C
dbSNP gnomAD v3 gnomAD v4
16g.67436254A>GCA396280101HSD11B2c.670A>G (p.Met224Val)
n.533A>G
16g.67436254A>TCA396280104HSD11B2c.670A>T (p.Met224Leu)
n.533A>T
16g.67436255T>ACA396280112HSD11B2c.671T>A (p.Met224Lys)
n.534T>A
16g.67436255T>CCA396280108HSD11B2c.671T>C (p.Met224Thr)
n.534T>C
16g.67436255T>GCA396280106HSD11B2c.671T>G (p.Met224Arg)
n.534T>G
dbSNP gnomAD v2 gnomAD v4
16g.67436255T=CA2229309979HSD11B2c.671T= (p.Met224=)
n.534T=
16g.67436256G>ACA396280116HSD11B2c.672G>A (p.Met224Ile)
n.535G>A
dbSNP gnomAD v2 gnomAD v4
16g.67436256G>CCA396280120HSD11B2c.672G>C (p.Met224Ile)
n.535G>C
16g.67436256G=CA2229309982HSD11B2c.672G= (p.Met224=)
n.535G=
16g.67436256G>TCA396280123HSD11B2c.672G>T (p.Met224Ile)
n.535G>T
16g.67436257C>ACA8110718HSD11B2c.673C>A (p.Pro225Thr)
n.536C>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67436257C=CA2229309983HSD11B2c.673C= (p.Pro225=)
n.536C=
16g.67436257C>GCA396280129HSD11B2c.673C>G (p.Pro225Ala)
n.536C>G
gnomAD v4
16g.67436257C>TCA396280132HSD11B2c.673C>T (p.Pro225Ser)
n.536C>T
16g.67436258C>ACA396280135HSD11B2c.674C>A (p.Pro225Gln)
n.537C>A
16g.67436258C>GCA396280140HSD11B2c.674C>G (p.Pro225Arg)
n.537C>G
16g.67436258C>TCA396280136HSD11B2c.674C>T (p.Pro225Leu)
n.537C>T
16g.67436259A=CA2229309986HSD11B2c.675A= (p.Pro225=)
n.538A=
16g.67436259A>CCA496082827HSD11B2c.675A>C (p.Pro225=)
n.538A>C
16g.67436259A>GCA8110719HSD11B2c.675A>G (p.Pro225=)
n.538A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436259A>TCA496082828HSD11B2c.675A>T (p.Pro225=)
n.538A>T
gnomAD v4
16g.67436259_67436260delinsGACA2695223624HSD11B2c.675_676delinsGA (p.Tyr226Asn)
n.538_539delinsGA
16g.67436260T>ACA396280145HSD11B2c.676T>A (p.Tyr226Asn)
n.539T>A
16g.67436260T>CCA396280148HSD11B2c.676T>C (p.Tyr226His)
n.539T>C
16g.67436260T>GCA396280162HSD11B2c.676T>G (p.Tyr226Asp)
n.539T>G
16g.67436261A>CCA396280171HSD11B2c.677A>C (p.Tyr226Ser)
n.540A>C
16g.67436261A>GCA396280173HSD11B2c.677A>G (p.Tyr226Cys)
n.540A>G
16g.67436261A>TCA396280176HSD11B2c.677A>T (p.Tyr226Phe)
n.540A>T
16g.67436262T>ACA396280178HSD11B2c.678T>A (p.Tyr226Ter)
16g.67436262T>CCA496082834HSD11B2c.678T>C (p.Tyr226=)
gnomAD v4
16g.67436262T>GCA396280181HSD11B2c.678T>G (p.Tyr226Ter)
16g.67436263C>ACA396280185HSD11B2c.679C>A (p.Pro227Thr)
16g.67436263C>GCA396280189HSD11B2c.679C>G (p.Pro227Ala)
16g.67436263C>TCA396280191HSD11B2c.679C>T (p.Pro227Ser)
16g.67436264C>ACA396280199HSD11B2c.680C>A (p.Pro227Gln)
gnomAD v4
16g.67436264C=CA2229309992HSD11B2c.680C= (p.Pro227=)

Number of alleles fetched