Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67436252A>C | CA396280087 | HSD11B2 | c.668A>C (p.Asp223Ala) n.531A>C | |
16 | g.67436252A>G | CA396280085 | HSD11B2 | c.668A>G (p.Asp223Gly) n.531A>G | |
16 | g.67436252A>T | CA396280083 | HSD11B2 | c.668A>T (p.Asp223Val) n.531A>T | |
16 | g.67436253C>A | CA396280095 | HSD11B2 | c.669C>A (p.Asp223Glu) n.532C>A | |
16 | g.67436253C= | CA2229309972 | HSD11B2 | c.669C= (p.Asp223=) n.532C= | |
16 | g.67436253C>G | CA396280090 | HSD11B2 | c.669C>G (p.Asp223Glu) n.532C>G | |
16 | g.67436253C>T | CA8110717 | HSD11B2 | c.669C>T (p.Asp223=) n.532C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436254A= | CA2229309975 | HSD11B2 | c.670A= (p.Met224=) n.533A= | |
16 | g.67436254A>C | CA396280096 | HSD11B2 | c.670A>C (p.Met224Leu) n.533A>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436254A>G | CA396280101 | HSD11B2 | c.670A>G (p.Met224Val) n.533A>G | |
16 | g.67436254A>T | CA396280104 | HSD11B2 | c.670A>T (p.Met224Leu) n.533A>T | |
16 | g.67436255T>A | CA396280112 | HSD11B2 | c.671T>A (p.Met224Lys) n.534T>A | |
16 | g.67436255T>C | CA396280108 | HSD11B2 | c.671T>C (p.Met224Thr) n.534T>C | |
16 | g.67436255T>G | CA396280106 | HSD11B2 | c.671T>G (p.Met224Arg) n.534T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436255T= | CA2229309979 | HSD11B2 | c.671T= (p.Met224=) n.534T= | |
16 | g.67436256G>A | CA396280116 | HSD11B2 | c.672G>A (p.Met224Ile) n.535G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436256G>C | CA396280120 | HSD11B2 | c.672G>C (p.Met224Ile) n.535G>C | |
16 | g.67436256G= | CA2229309982 | HSD11B2 | c.672G= (p.Met224=) n.535G= | |
16 | g.67436256G>T | CA396280123 | HSD11B2 | c.672G>T (p.Met224Ile) n.535G>T | |
16 | g.67436257C>A | CA8110718 | HSD11B2 | c.673C>A (p.Pro225Thr) n.536C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436257C= | CA2229309983 | HSD11B2 | c.673C= (p.Pro225=) n.536C= | |
16 | g.67436257C>G | CA396280129 | HSD11B2 | c.673C>G (p.Pro225Ala) n.536C>G | gnomAD v4 |
16 | g.67436257C>T | CA396280132 | HSD11B2 | c.673C>T (p.Pro225Ser) n.536C>T | |
16 | g.67436258C>A | CA396280135 | HSD11B2 | c.674C>A (p.Pro225Gln) n.537C>A | |
16 | g.67436258C>G | CA396280140 | HSD11B2 | c.674C>G (p.Pro225Arg) n.537C>G | |
16 | g.67436258C>T | CA396280136 | HSD11B2 | c.674C>T (p.Pro225Leu) n.537C>T | |
16 | g.67436259A= | CA2229309986 | HSD11B2 | c.675A= (p.Pro225=) n.538A= | |
16 | g.67436259A>C | CA496082827 | HSD11B2 | c.675A>C (p.Pro225=) n.538A>C | |
16 | g.67436259A>G | CA8110719 | HSD11B2 | c.675A>G (p.Pro225=) n.538A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436259A>T | CA496082828 | HSD11B2 | c.675A>T (p.Pro225=) n.538A>T | gnomAD v4 |
16 | g.67436259_67436260delinsGA | CA2695223624 | HSD11B2 | c.675_676delinsGA (p.Tyr226Asn) n.538_539delinsGA | |
16 | g.67436260T>A | CA396280145 | HSD11B2 | c.676T>A (p.Tyr226Asn) n.539T>A | |
16 | g.67436260T>C | CA396280148 | HSD11B2 | c.676T>C (p.Tyr226His) n.539T>C | |
16 | g.67436260T>G | CA396280162 | HSD11B2 | c.676T>G (p.Tyr226Asp) n.539T>G | |
16 | g.67436261A>C | CA396280171 | HSD11B2 | c.677A>C (p.Tyr226Ser) n.540A>C | |
16 | g.67436261A>G | CA396280173 | HSD11B2 | c.677A>G (p.Tyr226Cys) n.540A>G | |
16 | g.67436261A>T | CA396280176 | HSD11B2 | c.677A>T (p.Tyr226Phe) n.540A>T | |
16 | g.67436262T>A | CA396280178 | HSD11B2 | c.678T>A (p.Tyr226Ter) | |
16 | g.67436262T>C | CA496082834 | HSD11B2 | c.678T>C (p.Tyr226=) | gnomAD v4 |
16 | g.67436262T>G | CA396280181 | HSD11B2 | c.678T>G (p.Tyr226Ter) | |
16 | g.67436263C>A | CA396280185 | HSD11B2 | c.679C>A (p.Pro227Thr) | |
16 | g.67436263C>G | CA396280189 | HSD11B2 | c.679C>G (p.Pro227Ala) | |
16 | g.67436263C>T | CA396280191 | HSD11B2 | c.679C>T (p.Pro227Ser) | |
16 | g.67436264C>A | CA396280199 | HSD11B2 | c.680C>A (p.Pro227Gln) | gnomAD v4 |
16 | g.67436264C= | CA2229309992 | HSD11B2 | c.680C= (p.Pro227=) | |
16 | g.67436264C>G | CA396280201 | HSD11B2 | c.680C>G (p.Pro227Arg) | dbSNP |
16 | g.67436264C>T | CA121886 | HSD11B2 | c.680C>T (p.Pro227Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436265G>A | CA8110720 | HSD11B2 | c.681G>A (p.Pro227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436265G>C | CA496082839 | HSD11B2 | c.681G>C (p.Pro227=) | |
16 | g.67436265G= | CA2229309997 | HSD11B2 | c.681G= (p.Pro227=) |