Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.37965916T>A | CA370694933 | ADRB3 | c.554A>T (p.Glu185Val) n.682A>T c.38A>T (p.Glu13Val) | |
8 | g.37965916T>C | CA370694936 | ADRB3 | c.554A>G (p.Glu185Gly) n.682A>G c.38A>G (p.Glu13Gly) | |
8 | g.37965916T>G | CA370694937 | ADRB3 | c.554A>C (p.Glu185Ala) n.682A>C c.38A>C (p.Glu13Ala) | |
8 | g.37965917C>A | CA175071758 | ADRB3 | c.553G>T (p.Glu185Ter) n.681G>T c.37G>T (p.Glu13Ter) | dbSNP gnomAD v4 |
8 | g.37965917C= | CA1777329150 | ADRB3 | c.553G= (p.Glu185=) n.681G= c.37G= (p.Glu13=) | |
8 | g.37965917C>G | CA370694942 | ADRB3 | c.553G>C (p.Glu185Gln) n.681G>C c.37G>C (p.Glu13Gln) | gnomAD v4 |
8 | g.37965917C>T | CA370694944 | ADRB3 | c.553G>A (p.Glu185Lys) n.681G>A c.37G>A (p.Glu13Lys) | gnomAD v4 |
8 | g.37965918G>A | CA460495140 | ADRB3 | c.552C>T (p.Ala184=) n.680C>T c.36C>T (p.Ala12=) | gnomAD v4 |
8 | g.37965918G>C | CA4714381 | ADRB3 | c.552C>G (p.Ala184=) n.680C>G c.36C>G (p.Ala12=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965918G= | CA1777329151 | ADRB3 | c.552C= (p.Ala184=) n.680C= c.36C= (p.Ala12=) | |
8 | g.37965918G>T | CA460495144 | ADRB3 | c.552C>A (p.Ala184=) n.680C>A c.36C>A (p.Ala12=) | |
8 | g.37965919G>A | CA370694949 | ADRB3 | c.551C>T (p.Ala184Val) n.679C>T c.35C>T (p.Ala12Val) | COSMIC |
8 | g.37965919G>C | CA370694950 | ADRB3 | c.551C>G (p.Ala184Gly) n.679C>G c.35C>G (p.Ala12Gly) | |
8 | g.37965919G>T | CA370694952 | ADRB3 | c.551C>A (p.Ala184Asp) n.679C>A c.35C>A (p.Ala12Asp) | gnomAD v4 |
8 | g.37965919_37965920insT | CA2686921911 | ADRB3 | c.550_551insA (p.Ala184AspfsTer?) n.678_679insA c.34_35insA (p.Ala12AspfsTer?) | gnomAD v4 |
8 | g.37965920C>A | CA370694953 | ADRB3 | c.550G>T (p.Ala184Ser) n.678G>T c.34G>T (p.Ala12Ser) | |
8 | g.37965920C= | CA1777329152 | ADRB3 | c.550G= (p.Ala184=) n.678G= c.34G= (p.Ala12=) | |
8 | g.37965920C>G | CA370694955 | ADRB3 | c.550G>C (p.Ala184Pro) n.678G>C c.34G>C (p.Ala12Pro) | gnomAD v4 |
8 | g.37965920C>T | CA370694956 | ADRB3 | c.550G>A (p.Ala184Thr) n.678G>A c.34G>A (p.Ala12Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965921G>A | CA460495148 | ADRB3 | c.549C>T (p.Asp183=) n.677C>T c.33C>T (p.Asp11=) | |
8 | g.37965921G>C | CA370694959 | ADRB3 | c.549C>G (p.Asp183Glu) n.677C>G c.33C>G (p.Asp11Glu) | |
8 | g.37965921G>T | CA370694958 | ADRB3 | c.549C>A (p.Asp183Glu) n.677C>A c.33C>A (p.Asp11Glu) | |
8 | g.37965922T>A | CA370694961 | ADRB3 | c.548A>T (p.Asp183Val) n.676A>T c.32A>T (p.Asp11Val) | |
8 | g.37965922T>C | CA370694962 | ADRB3 | c.548A>G (p.Asp183Gly) n.676A>G c.32A>G (p.Asp11Gly) | |
8 | g.37965922T>G | CA370694964 | ADRB3 | c.548A>C (p.Asp183Ala) n.676A>C c.32A>C (p.Asp11Ala) | |
8 | g.37965923C>A | CA370694966 | ADRB3 | c.547G>T (p.Asp183Tyr) n.675G>T c.31G>T (p.Asp11Tyr) | |
8 | g.37965923C= | CA1777329153 | ADRB3 | c.547G= (p.Asp183=) n.675G= c.31G= (p.Asp11=) | |
8 | g.37965923C>G | CA370694968 | ADRB3 | c.547G>C (p.Asp183His) n.675G>C c.31G>C (p.Asp11His) | gnomAD v4 |
8 | g.37965923C>T | CA370694973 | ADRB3 | c.547G>A (p.Asp183Asn) n.675G>A c.31G>A (p.Asp11Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965924G>A | CA4714382 | ADRB3 | c.546C>T (p.Ala182=) n.674C>T c.30C>T (p.Ala10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965924G>C | CA460495151 | ADRB3 | c.546C>G (p.Ala182=) n.674C>G c.30C>G (p.Ala10=) | gnomAD v4 |
8 | g.37965924G= | CA1777329154 | ADRB3 | c.546C= (p.Ala182=) n.674C= c.30C= (p.Ala10=) | |
8 | g.37965924G>T | CA460495152 | ADRB3 | c.546C>A (p.Ala182=) n.674C>A c.30C>A (p.Ala10=) | gnomAD v4 |
8 | g.37965925G>A | CA370694979 | ADRB3 | c.545C>T (p.Ala182Val) n.673C>T c.29C>T (p.Ala10Val) | gnomAD v4 |
8 | g.37965925G>C | CA370694980 | ADRB3 | c.545C>G (p.Ala182Gly) n.673C>G c.29C>G (p.Ala10Gly) | |
8 | g.37965925G>T | CA370694982 | ADRB3 | c.545C>A (p.Ala182Asp) n.673C>A c.29C>A (p.Ala10Asp) | |
8 | g.37965925_37965926del | CA2686921912 | ADRB3 | c.544_545del (p.Ala182ArgfsTer?) n.672_673del c.28_29del (p.Ala10ArgfsTer?) | gnomAD v4 |
8 | g.37965926C>A | CA370694985 | ADRB3 | c.544G>T (p.Ala182Ser) n.672G>T c.28G>T (p.Ala10Ser) | |
8 | g.37965926C= | CA1777329155 | ADRB3 | c.544G= (p.Ala182=) n.672G= c.28G= (p.Ala10=) | |
8 | g.37965926C>G | CA370694988 | ADRB3 | c.544G>C (p.Ala182Pro) n.672G>C c.28G>C (p.Ala10Pro) | |
8 | g.37965926C>T | CA370694991 | ADRB3 | c.544G>A (p.Ala182Thr) n.672G>A c.28G>A (p.Ala10Thr) | dbSNP gnomAD v4 |
8 | g.37965927C>A | CA175071762 | ADRB3 | c.543G>T (p.Gly181=) n.671G>T c.27G>T (p.Gly9=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965927C= | CA1777329156 | ADRB3 | c.543G= (p.Gly181=) n.671G= c.27G= (p.Gly9=) | |
8 | g.37965927C>G | CA460495155 | ADRB3 | c.543G>C (p.Gly181=) n.671G>C c.27G>C (p.Gly9=) | |
8 | g.37965927C>T | CA460495156 | ADRB3 | c.543G>A (p.Gly181=) n.671G>A c.27G>A (p.Gly9=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965928C>A | CA370694998 | ADRB3 | c.542G>T (p.Gly181Val) n.670G>T c.26G>T (p.Gly9Val) | gnomAD v4 |
8 | g.37965928C= | CA1777329157 | ADRB3 | c.542G= (p.Gly181=) n.670G= c.26G= (p.Gly9=) | |
8 | g.37965928C>G | CA370694994 | ADRB3 | c.542G>C (p.Gly181Ala) n.670G>C c.26G>C (p.Gly9Ala) | |
8 | g.37965928C>T | CA370694997 | ADRB3 | c.542G>A (p.Gly181Glu) n.670G>A c.26G>A (p.Gly9Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.37965929C>A | CA370695001 | ADRB3 | c.541G>T (p.Gly181Trp) n.669G>T c.25G>T (p.Gly9Trp) |