| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965786_37965788delinsGAA | CA1777329026 | ADRB3 | c.682_684delinsTTC (p.Phe228=) n.810_812delinsTTC c.166_168delinsTTC (p.Phe56=) | |
| 8 | g.37965790dup | CA2968109981 | ADRB3 | c.683dup (p.Val229ArgfsTer?) n.811dup c.167dup (p.Val57ArgfsTer?) | |
| 8 | g.37965790del | CA2968109982 | ADRB3 | c.683del (p.Phe228SerfsTer?) n.811del c.167del (p.Phe56SerfsTer?) | |
| 8 | g.37965789_37965790del | CA581430209 | ADRB3 | c.682_683del (p.Phe228ArgfsTer?) n.810_811del c.166_167del (p.Phe56ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965788A= | CA1777329032 | ADRB3 | c.682T= (p.Phe228=) n.810T= c.166T= (p.Phe56=) | |
| 8 | g.37965788A>C | CA370694188 | ADRB3 | c.682T>G (p.Phe228Val) n.810T>G c.166T>G (p.Phe56Val) | |
| 8 | g.37965788A>G | CA4714366 | ADRB3 | c.682T>C (p.Phe228Leu) n.810T>C c.166T>C (p.Phe56Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965788A>T | CA370694187 | ADRB3 | c.682T>A (p.Phe228Ile) n.810T>A c.166T>A (p.Phe56Ile) | |
| 8 | g.37965789A>C | CA460494942 | ADRB3 | c.681T>G (p.Val227=) n.809T>G c.165T>G (p.Val55=) | gnomAD v4 |
| 8 | g.37965789A>G | CA460494943 | ADRB3 | c.681T>C (p.Val227=) n.809T>C c.165T>C (p.Val55=) | |
| 8 | g.37965789A>T | CA460494944 | ADRB3 | c.681T>A (p.Val227=) n.809T>A c.165T>A (p.Val55=) | |
| 8 | g.37965790A>C | CA370694197 | ADRB3 | c.680T>G (p.Val227Gly) n.808T>G c.164T>G (p.Val55Gly) | |
| 8 | g.37965790A>G | CA370694200 | ADRB3 | c.680T>C (p.Val227Ala) n.808T>C c.164T>C (p.Val55Ala) | |
| 8 | g.37965790A>T | CA370694204 | ADRB3 | c.680T>A (p.Val227Asp) n.808T>A c.164T>A (p.Val55Asp) | |
| 8 | g.37965791C>A | CA370694211 | ADRB3 | c.679G>T (p.Val227Phe) n.807G>T c.163G>T (p.Val55Phe) | gnomAD v4 |
| 8 | g.37965791C>G | CA370694212 | ADRB3 | c.679G>C (p.Val227Leu) n.807G>C c.163G>C (p.Val55Leu) | |
| 8 | g.37965791C>T | CA370694213 | ADRB3 | c.679G>A (p.Val227Ile) n.807G>A c.163G>A (p.Val55Ile) | |
| 8 | g.37965792C>A | CA460494954 | ADRB3 | c.678G>T (p.Arg226=) n.806G>T c.162G>T (p.Arg54=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965792C= | CA1777329036 | ADRB3 | c.678G= (p.Arg226=) n.806G= c.162G= (p.Arg54=) | |
| 8 | g.37965792C>G | CA460494950 | ADRB3 | c.678G>C (p.Arg226=) n.806G>C c.162G>C (p.Arg54=) | gnomAD v4 |
| 8 | g.37965792C>T | CA460494952 | ADRB3 | c.678G>A (p.Arg226=) n.806G>A c.162G>A (p.Arg54=) | gnomAD v4 |
| 8 | g.37965793C>A | CA370694216 | ADRB3 | c.677G>T (p.Arg226Leu) n.805G>T c.161G>T (p.Arg54Leu) | gnomAD v4 |
| 8 | g.37965793C>G | CA370694214 | ADRB3 | c.677G>C (p.Arg226Pro) n.805G>C c.161G>C (p.Arg54Pro) | |
| 8 | g.37965793C>T | CA370694215 | ADRB3 | c.677G>A (p.Arg226Gln) n.805G>A c.161G>A (p.Arg54Gln) | |
| 8 | g.37965794del | CA2968109985 | ADRB3 | c.676del (p.Arg226GlyfsTer?) n.804del c.160del (p.Arg54GlyfsTer?) | |
| 8 | g.37965794G>A | CA370694217 | ADRB3 | c.676C>T (p.Arg226Trp) n.804C>T c.160C>T (p.Arg54Trp) | gnomAD v4 |
| 8 | g.37965794G>C | CA370694218 | ADRB3 | c.676C>G (p.Arg226Gly) n.804C>G c.160C>G (p.Arg54Gly) | |
| 8 | g.37965794G= | CA1777329038 | ADRB3 | c.676C= (p.Arg226=) n.804C= c.160C= (p.Arg54=) | |
| 8 | g.37965794G>T | CA460494956 | ADRB3 | c.676C>A (p.Arg226=) n.804C>A c.160C>A (p.Arg54=) | dbSNP gnomAD v4 |
| 8 | g.37965795C>A | CA460494962 | ADRB3 | c.675G>T (p.Ala225=) n.803G>T c.159G>T (p.Ala53=) | gnomAD v4 |
| 8 | g.37965795C>G | CA460494963 | ADRB3 | c.675G>C (p.Ala225=) n.803G>C c.159G>C (p.Ala53=) | |
| 8 | g.37965795C>T | CA460494964 | ADRB3 | c.675G>A (p.Ala225=) n.803G>A c.159G>A (p.Ala53=) | gnomAD v4 |
| 8 | g.37965796G>A | CA370694221 | ADRB3 | c.674C>T (p.Ala225Val) n.802C>T c.158C>T (p.Ala53Val) | gnomAD v4 |
| 8 | g.37965796G>C | CA370694225 | ADRB3 | c.674C>G (p.Ala225Gly) n.802C>G c.158C>G (p.Ala53Gly) | |
| 8 | g.37965796G= | CA1777329042 | ADRB3 | c.674C= (p.Ala225=) n.802C= c.158C= (p.Ala53=) | |
| 8 | g.37965796G>T | CA370694229 | ADRB3 | c.674C>A (p.Ala225Glu) n.802C>A c.158C>A (p.Ala53Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965797C>A | CA370694235 | ADRB3 | c.673G>T (p.Ala225Ser) n.801G>T c.157G>T (p.Ala53Ser) | gnomAD v4 |
| 8 | g.37965797C= | CA1777329046 | ADRB3 | c.673G= (p.Ala225=) n.801G= c.157G= (p.Ala53=) | |
| 8 | g.37965797C>G | CA370694238 | ADRB3 | c.673G>C (p.Ala225Pro) n.801G>C c.157G>C (p.Ala53Pro) | |
| 8 | g.37965797C>T | CA4714367 | ADRB3 | c.673G>A (p.Ala225Thr) n.801G>A c.157G>A (p.Ala53Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965798G>A | CA460494971 | ADRB3 | c.672C>T (p.Tyr224=) n.800C>T c.156C>T (p.Tyr52=) | gnomAD v4 |
| 8 | g.37965798G>C | CA370694241 | ADRB3 | c.672C>G (p.Tyr224Ter) n.800C>G c.156C>G (p.Tyr52Ter) | |
| 8 | g.37965798G= | CA1777329048 | ADRB3 | c.672C= (p.Tyr224=) n.800C= c.156C= (p.Tyr52=) | |
| 8 | g.37965798G>T | CA370694245 | ADRB3 | c.672C>A (p.Tyr224Ter) n.800C>A c.156C>A (p.Tyr52Ter) | dbSNP gnomAD v4 |
| 8 | g.37965798_37965799del | CA2968109991 | ADRB3 | c.671_672del (p.Tyr224CysfsTer?) n.799_800del c.155_156del (p.Tyr52CysfsTer?) | |
| 8 | g.37965799T>A | CA370694250 | ADRB3 | c.671A>T (p.Tyr224Phe) n.799A>T c.155A>T (p.Tyr52Phe) | |
| 8 | g.37965799T>C | CA370694251 | ADRB3 | c.671A>G (p.Tyr224Cys) n.799A>G c.155A>G (p.Tyr52Cys) | gnomAD v4 |
| 8 | g.37965799T>G | CA370694252 | ADRB3 | c.671A>C (p.Tyr224Ser) n.799A>C c.155A>C (p.Tyr52Ser) | gnomAD v4 |
| 8 | g.37965800A>C | CA370694253 | ADRB3 | c.670T>G (p.Tyr224Asp) n.798T>G c.154T>G (p.Tyr52Asp) | |
| 8 | g.37965800A>G | CA370694257 | ADRB3 | c.670T>C (p.Tyr224His) n.798T>C c.154T>C (p.Tyr52His) | gnomAD v4 |