| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965781A>C | CA370694117 | ADRB3 | c.689T>G (p.Val230Gly) n.817T>G c.173T>G (p.Val58Gly) | |
| 8 | g.37965781A>G | CA370694118 | ADRB3 | c.689T>C (p.Val230Ala) n.817T>C c.173T>C (p.Val58Ala) | |
| 8 | g.37965781A>T | CA370694135 | ADRB3 | c.689T>A (p.Val230Glu) n.817T>A c.173T>A (p.Val58Glu) | |
| 8 | g.37965782C>A | CA370694153 | ADRB3 | c.688G>T (p.Val230Leu) n.816G>T c.172G>T (p.Val58Leu) | |
| 8 | g.37965782C>G | CA370694144 | ADRB3 | c.688G>C (p.Val230Leu) n.816G>C c.172G>C (p.Val58Leu) | |
| 8 | g.37965782C>T | CA370694147 | ADRB3 | c.688G>A (p.Val230Met) n.816G>A c.172G>A (p.Val58Met) | |
| 8 | g.37965783del | CA2779761120 | ADRB3 | c.688del (p.Val230TrpfsTer?) n.816del c.172del (p.Val58TrpfsTer?) | |
| 8 | g.37965783C>A | CA460494928 | ADRB3 | c.687G>T (p.Val229=) n.815G>T c.171G>T (p.Val57=) | |
| 8 | g.37965783C>G | CA460494929 | ADRB3 | c.687G>C (p.Val229=) n.815G>C c.171G>C (p.Val57=) | |
| 8 | g.37965783C>T | CA460494930 | ADRB3 | c.687G>A (p.Val229=) n.815G>A c.171G>A (p.Val57=) | gnomAD v4 |
| 8 | g.37965784A>C | CA370694155 | ADRB3 | c.686T>G (p.Val229Gly) n.814T>G c.170T>G (p.Val57Gly) | |
| 8 | g.37965784A>G | CA370694157 | ADRB3 | c.686T>C (p.Val229Ala) n.814T>C c.170T>C (p.Val57Ala) | gnomAD v4 |
| 8 | g.37965784A>T | CA370694165 | ADRB3 | c.686T>A (p.Val229Glu) n.814T>A c.170T>A (p.Val57Glu) | |
| 8 | g.37965785C>A | CA370694167 | ADRB3 | c.685G>T (p.Val229Leu) n.813G>T c.169G>T (p.Val57Leu) | gnomAD v4 |
| 8 | g.37965785C= | CA1777329022 | ADRB3 | c.685G= (p.Val229=) n.813G= c.169G= (p.Val57=) | |
| 8 | g.37965785C>G | CA370694169 | ADRB3 | c.685G>C (p.Val229Leu) n.813G>C c.169G>C (p.Val57Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965785C>T | CA175071603 | ADRB3 | c.685G>A (p.Val229Met) n.813G>A c.169G>A (p.Val57Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965786G>A | CA460494937 | ADRB3 | c.684C>T (p.Phe228=) n.812C>T c.168C>T (p.Phe56=) | gnomAD v4 |
| 8 | g.37965786G>C | CA370694173 | ADRB3 | c.684C>G (p.Phe228Leu) n.812C>G c.168C>G (p.Phe56Leu) | |
| 8 | g.37965786G>T | CA370694175 | ADRB3 | c.684C>A (p.Phe228Leu) n.812C>A c.168C>A (p.Phe56Leu) | gnomAD v4 |
| 8 | g.37965786_37965788delinsGAA | CA1777329026 | ADRB3 | c.682_684delinsTTC (p.Phe228=) n.810_812delinsTTC c.166_168delinsTTC (p.Phe56=) | |
| 8 | g.37965787A= | CA1777329028 | ADRB3 | c.683T= (p.Phe228=) n.811T= c.167T= (p.Phe56=) | |
| 8 | g.37965787A>C | CA370694178 | ADRB3 | c.683T>G (p.Phe228Cys) n.811T>G c.167T>G (p.Phe56Cys) | |
| 8 | g.37965787A>G | CA370694179 | ADRB3 | c.683T>C (p.Phe228Ser) n.811T>C c.167T>C (p.Phe56Ser) | dbSNP |
| 8 | g.37965787A>T | CA370694181 | ADRB3 | c.683T>A (p.Phe228Tyr) n.811T>A c.167T>A (p.Phe56Tyr) | |
| 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 |