Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.37965880_37965894del | CA2686921904 | ADRB3 | c.577_591del (p.Pro193_Ala197del) n.705_719del c.61_75del (p.Pro21_Ala25del) | gnomAD v4 |
8 | g.37965892G>A | CA4714377 | ADRB3 | c.578C>T (p.Pro193Leu) n.706C>T c.62C>T (p.Pro21Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965892G>C | CA370694778 | ADRB3 | c.578C>G (p.Pro193Arg) n.706C>G c.62C>G (p.Pro21Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.37965892G= | CA1777329140 | ADRB3 | c.578C= (p.Pro193=) n.706C= c.62C= (p.Pro21=) | |
8 | g.37965892G>T | CA370694783 | ADRB3 | c.578C>A (p.Pro193Gln) n.706C>A c.62C>A (p.Pro21Gln) | gnomAD v4 |
8 | g.37965894del | CA2686921905 | ADRB3 | c.578del (p.Pro193ArgfsTer27) n.706del c.62del (p.Pro21ArgfsTer27) | gnomAD v4 |
8 | g.37965892_37965900del | CA2544682167 | ADRB3 | c.570_578del (p.His190_Pro193delinsGln) n.698_706del c.54_62del (p.His18_Pro21delinsGln) | |
8 | g.37965893G>A | CA370694790 | ADRB3 | c.577C>T (p.Pro193Ser) n.705C>T c.61C>T (p.Pro21Ser) | dbSNP gnomAD v4 |
8 | g.37965893G>C | CA370694787 | ADRB3 | c.577C>G (p.Pro193Ala) n.705C>G c.61C>G (p.Pro21Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965893G= | CA1777329141 | ADRB3 | c.577C= (p.Pro193=) n.705C= c.61C= (p.Pro21=) | |
8 | g.37965893G>T | CA370694785 | ADRB3 | c.577C>A (p.Pro193Thr) n.705C>A c.61C>A (p.Pro21Thr) | |
8 | g.37965894G>A | CA4714378 | ADRB3 | c.576C>T (p.Asn192=) n.704C>T c.60C>T (p.Asn20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.37965894G>C | CA370694793 | ADRB3 | c.576C>G (p.Asn192Lys) n.704C>G c.60C>G (p.Asn20Lys) | |
8 | g.37965894G= | CA1777329142 | ADRB3 | c.576C= (p.Asn192=) n.704C= c.60C= (p.Asn20=) | |
8 | g.37965894G>T | CA370694795 | ADRB3 | c.576C>A (p.Asn192Lys) n.704C>A c.60C>A (p.Asn20Lys) | gnomAD v4 |
8 | g.37965895T>A | CA370694798 | ADRB3 | c.575A>T (p.Asn192Ile) n.703A>T c.59A>T (p.Asn20Ile) | |
8 | g.37965895T>C | CA370694809 | ADRB3 | c.575A>G (p.Asn192Ser) n.703A>G c.59A>G (p.Asn20Ser) | gnomAD v4 |
8 | g.37965895T>G | CA370694812 | ADRB3 | c.575A>C (p.Asn192Thr) n.703A>C c.59A>C (p.Asn20Thr) | |
8 | g.37965896T>A | CA370694814 | ADRB3 | c.574A>T (p.Asn192Tyr) n.702A>T c.58A>T (p.Asn20Tyr) | |
8 | g.37965896T>C | CA370694816 | ADRB3 | c.574A>G (p.Asn192Asp) n.702A>G c.58A>G (p.Asn20Asp) | |
8 | g.37965896T>G | CA370694815 | ADRB3 | c.574A>C (p.Asn192His) n.702A>C c.58A>C (p.Asn20His) | |
8 | g.37965897G>A | CA460495107 | ADRB3 | c.573C>T (p.Ser191=) n.701C>T c.57C>T (p.Ser19=) | dbSNP gnomAD v2 |
8 | g.37965897G>C | CA460495108 | ADRB3 | c.573C>G (p.Ser191=) n.701C>G c.57C>G (p.Ser19=) | |
8 | g.37965897G= | CA1777329143 | ADRB3 | c.573C= (p.Ser191=) n.701C= c.57C= (p.Ser19=) | |
8 | g.37965897G>T | CA460495109 | ADRB3 | c.573C>A (p.Ser191=) n.701C>A c.57C>A (p.Ser19=) | |
8 | g.37965898G>A | CA370694817 | ADRB3 | c.572C>T (p.Ser191Phe) n.700C>T c.56C>T (p.Ser19Phe) | |
8 | g.37965898G>C | CA370694820 | ADRB3 | c.572C>G (p.Ser191Cys) n.700C>G c.56C>G (p.Ser19Cys) | |
8 | g.37965898G>T | CA370694825 | ADRB3 | c.572C>A (p.Ser191Tyr) n.700C>A c.56C>A (p.Ser19Tyr) | |
8 | g.37965899A>C | CA370694826 | ADRB3 | c.571T>G (p.Ser191Ala) n.699T>G c.55T>G (p.Ser19Ala) | |
8 | g.37965899A>G | CA370694827 | ADRB3 | c.571T>C (p.Ser191Pro) n.699T>C c.55T>C (p.Ser19Pro) | |
8 | g.37965899A>T | CA370694835 | ADRB3 | c.571T>A (p.Ser191Thr) n.699T>A c.55T>A (p.Ser19Thr) | |
8 | g.37965900G>A | CA460495111 | ADRB3 | c.570C>T (p.His190=) n.698C>T c.54C>T (p.His18=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965900G>C | CA4714379 | ADRB3 | c.570C>G (p.His190Gln) n.698C>G c.54C>G (p.His18Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965900G= | CA1777329144 | ADRB3 | c.570C= (p.His190=) n.698C= c.54C= (p.His18=) | |
8 | g.37965900G>T | CA370694838 | ADRB3 | c.570C>A (p.His190Gln) n.698C>A c.54C>A (p.His18Gln) | |
8 | g.37965901T>A | CA370694841 | ADRB3 | c.569A>T (p.His190Leu) n.697A>T c.53A>T (p.His18Leu) | gnomAD v4 |
8 | g.37965901T>C | CA370694845 | ADRB3 | c.569A>G (p.His190Arg) n.697A>G c.53A>G (p.His18Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.37965901T>G | CA370694849 | ADRB3 | c.569A>C (p.His190Pro) n.697A>C c.53A>C (p.His18Pro) | dbSNP |
8 | g.37965901T= | CA1777329145 | ADRB3 | c.569A= (p.His190=) n.697A= c.53A= (p.His18=) | |
8 | g.37965902G>A | CA370694852 | ADRB3 | c.568C>T (p.His190Tyr) n.696C>T c.52C>T (p.His18Tyr) | |
8 | g.37965902G>C | CA370694857 | ADRB3 | c.568C>G (p.His190Asp) n.696C>G c.52C>G (p.His18Asp) | |
8 | g.37965902G>T | CA370694855 | ADRB3 | c.568C>A (p.His190Asn) n.696C>A c.52C>A (p.His18Asn) | |
8 | g.37965902_37965903insTA | CA2686921906 | ADRB3 | c.567_568insTA (p.His190TyrfsTer?) n.695_696insTA c.51_52insTA (p.His18TyrfsTer?) | gnomAD v4 |
8 | g.37965903G>A | CA460495114 | ADRB3 | c.567C>T (p.Cys189=) n.695C>T c.51C>T (p.Cys17=) | |
8 | g.37965903G>C | CA370694860 | ADRB3 | c.567C>G (p.Cys189Trp) n.695C>G c.51C>G (p.Cys17Trp) | gnomAD v4 |
8 | g.37965903G>T | CA370694861 | ADRB3 | c.567C>A (p.Cys189Ter) n.695C>A c.51C>A (p.Cys17Ter) | gnomAD v4 |
8 | g.37965904del | CA2686921907 | ADRB3 | c.566del (p.Cys189SerfsTer?) n.694del c.50del (p.Cys17SerfsTer?) | gnomAD v4 |
8 | g.37965904C>A | CA370694864 | ADRB3 | c.566G>T (p.Cys189Phe) n.694G>T c.50G>T (p.Cys17Phe) | |
8 | g.37965904C>G | CA370694865 | ADRB3 | c.566G>C (p.Cys189Ser) n.694G>C c.50G>C (p.Cys17Ser) | |
8 | g.37965904C>T | CA370694867 | ADRB3 | c.566G>A (p.Cys189Tyr) n.694G>A c.50G>A (p.Cys17Tyr) | gnomAD v4 |