SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965892_37965900del | CA2544682167 | ADRB3 | c.570_578del (p.His190_Pro193delinsGln) n.698_706del c.54_62del (p.His18_Pro21delinsGln) | |
| 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 |
| 8 | g.37965904_37965909del | CA2686921908 | ADRB3 | c.561_566del (p.Gln187_Cys189delinsHis) n.689_694del c.45_50del (p.Gln15_Cys17delinsHis) | gnomAD v4 |
| 8 | g.37965905A>C | CA370694869 | ADRB3 | c.565T>G (p.Cys189Gly) n.693T>G c.49T>G (p.Cys17Gly) | |
| 8 | g.37965905A>G | CA370694872 | ADRB3 | c.565T>C (p.Cys189Arg) n.693T>C c.49T>C (p.Cys17Arg) | |
| 8 | g.37965905A>T | CA370694874 | ADRB3 | c.565T>A (p.Cys189Ser) n.693T>A c.49T>A (p.Cys17Ser) | |
| 8 | g.37965905_37965906insAGGG | CA645566955 | ADRB3 | c.564_565insCCCT (p.Cys189ProfsTer?) n.692_693insCCCT c.48_49insCCCT (p.Cys17ProfsTer?) | COSMIC |
| 8 | g.37965905_37965906insCTCCAACCC | CA2553781638 | ADRB3 | c.564_565insGGGTTGGAG (p.Arg188_Cys189insGlyLeuGlu) n.692_693insGGGTTGGAG c.48_49insGGGTTGGAG (p.Arg16_Cys17insGlyLeuGlu) | |
| 8 | g.37965906G>A | CA460495119 | ADRB3 | c.564C>T (p.Arg188=) n.692C>T c.48C>T (p.Arg16=) | gnomAD v4 |
| 8 | g.37965906G>C | CA460495120 | ADRB3 | c.564C>G (p.Arg188=) n.692C>G c.48C>G (p.Arg16=) | |
| 8 | g.37965906G>T | CA460495121 | ADRB3 | c.564C>A (p.Arg188=) n.692C>A c.48C>A (p.Arg16=) | |
| 8 | g.37965906_37965909del | CA2686921909 | ADRB3 | c.561_564del (p.Gln187HisfsTer?) n.689_692del c.45_48del (p.Gln15HisfsTer?) | gnomAD v4 |
| 8 | g.37965907C>A | CA370694876 | ADRB3 | c.563G>T (p.Arg188Leu) n.691G>T c.47G>T (p.Arg16Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965907C= | CA1777329146 | ADRB3 | c.563G= (p.Arg188=) n.691G= c.47G= (p.Arg16=) | |
| 8 | g.37965907C>G | CA175071756 | ADRB3 | c.563G>C (p.Arg188Pro) n.691G>C c.47G>C (p.Arg16Pro) | dbSNP gnomAD v4 |
| 8 | g.37965907C>T | CA370694879 | ADRB3 | c.563G>A (p.Arg188His) n.691G>A c.47G>A (p.Arg16His) | gnomAD v4 |
| 8 | g.37965908G>A | CA370694887 | ADRB3 | c.562C>T (p.Arg188Cys) n.690C>T c.46C>T (p.Arg16Cys) | gnomAD v4 |
| 8 | g.37965908G>C | CA370694885 | ADRB3 | c.562C>G (p.Arg188Gly) n.690C>G c.46C>G (p.Arg16Gly) | gnomAD v4 |
| 8 | g.37965908G= | CA1777329147 | ADRB3 | c.562C= (p.Arg188=) n.690C= c.46C= (p.Arg16=) | |
| 8 | g.37965908G>T | CA370694882 | ADRB3 | c.562C>A (p.Arg188Ser) n.690C>A c.46C>A (p.Arg16Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965909C>A | CA370694890 | ADRB3 | c.561G>T (p.Gln187His) n.689G>T c.45G>T (p.Gln15His) | gnomAD v4 |
| 8 | g.37965909C>G | CA370694893 | ADRB3 | c.561G>C (p.Gln187His) n.689G>C c.45G>C (p.Gln15His) | gnomAD v4 |