Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.37965904dup | CA2968110107 | ADRB3 | c.566dup (p.Cys189TrpfsTer?) n.694dup c.50dup (p.Cys17TrpfsTer?) | |
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 |
8 | g.37965909C>T | CA460495126 | ADRB3 | c.561G>A (p.Gln187=) n.689G>A c.45G>A (p.Gln15=) | gnomAD v4 |
8 | g.37965910T>A | CA370694895 | ADRB3 | c.560A>T (p.Gln187Leu) n.688A>T c.44A>T (p.Gln15Leu) | |
8 | g.37965910T>C | CA370694897 | ADRB3 | c.560A>G (p.Gln187Arg) n.688A>G c.44A>G (p.Gln15Arg) | |
8 | g.37965910T>G | CA370694900 | ADRB3 | c.560A>C (p.Gln187Pro) n.688A>C c.44A>C (p.Gln15Pro) | gnomAD v4 |
8 | g.37965911G>A | CA370694902 | ADRB3 | c.559C>T (p.Gln187Ter) n.687C>T c.43C>T (p.Gln15Ter) | |
8 | g.37965911G>C | CA370694904 | ADRB3 | c.559C>G (p.Gln187Glu) n.687C>G c.43C>G (p.Gln15Glu) | |
8 | g.37965911G>T | CA370694906 | ADRB3 | c.559C>A (p.Gln187Lys) n.687C>A c.43C>A (p.Gln15Lys) | |
8 | g.37965911_37965914del | CA2686921910 | ADRB3 | c.556_559del (p.Ala186SerfsTer?) n.684_687del c.40_43del (p.Ala14SerfsTer?) | gnomAD v4 |
8 | g.37965912C>A | CA460495132 | ADRB3 | c.558G>T (p.Ala186=) n.686G>T c.42G>T (p.Ala14=) | dbSNP |
8 | g.37965912C= | CA1777329148 | ADRB3 | c.558G= (p.Ala186=) n.686G= c.42G= (p.Ala14=) | |
8 | g.37965912C>G | CA460495133 | ADRB3 | c.558G>C (p.Ala186=) n.686G>C c.42G>C (p.Ala14=) | |
8 | g.37965912C>T | CA460495134 | ADRB3 | c.558G>A (p.Ala186=) n.686G>A c.42G>A (p.Ala14=) | dbSNP gnomAD v2 |
8 | g.37965913G>A | CA370694908 | ADRB3 | c.557C>T (p.Ala186Val) n.685C>T c.41C>T (p.Ala14Val) | gnomAD v4 |
8 | g.37965913G>C | CA370694911 | ADRB3 | c.557C>G (p.Ala186Gly) n.685C>G c.41C>G (p.Ala14Gly) | |
8 | g.37965913G= | CA1777329149 | ADRB3 | c.557C= (p.Ala186=) n.685C= c.41C= (p.Ala14=) | |
8 | g.37965913G>T | CA4714380 | ADRB3 | c.557C>A (p.Ala186Glu) n.685C>A c.41C>A (p.Ala14Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965914C>A | CA370694919 | ADRB3 | c.556G>T (p.Ala186Ser) n.684G>T c.40G>T (p.Ala14Ser) | |
8 | g.37965914C>G | CA370694917 | ADRB3 | c.556G>C (p.Ala186Pro) n.684G>C c.40G>C (p.Ala14Pro) | |
8 | g.37965914C>T | CA370694915 | ADRB3 | c.556G>A (p.Ala186Thr) n.684G>A c.40G>A (p.Ala14Thr) | gnomAD v4 |
8 | g.37965915C>A | CA370694929 | ADRB3 | c.555G>T (p.Glu185Asp) n.683G>T c.39G>T (p.Glu13Asp) | |
8 | g.37965915C>G | CA370694930 | ADRB3 | c.555G>C (p.Glu185Asp) n.683G>C c.39G>C (p.Glu13Asp) | |
8 | g.37965915C>T | CA460495138 | ADRB3 | c.555G>A (p.Glu185=) n.683G>A c.39G>A (p.Glu13=) |