Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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=) | |
8 | g.37965916T>A | CA370694933 | ADRB3 | c.554A>T (p.Glu185Val) n.682A>T c.38A>T (p.Glu13Val) | |
8 | g.37965916T>C | CA370694936 | ADRB3 | c.554A>G (p.Glu185Gly) n.682A>G c.38A>G (p.Glu13Gly) | |
8 | g.37965916T>G | CA370694937 | ADRB3 | c.554A>C (p.Glu185Ala) n.682A>C c.38A>C (p.Glu13Ala) | |
8 | g.37965917C>A | CA175071758 | ADRB3 | c.553G>T (p.Glu185Ter) n.681G>T c.37G>T (p.Glu13Ter) | dbSNP gnomAD v4 |
8 | g.37965917C= | CA1777329150 | ADRB3 | c.553G= (p.Glu185=) n.681G= c.37G= (p.Glu13=) | |
8 | g.37965917C>G | CA370694942 | ADRB3 | c.553G>C (p.Glu185Gln) n.681G>C c.37G>C (p.Glu13Gln) | gnomAD v4 |
8 | g.37965917C>T | CA370694944 | ADRB3 | c.553G>A (p.Glu185Lys) n.681G>A c.37G>A (p.Glu13Lys) | gnomAD v4 |
8 | g.37965918G>A | CA460495140 | ADRB3 | c.552C>T (p.Ala184=) n.680C>T c.36C>T (p.Ala12=) | gnomAD v4 |
8 | g.37965918G>C | CA4714381 | ADRB3 | c.552C>G (p.Ala184=) n.680C>G c.36C>G (p.Ala12=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965918G= | CA1777329151 | ADRB3 | c.552C= (p.Ala184=) n.680C= c.36C= (p.Ala12=) | |
8 | g.37965918G>T | CA460495144 | ADRB3 | c.552C>A (p.Ala184=) n.680C>A c.36C>A (p.Ala12=) | |
8 | g.37965919G>A | CA370694949 | ADRB3 | c.551C>T (p.Ala184Val) n.679C>T c.35C>T (p.Ala12Val) | COSMIC |
8 | g.37965919G>C | CA370694950 | ADRB3 | c.551C>G (p.Ala184Gly) n.679C>G c.35C>G (p.Ala12Gly) |