Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
8 | g.37965919G>T | CA370694952 | ADRB3 | c.551C>A (p.Ala184Asp) n.679C>A c.35C>A (p.Ala12Asp) | gnomAD v4 |
8 | g.37965919_37965920insT | CA2686921911 | ADRB3 | c.550_551insA (p.Ala184AspfsTer?) n.678_679insA c.34_35insA (p.Ala12AspfsTer?) | gnomAD v4 |
8 | g.37965920C>A | CA370694953 | ADRB3 | c.550G>T (p.Ala184Ser) n.678G>T c.34G>T (p.Ala12Ser) | |
8 | g.37965920C= | CA1777329152 | ADRB3 | c.550G= (p.Ala184=) n.678G= c.34G= (p.Ala12=) | |
8 | g.37965920C>G | CA370694955 | ADRB3 | c.550G>C (p.Ala184Pro) n.678G>C c.34G>C (p.Ala12Pro) | gnomAD v4 |
8 | g.37965920C>T | CA370694956 | ADRB3 | c.550G>A (p.Ala184Thr) n.678G>A c.34G>A (p.Ala12Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965921G>A | CA460495148 | ADRB3 | c.549C>T (p.Asp183=) n.677C>T c.33C>T (p.Asp11=) | |
8 | g.37965921G>C | CA370694959 | ADRB3 | c.549C>G (p.Asp183Glu) n.677C>G c.33C>G (p.Asp11Glu) | |
8 | g.37965921G>T | CA370694958 | ADRB3 | c.549C>A (p.Asp183Glu) n.677C>A c.33C>A (p.Asp11Glu) | |
8 | g.37965922T>A | CA370694961 | ADRB3 | c.548A>T (p.Asp183Val) n.676A>T c.32A>T (p.Asp11Val) | |
8 | g.37965922T>C | CA370694962 | ADRB3 | c.548A>G (p.Asp183Gly) n.676A>G c.32A>G (p.Asp11Gly) | |
8 | g.37965922T>G | CA370694964 | ADRB3 | c.548A>C (p.Asp183Ala) n.676A>C c.32A>C (p.Asp11Ala) | |
8 | g.37965923C>A | CA370694966 | ADRB3 | c.547G>T (p.Asp183Tyr) n.675G>T c.31G>T (p.Asp11Tyr) | |
8 | g.37965923C= | CA1777329153 | ADRB3 | c.547G= (p.Asp183=) n.675G= c.31G= (p.Asp11=) | |
8 | g.37965923C>G | CA370694968 | ADRB3 | c.547G>C (p.Asp183His) n.675G>C c.31G>C (p.Asp11His) | gnomAD v4 |
8 | g.37965923C>T | CA370694973 | ADRB3 | c.547G>A (p.Asp183Asn) n.675G>A c.31G>A (p.Asp11Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965924G>A | CA4714382 | ADRB3 | c.546C>T (p.Ala182=) n.674C>T c.30C>T (p.Ala10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965924G>C | CA460495151 | ADRB3 | c.546C>G (p.Ala182=) n.674C>G c.30C>G (p.Ala10=) | gnomAD v4 |
8 | g.37965924G= | CA1777329154 | ADRB3 | c.546C= (p.Ala182=) n.674C= c.30C= (p.Ala10=) |