Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.151181299C>A | CA519131622 | GPR50 | c.1716C>A (p.Thr572=) c.1710C>A (p.Thr570=) c.975C>A (p.Thr325=) | |
X | g.151181299C>G | CA519131624 | GPR50 | c.1716C>G (p.Thr572=) c.1710C>G (p.Thr570=) c.975C>G (p.Thr325=) | gnomAD v4 |
X | g.151181299C>T | CA519131625 | GPR50 | c.1716C>T (p.Thr572=) c.1710C>T (p.Thr570=) c.975C>T (p.Thr325=) | |
X | g.151181300A>C | CA415269957 | GPR50 | c.1717A>C (p.Lys573Gln) c.1711A>C (p.Lys571Gln) c.976A>C (p.Lys326Gln) | |
X | g.151181300A>G | CA415269955 | GPR50 | c.1717A>G (p.Lys573Glu) c.1711A>G (p.Lys571Glu) c.976A>G (p.Lys326Glu) | |
X | g.151181300A>T | CA415269956 | GPR50 | c.1717A>T (p.Lys573Ter) c.1711A>T (p.Lys571Ter) c.976A>T (p.Lys326Ter) | |
X | g.151181301A>C | CA415269958 | GPR50 | c.1718A>C (p.Lys573Thr) c.1712A>C (p.Lys571Thr) c.977A>C (p.Lys326Thr) | |
X | g.151181301A>G | CA415269959 | GPR50 | c.1718A>G (p.Lys573Arg) c.1712A>G (p.Lys571Arg) c.977A>G (p.Lys326Arg) | |
X | g.151181301A>T | CA415269960 | GPR50 | c.1718A>T (p.Lys573Met) c.1712A>T (p.Lys571Met) c.977A>T (p.Lys326Met) | |
X | g.151181302G>A | CA519131629 | GPR50 | c.1719G>A (p.Lys573=) c.1713G>A (p.Lys571=) c.978G>A (p.Lys326=) | |
X | g.151181302G>C | CA415269961 | GPR50 | c.1719G>C (p.Lys573Asn) c.1713G>C (p.Lys571Asn) c.978G>C (p.Lys326Asn) | |
X | g.151181302G>T | CA415269962 | GPR50 | c.1719G>T (p.Lys573Asn) c.1713G>T (p.Lys571Asn) c.978G>T (p.Lys326Asn) | |
X | g.151181303C>A | CA415269963 | GPR50 | c.1720C>A (p.Pro574Thr) c.1714C>A (p.Pro572Thr) c.979C>A (p.Pro327Thr) | dbSNP |
X | g.151181303C= | CA2465564792 | GPR50 | c.1720C= (p.Pro574=) c.1714C= (p.Pro572=) c.979C= (p.Pro327=) | |
X | g.151181303C>G | CA415269964 | GPR50 | c.1720C>G (p.Pro574Ala) c.1714C>G (p.Pro572Ala) c.979C>G (p.Pro327Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.151181303C>T | CA415269965 | GPR50 | c.1720C>T (p.Pro574Ser) c.1714C>T (p.Pro572Ser) c.979C>T (p.Pro327Ser) | |
X | g.151181304C>A | CA415269966 | GPR50 | c.1721C>A (p.Pro574His) c.1715C>A (p.Pro572His) c.980C>A (p.Pro327His) | |
X | g.151181304C>G | CA415269967 | GPR50 | c.1721C>G (p.Pro574Arg) c.1715C>G (p.Pro572Arg) c.980C>G (p.Pro327Arg) | |
X | g.151181304C>T | CA415269968 | GPR50 | c.1721C>T (p.Pro574Leu) c.1715C>T (p.Pro572Leu) c.980C>T (p.Pro327Leu) | |
X | g.151181305T>A | CA519131634 | GPR50 | c.1722T>A (p.Pro574=) c.1716T>A (p.Pro572=) c.981T>A (p.Pro327=) | |
X | g.151181305T>C | CA519131636 | GPR50 | c.1722T>C (p.Pro574=) c.1716T>C (p.Pro572=) c.981T>C (p.Pro327=) | |
X | g.151181305T>G | CA519131638 | GPR50 | c.1722T>G (p.Pro574=) c.1716T>G (p.Pro572=) c.981T>G (p.Pro327=) | |
X | g.151181306G>A | CA415269969 | GPR50 | c.1723G>A (p.Ala575Thr) c.1717G>A (p.Ala573Thr) c.982G>A (p.Ala328Thr) | COSMIC |
X | g.151181306G>C | CA415269971 | GPR50 | c.1723G>C (p.Ala575Pro) c.1717G>C (p.Ala573Pro) c.982G>C (p.Ala328Pro) | dbSNP |
X | g.151181306G= | CA2465564793 | GPR50 | c.1723G= (p.Ala575=) c.1717G= (p.Ala573=) c.982G= (p.Ala328=) | |
X | g.151181306G>T | CA415269970 | GPR50 | c.1723G>T (p.Ala575Ser) c.1717G>T (p.Ala573Ser) c.982G>T (p.Ala328Ser) | |
X | g.151181307C>A | CA415269972 | GPR50 | c.1724C>A (p.Ala575Asp) c.1718C>A (p.Ala573Asp) c.983C>A (p.Ala328Asp) | |
X | g.151181307C= | CA2465564794 | GPR50 | c.1724C= (p.Ala575=) c.1718C= (p.Ala573=) c.983C= (p.Ala328=) | |
X | g.151181307C>G | CA415269973 | GPR50 | c.1724C>G (p.Ala575Gly) c.1718C>G (p.Ala573Gly) c.983C>G (p.Ala328Gly) | |
X | g.151181307C>T | CA415269974 | GPR50 | c.1724C>T (p.Ala575Val) c.1718C>T (p.Ala573Val) c.983C>T (p.Ala328Val) | dbSNP gnomAD v4 |
X | g.151181308T>A | CA519131645 | GPR50 | c.1725T>A (p.Ala575=) c.1719T>A (p.Ala573=) c.984T>A (p.Ala328=) | |
X | g.151181308T>C | CA337198454 | GPR50 | c.1725T>C (p.Ala575=) c.1719T>C (p.Ala573=) c.984T>C (p.Ala328=) | dbSNP |
X | g.151181308T>G | CA519131644 | GPR50 | c.1725T>G (p.Ala575=) c.1719T>G (p.Ala573=) c.984T>G (p.Ala328=) | |
X | g.151181308T= | CA2465564795 | GPR50 | c.1725T= (p.Ala575=) c.1719T= (p.Ala573=) c.984T= (p.Ala328=) | |
X | g.151181309G>A | CA415269975 | GPR50 | c.1726G>A (p.Ala576Thr) c.1720G>A (p.Ala574Thr) c.985G>A (p.Ala329Thr) | gnomAD v4 |
X | g.151181309G>C | CA415269976 | GPR50 | c.1726G>C (p.Ala576Pro) c.1720G>C (p.Ala574Pro) c.985G>C (p.Ala329Pro) | |
X | g.151181309G>T | CA415269977 | GPR50 | c.1726G>T (p.Ala576Ser) c.1720G>T (p.Ala574Ser) c.985G>T (p.Ala329Ser) | |
X | g.151181310C>A | CA415269978 | GPR50 | c.1727C>A (p.Ala576Asp) c.1721C>A (p.Ala574Asp) c.986C>A (p.Ala329Asp) | gnomAD v4 |
X | g.151181310C= | CA2465564796 | GPR50 | c.1727C= (p.Ala576=) c.1721C= (p.Ala574=) c.986C= (p.Ala329=) | |
X | g.151181310C>G | CA415269979 | GPR50 | c.1727C>G (p.Ala576Gly) c.1721C>G (p.Ala574Gly) c.986C>G (p.Ala329Gly) | |
X | g.151181310C>T | CA415269980 | GPR50 | c.1727C>T (p.Ala576Val) c.1721C>T (p.Ala574Val) c.986C>T (p.Ala329Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.151181311C>A | CA519131649 | GPR50 | c.1728C>A (p.Ala576=) c.1722C>A (p.Ala574=) c.987C>A (p.Ala329=) | |
X | g.151181311C>G | CA519131652 | GPR50 | c.1728C>G (p.Ala576=) c.1722C>G (p.Ala574=) c.987C>G (p.Ala329=) | gnomAD v4 |
X | g.151181311C>T | CA519131654 | GPR50 | c.1728C>T (p.Ala576=) c.1722C>T (p.Ala574=) c.987C>T (p.Ala329=) | |
X | g.151181312A>C | CA415269983 | GPR50 | c.1729A>C (p.Ser577Arg) c.1723A>C (p.Ser575Arg) c.988A>C (p.Ser330Arg) | |
X | g.151181312A>G | CA415269982 | GPR50 | c.1729A>G (p.Ser577Gly) c.1723A>G (p.Ser575Gly) c.988A>G (p.Ser330Gly) | |
X | g.151181312A>T | CA415269981 | GPR50 | c.1729A>T (p.Ser577Cys) c.1723A>T (p.Ser575Cys) c.988A>T (p.Ser330Cys) | |
X | g.151181313G>A | CA10540477 | GPR50 | c.1730G>A (p.Ser577Asn) c.1724G>A (p.Ser575Asn) c.989G>A (p.Ser330Asn) | dbSNP ExAC gnomAD v2 |
X | g.151181313G>C | CA415269984 | GPR50 | c.1730G>C (p.Ser577Thr) c.1724G>C (p.Ser575Thr) c.989G>C (p.Ser330Thr) | |
X | g.151181313G= | CA2465564797 | GPR50 | c.1730G= (p.Ser577=) c.1724G= (p.Ser575=) c.989G= (p.Ser330=) |