Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42323012T>A | CA399582682 | STAT3 | c.1880A>T (p.Asp627Val) c.*272A>T (n.*272A>T) c.1853A>T (p.Asp618Val) n.1333A>T c.*268A>T (n.*268A>T) c.1976A>T (p.Asp659Val) n.2080A>T c.1859A>T (p.Asp620Val) c.1796A>T (p.Asp599Val) c.1895A>T (p.Asp632Val) n.2317A>T c.1784A>T (p.Asp595Val) n.2297A>T n.2123A>T c.1586A>T (p.Asp529Val) c.1802A>T (p.Asp601Val) c.1820A>T (p.Asp607Val) | dbSNP |
17 | g.42323012T>C | CA399582684 | STAT3 | c.1880A>G (p.Asp627Gly) c.*272A>G (n.*272A>G) c.1853A>G (p.Asp618Gly) n.1333A>G c.*268A>G (n.*268A>G) c.1976A>G (p.Asp659Gly) n.2080A>G c.1859A>G (p.Asp620Gly) c.1796A>G (p.Asp599Gly) c.1895A>G (p.Asp632Gly) n.2317A>G c.1784A>G (p.Asp595Gly) n.2297A>G n.2123A>G c.1586A>G (p.Asp529Gly) c.1802A>G (p.Asp601Gly) c.1820A>G (p.Asp607Gly) | dbSNP |
17 | g.42323012T>G | CA399582685 | STAT3 | c.1880A>C (p.Asp627Ala) c.*272A>C (n.*272A>C) c.1853A>C (p.Asp618Ala) n.1333A>C c.*268A>C (n.*268A>C) c.1976A>C (p.Asp659Ala) n.2080A>C c.1859A>C (p.Asp620Ala) c.1796A>C (p.Asp599Ala) c.1895A>C (p.Asp632Ala) n.2317A>C c.1784A>C (p.Asp595Ala) n.2297A>C n.2123A>C c.1586A>C (p.Asp529Ala) c.1802A>C (p.Asp601Ala) c.1820A>C (p.Asp607Ala) | dbSNP |
17 | g.42323013C>A | CA399582688 | STAT3 | c.1879G>T (p.Asp627Tyr) c.*271G>T (n.*271G>T) c.1852G>T (p.Asp618Tyr) n.1332G>T c.*267G>T (n.*267G>T) c.1975G>T (p.Asp659Tyr) n.2079G>T c.1858G>T (p.Asp620Tyr) c.1795G>T (p.Asp599Tyr) c.1894G>T (p.Asp632Tyr) n.2316G>T c.1783G>T (p.Asp595Tyr) n.2296G>T n.2122G>T c.1585G>T (p.Asp529Tyr) c.1801G>T (p.Asp601Tyr) c.1819G>T (p.Asp607Tyr) | dbSNP |
17 | g.42323013C>G | CA399582690 | STAT3 | c.1879G>C (p.Asp627His) c.*271G>C (n.*271G>C) c.1852G>C (p.Asp618His) n.1332G>C c.*267G>C (n.*267G>C) c.1975G>C (p.Asp659His) n.2079G>C c.1858G>C (p.Asp620His) c.1795G>C (p.Asp599His) c.1894G>C (p.Asp632His) n.2316G>C c.1783G>C (p.Asp595His) n.2296G>C n.2122G>C c.1585G>C (p.Asp529His) c.1801G>C (p.Asp601His) c.1819G>C (p.Asp607His) | dbSNP |
17 | g.42323013C>T | CA399582692 | STAT3 | c.1879G>A (p.Asp627Asn) c.*271G>A (n.*271G>A) c.1852G>A (p.Asp618Asn) n.1332G>A c.*267G>A (n.*267G>A) c.1975G>A (p.Asp659Asn) n.2079G>A c.1858G>A (p.Asp620Asn) c.1795G>A (p.Asp599Asn) c.1894G>A (p.Asp632Asn) n.2316G>A c.1783G>A (p.Asp595Asn) n.2296G>A n.2122G>A c.1585G>A (p.Asp529Asn) c.1801G>A (p.Asp601Asn) c.1819G>A (p.Asp607Asn) | dbSNP |
17 | g.42323014C>A | CA399582695 | STAT3 | c.1878G>T (p.Lys626Asn) c.*270G>T (n.*270G>T) c.1851G>T (p.Lys617Asn) n.1331G>T c.*266G>T (n.*266G>T) c.1974G>T (p.Lys658Asn) n.2078G>T c.1857G>T (p.Lys619Asn) c.1794G>T (p.Lys598Asn) c.1893G>T (p.Lys631Asn) n.2315G>T c.1782G>T (p.Lys594Asn) n.2295G>T n.2121G>T c.1584G>T (p.Lys528Asn) c.1800G>T (p.Lys600Asn) c.1818G>T (p.Lys606Asn) | dbSNP |
17 | g.42323014C= | CA2260430971 | STAT3 | c.1878G= (p.Lys626=) c.*270G= (n.*270G=) c.1851G= (p.Lys617=) n.1331G= c.*266G= (n.*266G=) c.1974G= (p.Lys658=) n.2078G= c.1857G= (p.Lys619=) c.1794G= (p.Lys598=) c.1893G= (p.Lys631=) n.2315G= c.1782G= (p.Lys594=) n.2295G= n.2121G= c.1584G= (p.Lys528=) c.1800G= (p.Lys600=) c.1818G= (p.Lys606=) | |
17 | g.42323014C>G | CA399582697 | STAT3 | c.1878G>C (p.Lys626Asn) c.*270G>C (n.*270G>C) c.1851G>C (p.Lys617Asn) n.1331G>C c.*266G>C (n.*266G>C) c.1974G>C (p.Lys658Asn) n.2078G>C c.1857G>C (p.Lys619Asn) c.1794G>C (p.Lys598Asn) c.1893G>C (p.Lys631Asn) n.2315G>C c.1782G>C (p.Lys594Asn) n.2295G>C n.2121G>C c.1584G>C (p.Lys528Asn) c.1800G>C (p.Lys600Asn) c.1818G>C (p.Lys606Asn) | |
17 | g.42323014C>T | CA8575204 | STAT3 | c.1878G>A (p.Lys626=) c.*270G>A (n.*270G>A) c.1851G>A (p.Lys617=) n.1331G>A c.*266G>A (n.*266G>A) c.1974G>A (p.Lys658=) n.2078G>A c.1857G>A (p.Lys619=) c.1794G>A (p.Lys598=) c.1893G>A (p.Lys631=) n.2315G>A c.1782G>A (p.Lys594=) n.2295G>A n.2121G>A c.1584G>A (p.Lys528=) c.1800G>A (p.Lys600=) c.1818G>A (p.Lys606=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42323016_42323018del | CA2637933215 | STAT3 | c.1876_1878del (p.Lys626del) c.*268_*270del (n.*268_*270del) c.1849_1851del (p.Lys617del) n.1329_1331del c.*264_*266del (n.*264_*266del) c.1972_1974del (p.Lys658del) n.2076_2078del c.1855_1857del (p.Lys619del) c.1792_1794del (p.Lys598del) c.1891_1893del (p.Lys631del) n.2313_2315del c.1780_1782del (p.Lys594del) n.2293_2295del n.2119_2121del c.1582_1584del (p.Lys528del) c.1798_1800del (p.Lys600del) c.1816_1818del (p.Lys606del) | gnomAD v4 |
17 | g.42323015T>A | CA399582700 | STAT3 | c.1877A>T (p.Lys626Met) c.*269A>T (n.*269A>T) c.1850A>T (p.Lys617Met) n.1330A>T c.*265A>T (n.*265A>T) c.1973A>T (p.Lys658Met) n.2077A>T c.1856A>T (p.Lys619Met) c.1793A>T (p.Lys598Met) c.1892A>T (p.Lys631Met) n.2314A>T c.1781A>T (p.Lys594Met) n.2294A>T n.2120A>T c.1583A>T (p.Lys528Met) c.1799A>T (p.Lys600Met) c.1817A>T (p.Lys606Met) | |
17 | g.42323015T>C | CA399582704 | STAT3 | c.1877A>G (p.Lys626Arg) c.*269A>G (n.*269A>G) c.1850A>G (p.Lys617Arg) n.1330A>G c.*265A>G (n.*265A>G) c.1973A>G (p.Lys658Arg) n.2077A>G c.1856A>G (p.Lys619Arg) c.1793A>G (p.Lys598Arg) c.1892A>G (p.Lys631Arg) n.2314A>G c.1781A>G (p.Lys594Arg) n.2294A>G n.2120A>G c.1583A>G (p.Lys528Arg) c.1799A>G (p.Lys600Arg) c.1817A>G (p.Lys606Arg) | dbSNP |
17 | g.42323015T>G | CA399582702 | STAT3 | c.1877A>C (p.Lys626Thr) c.*269A>C (n.*269A>C) c.1850A>C (p.Lys617Thr) n.1330A>C c.*265A>C (n.*265A>C) c.1973A>C (p.Lys658Thr) n.2077A>C c.1856A>C (p.Lys619Thr) c.1793A>C (p.Lys598Thr) c.1892A>C (p.Lys631Thr) n.2314A>C c.1781A>C (p.Lys594Thr) n.2294A>C n.2120A>C c.1583A>C (p.Lys528Thr) c.1799A>C (p.Lys600Thr) c.1817A>C (p.Lys606Thr) | gnomAD v4 |
17 | g.42323016T>A | CA399582707 | STAT3 | c.1876A>T (p.Lys626Ter) c.*268A>T (n.*268A>T) c.1849A>T (p.Lys617Ter) n.1329A>T c.*264A>T (n.*264A>T) c.1972A>T (p.Lys658Ter) n.2076A>T c.1855A>T (p.Lys619Ter) c.1792A>T (p.Lys598Ter) c.1891A>T (p.Lys631Ter) n.2313A>T c.1780A>T (p.Lys594Ter) n.2293A>T n.2119A>T c.1582A>T (p.Lys528Ter) c.1798A>T (p.Lys600Ter) c.1816A>T (p.Lys606Ter) | |
17 | g.42323016T>C | CA399582709 | STAT3 | c.1876A>G (p.Lys626Glu) c.*268A>G (n.*268A>G) c.1849A>G (p.Lys617Glu) n.1329A>G c.*264A>G (n.*264A>G) c.1972A>G (p.Lys658Glu) n.2076A>G c.1855A>G (p.Lys619Glu) c.1792A>G (p.Lys598Glu) c.1891A>G (p.Lys631Glu) n.2313A>G c.1780A>G (p.Lys594Glu) n.2293A>G n.2119A>G c.1582A>G (p.Lys528Glu) c.1798A>G (p.Lys600Glu) c.1816A>G (p.Lys606Glu) | |
17 | g.42323016T>G | CA399582710 | STAT3 | c.1876A>C (p.Lys626Gln) c.*268A>C (n.*268A>C) c.1849A>C (p.Lys617Gln) n.1329A>C c.*264A>C (n.*264A>C) c.1972A>C (p.Lys658Gln) n.2076A>C c.1855A>C (p.Lys619Gln) c.1792A>C (p.Lys598Gln) c.1891A>C (p.Lys631Gln) n.2313A>C c.1780A>C (p.Lys594Gln) n.2293A>C n.2119A>C c.1582A>C (p.Lys528Gln) c.1798A>C (p.Lys600Gln) c.1816A>C (p.Lys606Gln) | |
17 | g.42323017C>A | CA399582713 | STAT3 | c.1875G>T (p.Glu625Asp) c.*267G>T (n.*267G>T) c.1848G>T (p.Glu616Asp) n.1328G>T c.*263G>T (n.*263G>T) c.1971G>T (p.Glu657Asp) n.2075G>T c.1854G>T (p.Glu618Asp) c.1791G>T (p.Glu597Asp) c.1890G>T (p.Glu630Asp) n.2312G>T c.1779G>T (p.Glu593Asp) n.2292G>T n.2118G>T c.1581G>T (p.Glu527Asp) c.1797G>T (p.Glu599Asp) c.1815G>T (p.Glu605Asp) | |
17 | g.42323017C>G | CA399582715 | STAT3 | c.1875G>C (p.Glu625Asp) c.*267G>C (n.*267G>C) c.1848G>C (p.Glu616Asp) n.1328G>C c.*263G>C (n.*263G>C) c.1971G>C (p.Glu657Asp) n.2075G>C c.1854G>C (p.Glu618Asp) c.1791G>C (p.Glu597Asp) c.1890G>C (p.Glu630Asp) n.2312G>C c.1779G>C (p.Glu593Asp) n.2292G>C n.2118G>C c.1581G>C (p.Glu527Asp) c.1797G>C (p.Glu599Asp) c.1815G>C (p.Glu605Asp) | |
17 | g.42323017C>T | CA500061168 | STAT3 | c.1875G>A (p.Glu625=) c.*267G>A (n.*267G>A) c.1848G>A (p.Glu616=) n.1328G>A c.*263G>A (n.*263G>A) c.1971G>A (p.Glu657=) n.2075G>A c.1854G>A (p.Glu618=) c.1791G>A (p.Glu597=) c.1890G>A (p.Glu630=) n.2312G>A c.1779G>A (p.Glu593=) n.2292G>A n.2118G>A c.1581G>A (p.Glu527=) c.1797G>A (p.Glu599=) c.1815G>A (p.Glu605=) | |
17 | g.42323018T>A | CA399582717 | STAT3 | c.1874A>T (p.Glu625Val) c.*266A>T (n.*266A>T) c.1847A>T (p.Glu616Val) n.1327A>T c.*262A>T (n.*262A>T) c.1970A>T (p.Glu657Val) n.2074A>T c.1853A>T (p.Glu618Val) c.1790A>T (p.Glu597Val) c.1889A>T (p.Glu630Val) n.2311A>T c.1778A>T (p.Glu593Val) n.2291A>T n.2117A>T c.1580A>T (p.Glu527Val) c.1796A>T (p.Glu599Val) c.1814A>T (p.Glu605Val) | |
17 | g.42323018T>C | CA399582718 | STAT3 | c.1874A>G (p.Glu625Gly) c.*266A>G (n.*266A>G) c.1847A>G (p.Glu616Gly) n.1327A>G c.*262A>G (n.*262A>G) c.1970A>G (p.Glu657Gly) n.2074A>G c.1853A>G (p.Glu618Gly) c.1790A>G (p.Glu597Gly) c.1889A>G (p.Glu630Gly) n.2311A>G c.1778A>G (p.Glu593Gly) n.2291A>G n.2117A>G c.1580A>G (p.Glu527Gly) c.1796A>G (p.Glu599Gly) c.1814A>G (p.Glu605Gly) | |
17 | g.42323018T>G | CA399582719 | STAT3 | c.1874A>C (p.Glu625Ala) c.*266A>C (n.*266A>C) c.1847A>C (p.Glu616Ala) n.1327A>C c.*262A>C (n.*262A>C) c.1970A>C (p.Glu657Ala) n.2074A>C c.1853A>C (p.Glu618Ala) c.1790A>C (p.Glu597Ala) c.1889A>C (p.Glu630Ala) n.2311A>C c.1778A>C (p.Glu593Ala) n.2291A>C n.2117A>C c.1580A>C (p.Glu527Ala) c.1796A>C (p.Glu599Ala) c.1814A>C (p.Glu605Ala) | |
17 | g.42323019C>A | CA399582721 | STAT3 | c.1873G>T (p.Glu625Ter) c.*265G>T (n.*265G>T) c.1846G>T (p.Glu616Ter) n.1326G>T c.*261G>T (n.*261G>T) c.1969G>T (p.Glu657Ter) n.2073G>T c.1852G>T (p.Glu618Ter) c.1789G>T (p.Glu597Ter) c.1888G>T (p.Glu630Ter) n.2310G>T c.1777G>T (p.Glu593Ter) n.2290G>T n.2116G>T c.1579G>T (p.Glu527Ter) c.1795G>T (p.Glu599Ter) c.1813G>T (p.Glu605Ter) | |
17 | g.42323019C>G | CA399582723 | STAT3 | c.1873G>C (p.Glu625Gln) c.*265G>C (n.*265G>C) c.1846G>C (p.Glu616Gln) n.1326G>C c.*261G>C (n.*261G>C) c.1969G>C (p.Glu657Gln) n.2073G>C c.1852G>C (p.Glu618Gln) c.1789G>C (p.Glu597Gln) c.1888G>C (p.Glu630Gln) n.2310G>C c.1777G>C (p.Glu593Gln) n.2290G>C n.2116G>C c.1579G>C (p.Glu527Gln) c.1795G>C (p.Glu599Gln) c.1813G>C (p.Glu605Gln) | |
17 | g.42323019C>T | CA399582725 | STAT3 | c.1873G>A (p.Glu625Lys) c.*265G>A (n.*265G>A) c.1846G>A (p.Glu616Lys) n.1326G>A c.*261G>A (n.*261G>A) c.1969G>A (p.Glu657Lys) n.2073G>A c.1852G>A (p.Glu618Lys) c.1789G>A (p.Glu597Lys) c.1888G>A (p.Glu630Lys) n.2310G>A c.1777G>A (p.Glu593Lys) n.2290G>A n.2116G>A c.1579G>A (p.Glu527Lys) c.1795G>A (p.Glu599Lys) c.1813G>A (p.Glu605Lys) | |
17 | g.42323020C>A | CA500061171 | STAT3 | c.1872G>T (p.Val624=) c.*264G>T (n.*264G>T) c.1845G>T (p.Val615=) n.1325G>T c.*260G>T (n.*260G>T) c.1968G>T (p.Val656=) n.2072G>T c.1851G>T (p.Val617=) c.1788G>T (p.Val596=) c.1887G>T (p.Val629=) n.2309G>T c.1776G>T (p.Val592=) n.2289G>T n.2115G>T c.1578G>T (p.Val526=) c.1794G>T (p.Val598=) c.1812G>T (p.Val604=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42323020C= | CA2260430972 | STAT3 | c.1872G= (p.Val624=) c.*264G= (n.*264G=) c.1845G= (p.Val615=) n.1325G= c.*260G= (n.*260G=) c.1968G= (p.Val656=) n.2072G= c.1851G= (p.Val617=) c.1788G= (p.Val596=) c.1887G= (p.Val629=) n.2309G= c.1776G= (p.Val592=) n.2289G= n.2115G= c.1578G= (p.Val526=) c.1794G= (p.Val598=) c.1812G= (p.Val604=) | |
17 | g.42323020C>G | CA500061169 | STAT3 | c.1872G>C (p.Val624=) c.*264G>C (n.*264G>C) c.1845G>C (p.Val615=) n.1325G>C c.*260G>C (n.*260G>C) c.1968G>C (p.Val656=) n.2072G>C c.1851G>C (p.Val617=) c.1788G>C (p.Val596=) c.1887G>C (p.Val629=) n.2309G>C c.1776G>C (p.Val592=) n.2289G>C n.2115G>C c.1578G>C (p.Val526=) c.1794G>C (p.Val598=) c.1812G>C (p.Val604=) | |
17 | g.42323020C>T | CA500061170 | STAT3 | c.1872G>A (p.Val624=) c.*264G>A (n.*264G>A) c.1845G>A (p.Val615=) n.1325G>A c.*260G>A (n.*260G>A) c.1968G>A (p.Val656=) n.2072G>A c.1851G>A (p.Val617=) c.1788G>A (p.Val596=) c.1887G>A (p.Val629=) n.2309G>A c.1776G>A (p.Val592=) n.2289G>A n.2115G>A c.1578G>A (p.Val526=) c.1794G>A (p.Val598=) c.1812G>A (p.Val604=) | gnomAD v4 |
17 | g.42323021A>C | CA399582732 | STAT3 | c.1871T>G (p.Val624Gly) c.*263T>G (n.*263T>G) c.1844T>G (p.Val615Gly) n.1324T>G c.*259T>G (n.*259T>G) c.1967T>G (p.Val656Gly) n.2071T>G c.1850T>G (p.Val617Gly) c.1787T>G (p.Val596Gly) c.1886T>G (p.Val629Gly) n.2308T>G c.1775T>G (p.Val592Gly) n.2288T>G n.2114T>G c.1577T>G (p.Val526Gly) c.1793T>G (p.Val598Gly) c.1811T>G (p.Val604Gly) | |
17 | g.42323021A>G | CA399582730 | STAT3 | c.1871T>C (p.Val624Ala) c.*263T>C (n.*263T>C) c.1844T>C (p.Val615Ala) n.1324T>C c.*259T>C (n.*259T>C) c.1967T>C (p.Val656Ala) n.2071T>C c.1850T>C (p.Val617Ala) c.1787T>C (p.Val596Ala) c.1886T>C (p.Val629Ala) n.2308T>C c.1775T>C (p.Val592Ala) n.2288T>C n.2114T>C c.1577T>C (p.Val526Ala) c.1793T>C (p.Val598Ala) c.1811T>C (p.Val604Ala) | |
17 | g.42323021A>T | CA399582727 | STAT3 | c.1871T>A (p.Val624Glu) c.*263T>A (n.*263T>A) c.1844T>A (p.Val615Glu) n.1324T>A c.*259T>A (n.*259T>A) c.1967T>A (p.Val656Glu) n.2071T>A c.1850T>A (p.Val617Glu) c.1787T>A (p.Val596Glu) c.1886T>A (p.Val629Glu) n.2308T>A c.1775T>A (p.Val592Glu) n.2288T>A n.2114T>A c.1577T>A (p.Val526Glu) c.1793T>A (p.Val598Glu) c.1811T>A (p.Val604Glu) | |
17 | g.42323022C>A | CA399582740 | STAT3 | c.1870G>T (p.Val624Leu) c.*262G>T (n.*262G>T) c.1843G>T (p.Val615Leu) n.1323G>T c.*258G>T (n.*258G>T) c.1966G>T (p.Val656Leu) n.2070G>T c.1849G>T (p.Val617Leu) c.1786G>T (p.Val596Leu) c.1885G>T (p.Val629Leu) n.2307G>T c.1774G>T (p.Val592Leu) n.2287G>T n.2113G>T c.1576G>T (p.Val526Leu) c.1792G>T (p.Val598Leu) c.1810G>T (p.Val604Leu) | dbSNP |
17 | g.42323022C>G | CA399582737 | STAT3 | c.1870G>C (p.Val624Leu) c.*262G>C (n.*262G>C) c.1843G>C (p.Val615Leu) n.1323G>C c.*258G>C (n.*258G>C) c.1966G>C (p.Val656Leu) n.2070G>C c.1849G>C (p.Val617Leu) c.1786G>C (p.Val596Leu) c.1885G>C (p.Val629Leu) n.2307G>C c.1774G>C (p.Val592Leu) n.2287G>C n.2113G>C c.1576G>C (p.Val526Leu) c.1792G>C (p.Val598Leu) c.1810G>C (p.Val604Leu) | dbSNP |
17 | g.42323022C>T | CA399582738 | STAT3 | c.1870G>A (p.Val624Met) c.*262G>A (n.*262G>A) c.1843G>A (p.Val615Met) n.1323G>A c.*258G>A (n.*258G>A) c.1966G>A (p.Val656Met) n.2070G>A c.1849G>A (p.Val617Met) c.1786G>A (p.Val596Met) c.1885G>A (p.Val629Met) n.2307G>A c.1774G>A (p.Val592Met) n.2287G>A n.2113G>A c.1576G>A (p.Val526Met) c.1792G>A (p.Val598Met) c.1810G>A (p.Val604Met) | dbSNP |
17 | g.42323023C>A | CA399582742 | STAT3 | c.1869G>T (p.Trp623Cys) c.*261G>T (n.*261G>T) c.1842G>T (p.Trp614Cys) n.1322G>T c.*257G>T (n.*257G>T) c.1965G>T (p.Trp655Cys) n.2069G>T c.1848G>T (p.Trp616Cys) c.1785G>T (p.Trp595Cys) c.1884G>T (p.Trp628Cys) n.2306G>T c.1773G>T (p.Trp591Cys) n.2286G>T n.2112G>T c.1575G>T (p.Trp525Cys) c.1791G>T (p.Trp597Cys) c.1809G>T (p.Trp603Cys) | ClinVar dbSNP |
17 | g.42323023C>G | CA399582744 | STAT3 | c.1869G>C (p.Trp623Cys) c.*261G>C (n.*261G>C) c.1842G>C (p.Trp614Cys) n.1322G>C c.*257G>C (n.*257G>C) c.1965G>C (p.Trp655Cys) n.2069G>C c.1848G>C (p.Trp616Cys) c.1785G>C (p.Trp595Cys) c.1884G>C (p.Trp628Cys) n.2306G>C c.1773G>C (p.Trp591Cys) n.2286G>C n.2112G>C c.1575G>C (p.Trp525Cys) c.1791G>C (p.Trp597Cys) c.1809G>C (p.Trp603Cys) | dbSNP |
17 | g.42323023C>T | CA399582746 | STAT3 | c.1869G>A (p.Trp623Ter) c.*261G>A (n.*261G>A) c.1842G>A (p.Trp614Ter) n.1322G>A c.*257G>A (n.*257G>A) c.1965G>A (p.Trp655Ter) n.2069G>A c.1848G>A (p.Trp616Ter) c.1785G>A (p.Trp595Ter) c.1884G>A (p.Trp628Ter) n.2306G>A c.1773G>A (p.Trp591Ter) n.2286G>A n.2112G>A c.1575G>A (p.Trp525Ter) c.1791G>A (p.Trp597Ter) c.1809G>A (p.Trp603Ter) | dbSNP |
17 | g.42323024C>A | CA235970 | STAT3 | c.1868G>T (p.Trp623Leu) c.*260G>T (n.*260G>T) c.1841G>T (p.Trp614Leu) n.1321G>T c.*256G>T (n.*256G>T) c.1964G>T (p.Trp655Leu) n.2068G>T c.1847G>T (p.Trp616Leu) c.1784G>T (p.Trp595Leu) c.1883G>T (p.Trp628Leu) n.2305G>T c.1772G>T (p.Trp591Leu) n.2285G>T n.2111G>T c.1574G>T (p.Trp525Leu) c.1790G>T (p.Trp597Leu) c.1808G>T (p.Trp603Leu) | ClinVar dbSNP |
17 | g.42323024C= | CA2260430973 | STAT3 | c.1868G= (p.Trp623=) c.*260G= (n.*260G=) c.1841G= (p.Trp614=) n.1321G= c.*256G= (n.*256G=) c.1964G= (p.Trp655=) n.2068G= c.1847G= (p.Trp616=) c.1784G= (p.Trp595=) c.1883G= (p.Trp628=) n.2305G= c.1772G= (p.Trp591=) n.2285G= n.2111G= c.1574G= (p.Trp525=) c.1790G= (p.Trp597=) c.1808G= (p.Trp603=) | |
17 | g.42323024C>G | CA399582750 | STAT3 | c.1868G>C (p.Trp623Ser) c.*260G>C (n.*260G>C) c.1841G>C (p.Trp614Ser) n.1321G>C c.*256G>C (n.*256G>C) c.1964G>C (p.Trp655Ser) n.2068G>C c.1847G>C (p.Trp616Ser) c.1784G>C (p.Trp595Ser) c.1883G>C (p.Trp628Ser) n.2305G>C c.1772G>C (p.Trp591Ser) n.2285G>C n.2111G>C c.1574G>C (p.Trp525Ser) c.1790G>C (p.Trp597Ser) c.1808G>C (p.Trp603Ser) | |
17 | g.42323024C>T | CA399582751 | STAT3 | c.1868G>A (p.Trp623Ter) c.*260G>A (n.*260G>A) c.1841G>A (p.Trp614Ter) n.1321G>A c.*256G>A (n.*256G>A) c.1964G>A (p.Trp655Ter) n.2068G>A c.1847G>A (p.Trp616Ter) c.1784G>A (p.Trp595Ter) c.1883G>A (p.Trp628Ter) n.2305G>A c.1772G>A (p.Trp591Ter) n.2285G>A n.2111G>A c.1574G>A (p.Trp525Ter) c.1790G>A (p.Trp597Ter) c.1808G>A (p.Trp603Ter) | |
17 | g.42323025A>C | CA399582754 | STAT3 | c.1867T>G (p.Trp623Gly) c.*259T>G (n.*259T>G) c.1840T>G (p.Trp614Gly) n.1320T>G c.*255T>G (n.*255T>G) c.1963T>G (p.Trp655Gly) n.2067T>G c.1846T>G (p.Trp616Gly) c.1783T>G (p.Trp595Gly) c.1882T>G (p.Trp628Gly) n.2304T>G c.1771T>G (p.Trp591Gly) n.2284T>G n.2110T>G c.1573T>G (p.Trp525Gly) c.1789T>G (p.Trp597Gly) c.1807T>G (p.Trp603Gly) | dbSNP |
17 | g.42323025A>G | CA399582756 | STAT3 | c.1867T>C (p.Trp623Arg) c.*259T>C (n.*259T>C) c.1840T>C (p.Trp614Arg) n.1320T>C c.*255T>C (n.*255T>C) c.1963T>C (p.Trp655Arg) n.2067T>C c.1846T>C (p.Trp616Arg) c.1783T>C (p.Trp595Arg) c.1882T>C (p.Trp628Arg) n.2304T>C c.1771T>C (p.Trp591Arg) n.2284T>C n.2110T>C c.1573T>C (p.Trp525Arg) c.1789T>C (p.Trp597Arg) c.1807T>C (p.Trp603Arg) | dbSNP |
17 | g.42323025A>T | CA399582758 | STAT3 | c.1867T>A (p.Trp623Arg) c.*259T>A (n.*259T>A) c.1840T>A (p.Trp614Arg) n.1320T>A c.*255T>A (n.*255T>A) c.1963T>A (p.Trp655Arg) n.2067T>A c.1846T>A (p.Trp616Arg) c.1783T>A (p.Trp595Arg) c.1882T>A (p.Trp628Arg) n.2304T>A c.1771T>A (p.Trp591Arg) n.2284T>A n.2110T>A c.1573T>A (p.Trp525Arg) c.1789T>A (p.Trp597Arg) c.1807T>A (p.Trp603Arg) | dbSNP |
17 | g.42323026A= | CA2260430974 | STAT3 | c.1866T= (p.Thr622=) c.*258T= (n.*258T=) c.1839T= (p.Thr613=) n.1319T= c.*254T= (n.*254T=) c.1962T= (p.Thr654=) n.2066T= c.1845T= (p.Thr615=) c.1782T= (p.Thr594=) c.1881T= (p.Thr627=) n.2303T= c.1770T= (p.Thr590=) n.2283T= n.2109T= c.1572T= (p.Thr524=) c.1788T= (p.Thr596=) c.1806T= (p.Thr602=) | |
17 | g.42323026A>C | CA500061172 | STAT3 | c.1866T>G (p.Thr622=) c.*258T>G (n.*258T>G) c.1839T>G (p.Thr613=) n.1319T>G c.*254T>G (n.*254T>G) c.1962T>G (p.Thr654=) n.2066T>G c.1845T>G (p.Thr615=) c.1782T>G (p.Thr594=) c.1881T>G (p.Thr627=) n.2303T>G c.1770T>G (p.Thr590=) n.2283T>G n.2109T>G c.1572T>G (p.Thr524=) c.1788T>G (p.Thr596=) c.1806T>G (p.Thr602=) | ClinVar |
17 | g.42323026A>G | CA8575205 | STAT3 | c.1866T>C (p.Thr622=) c.*258T>C (n.*258T>C) c.1839T>C (p.Thr613=) n.1319T>C c.*254T>C (n.*254T>C) c.1962T>C (p.Thr654=) n.2066T>C c.1845T>C (p.Thr615=) c.1782T>C (p.Thr594=) c.1881T>C (p.Thr627=) n.2303T>C c.1770T>C (p.Thr590=) n.2283T>C n.2109T>C c.1572T>C (p.Thr524=) c.1788T>C (p.Thr596=) c.1806T>C (p.Thr602=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42323026A>T | CA500061173 | STAT3 | c.1866T>A (p.Thr622=) c.*258T>A (n.*258T>A) c.1839T>A (p.Thr613=) n.1319T>A c.*254T>A (n.*254T>A) c.1962T>A (p.Thr654=) n.2066T>A c.1845T>A (p.Thr615=) c.1782T>A (p.Thr594=) c.1881T>A (p.Thr627=) n.2303T>A c.1770T>A (p.Thr590=) n.2283T>A n.2109T>A c.1572T>A (p.Thr524=) c.1788T>A (p.Thr596=) c.1806T>A (p.Thr602=) | dbSNP |
17 | g.42323027G>A | CA399582763 | STAT3 | c.1865C>T (p.Thr622Ile) c.*257C>T (n.*257C>T) c.1838C>T (p.Thr613Ile) n.1318C>T c.*253C>T (n.*253C>T) c.1961C>T (p.Thr654Ile) n.2065C>T c.1844C>T (p.Thr615Ile) c.1781C>T (p.Thr594Ile) c.1880C>T (p.Thr627Ile) n.2302C>T c.1769C>T (p.Thr590Ile) n.2282C>T n.2108C>T c.1571C>T (p.Thr524Ile) c.1787C>T (p.Thr596Ile) c.1805C>T (p.Thr602Ile) | ClinVar dbSNP |
17 | g.42323027G>C | CA399582765 | STAT3 | c.1865C>G (p.Thr622Ser) c.*257C>G (n.*257C>G) c.1838C>G (p.Thr613Ser) n.1318C>G c.*253C>G (n.*253C>G) c.1961C>G (p.Thr654Ser) n.2065C>G c.1844C>G (p.Thr615Ser) c.1781C>G (p.Thr594Ser) c.1880C>G (p.Thr627Ser) n.2302C>G c.1769C>G (p.Thr590Ser) n.2282C>G n.2108C>G c.1571C>G (p.Thr524Ser) c.1787C>G (p.Thr596Ser) c.1805C>G (p.Thr602Ser) | dbSNP |
17 | g.42323027G>T | CA399582761 | STAT3 | c.1865C>A (p.Thr622Asn) c.*257C>A (n.*257C>A) c.1838C>A (p.Thr613Asn) n.1318C>A c.*253C>A (n.*253C>A) c.1961C>A (p.Thr654Asn) n.2065C>A c.1844C>A (p.Thr615Asn) c.1781C>A (p.Thr594Asn) c.1880C>A (p.Thr627Asn) n.2302C>A c.1769C>A (p.Thr590Asn) n.2282C>A n.2108C>A c.1571C>A (p.Thr524Asn) c.1787C>A (p.Thr596Asn) c.1805C>A (p.Thr602Asn) | dbSNP |
17 | g.42323028T>A | CA399582768 | STAT3 | c.1864A>T (p.Thr622Ser) c.*256A>T (n.*256A>T) c.1837A>T (p.Thr613Ser) n.1317A>T c.*252A>T (n.*252A>T) c.1960A>T (p.Thr654Ser) n.2064A>T c.1843A>T (p.Thr615Ser) c.1780A>T (p.Thr594Ser) c.1879A>T (p.Thr627Ser) n.2301A>T c.1768A>T (p.Thr590Ser) n.2281A>T n.2107A>T c.1570A>T (p.Thr524Ser) c.1786A>T (p.Thr596Ser) c.1804A>T (p.Thr602Ser) | dbSNP |
17 | g.42323028T>C | CA399582769 | STAT3 | c.1864A>G (p.Thr622Ala) c.*256A>G (n.*256A>G) c.1837A>G (p.Thr613Ala) n.1317A>G c.*252A>G (n.*252A>G) c.1960A>G (p.Thr654Ala) n.2064A>G c.1843A>G (p.Thr615Ala) c.1780A>G (p.Thr594Ala) c.1879A>G (p.Thr627Ala) n.2301A>G c.1768A>G (p.Thr590Ala) n.2281A>G n.2107A>G c.1570A>G (p.Thr524Ala) c.1786A>G (p.Thr596Ala) c.1804A>G (p.Thr602Ala) | dbSNP |
17 | g.42323028T>G | CA399582770 | STAT3 | c.1864A>C (p.Thr622Pro) c.*256A>C (n.*256A>C) c.1837A>C (p.Thr613Pro) n.1317A>C c.*252A>C (n.*252A>C) c.1960A>C (p.Thr654Pro) n.2064A>C c.1843A>C (p.Thr615Pro) c.1780A>C (p.Thr594Pro) c.1879A>C (p.Thr627Pro) n.2301A>C c.1768A>C (p.Thr590Pro) n.2281A>C n.2107A>C c.1570A>C (p.Thr524Pro) c.1786A>C (p.Thr596Pro) c.1804A>C (p.Thr602Pro) | dbSNP |
17 | g.42323029G>A | CA500061174 | STAT3 | c.1863C>T (p.Phe621=) c.*255C>T (n.*255C>T) c.1836C>T (p.Phe612=) n.1316C>T c.*251C>T (n.*251C>T) c.1959C>T (p.Phe653=) n.2063C>T c.1842C>T (p.Phe614=) c.1779C>T (p.Phe593=) c.1878C>T (p.Phe626=) n.2300C>T c.1767C>T (p.Phe589=) n.2280C>T n.2106C>T c.1569C>T (p.Phe523=) c.1785C>T (p.Phe595=) c.1803C>T (p.Phe601=) | dbSNP |
17 | g.42323029G>C | CA399582773 | STAT3 | c.1863C>G (p.Phe621Leu) c.*255C>G (n.*255C>G) c.1836C>G (p.Phe612Leu) n.1316C>G c.*251C>G (n.*251C>G) c.1959C>G (p.Phe653Leu) n.2063C>G c.1842C>G (p.Phe614Leu) c.1779C>G (p.Phe593Leu) c.1878C>G (p.Phe626Leu) n.2300C>G c.1767C>G (p.Phe589Leu) n.2280C>G n.2106C>G c.1569C>G (p.Phe523Leu) c.1785C>G (p.Phe595Leu) c.1803C>G (p.Phe601Leu) | ClinVar dbSNP |
17 | g.42323029G= | CA2260430975 | STAT3 | c.1863C= (p.Phe621=) c.*255C= (n.*255C=) c.1836C= (p.Phe612=) n.1316C= c.*251C= (n.*251C=) c.1959C= (p.Phe653=) n.2063C= c.1842C= (p.Phe614=) c.1779C= (p.Phe593=) c.1878C= (p.Phe626=) n.2300C= c.1767C= (p.Phe589=) n.2280C= n.2106C= c.1569C= (p.Phe523=) c.1785C= (p.Phe595=) c.1803C= (p.Phe601=) | |
17 | g.42323029G>T | CA399582775 | STAT3 | c.1863C>A (p.Phe621Leu) c.*255C>A (n.*255C>A) c.1836C>A (p.Phe612Leu) n.1316C>A c.*251C>A (n.*251C>A) c.1959C>A (p.Phe653Leu) n.2063C>A c.1842C>A (p.Phe614Leu) c.1779C>A (p.Phe593Leu) c.1878C>A (p.Phe626Leu) n.2300C>A c.1767C>A (p.Phe589Leu) n.2280C>A n.2106C>A c.1569C>A (p.Phe523Leu) c.1785C>A (p.Phe595Leu) c.1803C>A (p.Phe601Leu) | ClinVar dbSNP |
17 | g.42323030A= | CA2260430976 | STAT3 | c.1862T= (p.Phe621=) c.*254T= (n.*254T=) c.1835T= (p.Phe612=) n.1315T= c.*250T= (n.*250T=) c.1958T= (p.Phe653=) n.2062T= c.1841T= (p.Phe614=) c.1778T= (p.Phe593=) c.1877T= (p.Phe626=) n.2299T= c.1766T= (p.Phe589=) n.2279T= n.2105T= c.1568T= (p.Phe523=) c.1784T= (p.Phe595=) c.1802T= (p.Phe601=) | |
17 | g.42323030A>C | CA399582781 | STAT3 | c.1862T>G (p.Phe621Cys) c.*254T>G (n.*254T>G) c.1835T>G (p.Phe612Cys) n.1315T>G c.*250T>G (n.*250T>G) c.1958T>G (p.Phe653Cys) n.2062T>G c.1841T>G (p.Phe614Cys) c.1778T>G (p.Phe593Cys) c.1877T>G (p.Phe626Cys) n.2299T>G c.1766T>G (p.Phe589Cys) n.2279T>G n.2105T>G c.1568T>G (p.Phe523Cys) c.1784T>G (p.Phe595Cys) c.1802T>G (p.Phe601Cys) | |
17 | g.42323030A>G | CA399582777 | STAT3 | c.1862T>C (p.Phe621Ser) c.*254T>C (n.*254T>C) c.1835T>C (p.Phe612Ser) n.1315T>C c.*250T>C (n.*250T>C) c.1958T>C (p.Phe653Ser) n.2062T>C c.1841T>C (p.Phe614Ser) c.1778T>C (p.Phe593Ser) c.1877T>C (p.Phe626Ser) n.2299T>C c.1766T>C (p.Phe589Ser) n.2279T>C n.2105T>C c.1568T>C (p.Phe523Ser) c.1784T>C (p.Phe595Ser) c.1802T>C (p.Phe601Ser) | |
17 | g.42323030A>T | CA399582779 | STAT3 | c.1862T>A (p.Phe621Tyr) c.*254T>A (n.*254T>A) c.1835T>A (p.Phe612Tyr) n.1315T>A c.*250T>A (n.*250T>A) c.1958T>A (p.Phe653Tyr) n.2062T>A c.1841T>A (p.Phe614Tyr) c.1778T>A (p.Phe593Tyr) c.1877T>A (p.Phe626Tyr) n.2299T>A c.1766T>A (p.Phe589Tyr) n.2279T>A n.2105T>A c.1568T>A (p.Phe523Tyr) c.1784T>A (p.Phe595Tyr) c.1802T>A (p.Phe601Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42323031A>C | CA399582782 | STAT3 | c.1861T>G (p.Phe621Val) c.*253T>G (n.*253T>G) c.1834T>G (p.Phe612Val) n.1314T>G c.*249T>G (n.*249T>G) c.1957T>G (p.Phe653Val) n.2061T>G c.1840T>G (p.Phe614Val) c.1777T>G (p.Phe593Val) c.1876T>G (p.Phe626Val) n.2298T>G c.1765T>G (p.Phe589Val) n.2278T>G n.2104T>G c.1567T>G (p.Phe523Val) c.1783T>G (p.Phe595Val) c.1801T>G (p.Phe601Val) | ClinVar |
17 | g.42323031A>G | CA399582784 | STAT3 | c.1861T>C (p.Phe621Leu) c.*253T>C (n.*253T>C) c.1834T>C (p.Phe612Leu) n.1314T>C c.*249T>C (n.*249T>C) c.1957T>C (p.Phe653Leu) n.2061T>C c.1840T>C (p.Phe614Leu) c.1777T>C (p.Phe593Leu) c.1876T>C (p.Phe626Leu) n.2298T>C c.1765T>C (p.Phe589Leu) n.2278T>C n.2104T>C c.1567T>C (p.Phe523Leu) c.1783T>C (p.Phe595Leu) c.1801T>C (p.Phe601Leu) | |
17 | g.42323031A>T | CA399582786 | STAT3 | c.1861T>A (p.Phe621Ile) c.*253T>A (n.*253T>A) c.1834T>A (p.Phe612Ile) n.1314T>A c.*249T>A (n.*249T>A) c.1957T>A (p.Phe653Ile) n.2061T>A c.1840T>A (p.Phe614Ile) c.1777T>A (p.Phe593Ile) c.1876T>A (p.Phe626Ile) n.2298T>A c.1765T>A (p.Phe589Ile) n.2278T>A n.2104T>A c.1567T>A (p.Phe523Ile) c.1783T>A (p.Phe595Ile) c.1801T>A (p.Phe601Ile) | dbSNP |
17 | g.42323032A>C | CA500061176 | STAT3 | c.1860T>G (p.Thr620=) c.*252T>G (n.*252T>G) c.1833T>G (p.Thr611=) n.1313T>G c.*248T>G (n.*248T>G) c.1956T>G (p.Thr652=) n.2060T>G c.1839T>G (p.Thr613=) c.1776T>G (p.Thr592=) c.1875T>G (p.Thr625=) n.2297T>G c.1764T>G (p.Thr588=) n.2277T>G n.2103T>G c.1566T>G (p.Thr522=) c.1782T>G (p.Thr594=) c.1800T>G (p.Thr600=) | |
17 | g.42323032A>G | CA500061177 | STAT3 | c.1860T>C (p.Thr620=) c.*252T>C (n.*252T>C) c.1833T>C (p.Thr611=) n.1313T>C c.*248T>C (n.*248T>C) c.1956T>C (p.Thr652=) n.2060T>C c.1839T>C (p.Thr613=) c.1776T>C (p.Thr592=) c.1875T>C (p.Thr625=) n.2297T>C c.1764T>C (p.Thr588=) n.2277T>C n.2103T>C c.1566T>C (p.Thr522=) c.1782T>C (p.Thr594=) c.1800T>C (p.Thr600=) | dbSNP |
17 | g.42323032A>T | CA500061175 | STAT3 | c.1860T>A (p.Thr620=) c.*252T>A (n.*252T>A) c.1833T>A (p.Thr611=) n.1313T>A c.*248T>A (n.*248T>A) c.1956T>A (p.Thr652=) n.2060T>A c.1839T>A (p.Thr613=) c.1776T>A (p.Thr592=) c.1875T>A (p.Thr625=) n.2297T>A c.1764T>A (p.Thr588=) n.2277T>A n.2103T>A c.1566T>A (p.Thr522=) c.1782T>A (p.Thr594=) c.1800T>A (p.Thr600=) | dbSNP gnomAD v4 |
17 | g.42323033G>A | CA399582788 | STAT3 | c.1859C>T (p.Thr620Ile) c.*251C>T (n.*251C>T) c.1832C>T (p.Thr611Ile) n.1312C>T c.*247C>T (n.*247C>T) c.1955C>T (p.Thr652Ile) n.2059C>T c.1838C>T (p.Thr613Ile) c.1775C>T (p.Thr592Ile) c.1874C>T (p.Thr625Ile) n.2296C>T c.1763C>T (p.Thr588Ile) n.2276C>T n.2102C>T c.1565C>T (p.Thr522Ile) c.1781C>T (p.Thr594Ile) c.1799C>T (p.Thr600Ile) | ClinVar dbSNP |
17 | g.42323033G>C | CA399582790 | STAT3 | c.1859C>G (p.Thr620Ser) c.*251C>G (n.*251C>G) c.1832C>G (p.Thr611Ser) n.1312C>G c.*247C>G (n.*247C>G) c.1955C>G (p.Thr652Ser) n.2059C>G c.1838C>G (p.Thr613Ser) c.1775C>G (p.Thr592Ser) c.1874C>G (p.Thr625Ser) n.2296C>G c.1763C>G (p.Thr588Ser) n.2276C>G n.2102C>G c.1565C>G (p.Thr522Ser) c.1781C>G (p.Thr594Ser) c.1799C>G (p.Thr600Ser) | ClinVar dbSNP |
17 | g.42323033G= | CA2260430977 | STAT3 | c.1859C= (p.Thr620=) c.*251C= (n.*251C=) c.1832C= (p.Thr611=) n.1312C= c.*247C= (n.*247C=) c.1955C= (p.Thr652=) n.2059C= c.1838C= (p.Thr613=) c.1775C= (p.Thr592=) c.1874C= (p.Thr625=) n.2296C= c.1763C= (p.Thr588=) n.2276C= n.2102C= c.1565C= (p.Thr522=) c.1781C= (p.Thr594=) c.1799C= (p.Thr600=) | |
17 | g.42323033G>T | CA399582792 | STAT3 | c.1859C>A (p.Thr620Asn) c.*251C>A (n.*251C>A) c.1832C>A (p.Thr611Asn) n.1312C>A c.*247C>A (n.*247C>A) c.1955C>A (p.Thr652Asn) n.2059C>A c.1838C>A (p.Thr613Asn) c.1775C>A (p.Thr592Asn) c.1874C>A (p.Thr625Asn) n.2296C>A c.1763C>A (p.Thr588Asn) n.2276C>A n.2102C>A c.1565C>A (p.Thr522Asn) c.1781C>A (p.Thr594Asn) c.1799C>A (p.Thr600Asn) | |
17 | g.42323034T>A | CA399582796 | STAT3 | c.1858A>T (p.Thr620Ser) c.*250A>T (n.*250A>T) c.1831A>T (p.Thr611Ser) n.1311A>T c.*246A>T (n.*246A>T) c.1954A>T (p.Thr652Ser) n.2058A>T c.1837A>T (p.Thr613Ser) c.1774A>T (p.Thr592Ser) c.1873A>T (p.Thr625Ser) n.2295A>T c.1762A>T (p.Thr588Ser) n.2275A>T n.2101A>T c.1564A>T (p.Thr522Ser) c.1780A>T (p.Thr594Ser) c.1798A>T (p.Thr600Ser) | dbSNP |
17 | g.42323034T>C | CA399582797 | STAT3 | c.1858A>G (p.Thr620Ala) c.*250A>G (n.*250A>G) c.1831A>G (p.Thr611Ala) n.1311A>G c.*246A>G (n.*246A>G) c.1954A>G (p.Thr652Ala) n.2058A>G c.1837A>G (p.Thr613Ala) c.1774A>G (p.Thr592Ala) c.1873A>G (p.Thr625Ala) n.2295A>G c.1762A>G (p.Thr588Ala) n.2275A>G n.2101A>G c.1564A>G (p.Thr522Ala) c.1780A>G (p.Thr594Ala) c.1798A>G (p.Thr600Ala) | ClinVar dbSNP |
17 | g.42323034T>G | CA399582794 | STAT3 | c.1858A>C (p.Thr620Pro) c.*250A>C (n.*250A>C) c.1831A>C (p.Thr611Pro) n.1311A>C c.*246A>C (n.*246A>C) c.1954A>C (p.Thr652Pro) n.2058A>C c.1837A>C (p.Thr613Pro) c.1774A>C (p.Thr592Pro) c.1873A>C (p.Thr625Pro) n.2295A>C c.1762A>C (p.Thr588Pro) n.2275A>C n.2101A>C c.1564A>C (p.Thr522Pro) c.1780A>C (p.Thr594Pro) c.1798A>C (p.Thr600Pro) | dbSNP |
17 | g.42323035G>A | CA500061179 | STAT3 | c.1857C>T (p.Val619=) c.*249C>T (n.*249C>T) c.1830C>T (p.Val610=) n.1310C>T c.*245C>T (n.*245C>T) c.1953C>T (p.Val651=) n.2057C>T c.1836C>T (p.Val612=) c.1773C>T (p.Val591=) c.1872C>T (p.Val624=) n.2294C>T c.1761C>T (p.Val587=) n.2274C>T n.2100C>T c.1563C>T (p.Val521=) n.826C>T c.1779C>T (p.Val593=) c.1797C>T (p.Val599=) | dbSNP |
17 | g.42323035G>C | CA500061178 | STAT3 | c.1857C>G (p.Val619=) c.*249C>G (n.*249C>G) c.1830C>G (p.Val610=) n.1310C>G c.*245C>G (n.*245C>G) c.1953C>G (p.Val651=) n.2057C>G c.1836C>G (p.Val612=) c.1773C>G (p.Val591=) c.1872C>G (p.Val624=) n.2294C>G c.1761C>G (p.Val587=) n.2274C>G n.2100C>G c.1563C>G (p.Val521=) n.826C>G c.1779C>G (p.Val593=) c.1797C>G (p.Val599=) | dbSNP |
17 | g.42323035G= | CA2260430978 | STAT3 | c.1857C= (p.Val619=) c.*249C= (n.*249C=) c.1830C= (p.Val610=) n.1310C= c.*245C= (n.*245C=) c.1953C= (p.Val651=) n.2057C= c.1836C= (p.Val612=) c.1773C= (p.Val591=) c.1872C= (p.Val624=) n.2294C= c.1761C= (p.Val587=) n.2274C= n.2100C= c.1563C= (p.Val521=) n.826C= c.1779C= (p.Val593=) c.1797C= (p.Val599=) | |
17 | g.42323035G>T | CA8575206 | STAT3 | c.1857C>A (p.Val619=) c.*249C>A (n.*249C>A) c.1830C>A (p.Val610=) n.1310C>A c.*245C>A (n.*245C>A) c.1953C>A (p.Val651=) n.2057C>A c.1836C>A (p.Val612=) c.1773C>A (p.Val591=) c.1872C>A (p.Val624=) n.2294C>A c.1761C>A (p.Val587=) n.2274C>A n.2100C>A c.1563C>A (p.Val521=) n.826C>A c.1779C>A (p.Val593=) c.1797C>A (p.Val599=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42323036A>C | CA399582799 | STAT3 | c.1856T>G (p.Val619Gly) c.*248T>G (n.*248T>G) c.1829T>G (p.Val610Gly) n.1309T>G c.*244T>G (n.*244T>G) c.1952T>G (p.Val651Gly) n.2056T>G c.1835T>G (p.Val612Gly) c.1772T>G (p.Val591Gly) c.1871T>G (p.Val624Gly) n.2293T>G c.1760T>G (p.Val587Gly) n.2273T>G n.2099T>G c.1562T>G (p.Val521Gly) n.825T>G c.1778T>G (p.Val593Gly) c.1796T>G (p.Val599Gly) | dbSNP |
17 | g.42323036A>G | CA399582801 | STAT3 | c.1856T>C (p.Val619Ala) c.*248T>C (n.*248T>C) c.1829T>C (p.Val610Ala) n.1309T>C c.*244T>C (n.*244T>C) c.1952T>C (p.Val651Ala) n.2056T>C c.1835T>C (p.Val612Ala) c.1772T>C (p.Val591Ala) c.1871T>C (p.Val624Ala) n.2293T>C c.1760T>C (p.Val587Ala) n.2273T>C n.2099T>C c.1562T>C (p.Val521Ala) n.825T>C c.1778T>C (p.Val593Ala) c.1796T>C (p.Val599Ala) | dbSNP |
17 | g.42323036A>T | CA399582803 | STAT3 | c.1856T>A (p.Val619Asp) c.*248T>A (n.*248T>A) c.1829T>A (p.Val610Asp) n.1309T>A c.*244T>A (n.*244T>A) c.1952T>A (p.Val651Asp) n.2056T>A c.1835T>A (p.Val612Asp) c.1772T>A (p.Val591Asp) c.1871T>A (p.Val624Asp) n.2293T>A c.1760T>A (p.Val587Asp) n.2273T>A n.2099T>A c.1562T>A (p.Val521Asp) n.825T>A c.1778T>A (p.Val593Asp) c.1796T>A (p.Val599Asp) | dbSNP |
17 | g.42323037C>A | CA399582805 | STAT3 | c.1855G>T (p.Val619Phe) c.*247G>T (n.*247G>T) c.1828G>T (p.Val610Phe) n.1308G>T c.*243G>T (n.*243G>T) c.1951G>T (p.Val651Phe) n.2055G>T c.1834G>T (p.Val612Phe) c.1771G>T (p.Val591Phe) c.1870G>T (p.Val624Phe) n.2292G>T c.1759G>T (p.Val587Phe) n.2272G>T n.2098G>T c.1561G>T (p.Val521Phe) n.824G>T c.1777G>T (p.Val593Phe) c.1795G>T (p.Val599Phe) | |
17 | g.42323037C= | CA2260430979 | STAT3 | c.1855G= (p.Val619=) c.*247G= (n.*247G=) c.1828G= (p.Val610=) n.1308G= c.*243G= (n.*243G=) c.1951G= (p.Val651=) n.2055G= c.1834G= (p.Val612=) c.1771G= (p.Val591=) c.1870G= (p.Val624=) n.2292G= c.1759G= (p.Val587=) n.2272G= n.2098G= c.1561G= (p.Val521=) n.824G= c.1777G= (p.Val593=) c.1795G= (p.Val599=) | |
17 | g.42323037C>G | CA399582807 | STAT3 | c.1855G>C (p.Val619Leu) c.*247G>C (n.*247G>C) c.1828G>C (p.Val610Leu) n.1308G>C c.*243G>C (n.*243G>C) c.1951G>C (p.Val651Leu) n.2055G>C c.1834G>C (p.Val612Leu) c.1771G>C (p.Val591Leu) c.1870G>C (p.Val624Leu) n.2292G>C c.1759G>C (p.Val587Leu) n.2272G>C n.2098G>C c.1561G>C (p.Val521Leu) n.824G>C c.1777G>C (p.Val593Leu) c.1795G>C (p.Val599Leu) | dbSNP |
17 | g.42323037C>T | CA8575207 | STAT3 | c.1855G>A (p.Val619Ile) c.*247G>A (n.*247G>A) c.1828G>A (p.Val610Ile) n.1308G>A c.*243G>A (n.*243G>A) c.1951G>A (p.Val651Ile) n.2055G>A c.1834G>A (p.Val612Ile) c.1771G>A (p.Val591Ile) c.1870G>A (p.Val624Ile) n.2292G>A c.1759G>A (p.Val587Ile) n.2272G>A n.2098G>A c.1561G>A (p.Val521Ile) n.824G>A c.1777G>A (p.Val593Ile) c.1795G>A (p.Val599Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42323038G>A | CA8575208 | STAT3 | c.1854C>T (p.Gly618=) c.*246C>T (n.*246C>T) c.1827C>T (p.Gly609=) n.1307C>T c.*242C>T (n.*242C>T) c.1950C>T (p.Gly650=) n.2054C>T c.1833C>T (p.Gly611=) c.1770C>T (p.Gly590=) c.1869C>T (p.Gly623=) n.2291C>T c.1758C>T (p.Gly586=) n.2271C>T n.2097C>T c.1560C>T (p.Gly520=) n.823C>T c.1776C>T (p.Gly592=) c.1794C>T (p.Gly598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42323038G>C | CA500061181 | STAT3 | c.1854C>G (p.Gly618=) c.*246C>G (n.*246C>G) c.1827C>G (p.Gly609=) n.1307C>G c.*242C>G (n.*242C>G) c.1950C>G (p.Gly650=) n.2054C>G c.1833C>G (p.Gly611=) c.1770C>G (p.Gly590=) c.1869C>G (p.Gly623=) n.2291C>G c.1758C>G (p.Gly586=) n.2271C>G n.2097C>G c.1560C>G (p.Gly520=) n.823C>G c.1776C>G (p.Gly592=) c.1794C>G (p.Gly598=) | |
17 | g.42323038G= | CA2260430980 | STAT3 | c.1854C= (p.Gly618=) c.*246C= (n.*246C=) c.1827C= (p.Gly609=) n.1307C= c.*242C= (n.*242C=) c.1950C= (p.Gly650=) n.2054C= c.1833C= (p.Gly611=) c.1770C= (p.Gly590=) c.1869C= (p.Gly623=) n.2291C= c.1758C= (p.Gly586=) n.2271C= n.2097C= c.1560C= (p.Gly520=) n.823C= c.1776C= (p.Gly592=) c.1794C= (p.Gly598=) | |
17 | g.42323038G>T | CA500061180 | STAT3 | c.1854C>A (p.Gly618=) c.*246C>A (n.*246C>A) c.1827C>A (p.Gly609=) n.1307C>A c.*242C>A (n.*242C>A) c.1950C>A (p.Gly650=) n.2054C>A c.1833C>A (p.Gly611=) c.1770C>A (p.Gly590=) c.1869C>A (p.Gly623=) n.2291C>A c.1758C>A (p.Gly586=) n.2271C>A n.2097C>A c.1560C>A (p.Gly520=) n.823C>A c.1776C>A (p.Gly592=) c.1794C>A (p.Gly598=) | |
17 | g.42323039C>A | CA399582811 | STAT3 | c.1853G>T (p.Gly618Val) c.*245G>T (n.*245G>T) c.1826G>T (p.Gly609Val) n.1306G>T c.*241G>T (n.*241G>T) c.1949G>T (p.Gly650Val) n.2053G>T c.1832G>T (p.Gly611Val) c.1769G>T (p.Gly590Val) c.1868G>T (p.Gly623Val) n.2290G>T c.1757G>T (p.Gly586Val) n.2270G>T n.2096G>T c.1559G>T (p.Gly520Val) n.822G>T c.1775G>T (p.Gly592Val) c.1793G>T (p.Gly598Val) | |
17 | g.42323039C= | CA2260430981 | STAT3 | c.1853G= (p.Gly618=) c.*245G= (n.*245G=) c.1826G= (p.Gly609=) n.1306G= c.*241G= (n.*241G=) c.1949G= (p.Gly650=) n.2053G= c.1832G= (p.Gly611=) c.1769G= (p.Gly590=) c.1868G= (p.Gly623=) n.2290G= c.1757G= (p.Gly586=) n.2270G= n.2096G= c.1559G= (p.Gly520=) n.822G= c.1775G= (p.Gly592=) c.1793G= (p.Gly598=) | |
17 | g.42323039C>G | CA399582813 | STAT3 | c.1853G>C (p.Gly618Ala) c.*245G>C (n.*245G>C) c.1826G>C (p.Gly609Ala) n.1306G>C c.*241G>C (n.*241G>C) c.1949G>C (p.Gly650Ala) n.2053G>C c.1832G>C (p.Gly611Ala) c.1769G>C (p.Gly590Ala) c.1868G>C (p.Gly623Ala) n.2290G>C c.1757G>C (p.Gly586Ala) n.2270G>C n.2096G>C c.1559G>C (p.Gly520Ala) n.822G>C c.1775G>C (p.Gly592Ala) c.1793G>C (p.Gly598Ala) | dbSNP |
17 | g.42323039C>T | CA399582815 | STAT3 | c.1853G>A (p.Gly618Asp) c.*245G>A (n.*245G>A) c.1826G>A (p.Gly609Asp) n.1306G>A c.*241G>A (n.*241G>A) c.1949G>A (p.Gly650Asp) n.2053G>A c.1832G>A (p.Gly611Asp) c.1769G>A (p.Gly590Asp) c.1868G>A (p.Gly623Asp) n.2290G>A c.1757G>A (p.Gly586Asp) n.2270G>A n.2096G>A c.1559G>A (p.Gly520Asp) n.822G>A c.1775G>A (p.Gly592Asp) c.1793G>A (p.Gly598Asp) | ClinVar dbSNP |
17 | g.42323040C>A | CA399582817 | STAT3 | c.1852G>T (p.Gly618Cys) c.*244G>T (n.*244G>T) c.1825G>T (p.Gly609Cys) n.1305G>T c.*240G>T (n.*240G>T) c.1948G>T (p.Gly650Cys) n.2052G>T c.1831G>T (p.Gly611Cys) c.1768G>T (p.Gly590Cys) c.1867G>T (p.Gly623Cys) n.2289G>T c.1756G>T (p.Gly586Cys) n.2269G>T n.2095G>T c.1558G>T (p.Gly520Cys) n.821G>T c.1774G>T (p.Gly592Cys) c.1792G>T (p.Gly598Cys) | dbSNP |
17 | g.42323040C= | CA2260430982 | STAT3 | c.1852G= (p.Gly618=) c.*244G= (n.*244G=) c.1825G= (p.Gly609=) n.1305G= c.*240G= (n.*240G=) c.1948G= (p.Gly650=) n.2052G= c.1831G= (p.Gly611=) c.1768G= (p.Gly590=) c.1867G= (p.Gly623=) n.2289G= c.1756G= (p.Gly586=) n.2269G= n.2095G= c.1558G= (p.Gly520=) n.821G= c.1774G= (p.Gly592=) c.1792G= (p.Gly598=) | |
17 | g.42323040C>G | CA399582819 | STAT3 | c.1852G>C (p.Gly618Arg) c.*244G>C (n.*244G>C) c.1825G>C (p.Gly609Arg) n.1305G>C c.*240G>C (n.*240G>C) c.1948G>C (p.Gly650Arg) n.2052G>C c.1831G>C (p.Gly611Arg) c.1768G>C (p.Gly590Arg) c.1867G>C (p.Gly623Arg) n.2289G>C c.1756G>C (p.Gly586Arg) n.2269G>C n.2095G>C c.1558G>C (p.Gly520Arg) n.821G>C c.1774G>C (p.Gly592Arg) c.1792G>C (p.Gly598Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42323040C>T | CA399582821 | STAT3 | c.1852G>A (p.Gly618Ser) c.*244G>A (n.*244G>A) c.1825G>A (p.Gly609Ser) n.1305G>A c.*240G>A (n.*240G>A) c.1948G>A (p.Gly650Ser) n.2052G>A c.1831G>A (p.Gly611Ser) c.1768G>A (p.Gly590Ser) c.1867G>A (p.Gly623Ser) n.2289G>A c.1756G>A (p.Gly586Ser) n.2269G>A n.2095G>A c.1558G>A (p.Gly520Ser) n.821G>A c.1774G>A (p.Gly592Ser) c.1792G>A (p.Gly598Ser) | dbSNP |
17 | g.42323041T>A | CA500061183 | STAT3 | c.1851A>T (p.Gly617=) c.*243A>T (n.*243A>T) c.1824A>T (p.Gly608=) n.1304A>T c.*239A>T (n.*239A>T) c.1947A>T (p.Gly649=) n.2051A>T c.1830A>T (p.Gly610=) c.1767A>T (p.Gly589=) c.1866A>T (p.Gly622=) n.2288A>T c.1755A>T (p.Gly585=) n.2268A>T n.2094A>T c.1557A>T (p.Gly519=) n.820A>T c.1773A>T (p.Gly591=) c.1791A>T (p.Gly597=) | |
17 | g.42323041T>C | CA500061184 | STAT3 | c.1851A>G (p.Gly617=) c.*243A>G (n.*243A>G) c.1824A>G (p.Gly608=) n.1304A>G c.*239A>G (n.*239A>G) c.1947A>G (p.Gly649=) n.2051A>G c.1830A>G (p.Gly610=) c.1767A>G (p.Gly589=) c.1866A>G (p.Gly622=) n.2288A>G c.1755A>G (p.Gly585=) n.2268A>G n.2094A>G c.1557A>G (p.Gly519=) n.820A>G c.1773A>G (p.Gly591=) c.1791A>G (p.Gly597=) | |
17 | g.42323041T>G | CA500061182 | STAT3 | c.1851A>C (p.Gly617=) c.*243A>C (n.*243A>C) c.1824A>C (p.Gly608=) n.1304A>C c.*239A>C (n.*239A>C) c.1947A>C (p.Gly649=) n.2051A>C c.1830A>C (p.Gly610=) c.1767A>C (p.Gly589=) c.1866A>C (p.Gly622=) n.2288A>C c.1755A>C (p.Gly585=) n.2268A>C n.2094A>C c.1557A>C (p.Gly519=) n.820A>C c.1773A>C (p.Gly591=) c.1791A>C (p.Gly597=) | |
17 | g.42323042C>A | CA399582827 | STAT3 | c.1850G>T (p.Gly617Val) c.*242G>T (n.*242G>T) c.1823G>T (p.Gly608Val) n.1303G>T c.*238G>T (n.*238G>T) c.1946G>T (p.Gly649Val) n.2050G>T c.1829G>T (p.Gly610Val) c.1766G>T (p.Gly589Val) c.1865G>T (p.Gly622Val) n.2287G>T c.1754G>T (p.Gly585Val) n.2267G>T n.2093G>T c.1556G>T (p.Gly519Val) n.819G>T c.1772G>T (p.Gly591Val) c.1790G>T (p.Gly597Val) | |
17 | g.42323042C>G | CA399582823 | STAT3 | c.1850G>C (p.Gly617Ala) c.*242G>C (n.*242G>C) c.1823G>C (p.Gly608Ala) n.1303G>C c.*238G>C (n.*238G>C) c.1946G>C (p.Gly649Ala) n.2050G>C c.1829G>C (p.Gly610Ala) c.1766G>C (p.Gly589Ala) c.1865G>C (p.Gly622Ala) n.2287G>C c.1754G>C (p.Gly585Ala) n.2267G>C n.2093G>C c.1556G>C (p.Gly519Ala) n.819G>C c.1772G>C (p.Gly591Ala) c.1790G>C (p.Gly597Ala) | |
17 | g.42323042C>T | CA399582825 | STAT3 | c.1850G>A (p.Gly617Glu) c.*242G>A (n.*242G>A) c.1823G>A (p.Gly608Glu) n.1303G>A c.*238G>A (n.*238G>A) c.1946G>A (p.Gly649Glu) n.2050G>A c.1829G>A (p.Gly610Glu) c.1766G>A (p.Gly589Glu) c.1865G>A (p.Gly622Glu) n.2287G>A c.1754G>A (p.Gly585Glu) n.2267G>A n.2093G>A c.1556G>A (p.Gly519Glu) n.819G>A c.1772G>A (p.Gly591Glu) c.1790G>A (p.Gly597Glu) | dbSNP |
17 | g.42323043C>A | CA399582829 | STAT3 | c.1849G>T (p.Gly617Ter) c.*241G>T (n.*241G>T) c.1822G>T (p.Gly608Ter) n.1302G>T c.*237G>T (n.*237G>T) c.1945G>T (p.Gly649Ter) n.2049G>T c.1828G>T (p.Gly610Ter) c.1765G>T (p.Gly589Ter) c.1864G>T (p.Gly622Ter) n.2286G>T c.1753G>T (p.Gly585Ter) n.2266G>T n.2092G>T c.1555G>T (p.Gly519Ter) n.818G>T c.1771G>T (p.Gly591Ter) c.1789G>T (p.Gly597Ter) | |
17 | g.42323043C>G | CA399582831 | STAT3 | c.1849G>C (p.Gly617Arg) c.*241G>C (n.*241G>C) c.1822G>C (p.Gly608Arg) n.1302G>C c.*237G>C (n.*237G>C) c.1945G>C (p.Gly649Arg) n.2049G>C c.1828G>C (p.Gly610Arg) c.1765G>C (p.Gly589Arg) c.1864G>C (p.Gly622Arg) n.2286G>C c.1753G>C (p.Gly585Arg) n.2266G>C n.2092G>C c.1555G>C (p.Gly519Arg) n.818G>C c.1771G>C (p.Gly591Arg) c.1789G>C (p.Gly597Arg) | |
17 | g.42323043C>T | CA399582833 | STAT3 | c.1849G>A (p.Gly617Arg) c.*241G>A (n.*241G>A) c.1822G>A (p.Gly608Arg) n.1302G>A c.*237G>A (n.*237G>A) c.1945G>A (p.Gly649Arg) n.2049G>A c.1828G>A (p.Gly610Arg) c.1765G>A (p.Gly589Arg) c.1864G>A (p.Gly622Arg) n.2286G>A c.1753G>A (p.Gly585Arg) n.2266G>A n.2092G>A c.1555G>A (p.Gly519Arg) n.818G>A c.1771G>A (p.Gly591Arg) c.1789G>A (p.Gly597Arg) | ClinVar dbSNP COSMIC |
17 | g.42323046_42323048del | CA645589640 | STAT3 | c.1847_1849del (p.Glu616del) c.*239_*241del (n.*239_*241del) c.1820_1822del (p.Glu607del) n.1300_1302del c.*235_*237del (n.*235_*237del) c.1943_1945del (p.Glu648del) n.2047_2049del c.1826_1828del (p.Glu609del) c.1763_1765del (p.Glu588del) c.1862_1864del (p.Glu621del) n.2284_2286del c.1751_1753del (p.Glu584del) n.2264_2266del n.2090_2092del c.1553_1555del (p.Glu518del) n.816_818del c.1769_1771del (p.Glu590del) c.1787_1789del (p.Glu596del) | dbSNP COSMIC COSMIC |
17 | g.42323043_42323050delinsTTTCA | CA2580093747 | STAT3 | c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg) c.*234_*241delinsTGAAA (n.*234_*241delinsTGAAA) c.1815_1822delinsTGAAA (p.Lys606_Gly608delinsGluArg) n.1295_1302delinsTGAAA c.*230_*237delinsTGAAA (n.*230_*237delinsTGAAA) c.1938_1945delinsTGAAA (p.Lys647_Gly649delinsGluArg) n.2042_2049delinsTGAAA c.1821_1828delinsTGAAA (p.Lys608_Gly610delinsGluArg) c.1758_1765delinsTGAAA (p.Lys587_Gly589delinsGluArg) c.1857_1864delinsTGAAA (p.Lys620_Gly622delinsGluArg) n.2279_2286delinsTGAAA c.1746_1753delinsTGAAA (p.Lys583_Gly585delinsGluArg) n.2259_2266delinsTGAAA n.2085_2092delinsTGAAA c.1548_1555delinsTGAAA (p.Lys517_Gly519delinsGluArg) n.811_818delinsTGAAA c.1764_1771delinsTGAAA (p.Lys589_Gly591delinsGluArg) c.1782_1789delinsTGAAA (p.Lys595_Gly597delinsGluArg) | ClinVar |
17 | g.42323044T>A | CA399582835 | STAT3 | c.1848A>T (p.Glu616Asp) c.*240A>T (n.*240A>T) c.1821A>T (p.Glu607Asp) n.1301A>T c.*236A>T (n.*236A>T) c.1944A>T (p.Glu648Asp) n.2048A>T c.1827A>T (p.Glu609Asp) c.1764A>T (p.Glu588Asp) c.1863A>T (p.Glu621Asp) n.2285A>T c.1752A>T (p.Glu584Asp) n.2265A>T n.2091A>T c.1554A>T (p.Glu518Asp) n.817A>T c.1770A>T (p.Glu590Asp) c.1788A>T (p.Glu596Asp) | |
17 | g.42323044T>C | CA500061185 | STAT3 | c.1848A>G (p.Glu616=) c.*240A>G (n.*240A>G) c.1821A>G (p.Glu607=) n.1301A>G c.*236A>G (n.*236A>G) c.1944A>G (p.Glu648=) n.2048A>G c.1827A>G (p.Glu609=) c.1764A>G (p.Glu588=) c.1863A>G (p.Glu621=) n.2285A>G c.1752A>G (p.Glu584=) n.2265A>G n.2091A>G c.1554A>G (p.Glu518=) n.817A>G c.1770A>G (p.Glu590=) c.1788A>G (p.Glu596=) | dbSNP |
17 | g.42323044T>G | CA399582837 | STAT3 | c.1848A>C (p.Glu616Asp) c.*240A>C (n.*240A>C) c.1821A>C (p.Glu607Asp) n.1301A>C c.*236A>C (n.*236A>C) c.1944A>C (p.Glu648Asp) n.2048A>C c.1827A>C (p.Glu609Asp) c.1764A>C (p.Glu588Asp) c.1863A>C (p.Glu621Asp) n.2285A>C c.1752A>C (p.Glu584Asp) n.2265A>C n.2091A>C c.1554A>C (p.Glu518Asp) n.817A>C c.1770A>C (p.Glu590Asp) c.1788A>C (p.Glu596Asp) | gnomAD v4 |
17 | g.42323045T>A | CA399582839 | STAT3 | c.1847A>T (p.Glu616Val) c.*239A>T (n.*239A>T) c.1820A>T (p.Glu607Val) n.1300A>T c.*235A>T (n.*235A>T) c.1943A>T (p.Glu648Val) n.2047A>T c.1826A>T (p.Glu609Val) c.1763A>T (p.Glu588Val) c.1862A>T (p.Glu621Val) n.2284A>T c.1751A>T (p.Glu584Val) n.2264A>T n.2090A>T c.1553A>T (p.Glu518Val) n.816A>T c.1769A>T (p.Glu590Val) c.1787A>T (p.Glu596Val) | |
17 | g.42323045T>C | CA399582841 | STAT3 | c.1847A>G (p.Glu616Gly) c.*239A>G (n.*239A>G) c.1820A>G (p.Glu607Gly) n.1300A>G c.*235A>G (n.*235A>G) c.1943A>G (p.Glu648Gly) n.2047A>G c.1826A>G (p.Glu609Gly) c.1763A>G (p.Glu588Gly) c.1862A>G (p.Glu621Gly) n.2284A>G c.1751A>G (p.Glu584Gly) n.2264A>G n.2090A>G c.1553A>G (p.Glu518Gly) n.816A>G c.1769A>G (p.Glu590Gly) c.1787A>G (p.Glu596Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.42323045T>G | CA399582843 | STAT3 | c.1847A>C (p.Glu616Ala) c.*239A>C (n.*239A>C) c.1820A>C (p.Glu607Ala) n.1300A>C c.*235A>C (n.*235A>C) c.1943A>C (p.Glu648Ala) n.2047A>C c.1826A>C (p.Glu609Ala) c.1763A>C (p.Glu588Ala) c.1862A>C (p.Glu621Ala) n.2284A>C c.1751A>C (p.Glu584Ala) n.2264A>C n.2090A>C c.1553A>C (p.Glu518Ala) n.816A>C c.1769A>C (p.Glu590Ala) c.1787A>C (p.Glu596Ala) | ClinVar |
17 | g.42323046C>A | CA399582844 | STAT3 | c.1846G>T (p.Glu616Ter) c.*238G>T (n.*238G>T) c.1819G>T (p.Glu607Ter) n.1299G>T c.*234G>T (n.*234G>T) c.1942G>T (p.Glu648Ter) n.2046G>T c.1825G>T (p.Glu609Ter) c.1762G>T (p.Glu588Ter) c.1861G>T (p.Glu621Ter) n.2283G>T c.1750G>T (p.Glu584Ter) n.2263G>T n.2089G>T c.1552G>T (p.Glu518Ter) n.815G>T c.1768G>T (p.Glu590Ter) c.1786G>T (p.Glu596Ter) | dbSNP |
17 | g.42323046C= | CA2260430983 | STAT3 | c.1846G= (p.Glu616=) c.*238G= (n.*238G=) c.1819G= (p.Glu607=) n.1299G= c.*234G= (n.*234G=) c.1942G= (p.Glu648=) n.2046G= c.1825G= (p.Glu609=) c.1762G= (p.Glu588=) c.1861G= (p.Glu621=) n.2283G= c.1750G= (p.Glu584=) n.2263G= n.2089G= c.1552G= (p.Glu518=) n.815G= c.1768G= (p.Glu590=) c.1786G= (p.Glu596=) | |
17 | g.42323046C>G | CA16620411 | STAT3 | c.1846G>C (p.Glu616Gln) c.*238G>C (n.*238G>C) c.1819G>C (p.Glu607Gln) n.1299G>C c.*234G>C (n.*234G>C) c.1942G>C (p.Glu648Gln) n.2046G>C c.1825G>C (p.Glu609Gln) c.1762G>C (p.Glu588Gln) c.1861G>C (p.Glu621Gln) n.2283G>C c.1750G>C (p.Glu584Gln) n.2263G>C n.2089G>C c.1552G>C (p.Glu518Gln) n.815G>C c.1768G>C (p.Glu590Gln) c.1786G>C (p.Glu596Gln) | ClinVar dbSNP |
17 | g.42323046C>T | CA399582847 | STAT3 | c.1846G>A (p.Glu616Lys) c.*238G>A (n.*238G>A) c.1819G>A (p.Glu607Lys) n.1299G>A c.*234G>A (n.*234G>A) c.1942G>A (p.Glu648Lys) n.2046G>A c.1825G>A (p.Glu609Lys) c.1762G>A (p.Glu588Lys) c.1861G>A (p.Glu621Lys) n.2283G>A c.1750G>A (p.Glu584Lys) n.2263G>A n.2089G>A c.1552G>A (p.Glu518Lys) n.815G>A c.1768G>A (p.Glu590Lys) c.1786G>A (p.Glu596Lys) | dbSNP COSMIC |
17 | g.42323047T>A | CA399582849 | STAT3 | c.1845A>T (p.Lys615Asn) c.*237A>T (n.*237A>T) c.1818A>T (p.Lys606Asn) n.1298A>T c.*233A>T (n.*233A>T) c.1941A>T (p.Lys647Asn) n.2045A>T c.1824A>T (p.Lys608Asn) c.1761A>T (p.Lys587Asn) c.1860A>T (p.Lys620Asn) n.2282A>T c.1749A>T (p.Lys583Asn) n.2262A>T n.2088A>T c.1551A>T (p.Lys517Asn) n.814A>T c.1767A>T (p.Lys589Asn) c.1785A>T (p.Lys595Asn) | dbSNP |
17 | g.42323047T>C | CA500061186 | STAT3 | c.1845A>G (p.Lys615=) c.*237A>G (n.*237A>G) c.1818A>G (p.Lys606=) n.1298A>G c.*233A>G (n.*233A>G) c.1941A>G (p.Lys647=) n.2045A>G c.1824A>G (p.Lys608=) c.1761A>G (p.Lys587=) c.1860A>G (p.Lys620=) n.2282A>G c.1749A>G (p.Lys583=) n.2262A>G n.2088A>G c.1551A>G (p.Lys517=) n.814A>G c.1767A>G (p.Lys589=) c.1785A>G (p.Lys595=) | dbSNP |
17 | g.42323047T>G | CA399582851 | STAT3 | c.1845A>C (p.Lys615Asn) c.*237A>C (n.*237A>C) c.1818A>C (p.Lys606Asn) n.1298A>C c.*233A>C (n.*233A>C) c.1941A>C (p.Lys647Asn) n.2045A>C c.1824A>C (p.Lys608Asn) c.1761A>C (p.Lys587Asn) c.1860A>C (p.Lys620Asn) n.2282A>C c.1749A>C (p.Lys583Asn) n.2262A>C n.2088A>C c.1551A>C (p.Lys517Asn) n.814A>C c.1767A>C (p.Lys589Asn) c.1785A>C (p.Lys595Asn) | COSMIC |
17 | g.42323048T>A | CA399582852 | STAT3 | c.1844A>T (p.Lys615Ile) c.*236A>T (n.*236A>T) c.1817A>T (p.Lys606Ile) n.1297A>T c.*232A>T (n.*232A>T) c.1940A>T (p.Lys647Ile) n.2044A>T c.1823A>T (p.Lys608Ile) c.1760A>T (p.Lys587Ile) c.1859A>T (p.Lys620Ile) n.2281A>T c.1748A>T (p.Lys583Ile) n.2261A>T n.2087A>T c.1550A>T (p.Lys517Ile) n.813A>T c.1766A>T (p.Lys589Ile) c.1784A>T (p.Lys595Ile) | |
17 | g.42323048T>C | CA399582856 | STAT3 | c.1844A>G (p.Lys615Arg) c.*236A>G (n.*236A>G) c.1817A>G (p.Lys606Arg) n.1297A>G c.*232A>G (n.*232A>G) c.1940A>G (p.Lys647Arg) n.2044A>G c.1823A>G (p.Lys608Arg) c.1760A>G (p.Lys587Arg) c.1859A>G (p.Lys620Arg) n.2281A>G c.1748A>G (p.Lys583Arg) n.2261A>G n.2087A>G c.1550A>G (p.Lys517Arg) n.813A>G c.1766A>G (p.Lys589Arg) c.1784A>G (p.Lys595Arg) | dbSNP COSMIC |
17 | g.42323048T>G | CA399582854 | STAT3 | c.1844A>C (p.Lys615Thr) c.*236A>C (n.*236A>C) c.1817A>C (p.Lys606Thr) n.1297A>C c.*232A>C (n.*232A>C) c.1940A>C (p.Lys647Thr) n.2044A>C c.1823A>C (p.Lys608Thr) c.1760A>C (p.Lys587Thr) c.1859A>C (p.Lys620Thr) n.2281A>C c.1748A>C (p.Lys583Thr) n.2261A>C n.2087A>C c.1550A>C (p.Lys517Thr) n.813A>C c.1766A>C (p.Lys589Thr) c.1784A>C (p.Lys595Thr) | |
17 | g.42323049T>A | CA399582858 | STAT3 | c.1843A>T (p.Lys615Ter) c.*235A>T (n.*235A>T) c.1816A>T (p.Lys606Ter) n.1296A>T c.*231A>T (n.*231A>T) c.1939A>T (p.Lys647Ter) n.2043A>T c.1822A>T (p.Lys608Ter) c.1759A>T (p.Lys587Ter) c.1858A>T (p.Lys620Ter) n.2280A>T c.1747A>T (p.Lys583Ter) n.2260A>T n.2086A>T c.1549A>T (p.Lys517Ter) n.812A>T c.1765A>T (p.Lys589Ter) c.1783A>T (p.Lys595Ter) | |
17 | g.42323049T>C | CA399582860 | STAT3 | c.1843A>G (p.Lys615Glu) c.*235A>G (n.*235A>G) c.1816A>G (p.Lys606Glu) n.1296A>G c.*231A>G (n.*231A>G) c.1939A>G (p.Lys647Glu) n.2043A>G c.1822A>G (p.Lys608Glu) c.1759A>G (p.Lys587Glu) c.1858A>G (p.Lys620Glu) n.2280A>G c.1747A>G (p.Lys583Glu) n.2260A>G n.2086A>G c.1549A>G (p.Lys517Glu) n.812A>G c.1765A>G (p.Lys589Glu) c.1783A>G (p.Lys595Glu) | ClinVar dbSNP |
17 | g.42323049T>G | CA399582862 | STAT3 | c.1843A>C (p.Lys615Gln) c.*235A>C (n.*235A>C) c.1816A>C (p.Lys606Gln) n.1296A>C c.*231A>C (n.*231A>C) c.1939A>C (p.Lys647Gln) n.2043A>C c.1822A>C (p.Lys608Gln) c.1759A>C (p.Lys587Gln) c.1858A>C (p.Lys620Gln) n.2280A>C c.1747A>C (p.Lys583Gln) n.2260A>C n.2086A>C c.1549A>C (p.Lys517Gln) n.812A>C c.1765A>C (p.Lys589Gln) c.1783A>C (p.Lys595Gln) | |
17 | g.42323049T= | CA2260430984 | STAT3 | c.1843A= (p.Lys615=) c.*235A= (n.*235A=) c.1816A= (p.Lys606=) n.1296A= c.*231A= (n.*231A=) c.1939A= (p.Lys647=) n.2043A= c.1822A= (p.Lys608=) c.1759A= (p.Lys587=) c.1858A= (p.Lys620=) n.2280A= c.1747A= (p.Lys583=) n.2260A= n.2086A= c.1549A= (p.Lys517=) n.812A= c.1765A= (p.Lys589=) c.1783A= (p.Lys595=) | |
17 | g.42323050G>A | CA500061187 | STAT3 | c.1842C>T (p.Ser614=) c.*234C>T (n.*234C>T) c.1815C>T (p.Ser605=) n.1295C>T c.*230C>T (n.*230C>T) c.1938C>T (p.Ser646=) n.2042C>T c.1821C>T (p.Ser607=) c.1758C>T (p.Ser586=) c.1857C>T (p.Ser619=) n.2279C>T c.1746C>T (p.Ser582=) n.2259C>T n.2085C>T c.1548C>T (p.Ser516=) n.811C>T c.1764C>T (p.Ser588=) c.1782C>T (p.Ser594=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42323050G>C | CA399582864 | STAT3 | c.1842C>G (p.Ser614Arg) c.*234C>G (n.*234C>G) c.1815C>G (p.Ser605Arg) n.1295C>G c.*230C>G (n.*230C>G) c.1938C>G (p.Ser646Arg) n.2042C>G c.1821C>G (p.Ser607Arg) c.1758C>G (p.Ser586Arg) c.1857C>G (p.Ser619Arg) n.2279C>G c.1746C>G (p.Ser582Arg) n.2259C>G n.2085C>G c.1548C>G (p.Ser516Arg) n.811C>G c.1764C>G (p.Ser588Arg) c.1782C>G (p.Ser594Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.42323050G= | CA2260430985 | STAT3 | c.1842C= (p.Ser614=) c.*234C= (n.*234C=) c.1815C= (p.Ser605=) n.1295C= c.*230C= (n.*230C=) c.1938C= (p.Ser646=) n.2042C= c.1821C= (p.Ser607=) c.1758C= (p.Ser586=) c.1857C= (p.Ser619=) n.2279C= c.1746C= (p.Ser582=) n.2259C= n.2085C= c.1548C= (p.Ser516=) n.811C= c.1764C= (p.Ser588=) c.1782C= (p.Ser594=) | |
17 | g.42323050G>T | CA399582866 | STAT3 | c.1842C>A (p.Ser614Arg) c.*234C>A (n.*234C>A) c.1815C>A (p.Ser605Arg) n.1295C>A c.*230C>A (n.*230C>A) c.1938C>A (p.Ser646Arg) n.2042C>A c.1821C>A (p.Ser607Arg) c.1758C>A (p.Ser586Arg) c.1857C>A (p.Ser619Arg) n.2279C>A c.1746C>A (p.Ser582Arg) n.2259C>A n.2085C>A c.1548C>A (p.Ser516Arg) n.811C>A c.1764C>A (p.Ser588Arg) c.1782C>A (p.Ser594Arg) | dbSNP COSMIC |
17 | g.42323051C>A | CA399582868 | STAT3 | c.1841G>T (p.Ser614Ile) c.*233G>T (n.*233G>T) c.1814G>T (p.Ser605Ile) n.1294G>T c.*229G>T (n.*229G>T) c.1937G>T (p.Ser646Ile) n.2041G>T c.1820G>T (p.Ser607Ile) c.1757G>T (p.Ser586Ile) c.1856G>T (p.Ser619Ile) n.2278G>T c.1745G>T (p.Ser582Ile) n.2258G>T n.2084G>T c.1547G>T (p.Ser516Ile) n.810G>T c.1763G>T (p.Ser588Ile) c.1781G>T (p.Ser594Ile) | |
17 | g.42323051C>G | CA399582869 | STAT3 | c.1841G>C (p.Ser614Thr) c.*233G>C (n.*233G>C) c.1814G>C (p.Ser605Thr) n.1294G>C c.*229G>C (n.*229G>C) c.1937G>C (p.Ser646Thr) n.2041G>C c.1820G>C (p.Ser607Thr) c.1757G>C (p.Ser586Thr) c.1856G>C (p.Ser619Thr) n.2278G>C c.1745G>C (p.Ser582Thr) n.2258G>C n.2084G>C c.1547G>C (p.Ser516Thr) n.810G>C c.1763G>C (p.Ser588Thr) c.1781G>C (p.Ser594Thr) | dbSNP |
17 | g.42323051C>T | CA399582871 | STAT3 | c.1841G>A (p.Ser614Asn) c.*233G>A (n.*233G>A) c.1814G>A (p.Ser605Asn) n.1294G>A c.*229G>A (n.*229G>A) c.1937G>A (p.Ser646Asn) n.2041G>A c.1820G>A (p.Ser607Asn) c.1757G>A (p.Ser586Asn) c.1856G>A (p.Ser619Asn) n.2278G>A c.1745G>A (p.Ser582Asn) n.2258G>A n.2084G>A c.1547G>A (p.Ser516Asn) n.810G>A c.1763G>A (p.Ser588Asn) c.1781G>A (p.Ser594Asn) | dbSNP |
17 | g.42323052T>A | CA399582873 | STAT3 | c.1840A>T (p.Ser614Cys) c.*232A>T (n.*232A>T) c.1813A>T (p.Ser605Cys) n.1293A>T c.*228A>T (n.*228A>T) c.1936A>T (p.Ser646Cys) n.2040A>T c.1819A>T (p.Ser607Cys) c.1756A>T (p.Ser586Cys) c.1855A>T (p.Ser619Cys) n.2277A>T c.1744A>T (p.Ser582Cys) n.2257A>T n.2083A>T c.1546A>T (p.Ser516Cys) n.809A>T c.1762A>T (p.Ser588Cys) c.1780A>T (p.Ser594Cys) | |
17 | g.42323052T>C | CA10588651 | STAT3 | c.1840A>G (p.Ser614Gly) c.*232A>G (n.*232A>G) c.1813A>G (p.Ser605Gly) n.1293A>G c.*228A>G (n.*228A>G) c.1936A>G (p.Ser646Gly) n.2040A>G c.1819A>G (p.Ser607Gly) c.1756A>G (p.Ser586Gly) c.1855A>G (p.Ser619Gly) n.2277A>G c.1744A>G (p.Ser582Gly) n.2257A>G n.2083A>G c.1546A>G (p.Ser516Gly) n.809A>G c.1762A>G (p.Ser588Gly) c.1780A>G (p.Ser594Gly) | ClinVar dbSNP |
17 | g.42323052T>G | CA399582876 | STAT3 | c.1840A>C (p.Ser614Arg) c.*232A>C (n.*232A>C) c.1813A>C (p.Ser605Arg) n.1293A>C c.*228A>C (n.*228A>C) c.1936A>C (p.Ser646Arg) n.2040A>C c.1819A>C (p.Ser607Arg) c.1756A>C (p.Ser586Arg) c.1855A>C (p.Ser619Arg) n.2277A>C c.1744A>C (p.Ser582Arg) n.2257A>C n.2083A>C c.1546A>C (p.Ser516Arg) n.809A>C c.1762A>C (p.Ser588Arg) c.1780A>C (p.Ser594Arg) | ClinVar dbSNP COSMIC |
17 | g.42323052T= | CA2260430986 | STAT3 | c.1840A= (p.Ser614=) c.*232A= (n.*232A=) c.1813A= (p.Ser605=) n.1293A= c.*228A= (n.*228A=) c.1936A= (p.Ser646=) n.2040A= c.1819A= (p.Ser607=) c.1756A= (p.Ser586=) c.1855A= (p.Ser619=) n.2277A= c.1744A= (p.Ser582=) n.2257A= n.2083A= c.1546A= (p.Ser516=) n.809A= c.1762A= (p.Ser588=) c.1780A= (p.Ser594=) | |
17 | g.42323053G>A | CA500061188 | STAT3 | c.1839C>T (p.Ser613=) c.*231C>T (n.*231C>T) c.1812C>T (p.Ser604=) n.1292C>T c.*227C>T (n.*227C>T) c.1935C>T (p.Ser645=) n.2039C>T c.1818C>T (p.Ser606=) c.1755C>T (p.Ser585=) c.1854C>T (p.Ser618=) n.2276C>T c.1743C>T (p.Ser581=) n.2256C>T n.2082C>T c.1545C>T (p.Ser515=) n.808C>T c.1761C>T (p.Ser587=) c.1779C>T (p.Ser593=) | dbSNP gnomAD v4 |
17 | g.42323053G>C | CA399582878 | STAT3 | c.1839C>G (p.Ser613Arg) c.*231C>G (n.*231C>G) c.1812C>G (p.Ser604Arg) n.1292C>G c.*227C>G (n.*227C>G) c.1935C>G (p.Ser645Arg) n.2039C>G c.1818C>G (p.Ser606Arg) c.1755C>G (p.Ser585Arg) c.1854C>G (p.Ser618Arg) n.2276C>G c.1743C>G (p.Ser581Arg) n.2256C>G n.2082C>G c.1545C>G (p.Ser515Arg) n.808C>G c.1761C>G (p.Ser587Arg) c.1779C>G (p.Ser593Arg) | dbSNP |
17 | g.42323053G>T | CA399582880 | STAT3 | c.1839C>A (p.Ser613Arg) c.*231C>A (n.*231C>A) c.1812C>A (p.Ser604Arg) n.1292C>A c.*227C>A (n.*227C>A) c.1935C>A (p.Ser645Arg) n.2039C>A c.1818C>A (p.Ser606Arg) c.1755C>A (p.Ser585Arg) c.1854C>A (p.Ser618Arg) n.2276C>A c.1743C>A (p.Ser581Arg) n.2256C>A n.2082C>A c.1545C>A (p.Ser515Arg) n.808C>A c.1761C>A (p.Ser587Arg) c.1779C>A (p.Ser593Arg) | dbSNP |
17 | g.42323054C>A | CA399582882 | STAT3 | c.1838G>T (p.Ser613Ile) c.*230G>T (n.*230G>T) c.1811G>T (p.Ser604Ile) n.1291G>T c.*226G>T (n.*226G>T) c.1934G>T (p.Ser645Ile) n.2038G>T c.1817G>T (p.Ser606Ile) c.1754G>T (p.Ser585Ile) c.1853G>T (p.Ser618Ile) n.2275G>T c.1742G>T (p.Ser581Ile) n.2255G>T n.2081G>T c.1544G>T (p.Ser515Ile) n.807G>T c.1760G>T (p.Ser587Ile) c.1778G>T (p.Ser593Ile) | |
17 | g.42323054C>G | CA399582886 | STAT3 | c.1838G>C (p.Ser613Thr) c.*230G>C (n.*230G>C) c.1811G>C (p.Ser604Thr) n.1291G>C c.*226G>C (n.*226G>C) c.1934G>C (p.Ser645Thr) n.2038G>C c.1817G>C (p.Ser606Thr) c.1754G>C (p.Ser585Thr) c.1853G>C (p.Ser618Thr) n.2275G>C c.1742G>C (p.Ser581Thr) n.2255G>C n.2081G>C c.1544G>C (p.Ser515Thr) n.807G>C c.1760G>C (p.Ser587Thr) c.1778G>C (p.Ser593Thr) | |
17 | g.42323054C>T | CA399582884 | STAT3 | c.1838G>A (p.Ser613Asn) c.*230G>A (n.*230G>A) c.1811G>A (p.Ser604Asn) n.1291G>A c.*226G>A (n.*226G>A) c.1934G>A (p.Ser645Asn) n.2038G>A c.1817G>A (p.Ser606Asn) c.1754G>A (p.Ser585Asn) c.1853G>A (p.Ser618Asn) n.2275G>A c.1742G>A (p.Ser581Asn) n.2255G>A n.2081G>A c.1544G>A (p.Ser515Asn) n.807G>A c.1760G>A (p.Ser587Asn) c.1778G>A (p.Ser593Asn) | |
17 | g.42323055T>A | CA399582888 | STAT3 | c.1837A>T (p.Ser613Cys) c.*229A>T (n.*229A>T) c.1810A>T (p.Ser604Cys) n.1290A>T c.*225A>T (n.*225A>T) c.1933A>T (p.Ser645Cys) n.2037A>T c.1816A>T (p.Ser606Cys) c.1753A>T (p.Ser585Cys) c.1852A>T (p.Ser618Cys) n.2274A>T c.1741A>T (p.Ser581Cys) n.2254A>T n.2080A>T c.1543A>T (p.Ser515Cys) n.806A>T c.1759A>T (p.Ser587Cys) c.1777A>T (p.Ser593Cys) | |
17 | g.42323055T>C | CA399582890 | STAT3 | c.1837A>G (p.Ser613Gly) c.*229A>G (n.*229A>G) c.1810A>G (p.Ser604Gly) n.1290A>G c.*225A>G (n.*225A>G) c.1933A>G (p.Ser645Gly) n.2037A>G c.1816A>G (p.Ser606Gly) c.1753A>G (p.Ser585Gly) c.1852A>G (p.Ser618Gly) n.2274A>G c.1741A>G (p.Ser581Gly) n.2254A>G n.2080A>G c.1543A>G (p.Ser515Gly) n.806A>G c.1759A>G (p.Ser587Gly) c.1777A>G (p.Ser593Gly) | dbSNP |
17 | g.42323055T>G | CA399582891 | STAT3 | c.1837A>C (p.Ser613Arg) c.*229A>C (n.*229A>C) c.1810A>C (p.Ser604Arg) n.1290A>C c.*225A>C (n.*225A>C) c.1933A>C (p.Ser645Arg) n.2037A>C c.1816A>C (p.Ser606Arg) c.1753A>C (p.Ser585Arg) c.1852A>C (p.Ser618Arg) n.2274A>C c.1741A>C (p.Ser581Arg) n.2254A>C n.2080A>C c.1543A>C (p.Ser515Arg) n.806A>C c.1759A>C (p.Ser587Arg) c.1777A>C (p.Ser593Arg) | |
17 | g.42323056T>A | CA399582893 | STAT3 | c.1836A>T (p.Glu612Asp) c.*228A>T (n.*228A>T) c.1809A>T (p.Glu603Asp) n.1289A>T c.*224A>T (n.*224A>T) c.1932A>T (p.Glu644Asp) n.2036A>T c.1815A>T (p.Glu605Asp) c.1752A>T (p.Glu584Asp) c.1851A>T (p.Glu617Asp) n.2273A>T c.1740A>T (p.Glu580Asp) n.2253A>T n.2079A>T c.1542A>T (p.Glu514Asp) n.805A>T c.1758A>T (p.Glu586Asp) c.1776A>T (p.Glu592Asp) | dbSNP |
17 | g.42323056T>C | CA500061189 | STAT3 | c.1836A>G (p.Glu612=) c.*228A>G (n.*228A>G) c.1809A>G (p.Glu603=) n.1289A>G c.*224A>G (n.*224A>G) c.1932A>G (p.Glu644=) n.2036A>G c.1815A>G (p.Glu605=) c.1752A>G (p.Glu584=) c.1851A>G (p.Glu617=) n.2273A>G c.1740A>G (p.Glu580=) n.2253A>G n.2079A>G c.1542A>G (p.Glu514=) n.805A>G c.1758A>G (p.Glu586=) c.1776A>G (p.Glu592=) | |
17 | g.42323056T>G | CA399582894 | STAT3 | c.1836A>C (p.Glu612Asp) c.*228A>C (n.*228A>C) c.1809A>C (p.Glu603Asp) n.1289A>C c.*224A>C (n.*224A>C) c.1932A>C (p.Glu644Asp) n.2036A>C c.1815A>C (p.Glu605Asp) c.1752A>C (p.Glu584Asp) c.1851A>C (p.Glu617Asp) n.2273A>C c.1740A>C (p.Glu580Asp) n.2253A>C n.2079A>C c.1542A>C (p.Glu514Asp) n.805A>C c.1758A>C (p.Glu586Asp) c.1776A>C (p.Glu592Asp) | |
17 | g.42323057T>A | CA399582897 | STAT3 | c.1835A>T (p.Glu612Val) c.*227A>T (n.*227A>T) c.1808A>T (p.Glu603Val) n.1288A>T c.*223A>T (n.*223A>T) c.1931A>T (p.Glu644Val) n.2035A>T c.1814A>T (p.Glu605Val) c.1751A>T (p.Glu584Val) c.1850A>T (p.Glu617Val) n.2272A>T c.1739A>T (p.Glu580Val) n.2252A>T n.2078A>T c.1541A>T (p.Glu514Val) n.804A>T c.1757A>T (p.Glu586Val) c.1775A>T (p.Glu592Val) | dbSNP |
17 | g.42323057T>C | CA399582899 | STAT3 | c.1835A>G (p.Glu612Gly) c.*227A>G (n.*227A>G) c.1808A>G (p.Glu603Gly) n.1288A>G c.*223A>G (n.*223A>G) c.1931A>G (p.Glu644Gly) n.2035A>G c.1814A>G (p.Glu605Gly) c.1751A>G (p.Glu584Gly) c.1850A>G (p.Glu617Gly) n.2272A>G c.1739A>G (p.Glu580Gly) n.2252A>G n.2078A>G c.1541A>G (p.Glu514Gly) n.804A>G c.1757A>G (p.Glu586Gly) c.1775A>G (p.Glu592Gly) | |
17 | g.42323057T>G | CA399582900 | STAT3 | c.1835A>C (p.Glu612Ala) c.*227A>C (n.*227A>C) c.1808A>C (p.Glu603Ala) n.1288A>C c.*223A>C (n.*223A>C) c.1931A>C (p.Glu644Ala) n.2035A>C c.1814A>C (p.Glu605Ala) c.1751A>C (p.Glu584Ala) c.1850A>C (p.Glu617Ala) n.2272A>C c.1739A>C (p.Glu580Ala) n.2252A>C n.2078A>C c.1541A>C (p.Glu514Ala) n.804A>C c.1757A>C (p.Glu586Ala) c.1775A>C (p.Glu592Ala) | dbSNP |
17 | g.42323058C>A | CA399582902 | STAT3 | c.1834G>T (p.Glu612Ter) c.*226G>T (n.*226G>T) c.1807G>T (p.Glu603Ter) n.1287G>T c.*222G>T (n.*222G>T) c.1930G>T (p.Glu644Ter) n.2034G>T c.1813G>T (p.Glu605Ter) c.1750G>T (p.Glu584Ter) c.1849G>T (p.Glu617Ter) n.2271G>T c.1738G>T (p.Glu580Ter) n.2251G>T n.2077G>T c.1540G>T (p.Glu514Ter) n.803G>T c.1756G>T (p.Glu586Ter) c.1774G>T (p.Glu592Ter) | |
17 | g.42323058C>G | CA399582907 | STAT3 | c.1834G>C (p.Glu612Gln) c.*226G>C (n.*226G>C) c.1807G>C (p.Glu603Gln) n.1287G>C c.*222G>C (n.*222G>C) c.1930G>C (p.Glu644Gln) n.2034G>C c.1813G>C (p.Glu605Gln) c.1750G>C (p.Glu584Gln) c.1849G>C (p.Glu617Gln) n.2271G>C c.1738G>C (p.Glu580Gln) n.2251G>C n.2077G>C c.1540G>C (p.Glu514Gln) n.803G>C c.1756G>C (p.Glu586Gln) c.1774G>C (p.Glu592Gln) | |
17 | g.42323058C>T | CA399582909 | STAT3 | c.1834G>A (p.Glu612Lys) c.*226G>A (n.*226G>A) c.1807G>A (p.Glu603Lys) n.1287G>A c.*222G>A (n.*222G>A) c.1930G>A (p.Glu644Lys) n.2034G>A c.1813G>A (p.Glu605Lys) c.1750G>A (p.Glu584Lys) c.1849G>A (p.Glu617Lys) n.2271G>A c.1738G>A (p.Glu580Lys) n.2251G>A n.2077G>A c.1540G>A (p.Glu514Lys) n.803G>A c.1756G>A (p.Glu586Lys) c.1774G>A (p.Glu592Lys) | |
17 | g.42323059A>C | CA399582911 | STAT3 | c.1833T>G (p.Ser611Arg) c.*225T>G (n.*225T>G) c.1806T>G (p.Ser602Arg) n.1286T>G c.*221T>G (n.*221T>G) c.1929T>G (p.Ser643Arg) n.2033T>G c.1812T>G (p.Ser604Arg) c.1749T>G (p.Ser583Arg) c.1848T>G (p.Ser616Arg) n.2270T>G c.1737T>G (p.Ser579Arg) n.2250T>G n.2076T>G c.1539T>G (p.Ser513Arg) n.802T>G c.1755T>G (p.Ser585Arg) c.1773T>G (p.Ser591Arg) | |
17 | g.42323059A>G | CA500061190 | STAT3 | c.1833T>C (p.Ser611=) c.*225T>C (n.*225T>C) c.1806T>C (p.Ser602=) n.1286T>C c.*221T>C (n.*221T>C) c.1929T>C (p.Ser643=) n.2033T>C c.1812T>C (p.Ser604=) c.1749T>C (p.Ser583=) c.1848T>C (p.Ser616=) n.2270T>C c.1737T>C (p.Ser579=) n.2250T>C n.2076T>C c.1539T>C (p.Ser513=) n.802T>C c.1755T>C (p.Ser585=) c.1773T>C (p.Ser591=) | |
17 | g.42323059A>T | CA399582913 | STAT3 | c.1833T>A (p.Ser611Arg) c.*225T>A (n.*225T>A) c.1806T>A (p.Ser602Arg) n.1286T>A c.*221T>A (n.*221T>A) c.1929T>A (p.Ser643Arg) n.2033T>A c.1812T>A (p.Ser604Arg) c.1749T>A (p.Ser583Arg) c.1848T>A (p.Ser616Arg) n.2270T>A c.1737T>A (p.Ser579Arg) n.2250T>A n.2076T>A c.1539T>A (p.Ser513Arg) n.802T>A c.1755T>A (p.Ser585Arg) c.1773T>A (p.Ser591Arg) | dbSNP |
17 | g.42323060C>A | CA399582915 | STAT3 | c.1832G>T (p.Ser611Ile) c.*224G>T (n.*224G>T) c.1805G>T (p.Ser602Ile) n.1285G>T c.*220G>T (n.*220G>T) c.1928G>T (p.Ser643Ile) n.2032G>T c.1811G>T (p.Ser604Ile) c.1748G>T (p.Ser583Ile) c.1847G>T (p.Ser616Ile) n.2269G>T c.1736G>T (p.Ser579Ile) n.2249G>T n.2075G>T c.1538G>T (p.Ser513Ile) n.801G>T c.1754G>T (p.Ser585Ile) c.1772G>T (p.Ser591Ile) | dbSNP |
17 | g.42323060C>G | CA399582919 | STAT3 | c.1832G>C (p.Ser611Thr) c.*224G>C (n.*224G>C) c.1805G>C (p.Ser602Thr) n.1285G>C c.*220G>C (n.*220G>C) c.1928G>C (p.Ser643Thr) n.2032G>C c.1811G>C (p.Ser604Thr) c.1748G>C (p.Ser583Thr) c.1847G>C (p.Ser616Thr) n.2269G>C c.1736G>C (p.Ser579Thr) n.2249G>C n.2075G>C c.1538G>C (p.Ser513Thr) n.801G>C c.1754G>C (p.Ser585Thr) c.1772G>C (p.Ser591Thr) | dbSNP |
17 | g.42323060C>T | CA399582917 | STAT3 | c.1832G>A (p.Ser611Asn) c.*224G>A (n.*224G>A) c.1805G>A (p.Ser602Asn) n.1285G>A c.*220G>A (n.*220G>A) c.1928G>A (p.Ser643Asn) n.2032G>A c.1811G>A (p.Ser604Asn) c.1748G>A (p.Ser583Asn) c.1847G>A (p.Ser616Asn) n.2269G>A c.1736G>A (p.Ser579Asn) n.2249G>A n.2075G>A c.1538G>A (p.Ser513Asn) n.801G>A c.1754G>A (p.Ser585Asn) c.1772G>A (p.Ser591Asn) | dbSNP |
17 | g.42323061T>A | CA399582921 | STAT3 | c.1831A>T (p.Ser611Cys) c.*223A>T (n.*223A>T) c.1804A>T (p.Ser602Cys) n.1284A>T c.*219A>T (n.*219A>T) c.1927A>T (p.Ser643Cys) n.2031A>T c.1810A>T (p.Ser604Cys) c.1747A>T (p.Ser583Cys) c.1846A>T (p.Ser616Cys) n.2268A>T c.1735A>T (p.Ser579Cys) n.2248A>T n.2074A>T c.1537A>T (p.Ser513Cys) n.800A>T c.1753A>T (p.Ser585Cys) c.1771A>T (p.Ser591Cys) | dbSNP |
17 | g.42323061T>C | CA399582925 | STAT3 | c.1831A>G (p.Ser611Gly) c.*223A>G (n.*223A>G) c.1804A>G (p.Ser602Gly) n.1284A>G c.*219A>G (n.*219A>G) c.1927A>G (p.Ser643Gly) n.2031A>G c.1810A>G (p.Ser604Gly) c.1747A>G (p.Ser583Gly) c.1846A>G (p.Ser616Gly) n.2268A>G c.1735A>G (p.Ser579Gly) n.2248A>G n.2074A>G c.1537A>G (p.Ser513Gly) n.800A>G c.1753A>G (p.Ser585Gly) c.1771A>G (p.Ser591Gly) | ClinVar dbSNP |
17 | g.42323061T>G | CA399582923 | STAT3 | c.1831A>C (p.Ser611Arg) c.*223A>C (n.*223A>C) c.1804A>C (p.Ser602Arg) n.1284A>C c.*219A>C (n.*219A>C) c.1927A>C (p.Ser643Arg) n.2031A>C c.1810A>C (p.Ser604Arg) c.1747A>C (p.Ser583Arg) c.1846A>C (p.Ser616Arg) n.2268A>C c.1735A>C (p.Ser579Arg) n.2248A>C n.2074A>C c.1537A>C (p.Ser513Arg) n.800A>C c.1753A>C (p.Ser585Arg) c.1771A>C (p.Ser591Arg) | |
17 | g.42323061T= | CA2260430987 | STAT3 | c.1831A= (p.Ser611=) c.*223A= (n.*223A=) c.1804A= (p.Ser602=) n.1284A= c.*219A= (n.*219A=) c.1927A= (p.Ser643=) n.2031A= c.1810A= (p.Ser604=) c.1747A= (p.Ser583=) c.1846A= (p.Ser616=) n.2268A= c.1735A= (p.Ser579=) n.2248A= n.2074A= c.1537A= (p.Ser513=) n.800A= c.1753A= (p.Ser585=) c.1771A= (p.Ser591=) | |
17 | g.42323062G>A | CA500061191 | STAT3 | c.1830C>T (p.Phe610=) c.*222C>T (n.*222C>T) c.1803C>T (p.Phe601=) n.1283C>T c.*218C>T (n.*218C>T) c.1926C>T (p.Phe642=) n.2030C>T c.1809C>T (p.Phe603=) c.1746C>T (p.Phe582=) c.1845C>T (p.Phe615=) n.2267C>T c.1734C>T (p.Phe578=) n.2247C>T n.2073C>T c.1536C>T (p.Phe512=) n.799C>T c.1752C>T (p.Phe584=) c.1770C>T (p.Phe590=) | dbSNP |
17 | g.42323062G>C | CA399582926 | STAT3 | c.1830C>G (p.Phe610Leu) c.*222C>G (n.*222C>G) c.1803C>G (p.Phe601Leu) n.1283C>G c.*218C>G (n.*218C>G) c.1926C>G (p.Phe642Leu) n.2030C>G c.1809C>G (p.Phe603Leu) c.1746C>G (p.Phe582Leu) c.1845C>G (p.Phe615Leu) n.2267C>G c.1734C>G (p.Phe578Leu) n.2247C>G n.2073C>G c.1536C>G (p.Phe512Leu) n.799C>G c.1752C>G (p.Phe584Leu) c.1770C>G (p.Phe590Leu) | dbSNP |
17 | g.42323062G>T | CA399582927 | STAT3 | c.1830C>A (p.Phe610Leu) c.*222C>A (n.*222C>A) c.1803C>A (p.Phe601Leu) n.1283C>A c.*218C>A (n.*218C>A) c.1926C>A (p.Phe642Leu) n.2030C>A c.1809C>A (p.Phe603Leu) c.1746C>A (p.Phe582Leu) c.1845C>A (p.Phe615Leu) n.2267C>A c.1734C>A (p.Phe578Leu) n.2247C>A n.2073C>A c.1536C>A (p.Phe512Leu) n.799C>A c.1752C>A (p.Phe584Leu) c.1770C>A (p.Phe590Leu) | dbSNP |
17 | g.42323063A>C | CA399582929 | STAT3 | c.1829T>G (p.Phe610Cys) c.*221T>G (n.*221T>G) c.1802T>G (p.Phe601Cys) n.1282T>G c.*217T>G (n.*217T>G) c.1925T>G (p.Phe642Cys) n.2029T>G c.1808T>G (p.Phe603Cys) c.1745T>G (p.Phe582Cys) c.1844T>G (p.Phe615Cys) n.2266T>G c.1733T>G (p.Phe578Cys) n.2246T>G n.2072T>G c.1535T>G (p.Phe512Cys) n.798T>G c.1751T>G (p.Phe584Cys) c.1769T>G (p.Phe590Cys) | |
17 | g.42323063A>G | CA399582931 | STAT3 | c.1829T>C (p.Phe610Ser) c.*221T>C (n.*221T>C) c.1802T>C (p.Phe601Ser) n.1282T>C c.*217T>C (n.*217T>C) c.1925T>C (p.Phe642Ser) n.2029T>C c.1808T>C (p.Phe603Ser) c.1745T>C (p.Phe582Ser) c.1844T>C (p.Phe615Ser) n.2266T>C c.1733T>C (p.Phe578Ser) n.2246T>C n.2072T>C c.1535T>C (p.Phe512Ser) n.798T>C c.1751T>C (p.Phe584Ser) c.1769T>C (p.Phe590Ser) | dbSNP |
17 | g.42323063A>T | CA399582932 | STAT3 | c.1829T>A (p.Phe610Tyr) c.*221T>A (n.*221T>A) c.1802T>A (p.Phe601Tyr) n.1282T>A c.*217T>A (n.*217T>A) c.1925T>A (p.Phe642Tyr) n.2029T>A c.1808T>A (p.Phe603Tyr) c.1745T>A (p.Phe582Tyr) c.1844T>A (p.Phe615Tyr) n.2266T>A c.1733T>A (p.Phe578Tyr) n.2246T>A n.2072T>A c.1535T>A (p.Phe512Tyr) n.798T>A c.1751T>A (p.Phe584Tyr) c.1769T>A (p.Phe590Tyr) | dbSNP |
17 | g.42323064A>C | CA399582934 | STAT3 | c.1828T>G (p.Phe610Val) c.*220T>G (n.*220T>G) c.1801T>G (p.Phe601Val) n.1281T>G c.*216T>G (n.*216T>G) c.1924T>G (p.Phe642Val) n.2028T>G c.1807T>G (p.Phe603Val) c.1744T>G (p.Phe582Val) c.1843T>G (p.Phe615Val) n.2265T>G c.1732T>G (p.Phe578Val) n.2245T>G n.2071T>G c.1534T>G (p.Phe512Val) n.797T>G n.559T>G c.1750T>G (p.Phe584Val) c.1768T>G (p.Phe590Val) | |
17 | g.42323064A>G | CA399582936 | STAT3 | c.1828T>C (p.Phe610Leu) c.*220T>C (n.*220T>C) c.1801T>C (p.Phe601Leu) n.1281T>C c.*216T>C (n.*216T>C) c.1924T>C (p.Phe642Leu) n.2028T>C c.1807T>C (p.Phe603Leu) c.1744T>C (p.Phe582Leu) c.1843T>C (p.Phe615Leu) n.2265T>C c.1732T>C (p.Phe578Leu) n.2245T>C n.2071T>C c.1534T>C (p.Phe512Leu) n.797T>C n.559T>C c.1750T>C (p.Phe584Leu) c.1768T>C (p.Phe590Leu) | dbSNP |
17 | g.42323064A>T | CA399582937 | STAT3 | c.1828T>A (p.Phe610Ile) c.*220T>A (n.*220T>A) c.1801T>A (p.Phe601Ile) n.1281T>A c.*216T>A (n.*216T>A) c.1924T>A (p.Phe642Ile) n.2028T>A c.1807T>A (p.Phe603Ile) c.1744T>A (p.Phe582Ile) c.1843T>A (p.Phe615Ile) n.2265T>A c.1732T>A (p.Phe578Ile) n.2245T>A n.2071T>A c.1534T>A (p.Phe512Ile) n.797T>A n.559T>A c.1750T>A (p.Phe584Ile) c.1768T>A (p.Phe590Ile) | dbSNP |
17 | g.42323065T>A | CA399582939 | STAT3 | c.1827A>T (p.Arg609Ser) c.*219A>T (n.*219A>T) c.1800A>T (p.Arg600Ser) n.1280A>T c.*215A>T (n.*215A>T) c.1923A>T (p.Arg641Ser) n.2027A>T c.1806A>T (p.Arg602Ser) c.1743A>T (p.Arg581Ser) c.1842A>T (p.Arg614Ser) n.2264A>T c.1731A>T (p.Arg577Ser) n.2244A>T n.2070A>T c.1533A>T (p.Arg511Ser) n.796A>T n.558A>T c.1749A>T (p.Arg583Ser) c.1767A>T (p.Arg589Ser) | ClinVar dbSNP |
17 | g.42323065T>C | CA500061192 | STAT3 | c.1827A>G (p.Arg609=) c.*219A>G (n.*219A>G) c.1800A>G (p.Arg600=) n.1280A>G c.*215A>G (n.*215A>G) c.1923A>G (p.Arg641=) n.2027A>G c.1806A>G (p.Arg602=) c.1743A>G (p.Arg581=) c.1842A>G (p.Arg614=) n.2264A>G c.1731A>G (p.Arg577=) n.2244A>G n.2070A>G c.1533A>G (p.Arg511=) n.796A>G n.558A>G c.1749A>G (p.Arg583=) c.1767A>G (p.Arg589=) | gnomAD v4 |
17 | g.42323065T>G | CA290732396 | STAT3 | c.1827A>C (p.Arg609Ser) c.*219A>C (n.*219A>C) c.1800A>C (p.Arg600Ser) n.1280A>C c.*215A>C (n.*215A>C) c.1923A>C (p.Arg641Ser) n.2027A>C c.1806A>C (p.Arg602Ser) c.1743A>C (p.Arg581Ser) c.1842A>C (p.Arg614Ser) n.2264A>C c.1731A>C (p.Arg577Ser) n.2244A>C n.2070A>C c.1533A>C (p.Arg511Ser) n.796A>C n.558A>C c.1749A>C (p.Arg583Ser) c.1767A>C (p.Arg589Ser) | dbSNP |
17 | g.42323065T= | CA2260430988 | STAT3 | c.1827A= (p.Arg609=) c.*219A= (n.*219A=) c.1800A= (p.Arg600=) n.1280A= c.*215A= (n.*215A=) c.1923A= (p.Arg641=) n.2027A= c.1806A= (p.Arg602=) c.1743A= (p.Arg581=) c.1842A= (p.Arg614=) n.2264A= c.1731A= (p.Arg577=) n.2244A= n.2070A= c.1533A= (p.Arg511=) n.796A= n.558A= c.1749A= (p.Arg583=) c.1767A= (p.Arg589=) | |
17 | g.42323066C>A | CA399582943 | STAT3 | c.1826G>T (p.Arg609Ile) c.*218G>T (n.*218G>T) c.1799G>T (p.Arg600Ile) n.1279G>T c.*214G>T (n.*214G>T) c.1922G>T (p.Arg641Ile) n.2026G>T c.1805G>T (p.Arg602Ile) c.1742G>T (p.Arg581Ile) c.1841G>T (p.Arg614Ile) n.2263G>T c.1730G>T (p.Arg577Ile) n.2243G>T n.2069G>T c.1532G>T (p.Arg511Ile) n.795G>T n.557G>T c.1748G>T (p.Arg583Ile) c.1766G>T (p.Arg589Ile) | dbSNP |
17 | g.42323066C>G | CA399582944 | STAT3 | c.1826G>C (p.Arg609Thr) c.*218G>C (n.*218G>C) c.1799G>C (p.Arg600Thr) n.1279G>C c.*214G>C (n.*214G>C) c.1922G>C (p.Arg641Thr) n.2026G>C c.1805G>C (p.Arg602Thr) c.1742G>C (p.Arg581Thr) c.1841G>C (p.Arg614Thr) n.2263G>C c.1730G>C (p.Arg577Thr) n.2243G>C n.2069G>C c.1532G>C (p.Arg511Thr) n.795G>C n.557G>C c.1748G>C (p.Arg583Thr) c.1766G>C (p.Arg589Thr) | dbSNP COSMIC |
17 | g.42323066C>T | CA399582946 | STAT3 | c.1826G>A (p.Arg609Lys) c.*218G>A (n.*218G>A) c.1799G>A (p.Arg600Lys) n.1279G>A c.*214G>A (n.*214G>A) c.1922G>A (p.Arg641Lys) n.2026G>A c.1805G>A (p.Arg602Lys) c.1742G>A (p.Arg581Lys) c.1841G>A (p.Arg614Lys) n.2263G>A c.1730G>A (p.Arg577Lys) n.2243G>A n.2069G>A c.1532G>A (p.Arg511Lys) n.795G>A n.557G>A c.1748G>A (p.Arg583Lys) c.1766G>A (p.Arg589Lys) | dbSNP |
17 | g.42323067T>A | CA399582949 | STAT3 | c.1825A>T (p.Arg609Ter) c.*217A>T (n.*217A>T) c.1798A>T (p.Arg600Ter) n.1278A>T c.*213A>T (n.*213A>T) c.1921A>T (p.Arg641Ter) n.2025A>T c.1804A>T (p.Arg602Ter) c.1741A>T (p.Arg581Ter) c.1840A>T (p.Arg614Ter) n.2262A>T c.1729A>T (p.Arg577Ter) n.2242A>T n.2068A>T c.1531A>T (p.Arg511Ter) n.794A>T n.556A>T c.1747A>T (p.Arg583Ter) c.1765A>T (p.Arg589Ter) | dbSNP |
17 | g.42323067T>C | CA399582951 | STAT3 | c.1825A>G (p.Arg609Gly) c.*217A>G (n.*217A>G) c.1798A>G (p.Arg600Gly) n.1278A>G c.*213A>G (n.*213A>G) c.1921A>G (p.Arg641Gly) n.2025A>G c.1804A>G (p.Arg602Gly) c.1741A>G (p.Arg581Gly) c.1840A>G (p.Arg614Gly) n.2262A>G c.1729A>G (p.Arg577Gly) n.2242A>G n.2068A>G c.1531A>G (p.Arg511Gly) n.794A>G n.556A>G c.1747A>G (p.Arg583Gly) c.1765A>G (p.Arg589Gly) | dbSNP |
17 | g.42323067T>G | CA290732401 | STAT3 | c.1825A>C (p.Arg609=) c.*217A>C (n.*217A>C) c.1798A>C (p.Arg600=) n.1278A>C c.*213A>C (n.*213A>C) c.1921A>C (p.Arg641=) n.2025A>C c.1804A>C (p.Arg602=) c.1741A>C (p.Arg581=) c.1840A>C (p.Arg614=) n.2262A>C c.1729A>C (p.Arg577=) n.2242A>C n.2068A>C c.1531A>C (p.Arg511=) n.794A>C n.556A>C c.1747A>C (p.Arg583=) c.1765A>C (p.Arg589=) | dbSNP |
17 | g.42323067T= | CA2260430989 | STAT3 | c.1825A= (p.Arg609=) c.*217A= (n.*217A=) c.1798A= (p.Arg600=) n.1278A= c.*213A= (n.*213A=) c.1921A= (p.Arg641=) n.2025A= c.1804A= (p.Arg602=) c.1741A= (p.Arg581=) c.1840A= (p.Arg614=) n.2262A= c.1729A= (p.Arg577=) n.2242A= n.2068A= c.1531A= (p.Arg511=) n.794A= n.556A= c.1747A= (p.Arg583=) c.1765A= (p.Arg589=) | |
17 | g.42323068T>A | CA500061193 | STAT3 | c.1824A>T (p.Leu608=) c.*216A>T (n.*216A>T) c.1797A>T (p.Leu599=) n.1277A>T c.*212A>T (n.*212A>T) c.1920A>T (p.Leu640=) n.2024A>T c.1803A>T (p.Leu601=) c.1740A>T (p.Leu580=) c.1839A>T (p.Leu613=) n.2261A>T c.1728A>T (p.Leu576=) n.2241A>T n.2067A>T c.1530A>T (p.Leu510=) n.793A>T n.555A>T c.1746A>T (p.Leu582=) c.1764A>T (p.Leu588=) | |
17 | g.42323068T>C | CA290732404 | STAT3 | c.1824A>G (p.Leu608=) c.*216A>G (n.*216A>G) c.1797A>G (p.Leu599=) n.1277A>G c.*212A>G (n.*212A>G) c.1920A>G (p.Leu640=) n.2024A>G c.1803A>G (p.Leu601=) c.1740A>G (p.Leu580=) c.1839A>G (p.Leu613=) n.2261A>G c.1728A>G (p.Leu576=) n.2241A>G n.2067A>G c.1530A>G (p.Leu510=) n.793A>G n.555A>G c.1746A>G (p.Leu582=) c.1764A>G (p.Leu588=) | dbSNP |
17 | g.42323068T>G | CA500061194 | STAT3 | c.1824A>C (p.Leu608=) c.*216A>C (n.*216A>C) c.1797A>C (p.Leu599=) n.1277A>C c.*212A>C (n.*212A>C) c.1920A>C (p.Leu640=) n.2024A>C c.1803A>C (p.Leu601=) c.1740A>C (p.Leu580=) c.1839A>C (p.Leu613=) n.2261A>C c.1728A>C (p.Leu576=) n.2241A>C n.2067A>C c.1530A>C (p.Leu510=) n.793A>C n.555A>C c.1746A>C (p.Leu582=) c.1764A>C (p.Leu588=) | |
17 | g.42323068T= | CA2260430990 | STAT3 | c.1824A= (p.Leu608=) c.*216A= (n.*216A=) c.1797A= (p.Leu599=) n.1277A= c.*212A= (n.*212A=) c.1920A= (p.Leu640=) n.2024A= c.1803A= (p.Leu601=) c.1740A= (p.Leu580=) c.1839A= (p.Leu613=) n.2261A= c.1728A= (p.Leu576=) n.2241A= n.2067A= c.1530A= (p.Leu510=) n.793A= n.555A= c.1746A= (p.Leu582=) c.1764A= (p.Leu588=) | |
17 | g.42323069A>C | CA399582954 | STAT3 | c.1823T>G (p.Leu608Arg) c.*215T>G (n.*215T>G) c.1796T>G (p.Leu599Arg) n.1276T>G c.*211T>G (n.*211T>G) c.1919T>G (p.Leu640Arg) n.2023T>G c.1802T>G (p.Leu601Arg) c.1739T>G (p.Leu580Arg) c.1838T>G (p.Leu613Arg) n.2260T>G c.1727T>G (p.Leu576Arg) n.2240T>G n.2066T>G c.1529T>G (p.Leu510Arg) n.792T>G n.554T>G c.1745T>G (p.Leu582Arg) c.1763T>G (p.Leu588Arg) | |
17 | g.42323069A>G | CA399582956 | STAT3 | c.1823T>C (p.Leu608Pro) c.*215T>C (n.*215T>C) c.1796T>C (p.Leu599Pro) n.1276T>C c.*211T>C (n.*211T>C) c.1919T>C (p.Leu640Pro) n.2023T>C c.1802T>C (p.Leu601Pro) c.1739T>C (p.Leu580Pro) c.1838T>C (p.Leu613Pro) n.2260T>C c.1727T>C (p.Leu576Pro) n.2240T>C n.2066T>C c.1529T>C (p.Leu510Pro) n.792T>C n.554T>C c.1745T>C (p.Leu582Pro) c.1763T>C (p.Leu588Pro) | dbSNP |
17 | g.42323069A>T | CA399582958 | STAT3 | c.1823T>A (p.Leu608Gln) c.*215T>A (n.*215T>A) c.1796T>A (p.Leu599Gln) n.1276T>A c.*211T>A (n.*211T>A) c.1919T>A (p.Leu640Gln) n.2023T>A c.1802T>A (p.Leu601Gln) c.1739T>A (p.Leu580Gln) c.1838T>A (p.Leu613Gln) n.2260T>A c.1727T>A (p.Leu576Gln) n.2240T>A n.2066T>A c.1529T>A (p.Leu510Gln) n.792T>A n.554T>A c.1745T>A (p.Leu582Gln) c.1763T>A (p.Leu588Gln) | dbSNP |
17 | g.42323070G>A | CA500061195 | STAT3 | c.1822C>T (p.Leu608=) c.*214C>T (n.*214C>T) c.1795C>T (p.Leu599=) n.1275C>T c.*210C>T (n.*210C>T) c.1918C>T (p.Leu640=) n.2022C>T c.1801C>T (p.Leu601=) c.1738C>T (p.Leu580=) c.1837C>T (p.Leu613=) n.2259C>T c.1726C>T (p.Leu576=) n.2239C>T n.2065C>T c.1528C>T (p.Leu510=) n.791C>T n.553C>T c.1744C>T (p.Leu582=) c.1762C>T (p.Leu588=) | dbSNP |
17 | g.42323070G>C | CA399582960 | STAT3 | c.1822C>G (p.Leu608Val) c.*214C>G (n.*214C>G) c.1795C>G (p.Leu599Val) n.1275C>G c.*210C>G (n.*210C>G) c.1918C>G (p.Leu640Val) n.2022C>G c.1801C>G (p.Leu601Val) c.1738C>G (p.Leu580Val) c.1837C>G (p.Leu613Val) n.2259C>G c.1726C>G (p.Leu576Val) n.2239C>G n.2065C>G c.1528C>G (p.Leu510Val) n.791C>G n.553C>G c.1744C>G (p.Leu582Val) c.1762C>G (p.Leu588Val) | dbSNP |
17 | g.42323070G>T | CA399582962 | STAT3 | c.1822C>A (p.Leu608Ile) c.*214C>A (n.*214C>A) c.1795C>A (p.Leu599Ile) n.1275C>A c.*210C>A (n.*210C>A) c.1918C>A (p.Leu640Ile) n.2022C>A c.1801C>A (p.Leu601Ile) c.1738C>A (p.Leu580Ile) c.1837C>A (p.Leu613Ile) n.2259C>A c.1726C>A (p.Leu576Ile) n.2239C>A n.2065C>A c.1528C>A (p.Leu510Ile) n.791C>A n.553C>A c.1744C>A (p.Leu582Ile) c.1762C>A (p.Leu588Ile) | dbSNP |
17 | g.42323071C>A | CA500061197 | STAT3 | c.1821G>T (p.Leu607=) c.*213G>T (n.*213G>T) c.1794G>T (p.Leu598=) n.1274G>T c.*209G>T (n.*209G>T) c.1917G>T (p.Leu639=) n.2021G>T c.1800G>T (p.Leu600=) c.1737G>T (p.Leu579=) c.1836G>T (p.Leu612=) n.2258G>T c.1725G>T (p.Leu575=) n.2238G>T n.2064G>T c.1527G>T (p.Leu509=) n.790G>T n.552G>T c.1743G>T (p.Leu581=) c.1761G>T (p.Leu587=) | dbSNP |
17 | g.42323071C>G | CA500061196 | STAT3 | c.1821G>C (p.Leu607=) c.*213G>C (n.*213G>C) c.1794G>C (p.Leu598=) n.1274G>C c.*209G>C (n.*209G>C) c.1917G>C (p.Leu639=) n.2021G>C c.1800G>C (p.Leu600=) c.1737G>C (p.Leu579=) c.1836G>C (p.Leu612=) n.2258G>C c.1725G>C (p.Leu575=) n.2238G>C n.2064G>C c.1527G>C (p.Leu509=) n.790G>C n.552G>C c.1743G>C (p.Leu581=) c.1761G>C (p.Leu587=) | dbSNP |
17 | g.42323071C>T | CA500061198 | STAT3 | c.1821G>A (p.Leu607=) c.*213G>A (n.*213G>A) c.1794G>A (p.Leu598=) n.1274G>A c.*209G>A (n.*209G>A) c.1917G>A (p.Leu639=) n.2021G>A c.1800G>A (p.Leu600=) c.1737G>A (p.Leu579=) c.1836G>A (p.Leu612=) n.2258G>A c.1725G>A (p.Leu575=) n.2238G>A n.2064G>A c.1527G>A (p.Leu509=) n.790G>A n.552G>A c.1743G>A (p.Leu581=) c.1761G>A (p.Leu587=) | dbSNP |
17 | g.42323072A>C | CA399582964 | STAT3 | c.1820T>G (p.Leu607Arg) c.*212T>G (n.*212T>G) c.1793T>G (p.Leu598Arg) n.1273T>G c.*208T>G (n.*208T>G) c.1916T>G (p.Leu639Arg) n.2020T>G c.1799T>G (p.Leu600Arg) c.1736T>G (p.Leu579Arg) c.1835T>G (p.Leu612Arg) n.2257T>G c.1724T>G (p.Leu575Arg) n.2237T>G n.2063T>G c.1526T>G (p.Leu509Arg) n.789T>G n.551T>G c.1742T>G (p.Leu581Arg) c.1760T>G (p.Leu587Arg) | |
17 | g.42323072A>G | CA399582966 | STAT3 | c.1820T>C (p.Leu607Pro) c.*212T>C (n.*212T>C) c.1793T>C (p.Leu598Pro) n.1273T>C c.*208T>C (n.*208T>C) c.1916T>C (p.Leu639Pro) n.2020T>C c.1799T>C (p.Leu600Pro) c.1736T>C (p.Leu579Pro) c.1835T>C (p.Leu612Pro) n.2257T>C c.1724T>C (p.Leu575Pro) n.2237T>C n.2063T>C c.1526T>C (p.Leu509Pro) n.789T>C n.551T>C c.1742T>C (p.Leu581Pro) c.1760T>C (p.Leu587Pro) | |
17 | g.42323072A>T | CA399582968 | STAT3 | c.1820T>A (p.Leu607Gln) c.*212T>A (n.*212T>A) c.1793T>A (p.Leu598Gln) n.1273T>A c.*208T>A (n.*208T>A) c.1916T>A (p.Leu639Gln) n.2020T>A c.1799T>A (p.Leu600Gln) c.1736T>A (p.Leu579Gln) c.1835T>A (p.Leu612Gln) n.2257T>A c.1724T>A (p.Leu575Gln) n.2237T>A n.2063T>A c.1526T>A (p.Leu509Gln) n.789T>A n.551T>A c.1742T>A (p.Leu581Gln) c.1760T>A (p.Leu587Gln) | dbSNP |
17 | g.42323073G>A | CA500061199 | STAT3 | c.1819C>T (p.Leu607=) c.*211C>T (n.*211C>T) c.1792C>T (p.Leu598=) n.1272C>T c.*207C>T (n.*207C>T) c.1915C>T (p.Leu639=) n.2019C>T c.1798C>T (p.Leu600=) c.1735C>T (p.Leu579=) c.1834C>T (p.Leu612=) n.2256C>T c.1723C>T (p.Leu575=) n.2236C>T n.2062C>T c.1525C>T (p.Leu509=) n.788C>T n.550C>T c.1741C>T (p.Leu581=) c.1759C>T (p.Leu587=) | dbSNP |
17 | g.42323073G>C | CA399582970 | STAT3 | c.1819C>G (p.Leu607Val) c.*211C>G (n.*211C>G) c.1792C>G (p.Leu598Val) n.1272C>G c.*207C>G (n.*207C>G) c.1915C>G (p.Leu639Val) n.2019C>G c.1798C>G (p.Leu600Val) c.1735C>G (p.Leu579Val) c.1834C>G (p.Leu612Val) n.2256C>G c.1723C>G (p.Leu575Val) n.2236C>G n.2062C>G c.1525C>G (p.Leu509Val) n.788C>G n.550C>G c.1741C>G (p.Leu581Val) c.1759C>G (p.Leu587Val) | dbSNP |
17 | g.42323073G>T | CA399582972 | STAT3 | c.1819C>A (p.Leu607Met) c.*211C>A (n.*211C>A) c.1792C>A (p.Leu598Met) n.1272C>A c.*207C>A (n.*207C>A) c.1915C>A (p.Leu639Met) n.2019C>A c.1798C>A (p.Leu600Met) c.1735C>A (p.Leu579Met) c.1834C>A (p.Leu612Met) n.2256C>A c.1723C>A (p.Leu575Met) n.2236C>A n.2062C>A c.1525C>A (p.Leu509Met) n.788C>A n.550C>A c.1741C>A (p.Leu581Met) c.1759C>A (p.Leu587Met) | |
17 | g.42323074G>A | CA500061200 | STAT3 | c.1818C>T (p.Phe606=) c.*210C>T (n.*210C>T) c.1791C>T (p.Phe597=) n.1271C>T c.*206C>T (n.*206C>T) c.1914C>T (p.Phe638=) n.2018C>T c.1797C>T (p.Phe599=) c.1734C>T (p.Phe578=) c.1833C>T (p.Phe611=) n.2255C>T c.1722C>T (p.Phe574=) n.2235C>T n.2061C>T c.1524C>T (p.Phe508=) n.787C>T n.549C>T c.1740C>T (p.Phe580=) c.1758C>T (p.Phe586=) | gnomAD v4 |
17 | g.42323074G>C | CA399582976 | STAT3 | c.1818C>G (p.Phe606Leu) c.*210C>G (n.*210C>G) c.1791C>G (p.Phe597Leu) n.1271C>G c.*206C>G (n.*206C>G) c.1914C>G (p.Phe638Leu) n.2018C>G c.1797C>G (p.Phe599Leu) c.1734C>G (p.Phe578Leu) c.1833C>G (p.Phe611Leu) n.2255C>G c.1722C>G (p.Phe574Leu) n.2235C>G n.2061C>G c.1524C>G (p.Phe508Leu) n.787C>G n.549C>G c.1740C>G (p.Phe580Leu) c.1758C>G (p.Phe586Leu) | |
17 | g.42323074G>T | CA399582974 | STAT3 | c.1818C>A (p.Phe606Leu) c.*210C>A (n.*210C>A) c.1791C>A (p.Phe597Leu) n.1271C>A c.*206C>A (n.*206C>A) c.1914C>A (p.Phe638Leu) n.2018C>A c.1797C>A (p.Phe599Leu) c.1734C>A (p.Phe578Leu) c.1833C>A (p.Phe611Leu) n.2255C>A c.1722C>A (p.Phe574Leu) n.2235C>A n.2061C>A c.1524C>A (p.Phe508Leu) n.787C>A n.549C>A c.1740C>A (p.Phe580Leu) c.1758C>A (p.Phe586Leu) | |
17 | g.42323075A>C | CA399582978 | STAT3 | c.1817T>G (p.Phe606Cys) c.*209T>G (n.*209T>G) c.1790T>G (p.Phe597Cys) n.1270T>G c.*205T>G (n.*205T>G) c.1913T>G (p.Phe638Cys) n.2017T>G c.1796T>G (p.Phe599Cys) c.1733T>G (p.Phe578Cys) c.1832T>G (p.Phe611Cys) n.2254T>G c.1721T>G (p.Phe574Cys) n.2234T>G n.2060T>G c.1523T>G (p.Phe508Cys) n.786T>G n.548T>G c.1739T>G (p.Phe580Cys) c.1757T>G (p.Phe586Cys) | |
17 | g.42323075A>G | CA399582980 | STAT3 | c.1817T>C (p.Phe606Ser) c.*209T>C (n.*209T>C) c.1790T>C (p.Phe597Ser) n.1270T>C c.*205T>C (n.*205T>C) c.1913T>C (p.Phe638Ser) n.2017T>C c.1796T>C (p.Phe599Ser) c.1733T>C (p.Phe578Ser) c.1832T>C (p.Phe611Ser) n.2254T>C c.1721T>C (p.Phe574Ser) n.2234T>C n.2060T>C c.1523T>C (p.Phe508Ser) n.786T>C n.548T>C c.1739T>C (p.Phe580Ser) c.1757T>C (p.Phe586Ser) | dbSNP |
17 | g.42323075A>T | CA399582982 | STAT3 | c.1817T>A (p.Phe606Tyr) c.*209T>A (n.*209T>A) c.1790T>A (p.Phe597Tyr) n.1270T>A c.*205T>A (n.*205T>A) c.1913T>A (p.Phe638Tyr) n.2017T>A c.1796T>A (p.Phe599Tyr) c.1733T>A (p.Phe578Tyr) c.1832T>A (p.Phe611Tyr) n.2254T>A c.1721T>A (p.Phe574Tyr) n.2234T>A n.2060T>A c.1523T>A (p.Phe508Tyr) n.786T>A n.548T>A c.1739T>A (p.Phe580Tyr) c.1757T>A (p.Phe586Tyr) | dbSNP |
17 | g.42323076A>C | CA399582984 | STAT3 | c.1816T>G (p.Phe606Val) c.*208T>G (n.*208T>G) c.1789T>G (p.Phe597Val) n.1269T>G c.*204T>G (n.*204T>G) c.1912T>G (p.Phe638Val) n.2016T>G c.1795T>G (p.Phe599Val) c.1732T>G (p.Phe578Val) c.1831T>G (p.Phe611Val) n.2253T>G c.1720T>G (p.Phe574Val) n.2233T>G n.2059T>G c.1522T>G (p.Phe508Val) n.785T>G n.547T>G c.1738T>G (p.Phe580Val) c.1756T>G (p.Phe586Val) | |
17 | g.42323076A>G | CA399582986 | STAT3 | c.1816T>C (p.Phe606Leu) c.*208T>C (n.*208T>C) c.1789T>C (p.Phe597Leu) n.1269T>C c.*204T>C (n.*204T>C) c.1912T>C (p.Phe638Leu) n.2016T>C c.1795T>C (p.Phe599Leu) c.1732T>C (p.Phe578Leu) c.1831T>C (p.Phe611Leu) n.2253T>C c.1720T>C (p.Phe574Leu) n.2233T>C n.2059T>C c.1522T>C (p.Phe508Leu) n.785T>C n.547T>C c.1738T>C (p.Phe580Leu) c.1756T>C (p.Phe586Leu) | dbSNP |
17 | g.42323076A>T | CA399582988 | STAT3 | c.1816T>A (p.Phe606Ile) c.*208T>A (n.*208T>A) c.1789T>A (p.Phe597Ile) n.1269T>A c.*204T>A (n.*204T>A) c.1912T>A (p.Phe638Ile) n.2016T>A c.1795T>A (p.Phe599Ile) c.1732T>A (p.Phe578Ile) c.1831T>A (p.Phe611Ile) n.2253T>A c.1720T>A (p.Phe574Ile) n.2233T>A n.2059T>A c.1522T>A (p.Phe508Ile) n.785T>A n.547T>A c.1738T>A (p.Phe580Ile) c.1756T>A (p.Phe586Ile) | dbSNP |
17 | g.42323077G>A | CA500061201 | STAT3 | c.1815C>T (p.Thr605=) c.*207C>T (n.*207C>T) c.1788C>T (p.Thr596=) n.1268C>T c.*203C>T (n.*203C>T) c.1911C>T (p.Thr637=) n.2015C>T c.1794C>T (p.Thr598=) c.1731C>T (p.Thr577=) c.1830C>T (p.Thr610=) n.2252C>T c.1719C>T (p.Thr573=) n.2232C>T n.2058C>T c.1521C>T (p.Thr507=) n.784C>T n.546C>T c.1737C>T (p.Thr579=) c.1755C>T (p.Thr585=) | dbSNP |
17 | g.42323077G>C | CA500061202 | STAT3 | c.1815C>G (p.Thr605=) c.*207C>G (n.*207C>G) c.1788C>G (p.Thr596=) n.1268C>G c.*203C>G (n.*203C>G) c.1911C>G (p.Thr637=) n.2015C>G c.1794C>G (p.Thr598=) c.1731C>G (p.Thr577=) c.1830C>G (p.Thr610=) n.2252C>G c.1719C>G (p.Thr573=) n.2232C>G n.2058C>G c.1521C>G (p.Thr507=) n.784C>G n.546C>G c.1737C>G (p.Thr579=) c.1755C>G (p.Thr585=) | dbSNP |
17 | g.42323077G>T | CA500061203 | STAT3 | c.1815C>A (p.Thr605=) c.*207C>A (n.*207C>A) c.1788C>A (p.Thr596=) n.1268C>A c.*203C>A (n.*203C>A) c.1911C>A (p.Thr637=) n.2015C>A c.1794C>A (p.Thr598=) c.1731C>A (p.Thr577=) c.1830C>A (p.Thr610=) n.2252C>A c.1719C>A (p.Thr573=) n.2232C>A n.2058C>A c.1521C>A (p.Thr507=) n.784C>A n.546C>A c.1737C>A (p.Thr579=) c.1755C>A (p.Thr585=) | dbSNP |
17 | g.42323078G>A | CA399582994 | STAT3 | c.1814C>T (p.Thr605Ile) c.*206C>T (n.*206C>T) c.1787C>T (p.Thr596Ile) n.1267C>T c.*202C>T (n.*202C>T) c.1910C>T (p.Thr637Ile) n.2014C>T c.1793C>T (p.Thr598Ile) c.1730C>T (p.Thr577Ile) c.1829C>T (p.Thr610Ile) n.2251C>T c.1718C>T (p.Thr573Ile) n.2231C>T n.2057C>T c.1520C>T (p.Thr507Ile) n.783C>T n.545C>T c.1736C>T (p.Thr579Ile) c.1754C>T (p.Thr585Ile) | dbSNP |
17 | g.42323078G>C | CA399582992 | STAT3 | c.1814C>G (p.Thr605Ser) c.*206C>G (n.*206C>G) c.1787C>G (p.Thr596Ser) n.1267C>G c.*202C>G (n.*202C>G) c.1910C>G (p.Thr637Ser) n.2014C>G c.1793C>G (p.Thr598Ser) c.1730C>G (p.Thr577Ser) c.1829C>G (p.Thr610Ser) n.2251C>G c.1718C>G (p.Thr573Ser) n.2231C>G n.2057C>G c.1520C>G (p.Thr507Ser) n.783C>G n.545C>G c.1736C>G (p.Thr579Ser) c.1754C>G (p.Thr585Ser) | dbSNP |
17 | g.42323078G>T | CA399582991 | STAT3 | c.1814C>A (p.Thr605Asn) c.*206C>A (n.*206C>A) c.1787C>A (p.Thr596Asn) n.1267C>A c.*202C>A (n.*202C>A) c.1910C>A (p.Thr637Asn) n.2014C>A c.1793C>A (p.Thr598Asn) c.1730C>A (p.Thr577Asn) c.1829C>A (p.Thr610Asn) n.2251C>A c.1718C>A (p.Thr573Asn) n.2231C>A n.2057C>A c.1520C>A (p.Thr507Asn) n.783C>A n.545C>A c.1736C>A (p.Thr579Asn) c.1754C>A (p.Thr585Asn) | dbSNP |
17 | g.42323079T>A | CA399582996 | STAT3 | c.1813A>T (p.Thr605Ser) c.*205A>T (n.*205A>T) c.1786A>T (p.Thr596Ser) n.1266A>T c.*201A>T (n.*201A>T) c.1909A>T (p.Thr637Ser) n.2013A>T c.1792A>T (p.Thr598Ser) c.1729A>T (p.Thr577Ser) c.1828A>T (p.Thr610Ser) n.2250A>T c.1717A>T (p.Thr573Ser) n.2230A>T n.2056A>T c.1519A>T (p.Thr507Ser) n.782A>T n.544A>T c.1735A>T (p.Thr579Ser) c.1753A>T (p.Thr585Ser) | dbSNP |
17 | g.42323079T>C | CA399582998 | STAT3 | c.1813A>G (p.Thr605Ala) c.*205A>G (n.*205A>G) c.1786A>G (p.Thr596Ala) n.1266A>G c.*201A>G (n.*201A>G) c.1909A>G (p.Thr637Ala) n.2013A>G c.1792A>G (p.Thr598Ala) c.1729A>G (p.Thr577Ala) c.1828A>G (p.Thr610Ala) n.2250A>G c.1717A>G (p.Thr573Ala) n.2230A>G n.2056A>G c.1519A>G (p.Thr507Ala) n.782A>G n.544A>G c.1735A>G (p.Thr579Ala) c.1753A>G (p.Thr585Ala) | |
17 | g.42323079T>G | CA399582999 | STAT3 | c.1813A>C (p.Thr605Pro) c.*205A>C (n.*205A>C) c.1786A>C (p.Thr596Pro) n.1266A>C c.*201A>C (n.*201A>C) c.1909A>C (p.Thr637Pro) n.2013A>C c.1792A>C (p.Thr598Pro) c.1729A>C (p.Thr577Pro) c.1828A>C (p.Thr610Pro) n.2250A>C c.1717A>C (p.Thr573Pro) n.2230A>C n.2056A>C c.1519A>C (p.Thr507Pro) n.782A>C n.544A>C c.1735A>C (p.Thr579Pro) c.1753A>C (p.Thr585Pro) | dbSNP |
17 | g.42323080G>A | CA500061205 | STAT3 | c.1812C>T (p.Gly604=) c.*204C>T (n.*204C>T) c.1785C>T (p.Gly595=) n.1265C>T c.*200C>T (n.*200C>T) c.1908C>T (p.Gly636=) n.2012C>T c.1791C>T (p.Gly597=) c.1728C>T (p.Gly576=) c.1827C>T (p.Gly609=) n.2249C>T c.1716C>T (p.Gly572=) n.2229C>T n.2055C>T c.1518C>T (p.Gly506=) n.781C>T n.543C>T c.1734C>T (p.Gly578=) c.1752C>T (p.Gly584=) | ClinVar dbSNP gnomAD v4 |
17 | g.42323080G>C | CA500061206 | STAT3 | c.1812C>G (p.Gly604=) c.*204C>G (n.*204C>G) c.1785C>G (p.Gly595=) n.1265C>G c.*200C>G (n.*200C>G) c.1908C>G (p.Gly636=) n.2012C>G c.1791C>G (p.Gly597=) c.1728C>G (p.Gly576=) c.1827C>G (p.Gly609=) n.2249C>G c.1716C>G (p.Gly572=) n.2229C>G n.2055C>G c.1518C>G (p.Gly506=) n.781C>G n.543C>G c.1734C>G (p.Gly578=) c.1752C>G (p.Gly584=) | dbSNP |
17 | g.42323080G>T | CA500061204 | STAT3 | c.1812C>A (p.Gly604=) c.*204C>A (n.*204C>A) c.1785C>A (p.Gly595=) n.1265C>A c.*200C>A (n.*200C>A) c.1908C>A (p.Gly636=) n.2012C>A c.1791C>A (p.Gly597=) c.1728C>A (p.Gly576=) c.1827C>A (p.Gly609=) n.2249C>A c.1716C>A (p.Gly572=) n.2229C>A n.2055C>A c.1518C>A (p.Gly506=) n.781C>A n.543C>A c.1734C>A (p.Gly578=) c.1752C>A (p.Gly584=) | dbSNP gnomAD v4 |
17 | g.42323081C>A | CA399583001 | STAT3 | c.1811G>T (p.Gly604Val) c.*203G>T (n.*203G>T) c.1784G>T (p.Gly595Val) n.1264G>T c.*199G>T (n.*199G>T) c.1907G>T (p.Gly636Val) n.2011G>T c.1790G>T (p.Gly597Val) c.1727G>T (p.Gly576Val) c.1826G>T (p.Gly609Val) n.2248G>T c.1715G>T (p.Gly572Val) n.2228G>T n.2054G>T c.1517G>T (p.Gly506Val) n.780G>T n.542G>T c.1733G>T (p.Gly578Val) c.1751G>T (p.Gly584Val) | |
17 | g.42323081C>G | CA399583003 | STAT3 | c.1811G>C (p.Gly604Ala) c.*203G>C (n.*203G>C) c.1784G>C (p.Gly595Ala) n.1264G>C c.*199G>C (n.*199G>C) c.1907G>C (p.Gly636Ala) n.2011G>C c.1790G>C (p.Gly597Ala) c.1727G>C (p.Gly576Ala) c.1826G>C (p.Gly609Ala) n.2248G>C c.1715G>C (p.Gly572Ala) n.2228G>C n.2054G>C c.1517G>C (p.Gly506Ala) n.780G>C n.542G>C c.1733G>C (p.Gly578Ala) c.1751G>C (p.Gly584Ala) | dbSNP |
17 | g.42323081C>T | CA399583005 | STAT3 | c.1811G>A (p.Gly604Asp) c.*203G>A (n.*203G>A) c.1784G>A (p.Gly595Asp) n.1264G>A c.*199G>A (n.*199G>A) c.1907G>A (p.Gly636Asp) n.2011G>A c.1790G>A (p.Gly597Asp) c.1727G>A (p.Gly576Asp) c.1826G>A (p.Gly609Asp) n.2248G>A c.1715G>A (p.Gly572Asp) n.2228G>A n.2054G>A c.1517G>A (p.Gly506Asp) n.780G>A n.542G>A c.1733G>A (p.Gly578Asp) c.1751G>A (p.Gly584Asp) | dbSNP |
17 | g.42323082C>A | CA399583007 | STAT3 | c.1810G>T (p.Gly604Cys) c.*202G>T (n.*202G>T) c.1783G>T (p.Gly595Cys) n.1263G>T c.*198G>T (n.*198G>T) c.1906G>T (p.Gly636Cys) n.2010G>T c.1789G>T (p.Gly597Cys) c.1726G>T (p.Gly576Cys) c.1825G>T (p.Gly609Cys) n.2247G>T c.1714G>T (p.Gly572Cys) n.2227G>T n.2053G>T c.1516G>T (p.Gly506Cys) n.779G>T n.541G>T c.1732G>T (p.Gly578Cys) c.1750G>T (p.Gly584Cys) | dbSNP |
17 | g.42323082C>G | CA399583011 | STAT3 | c.1810G>C (p.Gly604Arg) c.*202G>C (n.*202G>C) c.1783G>C (p.Gly595Arg) n.1263G>C c.*198G>C (n.*198G>C) c.1906G>C (p.Gly636Arg) n.2010G>C c.1789G>C (p.Gly597Arg) c.1726G>C (p.Gly576Arg) c.1825G>C (p.Gly609Arg) n.2247G>C c.1714G>C (p.Gly572Arg) n.2227G>C n.2053G>C c.1516G>C (p.Gly506Arg) n.779G>C n.541G>C c.1732G>C (p.Gly578Arg) c.1750G>C (p.Gly584Arg) | dbSNP |
17 | g.42323082C>T | CA399583009 | STAT3 | c.1810G>A (p.Gly604Ser) c.*202G>A (n.*202G>A) c.1783G>A (p.Gly595Ser) n.1263G>A c.*198G>A (n.*198G>A) c.1906G>A (p.Gly636Ser) n.2010G>A c.1789G>A (p.Gly597Ser) c.1726G>A (p.Gly576Ser) c.1825G>A (p.Gly609Ser) n.2247G>A c.1714G>A (p.Gly572Ser) n.2227G>A n.2053G>A c.1516G>A (p.Gly506Ser) n.779G>A n.541G>A c.1732G>A (p.Gly578Ser) c.1750G>A (p.Gly584Ser) | dbSNP |
17 | g.42323083T>A | CA500061207 | STAT3 | c.1809A>T (p.Pro603=) c.*201A>T (n.*201A>T) c.1782A>T (p.Pro594=) n.1262A>T c.*197A>T (n.*197A>T) c.1905A>T (p.Pro635=) n.2009A>T c.1788A>T (p.Pro596=) c.1725A>T (p.Pro575=) c.1824A>T (p.Pro608=) n.2246A>T c.1713A>T (p.Pro571=) n.2226A>T n.2052A>T c.1515A>T (p.Pro505=) n.778A>T n.540A>T c.1731A>T (p.Pro577=) c.1749A>T (p.Pro583=) | |
17 | g.42323083T>C | CA8575209 | STAT3 | c.1809A>G (p.Pro603=) c.*201A>G (n.*201A>G) c.1782A>G (p.Pro594=) n.1262A>G c.*197A>G (n.*197A>G) c.1905A>G (p.Pro635=) n.2009A>G c.1788A>G (p.Pro596=) c.1725A>G (p.Pro575=) c.1824A>G (p.Pro608=) n.2246A>G c.1713A>G (p.Pro571=) n.2226A>G n.2052A>G c.1515A>G (p.Pro505=) n.778A>G n.540A>G c.1731A>G (p.Pro577=) c.1749A>G (p.Pro583=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42323083T>G | CA500061208 | STAT3 | c.1809A>C (p.Pro603=) c.*201A>C (n.*201A>C) c.1782A>C (p.Pro594=) n.1262A>C c.*197A>C (n.*197A>C) c.1905A>C (p.Pro635=) n.2009A>C c.1788A>C (p.Pro596=) c.1725A>C (p.Pro575=) c.1824A>C (p.Pro608=) n.2246A>C c.1713A>C (p.Pro571=) n.2226A>C n.2052A>C c.1515A>C (p.Pro505=) n.778A>C n.540A>C c.1731A>C (p.Pro577=) c.1749A>C (p.Pro583=) | |
17 | g.42323083T= | CA2260430991 | STAT3 | c.1809A= (p.Pro603=) c.*201A= (n.*201A=) c.1782A= (p.Pro594=) n.1262A= c.*197A= (n.*197A=) c.1905A= (p.Pro635=) n.2009A= c.1788A= (p.Pro596=) c.1725A= (p.Pro575=) c.1824A= (p.Pro608=) n.2246A= c.1713A= (p.Pro571=) n.2226A= n.2052A= c.1515A= (p.Pro505=) n.778A= n.540A= c.1731A= (p.Pro577=) c.1749A= (p.Pro583=) | |
17 | g.42323084G>A | CA399583014 | STAT3 | c.1808C>T (p.Pro603Leu) c.*200C>T (n.*200C>T) c.1781C>T (p.Pro594Leu) n.1261C>T c.*196C>T (n.*196C>T) c.1904C>T (p.Pro635Leu) n.2008C>T c.1787C>T (p.Pro596Leu) c.1724C>T (p.Pro575Leu) c.1823C>T (p.Pro608Leu) n.2245C>T c.1712C>T (p.Pro571Leu) n.2225C>T n.2051C>T c.1514C>T (p.Pro505Leu) n.777C>T n.539C>T c.1730C>T (p.Pro577Leu) c.1748C>T (p.Pro583Leu) | dbSNP |
17 | g.42323084G>C | CA399583016 | STAT3 | c.1808C>G (p.Pro603Arg) c.*200C>G (n.*200C>G) c.1781C>G (p.Pro594Arg) n.1261C>G c.*196C>G (n.*196C>G) c.1904C>G (p.Pro635Arg) n.2008C>G c.1787C>G (p.Pro596Arg) c.1724C>G (p.Pro575Arg) c.1823C>G (p.Pro608Arg) n.2245C>G c.1712C>G (p.Pro571Arg) n.2225C>G n.2051C>G c.1514C>G (p.Pro505Arg) n.777C>G n.539C>G c.1730C>G (p.Pro577Arg) c.1748C>G (p.Pro583Arg) | dbSNP |
17 | g.42323084G= | CA2260430992 | STAT3 | c.1808C= (p.Pro603=) c.*200C= (n.*200C=) c.1781C= (p.Pro594=) n.1261C= c.*196C= (n.*196C=) c.1904C= (p.Pro635=) n.2008C= c.1787C= (p.Pro596=) c.1724C= (p.Pro575=) c.1823C= (p.Pro608=) n.2245C= c.1712C= (p.Pro571=) n.2225C= n.2051C= c.1514C= (p.Pro505=) n.777C= n.539C= c.1730C= (p.Pro577=) c.1748C= (p.Pro583=) | |
17 | g.42323084G>T | CA290732409 | STAT3 | c.1808C>A (p.Pro603Gln) c.*200C>A (n.*200C>A) c.1781C>A (p.Pro594Gln) n.1261C>A c.*196C>A (n.*196C>A) c.1904C>A (p.Pro635Gln) n.2008C>A c.1787C>A (p.Pro596Gln) c.1724C>A (p.Pro575Gln) c.1823C>A (p.Pro608Gln) n.2245C>A c.1712C>A (p.Pro571Gln) n.2225C>A n.2051C>A c.1514C>A (p.Pro505Gln) n.777C>A n.539C>A c.1730C>A (p.Pro577Gln) c.1748C>A (p.Pro583Gln) | dbSNP |
17 | g.42323085G>A | CA399583018 | STAT3 | c.1807C>T (p.Pro603Ser) c.*199C>T (n.*199C>T) c.1780C>T (p.Pro594Ser) n.1260C>T c.*195C>T (n.*195C>T) c.1903C>T (p.Pro635Ser) n.2007C>T c.1786C>T (p.Pro596Ser) c.1723C>T (p.Pro575Ser) c.1822C>T (p.Pro608Ser) n.2244C>T c.1711C>T (p.Pro571Ser) n.2224C>T n.2050C>T c.1513C>T (p.Pro505Ser) n.776C>T n.538C>T c.1729C>T (p.Pro577Ser) c.1747C>T (p.Pro583Ser) | dbSNP |
17 | g.42323085G>C | CA399583020 | STAT3 | c.1807C>G (p.Pro603Ala) c.*199C>G (n.*199C>G) c.1780C>G (p.Pro594Ala) n.1260C>G c.*195C>G (n.*195C>G) c.1903C>G (p.Pro635Ala) n.2007C>G c.1786C>G (p.Pro596Ala) c.1723C>G (p.Pro575Ala) c.1822C>G (p.Pro608Ala) n.2244C>G c.1711C>G (p.Pro571Ala) n.2224C>G n.2050C>G c.1513C>G (p.Pro505Ala) n.776C>G n.538C>G c.1729C>G (p.Pro577Ala) c.1747C>G (p.Pro583Ala) | dbSNP |
17 | g.42323085G>T | CA399583022 | STAT3 | c.1807C>A (p.Pro603Thr) c.*199C>A (n.*199C>A) c.1780C>A (p.Pro594Thr) n.1260C>A c.*195C>A (n.*195C>A) c.1903C>A (p.Pro635Thr) n.2007C>A c.1786C>A (p.Pro596Thr) c.1723C>A (p.Pro575Thr) c.1822C>A (p.Pro608Thr) n.2244C>A c.1711C>A (p.Pro571Thr) n.2224C>A n.2050C>A c.1513C>A (p.Pro505Thr) n.776C>A n.538C>A c.1729C>A (p.Pro577Thr) c.1747C>A (p.Pro583Thr) | dbSNP |
17 | g.42323086A= | CA2260430993 | STAT3 | c.1806T= (p.Pro602=) c.*198T= (n.*198T=) c.1779T= (p.Pro593=) n.1259T= c.*194T= (n.*194T=) c.1902T= (p.Pro634=) n.2006T= c.1785T= (p.Pro595=) c.1722T= (p.Pro574=) c.1821T= (p.Pro607=) n.2243T= c.1710T= (p.Pro570=) n.2223T= n.2049T= c.1512T= (p.Pro504=) n.775T= n.537T= c.1728T= (p.Pro576=) c.1746T= (p.Pro582=) | |
17 | g.42323086A>C | CA500061209 | STAT3 | c.1806T>G (p.Pro602=) c.*198T>G (n.*198T>G) c.1779T>G (p.Pro593=) n.1259T>G c.*194T>G (n.*194T>G) c.1902T>G (p.Pro634=) n.2006T>G c.1785T>G (p.Pro595=) c.1722T>G (p.Pro574=) c.1821T>G (p.Pro607=) n.2243T>G c.1710T>G (p.Pro570=) n.2223T>G n.2049T>G c.1512T>G (p.Pro504=) n.775T>G n.537T>G c.1728T>G (p.Pro576=) c.1746T>G (p.Pro582=) | |
17 | g.42323086A>G | CA8575210 | STAT3 | c.1806T>C (p.Pro602=) c.*198T>C (n.*198T>C) c.1779T>C (p.Pro593=) n.1259T>C c.*194T>C (n.*194T>C) c.1902T>C (p.Pro634=) n.2006T>C c.1785T>C (p.Pro595=) c.1722T>C (p.Pro574=) c.1821T>C (p.Pro607=) n.2243T>C c.1710T>C (p.Pro570=) n.2223T>C n.2049T>C c.1512T>C (p.Pro504=) n.775T>C n.537T>C c.1728T>C (p.Pro576=) c.1746T>C (p.Pro582=) | dbSNP ExAC gnomAD v2 |
17 | g.42323086A>T | CA500061210 | STAT3 | c.1806T>A (p.Pro602=) c.*198T>A (n.*198T>A) c.1779T>A (p.Pro593=) n.1259T>A c.*194T>A (n.*194T>A) c.1902T>A (p.Pro634=) n.2006T>A c.1785T>A (p.Pro595=) c.1722T>A (p.Pro574=) c.1821T>A (p.Pro607=) n.2243T>A c.1710T>A (p.Pro570=) n.2223T>A n.2049T>A c.1512T>A (p.Pro504=) n.775T>A n.537T>A c.1728T>A (p.Pro576=) c.1746T>A (p.Pro582=) | dbSNP |
17 | g.42323087G>A | CA399583025 | STAT3 | c.1805C>T (p.Pro602Leu) c.*197C>T (n.*197C>T) c.1778C>T (p.Pro593Leu) n.1258C>T c.*193C>T (n.*193C>T) c.1901C>T (p.Pro634Leu) n.2005C>T c.1784C>T (p.Pro595Leu) c.1721C>T (p.Pro574Leu) c.1820C>T (p.Pro607Leu) n.2242C>T c.1709C>T (p.Pro570Leu) n.2222C>T n.2048C>T c.1511C>T (p.Pro504Leu) n.774C>T n.536C>T c.1727C>T (p.Pro576Leu) c.1745C>T (p.Pro582Leu) | dbSNP |
17 | g.42323087G>C | CA399583028 | STAT3 | c.1805C>G (p.Pro602Arg) c.*197C>G (n.*197C>G) c.1778C>G (p.Pro593Arg) n.1258C>G c.*193C>G (n.*193C>G) c.1901C>G (p.Pro634Arg) n.2005C>G c.1784C>G (p.Pro595Arg) c.1721C>G (p.Pro574Arg) c.1820C>G (p.Pro607Arg) n.2242C>G c.1709C>G (p.Pro570Arg) n.2222C>G n.2048C>G c.1511C>G (p.Pro504Arg) n.774C>G n.536C>G c.1727C>G (p.Pro576Arg) c.1745C>G (p.Pro582Arg) | dbSNP |
17 | g.42323087G>T | CA399583029 | STAT3 | c.1805C>A (p.Pro602His) c.*197C>A (n.*197C>A) c.1778C>A (p.Pro593His) n.1258C>A c.*193C>A (n.*193C>A) c.1901C>A (p.Pro634His) n.2005C>A c.1784C>A (p.Pro595His) c.1721C>A (p.Pro574His) c.1820C>A (p.Pro607His) n.2242C>A c.1709C>A (p.Pro570His) n.2222C>A n.2048C>A c.1511C>A (p.Pro504His) n.774C>A n.536C>A c.1727C>A (p.Pro576His) c.1745C>A (p.Pro582His) | dbSNP |
17 | g.42323088G>A | CA399583031 | STAT3 | c.1804C>T (p.Pro602Ser) c.*196C>T (n.*196C>T) c.1777C>T (p.Pro593Ser) n.1257C>T c.*192C>T (n.*192C>T) c.1900C>T (p.Pro634Ser) n.2004C>T c.1783C>T (p.Pro595Ser) c.1720C>T (p.Pro574Ser) c.1819C>T (p.Pro607Ser) n.2241C>T c.1708C>T (p.Pro570Ser) n.2221C>T n.2047C>T c.1510C>T (p.Pro504Ser) n.773C>T n.535C>T c.1726C>T (p.Pro576Ser) c.1744C>T (p.Pro582Ser) | dbSNP |
17 | g.42323088G>C | CA399583035 | STAT3 | c.1804C>G (p.Pro602Ala) c.*196C>G (n.*196C>G) c.1777C>G (p.Pro593Ala) n.1257C>G c.*192C>G (n.*192C>G) c.1900C>G (p.Pro634Ala) n.2004C>G c.1783C>G (p.Pro595Ala) c.1720C>G (p.Pro574Ala) c.1819C>G (p.Pro607Ala) n.2241C>G c.1708C>G (p.Pro570Ala) n.2221C>G n.2047C>G c.1510C>G (p.Pro504Ala) n.773C>G n.535C>G c.1726C>G (p.Pro576Ala) c.1744C>G (p.Pro582Ala) | dbSNP gnomAD v4 |
17 | g.42323088G>T | CA399583033 | STAT3 | c.1804C>A (p.Pro602Thr) c.*196C>A (n.*196C>A) c.1777C>A (p.Pro593Thr) n.1257C>A c.*192C>A (n.*192C>A) c.1900C>A (p.Pro634Thr) n.2004C>A c.1783C>A (p.Pro595Thr) c.1720C>A (p.Pro574Thr) c.1819C>A (p.Pro607Thr) n.2241C>A c.1708C>A (p.Pro570Thr) n.2221C>A n.2047C>A c.1510C>A (p.Pro504Thr) n.773C>A n.535C>A c.1726C>A (p.Pro576Thr) c.1744C>A (p.Pro582Thr) | |
17 | g.42323089C>A | CA399583037 | STAT3 | c.1803G>T (p.Lys601Asn) c.*195G>T (n.*195G>T) c.1776G>T (p.Lys592Asn) n.1256G>T c.*191G>T (n.*191G>T) c.1899G>T (p.Lys633Asn) n.2003G>T c.1782G>T (p.Lys594Asn) c.1719G>T (p.Lys573Asn) c.1818G>T (p.Lys606Asn) n.2240G>T c.1707G>T (p.Lys569Asn) n.2220G>T n.2046G>T c.1509G>T (p.Lys503Asn) n.772G>T n.534G>T c.1725G>T (p.Lys575Asn) c.1743G>T (p.Lys581Asn) | |
17 | g.42323089C>G | CA399583039 | STAT3 | c.1803G>C (p.Lys601Asn) c.*195G>C (n.*195G>C) c.1776G>C (p.Lys592Asn) n.1256G>C c.*191G>C (n.*191G>C) c.1899G>C (p.Lys633Asn) n.2003G>C c.1782G>C (p.Lys594Asn) c.1719G>C (p.Lys573Asn) c.1818G>C (p.Lys606Asn) n.2240G>C c.1707G>C (p.Lys569Asn) n.2220G>C n.2046G>C c.1509G>C (p.Lys503Asn) n.772G>C n.534G>C c.1725G>C (p.Lys575Asn) c.1743G>C (p.Lys581Asn) | |
17 | g.42323089C>T | CA500061211 | STAT3 | c.1803G>A (p.Lys601=) c.*195G>A (n.*195G>A) c.1776G>A (p.Lys592=) n.1256G>A c.*191G>A (n.*191G>A) c.1899G>A (p.Lys633=) n.2003G>A c.1782G>A (p.Lys594=) c.1719G>A (p.Lys573=) c.1818G>A (p.Lys606=) n.2240G>A c.1707G>A (p.Lys569=) n.2220G>A n.2046G>A c.1509G>A (p.Lys503=) n.772G>A n.534G>A c.1725G>A (p.Lys575=) c.1743G>A (p.Lys581=) | |
17 | g.42323090T>A | CA399583041 | STAT3 | c.1802A>T (p.Lys601Met) c.*194A>T (n.*194A>T) c.1775A>T (p.Lys592Met) n.1255A>T c.*190A>T (n.*190A>T) c.1898A>T (p.Lys633Met) n.2002A>T c.1781A>T (p.Lys594Met) c.1718A>T (p.Lys573Met) c.1817A>T (p.Lys606Met) n.2239A>T c.1706A>T (p.Lys569Met) n.2219A>T n.2045A>T c.1508A>T (p.Lys503Met) n.771A>T n.533A>T c.1724A>T (p.Lys575Met) c.1742A>T (p.Lys581Met) | dbSNP |
17 | g.42323090T>C | CA8575211 | STAT3 | c.1802A>G (p.Lys601Arg) c.*194A>G (n.*194A>G) c.1775A>G (p.Lys592Arg) n.1255A>G c.*190A>G (n.*190A>G) c.1898A>G (p.Lys633Arg) n.2002A>G c.1781A>G (p.Lys594Arg) c.1718A>G (p.Lys573Arg) c.1817A>G (p.Lys606Arg) n.2239A>G c.1706A>G (p.Lys569Arg) n.2219A>G n.2045A>G c.1508A>G (p.Lys503Arg) n.771A>G n.533A>G c.1724A>G (p.Lys575Arg) c.1742A>G (p.Lys581Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42323090T>G | CA399583044 | STAT3 | c.1802A>C (p.Lys601Thr) c.*194A>C (n.*194A>C) c.1775A>C (p.Lys592Thr) n.1255A>C c.*190A>C (n.*190A>C) c.1898A>C (p.Lys633Thr) n.2002A>C c.1781A>C (p.Lys594Thr) c.1718A>C (p.Lys573Thr) c.1817A>C (p.Lys606Thr) n.2239A>C c.1706A>C (p.Lys569Thr) n.2219A>C n.2045A>C c.1508A>C (p.Lys503Thr) n.771A>C n.533A>C c.1724A>C (p.Lys575Thr) c.1742A>C (p.Lys581Thr) | ClinVar dbSNP |
17 | g.42323090T= | CA2260430994 | STAT3 | c.1802A= (p.Lys601=) c.*194A= (n.*194A=) c.1775A= (p.Lys592=) n.1255A= c.*190A= (n.*190A=) c.1898A= (p.Lys633=) n.2002A= c.1781A= (p.Lys594=) c.1718A= (p.Lys573=) c.1817A= (p.Lys606=) n.2239A= c.1706A= (p.Lys569=) n.2219A= n.2045A= c.1508A= (p.Lys503=) n.771A= n.533A= c.1724A= (p.Lys575=) c.1742A= (p.Lys581=) | |
17 | g.42323091T>A | CA399583046 | STAT3 | c.1801A>T (p.Lys601Ter) c.*193A>T (n.*193A>T) c.1774A>T (p.Lys592Ter) n.1254A>T c.*189A>T (n.*189A>T) c.1897A>T (p.Lys633Ter) n.2001A>T c.1780A>T (p.Lys594Ter) c.1717A>T (p.Lys573Ter) c.1816A>T (p.Lys606Ter) n.2238A>T c.1705A>T (p.Lys569Ter) n.2218A>T n.2044A>T c.1507A>T (p.Lys503Ter) n.770A>T n.532A>T c.1723A>T (p.Lys575Ter) c.1741A>T (p.Lys581Ter) | dbSNP |
17 | g.42323091T>C | CA399583047 | STAT3 | c.1801A>G (p.Lys601Glu) c.*193A>G (n.*193A>G) c.1774A>G (p.Lys592Glu) n.1254A>G c.*189A>G (n.*189A>G) c.1897A>G (p.Lys633Glu) n.2001A>G c.1780A>G (p.Lys594Glu) c.1717A>G (p.Lys573Glu) c.1816A>G (p.Lys606Glu) n.2238A>G c.1705A>G (p.Lys569Glu) n.2218A>G n.2044A>G c.1507A>G (p.Lys503Glu) n.770A>G n.532A>G c.1723A>G (p.Lys575Glu) c.1741A>G (p.Lys581Glu) | dbSNP |
17 | g.42323091T>G | CA399583049 | STAT3 | c.1801A>C (p.Lys601Gln) c.*193A>C (n.*193A>C) c.1774A>C (p.Lys592Gln) n.1254A>C c.*189A>C (n.*189A>C) c.1897A>C (p.Lys633Gln) n.2001A>C c.1780A>C (p.Lys594Gln) c.1717A>C (p.Lys573Gln) c.1816A>C (p.Lys606Gln) n.2238A>C c.1705A>C (p.Lys569Gln) n.2218A>C n.2044A>C c.1507A>C (p.Lys503Gln) n.770A>C n.532A>C c.1723A>C (p.Lys575Gln) c.1741A>C (p.Lys581Gln) | |
17 | g.42323092A>C | CA500061214 | STAT3 | c.1800T>G (p.Thr600=) c.*192T>G (n.*192T>G) c.1773T>G (p.Thr591=) n.1253T>G c.*188T>G (n.*188T>G) c.1896T>G (p.Thr632=) n.2000T>G c.1779T>G (p.Thr593=) c.1716T>G (p.Thr572=) c.1815T>G (p.Thr605=) n.2237T>G c.1704T>G (p.Thr568=) n.2217T>G n.2043T>G c.1506T>G (p.Thr502=) n.769T>G n.531T>G c.1722T>G (p.Thr574=) c.1740T>G (p.Thr580=) | |
17 | g.42323092A>G | CA500061213 | STAT3 | c.1800T>C (p.Thr600=) c.*192T>C (n.*192T>C) c.1773T>C (p.Thr591=) n.1253T>C c.*188T>C (n.*188T>C) c.1896T>C (p.Thr632=) n.2000T>C c.1779T>C (p.Thr593=) c.1716T>C (p.Thr572=) c.1815T>C (p.Thr605=) n.2237T>C c.1704T>C (p.Thr568=) n.2217T>C n.2043T>C c.1506T>C (p.Thr502=) n.769T>C n.531T>C c.1722T>C (p.Thr574=) c.1740T>C (p.Thr580=) | dbSNP |
17 | g.42323092A>T | CA500061212 | STAT3 | c.1800T>A (p.Thr600=) c.*192T>A (n.*192T>A) c.1773T>A (p.Thr591=) n.1253T>A c.*188T>A (n.*188T>A) c.1896T>A (p.Thr632=) n.2000T>A c.1779T>A (p.Thr593=) c.1716T>A (p.Thr572=) c.1815T>A (p.Thr605=) n.2237T>A c.1704T>A (p.Thr568=) n.2217T>A n.2043T>A c.1506T>A (p.Thr502=) n.769T>A n.531T>A c.1722T>A (p.Thr574=) c.1740T>A (p.Thr580=) | dbSNP gnomAD v4 |
17 | g.42323093G>A | CA399583052 | STAT3 | c.1799C>T (p.Thr600Ile) c.*191C>T (n.*191C>T) c.1772C>T (p.Thr591Ile) n.1252C>T c.*187C>T (n.*187C>T) c.1895C>T (p.Thr632Ile) n.1999C>T c.1778C>T (p.Thr593Ile) c.1715C>T (p.Thr572Ile) c.1814C>T (p.Thr605Ile) n.2236C>T c.1703C>T (p.Thr568Ile) n.2216C>T n.2042C>T c.1505C>T (p.Thr502Ile) n.768C>T n.530C>T c.1721C>T (p.Thr574Ile) c.1739C>T (p.Thr580Ile) | dbSNP |
17 | g.42323093G>C | CA399583053 | STAT3 | c.1799C>G (p.Thr600Ser) c.*191C>G (n.*191C>G) c.1772C>G (p.Thr591Ser) n.1252C>G c.*187C>G (n.*187C>G) c.1895C>G (p.Thr632Ser) n.1999C>G c.1778C>G (p.Thr593Ser) c.1715C>G (p.Thr572Ser) c.1814C>G (p.Thr605Ser) n.2236C>G c.1703C>G (p.Thr568Ser) n.2216C>G n.2042C>G c.1505C>G (p.Thr502Ser) n.768C>G n.530C>G c.1721C>G (p.Thr574Ser) c.1739C>G (p.Thr580Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42323093G= | CA2260430995 | STAT3 | c.1799C= (p.Thr600=) c.*191C= (n.*191C=) c.1772C= (p.Thr591=) n.1252C= c.*187C= (n.*187C=) c.1895C= (p.Thr632=) n.1999C= c.1778C= (p.Thr593=) c.1715C= (p.Thr572=) c.1814C= (p.Thr605=) n.2236C= c.1703C= (p.Thr568=) n.2216C= n.2042C= c.1505C= (p.Thr502=) n.768C= n.530C= c.1721C= (p.Thr574=) c.1739C= (p.Thr580=) | |
17 | g.42323093G>T | CA399583055 | STAT3 | c.1799C>A (p.Thr600Asn) c.*191C>A (n.*191C>A) c.1772C>A (p.Thr591Asn) n.1252C>A c.*187C>A (n.*187C>A) c.1895C>A (p.Thr632Asn) n.1999C>A c.1778C>A (p.Thr593Asn) c.1715C>A (p.Thr572Asn) c.1814C>A (p.Thr605Asn) n.2236C>A c.1703C>A (p.Thr568Asn) n.2216C>A n.2042C>A c.1505C>A (p.Thr502Asn) n.768C>A n.530C>A c.1721C>A (p.Thr574Asn) c.1739C>A (p.Thr580Asn) | dbSNP |
17 | g.42323093_42323095del | CA2580093749 | STAT3 | c.1797_1799del (p.Thr600del) c.*189_*191del (n.*189_*191del) c.1770_1772del (p.Thr591del) n.1250_1252del c.*185_*187del (n.*185_*187del) c.1893_1895del (p.Thr632del) n.1997_1999del c.1776_1778del (p.Thr593del) c.1713_1715del (p.Thr572del) c.1812_1814del (p.Thr605del) n.2234_2236del c.1701_1703del (p.Thr568del) n.2214_2216del n.2040_2042del c.1503_1505del (p.Thr502del) n.766_768del n.528_530del c.1719_1721del (p.Thr574del) c.1737_1739del (p.Thr580del) | ClinVar |
17 | g.42323094T>A | CA399583057 | STAT3 | c.1798A>T (p.Thr600Ser) c.*190A>T (n.*190A>T) c.1771A>T (p.Thr591Ser) n.1251A>T c.*186A>T (n.*186A>T) c.1894A>T (p.Thr632Ser) n.1998A>T c.1777A>T (p.Thr593Ser) c.1714A>T (p.Thr572Ser) c.1813A>T (p.Thr605Ser) n.2235A>T c.1702A>T (p.Thr568Ser) n.2215A>T n.2041A>T c.1504A>T (p.Thr502Ser) n.767A>T n.529A>T c.1720A>T (p.Thr574Ser) c.1738A>T (p.Thr580Ser) | dbSNP |
17 | g.42323094T>C | CA8575212 | STAT3 | c.1798A>G (p.Thr600Ala) c.*190A>G (n.*190A>G) c.1771A>G (p.Thr591Ala) n.1251A>G c.*186A>G (n.*186A>G) c.1894A>G (p.Thr632Ala) n.1998A>G c.1777A>G (p.Thr593Ala) c.1714A>G (p.Thr572Ala) c.1813A>G (p.Thr605Ala) n.2235A>G c.1702A>G (p.Thr568Ala) n.2215A>G n.2041A>G c.1504A>G (p.Thr502Ala) n.767A>G n.529A>G c.1720A>G (p.Thr574Ala) c.1738A>G (p.Thr580Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42323094T>G | CA399583059 | STAT3 | c.1798A>C (p.Thr600Pro) c.*190A>C (n.*190A>C) c.1771A>C (p.Thr591Pro) n.1251A>C c.*186A>C (n.*186A>C) c.1894A>C (p.Thr632Pro) n.1998A>C c.1777A>C (p.Thr593Pro) c.1714A>C (p.Thr572Pro) c.1813A>C (p.Thr605Pro) n.2235A>C c.1702A>C (p.Thr568Pro) n.2215A>C n.2041A>C c.1504A>C (p.Thr502Pro) n.767A>C n.529A>C c.1720A>C (p.Thr574Pro) c.1738A>C (p.Thr580Pro) | dbSNP |
17 | g.42323094T= | CA2260430996 | STAT3 | c.1798A= (p.Thr600=) c.*190A= (n.*190A=) c.1771A= (p.Thr591=) n.1251A= c.*186A= (n.*186A=) c.1894A= (p.Thr632=) n.1998A= c.1777A= (p.Thr593=) c.1714A= (p.Thr572=) c.1813A= (p.Thr605=) n.2235A= c.1702A= (p.Thr568=) n.2215A= n.2041A= c.1504A= (p.Thr502=) n.767A= n.529A= c.1720A= (p.Thr574=) c.1738A= (p.Thr580=) | |
17 | g.42323095G>A | CA500061215 | STAT3 | c.1797C>T (p.Ser599=) c.*189C>T (n.*189C>T) c.1770C>T (p.Ser590=) n.1250C>T c.*185C>T (n.*185C>T) c.1893C>T (p.Ser631=) n.1997C>T c.1776C>T (p.Ser592=) c.1713C>T (p.Ser571=) c.1812C>T (p.Ser604=) n.2234C>T c.1701C>T (p.Ser567=) n.2214C>T n.2040C>T c.1503C>T (p.Ser501=) n.766C>T n.528C>T c.1719C>T (p.Ser573=) c.1737C>T (p.Ser579=) | dbSNP |
17 | g.42323095G>C | CA399583064 | STAT3 | c.1797C>G (p.Ser599Arg) c.*189C>G (n.*189C>G) c.1770C>G (p.Ser590Arg) n.1250C>G c.*185C>G (n.*185C>G) c.1893C>G (p.Ser631Arg) n.1997C>G c.1776C>G (p.Ser592Arg) c.1713C>G (p.Ser571Arg) c.1812C>G (p.Ser604Arg) n.2234C>G c.1701C>G (p.Ser567Arg) n.2214C>G n.2040C>G c.1503C>G (p.Ser501Arg) n.766C>G n.528C>G c.1719C>G (p.Ser573Arg) c.1737C>G (p.Ser579Arg) | dbSNP |
17 | g.42323095G>T | CA399583062 | STAT3 | c.1797C>A (p.Ser599Arg) c.*189C>A (n.*189C>A) c.1770C>A (p.Ser590Arg) n.1250C>A c.*185C>A (n.*185C>A) c.1893C>A (p.Ser631Arg) n.1997C>A c.1776C>A (p.Ser592Arg) c.1713C>A (p.Ser571Arg) c.1812C>A (p.Ser604Arg) n.2234C>A c.1701C>A (p.Ser567Arg) n.2214C>A n.2040C>A c.1503C>A (p.Ser501Arg) n.766C>A n.528C>A c.1719C>A (p.Ser573Arg) c.1737C>A (p.Ser579Arg) | dbSNP |
17 | g.42323096C>A | CA399583066 | STAT3 | c.1796G>T (p.Ser599Ile) c.*188G>T (n.*188G>T) c.1769G>T (p.Ser590Ile) n.1249G>T c.*184G>T (n.*184G>T) c.1892G>T (p.Ser631Ile) n.1996G>T c.1775G>T (p.Ser592Ile) c.1712G>T (p.Ser571Ile) c.1811G>T (p.Ser604Ile) n.2233G>T c.1700G>T (p.Ser567Ile) n.2213G>T n.2039G>T c.1502G>T (p.Ser501Ile) n.765G>T n.527G>T c.1718G>T (p.Ser573Ile) c.1736G>T (p.Ser579Ile) | dbSNP |
17 | g.42323096C>G | CA399583068 | STAT3 | c.1796G>C (p.Ser599Thr) c.*188G>C (n.*188G>C) c.1769G>C (p.Ser590Thr) n.1249G>C c.*184G>C (n.*184G>C) c.1892G>C (p.Ser631Thr) n.1996G>C c.1775G>C (p.Ser592Thr) c.1712G>C (p.Ser571Thr) c.1811G>C (p.Ser604Thr) n.2233G>C c.1700G>C (p.Ser567Thr) n.2213G>C n.2039G>C c.1502G>C (p.Ser501Thr) n.765G>C n.527G>C c.1718G>C (p.Ser573Thr) c.1736G>C (p.Ser579Thr) | dbSNP |
17 | g.42323096C>T | CA399583070 | STAT3 | c.1796G>A (p.Ser599Asn) c.*188G>A (n.*188G>A) c.1769G>A (p.Ser590Asn) n.1249G>A c.*184G>A (n.*184G>A) c.1892G>A (p.Ser631Asn) n.1996G>A c.1775G>A (p.Ser592Asn) c.1712G>A (p.Ser571Asn) c.1811G>A (p.Ser604Asn) n.2233G>A c.1700G>A (p.Ser567Asn) n.2213G>A n.2039G>A c.1502G>A (p.Ser501Asn) n.765G>A n.527G>A c.1718G>A (p.Ser573Asn) c.1736G>A (p.Ser579Asn) | dbSNP |
17 | g.42323097T>A | CA399583072 | STAT3 | c.1795A>T (p.Ser599Cys) c.*187A>T (n.*187A>T) c.1768A>T (p.Ser590Cys) n.1248A>T c.*183A>T (n.*183A>T) c.1891A>T (p.Ser631Cys) n.1995A>T c.1774A>T (p.Ser592Cys) c.1711A>T (p.Ser571Cys) c.1810A>T (p.Ser604Cys) n.2232A>T c.1699A>T (p.Ser567Cys) n.2212A>T n.2038A>T c.1501A>T (p.Ser501Cys) n.764A>T n.526A>T c.1717A>T (p.Ser573Cys) c.1735A>T (p.Ser579Cys) | dbSNP |
17 | g.42323097T>C | CA399583073 | STAT3 | c.1795A>G (p.Ser599Gly) c.*187A>G (n.*187A>G) c.1768A>G (p.Ser590Gly) n.1248A>G c.*183A>G (n.*183A>G) c.1891A>G (p.Ser631Gly) n.1995A>G c.1774A>G (p.Ser592Gly) c.1711A>G (p.Ser571Gly) c.1810A>G (p.Ser604Gly) n.2232A>G c.1699A>G (p.Ser567Gly) n.2212A>G n.2038A>G c.1501A>G (p.Ser501Gly) n.764A>G n.526A>G c.1717A>G (p.Ser573Gly) c.1735A>G (p.Ser579Gly) | dbSNP |
17 | g.42323097T>G | CA399583077 | STAT3 | c.1795A>C (p.Ser599Arg) c.*187A>C (n.*187A>C) c.1768A>C (p.Ser590Arg) n.1248A>C c.*183A>C (n.*183A>C) c.1891A>C (p.Ser631Arg) n.1995A>C c.1774A>C (p.Ser592Arg) c.1711A>C (p.Ser571Arg) c.1810A>C (p.Ser604Arg) n.2232A>C c.1699A>C (p.Ser567Arg) n.2212A>C n.2038A>C c.1501A>C (p.Ser501Arg) n.764A>C n.526A>C c.1717A>C (p.Ser573Arg) c.1735A>C (p.Ser579Arg) | |
17 | g.42323098C>A | CA399583080 | STAT3 | c.1794G>T (p.Leu598Phe) c.*186G>T (n.*186G>T) c.1767G>T (p.Leu589Phe) n.1247G>T c.*182G>T (n.*182G>T) c.1890G>T (p.Leu630Phe) n.1994G>T c.1773G>T (p.Leu591Phe) c.1710G>T (p.Leu570Phe) c.1809G>T (p.Leu603Phe) n.2231G>T c.1698G>T (p.Leu566Phe) n.2211G>T n.2037G>T c.1500G>T (p.Leu500Phe) n.763G>T n.525G>T c.1716G>T (p.Leu572Phe) c.1734G>T (p.Leu578Phe) | dbSNP |
17 | g.42323098C= | CA2260430997 | STAT3 | c.1794G= (p.Leu598=) c.*186G= (n.*186G=) c.1767G= (p.Leu589=) n.1247G= c.*182G= (n.*182G=) c.1890G= (p.Leu630=) n.1994G= c.1773G= (p.Leu591=) c.1710G= (p.Leu570=) c.1809G= (p.Leu603=) n.2231G= c.1698G= (p.Leu566=) n.2211G= n.2037G= c.1500G= (p.Leu500=) n.763G= n.525G= c.1716G= (p.Leu572=) c.1734G= (p.Leu578=) | |
17 | g.42323098C>G | CA399583082 | STAT3 | c.1794G>C (p.Leu598Phe) c.*186G>C (n.*186G>C) c.1767G>C (p.Leu589Phe) n.1247G>C c.*182G>C (n.*182G>C) c.1890G>C (p.Leu630Phe) n.1994G>C c.1773G>C (p.Leu591Phe) c.1710G>C (p.Leu570Phe) c.1809G>C (p.Leu603Phe) n.2231G>C c.1698G>C (p.Leu566Phe) n.2211G>C n.2037G>C c.1500G>C (p.Leu500Phe) n.763G>C n.525G>C c.1716G>C (p.Leu572Phe) c.1734G>C (p.Leu578Phe) | dbSNP |
17 | g.42323098C>T | CA8575213 | STAT3 | c.1794G>A (p.Leu598=) c.*186G>A (n.*186G>A) c.1767G>A (p.Leu589=) n.1247G>A c.*182G>A (n.*182G>A) c.1890G>A (p.Leu630=) n.1994G>A c.1773G>A (p.Leu591=) c.1710G>A (p.Leu570=) c.1809G>A (p.Leu603=) n.2231G>A c.1698G>A (p.Leu566=) n.2211G>A n.2037G>A c.1500G>A (p.Leu500=) n.763G>A n.525G>A c.1716G>A (p.Leu572=) c.1734G>A (p.Leu578=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42323099A>C | CA399583086 | STAT3 | c.1793T>G (p.Leu598Trp) c.*185T>G (n.*185T>G) c.1766T>G (p.Leu589Trp) n.1246T>G c.*181T>G (n.*181T>G) c.1889T>G (p.Leu630Trp) n.1993T>G c.1772T>G (p.Leu591Trp) c.1709T>G (p.Leu570Trp) c.1808T>G (p.Leu603Trp) n.2230T>G c.1697T>G (p.Leu566Trp) n.2210T>G n.2036T>G c.1499T>G (p.Leu500Trp) n.762T>G n.524T>G c.1715T>G (p.Leu572Trp) c.1733T>G (p.Leu578Trp) | |
17 | g.42323099A>G | CA399583088 | STAT3 | c.1793T>C (p.Leu598Ser) c.*185T>C (n.*185T>C) c.1766T>C (p.Leu589Ser) n.1246T>C c.*181T>C (n.*181T>C) c.1889T>C (p.Leu630Ser) n.1993T>C c.1772T>C (p.Leu591Ser) c.1709T>C (p.Leu570Ser) c.1808T>C (p.Leu603Ser) n.2230T>C c.1697T>C (p.Leu566Ser) n.2210T>C n.2036T>C c.1499T>C (p.Leu500Ser) n.762T>C n.524T>C c.1715T>C (p.Leu572Ser) c.1733T>C (p.Leu578Ser) | |
17 | g.42323099A>T | CA399583089 | STAT3 | c.1793T>A (p.Leu598Ter) c.*185T>A (n.*185T>A) c.1766T>A (p.Leu589Ter) n.1246T>A c.*181T>A (n.*181T>A) c.1889T>A (p.Leu630Ter) n.1993T>A c.1772T>A (p.Leu591Ter) c.1709T>A (p.Leu570Ter) c.1808T>A (p.Leu603Ter) n.2230T>A c.1697T>A (p.Leu566Ter) n.2210T>A n.2036T>A c.1499T>A (p.Leu500Ter) n.762T>A n.524T>A c.1715T>A (p.Leu572Ter) c.1733T>A (p.Leu578Ter) | dbSNP |
17 | g.42323100A>C | CA399583094 | STAT3 | c.1792T>G (p.Leu598Val) c.*184T>G (n.*184T>G) c.1765T>G (p.Leu589Val) n.1245T>G c.*180T>G (n.*180T>G) c.1888T>G (p.Leu630Val) n.1992T>G c.1771T>G (p.Leu591Val) c.1708T>G (p.Leu570Val) c.1807T>G (p.Leu603Val) n.2229T>G c.1696T>G (p.Leu566Val) n.2209T>G n.2035T>G c.1498T>G (p.Leu500Val) n.761T>G n.523T>G c.1714T>G (p.Leu572Val) c.1732T>G (p.Leu578Val) | |
17 | g.42323100A>G | CA500061216 | STAT3 | c.1792T>C (p.Leu598=) c.*184T>C (n.*184T>C) c.1765T>C (p.Leu589=) n.1245T>C c.*180T>C (n.*180T>C) c.1888T>C (p.Leu630=) n.1992T>C c.1771T>C (p.Leu591=) c.1708T>C (p.Leu570=) c.1807T>C (p.Leu603=) n.2229T>C c.1696T>C (p.Leu566=) n.2209T>C n.2035T>C c.1498T>C (p.Leu500=) n.761T>C n.523T>C c.1714T>C (p.Leu572=) c.1732T>C (p.Leu578=) | |
17 | g.42323100A>T | CA399583092 | STAT3 | c.1792T>A (p.Leu598Met) c.*184T>A (n.*184T>A) c.1765T>A (p.Leu589Met) n.1245T>A c.*180T>A (n.*180T>A) c.1888T>A (p.Leu630Met) n.1992T>A c.1771T>A (p.Leu591Met) c.1708T>A (p.Leu570Met) c.1807T>A (p.Leu603Met) n.2229T>A c.1696T>A (p.Leu566Met) n.2209T>A n.2035T>A c.1498T>A (p.Leu500Met) n.761T>A n.523T>A c.1714T>A (p.Leu572Met) c.1732T>A (p.Leu578Met) | dbSNP |
17 | g.42323101G>A | CA500061218 | STAT3 | c.1791C>T (p.Ile597=) c.*183C>T (n.*183C>T) c.1764C>T (p.Ile588=) n.1244C>T c.*179C>T (n.*179C>T) c.1887C>T (p.Ile629=) n.1991C>T c.1770C>T (p.Ile590=) c.1707C>T (p.Ile569=) c.1806C>T (p.Ile602=) n.2228C>T c.1695C>T (p.Ile565=) n.2208C>T n.2034C>T c.1497C>T (p.Ile499=) n.760C>T n.522C>T c.1713C>T (p.Ile571=) c.1731C>T (p.Ile577=) | dbSNP |
17 | g.42323101G>C | CA399583095 | STAT3 | c.1791C>G (p.Ile597Met) c.*183C>G (n.*183C>G) c.1764C>G (p.Ile588Met) n.1244C>G c.*179C>G (n.*179C>G) c.1887C>G (p.Ile629Met) n.1991C>G c.1770C>G (p.Ile590Met) c.1707C>G (p.Ile569Met) c.1806C>G (p.Ile602Met) n.2228C>G c.1695C>G (p.Ile565Met) n.2208C>G n.2034C>G c.1497C>G (p.Ile499Met) n.760C>G n.522C>G c.1713C>G (p.Ile571Met) c.1731C>G (p.Ile577Met) | dbSNP |
17 | g.42323101G= | CA2260430998 | STAT3 | c.1791C= (p.Ile597=) c.*183C= (n.*183C=) c.1764C= (p.Ile588=) n.1244C= c.*179C= (n.*179C=) c.1887C= (p.Ile629=) n.1991C= c.1770C= (p.Ile590=) c.1707C= (p.Ile569=) c.1806C= (p.Ile602=) n.2228C= c.1695C= (p.Ile565=) n.2208C= n.2034C= c.1497C= (p.Ile499=) n.760C= n.522C= c.1713C= (p.Ile571=) c.1731C= (p.Ile577=) | |
17 | g.42323101G>T | CA500061217 | STAT3 | c.1791C>A (p.Ile597=) c.*183C>A (n.*183C>A) c.1764C>A (p.Ile588=) n.1244C>A c.*179C>A (n.*179C>A) c.1887C>A (p.Ile629=) n.1991C>A c.1770C>A (p.Ile590=) c.1707C>A (p.Ile569=) c.1806C>A (p.Ile602=) n.2228C>A c.1695C>A (p.Ile565=) n.2208C>A n.2034C>A c.1497C>A (p.Ile499=) n.760C>A n.522C>A c.1713C>A (p.Ile571=) c.1731C>A (p.Ile577=) | |
17 | g.42323101_42323102insT | CA290732425 | STAT3 | c.1790_1791insA (p.Ser599GlufsTer3) c.*182_*183insA (n.*182_*183insA) c.1763_1764insA (p.Ser590GlufsTer3) n.1243_1244insA c.*178_*179insA (n.*178_*179insA) c.1886_1887insA (p.Ser631GlufsTer3) n.1990_1991insA c.1769_1770insA (p.Ser592GlufsTer3) c.1706_1707insA (p.Ser571GlufsTer3) c.1805_1806insA (p.Ser604GlufsTer3) n.2227_2228insA c.1694_1695insA (p.Ser567GlufsTer3) n.2207_2208insA n.2033_2034insA c.1496_1497insA (p.Ser501GlufsTer3) n.759_760insA n.521_522insA c.1712_1713insA (p.Ser573GlufsTer3) c.1730_1731insA (p.Ser579GlufsTer3) | dbSNP |
17 | g.42323102A= | CA2260430999 | STAT3 | c.1790T= (p.Ile597=) c.*182T= (n.*182T=) c.1763T= (p.Ile588=) n.1243T= c.*178T= (n.*178T=) c.1886T= (p.Ile629=) n.1990T= c.1769T= (p.Ile590=) c.1706T= (p.Ile569=) c.1805T= (p.Ile602=) n.2227T= c.1694T= (p.Ile565=) n.2207T= n.2033T= c.1496T= (p.Ile499=) n.759T= n.521T= c.1712T= (p.Ile571=) c.1730T= (p.Ile577=) | |
17 | g.42323102A>C | CA399583099 | STAT3 | c.1790T>G (p.Ile597Ser) c.*182T>G (n.*182T>G) c.1763T>G (p.Ile588Ser) n.1243T>G c.*178T>G (n.*178T>G) c.1886T>G (p.Ile629Ser) n.1990T>G c.1769T>G (p.Ile590Ser) c.1706T>G (p.Ile569Ser) c.1805T>G (p.Ile602Ser) n.2227T>G c.1694T>G (p.Ile565Ser) n.2207T>G n.2033T>G c.1496T>G (p.Ile499Ser) n.759T>G n.521T>G c.1712T>G (p.Ile571Ser) c.1730T>G (p.Ile577Ser) | |
17 | g.42323102A>G | CA399583101 | STAT3 | c.1790T>C (p.Ile597Thr) c.*182T>C (n.*182T>C) c.1763T>C (p.Ile588Thr) n.1243T>C c.*178T>C (n.*178T>C) c.1886T>C (p.Ile629Thr) n.1990T>C c.1769T>C (p.Ile590Thr) c.1706T>C (p.Ile569Thr) c.1805T>C (p.Ile602Thr) n.2227T>C c.1694T>C (p.Ile565Thr) n.2207T>C n.2033T>C c.1496T>C (p.Ile499Thr) n.759T>C n.521T>C c.1712T>C (p.Ile571Thr) c.1730T>C (p.Ile577Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42323102A>T | CA399583103 | STAT3 | c.1790T>A (p.Ile597Asn) c.*182T>A (n.*182T>A) c.1763T>A (p.Ile588Asn) n.1243T>A c.*178T>A (n.*178T>A) c.1886T>A (p.Ile629Asn) n.1990T>A c.1769T>A (p.Ile590Asn) c.1706T>A (p.Ile569Asn) c.1805T>A (p.Ile602Asn) n.2227T>A c.1694T>A (p.Ile565Asn) n.2207T>A n.2033T>A c.1496T>A (p.Ile499Asn) n.759T>A n.521T>A c.1712T>A (p.Ile571Asn) c.1730T>A (p.Ile577Asn) | dbSNP |
17 | g.42323103T>A | CA399583109 | STAT3 | c.1789A>T (p.Ile597Phe) c.*181A>T (n.*181A>T) c.1762A>T (p.Ile588Phe) n.1242A>T c.*177A>T (n.*177A>T) c.1885A>T (p.Ile629Phe) n.1989A>T c.1768A>T (p.Ile590Phe) c.1705A>T (p.Ile569Phe) c.1804A>T (p.Ile602Phe) n.2226A>T c.1693A>T (p.Ile565Phe) n.2206A>T n.2032A>T c.1495A>T (p.Ile499Phe) n.758A>T n.520A>T c.1711A>T (p.Ile571Phe) c.1729A>T (p.Ile577Phe) | dbSNP |
17 | g.42323103T>C | CA399583107 | STAT3 | c.1789A>G (p.Ile597Val) c.*181A>G (n.*181A>G) c.1762A>G (p.Ile588Val) n.1242A>G c.*177A>G (n.*177A>G) c.1885A>G (p.Ile629Val) n.1989A>G c.1768A>G (p.Ile590Val) c.1705A>G (p.Ile569Val) c.1804A>G (p.Ile602Val) n.2226A>G c.1693A>G (p.Ile565Val) n.2206A>G n.2032A>G c.1495A>G (p.Ile499Val) n.758A>G n.520A>G c.1711A>G (p.Ile571Val) c.1729A>G (p.Ile577Val) | gnomAD v4 |
17 | g.42323103T>G | CA399583105 | STAT3 | c.1789A>C (p.Ile597Leu) c.*181A>C (n.*181A>C) c.1762A>C (p.Ile588Leu) n.1242A>C c.*177A>C (n.*177A>C) c.1885A>C (p.Ile629Leu) n.1989A>C c.1768A>C (p.Ile590Leu) c.1705A>C (p.Ile569Leu) c.1804A>C (p.Ile602Leu) n.2226A>C c.1693A>C (p.Ile565Leu) n.2206A>C n.2032A>C c.1495A>C (p.Ile499Leu) n.758A>C n.520A>C c.1711A>C (p.Ile571Leu) c.1729A>C (p.Ile577Leu) | dbSNP |
17 | g.42323104G>A | CA500061221 | STAT3 | c.1788C>T (p.Ala596=) c.*180C>T (n.*180C>T) c.1761C>T (p.Ala587=) n.1241C>T c.*176C>T (n.*176C>T) c.1884C>T (p.Ala628=) n.1988C>T c.1767C>T (p.Ala589=) c.1704C>T (p.Ala568=) c.1803C>T (p.Ala601=) n.2225C>T c.1692C>T (p.Ala564=) n.2205C>T n.2031C>T c.1494C>T (p.Ala498=) n.757C>T n.519C>T c.1710C>T (p.Ala570=) c.1728C>T (p.Ala576=) | |
17 | g.42323104G>C | CA500061220 | STAT3 | c.1788C>G (p.Ala596=) c.*180C>G (n.*180C>G) c.1761C>G (p.Ala587=) n.1241C>G c.*176C>G (n.*176C>G) c.1884C>G (p.Ala628=) n.1988C>G c.1767C>G (p.Ala589=) c.1704C>G (p.Ala568=) c.1803C>G (p.Ala601=) n.2225C>G c.1692C>G (p.Ala564=) n.2205C>G n.2031C>G c.1494C>G (p.Ala498=) n.757C>G n.519C>G c.1710C>G (p.Ala570=) c.1728C>G (p.Ala576=) | dbSNP |
17 | g.42323104G>T | CA500061222 | STAT3 | c.1788C>A (p.Ala596=) c.*180C>A (n.*180C>A) c.1761C>A (p.Ala587=) n.1241C>A c.*176C>A (n.*176C>A) c.1884C>A (p.Ala628=) n.1988C>A c.1767C>A (p.Ala589=) c.1704C>A (p.Ala568=) c.1803C>A (p.Ala601=) n.2225C>A c.1692C>A (p.Ala564=) n.2205C>A n.2031C>A c.1494C>A (p.Ala498=) n.757C>A n.519C>A c.1710C>A (p.Ala570=) c.1728C>A (p.Ala576=) | dbSNP |
17 | g.42323105G>A | CA399583110 | STAT3 | c.1787C>T (p.Ala596Val) c.*179C>T (n.*179C>T) c.1760C>T (p.Ala587Val) n.1240C>T c.*175C>T (n.*175C>T) c.1883C>T (p.Ala628Val) n.1987C>T c.1766C>T (p.Ala589Val) c.1703C>T (p.Ala568Val) c.1802C>T (p.Ala601Val) n.2224C>T c.1691C>T (p.Ala564Val) n.2204C>T n.2030C>T c.1493C>T (p.Ala498Val) n.756C>T n.518C>T c.1709C>T (p.Ala570Val) c.1727C>T (p.Ala576Val) | |
17 | g.42323105G>C | CA399583111 | STAT3 | c.1787C>G (p.Ala596Gly) c.*179C>G (n.*179C>G) c.1760C>G (p.Ala587Gly) n.1240C>G c.*175C>G (n.*175C>G) c.1883C>G (p.Ala628Gly) n.1987C>G c.1766C>G (p.Ala589Gly) c.1703C>G (p.Ala568Gly) c.1802C>G (p.Ala601Gly) n.2224C>G c.1691C>G (p.Ala564Gly) n.2204C>G n.2030C>G c.1493C>G (p.Ala498Gly) n.756C>G n.518C>G c.1709C>G (p.Ala570Gly) c.1727C>G (p.Ala576Gly) | |
17 | g.42323105G>T | CA399583113 | STAT3 | c.1787C>A (p.Ala596Asp) c.*179C>A (n.*179C>A) c.1760C>A (p.Ala587Asp) n.1240C>A c.*175C>A (n.*175C>A) c.1883C>A (p.Ala628Asp) n.1987C>A c.1766C>A (p.Ala589Asp) c.1703C>A (p.Ala568Asp) c.1802C>A (p.Ala601Asp) n.2224C>A c.1691C>A (p.Ala564Asp) n.2204C>A n.2030C>A c.1493C>A (p.Ala498Asp) n.756C>A n.518C>A c.1709C>A (p.Ala570Asp) c.1727C>A (p.Ala576Asp) | |
17 | g.42323106C>A | CA399583116 | STAT3 | c.1786G>T (p.Ala596Ser) c.*178G>T (n.*178G>T) c.1759G>T (p.Ala587Ser) n.1239G>T c.*174G>T (n.*174G>T) c.1882G>T (p.Ala628Ser) n.1986G>T c.1765G>T (p.Ala589Ser) c.1702G>T (p.Ala568Ser) c.1801G>T (p.Ala601Ser) n.2223G>T c.1690G>T (p.Ala564Ser) n.2203G>T n.2029G>T c.1492G>T (p.Ala498Ser) n.755G>T n.517G>T c.1708G>T (p.Ala570Ser) c.1726G>T (p.Ala576Ser) | gnomAD v4 |
17 | g.42323106C= | CA2260431000 | STAT3 | c.1786G= (p.Ala596=) c.*178G= (n.*178G=) c.1759G= (p.Ala587=) n.1239G= c.*174G= (n.*174G=) c.1882G= (p.Ala628=) n.1986G= c.1765G= (p.Ala589=) c.1702G= (p.Ala568=) c.1801G= (p.Ala601=) n.2223G= c.1690G= (p.Ala564=) n.2203G= n.2029G= c.1492G= (p.Ala498=) n.755G= n.517G= c.1708G= (p.Ala570=) c.1726G= (p.Ala576=) | |
17 | g.42323106C>G | CA399583118 | STAT3 | c.1786G>C (p.Ala596Pro) c.*178G>C (n.*178G>C) c.1759G>C (p.Ala587Pro) n.1239G>C c.*174G>C (n.*174G>C) c.1882G>C (p.Ala628Pro) n.1986G>C c.1765G>C (p.Ala589Pro) c.1702G>C (p.Ala568Pro) c.1801G>C (p.Ala601Pro) n.2223G>C c.1690G>C (p.Ala564Pro) n.2203G>C n.2029G>C c.1492G>C (p.Ala498Pro) n.755G>C n.517G>C c.1708G>C (p.Ala570Pro) c.1726G>C (p.Ala576Pro) | dbSNP |
17 | g.42323106C>T | CA8575214 | STAT3 | c.1786G>A (p.Ala596Thr) c.*178G>A (n.*178G>A) c.1759G>A (p.Ala587Thr) n.1239G>A c.*174G>A (n.*174G>A) c.1882G>A (p.Ala628Thr) n.1986G>A c.1765G>A (p.Ala589Thr) c.1702G>A (p.Ala568Thr) c.1801G>A (p.Ala601Thr) n.2223G>A c.1690G>A (p.Ala564Thr) n.2203G>A n.2029G>A c.1492G>A (p.Ala498Thr) n.755G>A n.517G>A c.1708G>A (p.Ala570Thr) c.1726G>A (p.Ala576Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42323114_42323119dup | CA2740095341 | STAT3 | c.1781_1786dup (p.Arg595_Ala596insGluArg) c.*173_*178dup (n.*173_*178dup) c.1754_1759dup (p.Arg586_Ala587insGluArg) n.1234_1239dup c.*169_*174dup (n.*169_*174dup) c.1877_1882dup (p.Arg627_Ala628insGluArg) n.1981_1986dup c.1760_1765dup (p.Arg588_Ala589insGluArg) c.1697_1702dup (p.Arg567_Ala568insGluArg) c.1796_1801dup (p.Arg600_Ala601insGluArg) n.2218_2223dup c.1685_1690dup (p.Arg563_Ala564insGluArg) n.2198_2203dup n.2024_2029dup c.1487_1492dup (p.Arg497_Ala498insGluArg) n.750_755dup n.512_517dup c.1703_1708dup (p.Arg569_Ala570insGluArg) c.1721_1726dup (p.Arg575_Ala576insGluArg) | ClinVar |
17 | g.42323107C>A | CA500061224 | STAT3 | c.1785G>T (p.Arg595=) c.*177G>T (n.*177G>T) c.1758G>T (p.Arg586=) n.1238G>T c.*173G>T (n.*173G>T) c.1881G>T (p.Arg627=) n.1985G>T c.1764G>T (p.Arg588=) c.1701G>T (p.Arg567=) c.1800G>T (p.Arg600=) n.2222G>T c.1689G>T (p.Arg563=) n.2202G>T n.2028G>T c.1491G>T (p.Arg497=) n.754G>T n.516G>T c.1707G>T (p.Arg569=) c.1725G>T (p.Arg575=) | |
17 | g.42323107C= | CA2260431001 | STAT3 | c.1785G= (p.Arg595=) c.*177G= (n.*177G=) c.1758G= (p.Arg586=) n.1238G= c.*173G= (n.*173G=) c.1881G= (p.Arg627=) n.1985G= c.1764G= (p.Arg588=) c.1701G= (p.Arg567=) c.1800G= (p.Arg600=) n.2222G= c.1689G= (p.Arg563=) n.2202G= n.2028G= c.1491G= (p.Arg497=) n.754G= n.516G= c.1707G= (p.Arg569=) c.1725G= (p.Arg575=) | |
17 | g.42323107C>G | CA500061226 | STAT3 | c.1785G>C (p.Arg595=) c.*177G>C (n.*177G>C) c.1758G>C (p.Arg586=) n.1238G>C c.*173G>C (n.*173G>C) c.1881G>C (p.Arg627=) n.1985G>C c.1764G>C (p.Arg588=) c.1701G>C (p.Arg567=) c.1800G>C (p.Arg600=) n.2222G>C c.1689G>C (p.Arg563=) n.2202G>C n.2028G>C c.1491G>C (p.Arg497=) n.754G>C n.516G>C c.1707G>C (p.Arg569=) c.1725G>C (p.Arg575=) | |
17 | g.42323107C>T | CA500061225 | STAT3 | c.1785G>A (p.Arg595=) c.*177G>A (n.*177G>A) c.1758G>A (p.Arg586=) n.1238G>A c.*173G>A (n.*173G>A) c.1881G>A (p.Arg627=) n.1985G>A c.1764G>A (p.Arg588=) c.1701G>A (p.Arg567=) c.1800G>A (p.Arg600=) n.2222G>A c.1689G>A (p.Arg563=) n.2202G>A n.2028G>A c.1491G>A (p.Arg497=) n.754G>A n.516G>A c.1707G>A (p.Arg569=) c.1725G>A (p.Arg575=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42323108C>A | CA399583120 | STAT3 | c.1784G>T (p.Arg595Leu) c.*176G>T (n.*176G>T) c.1757G>T (p.Arg586Leu) n.1237G>T c.*172G>T (n.*172G>T) c.1880G>T (p.Arg627Leu) n.1984G>T c.1763G>T (p.Arg588Leu) c.1700G>T (p.Arg567Leu) c.1799G>T (p.Arg600Leu) n.2221G>T c.1688G>T (p.Arg563Leu) n.2201G>T n.2027G>T c.1490G>T (p.Arg497Leu) n.753G>T n.515G>T c.1706G>T (p.Arg569Leu) c.1724G>T (p.Arg575Leu) | COSMIC |
17 | g.42323108C>G | CA399583123 | STAT3 | c.1784G>C (p.Arg595Pro) c.*176G>C (n.*176G>C) c.1757G>C (p.Arg586Pro) n.1237G>C c.*172G>C (n.*172G>C) c.1880G>C (p.Arg627Pro) n.1984G>C c.1763G>C (p.Arg588Pro) c.1700G>C (p.Arg567Pro) c.1799G>C (p.Arg600Pro) n.2221G>C c.1688G>C (p.Arg563Pro) n.2201G>C n.2027G>C c.1490G>C (p.Arg497Pro) n.753G>C n.515G>C c.1706G>C (p.Arg569Pro) c.1724G>C (p.Arg575Pro) | dbSNP |
17 | g.42323108C>T | CA399583121 | STAT3 | c.1784G>A (p.Arg595Gln) c.*176G>A (n.*176G>A) c.1757G>A (p.Arg586Gln) n.1237G>A c.*172G>A (n.*172G>A) c.1880G>A (p.Arg627Gln) n.1984G>A c.1763G>A (p.Arg588Gln) c.1700G>A (p.Arg567Gln) c.1799G>A (p.Arg600Gln) n.2221G>A c.1688G>A (p.Arg563Gln) n.2201G>A n.2027G>A c.1490G>A (p.Arg497Gln) n.753G>A n.515G>A c.1706G>A (p.Arg569Gln) c.1724G>A (p.Arg575Gln) | dbSNP gnomAD v4 |
17 | g.42323109G>A | CA8575215 | STAT3 | c.1783C>T (p.Arg595Trp) c.*175C>T (n.*175C>T) c.1756C>T (p.Arg586Trp) n.1236C>T c.*171C>T (n.*171C>T) c.1879C>T (p.Arg627Trp) n.1983C>T c.1762C>T (p.Arg588Trp) c.1699C>T (p.Arg567Trp) c.1798C>T (p.Arg600Trp) n.2220C>T c.1687C>T (p.Arg563Trp) n.2200C>T n.2026C>T c.1489C>T (p.Arg497Trp) n.752C>T n.514C>T c.1705C>T (p.Arg569Trp) c.1723C>T (p.Arg575Trp) | dbSNP ExAC |
17 | g.42323109G>C | CA399583126 | STAT3 | c.1783C>G (p.Arg595Gly) c.*175C>G (n.*175C>G) c.1756C>G (p.Arg586Gly) n.1236C>G c.*171C>G (n.*171C>G) c.1879C>G (p.Arg627Gly) n.1983C>G c.1762C>G (p.Arg588Gly) c.1699C>G (p.Arg567Gly) c.1798C>G (p.Arg600Gly) n.2220C>G c.1687C>G (p.Arg563Gly) n.2200C>G n.2026C>G c.1489C>G (p.Arg497Gly) n.752C>G n.514C>G c.1705C>G (p.Arg569Gly) c.1723C>G (p.Arg575Gly) | dbSNP |
17 | g.42323109G= | CA2260431002 | STAT3 | c.1783C= (p.Arg595=) c.*175C= (n.*175C=) c.1756C= (p.Arg586=) n.1236C= c.*171C= (n.*171C=) c.1879C= (p.Arg627=) n.1983C= c.1762C= (p.Arg588=) c.1699C= (p.Arg567=) c.1798C= (p.Arg600=) n.2220C= c.1687C= (p.Arg563=) n.2200C= n.2026C= c.1489C= (p.Arg497=) n.752C= n.514C= c.1705C= (p.Arg569=) c.1723C= (p.Arg575=) | |
17 | g.42323109G>T | CA500061227 | STAT3 | c.1783C>A (p.Arg595=) c.*175C>A (n.*175C>A) c.1756C>A (p.Arg586=) n.1236C>A c.*171C>A (n.*171C>A) c.1879C>A (p.Arg627=) n.1983C>A c.1762C>A (p.Arg588=) c.1699C>A (p.Arg567=) c.1798C>A (p.Arg600=) n.2220C>A c.1687C>A (p.Arg563=) n.2200C>A n.2026C>A c.1489C>A (p.Arg497=) n.752C>A n.514C>A c.1705C>A (p.Arg569=) c.1723C>A (p.Arg575=) | dbSNP gnomAD v4 |
17 | g.42323110C>A | CA399583129 | STAT3 | c.1782G>T (p.Glu594Asp) c.*174G>T (n.*174G>T) c.1755G>T (p.Glu585Asp) n.1235G>T c.*170G>T (n.*170G>T) c.1878G>T (p.Glu626Asp) n.1982G>T c.1761G>T (p.Glu587Asp) c.1698G>T (p.Glu566Asp) c.1797G>T (p.Glu599Asp) n.2219G>T c.1686G>T (p.Glu562Asp) n.2199G>T n.2025G>T c.1488G>T (p.Glu496Asp) n.751G>T n.513G>T c.1704G>T (p.Glu568Asp) c.1722G>T (p.Glu574Asp) | |
17 | g.42323110C>G | CA399583130 | STAT3 | c.1782G>C (p.Glu594Asp) c.*174G>C (n.*174G>C) c.1755G>C (p.Glu585Asp) n.1235G>C c.*170G>C (n.*170G>C) c.1878G>C (p.Glu626Asp) n.1982G>C c.1761G>C (p.Glu587Asp) c.1698G>C (p.Glu566Asp) c.1797G>C (p.Glu599Asp) n.2219G>C c.1686G>C (p.Glu562Asp) n.2199G>C n.2025G>C c.1488G>C (p.Glu496Asp) n.751G>C n.513G>C c.1704G>C (p.Glu568Asp) c.1722G>C (p.Glu574Asp) | dbSNP |
17 | g.42323110C>T | CA500061228 | STAT3 | c.1782G>A (p.Glu594=) c.*174G>A (n.*174G>A) c.1755G>A (p.Glu585=) n.1235G>A c.*170G>A (n.*170G>A) c.1878G>A (p.Glu626=) n.1982G>A c.1761G>A (p.Glu587=) c.1698G>A (p.Glu566=) c.1797G>A (p.Glu599=) n.2219G>A c.1686G>A (p.Glu562=) n.2199G>A n.2025G>A c.1488G>A (p.Glu496=) n.751G>A n.513G>A c.1704G>A (p.Glu568=) c.1722G>A (p.Glu574=) | |
17 | g.42323111T>A | CA399583131 | STAT3 | c.1781A>T (p.Glu594Val) c.*173A>T (n.*173A>T) c.1754A>T (p.Glu585Val) n.1234A>T c.*169A>T (n.*169A>T) c.1877A>T (p.Glu626Val) n.1981A>T c.1760A>T (p.Glu587Val) c.1697A>T (p.Glu566Val) c.1796A>T (p.Glu599Val) n.2218A>T c.1685A>T (p.Glu562Val) n.2198A>T n.2024A>T c.1487A>T (p.Glu496Val) n.750A>T n.512A>T c.1703A>T (p.Glu568Val) c.1721A>T (p.Glu574Val) | |
17 | g.42323111T>C | CA399583132 | STAT3 | c.1781A>G (p.Glu594Gly) c.*173A>G (n.*173A>G) c.1754A>G (p.Glu585Gly) n.1234A>G c.*169A>G (n.*169A>G) c.1877A>G (p.Glu626Gly) n.1981A>G c.1760A>G (p.Glu587Gly) c.1697A>G (p.Glu566Gly) c.1796A>G (p.Glu599Gly) n.2218A>G c.1685A>G (p.Glu562Gly) n.2198A>G n.2024A>G c.1487A>G (p.Glu496Gly) n.750A>G n.512A>G c.1703A>G (p.Glu568Gly) c.1721A>G (p.Glu574Gly) | |
17 | g.42323111T>G | CA399583134 | STAT3 | c.1781A>C (p.Glu594Ala) c.*173A>C (n.*173A>C) c.1754A>C (p.Glu585Ala) n.1234A>C c.*169A>C (n.*169A>C) c.1877A>C (p.Glu626Ala) n.1981A>C c.1760A>C (p.Glu587Ala) c.1697A>C (p.Glu566Ala) c.1796A>C (p.Glu599Ala) n.2218A>C c.1685A>C (p.Glu562Ala) n.2198A>C n.2024A>C c.1487A>C (p.Glu496Ala) n.750A>C n.512A>C c.1703A>C (p.Glu568Ala) c.1721A>C (p.Glu574Ala) | |
17 | g.42323112C>A | CA399583137 | STAT3 | c.1780G>T (p.Glu594Ter) c.*172G>T (n.*172G>T) c.1753G>T (p.Glu585Ter) n.1233G>T c.*168G>T (n.*168G>T) c.1876G>T (p.Glu626Ter) n.1980G>T c.1759G>T (p.Glu587Ter) c.1696G>T (p.Glu566Ter) c.1795G>T (p.Glu599Ter) n.2217G>T c.1684G>T (p.Glu562Ter) n.2197G>T n.2023G>T c.1486G>T (p.Glu496Ter) n.749G>T n.511G>T c.1702G>T (p.Glu568Ter) c.1720G>T (p.Glu574Ter) | |
17 | g.42323112C= | CA2260431003 | STAT3 | c.1780G= (p.Glu594=) c.*172G= (n.*172G=) c.1753G= (p.Glu585=) n.1233G= c.*168G= (n.*168G=) c.1876G= (p.Glu626=) n.1980G= c.1759G= (p.Glu587=) c.1696G= (p.Glu566=) c.1795G= (p.Glu599=) n.2217G= c.1684G= (p.Glu562=) n.2197G= n.2023G= c.1486G= (p.Glu496=) n.749G= n.511G= c.1702G= (p.Glu568=) c.1720G= (p.Glu574=) | |
17 | g.42323112C>G | CA399583138 | STAT3 | c.1780G>C (p.Glu594Gln) c.*172G>C (n.*172G>C) c.1753G>C (p.Glu585Gln) n.1233G>C c.*168G>C (n.*168G>C) c.1876G>C (p.Glu626Gln) n.1980G>C c.1759G>C (p.Glu587Gln) c.1696G>C (p.Glu566Gln) c.1795G>C (p.Glu599Gln) n.2217G>C c.1684G>C (p.Glu562Gln) n.2197G>C n.2023G>C c.1486G>C (p.Glu496Gln) n.749G>C n.511G>C c.1702G>C (p.Glu568Gln) c.1720G>C (p.Glu574Gln) | dbSNP |
17 | g.42323112C>T | CA260543 | STAT3 | c.1780G>A (p.Glu594Lys) c.*172G>A (n.*172G>A) c.1753G>A (p.Glu585Lys) n.1233G>A c.*168G>A (n.*168G>A) c.1876G>A (p.Glu626Lys) n.1980G>A c.1759G>A (p.Glu587Lys) c.1696G>A (p.Glu566Lys) c.1795G>A (p.Glu599Lys) n.2217G>A c.1684G>A (p.Glu562Lys) n.2197G>A n.2023G>A c.1486G>A (p.Glu496Lys) n.749G>A n.511G>A c.1702G>A (p.Glu568Lys) c.1720G>A (p.Glu574Lys) | ClinVar dbSNP COSMIC |