Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42322289_42322318del | CA2695225850 | STAT3 | c.2069_2098del (p.Glu690_Pro699del) c.*461_*490del (n.*461_*490del) c.2042_2071del (p.Glu681_Pro690del) n.1522_1551del c.*457_*486del (n.*457_*486del) c.2165_2194del (p.Glu722_Pro731del) n.2269_2298del c.2048_2077del (p.Glu683_Pro692del) c.1985_2014del (p.Glu662_Pro671del) c.2084_2113del (p.Glu695_Pro704del) n.2506_2535del c.1973_2002del (p.Glu658_Pro667del) n.2486_2515del n.2312_2341del c.1775_1804del (p.Glu592_Pro601del) c.1991_2020del (p.Glu664_Pro673del) c.2009_2038del (p.Glu670_Pro679del) | |
17 | g.42322312T>A | CA399581373 | STAT3 | c.2071A>T (p.Ser691Cys) c.*463A>T (n.*463A>T) c.2044A>T (p.Ser682Cys) n.1524A>T c.*459A>T (n.*459A>T) c.2167A>T (p.Ser723Cys) n.2271A>T c.2050A>T (p.Ser684Cys) c.1987A>T (p.Ser663Cys) c.2086A>T (p.Ser696Cys) n.2508A>T c.1975A>T (p.Ser659Cys) n.2488A>T n.2314A>T c.1777A>T (p.Ser593Cys) c.1993A>T (p.Ser665Cys) c.2011A>T (p.Ser671Cys) | COSMIC |
17 | g.42322312T>C | CA399581372 | STAT3 | c.2071A>G (p.Ser691Gly) c.*463A>G (n.*463A>G) c.2044A>G (p.Ser682Gly) n.1524A>G c.*459A>G (n.*459A>G) c.2167A>G (p.Ser723Gly) n.2271A>G c.2050A>G (p.Ser684Gly) c.1987A>G (p.Ser663Gly) c.2086A>G (p.Ser696Gly) n.2508A>G c.1975A>G (p.Ser659Gly) n.2488A>G n.2314A>G c.1777A>G (p.Ser593Gly) c.1993A>G (p.Ser665Gly) c.2011A>G (p.Ser671Gly) | |
17 | g.42322312T>G | CA399581371 | STAT3 | c.2071A>C (p.Ser691Arg) c.*463A>C (n.*463A>C) c.2044A>C (p.Ser682Arg) n.1524A>C c.*459A>C (n.*459A>C) c.2167A>C (p.Ser723Arg) n.2271A>C c.2050A>C (p.Ser684Arg) c.1987A>C (p.Ser663Arg) c.2086A>C (p.Ser696Arg) n.2508A>C c.1975A>C (p.Ser659Arg) n.2488A>C n.2314A>C c.1777A>C (p.Ser593Arg) c.1993A>C (p.Ser665Arg) c.2011A>C (p.Ser671Arg) | |
17 | g.42322313C>A | CA399581375 | STAT3 | c.2070G>T (p.Glu690Asp) c.*462G>T (n.*462G>T) c.2043G>T (p.Glu681Asp) n.1523G>T c.*458G>T (n.*458G>T) c.2166G>T (p.Glu722Asp) n.2270G>T c.2049G>T (p.Glu683Asp) c.1986G>T (p.Glu662Asp) c.2085G>T (p.Glu695Asp) n.2507G>T c.1974G>T (p.Glu658Asp) n.2487G>T n.2313G>T c.1776G>T (p.Glu592Asp) c.1992G>T (p.Glu664Asp) c.2010G>T (p.Glu670Asp) | |
17 | g.42322313C>G | CA399581376 | STAT3 | c.2070G>C (p.Glu690Asp) c.*462G>C (n.*462G>C) c.2043G>C (p.Glu681Asp) n.1523G>C c.*458G>C (n.*458G>C) c.2166G>C (p.Glu722Asp) n.2270G>C c.2049G>C (p.Glu683Asp) c.1986G>C (p.Glu662Asp) c.2085G>C (p.Glu695Asp) n.2507G>C c.1974G>C (p.Glu658Asp) n.2487G>C n.2313G>C c.1776G>C (p.Glu592Asp) c.1992G>C (p.Glu664Asp) c.2010G>C (p.Glu670Asp) | dbSNP |
17 | g.42322313C>T | CA500061015 | STAT3 | c.2070G>A (p.Glu690=) c.*462G>A (n.*462G>A) c.2043G>A (p.Glu681=) n.1523G>A c.*458G>A (n.*458G>A) c.2166G>A (p.Glu722=) n.2270G>A c.2049G>A (p.Glu683=) c.1986G>A (p.Glu662=) c.2085G>A (p.Glu695=) n.2507G>A c.1974G>A (p.Glu658=) n.2487G>A n.2313G>A c.1776G>A (p.Glu592=) c.1992G>A (p.Glu664=) c.2010G>A (p.Glu670=) | dbSNP |
17 | g.42322314T>A | CA399581380 | STAT3 | c.2069A>T (p.Glu690Val) c.*461A>T (n.*461A>T) c.2042A>T (p.Glu681Val) n.1522A>T c.*457A>T (n.*457A>T) c.2165A>T (p.Glu722Val) n.2269A>T c.2048A>T (p.Glu683Val) c.1985A>T (p.Glu662Val) c.2084A>T (p.Glu695Val) n.2506A>T c.1973A>T (p.Glu658Val) n.2486A>T n.2312A>T c.1775A>T (p.Glu592Val) c.1991A>T (p.Glu664Val) c.2009A>T (p.Glu670Val) | |
17 | g.42322314T>C | CA399581381 | STAT3 | c.2069A>G (p.Glu690Gly) c.*461A>G (n.*461A>G) c.2042A>G (p.Glu681Gly) n.1522A>G c.*457A>G (n.*457A>G) c.2165A>G (p.Glu722Gly) n.2269A>G c.2048A>G (p.Glu683Gly) c.1985A>G (p.Glu662Gly) c.2084A>G (p.Glu695Gly) n.2506A>G c.1973A>G (p.Glu658Gly) n.2486A>G n.2312A>G c.1775A>G (p.Glu592Gly) c.1991A>G (p.Glu664Gly) c.2009A>G (p.Glu670Gly) | dbSNP |
17 | g.42322314T>G | CA399581384 | STAT3 | c.2069A>C (p.Glu690Ala) c.*461A>C (n.*461A>C) c.2042A>C (p.Glu681Ala) n.1522A>C c.*457A>C (n.*457A>C) c.2165A>C (p.Glu722Ala) n.2269A>C c.2048A>C (p.Glu683Ala) c.1985A>C (p.Glu662Ala) c.2084A>C (p.Glu695Ala) n.2506A>C c.1973A>C (p.Glu658Ala) n.2486A>C n.2312A>C c.1775A>C (p.Glu592Ala) c.1991A>C (p.Glu664Ala) c.2009A>C (p.Glu670Ala) | |
17 | g.42322315C>A | CA399581385 | STAT3 | c.2068G>T (p.Glu690Ter) c.*460G>T (n.*460G>T) c.2041G>T (p.Glu681Ter) n.1521G>T c.*456G>T (n.*456G>T) c.2164G>T (p.Glu722Ter) n.2268G>T c.2047G>T (p.Glu683Ter) c.1984G>T (p.Glu662Ter) c.2083G>T (p.Glu695Ter) n.2505G>T c.1972G>T (p.Glu658Ter) n.2485G>T n.2311G>T c.1774G>T (p.Glu592Ter) c.1990G>T (p.Glu664Ter) c.2008G>T (p.Glu670Ter) | dbSNP |
17 | g.42322315C>G | CA399581386 | STAT3 | c.2068G>C (p.Glu690Gln) c.*460G>C (n.*460G>C) c.2041G>C (p.Glu681Gln) n.1521G>C c.*456G>C (n.*456G>C) c.2164G>C (p.Glu722Gln) n.2268G>C c.2047G>C (p.Glu683Gln) c.1984G>C (p.Glu662Gln) c.2083G>C (p.Glu695Gln) n.2505G>C c.1972G>C (p.Glu658Gln) n.2485G>C n.2311G>C c.1774G>C (p.Glu592Gln) c.1990G>C (p.Glu664Gln) c.2008G>C (p.Glu670Gln) | dbSNP |
17 | g.42322315C>T | CA399581387 | STAT3 | c.2068G>A (p.Glu690Lys) c.*460G>A (n.*460G>A) c.2041G>A (p.Glu681Lys) n.1521G>A c.*456G>A (n.*456G>A) c.2164G>A (p.Glu722Lys) n.2268G>A c.2047G>A (p.Glu683Lys) c.1984G>A (p.Glu662Lys) c.2083G>A (p.Glu695Lys) n.2505G>A c.1972G>A (p.Glu658Lys) n.2485G>A n.2311G>A c.1774G>A (p.Glu592Lys) c.1990G>A (p.Glu664Lys) c.2008G>A (p.Glu670Lys) | dbSNP |
17 | g.42322316T>A | CA500061017 | STAT3 | c.2067A>T (p.Pro689=) c.*459A>T (n.*459A>T) c.2040A>T (p.Pro680=) n.1520A>T c.*455A>T (n.*455A>T) c.2163A>T (p.Pro721=) n.2267A>T c.2046A>T (p.Pro682=) c.1983A>T (p.Pro661=) c.2082A>T (p.Pro694=) n.2504A>T c.1971A>T (p.Pro657=) n.2484A>T n.2310A>T c.1773A>T (p.Pro591=) c.1989A>T (p.Pro663=) c.2007A>T (p.Pro669=) | |
17 | g.42322316T>C | CA500061018 | STAT3 | c.2067A>G (p.Pro689=) c.*459A>G (n.*459A>G) c.2040A>G (p.Pro680=) n.1520A>G c.*455A>G (n.*455A>G) c.2163A>G (p.Pro721=) n.2267A>G c.2046A>G (p.Pro682=) c.1983A>G (p.Pro661=) c.2082A>G (p.Pro694=) n.2504A>G c.1971A>G (p.Pro657=) n.2484A>G n.2310A>G c.1773A>G (p.Pro591=) c.1989A>G (p.Pro663=) c.2007A>G (p.Pro669=) | |
17 | g.42322316T>G | CA500061016 | STAT3 | c.2067A>C (p.Pro689=) c.*459A>C (n.*459A>C) c.2040A>C (p.Pro680=) n.1520A>C c.*455A>C (n.*455A>C) c.2163A>C (p.Pro721=) n.2267A>C c.2046A>C (p.Pro682=) c.1983A>C (p.Pro661=) c.2082A>C (p.Pro694=) n.2504A>C c.1971A>C (p.Pro657=) n.2484A>C n.2310A>C c.1773A>C (p.Pro591=) c.1989A>C (p.Pro663=) c.2007A>C (p.Pro669=) | |
17 | g.42322317G>A | CA399581389 | STAT3 | c.2066C>T (p.Pro689Leu) c.*458C>T (n.*458C>T) c.2039C>T (p.Pro680Leu) n.1519C>T c.*454C>T (n.*454C>T) c.2162C>T (p.Pro721Leu) n.2266C>T c.2045C>T (p.Pro682Leu) c.1982C>T (p.Pro661Leu) c.2081C>T (p.Pro694Leu) n.2503C>T c.1970C>T (p.Pro657Leu) n.2483C>T n.2309C>T c.1772C>T (p.Pro591Leu) c.1988C>T (p.Pro663Leu) c.2006C>T (p.Pro669Leu) | gnomAD v4 |
17 | g.42322317G>C | CA399581390 | STAT3 | c.2066C>G (p.Pro689Arg) c.*458C>G (n.*458C>G) c.2039C>G (p.Pro680Arg) n.1519C>G c.*454C>G (n.*454C>G) c.2162C>G (p.Pro721Arg) n.2266C>G c.2045C>G (p.Pro682Arg) c.1982C>G (p.Pro661Arg) c.2081C>G (p.Pro694Arg) n.2503C>G c.1970C>G (p.Pro657Arg) n.2483C>G n.2309C>G c.1772C>G (p.Pro591Arg) c.1988C>G (p.Pro663Arg) c.2006C>G (p.Pro669Arg) | dbSNP |
17 | g.42322317G>T | CA399581392 | STAT3 | c.2066C>A (p.Pro689Gln) c.*458C>A (n.*458C>A) c.2039C>A (p.Pro680Gln) n.1519C>A c.*454C>A (n.*454C>A) c.2162C>A (p.Pro721Gln) n.2266C>A c.2045C>A (p.Pro682Gln) c.1982C>A (p.Pro661Gln) c.2081C>A (p.Pro694Gln) n.2503C>A c.1970C>A (p.Pro657Gln) n.2483C>A n.2309C>A c.1772C>A (p.Pro591Gln) c.1988C>A (p.Pro663Gln) c.2006C>A (p.Pro669Gln) | dbSNP |
17 | g.42322318del | CA2733829816 | STAT3 | c.2066del (p.Pro689GlnfsTer18) c.*458del (n.*458del) c.2039del (p.Pro680GlnfsTer17) c.2066del (p.Pro689GlnfsTer17) n.1519del c.*454del (n.*454del) c.2162del (p.Pro721GlnfsTer18) c.2039del (p.Pro680GlnfsTer18) c.2066del (p.Pro689GlnfsTer14) n.2266del c.2045del (p.Pro682GlnfsTer18) c.1982del (p.Pro661GlnfsTer18) c.2081del (p.Pro694GlnfsTer18) n.2503del c.1970del (p.Pro657GlnfsTer17) n.2483del c.2081del (p.Pro694GlnfsTer17) n.2309del c.1772del (p.Pro591GlnfsTer18) c.1988del (p.Pro663GlnfsTer18) c.2006del (p.Pro669GlnfsTer18) | dbSNP |
17 | g.42322318G>A | CA399581397 | STAT3 | c.2065C>T (p.Pro689Ser) c.*457C>T (n.*457C>T) c.2038C>T (p.Pro680Ser) n.1518C>T c.*453C>T (n.*453C>T) c.2161C>T (p.Pro721Ser) n.2265C>T c.2044C>T (p.Pro682Ser) c.1981C>T (p.Pro661Ser) c.2080C>T (p.Pro694Ser) n.2502C>T c.1969C>T (p.Pro657Ser) n.2482C>T n.2308C>T c.1771C>T (p.Pro591Ser) c.1987C>T (p.Pro663Ser) c.2005C>T (p.Pro669Ser) | dbSNP |
17 | g.42322318G>C | CA399581395 | STAT3 | c.2065C>G (p.Pro689Ala) c.*457C>G (n.*457C>G) c.2038C>G (p.Pro680Ala) n.1518C>G c.*453C>G (n.*453C>G) c.2161C>G (p.Pro721Ala) n.2265C>G c.2044C>G (p.Pro682Ala) c.1981C>G (p.Pro661Ala) c.2080C>G (p.Pro694Ala) n.2502C>G c.1969C>G (p.Pro657Ala) n.2482C>G n.2308C>G c.1771C>G (p.Pro591Ala) c.1987C>G (p.Pro663Ala) c.2005C>G (p.Pro669Ala) | dbSNP |
17 | g.42322318G>T | CA399581394 | STAT3 | c.2065C>A (p.Pro689Thr) c.*457C>A (n.*457C>A) c.2038C>A (p.Pro680Thr) n.1518C>A c.*453C>A (n.*453C>A) c.2161C>A (p.Pro721Thr) n.2265C>A c.2044C>A (p.Pro682Thr) c.1981C>A (p.Pro661Thr) c.2080C>A (p.Pro694Thr) n.2502C>A c.1969C>A (p.Pro657Thr) n.2482C>A n.2308C>A c.1771C>A (p.Pro591Thr) c.1987C>A (p.Pro663Thr) c.2005C>A (p.Pro669Thr) | dbSNP |
17 | g.42322319C>A | CA500061019 | STAT3 | c.2064G>T (p.Arg688=) c.*456G>T (n.*456G>T) c.2037G>T (p.Arg679=) n.1517G>T c.*452G>T (n.*452G>T) c.2160G>T (p.Arg720=) n.2264G>T c.2043G>T (p.Arg681=) c.1980G>T (p.Arg660=) c.2079G>T (p.Arg693=) n.2501G>T c.1968G>T (p.Arg656=) n.2481G>T n.2307G>T c.1770G>T (p.Arg590=) c.1986G>T (p.Arg662=) c.2004G>T (p.Arg668=) | |
17 | g.42322319C>G | CA500061020 | STAT3 | c.2064G>C (p.Arg688=) c.*456G>C (n.*456G>C) c.2037G>C (p.Arg679=) n.1517G>C c.*452G>C (n.*452G>C) c.2160G>C (p.Arg720=) n.2264G>C c.2043G>C (p.Arg681=) c.1980G>C (p.Arg660=) c.2079G>C (p.Arg693=) n.2501G>C c.1968G>C (p.Arg656=) n.2481G>C n.2307G>C c.1770G>C (p.Arg590=) c.1986G>C (p.Arg662=) c.2004G>C (p.Arg668=) | dbSNP |
17 | g.42322319C>T | CA500061021 | STAT3 | c.2064G>A (p.Arg688=) c.*456G>A (n.*456G>A) c.2037G>A (p.Arg679=) n.1517G>A c.*452G>A (n.*452G>A) c.2160G>A (p.Arg720=) n.2264G>A c.2043G>A (p.Arg681=) c.1980G>A (p.Arg660=) c.2079G>A (p.Arg693=) n.2501G>A c.1968G>A (p.Arg656=) n.2481G>A n.2307G>A c.1770G>A (p.Arg590=) c.1986G>A (p.Arg662=) c.2004G>A (p.Arg668=) | ClinVar dbSNP |
17 | g.42322320C>A | CA399581399 | STAT3 | c.2063G>T (p.Arg688Leu) c.*455G>T (n.*455G>T) c.2036G>T (p.Arg679Leu) n.1516G>T c.*451G>T (n.*451G>T) c.2159G>T (p.Arg720Leu) n.2263G>T c.2042G>T (p.Arg681Leu) c.1979G>T (p.Arg660Leu) c.2078G>T (p.Arg693Leu) n.2500G>T c.1967G>T (p.Arg656Leu) n.2480G>T n.2306G>T c.1769G>T (p.Arg590Leu) c.1985G>T (p.Arg662Leu) c.2003G>T (p.Arg668Leu) | dbSNP |
17 | g.42322320C= | CA2260430710 | STAT3 | c.2063G= (p.Arg688=) c.*455G= (n.*455G=) c.2036G= (p.Arg679=) n.1516G= c.*451G= (n.*451G=) c.2159G= (p.Arg720=) n.2263G= c.2042G= (p.Arg681=) c.1979G= (p.Arg660=) c.2078G= (p.Arg693=) n.2500G= c.1967G= (p.Arg656=) n.2480G= n.2306G= c.1769G= (p.Arg590=) c.1985G= (p.Arg662=) c.2003G= (p.Arg668=) | |
17 | g.42322320C>G | CA399581401 | STAT3 | c.2063G>C (p.Arg688Pro) c.*455G>C (n.*455G>C) c.2036G>C (p.Arg679Pro) n.1516G>C c.*451G>C (n.*451G>C) c.2159G>C (p.Arg720Pro) n.2263G>C c.2042G>C (p.Arg681Pro) c.1979G>C (p.Arg660Pro) c.2078G>C (p.Arg693Pro) n.2500G>C c.1967G>C (p.Arg656Pro) n.2480G>C n.2306G>C c.1769G>C (p.Arg590Pro) c.1985G>C (p.Arg662Pro) c.2003G>C (p.Arg668Pro) | dbSNP |
17 | g.42322320C>T | CA399581402 | STAT3 | c.2063G>A (p.Arg688Gln) c.*455G>A (n.*455G>A) c.2036G>A (p.Arg679Gln) n.1516G>A c.*451G>A (n.*451G>A) c.2159G>A (p.Arg720Gln) n.2263G>A c.2042G>A (p.Arg681Gln) c.1979G>A (p.Arg660Gln) c.2078G>A (p.Arg693Gln) n.2500G>A c.1967G>A (p.Arg656Gln) n.2480G>A n.2306G>A c.1769G>A (p.Arg590Gln) c.1985G>A (p.Arg662Gln) c.2003G>A (p.Arg668Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42322321G>A | CA399581405 | STAT3 | c.2062C>T (p.Arg688Trp) c.*454C>T (n.*454C>T) c.2035C>T (p.Arg679Trp) n.1515C>T c.*450C>T (n.*450C>T) c.2158C>T (p.Arg720Trp) n.2262C>T c.2041C>T (p.Arg681Trp) c.1978C>T (p.Arg660Trp) c.2077C>T (p.Arg693Trp) n.2499C>T c.1966C>T (p.Arg656Trp) n.2479C>T n.2305C>T c.1768C>T (p.Arg590Trp) c.1984C>T (p.Arg662Trp) c.2002C>T (p.Arg668Trp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42322321G>C | CA399581406 | STAT3 | c.2062C>G (p.Arg688Gly) c.*454C>G (n.*454C>G) c.2035C>G (p.Arg679Gly) n.1515C>G c.*450C>G (n.*450C>G) c.2158C>G (p.Arg720Gly) n.2262C>G c.2041C>G (p.Arg681Gly) c.1978C>G (p.Arg660Gly) c.2077C>G (p.Arg693Gly) n.2499C>G c.1966C>G (p.Arg656Gly) n.2479C>G n.2305C>G c.1768C>G (p.Arg590Gly) c.1984C>G (p.Arg662Gly) c.2002C>G (p.Arg668Gly) | dbSNP |
17 | g.42322321G>T | CA500061022 | STAT3 | c.2062C>A (p.Arg688=) c.*454C>A (n.*454C>A) c.2035C>A (p.Arg679=) n.1515C>A c.*450C>A (n.*450C>A) c.2158C>A (p.Arg720=) n.2262C>A c.2041C>A (p.Arg681=) c.1978C>A (p.Arg660=) c.2077C>A (p.Arg693=) n.2499C>A c.1966C>A (p.Arg656=) n.2479C>A n.2305C>A c.1768C>A (p.Arg590=) c.1984C>A (p.Arg662=) c.2002C>A (p.Arg668=) | gnomAD v4 |
17 | g.42322322A>C | CA399581408 | STAT3 | c.2061T>G (p.Cys687Trp) c.*453T>G (n.*453T>G) c.2034T>G (p.Cys678Trp) n.1514T>G c.*449T>G (n.*449T>G) c.2157T>G (p.Cys719Trp) n.2261T>G c.2040T>G (p.Cys680Trp) c.1977T>G (p.Cys659Trp) c.2076T>G (p.Cys692Trp) n.2498T>G c.1965T>G (p.Cys655Trp) n.2478T>G n.2304T>G c.1767T>G (p.Cys589Trp) c.1983T>G (p.Cys661Trp) c.2001T>G (p.Cys667Trp) | dbSNP |
17 | g.42322322A>G | CA500061023 | STAT3 | c.2061T>C (p.Cys687=) c.*453T>C (n.*453T>C) c.2034T>C (p.Cys678=) n.1514T>C c.*449T>C (n.*449T>C) c.2157T>C (p.Cys719=) n.2261T>C c.2040T>C (p.Cys680=) c.1977T>C (p.Cys659=) c.2076T>C (p.Cys692=) n.2498T>C c.1965T>C (p.Cys655=) n.2478T>C n.2304T>C c.1767T>C (p.Cys589=) c.1983T>C (p.Cys661=) c.2001T>C (p.Cys667=) | dbSNP |
17 | g.42322322A>T | CA399581410 | STAT3 | c.2061T>A (p.Cys687Ter) c.*453T>A (n.*453T>A) c.2034T>A (p.Cys678Ter) n.1514T>A c.*449T>A (n.*449T>A) c.2157T>A (p.Cys719Ter) n.2261T>A c.2040T>A (p.Cys680Ter) c.1977T>A (p.Cys659Ter) c.2076T>A (p.Cys692Ter) n.2498T>A c.1965T>A (p.Cys655Ter) n.2478T>A n.2304T>A c.1767T>A (p.Cys589Ter) c.1983T>A (p.Cys661Ter) c.2001T>A (p.Cys667Ter) | dbSNP |
17 | g.42322323C>A | CA399581411 | STAT3 | c.2060G>T (p.Cys687Phe) c.*452G>T (n.*452G>T) c.2033G>T (p.Cys678Phe) n.1513G>T c.*448G>T (n.*448G>T) c.2156G>T (p.Cys719Phe) n.2260G>T c.2039G>T (p.Cys680Phe) c.1976G>T (p.Cys659Phe) c.2075G>T (p.Cys692Phe) n.2497G>T c.1964G>T (p.Cys655Phe) n.2477G>T n.2303G>T c.1766G>T (p.Cys589Phe) c.1982G>T (p.Cys661Phe) c.2000G>T (p.Cys667Phe) | dbSNP |
17 | g.42322323C= | CA2260430711 | STAT3 | c.2060G= (p.Cys687=) c.*452G= (n.*452G=) c.2033G= (p.Cys678=) n.1513G= c.*448G= (n.*448G=) c.2156G= (p.Cys719=) n.2260G= c.2039G= (p.Cys680=) c.1976G= (p.Cys659=) c.2075G= (p.Cys692=) n.2497G= c.1964G= (p.Cys655=) n.2477G= n.2303G= c.1766G= (p.Cys589=) c.1982G= (p.Cys661=) c.2000G= (p.Cys667=) | |
17 | g.42322323C>G | CA399581414 | STAT3 | c.2060G>C (p.Cys687Ser) c.*452G>C (n.*452G>C) c.2033G>C (p.Cys678Ser) n.1513G>C c.*448G>C (n.*448G>C) c.2156G>C (p.Cys719Ser) n.2260G>C c.2039G>C (p.Cys680Ser) c.1976G>C (p.Cys659Ser) c.2075G>C (p.Cys692Ser) n.2497G>C c.1964G>C (p.Cys655Ser) n.2477G>C n.2303G>C c.1766G>C (p.Cys589Ser) c.1982G>C (p.Cys661Ser) c.2000G>C (p.Cys667Ser) | dbSNP |
17 | g.42322323C>T | CA8575173 | STAT3 | c.2060G>A (p.Cys687Tyr) c.*452G>A (n.*452G>A) c.2033G>A (p.Cys678Tyr) n.1513G>A c.*448G>A (n.*448G>A) c.2156G>A (p.Cys719Tyr) n.2260G>A c.2039G>A (p.Cys680Tyr) c.1976G>A (p.Cys659Tyr) c.2075G>A (p.Cys692Tyr) n.2497G>A c.1964G>A (p.Cys655Tyr) n.2477G>A n.2303G>A c.1766G>A (p.Cys589Tyr) c.1982G>A (p.Cys661Tyr) c.2000G>A (p.Cys667Tyr) | dbSNP ExAC |
17 | g.42322324A>C | CA399581416 | STAT3 | c.2059T>G (p.Cys687Gly) c.*451T>G (n.*451T>G) c.2032T>G (p.Cys678Gly) n.1512T>G c.*447T>G (n.*447T>G) c.2155T>G (p.Cys719Gly) n.2259T>G c.2038T>G (p.Cys680Gly) c.1975T>G (p.Cys659Gly) c.2074T>G (p.Cys692Gly) n.2496T>G c.1963T>G (p.Cys655Gly) n.2476T>G n.2302T>G c.1765T>G (p.Cys589Gly) c.1981T>G (p.Cys661Gly) c.1999T>G (p.Cys667Gly) | |
17 | g.42322324A>G | CA399581417 | STAT3 | c.2059T>C (p.Cys687Arg) c.*451T>C (n.*451T>C) c.2032T>C (p.Cys678Arg) n.1512T>C c.*447T>C (n.*447T>C) c.2155T>C (p.Cys719Arg) n.2259T>C c.2038T>C (p.Cys680Arg) c.1975T>C (p.Cys659Arg) c.2074T>C (p.Cys692Arg) n.2496T>C c.1963T>C (p.Cys655Arg) n.2476T>C n.2302T>C c.1765T>C (p.Cys589Arg) c.1981T>C (p.Cys661Arg) c.1999T>C (p.Cys667Arg) | |
17 | g.42322324A>T | CA399581419 | STAT3 | c.2059T>A (p.Cys687Ser) c.*451T>A (n.*451T>A) c.2032T>A (p.Cys678Ser) n.1512T>A c.*447T>A (n.*447T>A) c.2155T>A (p.Cys719Ser) n.2259T>A c.2038T>A (p.Cys680Ser) c.1975T>A (p.Cys659Ser) c.2074T>A (p.Cys692Ser) n.2496T>A c.1963T>A (p.Cys655Ser) n.2476T>A n.2302T>A c.1765T>A (p.Cys589Ser) c.1981T>A (p.Cys661Ser) c.1999T>A (p.Cys667Ser) | |
17 | g.42322325A>C | CA399581421 | STAT3 | c.2058T>G (p.Tyr686Ter) c.*450T>G (n.*450T>G) c.2031T>G (p.Tyr677Ter) n.1511T>G c.*446T>G (n.*446T>G) c.2154T>G (p.Tyr718Ter) n.2258T>G c.2037T>G (p.Tyr679Ter) c.1974T>G (p.Tyr658Ter) c.2073T>G (p.Tyr691Ter) n.2495T>G c.1962T>G (p.Tyr654Ter) n.2475T>G n.2301T>G c.1764T>G (p.Tyr588Ter) c.1980T>G (p.Tyr660Ter) c.1998T>G (p.Tyr666Ter) | |
17 | g.42322325A>G | CA500061024 | STAT3 | c.2058T>C (p.Tyr686=) c.*450T>C (n.*450T>C) c.2031T>C (p.Tyr677=) n.1511T>C c.*446T>C (n.*446T>C) c.2154T>C (p.Tyr718=) n.2258T>C c.2037T>C (p.Tyr679=) c.1974T>C (p.Tyr658=) c.2073T>C (p.Tyr691=) n.2495T>C c.1962T>C (p.Tyr654=) n.2475T>C n.2301T>C c.1764T>C (p.Tyr588=) c.1980T>C (p.Tyr660=) c.1998T>C (p.Tyr666=) | |
17 | g.42322325A>T | CA399581423 | STAT3 | c.2058T>A (p.Tyr686Ter) c.*450T>A (n.*450T>A) c.2031T>A (p.Tyr677Ter) n.1511T>A c.*446T>A (n.*446T>A) c.2154T>A (p.Tyr718Ter) n.2258T>A c.2037T>A (p.Tyr679Ter) c.1974T>A (p.Tyr658Ter) c.2073T>A (p.Tyr691Ter) n.2495T>A c.1962T>A (p.Tyr654Ter) n.2475T>A n.2301T>A c.1764T>A (p.Tyr588Ter) c.1980T>A (p.Tyr660Ter) c.1998T>A (p.Tyr666Ter) | dbSNP COSMIC |
17 | g.42322326T>A | CA399581425 | STAT3 | c.2057A>T (p.Tyr686Phe) c.*449A>T (n.*449A>T) c.2030A>T (p.Tyr677Phe) n.1510A>T c.*445A>T (n.*445A>T) c.2153A>T (p.Tyr718Phe) n.2257A>T c.2036A>T (p.Tyr679Phe) c.1973A>T (p.Tyr658Phe) c.2072A>T (p.Tyr691Phe) n.2494A>T c.1961A>T (p.Tyr654Phe) n.2474A>T n.2300A>T c.1763A>T (p.Tyr588Phe) c.1979A>T (p.Tyr660Phe) c.1997A>T (p.Tyr666Phe) | dbSNP |
17 | g.42322326T>C | CA399581426 | STAT3 | c.2057A>G (p.Tyr686Cys) c.*449A>G (n.*449A>G) c.2030A>G (p.Tyr677Cys) n.1510A>G c.*445A>G (n.*445A>G) c.2153A>G (p.Tyr718Cys) n.2257A>G c.2036A>G (p.Tyr679Cys) c.1973A>G (p.Tyr658Cys) c.2072A>G (p.Tyr691Cys) n.2494A>G c.1961A>G (p.Tyr654Cys) n.2474A>G n.2300A>G c.1763A>G (p.Tyr588Cys) c.1979A>G (p.Tyr660Cys) c.1997A>G (p.Tyr666Cys) | |
17 | g.42322326T>G | CA399581428 | STAT3 | c.2057A>C (p.Tyr686Ser) c.*449A>C (n.*449A>C) c.2030A>C (p.Tyr677Ser) n.1510A>C c.*445A>C (n.*445A>C) c.2153A>C (p.Tyr718Ser) n.2257A>C c.2036A>C (p.Tyr679Ser) c.1973A>C (p.Tyr658Ser) c.2072A>C (p.Tyr691Ser) n.2494A>C c.1961A>C (p.Tyr654Ser) n.2474A>C n.2300A>C c.1763A>C (p.Tyr588Ser) c.1979A>C (p.Tyr660Ser) c.1997A>C (p.Tyr666Ser) | |
17 | g.42322327A>C | CA399581431 | STAT3 | c.2056T>G (p.Tyr686Asp) c.*448T>G (n.*448T>G) c.2029T>G (p.Tyr677Asp) n.1509T>G c.*444T>G (n.*444T>G) c.2152T>G (p.Tyr718Asp) n.2256T>G c.2035T>G (p.Tyr679Asp) c.1972T>G (p.Tyr658Asp) c.2071T>G (p.Tyr691Asp) n.2493T>G c.1960T>G (p.Tyr654Asp) n.2473T>G n.2299T>G c.1762T>G (p.Tyr588Asp) c.1978T>G (p.Tyr660Asp) c.1996T>G (p.Tyr666Asp) | |
17 | g.42322327A>G | CA399581432 | STAT3 | c.2056T>C (p.Tyr686His) c.*448T>C (n.*448T>C) c.2029T>C (p.Tyr677His) n.1509T>C c.*444T>C (n.*444T>C) c.2152T>C (p.Tyr718His) n.2256T>C c.2035T>C (p.Tyr679His) c.1972T>C (p.Tyr658His) c.2071T>C (p.Tyr691His) n.2493T>C c.1960T>C (p.Tyr654His) n.2473T>C n.2299T>C c.1762T>C (p.Tyr588His) c.1978T>C (p.Tyr660His) c.1996T>C (p.Tyr666His) | |
17 | g.42322327A>T | CA399581434 | STAT3 | c.2056T>A (p.Tyr686Asn) c.*448T>A (n.*448T>A) c.2029T>A (p.Tyr677Asn) n.1509T>A c.*444T>A (n.*444T>A) c.2152T>A (p.Tyr718Asn) n.2256T>A c.2035T>A (p.Tyr679Asn) c.1972T>A (p.Tyr658Asn) c.2071T>A (p.Tyr691Asn) n.2493T>A c.1960T>A (p.Tyr654Asn) n.2473T>A n.2299T>A c.1762T>A (p.Tyr588Asn) c.1978T>A (p.Tyr660Asn) c.1996T>A (p.Tyr666Asn) | dbSNP |
17 | g.42322328C>A | CA399581436 | STAT3 | c.2055G>T (p.Lys685Asn) c.*447G>T (n.*447G>T) c.2028G>T (p.Lys676Asn) n.1508G>T c.*443G>T (n.*443G>T) c.2151G>T (p.Lys717Asn) n.2255G>T c.2034G>T (p.Lys678Asn) c.1971G>T (p.Lys657Asn) c.2070G>T (p.Lys690Asn) n.2492G>T c.1959G>T (p.Lys653Asn) n.2472G>T n.2298G>T c.1761G>T (p.Lys587Asn) c.1977G>T (p.Lys659Asn) c.1995G>T (p.Lys665Asn) | dbSNP |
17 | g.42322328C>G | CA399581438 | STAT3 | c.2055G>C (p.Lys685Asn) c.*447G>C (n.*447G>C) c.2028G>C (p.Lys676Asn) n.1508G>C c.*443G>C (n.*443G>C) c.2151G>C (p.Lys717Asn) n.2255G>C c.2034G>C (p.Lys678Asn) c.1971G>C (p.Lys657Asn) c.2070G>C (p.Lys690Asn) n.2492G>C c.1959G>C (p.Lys653Asn) n.2472G>C n.2298G>C c.1761G>C (p.Lys587Asn) c.1977G>C (p.Lys659Asn) c.1995G>C (p.Lys665Asn) | dbSNP |
17 | g.42322328C>T | CA500061025 | STAT3 | c.2055G>A (p.Lys685=) c.*447G>A (n.*447G>A) c.2028G>A (p.Lys676=) n.1508G>A c.*443G>A (n.*443G>A) c.2151G>A (p.Lys717=) n.2255G>A c.2034G>A (p.Lys678=) c.1971G>A (p.Lys657=) c.2070G>A (p.Lys690=) n.2492G>A c.1959G>A (p.Lys653=) n.2472G>A n.2298G>A c.1761G>A (p.Lys587=) c.1977G>A (p.Lys659=) c.1995G>A (p.Lys665=) | gnomAD v4 |
17 | g.42322329T>A | CA399581440 | STAT3 | c.2054A>T (p.Lys685Met) c.*446A>T (n.*446A>T) c.2027A>T (p.Lys676Met) n.1507A>T c.*442A>T (n.*442A>T) c.2150A>T (p.Lys717Met) n.2254A>T c.2033A>T (p.Lys678Met) c.1970A>T (p.Lys657Met) c.2069A>T (p.Lys690Met) n.2491A>T c.1958A>T (p.Lys653Met) n.2471A>T n.2297A>T c.1760A>T (p.Lys587Met) c.1976A>T (p.Lys659Met) c.1994A>T (p.Lys665Met) | |
17 | g.42322329T>C | CA399581441 | STAT3 | c.2054A>G (p.Lys685Arg) c.*446A>G (n.*446A>G) c.2027A>G (p.Lys676Arg) n.1507A>G c.*442A>G (n.*442A>G) c.2150A>G (p.Lys717Arg) n.2254A>G c.2033A>G (p.Lys678Arg) c.1970A>G (p.Lys657Arg) c.2069A>G (p.Lys690Arg) n.2491A>G c.1958A>G (p.Lys653Arg) n.2471A>G n.2297A>G c.1760A>G (p.Lys587Arg) c.1976A>G (p.Lys659Arg) c.1994A>G (p.Lys665Arg) | |
17 | g.42322329T>G | CA399581443 | STAT3 | c.2054A>C (p.Lys685Thr) c.*446A>C (n.*446A>C) c.2027A>C (p.Lys676Thr) n.1507A>C c.*442A>C (n.*442A>C) c.2150A>C (p.Lys717Thr) n.2254A>C c.2033A>C (p.Lys678Thr) c.1970A>C (p.Lys657Thr) c.2069A>C (p.Lys690Thr) n.2491A>C c.1958A>C (p.Lys653Thr) n.2471A>C n.2297A>C c.1760A>C (p.Lys587Thr) c.1976A>C (p.Lys659Thr) c.1994A>C (p.Lys665Thr) | |
17 | g.42322330T>A | CA399581445 | STAT3 | c.2053A>T (p.Lys685Ter) c.*445A>T (n.*445A>T) c.2026A>T (p.Lys676Ter) n.1506A>T c.*441A>T (n.*441A>T) c.2149A>T (p.Lys717Ter) n.2253A>T c.2032A>T (p.Lys678Ter) c.1969A>T (p.Lys657Ter) c.2068A>T (p.Lys690Ter) n.2490A>T c.1957A>T (p.Lys653Ter) n.2470A>T n.2296A>T c.1759A>T (p.Lys587Ter) c.1975A>T (p.Lys659Ter) c.1993A>T (p.Lys665Ter) | |
17 | g.42322330T>C | CA399581446 | STAT3 | c.2053A>G (p.Lys685Glu) c.*445A>G (n.*445A>G) c.2026A>G (p.Lys676Glu) n.1506A>G c.*441A>G (n.*441A>G) c.2149A>G (p.Lys717Glu) n.2253A>G c.2032A>G (p.Lys678Glu) c.1969A>G (p.Lys657Glu) c.2068A>G (p.Lys690Glu) n.2490A>G c.1957A>G (p.Lys653Glu) n.2470A>G n.2296A>G c.1759A>G (p.Lys587Glu) c.1975A>G (p.Lys659Glu) c.1993A>G (p.Lys665Glu) | |
17 | g.42322330T>G | CA399581444 | STAT3 | c.2053A>C (p.Lys685Gln) c.*445A>C (n.*445A>C) c.2026A>C (p.Lys676Gln) n.1506A>C c.*441A>C (n.*441A>C) c.2149A>C (p.Lys717Gln) n.2253A>C c.2032A>C (p.Lys678Gln) c.1969A>C (p.Lys657Gln) c.2068A>C (p.Lys690Gln) n.2490A>C c.1957A>C (p.Lys653Gln) n.2470A>C n.2296A>C c.1759A>C (p.Lys587Gln) c.1975A>C (p.Lys659Gln) c.1993A>C (p.Lys665Gln) | |
17 | g.42322331T>A | CA500061027 | STAT3 | c.2052A>T (p.Gly684=) c.*444A>T (n.*444A>T) c.2025A>T (p.Gly675=) n.1505A>T c.*440A>T (n.*440A>T) c.2148A>T (p.Gly716=) n.2252A>T c.2031A>T (p.Gly677=) c.1968A>T (p.Gly656=) c.2067A>T (p.Gly689=) n.2489A>T c.1956A>T (p.Gly652=) n.2469A>T n.2295A>T c.1758A>T (p.Gly586=) c.1974A>T (p.Gly658=) c.1992A>T (p.Gly664=) | |
17 | g.42322331T>C | CA500061026 | STAT3 | c.2052A>G (p.Gly684=) c.*444A>G (n.*444A>G) c.2025A>G (p.Gly675=) n.1505A>G c.*440A>G (n.*440A>G) c.2148A>G (p.Gly716=) n.2252A>G c.2031A>G (p.Gly677=) c.1968A>G (p.Gly656=) c.2067A>G (p.Gly689=) n.2489A>G c.1956A>G (p.Gly652=) n.2469A>G n.2295A>G c.1758A>G (p.Gly586=) c.1974A>G (p.Gly658=) c.1992A>G (p.Gly664=) | |
17 | g.42322331T>G | CA500061028 | STAT3 | c.2052A>C (p.Gly684=) c.*444A>C (n.*444A>C) c.2025A>C (p.Gly675=) n.1505A>C c.*440A>C (n.*440A>C) c.2148A>C (p.Gly716=) n.2252A>C c.2031A>C (p.Gly677=) c.1968A>C (p.Gly656=) c.2067A>C (p.Gly689=) n.2489A>C c.1956A>C (p.Gly652=) n.2469A>C n.2295A>C c.1758A>C (p.Gly586=) c.1974A>C (p.Gly658=) c.1992A>C (p.Gly664=) | |
17 | g.42322332C>A | CA399581452 | STAT3 | c.2051G>T (p.Gly684Val) c.*443G>T (n.*443G>T) c.2024G>T (p.Gly675Val) n.1504G>T c.*439G>T (n.*439G>T) c.2147G>T (p.Gly716Val) n.2251G>T c.2030G>T (p.Gly677Val) c.1967G>T (p.Gly656Val) c.2066G>T (p.Gly689Val) n.2488G>T c.1955G>T (p.Gly652Val) n.2468G>T n.2294G>T c.1757G>T (p.Gly586Val) c.1973G>T (p.Gly658Val) c.1991G>T (p.Gly664Val) | |
17 | g.42322332C>G | CA399581448 | STAT3 | c.2051G>C (p.Gly684Ala) c.*443G>C (n.*443G>C) c.2024G>C (p.Gly675Ala) n.1504G>C c.*439G>C (n.*439G>C) c.2147G>C (p.Gly716Ala) n.2251G>C c.2030G>C (p.Gly677Ala) c.1967G>C (p.Gly656Ala) c.2066G>C (p.Gly689Ala) n.2488G>C c.1955G>C (p.Gly652Ala) n.2468G>C n.2294G>C c.1757G>C (p.Gly586Ala) c.1973G>C (p.Gly658Ala) c.1991G>C (p.Gly664Ala) | dbSNP |
17 | g.42322332C>T | CA399581450 | STAT3 | c.2051G>A (p.Gly684Glu) c.*443G>A (n.*443G>A) c.2024G>A (p.Gly675Glu) n.1504G>A c.*439G>A (n.*439G>A) c.2147G>A (p.Gly716Glu) n.2251G>A c.2030G>A (p.Gly677Glu) c.1967G>A (p.Gly656Glu) c.2066G>A (p.Gly689Glu) n.2488G>A c.1955G>A (p.Gly652Glu) n.2468G>A n.2294G>A c.1757G>A (p.Gly586Glu) c.1973G>A (p.Gly658Glu) c.1991G>A (p.Gly664Glu) | dbSNP |
17 | g.42322333C>A | CA399581454 | STAT3 | c.2050G>T (p.Gly684Ter) c.*442G>T (n.*442G>T) c.2023G>T (p.Gly675Ter) n.1503G>T c.*438G>T (n.*438G>T) c.2146G>T (p.Gly716Ter) n.2250G>T c.2029G>T (p.Gly677Ter) c.1966G>T (p.Gly656Ter) c.2065G>T (p.Gly689Ter) n.2487G>T c.1954G>T (p.Gly652Ter) n.2467G>T n.2293G>T c.1756G>T (p.Gly586Ter) c.1972G>T (p.Gly658Ter) c.1990G>T (p.Gly664Ter) | |
17 | g.42322333C= | CA2260430712 | STAT3 | c.2050G= (p.Gly684=) c.*442G= (n.*442G=) c.2023G= (p.Gly675=) n.1503G= c.*438G= (n.*438G=) c.2146G= (p.Gly716=) n.2250G= c.2029G= (p.Gly677=) c.1966G= (p.Gly656=) c.2065G= (p.Gly689=) n.2487G= c.1954G= (p.Gly652=) n.2467G= n.2293G= c.1756G= (p.Gly586=) c.1972G= (p.Gly658=) c.1990G= (p.Gly664=) | |
17 | g.42322333C>G | CA8575174 | STAT3 | c.2050G>C (p.Gly684Arg) c.*442G>C (n.*442G>C) c.2023G>C (p.Gly675Arg) n.1503G>C c.*438G>C (n.*438G>C) c.2146G>C (p.Gly716Arg) n.2250G>C c.2029G>C (p.Gly677Arg) c.1966G>C (p.Gly656Arg) c.2065G>C (p.Gly689Arg) n.2487G>C c.1954G>C (p.Gly652Arg) n.2467G>C n.2293G>C c.1756G>C (p.Gly586Arg) c.1972G>C (p.Gly658Arg) c.1990G>C (p.Gly664Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42322333C>T | CA290732175 | STAT3 | c.2050G>A (p.Gly684Arg) c.*442G>A (n.*442G>A) c.2023G>A (p.Gly675Arg) n.1503G>A c.*438G>A (n.*438G>A) c.2146G>A (p.Gly716Arg) n.2250G>A c.2029G>A (p.Gly677Arg) c.1966G>A (p.Gly656Arg) c.2065G>A (p.Gly689Arg) n.2487G>A c.1954G>A (p.Gly652Arg) n.2467G>A n.2293G>A c.1756G>A (p.Gly586Arg) c.1972G>A (p.Gly658Arg) c.1990G>A (p.Gly664Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.42322334G>A | CA8575175 | STAT3 | c.2049C>T (p.Phe683=) c.*441C>T (n.*441C>T) c.2022C>T (p.Phe674=) n.1502C>T c.*437C>T (n.*437C>T) c.2145C>T (p.Phe715=) n.2249C>T c.2028C>T (p.Phe676=) c.1965C>T (p.Phe655=) c.2064C>T (p.Phe688=) n.2486C>T c.1953C>T (p.Phe651=) n.2466C>T n.2292C>T c.1755C>T (p.Phe585=) c.1971C>T (p.Phe657=) c.1989C>T (p.Phe663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42322334G>C | CA399581459 | STAT3 | c.2049C>G (p.Phe683Leu) c.*441C>G (n.*441C>G) c.2022C>G (p.Phe674Leu) n.1502C>G c.*437C>G (n.*437C>G) c.2145C>G (p.Phe715Leu) n.2249C>G c.2028C>G (p.Phe676Leu) c.1965C>G (p.Phe655Leu) c.2064C>G (p.Phe688Leu) n.2486C>G c.1953C>G (p.Phe651Leu) n.2466C>G n.2292C>G c.1755C>G (p.Phe585Leu) c.1971C>G (p.Phe657Leu) c.1989C>G (p.Phe663Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42322334G= | CA2260430713 | STAT3 | c.2049C= (p.Phe683=) c.*441C= (n.*441C=) c.2022C= (p.Phe674=) n.1502C= c.*437C= (n.*437C=) c.2145C= (p.Phe715=) n.2249C= c.2028C= (p.Phe676=) c.1965C= (p.Phe655=) c.2064C= (p.Phe688=) n.2486C= c.1953C= (p.Phe651=) n.2466C= n.2292C= c.1755C= (p.Phe585=) c.1971C= (p.Phe657=) c.1989C= (p.Phe663=) | |
17 | g.42322334G>T | CA399581457 | STAT3 | c.2049C>A (p.Phe683Leu) c.*441C>A (n.*441C>A) c.2022C>A (p.Phe674Leu) n.1502C>A c.*437C>A (n.*437C>A) c.2145C>A (p.Phe715Leu) n.2249C>A c.2028C>A (p.Phe676Leu) c.1965C>A (p.Phe655Leu) c.2064C>A (p.Phe688Leu) n.2486C>A c.1953C>A (p.Phe651Leu) n.2466C>A n.2292C>A c.1755C>A (p.Phe585Leu) c.1971C>A (p.Phe657Leu) c.1989C>A (p.Phe663Leu) | dbSNP COSMIC |
17 | g.42322335A>C | CA399581461 | STAT3 | c.2048T>G (p.Phe683Cys) c.*440T>G (n.*440T>G) c.2021T>G (p.Phe674Cys) n.1501T>G c.*436T>G (n.*436T>G) c.2144T>G (p.Phe715Cys) n.2248T>G c.2027T>G (p.Phe676Cys) c.1964T>G (p.Phe655Cys) c.2063T>G (p.Phe688Cys) n.2485T>G c.1952T>G (p.Phe651Cys) n.2465T>G n.2291T>G c.1754T>G (p.Phe585Cys) c.1970T>G (p.Phe657Cys) c.1988T>G (p.Phe663Cys) | dbSNP |
17 | g.42322335A>G | CA399581463 | STAT3 | c.2048T>C (p.Phe683Ser) c.*440T>C (n.*440T>C) c.2021T>C (p.Phe674Ser) n.1501T>C c.*436T>C (n.*436T>C) c.2144T>C (p.Phe715Ser) n.2248T>C c.2027T>C (p.Phe676Ser) c.1964T>C (p.Phe655Ser) c.2063T>C (p.Phe688Ser) n.2485T>C c.1952T>C (p.Phe651Ser) n.2465T>C n.2291T>C c.1754T>C (p.Phe585Ser) c.1970T>C (p.Phe657Ser) c.1988T>C (p.Phe663Ser) | dbSNP |
17 | g.42322335A>T | CA399581465 | STAT3 | c.2048T>A (p.Phe683Tyr) c.*440T>A (n.*440T>A) c.2021T>A (p.Phe674Tyr) n.1501T>A c.*436T>A (n.*436T>A) c.2144T>A (p.Phe715Tyr) n.2248T>A c.2027T>A (p.Phe676Tyr) c.1964T>A (p.Phe655Tyr) c.2063T>A (p.Phe688Tyr) n.2485T>A c.1952T>A (p.Phe651Tyr) n.2465T>A n.2291T>A c.1754T>A (p.Phe585Tyr) c.1970T>A (p.Phe657Tyr) c.1988T>A (p.Phe663Tyr) | dbSNP |
17 | g.42322336A>C | CA399581466 | STAT3 | c.2047T>G (p.Phe683Val) c.*439T>G (n.*439T>G) c.2020T>G (p.Phe674Val) n.1500T>G c.*435T>G (n.*435T>G) c.2143T>G (p.Phe715Val) n.2247T>G c.2026T>G (p.Phe676Val) c.1963T>G (p.Phe655Val) c.2062T>G (p.Phe688Val) n.2484T>G c.1951T>G (p.Phe651Val) n.2464T>G n.2290T>G c.1753T>G (p.Phe585Val) c.1969T>G (p.Phe657Val) c.1987T>G (p.Phe663Val) | dbSNP |
17 | g.42322336A>G | CA399581468 | STAT3 | c.2047T>C (p.Phe683Leu) c.*439T>C (n.*439T>C) c.2020T>C (p.Phe674Leu) n.1500T>C c.*435T>C (n.*435T>C) c.2143T>C (p.Phe715Leu) n.2247T>C c.2026T>C (p.Phe676Leu) c.1963T>C (p.Phe655Leu) c.2062T>C (p.Phe688Leu) n.2484T>C c.1951T>C (p.Phe651Leu) n.2464T>C n.2290T>C c.1753T>C (p.Phe585Leu) c.1969T>C (p.Phe657Leu) c.1987T>C (p.Phe663Leu) | dbSNP |
17 | g.42322336A>T | CA399581470 | STAT3 | c.2047T>A (p.Phe683Ile) c.*439T>A (n.*439T>A) c.2020T>A (p.Phe674Ile) n.1500T>A c.*435T>A (n.*435T>A) c.2143T>A (p.Phe715Ile) n.2247T>A c.2026T>A (p.Phe676Ile) c.1963T>A (p.Phe655Ile) c.2062T>A (p.Phe688Ile) n.2484T>A c.1951T>A (p.Phe651Ile) n.2464T>A n.2290T>A c.1753T>A (p.Phe585Ile) c.1969T>A (p.Phe657Ile) c.1987T>A (p.Phe663Ile) | dbSNP |
17 | g.42322337T>A | CA500061030 | STAT3 | c.2046A>T (p.Ala682=) c.*438A>T (n.*438A>T) c.2019A>T (p.Ala673=) n.1499A>T c.*434A>T (n.*434A>T) c.2142A>T (p.Ala714=) n.2246A>T c.2025A>T (p.Ala675=) c.1962A>T (p.Ala654=) c.2061A>T (p.Ala687=) n.2483A>T c.1950A>T (p.Ala650=) n.2463A>T n.2289A>T c.1752A>T (p.Ala584=) c.1968A>T (p.Ala656=) c.1986A>T (p.Ala662=) | dbSNP |
17 | g.42322337T>C | CA500061031 | STAT3 | c.2046A>G (p.Ala682=) c.*438A>G (n.*438A>G) c.2019A>G (p.Ala673=) n.1499A>G c.*434A>G (n.*434A>G) c.2142A>G (p.Ala714=) n.2246A>G c.2025A>G (p.Ala675=) c.1962A>G (p.Ala654=) c.2061A>G (p.Ala687=) n.2483A>G c.1950A>G (p.Ala650=) n.2463A>G n.2289A>G c.1752A>G (p.Ala584=) c.1968A>G (p.Ala656=) c.1986A>G (p.Ala662=) | dbSNP |
17 | g.42322337T>G | CA500061029 | STAT3 | c.2046A>C (p.Ala682=) c.*438A>C (n.*438A>C) c.2019A>C (p.Ala673=) n.1499A>C c.*434A>C (n.*434A>C) c.2142A>C (p.Ala714=) n.2246A>C c.2025A>C (p.Ala675=) c.1962A>C (p.Ala654=) c.2061A>C (p.Ala687=) n.2483A>C c.1950A>C (p.Ala650=) n.2463A>C n.2289A>C c.1752A>C (p.Ala584=) c.1968A>C (p.Ala656=) c.1986A>C (p.Ala662=) | |
17 | g.42322337T= | CA2260430714 | STAT3 | c.2046A= (p.Ala682=) c.*438A= (n.*438A=) c.2019A= (p.Ala673=) n.1499A= c.*434A= (n.*434A=) c.2142A= (p.Ala714=) n.2246A= c.2025A= (p.Ala675=) c.1962A= (p.Ala654=) c.2061A= (p.Ala687=) n.2483A= c.1950A= (p.Ala650=) n.2463A= n.2289A= c.1752A= (p.Ala584=) c.1968A= (p.Ala656=) c.1986A= (p.Ala662=) | |
17 | g.42322338G>A | CA399581472 | STAT3 | c.2045C>T (p.Ala682Val) c.*437C>T (n.*437C>T) c.2018C>T (p.Ala673Val) n.1498C>T c.*433C>T (n.*433C>T) c.2141C>T (p.Ala714Val) n.2245C>T c.2024C>T (p.Ala675Val) c.1961C>T (p.Ala654Val) c.2060C>T (p.Ala687Val) n.2482C>T c.1949C>T (p.Ala650Val) n.2462C>T n.2288C>T c.1751C>T (p.Ala584Val) c.1967C>T (p.Ala656Val) c.1985C>T (p.Ala662Val) | gnomAD v4 |
17 | g.42322338G>C | CA399581477 | STAT3 | c.2045C>G (p.Ala682Gly) c.*437C>G (n.*437C>G) c.2018C>G (p.Ala673Gly) n.1498C>G c.*433C>G (n.*433C>G) c.2141C>G (p.Ala714Gly) n.2245C>G c.2024C>G (p.Ala675Gly) c.1961C>G (p.Ala654Gly) c.2060C>G (p.Ala687Gly) n.2482C>G c.1949C>G (p.Ala650Gly) n.2462C>G n.2288C>G c.1751C>G (p.Ala584Gly) c.1967C>G (p.Ala656Gly) c.1985C>G (p.Ala662Gly) | |
17 | g.42322338G>T | CA399581475 | STAT3 | c.2045C>A (p.Ala682Glu) c.*437C>A (n.*437C>A) c.2018C>A (p.Ala673Glu) n.1498C>A c.*433C>A (n.*433C>A) c.2141C>A (p.Ala714Glu) n.2245C>A c.2024C>A (p.Ala675Glu) c.1961C>A (p.Ala654Glu) c.2060C>A (p.Ala687Glu) n.2482C>A c.1949C>A (p.Ala650Glu) n.2462C>A n.2288C>A c.1751C>A (p.Ala584Glu) c.1967C>A (p.Ala656Glu) c.1985C>A (p.Ala662Glu) | |
17 | g.42322339C>A | CA399581480 | STAT3 | c.2044G>T (p.Ala682Ser) c.*436G>T (n.*436G>T) c.2017G>T (p.Ala673Ser) n.1497G>T c.*432G>T (n.*432G>T) c.2140G>T (p.Ala714Ser) n.2244G>T c.2023G>T (p.Ala675Ser) c.1960G>T (p.Ala654Ser) c.2059G>T (p.Ala687Ser) n.2481G>T c.1948G>T (p.Ala650Ser) n.2461G>T n.2287G>T c.1750G>T (p.Ala584Ser) c.1966G>T (p.Ala656Ser) c.1984G>T (p.Ala662Ser) | dbSNP |
17 | g.42322339C>G | CA399581483 | STAT3 | c.2044G>C (p.Ala682Pro) c.*436G>C (n.*436G>C) c.2017G>C (p.Ala673Pro) n.1497G>C c.*432G>C (n.*432G>C) c.2140G>C (p.Ala714Pro) n.2244G>C c.2023G>C (p.Ala675Pro) c.1960G>C (p.Ala654Pro) c.2059G>C (p.Ala687Pro) n.2481G>C c.1948G>C (p.Ala650Pro) n.2461G>C n.2287G>C c.1750G>C (p.Ala584Pro) c.1966G>C (p.Ala656Pro) c.1984G>C (p.Ala662Pro) | |
17 | g.42322339C>T | CA399581486 | STAT3 | c.2044G>A (p.Ala682Thr) c.*436G>A (n.*436G>A) c.2017G>A (p.Ala673Thr) n.1497G>A c.*432G>A (n.*432G>A) c.2140G>A (p.Ala714Thr) n.2244G>A c.2023G>A (p.Ala675Thr) c.1960G>A (p.Ala654Thr) c.2059G>A (p.Ala687Thr) n.2481G>A c.1948G>A (p.Ala650Thr) n.2461G>A n.2287G>A c.1750G>A (p.Ala584Thr) c.1966G>A (p.Ala656Thr) c.1984G>A (p.Ala662Thr) | dbSNP |
17 | g.42322340C>A | CA399581489 | STAT3 | c.2043G>T (p.Glu681Asp) c.*435G>T (n.*435G>T) c.2016G>T (p.Glu672Asp) n.1496G>T c.*431G>T (n.*431G>T) c.2139G>T (p.Glu713Asp) n.2243G>T c.2022G>T (p.Glu674Asp) c.1959G>T (p.Glu653Asp) c.2058G>T (p.Glu686Asp) n.2480G>T c.1947G>T (p.Glu649Asp) n.2460G>T n.2286G>T c.1749G>T (p.Glu583Asp) c.1965G>T (p.Glu655Asp) c.1983G>T (p.Glu661Asp) | |
17 | g.42322340C>G | CA399581493 | STAT3 | c.2043G>C (p.Glu681Asp) c.*435G>C (n.*435G>C) c.2016G>C (p.Glu672Asp) n.1496G>C c.*431G>C (n.*431G>C) c.2139G>C (p.Glu713Asp) n.2243G>C c.2022G>C (p.Glu674Asp) c.1959G>C (p.Glu653Asp) c.2058G>C (p.Glu686Asp) n.2480G>C c.1947G>C (p.Glu649Asp) n.2460G>C n.2286G>C c.1749G>C (p.Glu583Asp) c.1965G>C (p.Glu655Asp) c.1983G>C (p.Glu661Asp) | |
17 | g.42322340C>T | CA500061032 | STAT3 | c.2043G>A (p.Glu681=) c.*435G>A (n.*435G>A) c.2016G>A (p.Glu672=) n.1496G>A c.*431G>A (n.*431G>A) c.2139G>A (p.Glu713=) n.2243G>A c.2022G>A (p.Glu674=) c.1959G>A (p.Glu653=) c.2058G>A (p.Glu686=) n.2480G>A c.1947G>A (p.Glu649=) n.2460G>A n.2286G>A c.1749G>A (p.Glu583=) c.1965G>A (p.Glu655=) c.1983G>A (p.Glu661=) | ClinVar dbSNP gnomAD v4 |
17 | g.42322341T>A | CA399581495 | STAT3 | c.2042A>T (p.Glu681Val) c.*434A>T (n.*434A>T) c.2015A>T (p.Glu672Val) n.1495A>T c.*430A>T (n.*430A>T) c.2138A>T (p.Glu713Val) n.2242A>T c.2021A>T (p.Glu674Val) c.1958A>T (p.Glu653Val) c.2057A>T (p.Glu686Val) n.2479A>T c.1946A>T (p.Glu649Val) n.2459A>T n.2285A>T c.1748A>T (p.Glu583Val) c.1964A>T (p.Glu655Val) c.1982A>T (p.Glu661Val) | |
17 | g.42322341T>C | CA399581498 | STAT3 | c.2042A>G (p.Glu681Gly) c.*434A>G (n.*434A>G) c.2015A>G (p.Glu672Gly) n.1495A>G c.*430A>G (n.*430A>G) c.2138A>G (p.Glu713Gly) n.2242A>G c.2021A>G (p.Glu674Gly) c.1958A>G (p.Glu653Gly) c.2057A>G (p.Glu686Gly) n.2479A>G c.1946A>G (p.Glu649Gly) n.2459A>G n.2285A>G c.1748A>G (p.Glu583Gly) c.1964A>G (p.Glu655Gly) c.1982A>G (p.Glu661Gly) | |
17 | g.42322341T>G | CA399581507 | STAT3 | c.2042A>C (p.Glu681Ala) c.*434A>C (n.*434A>C) c.2015A>C (p.Glu672Ala) n.1495A>C c.*430A>C (n.*430A>C) c.2138A>C (p.Glu713Ala) n.2242A>C c.2021A>C (p.Glu674Ala) c.1958A>C (p.Glu653Ala) c.2057A>C (p.Glu686Ala) n.2479A>C c.1946A>C (p.Glu649Ala) n.2459A>C n.2285A>C c.1748A>C (p.Glu583Ala) c.1964A>C (p.Glu655Ala) c.1982A>C (p.Glu661Ala) | |
17 | g.42322342C>A | CA399581509 | STAT3 | c.2041G>T (p.Glu681Ter) c.*433G>T (n.*433G>T) c.2014G>T (p.Glu672Ter) n.1494G>T c.*429G>T (n.*429G>T) c.2137G>T (p.Glu713Ter) n.2241G>T c.2020G>T (p.Glu674Ter) c.1957G>T (p.Glu653Ter) c.2056G>T (p.Glu686Ter) n.2478G>T c.1945G>T (p.Glu649Ter) n.2458G>T n.2284G>T c.1747G>T (p.Glu583Ter) c.1963G>T (p.Glu655Ter) c.1981G>T (p.Glu661Ter) | dbSNP |
17 | g.42322342C>G | CA399581515 | STAT3 | c.2041G>C (p.Glu681Gln) c.*433G>C (n.*433G>C) c.2014G>C (p.Glu672Gln) n.1494G>C c.*429G>C (n.*429G>C) c.2137G>C (p.Glu713Gln) n.2241G>C c.2020G>C (p.Glu674Gln) c.1957G>C (p.Glu653Gln) c.2056G>C (p.Glu686Gln) n.2478G>C c.1945G>C (p.Glu649Gln) n.2458G>C n.2284G>C c.1747G>C (p.Glu583Gln) c.1963G>C (p.Glu655Gln) c.1981G>C (p.Glu661Gln) | dbSNP |
17 | g.42322342C>T | CA399581517 | STAT3 | c.2041G>A (p.Glu681Lys) c.*433G>A (n.*433G>A) c.2014G>A (p.Glu672Lys) n.1494G>A c.*429G>A (n.*429G>A) c.2137G>A (p.Glu713Lys) n.2241G>A c.2020G>A (p.Glu674Lys) c.1957G>A (p.Glu653Lys) c.2056G>A (p.Glu686Lys) n.2478G>A c.1945G>A (p.Glu649Lys) n.2458G>A n.2284G>A c.1747G>A (p.Glu583Lys) c.1963G>A (p.Glu655Lys) c.1981G>A (p.Glu661Lys) | dbSNP |
17 | g.42322343C>A | CA399581518 | STAT3 | c.2040G>T (p.Glu680Asp) c.*432G>T (n.*432G>T) c.2013G>T (p.Glu671Asp) n.1493G>T c.*428G>T (n.*428G>T) c.2136G>T (p.Glu712Asp) n.2240G>T c.2019G>T (p.Glu673Asp) c.1956G>T (p.Glu652Asp) c.2055G>T (p.Glu685Asp) n.2477G>T c.1944G>T (p.Glu648Asp) n.2457G>T n.2283G>T c.1746G>T (p.Glu582Asp) c.1962G>T (p.Glu654Asp) c.1980G>T (p.Glu660Asp) | |
17 | g.42322343C>G | CA399581519 | STAT3 | c.2040G>C (p.Glu680Asp) c.*432G>C (n.*432G>C) c.2013G>C (p.Glu671Asp) n.1493G>C c.*428G>C (n.*428G>C) c.2136G>C (p.Glu712Asp) n.2240G>C c.2019G>C (p.Glu673Asp) c.1956G>C (p.Glu652Asp) c.2055G>C (p.Glu685Asp) n.2477G>C c.1944G>C (p.Glu648Asp) n.2457G>C n.2283G>C c.1746G>C (p.Glu582Asp) c.1962G>C (p.Glu654Asp) c.1980G>C (p.Glu660Asp) | |
17 | g.42322343C>T | CA500061033 | STAT3 | c.2040G>A (p.Glu680=) c.*432G>A (n.*432G>A) c.2013G>A (p.Glu671=) n.1493G>A c.*428G>A (n.*428G>A) c.2136G>A (p.Glu712=) n.2240G>A c.2019G>A (p.Glu673=) c.1956G>A (p.Glu652=) c.2055G>A (p.Glu685=) n.2477G>A c.1944G>A (p.Glu648=) n.2457G>A n.2283G>A c.1746G>A (p.Glu582=) c.1962G>A (p.Glu654=) c.1980G>A (p.Glu660=) | dbSNP |
17 | g.42322344T>A | CA399581520 | STAT3 | c.2039A>T (p.Glu680Val) c.*431A>T (n.*431A>T) c.2012A>T (p.Glu671Val) n.1492A>T c.*427A>T (n.*427A>T) c.2135A>T (p.Glu712Val) n.2239A>T c.2018A>T (p.Glu673Val) c.1955A>T (p.Glu652Val) c.2054A>T (p.Glu685Val) n.2476A>T c.1943A>T (p.Glu648Val) n.2456A>T n.2282A>T c.1745A>T (p.Glu582Val) c.1961A>T (p.Glu654Val) c.1979A>T (p.Glu660Val) | |
17 | g.42322344T>C | CA399581522 | STAT3 | c.2039A>G (p.Glu680Gly) c.*431A>G (n.*431A>G) c.2012A>G (p.Glu671Gly) n.1492A>G c.*427A>G (n.*427A>G) c.2135A>G (p.Glu712Gly) n.2239A>G c.2018A>G (p.Glu673Gly) c.1955A>G (p.Glu652Gly) c.2054A>G (p.Glu685Gly) n.2476A>G c.1943A>G (p.Glu648Gly) n.2456A>G n.2282A>G c.1745A>G (p.Glu582Gly) c.1961A>G (p.Glu654Gly) c.1979A>G (p.Glu660Gly) | dbSNP |
17 | g.42322344T>G | CA399581523 | STAT3 | c.2039A>C (p.Glu680Ala) c.*431A>C (n.*431A>C) c.2012A>C (p.Glu671Ala) n.1492A>C c.*427A>C (n.*427A>C) c.2135A>C (p.Glu712Ala) n.2239A>C c.2018A>C (p.Glu673Ala) c.1955A>C (p.Glu652Ala) c.2054A>C (p.Glu685Ala) n.2476A>C c.1943A>C (p.Glu648Ala) n.2456A>C n.2282A>C c.1745A>C (p.Glu582Ala) c.1961A>C (p.Glu654Ala) c.1979A>C (p.Glu660Ala) | |
17 | g.42322345C>A | CA399581524 | STAT3 | c.2038G>T (p.Glu680Ter) c.*430G>T (n.*430G>T) c.2011G>T (p.Glu671Ter) n.1491G>T c.*426G>T (n.*426G>T) c.2134G>T (p.Glu712Ter) n.2238G>T c.2017G>T (p.Glu673Ter) c.1954G>T (p.Glu652Ter) c.2053G>T (p.Glu685Ter) n.2475G>T c.1942G>T (p.Glu648Ter) n.2455G>T n.2281G>T c.1744G>T (p.Glu582Ter) c.1960G>T (p.Glu654Ter) c.1978G>T (p.Glu660Ter) | |
17 | g.42322345C>G | CA399581526 | STAT3 | c.2038G>C (p.Glu680Gln) c.*430G>C (n.*430G>C) c.2011G>C (p.Glu671Gln) n.1491G>C c.*426G>C (n.*426G>C) c.2134G>C (p.Glu712Gln) n.2238G>C c.2017G>C (p.Glu673Gln) c.1954G>C (p.Glu652Gln) c.2053G>C (p.Glu685Gln) n.2475G>C c.1942G>C (p.Glu648Gln) n.2455G>C n.2281G>C c.1744G>C (p.Glu582Gln) c.1960G>C (p.Glu654Gln) c.1978G>C (p.Glu660Gln) | dbSNP |
17 | g.42322345C>T | CA399581528 | STAT3 | c.2038G>A (p.Glu680Lys) c.*430G>A (n.*430G>A) c.2011G>A (p.Glu671Lys) n.1491G>A c.*426G>A (n.*426G>A) c.2134G>A (p.Glu712Lys) n.2238G>A c.2017G>A (p.Glu673Lys) c.1954G>A (p.Glu652Lys) c.2053G>A (p.Glu685Lys) n.2475G>A c.1942G>A (p.Glu648Lys) n.2455G>A n.2281G>A c.1744G>A (p.Glu582Lys) c.1960G>A (p.Glu654Lys) c.1978G>A (p.Glu660Lys) | dbSNP |
17 | g.42322346C>A | CA399581532 | STAT3 | c.2037G>T (p.Lys679Asn) c.*429G>T (n.*429G>T) c.2010G>T (p.Lys670Asn) n.1490G>T c.*425G>T (n.*425G>T) c.2133G>T (p.Lys711Asn) n.2237G>T c.2016G>T (p.Lys672Asn) c.1953G>T (p.Lys651Asn) c.2052G>T (p.Lys684Asn) n.2474G>T c.1941G>T (p.Lys647Asn) n.2454G>T n.2280G>T c.1743G>T (p.Lys581Asn) c.1959G>T (p.Lys653Asn) c.1977G>T (p.Lys659Asn) | |
17 | g.42322346C>G | CA399581530 | STAT3 | c.2037G>C (p.Lys679Asn) c.*429G>C (n.*429G>C) c.2010G>C (p.Lys670Asn) n.1490G>C c.*425G>C (n.*425G>C) c.2133G>C (p.Lys711Asn) n.2237G>C c.2016G>C (p.Lys672Asn) c.1953G>C (p.Lys651Asn) c.2052G>C (p.Lys684Asn) n.2474G>C c.1941G>C (p.Lys647Asn) n.2454G>C n.2280G>C c.1743G>C (p.Lys581Asn) c.1959G>C (p.Lys653Asn) c.1977G>C (p.Lys659Asn) | |
17 | g.42322346C>T | CA500061034 | STAT3 | c.2037G>A (p.Lys679=) c.*429G>A (n.*429G>A) c.2010G>A (p.Lys670=) n.1490G>A c.*425G>A (n.*425G>A) c.2133G>A (p.Lys711=) n.2237G>A c.2016G>A (p.Lys672=) c.1953G>A (p.Lys651=) c.2052G>A (p.Lys684=) n.2474G>A c.1941G>A (p.Lys647=) n.2454G>A n.2280G>A c.1743G>A (p.Lys581=) c.1959G>A (p.Lys653=) c.1977G>A (p.Lys659=) | dbSNP |
17 | g.42322347T>A | CA399581533 | STAT3 | c.2036A>T (p.Lys679Met) c.*428A>T (n.*428A>T) c.2009A>T (p.Lys670Met) n.1489A>T c.*424A>T (n.*424A>T) c.2132A>T (p.Lys711Met) n.2236A>T c.2015A>T (p.Lys672Met) c.1952A>T (p.Lys651Met) c.2051A>T (p.Lys684Met) n.2473A>T c.1940A>T (p.Lys647Met) n.2453A>T n.2279A>T c.1742A>T (p.Lys581Met) c.1958A>T (p.Lys653Met) c.1976A>T (p.Lys659Met) | |
17 | g.42322347T>C | CA399581535 | STAT3 | c.2036A>G (p.Lys679Arg) c.*428A>G (n.*428A>G) c.2009A>G (p.Lys670Arg) n.1489A>G c.*424A>G (n.*424A>G) c.2132A>G (p.Lys711Arg) n.2236A>G c.2015A>G (p.Lys672Arg) c.1952A>G (p.Lys651Arg) c.2051A>G (p.Lys684Arg) n.2473A>G c.1940A>G (p.Lys647Arg) n.2453A>G n.2279A>G c.1742A>G (p.Lys581Arg) c.1958A>G (p.Lys653Arg) c.1976A>G (p.Lys659Arg) | |
17 | g.42322347T>G | CA399581537 | STAT3 | c.2036A>C (p.Lys679Thr) c.*428A>C (n.*428A>C) c.2009A>C (p.Lys670Thr) n.1489A>C c.*424A>C (n.*424A>C) c.2132A>C (p.Lys711Thr) n.2236A>C c.2015A>C (p.Lys672Thr) c.1952A>C (p.Lys651Thr) c.2051A>C (p.Lys684Thr) n.2473A>C c.1940A>C (p.Lys647Thr) n.2453A>C n.2279A>C c.1742A>C (p.Lys581Thr) c.1958A>C (p.Lys653Thr) c.1976A>C (p.Lys659Thr) | |
17 | g.42322348T>A | CA399581541 | STAT3 | c.2035A>T (p.Lys679Ter) c.*427A>T (n.*427A>T) c.2008A>T (p.Lys670Ter) n.1488A>T c.*423A>T (n.*423A>T) c.2131A>T (p.Lys711Ter) n.2235A>T c.2014A>T (p.Lys672Ter) c.1951A>T (p.Lys651Ter) c.2050A>T (p.Lys684Ter) n.2472A>T c.1939A>T (p.Lys647Ter) n.2452A>T n.2278A>T c.1741A>T (p.Lys581Ter) c.1957A>T (p.Lys653Ter) c.1975A>T (p.Lys659Ter) | |
17 | g.42322348T>C | CA399581543 | STAT3 | c.2035A>G (p.Lys679Glu) c.*427A>G (n.*427A>G) c.2008A>G (p.Lys670Glu) n.1488A>G c.*423A>G (n.*423A>G) c.2131A>G (p.Lys711Glu) n.2235A>G c.2014A>G (p.Lys672Glu) c.1951A>G (p.Lys651Glu) c.2050A>G (p.Lys684Glu) n.2472A>G c.1939A>G (p.Lys647Glu) n.2452A>G n.2278A>G c.1741A>G (p.Lys581Glu) c.1957A>G (p.Lys653Glu) c.1975A>G (p.Lys659Glu) | |
17 | g.42322348T>G | CA399581545 | STAT3 | c.2035A>C (p.Lys679Gln) c.*427A>C (n.*427A>C) c.2008A>C (p.Lys670Gln) n.1488A>C c.*423A>C (n.*423A>C) c.2131A>C (p.Lys711Gln) n.2235A>C c.2014A>C (p.Lys672Gln) c.1951A>C (p.Lys651Gln) c.2050A>C (p.Lys684Gln) n.2472A>C c.1939A>C (p.Lys647Gln) n.2452A>C n.2278A>C c.1741A>C (p.Lys581Gln) c.1957A>C (p.Lys653Gln) c.1975A>C (p.Lys659Gln) | |
17 | g.42322349G>A | CA500061035 | STAT3 | c.2034C>T (p.Pro678=) c.*426C>T (n.*426C>T) c.2007C>T (p.Pro669=) n.1487C>T c.*422C>T (n.*422C>T) c.2130C>T (p.Pro710=) n.2234C>T c.2013C>T (p.Pro671=) c.1950C>T (p.Pro650=) c.2049C>T (p.Pro683=) n.2471C>T c.1938C>T (p.Pro646=) n.2451C>T n.2277C>T c.1740C>T (p.Pro580=) c.1956C>T (p.Pro652=) c.1974C>T (p.Pro658=) | |
17 | g.42322349G>C | CA500061036 | STAT3 | c.2034C>G (p.Pro678=) c.*426C>G (n.*426C>G) c.2007C>G (p.Pro669=) n.1487C>G c.*422C>G (n.*422C>G) c.2130C>G (p.Pro710=) n.2234C>G c.2013C>G (p.Pro671=) c.1950C>G (p.Pro650=) c.2049C>G (p.Pro683=) n.2471C>G c.1938C>G (p.Pro646=) n.2451C>G n.2277C>G c.1740C>G (p.Pro580=) c.1956C>G (p.Pro652=) c.1974C>G (p.Pro658=) | ClinVar dbSNP gnomAD v4 |
17 | g.42322349G= | CA2260430715 | STAT3 | c.2034C= (p.Pro678=) c.*426C= (n.*426C=) c.2007C= (p.Pro669=) n.1487C= c.*422C= (n.*422C=) c.2130C= (p.Pro710=) n.2234C= c.2013C= (p.Pro671=) c.1950C= (p.Pro650=) c.2049C= (p.Pro683=) n.2471C= c.1938C= (p.Pro646=) n.2451C= n.2277C= c.1740C= (p.Pro580=) c.1956C= (p.Pro652=) c.1974C= (p.Pro658=) | |
17 | g.42322349G>T | CA500061037 | STAT3 | c.2034C>A (p.Pro678=) c.*426C>A (n.*426C>A) c.2007C>A (p.Pro669=) n.1487C>A c.*422C>A (n.*422C>A) c.2130C>A (p.Pro710=) n.2234C>A c.2013C>A (p.Pro671=) c.1950C>A (p.Pro650=) c.2049C>A (p.Pro683=) n.2471C>A c.1938C>A (p.Pro646=) n.2451C>A n.2277C>A c.1740C>A (p.Pro580=) c.1956C>A (p.Pro652=) c.1974C>A (p.Pro658=) | dbSNP |
17 | g.42322350G>A | CA399581546 | STAT3 | c.2033C>T (p.Pro678Leu) c.*425C>T (n.*425C>T) c.2006C>T (p.Pro669Leu) n.1486C>T c.*421C>T (n.*421C>T) c.2129C>T (p.Pro710Leu) n.2233C>T c.2012C>T (p.Pro671Leu) c.1949C>T (p.Pro650Leu) c.2048C>T (p.Pro683Leu) n.2470C>T c.1937C>T (p.Pro646Leu) n.2450C>T n.2276C>T c.1739C>T (p.Pro580Leu) c.1955C>T (p.Pro652Leu) c.1973C>T (p.Pro658Leu) | |
17 | g.42322350G>C | CA399581549 | STAT3 | c.2033C>G (p.Pro678Arg) c.*425C>G (n.*425C>G) c.2006C>G (p.Pro669Arg) n.1486C>G c.*421C>G (n.*421C>G) c.2129C>G (p.Pro710Arg) n.2233C>G c.2012C>G (p.Pro671Arg) c.1949C>G (p.Pro650Arg) c.2048C>G (p.Pro683Arg) n.2470C>G c.1937C>G (p.Pro646Arg) n.2450C>G n.2276C>G c.1739C>G (p.Pro580Arg) c.1955C>G (p.Pro652Arg) c.1973C>G (p.Pro658Arg) | dbSNP |
17 | g.42322350G>T | CA399581548 | STAT3 | c.2033C>A (p.Pro678His) c.*425C>A (n.*425C>A) c.2006C>A (p.Pro669His) n.1486C>A c.*421C>A (n.*421C>A) c.2129C>A (p.Pro710His) n.2233C>A c.2012C>A (p.Pro671His) c.1949C>A (p.Pro650His) c.2048C>A (p.Pro683His) n.2470C>A c.1937C>A (p.Pro646His) n.2450C>A n.2276C>A c.1739C>A (p.Pro580His) c.1955C>A (p.Pro652His) c.1973C>A (p.Pro658His) | ClinVar dbSNP |
17 | g.42322351G>A | CA399581551 | STAT3 | c.2032C>T (p.Pro678Ser) c.*424C>T (n.*424C>T) c.2005C>T (p.Pro669Ser) n.1485C>T c.*420C>T (n.*420C>T) c.2128C>T (p.Pro710Ser) n.2232C>T c.2011C>T (p.Pro671Ser) c.1948C>T (p.Pro650Ser) c.2047C>T (p.Pro683Ser) n.2469C>T c.1936C>T (p.Pro646Ser) n.2449C>T n.2275C>T c.1738C>T (p.Pro580Ser) c.1954C>T (p.Pro652Ser) c.1972C>T (p.Pro658Ser) | |
17 | g.42322351G>C | CA399581552 | STAT3 | c.2032C>G (p.Pro678Ala) c.*424C>G (n.*424C>G) c.2005C>G (p.Pro669Ala) n.1485C>G c.*420C>G (n.*420C>G) c.2128C>G (p.Pro710Ala) n.2232C>G c.2011C>G (p.Pro671Ala) c.1948C>G (p.Pro650Ala) c.2047C>G (p.Pro683Ala) n.2469C>G c.1936C>G (p.Pro646Ala) n.2449C>G n.2275C>G c.1738C>G (p.Pro580Ala) c.1954C>G (p.Pro652Ala) c.1972C>G (p.Pro658Ala) | gnomAD v4 |
17 | g.42322351G>T | CA399581554 | STAT3 | c.2032C>A (p.Pro678Thr) c.*424C>A (n.*424C>A) c.2005C>A (p.Pro669Thr) n.1485C>A c.*420C>A (n.*420C>A) c.2128C>A (p.Pro710Thr) n.2232C>A c.2011C>A (p.Pro671Thr) c.1948C>A (p.Pro650Thr) c.2047C>A (p.Pro683Thr) n.2469C>A c.1936C>A (p.Pro646Thr) n.2449C>A n.2275C>A c.1738C>A (p.Pro580Thr) c.1954C>A (p.Pro652Thr) c.1972C>A (p.Pro658Thr) | gnomAD v4 |
17 | g.42322352A>C | CA399581556 | STAT3 | c.2031T>G (p.Ile677Met) c.*423T>G (n.*423T>G) c.2004T>G (p.Ile668Met) n.1484T>G c.*419T>G (n.*419T>G) c.2127T>G (p.Ile709Met) n.2231T>G c.2010T>G (p.Ile670Met) c.1947T>G (p.Ile649Met) c.2046T>G (p.Ile682Met) n.2468T>G c.1935T>G (p.Ile645Met) n.2448T>G n.2274T>G c.1737T>G (p.Ile579Met) c.1953T>G (p.Ile651Met) c.1971T>G (p.Ile657Met) | |
17 | g.42322352A>G | CA500061039 | STAT3 | c.2031T>C (p.Ile677=) c.*423T>C (n.*423T>C) c.2004T>C (p.Ile668=) n.1484T>C c.*419T>C (n.*419T>C) c.2127T>C (p.Ile709=) n.2231T>C c.2010T>C (p.Ile670=) c.1947T>C (p.Ile649=) c.2046T>C (p.Ile682=) n.2468T>C c.1935T>C (p.Ile645=) n.2448T>C n.2274T>C c.1737T>C (p.Ile579=) c.1953T>C (p.Ile651=) c.1971T>C (p.Ile657=) | |
17 | g.42322352A>T | CA500061038 | STAT3 | c.2031T>A (p.Ile677=) c.*423T>A (n.*423T>A) c.2004T>A (p.Ile668=) n.1484T>A c.*419T>A (n.*419T>A) c.2127T>A (p.Ile709=) n.2231T>A c.2010T>A (p.Ile670=) c.1947T>A (p.Ile649=) c.2046T>A (p.Ile682=) n.2468T>A c.1935T>A (p.Ile645=) n.2448T>A n.2274T>A c.1737T>A (p.Ile579=) c.1953T>A (p.Ile651=) c.1971T>A (p.Ile657=) | dbSNP |
17 | g.42322353A>C | CA399581558 | STAT3 | c.2030T>G (p.Ile677Ser) c.*422T>G (n.*422T>G) c.2003T>G (p.Ile668Ser) n.1483T>G c.*418T>G (n.*418T>G) c.2126T>G (p.Ile709Ser) n.2230T>G c.2009T>G (p.Ile670Ser) c.1946T>G (p.Ile649Ser) c.2045T>G (p.Ile682Ser) n.2467T>G c.1934T>G (p.Ile645Ser) n.2447T>G n.2273T>G c.1736T>G (p.Ile579Ser) c.1952T>G (p.Ile651Ser) c.1970T>G (p.Ile657Ser) | |
17 | g.42322353A>G | CA399581561 | STAT3 | c.2030T>C (p.Ile677Thr) c.*422T>C (n.*422T>C) c.2003T>C (p.Ile668Thr) n.1483T>C c.*418T>C (n.*418T>C) c.2126T>C (p.Ile709Thr) n.2230T>C c.2009T>C (p.Ile670Thr) c.1946T>C (p.Ile649Thr) c.2045T>C (p.Ile682Thr) n.2467T>C c.1934T>C (p.Ile645Thr) n.2447T>C n.2273T>C c.1736T>C (p.Ile579Thr) c.1952T>C (p.Ile651Thr) c.1970T>C (p.Ile657Thr) | |
17 | g.42322353A>T | CA399581562 | STAT3 | c.2030T>A (p.Ile677Asn) c.*422T>A (n.*422T>A) c.2003T>A (p.Ile668Asn) n.1483T>A c.*418T>A (n.*418T>A) c.2126T>A (p.Ile709Asn) n.2230T>A c.2009T>A (p.Ile670Asn) c.1946T>A (p.Ile649Asn) c.2045T>A (p.Ile682Asn) n.2467T>A c.1934T>A (p.Ile645Asn) n.2447T>A n.2273T>A c.1736T>A (p.Ile579Asn) c.1952T>A (p.Ile651Asn) c.1970T>A (p.Ile657Asn) | dbSNP |
17 | g.42322354T>A | CA399581566 | STAT3 | c.2029A>T (p.Ile677Phe) c.*421A>T (n.*421A>T) c.2002A>T (p.Ile668Phe) n.1482A>T c.*417A>T (n.*417A>T) c.2125A>T (p.Ile709Phe) n.2229A>T c.2008A>T (p.Ile670Phe) c.1945A>T (p.Ile649Phe) c.2044A>T (p.Ile682Phe) n.2466A>T c.1933A>T (p.Ile645Phe) n.2446A>T n.2272A>T c.1735A>T (p.Ile579Phe) c.1951A>T (p.Ile651Phe) c.1969A>T (p.Ile657Phe) | dbSNP |
17 | g.42322354T>C | CA399581578 | STAT3 | c.2029A>G (p.Ile677Val) c.*421A>G (n.*421A>G) c.2002A>G (p.Ile668Val) n.1482A>G c.*417A>G (n.*417A>G) c.2125A>G (p.Ile709Val) n.2229A>G c.2008A>G (p.Ile670Val) c.1945A>G (p.Ile649Val) c.2044A>G (p.Ile682Val) n.2466A>G c.1933A>G (p.Ile645Val) n.2446A>G n.2272A>G c.1735A>G (p.Ile579Val) c.1951A>G (p.Ile651Val) c.1969A>G (p.Ile657Val) | dbSNP |
17 | g.42322354T>G | CA399581580 | STAT3 | c.2029A>C (p.Ile677Leu) c.*421A>C (n.*421A>C) c.2002A>C (p.Ile668Leu) n.1482A>C c.*417A>C (n.*417A>C) c.2125A>C (p.Ile709Leu) n.2229A>C c.2008A>C (p.Ile670Leu) c.1945A>C (p.Ile649Leu) c.2044A>C (p.Ile682Leu) n.2466A>C c.1933A>C (p.Ile645Leu) n.2446A>C n.2272A>C c.1735A>C (p.Ile579Leu) c.1951A>C (p.Ile651Leu) c.1969A>C (p.Ile657Leu) | |
17 | g.42322355G>A | CA500061040 | STAT3 | c.2028C>T (p.Asp676=) c.*420C>T (n.*420C>T) c.2001C>T (p.Asp667=) n.1481C>T c.*416C>T (n.*416C>T) c.2124C>T (p.Asp708=) n.2228C>T c.2007C>T (p.Asp669=) c.1944C>T (p.Asp648=) c.2043C>T (p.Asp681=) n.2465C>T c.1932C>T (p.Asp644=) n.2445C>T n.2271C>T c.1734C>T (p.Asp578=) c.1950C>T (p.Asp650=) c.1968C>T (p.Asp656=) | |
17 | g.42322355G>C | CA399581589 | STAT3 | c.2028C>G (p.Asp676Glu) c.*420C>G (n.*420C>G) c.2001C>G (p.Asp667Glu) n.1481C>G c.*416C>G (n.*416C>G) c.2124C>G (p.Asp708Glu) n.2228C>G c.2007C>G (p.Asp669Glu) c.1944C>G (p.Asp648Glu) c.2043C>G (p.Asp681Glu) n.2465C>G c.1932C>G (p.Asp644Glu) n.2445C>G n.2271C>G c.1734C>G (p.Asp578Glu) c.1950C>G (p.Asp650Glu) c.1968C>G (p.Asp656Glu) | |
17 | g.42322355G>T | CA399581592 | STAT3 | c.2028C>A (p.Asp676Glu) c.*420C>A (n.*420C>A) c.2001C>A (p.Asp667Glu) n.1481C>A c.*416C>A (n.*416C>A) c.2124C>A (p.Asp708Glu) n.2228C>A c.2007C>A (p.Asp669Glu) c.1944C>A (p.Asp648Glu) c.2043C>A (p.Asp681Glu) n.2465C>A c.1932C>A (p.Asp644Glu) n.2445C>A n.2271C>A c.1734C>A (p.Asp578Glu) c.1950C>A (p.Asp650Glu) c.1968C>A (p.Asp656Glu) | |
17 | g.42322356T>A | CA399581595 | STAT3 | c.2027A>T (p.Asp676Val) c.*419A>T (n.*419A>T) c.2000A>T (p.Asp667Val) n.1480A>T c.*415A>T (n.*415A>T) c.2123A>T (p.Asp708Val) n.2227A>T c.2006A>T (p.Asp669Val) c.1943A>T (p.Asp648Val) c.2042A>T (p.Asp681Val) n.2464A>T c.1931A>T (p.Asp644Val) n.2444A>T n.2270A>T c.1733A>T (p.Asp578Val) c.1949A>T (p.Asp650Val) c.1967A>T (p.Asp656Val) | dbSNP |
17 | g.42322356T>C | CA399581596 | STAT3 | c.2027A>G (p.Asp676Gly) c.*419A>G (n.*419A>G) c.2000A>G (p.Asp667Gly) n.1480A>G c.*415A>G (n.*415A>G) c.2123A>G (p.Asp708Gly) n.2227A>G c.2006A>G (p.Asp669Gly) c.1943A>G (p.Asp648Gly) c.2042A>G (p.Asp681Gly) n.2464A>G c.1931A>G (p.Asp644Gly) n.2444A>G n.2270A>G c.1733A>G (p.Asp578Gly) c.1949A>G (p.Asp650Gly) c.1967A>G (p.Asp656Gly) | |
17 | g.42322356T>G | CA399581594 | STAT3 | c.2027A>C (p.Asp676Ala) c.*419A>C (n.*419A>C) c.2000A>C (p.Asp667Ala) n.1480A>C c.*415A>C (n.*415A>C) c.2123A>C (p.Asp708Ala) n.2227A>C c.2006A>C (p.Asp669Ala) c.1943A>C (p.Asp648Ala) c.2042A>C (p.Asp681Ala) n.2464A>C c.1931A>C (p.Asp644Ala) n.2444A>C n.2270A>C c.1733A>C (p.Asp578Ala) c.1949A>C (p.Asp650Ala) c.1967A>C (p.Asp656Ala) | |
17 | g.42322357C>A | CA399581599 | STAT3 | c.2026G>T (p.Asp676Tyr) c.*418G>T (n.*418G>T) c.1999G>T (p.Asp667Tyr) n.1479G>T c.*414G>T (n.*414G>T) c.2122G>T (p.Asp708Tyr) n.2226G>T c.2005G>T (p.Asp669Tyr) c.1942G>T (p.Asp648Tyr) c.2041G>T (p.Asp681Tyr) n.2463G>T c.1930G>T (p.Asp644Tyr) n.2443G>T n.2269G>T c.1732G>T (p.Asp578Tyr) c.1948G>T (p.Asp650Tyr) c.1966G>T (p.Asp656Tyr) | |
17 | g.42322357C>G | CA399581597 | STAT3 | c.2026G>C (p.Asp676His) c.*418G>C (n.*418G>C) c.1999G>C (p.Asp667His) n.1479G>C c.*414G>C (n.*414G>C) c.2122G>C (p.Asp708His) n.2226G>C c.2005G>C (p.Asp669His) c.1942G>C (p.Asp648His) c.2041G>C (p.Asp681His) n.2463G>C c.1930G>C (p.Asp644His) n.2443G>C n.2269G>C c.1732G>C (p.Asp578His) c.1948G>C (p.Asp650His) c.1966G>C (p.Asp656His) | dbSNP |
17 | g.42322357C>T | CA399581598 | STAT3 | c.2026G>A (p.Asp676Asn) c.*418G>A (n.*418G>A) c.1999G>A (p.Asp667Asn) n.1479G>A c.*414G>A (n.*414G>A) c.2122G>A (p.Asp708Asn) n.2226G>A c.2005G>A (p.Asp669Asn) c.1942G>A (p.Asp648Asn) c.2041G>A (p.Asp681Asn) n.2463G>A c.1930G>A (p.Asp644Asn) n.2443G>A n.2269G>A c.1732G>A (p.Asp578Asn) c.1948G>A (p.Asp650Asn) c.1966G>A (p.Asp656Asn) | dbSNP |
17 | g.42322358A>C | CA500061041 | STAT3 | c.2025T>G (p.Pro675=) c.*417T>G (n.*417T>G) c.1998T>G (p.Pro666=) n.1478T>G c.*413T>G (n.*413T>G) c.2121T>G (p.Pro707=) n.2225T>G c.2004T>G (p.Pro668=) c.1941T>G (p.Pro647=) c.2040T>G (p.Pro680=) n.2462T>G c.1929T>G (p.Pro643=) n.2442T>G n.2268T>G c.1731T>G (p.Pro577=) c.1947T>G (p.Pro649=) c.1965T>G (p.Pro655=) | gnomAD v4 |
17 | g.42322358A>G | CA500061043 | STAT3 | c.2025T>C (p.Pro675=) c.*417T>C (n.*417T>C) c.1998T>C (p.Pro666=) n.1478T>C c.*413T>C (n.*413T>C) c.2121T>C (p.Pro707=) n.2225T>C c.2004T>C (p.Pro668=) c.1941T>C (p.Pro647=) c.2040T>C (p.Pro680=) n.2462T>C c.1929T>C (p.Pro643=) n.2442T>C n.2268T>C c.1731T>C (p.Pro577=) c.1947T>C (p.Pro649=) c.1965T>C (p.Pro655=) | dbSNP |
17 | g.42322358A>T | CA500061042 | STAT3 | c.2025T>A (p.Pro675=) c.*417T>A (n.*417T>A) c.1998T>A (p.Pro666=) n.1478T>A c.*413T>A (n.*413T>A) c.2121T>A (p.Pro707=) n.2225T>A c.2004T>A (p.Pro668=) c.1941T>A (p.Pro647=) c.2040T>A (p.Pro680=) n.2462T>A c.1929T>A (p.Pro643=) n.2442T>A n.2268T>A c.1731T>A (p.Pro577=) c.1947T>A (p.Pro649=) c.1965T>A (p.Pro655=) | dbSNP |
17 | g.42322359G>A | CA399581602 | STAT3 | c.2024C>T (p.Pro675Leu) c.*416C>T (n.*416C>T) c.1997C>T (p.Pro666Leu) n.1477C>T c.*412C>T (n.*412C>T) c.2120C>T (p.Pro707Leu) n.2224C>T c.2003C>T (p.Pro668Leu) c.1940C>T (p.Pro647Leu) c.2039C>T (p.Pro680Leu) n.2461C>T c.1928C>T (p.Pro643Leu) n.2441C>T n.2267C>T c.1730C>T (p.Pro577Leu) c.1946C>T (p.Pro649Leu) c.1964C>T (p.Pro655Leu) | |
17 | g.42322359G>C | CA399581604 | STAT3 | c.2024C>G (p.Pro675Arg) c.*416C>G (n.*416C>G) c.1997C>G (p.Pro666Arg) n.1477C>G c.*412C>G (n.*412C>G) c.2120C>G (p.Pro707Arg) n.2224C>G c.2003C>G (p.Pro668Arg) c.1940C>G (p.Pro647Arg) c.2039C>G (p.Pro680Arg) n.2461C>G c.1928C>G (p.Pro643Arg) n.2441C>G n.2267C>G c.1730C>G (p.Pro577Arg) c.1946C>G (p.Pro649Arg) c.1964C>G (p.Pro655Arg) | |
17 | g.42322359G>T | CA399581607 | STAT3 | c.2024C>A (p.Pro675His) c.*416C>A (n.*416C>A) c.1997C>A (p.Pro666His) n.1477C>A c.*412C>A (n.*412C>A) c.2120C>A (p.Pro707His) n.2224C>A c.2003C>A (p.Pro668His) c.1940C>A (p.Pro647His) c.2039C>A (p.Pro680His) n.2461C>A c.1928C>A (p.Pro643His) n.2441C>A n.2267C>A c.1730C>A (p.Pro577His) c.1946C>A (p.Pro649His) c.1964C>A (p.Pro655His) | |
17 | g.42322360G>A | CA399581620 | STAT3 | c.2023C>T (p.Pro675Ser) c.*415C>T (n.*415C>T) c.1996C>T (p.Pro666Ser) n.1476C>T c.*411C>T (n.*411C>T) c.2119C>T (p.Pro707Ser) n.2223C>T c.2002C>T (p.Pro668Ser) c.1939C>T (p.Pro647Ser) c.2038C>T (p.Pro680Ser) n.2460C>T c.1927C>T (p.Pro643Ser) n.2440C>T n.2266C>T c.1729C>T (p.Pro577Ser) c.1945C>T (p.Pro649Ser) c.1963C>T (p.Pro655Ser) | dbSNP COSMIC |
17 | g.42322360G>C | CA399581623 | STAT3 | c.2023C>G (p.Pro675Ala) c.*415C>G (n.*415C>G) c.1996C>G (p.Pro666Ala) n.1476C>G c.*411C>G (n.*411C>G) c.2119C>G (p.Pro707Ala) n.2223C>G c.2002C>G (p.Pro668Ala) c.1939C>G (p.Pro647Ala) c.2038C>G (p.Pro680Ala) n.2460C>G c.1927C>G (p.Pro643Ala) n.2440C>G n.2266C>G c.1729C>G (p.Pro577Ala) c.1945C>G (p.Pro649Ala) c.1963C>G (p.Pro655Ala) | dbSNP |
17 | g.42322360G>T | CA399581627 | STAT3 | c.2023C>A (p.Pro675Thr) c.*415C>A (n.*415C>A) c.1996C>A (p.Pro666Thr) n.1476C>A c.*411C>A (n.*411C>A) c.2119C>A (p.Pro707Thr) n.2223C>A c.2002C>A (p.Pro668Thr) c.1939C>A (p.Pro647Thr) c.2038C>A (p.Pro680Thr) n.2460C>A c.1927C>A (p.Pro643Thr) n.2440C>A n.2266C>A c.1729C>A (p.Pro577Thr) c.1945C>A (p.Pro649Thr) c.1963C>A (p.Pro655Thr) | COSMIC |
17 | g.42322361A= | CA2260430716 | STAT3 | c.2022T= (p.Tyr674=) c.*414T= (n.*414T=) c.1995T= (p.Tyr665=) n.1475T= c.*410T= (n.*410T=) c.2118T= (p.Tyr706=) n.2222T= c.2001T= (p.Tyr667=) c.1938T= (p.Tyr646=) c.2037T= (p.Tyr679=) n.2459T= c.1926T= (p.Tyr642=) n.2439T= n.2265T= c.1728T= (p.Tyr576=) c.1944T= (p.Tyr648=) c.1962T= (p.Tyr654=) | |
17 | g.42322361A>C | CA399581633 | STAT3 | c.2022T>G (p.Tyr674Ter) c.*414T>G (n.*414T>G) c.1995T>G (p.Tyr665Ter) n.1475T>G c.*410T>G (n.*410T>G) c.2118T>G (p.Tyr706Ter) n.2222T>G c.2001T>G (p.Tyr667Ter) c.1938T>G (p.Tyr646Ter) c.2037T>G (p.Tyr679Ter) n.2459T>G c.1926T>G (p.Tyr642Ter) n.2439T>G n.2265T>G c.1728T>G (p.Tyr576Ter) c.1944T>G (p.Tyr648Ter) c.1962T>G (p.Tyr654Ter) | |
17 | g.42322361A>G | CA8575176 | STAT3 | c.2022T>C (p.Tyr674=) c.*414T>C (n.*414T>C) c.1995T>C (p.Tyr665=) n.1475T>C c.*410T>C (n.*410T>C) c.2118T>C (p.Tyr706=) n.2222T>C c.2001T>C (p.Tyr667=) c.1938T>C (p.Tyr646=) c.2037T>C (p.Tyr679=) n.2459T>C c.1926T>C (p.Tyr642=) n.2439T>C n.2265T>C c.1728T>C (p.Tyr576=) c.1944T>C (p.Tyr648=) c.1962T>C (p.Tyr654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42322361A>T | CA399581638 | STAT3 | c.2022T>A (p.Tyr674Ter) c.*414T>A (n.*414T>A) c.1995T>A (p.Tyr665Ter) n.1475T>A c.*410T>A (n.*410T>A) c.2118T>A (p.Tyr706Ter) n.2222T>A c.2001T>A (p.Tyr667Ter) c.1938T>A (p.Tyr646Ter) c.2037T>A (p.Tyr679Ter) n.2459T>A c.1926T>A (p.Tyr642Ter) n.2439T>A n.2265T>A c.1728T>A (p.Tyr576Ter) c.1944T>A (p.Tyr648Ter) c.1962T>A (p.Tyr654Ter) | |
17 | g.42322362T>A | CA399581641 | STAT3 | c.2021A>T (p.Tyr674Phe) c.*413A>T (n.*413A>T) c.1994A>T (p.Tyr665Phe) n.1474A>T c.*409A>T (n.*409A>T) c.2117A>T (p.Tyr706Phe) n.2221A>T c.2000A>T (p.Tyr667Phe) c.1937A>T (p.Tyr646Phe) c.2036A>T (p.Tyr679Phe) n.2458A>T c.1925A>T (p.Tyr642Phe) n.2438A>T n.2264A>T c.1727A>T (p.Tyr576Phe) c.1943A>T (p.Tyr648Phe) c.1961A>T (p.Tyr654Phe) | |
17 | g.42322362T>C | CA399581645 | STAT3 | c.2021A>G (p.Tyr674Cys) c.*413A>G (n.*413A>G) c.1994A>G (p.Tyr665Cys) n.1474A>G c.*409A>G (n.*409A>G) c.2117A>G (p.Tyr706Cys) n.2221A>G c.2000A>G (p.Tyr667Cys) c.1937A>G (p.Tyr646Cys) c.2036A>G (p.Tyr679Cys) n.2458A>G c.1925A>G (p.Tyr642Cys) n.2438A>G n.2264A>G c.1727A>G (p.Tyr576Cys) c.1943A>G (p.Tyr648Cys) c.1961A>G (p.Tyr654Cys) | |
17 | g.42322362T>G | CA399581647 | STAT3 | c.2021A>C (p.Tyr674Ser) c.*413A>C (n.*413A>C) c.1994A>C (p.Tyr665Ser) n.1474A>C c.*409A>C (n.*409A>C) c.2117A>C (p.Tyr706Ser) n.2221A>C c.2000A>C (p.Tyr667Ser) c.1937A>C (p.Tyr646Ser) c.2036A>C (p.Tyr679Ser) n.2458A>C c.1925A>C (p.Tyr642Ser) n.2438A>C n.2264A>C c.1727A>C (p.Tyr576Ser) c.1943A>C (p.Tyr648Ser) c.1961A>C (p.Tyr654Ser) | |
17 | g.42322363A>C | CA399581657 | STAT3 | c.2020T>G (p.Tyr674Asp) c.*412T>G (n.*412T>G) c.1993T>G (p.Tyr665Asp) n.1473T>G c.*408T>G (n.*408T>G) c.2116T>G (p.Tyr706Asp) n.2220T>G c.1999T>G (p.Tyr667Asp) c.1936T>G (p.Tyr646Asp) c.2035T>G (p.Tyr679Asp) n.2457T>G c.1924T>G (p.Tyr642Asp) n.2437T>G n.2263T>G c.1726T>G (p.Tyr576Asp) c.1942T>G (p.Tyr648Asp) c.1960T>G (p.Tyr654Asp) | |
17 | g.42322363A>G | CA399581654 | STAT3 | c.2020T>C (p.Tyr674His) c.*412T>C (n.*412T>C) c.1993T>C (p.Tyr665His) n.1473T>C c.*408T>C (n.*408T>C) c.2116T>C (p.Tyr706His) n.2220T>C c.1999T>C (p.Tyr667His) c.1936T>C (p.Tyr646His) c.2035T>C (p.Tyr679His) n.2457T>C c.1924T>C (p.Tyr642His) n.2437T>C n.2263T>C c.1726T>C (p.Tyr576His) c.1942T>C (p.Tyr648His) c.1960T>C (p.Tyr654His) | |
17 | g.42322363A>T | CA399581651 | STAT3 | c.2020T>A (p.Tyr674Asn) c.*412T>A (n.*412T>A) c.1993T>A (p.Tyr665Asn) n.1473T>A c.*408T>A (n.*408T>A) c.2116T>A (p.Tyr706Asn) n.2220T>A c.1999T>A (p.Tyr667Asn) c.1936T>A (p.Tyr646Asn) c.2035T>A (p.Tyr679Asn) n.2457T>A c.1924T>A (p.Tyr642Asn) n.2437T>A n.2263T>A c.1726T>A (p.Tyr576Asn) c.1942T>A (p.Tyr648Asn) c.1960T>A (p.Tyr654Asn) | dbSNP |
17 | g.42322364G>A | CA500061046 | STAT3 | c.2019C>T (p.Leu673=) c.*411C>T (n.*411C>T) c.1992C>T (p.Leu664=) n.1472C>T c.*407C>T (n.*407C>T) c.2115C>T (p.Leu705=) n.2219C>T c.1998C>T (p.Leu666=) c.1935C>T (p.Leu645=) c.2034C>T (p.Leu678=) n.2456C>T c.1923C>T (p.Leu641=) n.2436C>T n.2262C>T c.1725C>T (p.Leu575=) c.1941C>T (p.Leu647=) c.1959C>T (p.Leu653=) | gnomAD v4 |
17 | g.42322364G>C | CA500061045 | STAT3 | c.2019C>G (p.Leu673=) c.*411C>G (n.*411C>G) c.1992C>G (p.Leu664=) n.1472C>G c.*407C>G (n.*407C>G) c.2115C>G (p.Leu705=) n.2219C>G c.1998C>G (p.Leu666=) c.1935C>G (p.Leu645=) c.2034C>G (p.Leu678=) n.2456C>G c.1923C>G (p.Leu641=) n.2436C>G n.2262C>G c.1725C>G (p.Leu575=) c.1941C>G (p.Leu647=) c.1959C>G (p.Leu653=) | dbSNP |
17 | g.42322364G>T | CA500061044 | STAT3 | c.2019C>A (p.Leu673=) c.*411C>A (n.*411C>A) c.1992C>A (p.Leu664=) n.1472C>A c.*407C>A (n.*407C>A) c.2115C>A (p.Leu705=) n.2219C>A c.1998C>A (p.Leu666=) c.1935C>A (p.Leu645=) c.2034C>A (p.Leu678=) n.2456C>A c.1923C>A (p.Leu641=) n.2436C>A n.2262C>A c.1725C>A (p.Leu575=) c.1941C>A (p.Leu647=) c.1959C>A (p.Leu653=) | dbSNP |
17 | g.42322365A>C | CA399581660 | STAT3 | c.2018T>G (p.Leu673Arg) c.*410T>G (n.*410T>G) c.1991T>G (p.Leu664Arg) n.1471T>G c.*406T>G (n.*406T>G) c.2114T>G (p.Leu705Arg) n.2218T>G c.1997T>G (p.Leu666Arg) c.1934T>G (p.Leu645Arg) c.2033T>G (p.Leu678Arg) n.2455T>G c.1922T>G (p.Leu641Arg) n.2435T>G n.2261T>G c.1724T>G (p.Leu575Arg) c.1940T>G (p.Leu647Arg) c.1958T>G (p.Leu653Arg) | |
17 | g.42322365A>G | CA399581663 | STAT3 | c.2018T>C (p.Leu673Pro) c.*410T>C (n.*410T>C) c.1991T>C (p.Leu664Pro) n.1471T>C c.*406T>C (n.*406T>C) c.2114T>C (p.Leu705Pro) n.2218T>C c.1997T>C (p.Leu666Pro) c.1934T>C (p.Leu645Pro) c.2033T>C (p.Leu678Pro) n.2455T>C c.1922T>C (p.Leu641Pro) n.2435T>C n.2261T>C c.1724T>C (p.Leu575Pro) c.1940T>C (p.Leu647Pro) c.1958T>C (p.Leu653Pro) | dbSNP |
17 | g.42322365A>T | CA399581665 | STAT3 | c.2018T>A (p.Leu673His) c.*410T>A (n.*410T>A) c.1991T>A (p.Leu664His) n.1471T>A c.*406T>A (n.*406T>A) c.2114T>A (p.Leu705His) n.2218T>A c.1997T>A (p.Leu666His) c.1934T>A (p.Leu645His) c.2033T>A (p.Leu678His) n.2455T>A c.1922T>A (p.Leu641His) n.2435T>A n.2261T>A c.1724T>A (p.Leu575His) c.1940T>A (p.Leu647His) c.1958T>A (p.Leu653His) | dbSNP |
17 | g.42322366G>A | CA399581669 | STAT3 | c.2017C>T (p.Leu673Phe) c.*409C>T (n.*409C>T) c.1990C>T (p.Leu664Phe) n.1470C>T c.*405C>T (n.*405C>T) c.2113C>T (p.Leu705Phe) n.2217C>T c.1996C>T (p.Leu666Phe) c.1933C>T (p.Leu645Phe) c.2032C>T (p.Leu678Phe) n.2454C>T c.1921C>T (p.Leu641Phe) n.2434C>T n.2260C>T c.1723C>T (p.Leu575Phe) c.1939C>T (p.Leu647Phe) c.1957C>T (p.Leu653Phe) | gnomAD v4 |
17 | g.42322366G>C | CA399581672 | STAT3 | c.2017C>G (p.Leu673Val) c.*409C>G (n.*409C>G) c.1990C>G (p.Leu664Val) n.1470C>G c.*405C>G (n.*405C>G) c.2113C>G (p.Leu705Val) n.2217C>G c.1996C>G (p.Leu666Val) c.1933C>G (p.Leu645Val) c.2032C>G (p.Leu678Val) n.2454C>G c.1921C>G (p.Leu641Val) n.2434C>G n.2260C>G c.1723C>G (p.Leu575Val) c.1939C>G (p.Leu647Val) c.1957C>G (p.Leu653Val) | dbSNP |
17 | g.42322366G>T | CA399581675 | STAT3 | c.2017C>A (p.Leu673Ile) c.*409C>A (n.*409C>A) c.1990C>A (p.Leu664Ile) n.1470C>A c.*405C>A (n.*405C>A) c.2113C>A (p.Leu705Ile) n.2217C>A c.1996C>A (p.Leu666Ile) c.1933C>A (p.Leu645Ile) c.2032C>A (p.Leu678Ile) n.2454C>A c.1921C>A (p.Leu641Ile) n.2434C>A n.2260C>A c.1723C>A (p.Leu575Ile) c.1939C>A (p.Leu647Ile) c.1957C>A (p.Leu653Ile) | |
17 | g.42322367A>C | CA399581677 | STAT3 | c.2016T>G (p.Tyr672Ter) c.*408T>G (n.*408T>G) c.1989T>G (p.Tyr663Ter) n.1469T>G c.*404T>G (n.*404T>G) c.2112T>G (p.Tyr704Ter) n.2216T>G c.1995T>G (p.Tyr665Ter) c.1932T>G (p.Tyr644Ter) c.2031T>G (p.Tyr677Ter) n.2453T>G c.1920T>G (p.Tyr640Ter) n.2433T>G n.2259T>G c.1722T>G (p.Tyr574Ter) c.1938T>G (p.Tyr646Ter) c.1956T>G (p.Tyr652Ter) | |
17 | g.42322367A>G | CA500061047 | STAT3 | c.2016T>C (p.Tyr672=) c.*408T>C (n.*408T>C) c.1989T>C (p.Tyr663=) n.1469T>C c.*404T>C (n.*404T>C) c.2112T>C (p.Tyr704=) n.2216T>C c.1995T>C (p.Tyr665=) c.1932T>C (p.Tyr644=) c.2031T>C (p.Tyr677=) n.2453T>C c.1920T>C (p.Tyr640=) n.2433T>C n.2259T>C c.1722T>C (p.Tyr574=) c.1938T>C (p.Tyr646=) c.1956T>C (p.Tyr652=) | |
17 | g.42322367A>T | CA399581680 | STAT3 | c.2016T>A (p.Tyr672Ter) c.*408T>A (n.*408T>A) c.1989T>A (p.Tyr663Ter) n.1469T>A c.*404T>A (n.*404T>A) c.2112T>A (p.Tyr704Ter) n.2216T>A c.1995T>A (p.Tyr665Ter) c.1932T>A (p.Tyr644Ter) c.2031T>A (p.Tyr677Ter) n.2453T>A c.1920T>A (p.Tyr640Ter) n.2433T>A n.2259T>A c.1722T>A (p.Tyr574Ter) c.1938T>A (p.Tyr646Ter) c.1956T>A (p.Tyr652Ter) | |
17 | g.42322368T>A | CA399581683 | STAT3 | c.2015A>T (p.Tyr672Phe) c.*407A>T (n.*407A>T) c.1988A>T (p.Tyr663Phe) n.1468A>T c.*403A>T (n.*403A>T) c.2111A>T (p.Tyr704Phe) n.2215A>T c.1994A>T (p.Tyr665Phe) c.1931A>T (p.Tyr644Phe) c.2030A>T (p.Tyr677Phe) n.2452A>T c.1919A>T (p.Tyr640Phe) n.2432A>T n.2258A>T c.1721A>T (p.Tyr574Phe) c.1937A>T (p.Tyr646Phe) c.1955A>T (p.Tyr652Phe) | dbSNP gnomAD v2 |
17 | g.42322368T>C | CA399581684 | STAT3 | c.2015A>G (p.Tyr672Cys) c.*407A>G (n.*407A>G) c.1988A>G (p.Tyr663Cys) n.1468A>G c.*403A>G (n.*403A>G) c.2111A>G (p.Tyr704Cys) n.2215A>G c.1994A>G (p.Tyr665Cys) c.1931A>G (p.Tyr644Cys) c.2030A>G (p.Tyr677Cys) n.2452A>G c.1919A>G (p.Tyr640Cys) n.2432A>G n.2258A>G c.1721A>G (p.Tyr574Cys) c.1937A>G (p.Tyr646Cys) c.1955A>G (p.Tyr652Cys) | ClinVar dbSNP gnomAD v4 |
17 | g.42322368T>G | CA399581686 | STAT3 | c.2015A>C (p.Tyr672Ser) c.*407A>C (n.*407A>C) c.1988A>C (p.Tyr663Ser) n.1468A>C c.*403A>C (n.*403A>C) c.2111A>C (p.Tyr704Ser) n.2215A>C c.1994A>C (p.Tyr665Ser) c.1931A>C (p.Tyr644Ser) c.2030A>C (p.Tyr677Ser) n.2452A>C c.1919A>C (p.Tyr640Ser) n.2432A>C n.2258A>C c.1721A>C (p.Tyr574Ser) c.1937A>C (p.Tyr646Ser) c.1955A>C (p.Tyr652Ser) | |
17 | g.42322368T= | CA2260430717 | STAT3 | c.2015A= (p.Tyr672=) c.*407A= (n.*407A=) c.1988A= (p.Tyr663=) n.1468A= c.*403A= (n.*403A=) c.2111A= (p.Tyr704=) n.2215A= c.1994A= (p.Tyr665=) c.1931A= (p.Tyr644=) c.2030A= (p.Tyr677=) n.2452A= c.1919A= (p.Tyr640=) n.2432A= n.2258A= c.1721A= (p.Tyr574=) c.1937A= (p.Tyr646=) c.1955A= (p.Tyr652=) | |
17 | g.42322369A>C | CA399581689 | STAT3 | c.2014T>G (p.Tyr672Asp) c.*406T>G (n.*406T>G) c.1987T>G (p.Tyr663Asp) n.1467T>G c.*402T>G (n.*402T>G) c.2110T>G (p.Tyr704Asp) n.2214T>G c.1993T>G (p.Tyr665Asp) c.1930T>G (p.Tyr644Asp) c.2029T>G (p.Tyr677Asp) n.2451T>G c.1918T>G (p.Tyr640Asp) n.2431T>G n.2257T>G c.1720T>G (p.Tyr574Asp) c.1936T>G (p.Tyr646Asp) c.1954T>G (p.Tyr652Asp) | |
17 | g.42322369A>G | CA399581692 | STAT3 | c.2014T>C (p.Tyr672His) c.*406T>C (n.*406T>C) c.1987T>C (p.Tyr663His) n.1467T>C c.*402T>C (n.*402T>C) c.2110T>C (p.Tyr704His) n.2214T>C c.1993T>C (p.Tyr665His) c.1930T>C (p.Tyr644His) c.2029T>C (p.Tyr677His) n.2451T>C c.1918T>C (p.Tyr640His) n.2431T>C n.2257T>C c.1720T>C (p.Tyr574His) c.1936T>C (p.Tyr646His) c.1954T>C (p.Tyr652His) | dbSNP gnomAD v4 |
17 | g.42322369A>T | CA399581695 | STAT3 | c.2014T>A (p.Tyr672Asn) c.*406T>A (n.*406T>A) c.1987T>A (p.Tyr663Asn) n.1467T>A c.*402T>A (n.*402T>A) c.2110T>A (p.Tyr704Asn) n.2214T>A c.1993T>A (p.Tyr665Asn) c.1930T>A (p.Tyr644Asn) c.2029T>A (p.Tyr677Asn) n.2451T>A c.1918T>A (p.Tyr640Asn) n.2431T>A n.2257T>A c.1720T>A (p.Tyr574Asn) c.1936T>A (p.Tyr646Asn) c.1954T>A (p.Tyr652Asn) | dbSNP |
17 | g.42322370G>A | CA500061050 | STAT3 | c.2013C>T (p.Val671=) c.*405C>T (n.*405C>T) c.1986C>T (p.Val662=) n.1466C>T c.*401C>T (n.*401C>T) c.2109C>T (p.Val703=) n.2213C>T c.1992C>T (p.Val664=) c.1929C>T (p.Val643=) c.2028C>T (p.Val676=) n.2450C>T c.1917C>T (p.Val639=) n.2430C>T n.2256C>T c.1719C>T (p.Val573=) c.1935C>T (p.Val645=) c.1953C>T (p.Val651=) | dbSNP gnomAD v4 |
17 | g.42322370G>C | CA500061051 | STAT3 | c.2013C>G (p.Val671=) c.*405C>G (n.*405C>G) c.1986C>G (p.Val662=) n.1466C>G c.*401C>G (n.*401C>G) c.2109C>G (p.Val703=) n.2213C>G c.1992C>G (p.Val664=) c.1929C>G (p.Val643=) c.2028C>G (p.Val676=) n.2450C>G c.1917C>G (p.Val639=) n.2430C>G n.2256C>G c.1719C>G (p.Val573=) c.1935C>G (p.Val645=) c.1953C>G (p.Val651=) | dbSNP |
17 | g.42322370G>T | CA500061052 | STAT3 | c.2013C>A (p.Val671=) c.*405C>A (n.*405C>A) c.1986C>A (p.Val662=) n.1466C>A c.*401C>A (n.*401C>A) c.2109C>A (p.Val703=) n.2213C>A c.1992C>A (p.Val664=) c.1929C>A (p.Val643=) c.2028C>A (p.Val676=) n.2450C>A c.1917C>A (p.Val639=) n.2430C>A n.2256C>A c.1719C>A (p.Val573=) c.1935C>A (p.Val645=) c.1953C>A (p.Val651=) | |
17 | g.42322371A>C | CA399581700 | STAT3 | c.2012T>G (p.Val671Gly) c.*404T>G (n.*404T>G) c.1985T>G (p.Val662Gly) n.1465T>G c.*400T>G (n.*400T>G) c.2108T>G (p.Val703Gly) n.2212T>G c.1991T>G (p.Val664Gly) c.1928T>G (p.Val643Gly) c.2027T>G (p.Val676Gly) n.2449T>G c.1916T>G (p.Val639Gly) n.2429T>G n.2255T>G c.1718T>G (p.Val573Gly) c.1934T>G (p.Val645Gly) c.1952T>G (p.Val651Gly) | |
17 | g.42322371A>G | CA399581701 | STAT3 | c.2012T>C (p.Val671Ala) c.*404T>C (n.*404T>C) c.1985T>C (p.Val662Ala) n.1465T>C c.*400T>C (n.*400T>C) c.2108T>C (p.Val703Ala) n.2212T>C c.1991T>C (p.Val664Ala) c.1928T>C (p.Val643Ala) c.2027T>C (p.Val676Ala) n.2449T>C c.1916T>C (p.Val639Ala) n.2429T>C n.2255T>C c.1718T>C (p.Val573Ala) c.1934T>C (p.Val645Ala) c.1952T>C (p.Val651Ala) | dbSNP |
17 | g.42322371A>T | CA399581698 | STAT3 | c.2012T>A (p.Val671Asp) c.*404T>A (n.*404T>A) c.1985T>A (p.Val662Asp) n.1465T>A c.*400T>A (n.*400T>A) c.2108T>A (p.Val703Asp) n.2212T>A c.1991T>A (p.Val664Asp) c.1928T>A (p.Val643Asp) c.2027T>A (p.Val676Asp) n.2449T>A c.1916T>A (p.Val639Asp) n.2429T>A n.2255T>A c.1718T>A (p.Val573Asp) c.1934T>A (p.Val645Asp) c.1952T>A (p.Val651Asp) | dbSNP |
17 | g.42322372C>A | CA399581704 | STAT3 | c.2011G>T (p.Val671Phe) c.*403G>T (n.*403G>T) c.1984G>T (p.Val662Phe) n.1464G>T c.*399G>T (n.*399G>T) c.2107G>T (p.Val703Phe) n.2211G>T c.1990G>T (p.Val664Phe) c.1927G>T (p.Val643Phe) c.2026G>T (p.Val676Phe) n.2448G>T c.1915G>T (p.Val639Phe) n.2428G>T n.2254G>T c.1717G>T (p.Val573Phe) c.1933G>T (p.Val645Phe) c.1951G>T (p.Val651Phe) | dbSNP |
17 | g.42322372C>G | CA399581707 | STAT3 | c.2011G>C (p.Val671Leu) c.*403G>C (n.*403G>C) c.1984G>C (p.Val662Leu) n.1464G>C c.*399G>C (n.*399G>C) c.2107G>C (p.Val703Leu) n.2211G>C c.1990G>C (p.Val664Leu) c.1927G>C (p.Val643Leu) c.2026G>C (p.Val676Leu) n.2448G>C c.1915G>C (p.Val639Leu) n.2428G>C n.2254G>C c.1717G>C (p.Val573Leu) c.1933G>C (p.Val645Leu) c.1951G>C (p.Val651Leu) | dbSNP |
17 | g.42322372C>T | CA399581710 | STAT3 | c.2011G>A (p.Val671Ile) c.*403G>A (n.*403G>A) c.1984G>A (p.Val662Ile) n.1464G>A c.*399G>A (n.*399G>A) c.2107G>A (p.Val703Ile) n.2211G>A c.1990G>A (p.Val664Ile) c.1927G>A (p.Val643Ile) c.2026G>A (p.Val676Ile) n.2448G>A c.1915G>A (p.Val639Ile) n.2428G>A n.2254G>A c.1717G>A (p.Val573Ile) c.1933G>A (p.Val645Ile) c.1951G>A (p.Val651Ile) | dbSNP |
17 | g.42322373C>A | CA500061055 | STAT3 | c.2010G>T (p.Leu670=) c.*402G>T (n.*402G>T) c.1983G>T (p.Leu661=) n.1463G>T c.*398G>T (n.*398G>T) c.2106G>T (p.Leu702=) n.2210G>T c.1989G>T (p.Leu663=) c.1926G>T (p.Leu642=) c.2025G>T (p.Leu675=) n.2447G>T c.1914G>T (p.Leu638=) n.2427G>T n.2253G>T c.1716G>T (p.Leu572=) c.1932G>T (p.Leu644=) c.1950G>T (p.Leu650=) | dbSNP |
17 | g.42322373C>G | CA500061053 | STAT3 | c.2010G>C (p.Leu670=) c.*402G>C (n.*402G>C) c.1983G>C (p.Leu661=) n.1463G>C c.*398G>C (n.*398G>C) c.2106G>C (p.Leu702=) n.2210G>C c.1989G>C (p.Leu663=) c.1926G>C (p.Leu642=) c.2025G>C (p.Leu675=) n.2447G>C c.1914G>C (p.Leu638=) n.2427G>C n.2253G>C c.1716G>C (p.Leu572=) c.1932G>C (p.Leu644=) c.1950G>C (p.Leu650=) | dbSNP |
17 | g.42322373C>T | CA500061054 | STAT3 | c.2010G>A (p.Leu670=) c.*402G>A (n.*402G>A) c.1983G>A (p.Leu661=) n.1463G>A c.*398G>A (n.*398G>A) c.2106G>A (p.Leu702=) n.2210G>A c.1989G>A (p.Leu663=) c.1926G>A (p.Leu642=) c.2025G>A (p.Leu675=) n.2447G>A c.1914G>A (p.Leu638=) n.2427G>A n.2253G>A c.1716G>A (p.Leu572=) c.1932G>A (p.Leu644=) c.1950G>A (p.Leu650=) | dbSNP |
17 | g.42322374A>C | CA399581712 | STAT3 | c.2009T>G (p.Leu670Arg) c.*401T>G (n.*401T>G) c.1982T>G (p.Leu661Arg) n.1462T>G c.*397T>G (n.*397T>G) c.2105T>G (p.Leu702Arg) n.2209T>G c.1988T>G (p.Leu663Arg) c.1925T>G (p.Leu642Arg) c.2024T>G (p.Leu675Arg) n.2446T>G c.1913T>G (p.Leu638Arg) n.2426T>G n.2252T>G c.1715T>G (p.Leu572Arg) c.1931T>G (p.Leu644Arg) c.1949T>G (p.Leu650Arg) | |
17 | g.42322374A>G | CA399581714 | STAT3 | c.2009T>C (p.Leu670Pro) c.*401T>C (n.*401T>C) c.1982T>C (p.Leu661Pro) n.1462T>C c.*397T>C (n.*397T>C) c.2105T>C (p.Leu702Pro) n.2209T>C c.1988T>C (p.Leu663Pro) c.1925T>C (p.Leu642Pro) c.2024T>C (p.Leu675Pro) n.2446T>C c.1913T>C (p.Leu638Pro) n.2426T>C n.2252T>C c.1715T>C (p.Leu572Pro) c.1931T>C (p.Leu644Pro) c.1949T>C (p.Leu650Pro) | |
17 | g.42322374A>T | CA399581716 | STAT3 | c.2009T>A (p.Leu670Gln) c.*401T>A (n.*401T>A) c.1982T>A (p.Leu661Gln) n.1462T>A c.*397T>A (n.*397T>A) c.2105T>A (p.Leu702Gln) n.2209T>A c.1988T>A (p.Leu663Gln) c.1925T>A (p.Leu642Gln) c.2024T>A (p.Leu675Gln) n.2446T>A c.1913T>A (p.Leu638Gln) n.2426T>A n.2252T>A c.1715T>A (p.Leu572Gln) c.1931T>A (p.Leu644Gln) c.1949T>A (p.Leu650Gln) | dbSNP |
17 | g.42322375G>A | CA500061056 | STAT3 | c.2008C>T (p.Leu670=) c.*400C>T (n.*400C>T) c.1981C>T (p.Leu661=) n.1461C>T c.*396C>T (n.*396C>T) c.2104C>T (p.Leu702=) n.2208C>T c.1987C>T (p.Leu663=) c.1924C>T (p.Leu642=) c.2023C>T (p.Leu675=) n.2445C>T c.1912C>T (p.Leu638=) n.2425C>T n.2251C>T c.1714C>T (p.Leu572=) c.1930C>T (p.Leu644=) c.1948C>T (p.Leu650=) | dbSNP gnomAD v4 |
17 | g.42322375G>C | CA399581722 | STAT3 | c.2008C>G (p.Leu670Val) c.*400C>G (n.*400C>G) c.1981C>G (p.Leu661Val) n.1461C>G c.*396C>G (n.*396C>G) c.2104C>G (p.Leu702Val) n.2208C>G c.1987C>G (p.Leu663Val) c.1924C>G (p.Leu642Val) c.2023C>G (p.Leu675Val) n.2445C>G c.1912C>G (p.Leu638Val) n.2425C>G n.2251C>G c.1714C>G (p.Leu572Val) c.1930C>G (p.Leu644Val) c.1948C>G (p.Leu650Val) | dbSNP |
17 | g.42322375G>T | CA399581725 | STAT3 | c.2008C>A (p.Leu670Met) c.*400C>A (n.*400C>A) c.1981C>A (p.Leu661Met) n.1461C>A c.*396C>A (n.*396C>A) c.2104C>A (p.Leu702Met) n.2208C>A c.1987C>A (p.Leu663Met) c.1924C>A (p.Leu642Met) c.2023C>A (p.Leu675Met) n.2445C>A c.1912C>A (p.Leu638Met) n.2425C>A n.2251C>A c.1714C>A (p.Leu572Met) c.1930C>A (p.Leu644Met) c.1948C>A (p.Leu650Met) | |
17 | g.42322376T>A | CA500061058 | STAT3 | c.2007A>T (p.Pro669=) c.*399A>T (n.*399A>T) c.1980A>T (p.Pro660=) n.1460A>T c.*395A>T (n.*395A>T) c.2103A>T (p.Pro701=) n.2207A>T c.1986A>T (p.Pro662=) c.1923A>T (p.Pro641=) c.2022A>T (p.Pro674=) n.2444A>T c.1911A>T (p.Pro637=) n.2424A>T n.2250A>T c.1713A>T (p.Pro571=) c.1929A>T (p.Pro643=) c.1947A>T (p.Pro649=) | |
17 | g.42322376T>C | CA500061059 | STAT3 | c.2007A>G (p.Pro669=) c.*399A>G (n.*399A>G) c.1980A>G (p.Pro660=) n.1460A>G c.*395A>G (n.*395A>G) c.2103A>G (p.Pro701=) n.2207A>G c.1986A>G (p.Pro662=) c.1923A>G (p.Pro641=) c.2022A>G (p.Pro674=) n.2444A>G c.1911A>G (p.Pro637=) n.2424A>G n.2250A>G c.1713A>G (p.Pro571=) c.1929A>G (p.Pro643=) c.1947A>G (p.Pro649=) | |
17 | g.42322376T>G | CA500061057 | STAT3 | c.2007A>C (p.Pro669=) c.*399A>C (n.*399A>C) c.1980A>C (p.Pro660=) n.1460A>C c.*395A>C (n.*395A>C) c.2103A>C (p.Pro701=) n.2207A>C c.1986A>C (p.Pro662=) c.1923A>C (p.Pro641=) c.2022A>C (p.Pro674=) n.2444A>C c.1911A>C (p.Pro637=) n.2424A>C n.2250A>C c.1713A>C (p.Pro571=) c.1929A>C (p.Pro643=) c.1947A>C (p.Pro649=) | ClinVar |
17 | g.42322377G>A | CA399581728 | STAT3 | c.2006C>T (p.Pro669Leu) c.*398C>T (n.*398C>T) c.1979C>T (p.Pro660Leu) n.1459C>T c.*394C>T (n.*394C>T) c.2102C>T (p.Pro701Leu) n.2206C>T c.1985C>T (p.Pro662Leu) c.1922C>T (p.Pro641Leu) c.2021C>T (p.Pro674Leu) n.2443C>T c.1910C>T (p.Pro637Leu) n.2423C>T n.2249C>T c.1712C>T (p.Pro571Leu) c.1928C>T (p.Pro643Leu) c.1946C>T (p.Pro649Leu) | dbSNP |
17 | g.42322377G>C | CA399581730 | STAT3 | c.2006C>G (p.Pro669Arg) c.*398C>G (n.*398C>G) c.1979C>G (p.Pro660Arg) n.1459C>G c.*394C>G (n.*394C>G) c.2102C>G (p.Pro701Arg) n.2206C>G c.1985C>G (p.Pro662Arg) c.1922C>G (p.Pro641Arg) c.2021C>G (p.Pro674Arg) n.2443C>G c.1910C>G (p.Pro637Arg) n.2423C>G n.2249C>G c.1712C>G (p.Pro571Arg) c.1928C>G (p.Pro643Arg) c.1946C>G (p.Pro649Arg) | dbSNP |
17 | g.42322377G>T | CA399581732 | STAT3 | c.2006C>A (p.Pro669Gln) c.*398C>A (n.*398C>A) c.1979C>A (p.Pro660Gln) n.1459C>A c.*394C>A (n.*394C>A) c.2102C>A (p.Pro701Gln) n.2206C>A c.1985C>A (p.Pro662Gln) c.1922C>A (p.Pro641Gln) c.2021C>A (p.Pro674Gln) n.2443C>A c.1910C>A (p.Pro637Gln) n.2423C>A n.2249C>A c.1712C>A (p.Pro571Gln) c.1928C>A (p.Pro643Gln) c.1946C>A (p.Pro649Gln) | dbSNP |
17 | g.42322378G>A | CA399581735 | STAT3 | c.2005C>T (p.Pro669Ser) c.*397C>T (n.*397C>T) c.1978C>T (p.Pro660Ser) n.1458C>T c.*393C>T (n.*393C>T) c.2101C>T (p.Pro701Ser) n.2205C>T c.1984C>T (p.Pro662Ser) c.1921C>T (p.Pro641Ser) c.2020C>T (p.Pro674Ser) n.2442C>T c.1909C>T (p.Pro637Ser) n.2422C>T n.2248C>T c.1711C>T (p.Pro571Ser) c.1927C>T (p.Pro643Ser) c.1945C>T (p.Pro649Ser) | ClinVar dbSNP |
17 | g.42322378G>C | CA399581736 | STAT3 | c.2005C>G (p.Pro669Ala) c.*397C>G (n.*397C>G) c.1978C>G (p.Pro660Ala) n.1458C>G c.*393C>G (n.*393C>G) c.2101C>G (p.Pro701Ala) n.2205C>G c.1984C>G (p.Pro662Ala) c.1921C>G (p.Pro641Ala) c.2020C>G (p.Pro674Ala) n.2442C>G c.1909C>G (p.Pro637Ala) n.2422C>G n.2248C>G c.1711C>G (p.Pro571Ala) c.1927C>G (p.Pro643Ala) c.1945C>G (p.Pro649Ala) | dbSNP |
17 | g.42322378G>T | CA399581737 | STAT3 | c.2005C>A (p.Pro669Thr) c.*397C>A (n.*397C>A) c.1978C>A (p.Pro660Thr) n.1458C>A c.*393C>A (n.*393C>A) c.2101C>A (p.Pro701Thr) n.2205C>A c.1984C>A (p.Pro662Thr) c.1921C>A (p.Pro641Thr) c.2020C>A (p.Pro674Thr) n.2442C>A c.1909C>A (p.Pro637Thr) n.2422C>A n.2248C>A c.1711C>A (p.Pro571Thr) c.1927C>A (p.Pro643Thr) c.1945C>A (p.Pro649Thr) | dbSNP |
17 | g.42322379A= | CA2260430718 | STAT3 | c.2004T= (p.Ser668=) c.*396T= (n.*396T=) c.1977T= (p.Ser659=) n.1457T= c.*392T= (n.*392T=) c.2100T= (p.Ser700=) n.2204T= c.1983T= (p.Ser661=) c.1920T= (p.Ser640=) c.2019T= (p.Ser673=) n.2441T= c.1908T= (p.Ser636=) n.2421T= n.2247T= c.1710T= (p.Ser570=) c.1926T= (p.Ser642=) c.1944T= (p.Ser648=) | |
17 | g.42322379A>C | CA500061060 | STAT3 | c.2004T>G (p.Ser668=) c.*396T>G (n.*396T>G) c.1977T>G (p.Ser659=) n.1457T>G c.*392T>G (n.*392T>G) c.2100T>G (p.Ser700=) n.2204T>G c.1983T>G (p.Ser661=) c.1920T>G (p.Ser640=) c.2019T>G (p.Ser673=) n.2441T>G c.1908T>G (p.Ser636=) n.2421T>G n.2247T>G c.1710T>G (p.Ser570=) c.1926T>G (p.Ser642=) c.1944T>G (p.Ser648=) | |
17 | g.42322379A>G | CA8575177 | STAT3 | c.2004T>C (p.Ser668=) c.*396T>C (n.*396T>C) c.1977T>C (p.Ser659=) n.1457T>C c.*392T>C (n.*392T>C) c.2100T>C (p.Ser700=) n.2204T>C c.1983T>C (p.Ser661=) c.1920T>C (p.Ser640=) c.2019T>C (p.Ser673=) n.2441T>C c.1908T>C (p.Ser636=) n.2421T>C n.2247T>C c.1710T>C (p.Ser570=) c.1926T>C (p.Ser642=) c.1944T>C (p.Ser648=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42322379A>T | CA500061061 | STAT3 | c.2004T>A (p.Ser668=) c.*396T>A (n.*396T>A) c.1977T>A (p.Ser659=) n.1457T>A c.*392T>A (n.*392T>A) c.2100T>A (p.Ser700=) n.2204T>A c.1983T>A (p.Ser661=) c.1920T>A (p.Ser640=) c.2019T>A (p.Ser673=) n.2441T>A c.1908T>A (p.Ser636=) n.2421T>A n.2247T>A c.1710T>A (p.Ser570=) c.1926T>A (p.Ser642=) c.1944T>A (p.Ser648=) | dbSNP |
17 | g.42322380G>A | CA399581738 | STAT3 | c.2003C>T (p.Ser668Phe) c.*395C>T (n.*395C>T) c.1976C>T (p.Ser659Phe) n.1456C>T c.*391C>T (n.*391C>T) c.2099C>T (p.Ser700Phe) n.2203C>T c.1982C>T (p.Ser661Phe) c.1919C>T (p.Ser640Phe) c.2018C>T (p.Ser673Phe) n.2440C>T c.1907C>T (p.Ser636Phe) n.2420C>T n.2246C>T c.1709C>T (p.Ser570Phe) c.1925C>T (p.Ser642Phe) c.1943C>T (p.Ser648Phe) | dbSNP |
17 | g.42322380G>C | CA399581739 | STAT3 | c.2003C>G (p.Ser668Cys) c.*395C>G (n.*395C>G) c.1976C>G (p.Ser659Cys) n.1456C>G c.*391C>G (n.*391C>G) c.2099C>G (p.Ser700Cys) n.2203C>G c.1982C>G (p.Ser661Cys) c.1919C>G (p.Ser640Cys) c.2018C>G (p.Ser673Cys) n.2440C>G c.1907C>G (p.Ser636Cys) n.2420C>G n.2246C>G c.1709C>G (p.Ser570Cys) c.1925C>G (p.Ser642Cys) c.1943C>G (p.Ser648Cys) | dbSNP |
17 | g.42322380G>T | CA399581741 | STAT3 | c.2003C>A (p.Ser668Tyr) c.*395C>A (n.*395C>A) c.1976C>A (p.Ser659Tyr) n.1456C>A c.*391C>A (n.*391C>A) c.2099C>A (p.Ser700Tyr) n.2203C>A c.1982C>A (p.Ser661Tyr) c.1919C>A (p.Ser640Tyr) c.2018C>A (p.Ser673Tyr) n.2440C>A c.1907C>A (p.Ser636Tyr) n.2420C>A n.2246C>A c.1709C>A (p.Ser570Tyr) c.1925C>A (p.Ser642Tyr) c.1943C>A (p.Ser648Tyr) | |
17 | g.42322381A>C | CA399581745 | STAT3 | c.2002T>G (p.Ser668Ala) c.*394T>G (n.*394T>G) c.1975T>G (p.Ser659Ala) n.1455T>G c.*390T>G (n.*390T>G) c.2098T>G (p.Ser700Ala) n.2202T>G c.1981T>G (p.Ser661Ala) c.1918T>G (p.Ser640Ala) c.2017T>G (p.Ser673Ala) n.2439T>G c.1906T>G (p.Ser636Ala) n.2419T>G n.2245T>G c.1708T>G (p.Ser570Ala) c.1924T>G (p.Ser642Ala) c.1942T>G (p.Ser648Ala) | |
17 | g.42322381A>G | CA399581748 | STAT3 | c.2002T>C (p.Ser668Pro) c.*394T>C (n.*394T>C) c.1975T>C (p.Ser659Pro) n.1455T>C c.*390T>C (n.*390T>C) c.2098T>C (p.Ser700Pro) n.2202T>C c.1981T>C (p.Ser661Pro) c.1918T>C (p.Ser640Pro) c.2017T>C (p.Ser673Pro) n.2439T>C c.1906T>C (p.Ser636Pro) n.2419T>C n.2245T>C c.1708T>C (p.Ser570Pro) c.1924T>C (p.Ser642Pro) c.1942T>C (p.Ser648Pro) | dbSNP |
17 | g.42322381A>T | CA399581751 | STAT3 | c.2002T>A (p.Ser668Thr) c.*394T>A (n.*394T>A) c.1975T>A (p.Ser659Thr) n.1455T>A c.*390T>A (n.*390T>A) c.2098T>A (p.Ser700Thr) n.2202T>A c.1981T>A (p.Ser661Thr) c.1918T>A (p.Ser640Thr) c.2017T>A (p.Ser673Thr) n.2439T>A c.1906T>A (p.Ser636Thr) n.2419T>A n.2245T>A c.1708T>A (p.Ser570Thr) c.1924T>A (p.Ser642Thr) c.1942T>A (p.Ser648Thr) | dbSNP |
17 | g.42322382C>A | CA500061062 | STAT3 | c.2001G>T (p.Val667=) c.*393G>T (n.*393G>T) c.1974G>T (p.Val658=) n.1454G>T c.*389G>T (n.*389G>T) c.2097G>T (p.Val699=) n.2201G>T c.1980G>T (p.Val660=) c.1917G>T (p.Val639=) c.2016G>T (p.Val672=) n.2438G>T c.1905G>T (p.Val635=) n.2418G>T n.2244G>T c.1707G>T (p.Val569=) c.1923G>T (p.Val641=) c.1941G>T (p.Val647=) | |
17 | g.42322382C>G | CA500061065 | STAT3 | c.2001G>C (p.Val667=) c.*393G>C (n.*393G>C) c.1974G>C (p.Val658=) n.1454G>C c.*389G>C (n.*389G>C) c.2097G>C (p.Val699=) n.2201G>C c.1980G>C (p.Val660=) c.1917G>C (p.Val639=) c.2016G>C (p.Val672=) n.2438G>C c.1905G>C (p.Val635=) n.2418G>C n.2244G>C c.1707G>C (p.Val569=) c.1923G>C (p.Val641=) c.1941G>C (p.Val647=) | dbSNP |
17 | g.42322382C>T | CA500061063 | STAT3 | c.2001G>A (p.Val667=) c.*393G>A (n.*393G>A) c.1974G>A (p.Val658=) n.1454G>A c.*389G>A (n.*389G>A) c.2097G>A (p.Val699=) n.2201G>A c.1980G>A (p.Val660=) c.1917G>A (p.Val639=) c.2016G>A (p.Val672=) n.2438G>A c.1905G>A (p.Val635=) n.2418G>A n.2244G>A c.1707G>A (p.Val569=) c.1923G>A (p.Val641=) c.1941G>A (p.Val647=) | dbSNP |
17 | g.42322383A= | CA2260430719 | STAT3 | c.2000T= (p.Val667=) c.*392T= (n.*392T=) c.1973T= (p.Val658=) n.1453T= c.*388T= (n.*388T=) c.2096T= (p.Val699=) n.2200T= c.1979T= (p.Val660=) c.1916T= (p.Val639=) c.2015T= (p.Val672=) n.2437T= c.1904T= (p.Val635=) n.2417T= n.2243T= c.1706T= (p.Val569=) c.1922T= (p.Val641=) c.1940T= (p.Val647=) | |
17 | g.42322383A>C | CA399581753 | STAT3 | c.2000T>G (p.Val667Gly) c.*392T>G (n.*392T>G) c.1973T>G (p.Val658Gly) n.1453T>G c.*388T>G (n.*388T>G) c.2096T>G (p.Val699Gly) n.2200T>G c.1979T>G (p.Val660Gly) c.1916T>G (p.Val639Gly) c.2015T>G (p.Val672Gly) n.2437T>G c.1904T>G (p.Val635Gly) n.2417T>G n.2243T>G c.1706T>G (p.Val569Gly) c.1922T>G (p.Val641Gly) c.1940T>G (p.Val647Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42322383A>G | CA399581755 | STAT3 | c.2000T>C (p.Val667Ala) c.*392T>C (n.*392T>C) c.1973T>C (p.Val658Ala) n.1453T>C c.*388T>C (n.*388T>C) c.2096T>C (p.Val699Ala) n.2200T>C c.1979T>C (p.Val660Ala) c.1916T>C (p.Val639Ala) c.2015T>C (p.Val672Ala) n.2437T>C c.1904T>C (p.Val635Ala) n.2417T>C n.2243T>C c.1706T>C (p.Val569Ala) c.1922T>C (p.Val641Ala) c.1940T>C (p.Val647Ala) | dbSNP |
17 | g.42322383A>T | CA399581758 | STAT3 | c.2000T>A (p.Val667Glu) c.*392T>A (n.*392T>A) c.1973T>A (p.Val658Glu) n.1453T>A c.*388T>A (n.*388T>A) c.2096T>A (p.Val699Glu) n.2200T>A c.1979T>A (p.Val660Glu) c.1916T>A (p.Val639Glu) c.2015T>A (p.Val672Glu) n.2437T>A c.1904T>A (p.Val635Glu) n.2417T>A n.2243T>A c.1706T>A (p.Val569Glu) c.1922T>A (p.Val641Glu) c.1940T>A (p.Val647Glu) | |
17 | g.42322384C>A | CA399581762 | STAT3 | c.1999G>T (p.Val667Leu) c.*391G>T (n.*391G>T) c.1972G>T (p.Val658Leu) n.1452G>T c.*387G>T (n.*387G>T) c.2095G>T (p.Val699Leu) n.2199G>T c.1978G>T (p.Val660Leu) c.1915G>T (p.Val639Leu) c.2014G>T (p.Val672Leu) n.2436G>T c.1903G>T (p.Val635Leu) n.2416G>T n.2242G>T c.1705G>T (p.Val569Leu) c.1921G>T (p.Val641Leu) c.1939G>T (p.Val647Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42322384C= | CA2260430720 | STAT3 | c.1999G= (p.Val667=) c.*391G= (n.*391G=) c.1972G= (p.Val658=) n.1452G= c.*387G= (n.*387G=) c.2095G= (p.Val699=) n.2199G= c.1978G= (p.Val660=) c.1915G= (p.Val639=) c.2014G= (p.Val672=) n.2436G= c.1903G= (p.Val635=) n.2416G= n.2242G= c.1705G= (p.Val569=) c.1921G= (p.Val641=) c.1939G= (p.Val647=) | |
17 | g.42322384C>G | CA399581764 | STAT3 | c.1999G>C (p.Val667Leu) c.*391G>C (n.*391G>C) c.1972G>C (p.Val658Leu) n.1452G>C c.*387G>C (n.*387G>C) c.2095G>C (p.Val699Leu) n.2199G>C c.1978G>C (p.Val660Leu) c.1915G>C (p.Val639Leu) c.2014G>C (p.Val672Leu) n.2436G>C c.1903G>C (p.Val635Leu) n.2416G>C n.2242G>C c.1705G>C (p.Val569Leu) c.1921G>C (p.Val641Leu) c.1939G>C (p.Val647Leu) | dbSNP |
17 | g.42322384C>T | CA399581768 | STAT3 | c.1999G>A (p.Val667Met) c.*391G>A (n.*391G>A) c.1972G>A (p.Val658Met) n.1452G>A c.*387G>A (n.*387G>A) c.2095G>A (p.Val699Met) n.2199G>A c.1978G>A (p.Val660Met) c.1915G>A (p.Val639Met) c.2014G>A (p.Val672Met) n.2436G>A c.1903G>A (p.Val635Met) n.2416G>A n.2242G>A c.1705G>A (p.Val569Met) c.1921G>A (p.Val641Met) c.1939G>A (p.Val647Met) | dbSNP |
17 | g.42322385del | CA2733835225 | STAT3 | c.1999del (p.Val667CysfsTer?) c.*391del (n.*391del) c.1972del (p.Val658CysfsTer?) n.1452del c.*387del (n.*387del) c.2095del (p.Val699CysfsTer?) n.2199del c.1978del (p.Val660CysfsTer?) c.1915del (p.Val639CysfsTer?) c.2014del (p.Val672CysfsTer?) n.2436del c.1903del (p.Val635CysfsTer?) n.2416del n.2242del c.1705del (p.Val569CysfsTer?) c.1921del (p.Val641CysfsTer?) c.1939del (p.Val647CysfsTer?) | dbSNP |
17 | g.42322385C>A | CA500061068 | STAT3 | c.1998G>T (p.Leu666=) c.*390G>T (n.*390G>T) c.1971G>T (p.Leu657=) n.1451G>T c.*386G>T (n.*386G>T) c.2094G>T (p.Leu698=) n.2198G>T c.1977G>T (p.Leu659=) c.1914G>T (p.Leu638=) c.2013G>T (p.Leu671=) n.2435G>T c.1902G>T (p.Leu634=) n.2415G>T n.2241G>T c.1704G>T (p.Leu568=) c.1920G>T (p.Leu640=) c.1938G>T (p.Leu646=) | |
17 | g.42322385C= | CA2260430721 | STAT3 | c.1998G= (p.Leu666=) c.*390G= (n.*390G=) c.1971G= (p.Leu657=) n.1451G= c.*386G= (n.*386G=) c.2094G= (p.Leu698=) n.2198G= c.1977G= (p.Leu659=) c.1914G= (p.Leu638=) c.2013G= (p.Leu671=) n.2435G= c.1902G= (p.Leu634=) n.2415G= n.2241G= c.1704G= (p.Leu568=) c.1920G= (p.Leu640=) c.1938G= (p.Leu646=) | |
17 | g.42322385C>G | CA500061067 | STAT3 | c.1998G>C (p.Leu666=) c.*390G>C (n.*390G>C) c.1971G>C (p.Leu657=) n.1451G>C c.*386G>C (n.*386G>C) c.2094G>C (p.Leu698=) n.2198G>C c.1977G>C (p.Leu659=) c.1914G>C (p.Leu638=) c.2013G>C (p.Leu671=) n.2435G>C c.1902G>C (p.Leu634=) n.2415G>C n.2241G>C c.1704G>C (p.Leu568=) c.1920G>C (p.Leu640=) c.1938G>C (p.Leu646=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42322385C>T | CA500061069 | STAT3 | c.1998G>A (p.Leu666=) c.*390G>A (n.*390G>A) c.1971G>A (p.Leu657=) n.1451G>A c.*386G>A (n.*386G>A) c.2094G>A (p.Leu698=) n.2198G>A c.1977G>A (p.Leu659=) c.1914G>A (p.Leu638=) c.2013G>A (p.Leu671=) n.2435G>A c.1902G>A (p.Leu634=) n.2415G>A n.2241G>A c.1704G>A (p.Leu568=) c.1920G>A (p.Leu640=) c.1938G>A (p.Leu646=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42322386A>C | CA399581770 | STAT3 | c.1997T>G (p.Leu666Arg) c.*389T>G (n.*389T>G) c.1970T>G (p.Leu657Arg) n.1450T>G c.*385T>G (n.*385T>G) c.2093T>G (p.Leu698Arg) n.2197T>G c.1976T>G (p.Leu659Arg) c.1913T>G (p.Leu638Arg) c.2012T>G (p.Leu671Arg) n.2434T>G c.1901T>G (p.Leu634Arg) n.2414T>G n.2240T>G c.1703T>G (p.Leu568Arg) c.1919T>G (p.Leu640Arg) c.1937T>G (p.Leu646Arg) | |
17 | g.42322386A>G | CA399581774 | STAT3 | c.1997T>C (p.Leu666Pro) c.*389T>C (n.*389T>C) c.1970T>C (p.Leu657Pro) n.1450T>C c.*385T>C (n.*385T>C) c.2093T>C (p.Leu698Pro) n.2197T>C c.1976T>C (p.Leu659Pro) c.1913T>C (p.Leu638Pro) c.2012T>C (p.Leu671Pro) n.2434T>C c.1901T>C (p.Leu634Pro) n.2414T>C n.2240T>C c.1703T>C (p.Leu568Pro) c.1919T>C (p.Leu640Pro) c.1937T>C (p.Leu646Pro) | dbSNP |
17 | g.42322386A>T | CA399581771 | STAT3 | c.1997T>A (p.Leu666Gln) c.*389T>A (n.*389T>A) c.1970T>A (p.Leu657Gln) n.1450T>A c.*385T>A (n.*385T>A) c.2093T>A (p.Leu698Gln) n.2197T>A c.1976T>A (p.Leu659Gln) c.1913T>A (p.Leu638Gln) c.2012T>A (p.Leu671Gln) n.2434T>A c.1901T>A (p.Leu634Gln) n.2414T>A n.2240T>A c.1703T>A (p.Leu568Gln) c.1919T>A (p.Leu640Gln) c.1937T>A (p.Leu646Gln) | dbSNP |
17 | g.42322387G>A | CA500061070 | STAT3 | c.1996C>T (p.Leu666=) c.*388C>T (n.*388C>T) c.1969C>T (p.Leu657=) n.1449C>T c.*384C>T (n.*384C>T) c.2092C>T (p.Leu698=) n.2196C>T c.1975C>T (p.Leu659=) c.1912C>T (p.Leu638=) c.2011C>T (p.Leu671=) n.2433C>T c.1900C>T (p.Leu634=) n.2413C>T n.2239C>T c.1702C>T (p.Leu568=) c.1918C>T (p.Leu640=) c.1936C>T (p.Leu646=) | dbSNP |
17 | g.42322387G>C | CA399581776 | STAT3 | c.1996C>G (p.Leu666Val) c.*388C>G (n.*388C>G) c.1969C>G (p.Leu657Val) n.1449C>G c.*384C>G (n.*384C>G) c.2092C>G (p.Leu698Val) n.2196C>G c.1975C>G (p.Leu659Val) c.1912C>G (p.Leu638Val) c.2011C>G (p.Leu671Val) n.2433C>G c.1900C>G (p.Leu634Val) n.2413C>G n.2239C>G c.1702C>G (p.Leu568Val) c.1918C>G (p.Leu640Val) c.1936C>G (p.Leu646Val) | dbSNP |
17 | g.42322387G>T | CA399581777 | STAT3 | c.1996C>A (p.Leu666Met) c.*388C>A (n.*388C>A) c.1969C>A (p.Leu657Met) n.1449C>A c.*384C>A (n.*384C>A) c.2092C>A (p.Leu698Met) n.2196C>A c.1975C>A (p.Leu659Met) c.1912C>A (p.Leu638Met) c.2011C>A (p.Leu671Met) n.2433C>A c.1900C>A (p.Leu634Met) n.2413C>A n.2239C>A c.1702C>A (p.Leu568Met) c.1918C>A (p.Leu640Met) c.1936C>A (p.Leu646Met) | dbSNP COSMIC |
17 | g.42322388G>A | CA500061072 | STAT3 | c.1995C>T (p.Ile665=) c.*387C>T (n.*387C>T) c.1968C>T (p.Ile656=) n.1448C>T c.*383C>T (n.*383C>T) c.2091C>T (p.Ile697=) n.2195C>T c.1974C>T (p.Ile658=) c.1911C>T (p.Ile637=) c.2010C>T (p.Ile670=) n.2432C>T c.1899C>T (p.Ile633=) n.2412C>T n.2238C>T c.1701C>T (p.Ile567=) c.1917C>T (p.Ile639=) c.1935C>T (p.Ile645=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42322388G>C | CA399581779 | STAT3 | c.1995C>G (p.Ile665Met) c.*387C>G (n.*387C>G) c.1968C>G (p.Ile656Met) n.1448C>G c.*383C>G (n.*383C>G) c.2091C>G (p.Ile697Met) n.2195C>G c.1974C>G (p.Ile658Met) c.1911C>G (p.Ile637Met) c.2010C>G (p.Ile670Met) n.2432C>G c.1899C>G (p.Ile633Met) n.2412C>G n.2238C>G c.1701C>G (p.Ile567Met) c.1917C>G (p.Ile639Met) c.1935C>G (p.Ile645Met) | dbSNP |
17 | g.42322388G= | CA2260430722 | STAT3 | c.1995C= (p.Ile665=) c.*387C= (n.*387C=) c.1968C= (p.Ile656=) n.1448C= c.*383C= (n.*383C=) c.2091C= (p.Ile697=) n.2195C= c.1974C= (p.Ile658=) c.1911C= (p.Ile637=) c.2010C= (p.Ile670=) n.2432C= c.1899C= (p.Ile633=) n.2412C= n.2238C= c.1701C= (p.Ile567=) c.1917C= (p.Ile639=) c.1935C= (p.Ile645=) | |
17 | g.42322388G>T | CA500061071 | STAT3 | c.1995C>A (p.Ile665=) c.*387C>A (n.*387C>A) c.1968C>A (p.Ile656=) n.1448C>A c.*383C>A (n.*383C>A) c.2091C>A (p.Ile697=) n.2195C>A c.1974C>A (p.Ile658=) c.1911C>A (p.Ile637=) c.2010C>A (p.Ile670=) n.2432C>A c.1899C>A (p.Ile633=) n.2412C>A n.2238C>A c.1701C>A (p.Ile567=) c.1917C>A (p.Ile639=) c.1935C>A (p.Ile645=) | dbSNP |
17 | g.42322389A>C | CA399581784 | STAT3 | c.1994T>G (p.Ile665Ser) c.*386T>G (n.*386T>G) c.1967T>G (p.Ile656Ser) n.1447T>G c.*382T>G (n.*382T>G) c.2090T>G (p.Ile697Ser) n.2194T>G c.1973T>G (p.Ile658Ser) c.1910T>G (p.Ile637Ser) c.2009T>G (p.Ile670Ser) n.2431T>G c.1898T>G (p.Ile633Ser) n.2411T>G n.2237T>G c.1700T>G (p.Ile567Ser) c.1916T>G (p.Ile639Ser) c.1934T>G (p.Ile645Ser) | |
17 | g.42322389A>G | CA399581786 | STAT3 | c.1994T>C (p.Ile665Thr) c.*386T>C (n.*386T>C) c.1967T>C (p.Ile656Thr) n.1447T>C c.*382T>C (n.*382T>C) c.2090T>C (p.Ile697Thr) n.2194T>C c.1973T>C (p.Ile658Thr) c.1910T>C (p.Ile637Thr) c.2009T>C (p.Ile670Thr) n.2431T>C c.1898T>C (p.Ile633Thr) n.2411T>C n.2237T>C c.1700T>C (p.Ile567Thr) c.1916T>C (p.Ile639Thr) c.1934T>C (p.Ile645Thr) | dbSNP |
17 | g.42322389A>T | CA399581787 | STAT3 | c.1994T>A (p.Ile665Asn) c.*386T>A (n.*386T>A) c.1967T>A (p.Ile656Asn) n.1447T>A c.*382T>A (n.*382T>A) c.2090T>A (p.Ile697Asn) n.2194T>A c.1973T>A (p.Ile658Asn) c.1910T>A (p.Ile637Asn) c.2009T>A (p.Ile670Asn) n.2431T>A c.1898T>A (p.Ile633Asn) n.2411T>A n.2237T>A c.1700T>A (p.Ile567Asn) c.1916T>A (p.Ile639Asn) c.1934T>A (p.Ile645Asn) | |
17 | g.42322390T>A | CA399581788 | STAT3 | c.1993A>T (p.Ile665Phe) c.*385A>T (n.*385A>T) c.1966A>T (p.Ile656Phe) n.1446A>T c.*381A>T (n.*381A>T) c.2089A>T (p.Ile697Phe) n.2193A>T c.1972A>T (p.Ile658Phe) c.1909A>T (p.Ile637Phe) c.2008A>T (p.Ile670Phe) n.2430A>T c.1897A>T (p.Ile633Phe) n.2410A>T n.2236A>T c.1699A>T (p.Ile567Phe) c.1915A>T (p.Ile639Phe) c.1933A>T (p.Ile645Phe) | ClinVar dbSNP |
17 | g.42322390T>C | CA399581789 | STAT3 | c.1993A>G (p.Ile665Val) c.*385A>G (n.*385A>G) c.1966A>G (p.Ile656Val) n.1446A>G c.*381A>G (n.*381A>G) c.2089A>G (p.Ile697Val) n.2193A>G c.1972A>G (p.Ile658Val) c.1909A>G (p.Ile637Val) c.2008A>G (p.Ile670Val) n.2430A>G c.1897A>G (p.Ile633Val) n.2410A>G n.2236A>G c.1699A>G (p.Ile567Val) c.1915A>G (p.Ile639Val) c.1933A>G (p.Ile645Val) | |
17 | g.42322390T>G | CA399581791 | STAT3 | c.1993A>C (p.Ile665Leu) c.*385A>C (n.*385A>C) c.1966A>C (p.Ile656Leu) n.1446A>C c.*381A>C (n.*381A>C) c.2089A>C (p.Ile697Leu) n.2193A>C c.1972A>C (p.Ile658Leu) c.1909A>C (p.Ile637Leu) c.2008A>C (p.Ile670Leu) n.2430A>C c.1897A>C (p.Ile633Leu) n.2410A>C n.2236A>C c.1699A>C (p.Ile567Leu) c.1915A>C (p.Ile639Leu) c.1933A>C (p.Ile645Leu) | dbSNP |
17 | g.42322390T= | CA2260430723 | STAT3 | c.1993A= (p.Ile665=) c.*385A= (n.*385A=) c.1966A= (p.Ile656=) n.1446A= c.*381A= (n.*381A=) c.2089A= (p.Ile697=) n.2193A= c.1972A= (p.Ile658=) c.1909A= (p.Ile637=) c.2008A= (p.Ile670=) n.2430A= c.1897A= (p.Ile633=) n.2410A= n.2236A= c.1699A= (p.Ile567=) c.1915A= (p.Ile639=) c.1933A= (p.Ile645=) | |
17 | g.42322391A>C | CA399581792 | STAT3 | c.1992T>G (p.Asn664Lys) c.*384T>G (n.*384T>G) c.1965T>G (p.Asn655Lys) n.1445T>G c.*380T>G (n.*380T>G) c.2088T>G (p.Asn696Lys) n.2192T>G c.1971T>G (p.Asn657Lys) c.1908T>G (p.Asn636Lys) c.2007T>G (p.Asn669Lys) n.2429T>G c.1896T>G (p.Asn632Lys) n.2409T>G n.2235T>G c.1698T>G (p.Asn566Lys) c.1914T>G (p.Asn638Lys) c.1932T>G (p.Asn644Lys) | |
17 | g.42322391A>G | CA500061074 | STAT3 | c.1992T>C (p.Asn664=) c.*384T>C (n.*384T>C) c.1965T>C (p.Asn655=) n.1445T>C c.*380T>C (n.*380T>C) c.2088T>C (p.Asn696=) n.2192T>C c.1971T>C (p.Asn657=) c.1908T>C (p.Asn636=) c.2007T>C (p.Asn669=) n.2429T>C c.1896T>C (p.Asn632=) n.2409T>C n.2235T>C c.1698T>C (p.Asn566=) c.1914T>C (p.Asn638=) c.1932T>C (p.Asn644=) | gnomAD v4 COSMIC |
17 | g.42322391A>T | CA399581793 | STAT3 | c.1992T>A (p.Asn664Lys) c.*384T>A (n.*384T>A) c.1965T>A (p.Asn655Lys) n.1445T>A c.*380T>A (n.*380T>A) c.2088T>A (p.Asn696Lys) n.2192T>A c.1971T>A (p.Asn657Lys) c.1908T>A (p.Asn636Lys) c.2007T>A (p.Asn669Lys) n.2429T>A c.1896T>A (p.Asn632Lys) n.2409T>A n.2235T>A c.1698T>A (p.Asn566Lys) c.1914T>A (p.Asn638Lys) c.1932T>A (p.Asn644Lys) | dbSNP |
17 | g.42322392T>A | CA399581794 | STAT3 | c.1991A>T (p.Asn664Ile) c.*383A>T (n.*383A>T) c.1964A>T (p.Asn655Ile) n.1444A>T c.*379A>T (n.*379A>T) c.2087A>T (p.Asn696Ile) n.2191A>T c.1970A>T (p.Asn657Ile) c.1907A>T (p.Asn636Ile) c.2006A>T (p.Asn669Ile) n.2428A>T c.1895A>T (p.Asn632Ile) n.2408A>T n.2234A>T c.1697A>T (p.Asn566Ile) c.1913A>T (p.Asn638Ile) c.1931A>T (p.Asn644Ile) | dbSNP |
17 | g.42322392T>C | CA399581795 | STAT3 | c.1991A>G (p.Asn664Ser) c.*383A>G (n.*383A>G) c.1964A>G (p.Asn655Ser) n.1444A>G c.*379A>G (n.*379A>G) c.2087A>G (p.Asn696Ser) n.2191A>G c.1970A>G (p.Asn657Ser) c.1907A>G (p.Asn636Ser) c.2006A>G (p.Asn669Ser) n.2428A>G c.1895A>G (p.Asn632Ser) n.2408A>G n.2234A>G c.1697A>G (p.Asn566Ser) c.1913A>G (p.Asn638Ser) c.1931A>G (p.Asn644Ser) | |
17 | g.42322392T>G | CA399581796 | STAT3 | c.1991A>C (p.Asn664Thr) c.*383A>C (n.*383A>C) c.1964A>C (p.Asn655Thr) n.1444A>C c.*379A>C (n.*379A>C) c.2087A>C (p.Asn696Thr) n.2191A>C c.1970A>C (p.Asn657Thr) c.1907A>C (p.Asn636Thr) c.2006A>C (p.Asn669Thr) n.2428A>C c.1895A>C (p.Asn632Thr) n.2408A>C n.2234A>C c.1697A>C (p.Asn566Thr) c.1913A>C (p.Asn638Thr) c.1931A>C (p.Asn644Thr) | |
17 | g.42322393T>A | CA399581803 | STAT3 | c.1990A>T (p.Asn664Tyr) c.*382A>T (n.*382A>T) c.1963A>T (p.Asn655Tyr) n.1443A>T c.*378A>T (n.*378A>T) c.2086A>T (p.Asn696Tyr) n.2190A>T c.1969A>T (p.Asn657Tyr) c.1906A>T (p.Asn636Tyr) c.2005A>T (p.Asn669Tyr) n.2427A>T c.1894A>T (p.Asn632Tyr) n.2407A>T n.2233A>T c.1696A>T (p.Asn566Tyr) c.1912A>T (p.Asn638Tyr) c.1930A>T (p.Asn644Tyr) | |
17 | g.42322393T>C | CA399581798 | STAT3 | c.1990A>G (p.Asn664Asp) c.*382A>G (n.*382A>G) c.1963A>G (p.Asn655Asp) n.1443A>G c.*378A>G (n.*378A>G) c.2086A>G (p.Asn696Asp) n.2190A>G c.1969A>G (p.Asn657Asp) c.1906A>G (p.Asn636Asp) c.2005A>G (p.Asn669Asp) n.2427A>G c.1894A>G (p.Asn632Asp) n.2407A>G n.2233A>G c.1696A>G (p.Asn566Asp) c.1912A>G (p.Asn638Asp) c.1930A>G (p.Asn644Asp) | |
17 | g.42322393T>G | CA399581801 | STAT3 | c.1990A>C (p.Asn664His) c.*382A>C (n.*382A>C) c.1963A>C (p.Asn655His) n.1443A>C c.*378A>C (n.*378A>C) c.2086A>C (p.Asn696His) n.2190A>C c.1969A>C (p.Asn657His) c.1906A>C (p.Asn636His) c.2005A>C (p.Asn669His) n.2427A>C c.1894A>C (p.Asn632His) n.2407A>C n.2233A>C c.1696A>C (p.Asn566His) c.1912A>C (p.Asn638His) c.1930A>C (p.Asn644His) | |
17 | g.42322394G>A | CA500061075 | STAT3 | c.1989C>T (p.Thr663=) c.*381C>T (n.*381C>T) c.1962C>T (p.Thr654=) n.1442C>T c.*377C>T (n.*377C>T) c.2085C>T (p.Thr695=) n.2189C>T c.1968C>T (p.Thr656=) c.1905C>T (p.Thr635=) c.2004C>T (p.Thr668=) n.2426C>T c.1893C>T (p.Thr631=) n.2406C>T n.2232C>T c.1695C>T (p.Thr565=) c.1911C>T (p.Thr637=) c.1929C>T (p.Thr643=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42322394G>C | CA500061077 | STAT3 | c.1989C>G (p.Thr663=) c.*381C>G (n.*381C>G) c.1962C>G (p.Thr654=) n.1442C>G c.*377C>G (n.*377C>G) c.2085C>G (p.Thr695=) n.2189C>G c.1968C>G (p.Thr656=) c.1905C>G (p.Thr635=) c.2004C>G (p.Thr668=) n.2426C>G c.1893C>G (p.Thr631=) n.2406C>G n.2232C>G c.1695C>G (p.Thr565=) c.1911C>G (p.Thr637=) c.1929C>G (p.Thr643=) | dbSNP |
17 | g.42322394G= | CA2260430724 | STAT3 | c.1989C= (p.Thr663=) c.*381C= (n.*381C=) c.1962C= (p.Thr654=) n.1442C= c.*377C= (n.*377C=) c.2085C= (p.Thr695=) n.2189C= c.1968C= (p.Thr656=) c.1905C= (p.Thr635=) c.2004C= (p.Thr668=) n.2426C= c.1893C= (p.Thr631=) n.2406C= n.2232C= c.1695C= (p.Thr565=) c.1911C= (p.Thr637=) c.1929C= (p.Thr643=) | |
17 | g.42322394G>T | CA500061076 | STAT3 | c.1989C>A (p.Thr663=) c.*381C>A (n.*381C>A) c.1962C>A (p.Thr654=) n.1442C>A c.*377C>A (n.*377C>A) c.2085C>A (p.Thr695=) n.2189C>A c.1968C>A (p.Thr656=) c.1905C>A (p.Thr635=) c.2004C>A (p.Thr668=) n.2426C>A c.1893C>A (p.Thr631=) n.2406C>A n.2232C>A c.1695C>A (p.Thr565=) c.1911C>A (p.Thr637=) c.1929C>A (p.Thr643=) | dbSNP gnomAD v4 |
17 | g.42322394_42322395delinsAA | CA645589633 | STAT3 | c.1988_1989delinsTT (p.Thr663Ile) c.*380_*381delinsTT (n.*380_*381delinsTT) c.1961_1962delinsTT (p.Thr654Ile) n.1441_1442delinsTT c.*376_*377delinsTT (n.*376_*377delinsTT) c.2084_2085delinsTT (p.Thr695Ile) n.2188_2189delinsTT c.1967_1968delinsTT (p.Thr656Ile) c.1904_1905delinsTT (p.Thr635Ile) c.2003_2004delinsTT (p.Thr668Ile) n.2425_2426delinsTT c.1892_1893delinsTT (p.Thr631Ile) n.2405_2406delinsTT n.2231_2232delinsTT c.1694_1695delinsTT (p.Thr565Ile) c.1910_1911delinsTT (p.Thr637Ile) c.1928_1929delinsTT (p.Thr643Ile) | COSMIC |
17 | g.42322395del | CA2733835544 | STAT3 | c.1989del (p.Asn664IlefsTer?) c.*381del (n.*381del) c.1962del (p.Asn655IlefsTer?) n.1442del c.*377del (n.*377del) c.2085del (p.Asn696IlefsTer?) n.2189del c.1968del (p.Asn657IlefsTer?) c.1905del (p.Asn636IlefsTer?) c.2004del (p.Asn669IlefsTer?) n.2426del c.1893del (p.Asn632IlefsTer?) n.2406del n.2232del c.1695del (p.Asn566IlefsTer?) c.1911del (p.Asn638IlefsTer?) c.1929del (p.Asn644IlefsTer?) | dbSNP |
17 | g.42322395G>A | CA357959 | STAT3 | c.1988C>T (p.Thr663Ile) c.*380C>T (n.*380C>T) c.1961C>T (p.Thr654Ile) n.1441C>T c.*376C>T (n.*376C>T) c.2084C>T (p.Thr695Ile) n.2188C>T c.1967C>T (p.Thr656Ile) c.1904C>T (p.Thr635Ile) c.2003C>T (p.Thr668Ile) n.2425C>T c.1892C>T (p.Thr631Ile) n.2405C>T n.2231C>T c.1694C>T (p.Thr565Ile) c.1910C>T (p.Thr637Ile) c.1928C>T (p.Thr643Ile) | ClinVar dbSNP |
17 | g.42322395G>C | CA399581808 | STAT3 | c.1988C>G (p.Thr663Ser) c.*380C>G (n.*380C>G) c.1961C>G (p.Thr654Ser) n.1441C>G c.*376C>G (n.*376C>G) c.2084C>G (p.Thr695Ser) n.2188C>G c.1967C>G (p.Thr656Ser) c.1904C>G (p.Thr635Ser) c.2003C>G (p.Thr668Ser) n.2425C>G c.1892C>G (p.Thr631Ser) n.2405C>G n.2231C>G c.1694C>G (p.Thr565Ser) c.1910C>G (p.Thr637Ser) c.1928C>G (p.Thr643Ser) | dbSNP |
17 | g.42322395G= | CA2260430725 | STAT3 | c.1988C= (p.Thr663=) c.*380C= (n.*380C=) c.1961C= (p.Thr654=) n.1441C= c.*376C= (n.*376C=) c.2084C= (p.Thr695=) n.2188C= c.1967C= (p.Thr656=) c.1904C= (p.Thr635=) c.2003C= (p.Thr668=) n.2425C= c.1892C= (p.Thr631=) n.2405C= n.2231C= c.1694C= (p.Thr565=) c.1910C= (p.Thr637=) c.1928C= (p.Thr643=) | |
17 | g.42322395G>T | CA399581811 | STAT3 | c.1988C>A (p.Thr663Asn) c.*380C>A (n.*380C>A) c.1961C>A (p.Thr654Asn) n.1441C>A c.*376C>A (n.*376C>A) c.2084C>A (p.Thr695Asn) n.2188C>A c.1967C>A (p.Thr656Asn) c.1904C>A (p.Thr635Asn) c.2003C>A (p.Thr668Asn) n.2425C>A c.1892C>A (p.Thr631Asn) n.2405C>A n.2231C>A c.1694C>A (p.Thr565Asn) c.1910C>A (p.Thr637Asn) c.1928C>A (p.Thr643Asn) | dbSNP |
17 | g.42322395_42322396delinsAG | CA2740095340 | STAT3 | c.1987_1988delinsCT (p.Thr663Leu) c.*379_*380delinsCT (n.*379_*380delinsCT) c.1960_1961delinsCT (p.Thr654Leu) n.1440_1441delinsCT c.*375_*376delinsCT (n.*375_*376delinsCT) c.2083_2084delinsCT (p.Thr695Leu) n.2187_2188delinsCT c.1966_1967delinsCT (p.Thr656Leu) c.1903_1904delinsCT (p.Thr635Leu) c.2002_2003delinsCT (p.Thr668Leu) n.2424_2425delinsCT c.1891_1892delinsCT (p.Thr631Leu) n.2404_2405delinsCT n.2230_2231delinsCT c.1693_1694delinsCT (p.Thr565Leu) c.1909_1910delinsCT (p.Thr637Leu) c.1927_1928delinsCT (p.Thr643Leu) | ClinVar |
17 | g.42322396T>A | CA399581817 | STAT3 | c.1987A>T (p.Thr663Ser) c.*379A>T (n.*379A>T) c.1960A>T (p.Thr654Ser) n.1440A>T c.*375A>T (n.*375A>T) c.2083A>T (p.Thr695Ser) n.2187A>T c.1966A>T (p.Thr656Ser) c.1903A>T (p.Thr635Ser) c.2002A>T (p.Thr668Ser) n.2424A>T c.1891A>T (p.Thr631Ser) n.2404A>T n.2230A>T c.1693A>T (p.Thr565Ser) c.1909A>T (p.Thr637Ser) c.1927A>T (p.Thr643Ser) | dbSNP |
17 | g.42322396T>C | CA399581820 | STAT3 | c.1987A>G (p.Thr663Ala) c.*379A>G (n.*379A>G) c.1960A>G (p.Thr654Ala) n.1440A>G c.*375A>G (n.*375A>G) c.2083A>G (p.Thr695Ala) n.2187A>G c.1966A>G (p.Thr656Ala) c.1903A>G (p.Thr635Ala) c.2002A>G (p.Thr668Ala) n.2424A>G c.1891A>G (p.Thr631Ala) n.2404A>G n.2230A>G c.1693A>G (p.Thr565Ala) c.1909A>G (p.Thr637Ala) c.1927A>G (p.Thr643Ala) | |
17 | g.42322396T>G | CA399581822 | STAT3 | c.1987A>C (p.Thr663Pro) c.*379A>C (n.*379A>C) c.1960A>C (p.Thr654Pro) n.1440A>C c.*375A>C (n.*375A>C) c.2083A>C (p.Thr695Pro) n.2187A>C c.1966A>C (p.Thr656Pro) c.1903A>C (p.Thr635Pro) c.2002A>C (p.Thr668Pro) n.2424A>C c.1891A>C (p.Thr631Pro) n.2404A>C n.2230A>C c.1693A>C (p.Thr565Pro) c.1909A>C (p.Thr637Pro) c.1927A>C (p.Thr643Pro) | dbSNP |
17 | g.42322397A>C | CA500061080 | STAT3 | c.1986T>G (p.Ala662=) c.*378T>G (n.*378T>G) c.1959T>G (p.Ala653=) n.1439T>G c.*374T>G (n.*374T>G) c.2082T>G (p.Ala694=) n.2186T>G c.1965T>G (p.Ala655=) c.1902T>G (p.Ala634=) c.2001T>G (p.Ala667=) n.2423T>G c.1890T>G (p.Ala630=) n.2403T>G n.2229T>G c.1692T>G (p.Ala564=) c.1908T>G (p.Ala636=) c.1926T>G (p.Ala642=) | COSMIC |
17 | g.42322397A>G | CA500061078 | STAT3 | c.1986T>C (p.Ala662=) c.*378T>C (n.*378T>C) c.1959T>C (p.Ala653=) n.1439T>C c.*374T>C (n.*374T>C) c.2082T>C (p.Ala694=) n.2186T>C c.1965T>C (p.Ala655=) c.1902T>C (p.Ala634=) c.2001T>C (p.Ala667=) n.2423T>C c.1890T>C (p.Ala630=) n.2403T>C n.2229T>C c.1692T>C (p.Ala564=) c.1908T>C (p.Ala636=) c.1926T>C (p.Ala642=) | dbSNP |
17 | g.42322397A>T | CA500061079 | STAT3 | c.1986T>A (p.Ala662=) c.*378T>A (n.*378T>A) c.1959T>A (p.Ala653=) n.1439T>A c.*374T>A (n.*374T>A) c.2082T>A (p.Ala694=) n.2186T>A c.1965T>A (p.Ala655=) c.1902T>A (p.Ala634=) c.2001T>A (p.Ala667=) n.2423T>A c.1890T>A (p.Ala630=) n.2403T>A n.2229T>A c.1692T>A (p.Ala564=) c.1908T>A (p.Ala636=) c.1926T>A (p.Ala642=) | dbSNP |
17 | g.42322398G>A | CA399581827 | STAT3 | c.1985C>T (p.Ala662Val) c.*377C>T (n.*377C>T) c.1958C>T (p.Ala653Val) n.1438C>T c.*373C>T (n.*373C>T) c.2081C>T (p.Ala694Val) n.2185C>T c.1964C>T (p.Ala655Val) c.1901C>T (p.Ala634Val) c.2000C>T (p.Ala667Val) n.2422C>T c.1889C>T (p.Ala630Val) n.2402C>T n.2228C>T c.1691C>T (p.Ala564Val) c.1907C>T (p.Ala636Val) c.1925C>T (p.Ala642Val) | dbSNP |
17 | g.42322398G>C | CA399581829 | STAT3 | c.1985C>G (p.Ala662Gly) c.*377C>G (n.*377C>G) c.1958C>G (p.Ala653Gly) n.1438C>G c.*373C>G (n.*373C>G) c.2081C>G (p.Ala694Gly) n.2185C>G c.1964C>G (p.Ala655Gly) c.1901C>G (p.Ala634Gly) c.2000C>G (p.Ala667Gly) n.2422C>G c.1889C>G (p.Ala630Gly) n.2402C>G n.2228C>G c.1691C>G (p.Ala564Gly) c.1907C>G (p.Ala636Gly) c.1925C>G (p.Ala642Gly) | dbSNP |
17 | g.42322398G>T | CA399581832 | STAT3 | c.1985C>A (p.Ala662Asp) c.*377C>A (n.*377C>A) c.1958C>A (p.Ala653Asp) n.1438C>A c.*373C>A (n.*373C>A) c.2081C>A (p.Ala694Asp) n.2185C>A c.1964C>A (p.Ala655Asp) c.1901C>A (p.Ala634Asp) c.2000C>A (p.Ala667Asp) n.2422C>A c.1889C>A (p.Ala630Asp) n.2402C>A n.2228C>A c.1691C>A (p.Ala564Asp) c.1907C>A (p.Ala636Asp) c.1925C>A (p.Ala642Asp) | |
17 | g.42322399C>A | CA399581848 | STAT3 | c.1984G>T (p.Ala662Ser) c.*376G>T (n.*376G>T) c.1957G>T (p.Ala653Ser) n.1437G>T c.*372G>T (n.*372G>T) c.2080G>T (p.Ala694Ser) n.2184G>T c.1963G>T (p.Ala655Ser) c.1900G>T (p.Ala634Ser) c.1999G>T (p.Ala667Ser) n.2421G>T c.1888G>T (p.Ala630Ser) n.2401G>T n.2227G>T c.1690G>T (p.Ala564Ser) c.1906G>T (p.Ala636Ser) c.1924G>T (p.Ala642Ser) | dbSNP |
17 | g.42322399C>G | CA399581855 | STAT3 | c.1984G>C (p.Ala662Pro) c.*376G>C (n.*376G>C) c.1957G>C (p.Ala653Pro) n.1437G>C c.*372G>C (n.*372G>C) c.2080G>C (p.Ala694Pro) n.2184G>C c.1963G>C (p.Ala655Pro) c.1900G>C (p.Ala634Pro) c.1999G>C (p.Ala667Pro) n.2421G>C c.1888G>C (p.Ala630Pro) n.2401G>C n.2227G>C c.1690G>C (p.Ala564Pro) c.1906G>C (p.Ala636Pro) c.1924G>C (p.Ala642Pro) | dbSNP |
17 | g.42322399C>T | CA399581857 | STAT3 | c.1984G>A (p.Ala662Thr) c.*376G>A (n.*376G>A) c.1957G>A (p.Ala653Thr) n.1437G>A c.*372G>A (n.*372G>A) c.2080G>A (p.Ala694Thr) n.2184G>A c.1963G>A (p.Ala655Thr) c.1900G>A (p.Ala634Thr) c.1999G>A (p.Ala667Thr) n.2421G>A c.1888G>A (p.Ala630Thr) n.2401G>A n.2227G>A c.1690G>A (p.Ala564Thr) c.1906G>A (p.Ala636Thr) c.1924G>A (p.Ala642Thr) | ClinVar dbSNP |
17 | g.42322400A= | CA2260430726 | STAT3 | c.1983T= (p.Asp661=) c.*375T= (n.*375T=) c.1956T= (p.Asp652=) n.1436T= c.*371T= (n.*371T=) c.2079T= (p.Asp693=) n.2183T= c.1962T= (p.Asp654=) c.1899T= (p.Asp633=) c.1998T= (p.Asp666=) n.2420T= c.1887T= (p.Asp629=) n.2400T= n.2226T= c.1689T= (p.Asp563=) c.1905T= (p.Asp635=) c.1923T= (p.Asp641=) | |
17 | g.42322400A>C | CA399581860 | STAT3 | c.1983T>G (p.Asp661Glu) c.*375T>G (n.*375T>G) c.1956T>G (p.Asp652Glu) n.1436T>G c.*371T>G (n.*371T>G) c.2079T>G (p.Asp693Glu) n.2183T>G c.1962T>G (p.Asp654Glu) c.1899T>G (p.Asp633Glu) c.1998T>G (p.Asp666Glu) n.2420T>G c.1887T>G (p.Asp629Glu) n.2400T>G n.2226T>G c.1689T>G (p.Asp563Glu) c.1905T>G (p.Asp635Glu) c.1923T>G (p.Asp641Glu) | |
17 | g.42322400A>G | CA290732193 | STAT3 | c.1983T>C (p.Asp661=) c.*375T>C (n.*375T>C) c.1956T>C (p.Asp652=) n.1436T>C c.*371T>C (n.*371T>C) c.2079T>C (p.Asp693=) n.2183T>C c.1962T>C (p.Asp654=) c.1899T>C (p.Asp633=) c.1998T>C (p.Asp666=) n.2420T>C c.1887T>C (p.Asp629=) n.2400T>C n.2226T>C c.1689T>C (p.Asp563=) c.1905T>C (p.Asp635=) c.1923T>C (p.Asp641=) | dbSNP |
17 | g.42322400A>T | CA399581863 | STAT3 | c.1983T>A (p.Asp661Glu) c.*375T>A (n.*375T>A) c.1956T>A (p.Asp652Glu) n.1436T>A c.*371T>A (n.*371T>A) c.2079T>A (p.Asp693Glu) n.2183T>A c.1962T>A (p.Asp654Glu) c.1899T>A (p.Asp633Glu) c.1998T>A (p.Asp666Glu) n.2420T>A c.1887T>A (p.Asp629Glu) n.2400T>A n.2226T>A c.1689T>A (p.Asp563Glu) c.1905T>A (p.Asp635Glu) c.1923T>A (p.Asp641Glu) | dbSNP |
17 | g.42322401T>A | CA399581866 | STAT3 | c.1982A>T (p.Asp661Val) c.*374A>T (n.*374A>T) c.1955A>T (p.Asp652Val) n.1435A>T c.*370A>T (n.*370A>T) c.2078A>T (p.Asp693Val) n.2182A>T c.1961A>T (p.Asp654Val) c.1898A>T (p.Asp633Val) c.1997A>T (p.Asp666Val) n.2419A>T c.1886A>T (p.Asp629Val) n.2399A>T n.2225A>T c.1688A>T (p.Asp563Val) c.1904A>T (p.Asp635Val) c.1922A>T (p.Asp641Val) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.42322401T>C | CA399581870 | STAT3 | c.1982A>G (p.Asp661Gly) c.*374A>G (n.*374A>G) c.1955A>G (p.Asp652Gly) n.1435A>G c.*370A>G (n.*370A>G) c.2078A>G (p.Asp693Gly) n.2182A>G c.1961A>G (p.Asp654Gly) c.1898A>G (p.Asp633Gly) c.1997A>G (p.Asp666Gly) n.2419A>G c.1886A>G (p.Asp629Gly) n.2399A>G n.2225A>G c.1688A>G (p.Asp563Gly) c.1904A>G (p.Asp635Gly) c.1922A>G (p.Asp641Gly) | dbSNP |
17 | g.42322401T>G | CA399581880 | STAT3 | c.1982A>C (p.Asp661Ala) c.*374A>C (n.*374A>C) c.1955A>C (p.Asp652Ala) n.1435A>C c.*370A>C (n.*370A>C) c.2078A>C (p.Asp693Ala) n.2182A>C c.1961A>C (p.Asp654Ala) c.1898A>C (p.Asp633Ala) c.1997A>C (p.Asp666Ala) n.2419A>C c.1886A>C (p.Asp629Ala) n.2399A>C n.2225A>C c.1688A>C (p.Asp563Ala) c.1904A>C (p.Asp635Ala) c.1922A>C (p.Asp641Ala) | |
17 | g.42322401T= | CA2260430727 | STAT3 | c.1982A= (p.Asp661=) c.*374A= (n.*374A=) c.1955A= (p.Asp652=) n.1435A= c.*370A= (n.*370A=) c.2078A= (p.Asp693=) n.2182A= c.1961A= (p.Asp654=) c.1898A= (p.Asp633=) c.1997A= (p.Asp666=) n.2419A= c.1886A= (p.Asp629=) n.2399A= n.2225A= c.1688A= (p.Asp563=) c.1904A= (p.Asp635=) c.1922A= (p.Asp641=) | |
17 | g.42322402C>A | CA8575178 | STAT3 | c.1981G>T (p.Asp661Tyr) c.*373G>T (n.*373G>T) c.1954G>T (p.Asp652Tyr) n.1434G>T c.*369G>T (n.*369G>T) c.2077G>T (p.Asp693Tyr) n.2181G>T c.1960G>T (p.Asp654Tyr) c.1897G>T (p.Asp633Tyr) c.1996G>T (p.Asp666Tyr) n.2418G>T c.1885G>T (p.Asp629Tyr) n.2398G>T n.2224G>T c.1687G>T (p.Asp563Tyr) c.1903G>T (p.Asp635Tyr) c.1921G>T (p.Asp641Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42322402C= | CA2260430728 | STAT3 | c.1981G= (p.Asp661=) c.*373G= (n.*373G=) c.1954G= (p.Asp652=) n.1434G= c.*369G= (n.*369G=) c.2077G= (p.Asp693=) n.2181G= c.1960G= (p.Asp654=) c.1897G= (p.Asp633=) c.1996G= (p.Asp666=) n.2418G= c.1885G= (p.Asp629=) n.2398G= n.2224G= c.1687G= (p.Asp563=) c.1903G= (p.Asp635=) c.1921G= (p.Asp641=) | |
17 | g.42322402C>G | CA399581896 | STAT3 | c.1981G>C (p.Asp661His) c.*373G>C (n.*373G>C) c.1954G>C (p.Asp652His) n.1434G>C c.*369G>C (n.*369G>C) c.2077G>C (p.Asp693His) n.2181G>C c.1960G>C (p.Asp654His) c.1897G>C (p.Asp633His) c.1996G>C (p.Asp666His) n.2418G>C c.1885G>C (p.Asp629His) n.2398G>C n.2224G>C c.1687G>C (p.Asp563His) c.1903G>C (p.Asp635His) c.1921G>C (p.Asp641His) | dbSNP COSMIC |
17 | g.42322402C>T | CA399581901 | STAT3 | c.1981G>A (p.Asp661Asn) c.*373G>A (n.*373G>A) c.1954G>A (p.Asp652Asn) n.1434G>A c.*369G>A (n.*369G>A) c.2077G>A (p.Asp693Asn) n.2181G>A c.1960G>A (p.Asp654Asn) c.1897G>A (p.Asp633Asn) c.1996G>A (p.Asp666Asn) n.2418G>A c.1885G>A (p.Asp629Asn) n.2398G>A n.2224G>A c.1687G>A (p.Asp563Asn) c.1903G>A (p.Asp635Asn) c.1921G>A (p.Asp641Asn) | dbSNP COSMIC |
17 | g.42322409_42322423del | CA2695225852 | STAT3 | c.1967_1981del (p.Gly656_Met660del) c.*359_*373del (n.*359_*373del) c.1940_1954del (p.Gly647_Met651del) n.1420_1434del c.*355_*369del (n.*355_*369del) c.2063_2077del (p.Gly688_Met692del) n.2167_2181del c.1946_1960del (p.Gly649_Met653del) c.1883_1897del (p.Gly628_Met632del) c.1982_1996del (p.Gly661_Met665del) n.2404_2418del c.1871_1885del (p.Gly624_Met628del) n.2384_2398del n.2210_2224del c.1673_1687del (p.Gly558_Met562del) c.1889_1903del (p.Gly630_Met634del) c.1907_1921del (p.Gly636_Met640del) | |
17 | g.42322403C>A | CA399581905 | STAT3 | c.1980G>T (p.Met660Ile) c.*372G>T (n.*372G>T) c.1953G>T (p.Met651Ile) n.1433G>T c.*368G>T (n.*368G>T) c.2076G>T (p.Met692Ile) n.2180G>T c.1959G>T (p.Met653Ile) c.1896G>T (p.Met632Ile) c.1995G>T (p.Met665Ile) n.2417G>T c.1884G>T (p.Met628Ile) n.2397G>T n.2223G>T c.1686G>T (p.Met562Ile) c.1902G>T (p.Met634Ile) c.1920G>T (p.Met640Ile) | dbSNP |
17 | g.42322403C>G | CA399581911 | STAT3 | c.1980G>C (p.Met660Ile) c.*372G>C (n.*372G>C) c.1953G>C (p.Met651Ile) n.1433G>C c.*368G>C (n.*368G>C) c.2076G>C (p.Met692Ile) n.2180G>C c.1959G>C (p.Met653Ile) c.1896G>C (p.Met632Ile) c.1995G>C (p.Met665Ile) n.2417G>C c.1884G>C (p.Met628Ile) n.2397G>C n.2223G>C c.1686G>C (p.Met562Ile) c.1902G>C (p.Met634Ile) c.1920G>C (p.Met640Ile) | dbSNP |
17 | g.42322403C>T | CA399581913 | STAT3 | c.1980G>A (p.Met660Ile) c.*372G>A (n.*372G>A) c.1953G>A (p.Met651Ile) n.1433G>A c.*368G>A (n.*368G>A) c.2076G>A (p.Met692Ile) n.2180G>A c.1959G>A (p.Met653Ile) c.1896G>A (p.Met632Ile) c.1995G>A (p.Met665Ile) n.2417G>A c.1884G>A (p.Met628Ile) n.2397G>A n.2223G>A c.1686G>A (p.Met562Ile) c.1902G>A (p.Met634Ile) c.1920G>A (p.Met640Ile) | dbSNP |
17 | g.42322403_42322414dup | CA645589634 | STAT3 | c.1969_1980dup (p.Met660_Asp661insTyrLysIleMet) c.*361_*372dup (n.*361_*372dup) c.1942_1953dup (p.Met651_Asp652insTyrLysIleMet) n.1422_1433dup c.*357_*368dup (n.*357_*368dup) c.2065_2076dup (p.Met692_Asp693insTyrLysIleMet) n.2169_2180dup c.1948_1959dup (p.Met653_Asp654insTyrLysIleMet) c.1885_1896dup (p.Met632_Asp633insTyrLysIleMet) c.1984_1995dup (p.Met665_Asp666insTyrLysIleMet) n.2406_2417dup c.1873_1884dup (p.Met628_Asp629insTyrLysIleMet) n.2386_2397dup n.2212_2223dup c.1675_1686dup (p.Met562_Asp563insTyrLysIleMet) c.1891_1902dup (p.Met634_Asp635insTyrLysIleMet) c.1909_1920dup (p.Met640_Asp641insTyrLysIleMet) | COSMIC |
17 | g.42322404A= | CA2260430729 | STAT3 | c.1979T= (p.Met660=) c.*371T= (n.*371T=) c.1952T= (p.Met651=) n.1432T= c.*367T= (n.*367T=) c.2075T= (p.Met692=) n.2179T= c.1958T= (p.Met653=) c.1895T= (p.Met632=) c.1994T= (p.Met665=) n.2416T= c.1883T= (p.Met628=) n.2396T= n.2222T= c.1685T= (p.Met562=) c.1901T= (p.Met634=) c.1919T= (p.Met640=) | |
17 | g.42322404A>C | CA399581916 | STAT3 | c.1979T>G (p.Met660Arg) c.*371T>G (n.*371T>G) c.1952T>G (p.Met651Arg) n.1432T>G c.*367T>G (n.*367T>G) c.2075T>G (p.Met692Arg) n.2179T>G c.1958T>G (p.Met653Arg) c.1895T>G (p.Met632Arg) c.1994T>G (p.Met665Arg) n.2416T>G c.1883T>G (p.Met628Arg) n.2396T>G n.2222T>G c.1685T>G (p.Met562Arg) c.1901T>G (p.Met634Arg) c.1919T>G (p.Met640Arg) | |
17 | g.42322404A>G | CA10588650 | STAT3 | c.1979T>C (p.Met660Thr) c.*371T>C (n.*371T>C) c.1952T>C (p.Met651Thr) n.1432T>C c.*367T>C (n.*367T>C) c.2075T>C (p.Met692Thr) n.2179T>C c.1958T>C (p.Met653Thr) c.1895T>C (p.Met632Thr) c.1994T>C (p.Met665Thr) n.2416T>C c.1883T>C (p.Met628Thr) n.2396T>C n.2222T>C c.1685T>C (p.Met562Thr) c.1901T>C (p.Met634Thr) c.1919T>C (p.Met640Thr) | ClinVar dbSNP |
17 | g.42322404A>T | CA399581922 | STAT3 | c.1979T>A (p.Met660Lys) c.*371T>A (n.*371T>A) c.1952T>A (p.Met651Lys) n.1432T>A c.*367T>A (n.*367T>A) c.2075T>A (p.Met692Lys) n.2179T>A c.1958T>A (p.Met653Lys) c.1895T>A (p.Met632Lys) c.1994T>A (p.Met665Lys) n.2416T>A c.1883T>A (p.Met628Lys) n.2396T>A n.2222T>A c.1685T>A (p.Met562Lys) c.1901T>A (p.Met634Lys) c.1919T>A (p.Met640Lys) | dbSNP |
17 | g.42322405T>A | CA399581930 | STAT3 | c.1978A>T (p.Met660Leu) c.*370A>T (n.*370A>T) c.1951A>T (p.Met651Leu) n.1431A>T c.*366A>T (n.*366A>T) c.2074A>T (p.Met692Leu) n.2178A>T c.1957A>T (p.Met653Leu) c.1894A>T (p.Met632Leu) c.1993A>T (p.Met665Leu) n.2415A>T c.1882A>T (p.Met628Leu) n.2395A>T n.2221A>T c.1684A>T (p.Met562Leu) c.1900A>T (p.Met634Leu) c.1918A>T (p.Met640Leu) | dbSNP |
17 | g.42322405T>C | CA399581928 | STAT3 | c.1978A>G (p.Met660Val) c.*370A>G (n.*370A>G) c.1951A>G (p.Met651Val) n.1431A>G c.*366A>G (n.*366A>G) c.2074A>G (p.Met692Val) n.2178A>G c.1957A>G (p.Met653Val) c.1894A>G (p.Met632Val) c.1993A>G (p.Met665Val) n.2415A>G c.1882A>G (p.Met628Val) n.2395A>G n.2221A>G c.1684A>G (p.Met562Val) c.1900A>G (p.Met634Val) c.1918A>G (p.Met640Val) | dbSNP |
17 | g.42322405T>G | CA399581925 | STAT3 | c.1978A>C (p.Met660Leu) c.*370A>C (n.*370A>C) c.1951A>C (p.Met651Leu) n.1431A>C c.*366A>C (n.*366A>C) c.2074A>C (p.Met692Leu) n.2178A>C c.1957A>C (p.Met653Leu) c.1894A>C (p.Met632Leu) c.1993A>C (p.Met665Leu) n.2415A>C c.1882A>C (p.Met628Leu) n.2395A>C n.2221A>C c.1684A>C (p.Met562Leu) c.1900A>C (p.Met634Leu) c.1918A>C (p.Met640Leu) | gnomAD v4 |
17 | g.42322406G>A | CA8575179 | STAT3 | c.1977C>T (p.Ile659=) c.*369C>T (n.*369C>T) c.1950C>T (p.Ile650=) n.1430C>T c.*365C>T (n.*365C>T) c.2073C>T (p.Ile691=) n.2177C>T c.1956C>T (p.Ile652=) c.1893C>T (p.Ile631=) c.1992C>T (p.Ile664=) n.2414C>T c.1881C>T (p.Ile627=) n.2394C>T n.2220C>T c.1683C>T (p.Ile561=) c.1899C>T (p.Ile633=) c.1917C>T (p.Ile639=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42322406G>C | CA399581935 | STAT3 | c.1977C>G (p.Ile659Met) c.*369C>G (n.*369C>G) c.1950C>G (p.Ile650Met) n.1430C>G c.*365C>G (n.*365C>G) c.2073C>G (p.Ile691Met) n.2177C>G c.1956C>G (p.Ile652Met) c.1893C>G (p.Ile631Met) c.1992C>G (p.Ile664Met) n.2414C>G c.1881C>G (p.Ile627Met) n.2394C>G n.2220C>G c.1683C>G (p.Ile561Met) c.1899C>G (p.Ile633Met) c.1917C>G (p.Ile639Met) | dbSNP |
17 | g.42322406G= | CA2260430730 | STAT3 | c.1977C= (p.Ile659=) c.*369C= (n.*369C=) c.1950C= (p.Ile650=) n.1430C= c.*365C= (n.*365C=) c.2073C= (p.Ile691=) n.2177C= c.1956C= (p.Ile652=) c.1893C= (p.Ile631=) c.1992C= (p.Ile664=) n.2414C= c.1881C= (p.Ile627=) n.2394C= n.2220C= c.1683C= (p.Ile561=) c.1899C= (p.Ile633=) c.1917C= (p.Ile639=) | |
17 | g.42322406G>T | CA500061081 | STAT3 | c.1977C>A (p.Ile659=) c.*369C>A (n.*369C>A) c.1950C>A (p.Ile650=) n.1430C>A c.*365C>A (n.*365C>A) c.2073C>A (p.Ile691=) n.2177C>A c.1956C>A (p.Ile652=) c.1893C>A (p.Ile631=) c.1992C>A (p.Ile664=) n.2414C>A c.1881C>A (p.Ile627=) n.2394C>A n.2220C>A c.1683C>A (p.Ile561=) c.1899C>A (p.Ile633=) c.1917C>A (p.Ile639=) | dbSNP |
17 | g.42322407A= | CA2260430731 | STAT3 | c.1976T= (p.Ile659=) c.*368T= (n.*368T=) c.1949T= (p.Ile650=) n.1429T= c.*364T= (n.*364T=) c.2072T= (p.Ile691=) n.2176T= c.1955T= (p.Ile652=) c.1892T= (p.Ile631=) c.1991T= (p.Ile664=) n.2413T= c.1880T= (p.Ile627=) n.2393T= n.2219T= c.1682T= (p.Ile561=) c.1898T= (p.Ile633=) c.1916T= (p.Ile639=) | |
17 | g.42322407A>C | CA399581936 | STAT3 | c.1976T>G (p.Ile659Ser) c.*368T>G (n.*368T>G) c.1949T>G (p.Ile650Ser) n.1429T>G c.*364T>G (n.*364T>G) c.2072T>G (p.Ile691Ser) n.2176T>G c.1955T>G (p.Ile652Ser) c.1892T>G (p.Ile631Ser) c.1991T>G (p.Ile664Ser) n.2413T>G c.1880T>G (p.Ile627Ser) n.2393T>G n.2219T>G c.1682T>G (p.Ile561Ser) c.1898T>G (p.Ile633Ser) c.1916T>G (p.Ile639Ser) | |
17 | g.42322407A>G | CA399581937 | STAT3 | c.1976T>C (p.Ile659Thr) c.*368T>C (n.*368T>C) c.1949T>C (p.Ile650Thr) n.1429T>C c.*364T>C (n.*364T>C) c.2072T>C (p.Ile691Thr) n.2176T>C c.1955T>C (p.Ile652Thr) c.1892T>C (p.Ile631Thr) c.1991T>C (p.Ile664Thr) n.2413T>C c.1880T>C (p.Ile627Thr) n.2393T>C n.2219T>C c.1682T>C (p.Ile561Thr) c.1898T>C (p.Ile633Thr) c.1916T>C (p.Ile639Thr) | |
17 | g.42322407A>T | CA399581938 | STAT3 | c.1976T>A (p.Ile659Asn) c.*368T>A (n.*368T>A) c.1949T>A (p.Ile650Asn) n.1429T>A c.*364T>A (n.*364T>A) c.2072T>A (p.Ile691Asn) n.2176T>A c.1955T>A (p.Ile652Asn) c.1892T>A (p.Ile631Asn) c.1991T>A (p.Ile664Asn) n.2413T>A c.1880T>A (p.Ile627Asn) n.2393T>A n.2219T>A c.1682T>A (p.Ile561Asn) c.1898T>A (p.Ile633Asn) c.1916T>A (p.Ile639Asn) | ClinVar dbSNP |
17 | g.42322408T>A | CA399581941 | STAT3 | c.1975A>T (p.Ile659Phe) c.*367A>T (n.*367A>T) c.1948A>T (p.Ile650Phe) n.1428A>T c.*363A>T (n.*363A>T) c.2071A>T (p.Ile691Phe) n.2175A>T c.1954A>T (p.Ile652Phe) c.1891A>T (p.Ile631Phe) c.1990A>T (p.Ile664Phe) n.2412A>T c.1879A>T (p.Ile627Phe) n.2392A>T n.2218A>T c.1681A>T (p.Ile561Phe) c.1897A>T (p.Ile633Phe) c.1915A>T (p.Ile639Phe) | dbSNP |
17 | g.42322408T>C | CA399581944 | STAT3 | c.1975A>G (p.Ile659Val) c.*367A>G (n.*367A>G) c.1948A>G (p.Ile650Val) n.1428A>G c.*363A>G (n.*363A>G) c.2071A>G (p.Ile691Val) n.2175A>G c.1954A>G (p.Ile652Val) c.1891A>G (p.Ile631Val) c.1990A>G (p.Ile664Val) n.2412A>G c.1879A>G (p.Ile627Val) n.2392A>G n.2218A>G c.1681A>G (p.Ile561Val) c.1897A>G (p.Ile633Val) c.1915A>G (p.Ile639Val) | dbSNP |
17 | g.42322408T>G | CA399581946 | STAT3 | c.1975A>C (p.Ile659Leu) c.*367A>C (n.*367A>C) c.1948A>C (p.Ile650Leu) n.1428A>C c.*363A>C (n.*363A>C) c.2071A>C (p.Ile691Leu) n.2175A>C c.1954A>C (p.Ile652Leu) c.1891A>C (p.Ile631Leu) c.1990A>C (p.Ile664Leu) n.2412A>C c.1879A>C (p.Ile627Leu) n.2392A>C n.2218A>C c.1681A>C (p.Ile561Leu) c.1897A>C (p.Ile633Leu) c.1915A>C (p.Ile639Leu) | dbSNP gnomAD v4 COSMIC |
17 | g.42322409C>A | CA399581949 | STAT3 | c.1974G>T (p.Lys658Asn) c.*366G>T (n.*366G>T) c.1947G>T (p.Lys649Asn) n.1427G>T c.*362G>T (n.*362G>T) c.2070G>T (p.Lys690Asn) n.2174G>T c.1953G>T (p.Lys651Asn) c.1890G>T (p.Lys630Asn) c.1989G>T (p.Lys663Asn) n.2411G>T c.1878G>T (p.Lys626Asn) n.2391G>T n.2217G>T c.1680G>T (p.Lys560Asn) c.1896G>T (p.Lys632Asn) c.1914G>T (p.Lys638Asn) | ClinVar dbSNP COSMIC |
17 | g.42322409C= | CA2260430732 | STAT3 | c.1974G= (p.Lys658=) c.*366G= (n.*366G=) c.1947G= (p.Lys649=) n.1427G= c.*362G= (n.*362G=) c.2070G= (p.Lys690=) n.2174G= c.1953G= (p.Lys651=) c.1890G= (p.Lys630=) c.1989G= (p.Lys663=) n.2411G= c.1878G= (p.Lys626=) n.2391G= n.2217G= c.1680G= (p.Lys560=) c.1896G= (p.Lys632=) c.1914G= (p.Lys638=) | |
17 | g.42322409C>G | CA170590 | STAT3 | c.1974G>C (p.Lys658Asn) c.*366G>C (n.*366G>C) c.1947G>C (p.Lys649Asn) n.1427G>C c.*362G>C (n.*362G>C) c.2070G>C (p.Lys690Asn) n.2174G>C c.1953G>C (p.Lys651Asn) c.1890G>C (p.Lys630Asn) c.1989G>C (p.Lys663Asn) n.2411G>C c.1878G>C (p.Lys626Asn) n.2391G>C n.2217G>C c.1680G>C (p.Lys560Asn) c.1896G>C (p.Lys632Asn) c.1914G>C (p.Lys638Asn) | ClinVar dbSNP |
17 | g.42322409C>T | CA500061082 | STAT3 | c.1974G>A (p.Lys658=) c.*366G>A (n.*366G>A) c.1947G>A (p.Lys649=) n.1427G>A c.*362G>A (n.*362G>A) c.2070G>A (p.Lys690=) n.2174G>A c.1953G>A (p.Lys651=) c.1890G>A (p.Lys630=) c.1989G>A (p.Lys663=) n.2411G>A c.1878G>A (p.Lys626=) n.2391G>A n.2217G>A c.1680G>A (p.Lys560=) c.1896G>A (p.Lys632=) c.1914G>A (p.Lys638=) | gnomAD v4 |
17 | g.42322409_42322411delinsATA | CA645589635 | STAT3 | c.1972_1974delinsTAT (p.Lys658Tyr) c.*364_*366delinsTAT (n.*364_*366delinsTAT) c.1945_1947delinsTAT (p.Lys649Tyr) n.1425_1427delinsTAT c.*360_*362delinsTAT (n.*360_*362delinsTAT) c.2068_2070delinsTAT (p.Lys690Tyr) n.2172_2174delinsTAT c.1951_1953delinsTAT (p.Lys651Tyr) c.1888_1890delinsTAT (p.Lys630Tyr) c.1987_1989delinsTAT (p.Lys663Tyr) n.2409_2411delinsTAT c.1876_1878delinsTAT (p.Lys626Tyr) n.2389_2391delinsTAT n.2215_2217delinsTAT c.1678_1680delinsTAT (p.Lys560Tyr) c.1894_1896delinsTAT (p.Lys632Tyr) c.1912_1914delinsTAT (p.Lys638Tyr) | COSMIC |
17 | g.42322409_42322411delinsGTG | CA645589636 | STAT3 | c.1972_1974delinsCAC (p.Lys658His) c.*364_*366delinsCAC (n.*364_*366delinsCAC) c.1945_1947delinsCAC (p.Lys649His) n.1425_1427delinsCAC c.*360_*362delinsCAC (n.*360_*362delinsCAC) c.2068_2070delinsCAC (p.Lys690His) n.2172_2174delinsCAC c.1951_1953delinsCAC (p.Lys651His) c.1888_1890delinsCAC (p.Lys630His) c.1987_1989delinsCAC (p.Lys663His) n.2409_2411delinsCAC c.1876_1878delinsCAC (p.Lys626His) n.2389_2391delinsCAC n.2215_2217delinsCAC c.1678_1680delinsCAC (p.Lys560His) c.1894_1896delinsCAC (p.Lys632His) c.1912_1914delinsCAC (p.Lys638His) | COSMIC |
17 | g.42322410T>A | CA399581955 | STAT3 | c.1973A>T (p.Lys658Met) c.*365A>T (n.*365A>T) c.1946A>T (p.Lys649Met) n.1426A>T c.*361A>T (n.*361A>T) c.2069A>T (p.Lys690Met) n.2173A>T c.1952A>T (p.Lys651Met) c.1889A>T (p.Lys630Met) c.1988A>T (p.Lys663Met) n.2410A>T c.1877A>T (p.Lys626Met) n.2390A>T n.2216A>T c.1679A>T (p.Lys560Met) c.1895A>T (p.Lys632Met) c.1913A>T (p.Lys638Met) | |
17 | g.42322410T>C | CA399581976 | STAT3 | c.1973A>G (p.Lys658Arg) c.*365A>G (n.*365A>G) c.1946A>G (p.Lys649Arg) n.1426A>G c.*361A>G (n.*361A>G) c.2069A>G (p.Lys690Arg) n.2173A>G c.1952A>G (p.Lys651Arg) c.1889A>G (p.Lys630Arg) c.1988A>G (p.Lys663Arg) n.2410A>G c.1877A>G (p.Lys626Arg) n.2390A>G n.2216A>G c.1679A>G (p.Lys560Arg) c.1895A>G (p.Lys632Arg) c.1913A>G (p.Lys638Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.42322410T>G | CA399581986 | STAT3 | c.1973A>C (p.Lys658Thr) c.*365A>C (n.*365A>C) c.1946A>C (p.Lys649Thr) n.1426A>C c.*361A>C (n.*361A>C) c.2069A>C (p.Lys690Thr) n.2173A>C c.1952A>C (p.Lys651Thr) c.1889A>C (p.Lys630Thr) c.1988A>C (p.Lys663Thr) n.2410A>C c.1877A>C (p.Lys626Thr) n.2390A>C n.2216A>C c.1679A>C (p.Lys560Thr) c.1895A>C (p.Lys632Thr) c.1913A>C (p.Lys638Thr) | |
17 | g.42322410T= | CA2260430733 | STAT3 | c.1973A= (p.Lys658=) c.*365A= (n.*365A=) c.1946A= (p.Lys649=) n.1426A= c.*361A= (n.*361A=) c.2069A= (p.Lys690=) n.2173A= c.1952A= (p.Lys651=) c.1889A= (p.Lys630=) c.1988A= (p.Lys663=) n.2410A= c.1877A= (p.Lys626=) n.2390A= n.2216A= c.1679A= (p.Lys560=) c.1895A= (p.Lys632=) c.1913A= (p.Lys638=) | |
17 | g.42322411T>A | CA399581994 | STAT3 | c.1972A>T (p.Lys658Ter) c.*364A>T (n.*364A>T) c.1945A>T (p.Lys649Ter) n.1425A>T c.*360A>T (n.*360A>T) c.2068A>T (p.Lys690Ter) n.2172A>T c.1951A>T (p.Lys651Ter) c.1888A>T (p.Lys630Ter) c.1987A>T (p.Lys663Ter) n.2409A>T c.1876A>T (p.Lys626Ter) n.2389A>T n.2215A>T c.1678A>T (p.Lys560Ter) c.1894A>T (p.Lys632Ter) c.1912A>T (p.Lys638Ter) | dbSNP |
17 | g.42322411T>C | CA399581996 | STAT3 | c.1972A>G (p.Lys658Glu) c.*364A>G (n.*364A>G) c.1945A>G (p.Lys649Glu) n.1425A>G c.*360A>G (n.*360A>G) c.2068A>G (p.Lys690Glu) n.2172A>G c.1951A>G (p.Lys651Glu) c.1888A>G (p.Lys630Glu) c.1987A>G (p.Lys663Glu) n.2409A>G c.1876A>G (p.Lys626Glu) n.2389A>G n.2215A>G c.1678A>G (p.Lys560Glu) c.1894A>G (p.Lys632Glu) c.1912A>G (p.Lys638Glu) | dbSNP |
17 | g.42322411T>G | CA399581991 | STAT3 | c.1972A>C (p.Lys658Gln) c.*364A>C (n.*364A>C) c.1945A>C (p.Lys649Gln) n.1425A>C c.*360A>C (n.*360A>C) c.2068A>C (p.Lys690Gln) n.2172A>C c.1951A>C (p.Lys651Gln) c.1888A>C (p.Lys630Gln) c.1987A>C (p.Lys663Gln) n.2409A>C c.1876A>C (p.Lys626Gln) n.2389A>C n.2215A>C c.1678A>C (p.Lys560Gln) c.1894A>C (p.Lys632Gln) c.1912A>C (p.Lys638Gln) | dbSNP |
17 | g.42322411T= | CA2260430734 | STAT3 | c.1972A= (p.Lys658=) c.*364A= (n.*364A=) c.1945A= (p.Lys649=) n.1425A= c.*360A= (n.*360A=) c.2068A= (p.Lys690=) n.2172A= c.1951A= (p.Lys651=) c.1888A= (p.Lys630=) c.1987A= (p.Lys663=) n.2409A= c.1876A= (p.Lys626=) n.2389A= n.2215A= c.1678A= (p.Lys560=) c.1894A= (p.Lys632=) c.1912A= (p.Lys638=) | |
17 | g.42322412del | CA2695225853 | STAT3 | c.1971del (p.Tyr657Ter) c.*363del (n.*363del) c.1944del (p.Tyr648Ter) n.1424del c.*359del (n.*359del) c.2067del (p.Tyr689Ter) n.2171del c.1950del (p.Tyr650Ter) c.1887del (p.Tyr629Ter) c.1986del (p.Tyr662Ter) n.2408del c.1875del (p.Tyr625Ter) n.2388del n.2214del c.1677del (p.Tyr559Ter) c.1893del (p.Tyr631Ter) c.1911del (p.Tyr637Ter) | |
17 | g.42322412A>C | CA399582003 | STAT3 | c.1971T>G (p.Tyr657Ter) c.*363T>G (n.*363T>G) c.1944T>G (p.Tyr648Ter) n.1424T>G c.*359T>G (n.*359T>G) c.2067T>G (p.Tyr689Ter) n.2171T>G c.1950T>G (p.Tyr650Ter) c.1887T>G (p.Tyr629Ter) c.1986T>G (p.Tyr662Ter) n.2408T>G c.1875T>G (p.Tyr625Ter) n.2388T>G n.2214T>G c.1677T>G (p.Tyr559Ter) c.1893T>G (p.Tyr631Ter) c.1911T>G (p.Tyr637Ter) | dbSNP |
17 | g.42322412A>G | CA500061083 | STAT3 | c.1971T>C (p.Tyr657=) c.*363T>C (n.*363T>C) c.1944T>C (p.Tyr648=) n.1424T>C c.*359T>C (n.*359T>C) c.2067T>C (p.Tyr689=) n.2171T>C c.1950T>C (p.Tyr650=) c.1887T>C (p.Tyr629=) c.1986T>C (p.Tyr662=) n.2408T>C c.1875T>C (p.Tyr625=) n.2388T>C n.2214T>C c.1677T>C (p.Tyr559=) c.1893T>C (p.Tyr631=) c.1911T>C (p.Tyr637=) | dbSNP |
17 | g.42322412A>T | CA399581999 | STAT3 | c.1971T>A (p.Tyr657Ter) c.*363T>A (n.*363T>A) c.1944T>A (p.Tyr648Ter) n.1424T>A c.*359T>A (n.*359T>A) c.2067T>A (p.Tyr689Ter) n.2171T>A c.1950T>A (p.Tyr650Ter) c.1887T>A (p.Tyr629Ter) c.1986T>A (p.Tyr662Ter) n.2408T>A c.1875T>A (p.Tyr625Ter) n.2388T>A n.2214T>A c.1677T>A (p.Tyr559Ter) c.1893T>A (p.Tyr631Ter) c.1911T>A (p.Tyr637Ter) | dbSNP |
17 | g.42322412_42322414delinsATA | CA2260430735 | STAT3 | c.1969_1971delinsTAT (p.Tyr657=) c.*361_*363delinsTAT (n.*361_*363delinsTAT) c.1942_1944delinsTAT (p.Tyr648=) n.1422_1424delinsTAT c.*357_*359delinsTAT (n.*357_*359delinsTAT) c.2065_2067delinsTAT (p.Tyr689=) n.2169_2171delinsTAT c.1948_1950delinsTAT (p.Tyr650=) c.1885_1887delinsTAT (p.Tyr629=) c.1984_1986delinsTAT (p.Tyr662=) n.2406_2408delinsTAT c.1873_1875delinsTAT (p.Tyr625=) n.2386_2388delinsTAT n.2212_2214delinsTAT c.1675_1677delinsTAT (p.Tyr559=) c.1891_1893delinsTAT (p.Tyr631=) c.1909_1911delinsTAT (p.Tyr637=) | |
17 | g.42322412_42322414delinsCTG | CA16620409 | STAT3 | c.1969_1971delinsCAG (p.Tyr657Gln) c.*361_*363delinsCAG (n.*361_*363delinsCAG) c.1942_1944delinsCAG (p.Tyr648Gln) n.1422_1424delinsCAG c.*357_*359delinsCAG (n.*357_*359delinsCAG) c.2065_2067delinsCAG (p.Tyr689Gln) n.2169_2171delinsCAG c.1948_1950delinsCAG (p.Tyr650Gln) c.1885_1887delinsCAG (p.Tyr629Gln) c.1984_1986delinsCAG (p.Tyr662Gln) n.2406_2408delinsCAG c.1873_1875delinsCAG (p.Tyr625Gln) n.2386_2388delinsCAG n.2212_2214delinsCAG c.1675_1677delinsCAG (p.Tyr559Gln) c.1891_1893delinsCAG (p.Tyr631Gln) c.1909_1911delinsCAG (p.Tyr637Gln) | ClinVar dbSNP |
17 | g.42322412_42322414dup | CA645589637 | STAT3 | c.1969_1971dup (p.Tyr657_Lys658insTyr) c.*361_*363dup (n.*361_*363dup) c.1942_1944dup (p.Tyr648_Lys649insTyr) n.1422_1424dup c.*357_*359dup (n.*357_*359dup) c.2065_2067dup (p.Tyr689_Lys690insTyr) n.2169_2171dup c.1948_1950dup (p.Tyr650_Lys651insTyr) c.1885_1887dup (p.Tyr629_Lys630insTyr) c.1984_1986dup (p.Tyr662_Lys663insTyr) n.2406_2408dup c.1873_1875dup (p.Tyr625_Lys626insTyr) n.2386_2388dup n.2212_2214dup c.1675_1677dup (p.Tyr559_Lys560insTyr) c.1891_1893dup (p.Tyr631_Lys632insTyr) c.1909_1911dup (p.Tyr637_Lys638insTyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |