Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.42322413T>A | CA399582030 | STAT3 | c.1970A>T (p.Tyr657Phe) c.*362A>T (n.*362A>T) c.1943A>T (p.Tyr648Phe) n.1423A>T c.*358A>T (n.*358A>T) c.2066A>T (p.Tyr689Phe) n.2170A>T c.1949A>T (p.Tyr650Phe) c.1886A>T (p.Tyr629Phe) c.1985A>T (p.Tyr662Phe) n.2407A>T c.1874A>T (p.Tyr625Phe) n.2387A>T n.2213A>T c.1676A>T (p.Tyr559Phe) c.1892A>T (p.Tyr631Phe) c.1910A>T (p.Tyr637Phe) | dbSNP |
17 | g.42322413T>C | CA260546 | STAT3 | c.1970A>G (p.Tyr657Cys) c.*362A>G (n.*362A>G) c.1943A>G (p.Tyr648Cys) n.1423A>G c.*358A>G (n.*358A>G) c.2066A>G (p.Tyr689Cys) n.2170A>G c.1949A>G (p.Tyr650Cys) c.1886A>G (p.Tyr629Cys) c.1985A>G (p.Tyr662Cys) n.2407A>G c.1874A>G (p.Tyr625Cys) n.2387A>G n.2213A>G c.1676A>G (p.Tyr559Cys) c.1892A>G (p.Tyr631Cys) c.1910A>G (p.Tyr637Cys) | ClinVar dbSNP |
17 | g.42322413T>G | CA399582026 | STAT3 | c.1970A>C (p.Tyr657Ser) c.*362A>C (n.*362A>C) c.1943A>C (p.Tyr648Ser) n.1423A>C c.*358A>C (n.*358A>C) c.2066A>C (p.Tyr689Ser) n.2170A>C c.1949A>C (p.Tyr650Ser) c.1886A>C (p.Tyr629Ser) c.1985A>C (p.Tyr662Ser) n.2407A>C c.1874A>C (p.Tyr625Ser) n.2387A>C n.2213A>C c.1676A>C (p.Tyr559Ser) c.1892A>C (p.Tyr631Ser) c.1910A>C (p.Tyr637Ser) | dbSNP |
17 | g.42322413T= | CA2260430736 | STAT3 | c.1970A= (p.Tyr657=) c.*362A= (n.*362A=) c.1943A= (p.Tyr648=) n.1423A= c.*358A= (n.*358A=) c.2066A= (p.Tyr689=) n.2170A= c.1949A= (p.Tyr650=) c.1886A= (p.Tyr629=) c.1985A= (p.Tyr662=) n.2407A= c.1874A= (p.Tyr625=) n.2387A= n.2213A= c.1676A= (p.Tyr559=) c.1892A= (p.Tyr631=) c.1910A= (p.Tyr637=) | |
17 | g.42322414A>C | CA399582031 | STAT3 | c.1969T>G (p.Tyr657Asp) c.*361T>G (n.*361T>G) c.1942T>G (p.Tyr648Asp) n.1422T>G c.*357T>G (n.*357T>G) c.2065T>G (p.Tyr689Asp) n.2169T>G c.1948T>G (p.Tyr650Asp) c.1885T>G (p.Tyr629Asp) c.1984T>G (p.Tyr662Asp) n.2406T>G c.1873T>G (p.Tyr625Asp) n.2386T>G n.2212T>G c.1675T>G (p.Tyr559Asp) c.1891T>G (p.Tyr631Asp) c.1909T>G (p.Tyr637Asp) | |
17 | g.42322414A>G | CA399582032 | STAT3 | c.1969T>C (p.Tyr657His) c.*361T>C (n.*361T>C) c.1942T>C (p.Tyr648His) n.1422T>C c.*357T>C (n.*357T>C) c.2065T>C (p.Tyr689His) n.2169T>C c.1948T>C (p.Tyr650His) c.1885T>C (p.Tyr629His) c.1984T>C (p.Tyr662His) n.2406T>C c.1873T>C (p.Tyr625His) n.2386T>C n.2212T>C c.1675T>C (p.Tyr559His) c.1891T>C (p.Tyr631His) c.1909T>C (p.Tyr637His) | |
17 | g.42322414A>T | CA399582033 | STAT3 | c.1969T>A (p.Tyr657Asn) c.*361T>A (n.*361T>A) c.1942T>A (p.Tyr648Asn) n.1422T>A c.*357T>A (n.*357T>A) c.2065T>A (p.Tyr689Asn) n.2169T>A c.1948T>A (p.Tyr650Asn) c.1885T>A (p.Tyr629Asn) c.1984T>A (p.Tyr662Asn) n.2406T>A c.1873T>A (p.Tyr625Asn) n.2386T>A n.2212T>A c.1675T>A (p.Tyr559Asn) c.1891T>A (p.Tyr631Asn) c.1909T>A (p.Tyr637Asn) | dbSNP |
17 | g.42322414_42322415insAAA | CA2637932881 | STAT3 | c.1969_1970insTTT (p.Gly656_Tyr657insPhe) c.*361_*362insTTT (n.*361_*362insTTT) c.1942_1943insTTT (p.Gly647_Tyr648insPhe) n.1422_1423insTTT c.*357_*358insTTT (n.*357_*358insTTT) c.2065_2066insTTT (p.Gly688_Tyr689insPhe) n.2169_2170insTTT c.1948_1949insTTT (p.Gly649_Tyr650insPhe) c.1885_1886insTTT (p.Gly628_Tyr629insPhe) c.1984_1985insTTT (p.Gly661_Tyr662insPhe) n.2406_2407insTTT c.1873_1874insTTT (p.Gly624_Tyr625insPhe) n.2386_2387insTTT n.2212_2213insTTT c.1675_1676insTTT (p.Gly558_Tyr559insPhe) c.1891_1892insTTT (p.Gly630_Tyr631insPhe) c.1909_1910insTTT (p.Gly636_Tyr637insPhe) | ClinVar gnomAD v4 |
17 | g.42322415G>A | CA8575180 | STAT3 | c.1968C>T (p.Gly656=) c.*360C>T (n.*360C>T) c.1941C>T (p.Gly647=) n.1421C>T c.*356C>T (n.*356C>T) c.2064C>T (p.Gly688=) n.2168C>T c.1947C>T (p.Gly649=) c.1884C>T (p.Gly628=) c.1983C>T (p.Gly661=) n.2405C>T c.1872C>T (p.Gly624=) n.2385C>T n.2211C>T c.1674C>T (p.Gly558=) c.1890C>T (p.Gly630=) c.1908C>T (p.Gly636=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42322415G>C | CA500061084 | STAT3 | c.1968C>G (p.Gly656=) c.*360C>G (n.*360C>G) c.1941C>G (p.Gly647=) n.1421C>G c.*356C>G (n.*356C>G) c.2064C>G (p.Gly688=) n.2168C>G c.1947C>G (p.Gly649=) c.1884C>G (p.Gly628=) c.1983C>G (p.Gly661=) n.2405C>G c.1872C>G (p.Gly624=) n.2385C>G n.2211C>G c.1674C>G (p.Gly558=) c.1890C>G (p.Gly630=) c.1908C>G (p.Gly636=) | dbSNP |
17 | g.42322415G= | CA2260430737 | STAT3 | c.1968C= (p.Gly656=) c.*360C= (n.*360C=) c.1941C= (p.Gly647=) n.1421C= c.*356C= (n.*356C=) c.2064C= (p.Gly688=) n.2168C= c.1947C= (p.Gly649=) c.1884C= (p.Gly628=) c.1983C= (p.Gly661=) n.2405C= c.1872C= (p.Gly624=) n.2385C= n.2211C= c.1674C= (p.Gly558=) c.1890C= (p.Gly630=) c.1908C= (p.Gly636=) | |
17 | g.42322415G>T | CA500061085 | STAT3 | c.1968C>A (p.Gly656=) c.*360C>A (n.*360C>A) c.1941C>A (p.Gly647=) n.1421C>A c.*356C>A (n.*356C>A) c.2064C>A (p.Gly688=) n.2168C>A c.1947C>A (p.Gly649=) c.1884C>A (p.Gly628=) c.1983C>A (p.Gly661=) n.2405C>A c.1872C>A (p.Gly624=) n.2385C>A n.2211C>A c.1674C>A (p.Gly558=) c.1890C>A (p.Gly630=) c.1908C>A (p.Gly636=) | dbSNP gnomAD v4 |
17 | g.42322415delinsAAAA | CA645589638 | STAT3 | c.1968delinsTTTT (p.Gly656_Tyr657insPhe) c.*360delinsTTTT (n.*360delinsTTTT) c.1941delinsTTTT (p.Gly647_Tyr648insPhe) n.1421delinsTTTT c.*356delinsTTTT (n.*356delinsTTTT) c.2064delinsTTTT (p.Gly688_Tyr689insPhe) n.2168delinsTTTT c.1947delinsTTTT (p.Gly649_Tyr650insPhe) c.1884delinsTTTT (p.Gly628_Tyr629insPhe) c.1983delinsTTTT (p.Gly661_Tyr662insPhe) n.2405delinsTTTT c.1872delinsTTTT (p.Gly624_Tyr625insPhe) n.2385delinsTTTT n.2211delinsTTTT c.1674delinsTTTT (p.Gly558_Tyr559insPhe) c.1890delinsTTTT (p.Gly630_Tyr631insPhe) c.1908delinsTTTT (p.Gly636_Tyr637insPhe) | COSMIC |
17 | g.42322416C>A | CA399582036 | STAT3 | c.1967G>T (p.Gly656Val) c.*359G>T (n.*359G>T) c.1940G>T (p.Gly647Val) n.1420G>T c.*355G>T (n.*355G>T) c.2063G>T (p.Gly688Val) n.2167G>T c.1946G>T (p.Gly649Val) c.1883G>T (p.Gly628Val) c.1982G>T (p.Gly661Val) n.2404G>T c.1871G>T (p.Gly624Val) n.2384G>T n.2210G>T c.1673G>T (p.Gly558Val) c.1889G>T (p.Gly630Val) c.1907G>T (p.Gly636Val) | dbSNP |
17 | g.42322416C>G | CA399582040 | STAT3 | c.1967G>C (p.Gly656Ala) c.*359G>C (n.*359G>C) c.1940G>C (p.Gly647Ala) n.1420G>C c.*355G>C (n.*355G>C) c.2063G>C (p.Gly688Ala) n.2167G>C c.1946G>C (p.Gly649Ala) c.1883G>C (p.Gly628Ala) c.1982G>C (p.Gly661Ala) n.2404G>C c.1871G>C (p.Gly624Ala) n.2384G>C n.2210G>C c.1673G>C (p.Gly558Ala) c.1889G>C (p.Gly630Ala) c.1907G>C (p.Gly636Ala) | dbSNP |
17 | g.42322416C>T | CA399582048 | STAT3 | c.1967G>A (p.Gly656Asp) c.*359G>A (n.*359G>A) c.1940G>A (p.Gly647Asp) n.1420G>A c.*355G>A (n.*355G>A) c.2063G>A (p.Gly688Asp) n.2167G>A c.1946G>A (p.Gly649Asp) c.1883G>A (p.Gly628Asp) c.1982G>A (p.Gly661Asp) n.2404G>A c.1871G>A (p.Gly624Asp) n.2384G>A n.2210G>A c.1673G>A (p.Gly558Asp) c.1889G>A (p.Gly630Asp) c.1907G>A (p.Gly636Asp) | dbSNP COSMIC |
17 | g.42322417C>A | CA399582051 | STAT3 | c.1966G>T (p.Gly656Cys) c.*358G>T (n.*358G>T) c.1939G>T (p.Gly647Cys) n.1419G>T c.*354G>T (n.*354G>T) c.2062G>T (p.Gly688Cys) n.2166G>T c.1945G>T (p.Gly649Cys) c.1882G>T (p.Gly628Cys) c.1981G>T (p.Gly661Cys) n.2403G>T c.1870G>T (p.Gly624Cys) n.2383G>T n.2209G>T c.1672G>T (p.Gly558Cys) c.1888G>T (p.Gly630Cys) c.1906G>T (p.Gly636Cys) | dbSNP |
17 | g.42322417C>G | CA399582070 | STAT3 | c.1966G>C (p.Gly656Arg) c.*358G>C (n.*358G>C) c.1939G>C (p.Gly647Arg) n.1419G>C c.*354G>C (n.*354G>C) c.2062G>C (p.Gly688Arg) n.2166G>C c.1945G>C (p.Gly649Arg) c.1882G>C (p.Gly628Arg) c.1981G>C (p.Gly661Arg) n.2403G>C c.1870G>C (p.Gly624Arg) n.2383G>C n.2209G>C c.1672G>C (p.Gly558Arg) c.1888G>C (p.Gly630Arg) c.1906G>C (p.Gly636Arg) | ClinVar dbSNP |
17 | g.42322417C>T | CA399582074 | STAT3 | c.1966G>A (p.Gly656Ser) c.*358G>A (n.*358G>A) c.1939G>A (p.Gly647Ser) n.1419G>A c.*354G>A (n.*354G>A) c.2062G>A (p.Gly688Ser) n.2166G>A c.1945G>A (p.Gly649Ser) c.1882G>A (p.Gly628Ser) c.1981G>A (p.Gly661Ser) n.2403G>A c.1870G>A (p.Gly624Ser) n.2383G>A n.2209G>A c.1672G>A (p.Gly558Ser) c.1888G>A (p.Gly630Ser) c.1906G>A (p.Gly636Ser) | dbSNP |
17 | g.42322418C>A | CA399582089 | STAT3 | c.1965G>T (p.Met655Ile) c.*357G>T (n.*357G>T) c.1938G>T (p.Met646Ile) n.1418G>T c.*353G>T (n.*353G>T) c.2061G>T (p.Met687Ile) n.2165G>T c.1944G>T (p.Met648Ile) c.1881G>T (p.Met627Ile) c.1980G>T (p.Met660Ile) n.2402G>T c.1869G>T (p.Met623Ile) n.2382G>T n.2208G>T c.1671G>T (p.Met557Ile) c.1887G>T (p.Met629Ile) c.1905G>T (p.Met635Ile) | dbSNP |
17 | g.42322418C>G | CA399582086 | STAT3 | c.1965G>C (p.Met655Ile) c.*357G>C (n.*357G>C) c.1938G>C (p.Met646Ile) n.1418G>C c.*353G>C (n.*353G>C) c.2061G>C (p.Met687Ile) n.2165G>C c.1944G>C (p.Met648Ile) c.1881G>C (p.Met627Ile) c.1980G>C (p.Met660Ile) n.2402G>C c.1869G>C (p.Met623Ile) n.2382G>C n.2208G>C c.1671G>C (p.Met557Ile) c.1887G>C (p.Met629Ile) c.1905G>C (p.Met635Ile) | dbSNP |
17 | g.42322418C>T | CA399582088 | STAT3 | c.1965G>A (p.Met655Ile) c.*357G>A (n.*357G>A) c.1938G>A (p.Met646Ile) n.1418G>A c.*353G>A (n.*353G>A) c.2061G>A (p.Met687Ile) n.2165G>A c.1944G>A (p.Met648Ile) c.1881G>A (p.Met627Ile) c.1980G>A (p.Met660Ile) n.2402G>A c.1869G>A (p.Met623Ile) n.2382G>A n.2208G>A c.1671G>A (p.Met557Ile) c.1887G>A (p.Met629Ile) c.1905G>A (p.Met635Ile) | dbSNP COSMIC |
17 | g.42322419A>C | CA399582090 | STAT3 | c.1964T>G (p.Met655Arg) c.*356T>G (n.*356T>G) c.1937T>G (p.Met646Arg) n.1417T>G c.*352T>G (n.*352T>G) c.2060T>G (p.Met687Arg) n.2164T>G c.1943T>G (p.Met648Arg) c.1880T>G (p.Met627Arg) c.1979T>G (p.Met660Arg) n.2401T>G c.1868T>G (p.Met623Arg) n.2381T>G n.2207T>G c.1670T>G (p.Met557Arg) c.1886T>G (p.Met629Arg) c.1904T>G (p.Met635Arg) | |
17 | g.42322419A>G | CA399582092 | STAT3 | c.1964T>C (p.Met655Thr) c.*356T>C (n.*356T>C) c.1937T>C (p.Met646Thr) n.1417T>C c.*352T>C (n.*352T>C) c.2060T>C (p.Met687Thr) n.2164T>C c.1943T>C (p.Met648Thr) c.1880T>C (p.Met627Thr) c.1979T>C (p.Met660Thr) n.2401T>C c.1868T>C (p.Met623Thr) n.2381T>C n.2207T>C c.1670T>C (p.Met557Thr) c.1886T>C (p.Met629Thr) c.1904T>C (p.Met635Thr) | dbSNP |
17 | g.42322419A>T | CA399582094 | STAT3 | c.1964T>A (p.Met655Lys) c.*356T>A (n.*356T>A) c.1937T>A (p.Met646Lys) n.1417T>A c.*352T>A (n.*352T>A) c.2060T>A (p.Met687Lys) n.2164T>A c.1943T>A (p.Met648Lys) c.1880T>A (p.Met627Lys) c.1979T>A (p.Met660Lys) n.2401T>A c.1868T>A (p.Met623Lys) n.2381T>A n.2207T>A c.1670T>A (p.Met557Lys) c.1886T>A (p.Met629Lys) c.1904T>A (p.Met635Lys) | dbSNP COSMIC |
17 | g.42322424_42322426del | CA2695225854 | STAT3 | c.1962_1964del (p.Ile654del) c.*354_*356del (n.*354_*356del) c.1935_1937del (p.Ile645del) n.1415_1417del c.*350_*352del (n.*350_*352del) c.2058_2060del (p.Ile686del) n.2162_2164del c.1941_1943del (p.Ile647del) c.1878_1880del (p.Ile626del) c.1977_1979del (p.Ile659del) n.2399_2401del c.1866_1868del (p.Ile622del) n.2379_2381del n.2205_2207del c.1668_1670del (p.Ile556del) c.1884_1886del (p.Ile628del) c.1902_1904del (p.Ile634del) | |
17 | g.42322420T>A | CA399582099 | STAT3 | c.1963A>T (p.Met655Leu) c.*355A>T (n.*355A>T) c.1936A>T (p.Met646Leu) n.1416A>T c.*351A>T (n.*351A>T) c.2059A>T (p.Met687Leu) n.2163A>T c.1942A>T (p.Met648Leu) c.1879A>T (p.Met627Leu) c.1978A>T (p.Met660Leu) n.2400A>T c.1867A>T (p.Met623Leu) n.2380A>T n.2206A>T c.1669A>T (p.Met557Leu) c.1885A>T (p.Met629Leu) c.1903A>T (p.Met635Leu) | ClinVar dbSNP |
17 | g.42322420T>C | CA399582105 | STAT3 | c.1963A>G (p.Met655Val) c.*355A>G (n.*355A>G) c.1936A>G (p.Met646Val) n.1416A>G c.*351A>G (n.*351A>G) c.2059A>G (p.Met687Val) n.2163A>G c.1942A>G (p.Met648Val) c.1879A>G (p.Met627Val) c.1978A>G (p.Met660Val) n.2400A>G c.1867A>G (p.Met623Val) n.2380A>G n.2206A>G c.1669A>G (p.Met557Val) c.1885A>G (p.Met629Val) c.1903A>G (p.Met635Val) | dbSNP |
17 | g.42322420T>G | CA399582132 | STAT3 | c.1963A>C (p.Met655Leu) c.*355A>C (n.*355A>C) c.1936A>C (p.Met646Leu) n.1416A>C c.*351A>C (n.*351A>C) c.2059A>C (p.Met687Leu) n.2163A>C c.1942A>C (p.Met648Leu) c.1879A>C (p.Met627Leu) c.1978A>C (p.Met660Leu) n.2400A>C c.1867A>C (p.Met623Leu) n.2380A>C n.2206A>C c.1669A>C (p.Met557Leu) c.1885A>C (p.Met629Leu) c.1903A>C (p.Met635Leu) | |
17 | g.42322420T= | CA2260430738 | STAT3 | c.1963A= (p.Met655=) c.*355A= (n.*355A=) c.1936A= (p.Met646=) n.1416A= c.*351A= (n.*351A=) c.2059A= (p.Met687=) n.2163A= c.1942A= (p.Met648=) c.1879A= (p.Met627=) c.1978A= (p.Met660=) n.2400A= c.1867A= (p.Met623=) n.2380A= n.2206A= c.1669A= (p.Met557=) c.1885A= (p.Met629=) c.1903A= (p.Met635=) | |
17 | g.42322421G>A | CA8575181 | STAT3 | c.1962C>T (p.Ile654=) c.*354C>T (n.*354C>T) c.1935C>T (p.Ile645=) n.1415C>T c.*350C>T (n.*350C>T) c.2058C>T (p.Ile686=) n.2162C>T c.1941C>T (p.Ile647=) c.1878C>T (p.Ile626=) c.1977C>T (p.Ile659=) n.2399C>T c.1866C>T (p.Ile622=) n.2379C>T n.2205C>T c.1668C>T (p.Ile556=) c.1884C>T (p.Ile628=) c.1902C>T (p.Ile634=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42322421G>C | CA399582138 | STAT3 | c.1962C>G (p.Ile654Met) c.*354C>G (n.*354C>G) c.1935C>G (p.Ile645Met) n.1415C>G c.*350C>G (n.*350C>G) c.2058C>G (p.Ile686Met) n.2162C>G c.1941C>G (p.Ile647Met) c.1878C>G (p.Ile626Met) c.1977C>G (p.Ile659Met) n.2399C>G c.1866C>G (p.Ile622Met) n.2379C>G n.2205C>G c.1668C>G (p.Ile556Met) c.1884C>G (p.Ile628Met) c.1902C>G (p.Ile634Met) | dbSNP |
17 | g.42322421G= | CA2260430739 | STAT3 | c.1962C= (p.Ile654=) c.*354C= (n.*354C=) c.1935C= (p.Ile645=) n.1415C= c.*350C= (n.*350C=) c.2058C= (p.Ile686=) n.2162C= c.1941C= (p.Ile647=) c.1878C= (p.Ile626=) c.1977C= (p.Ile659=) n.2399C= c.1866C= (p.Ile622=) n.2379C= n.2205C= c.1668C= (p.Ile556=) c.1884C= (p.Ile628=) c.1902C= (p.Ile634=) | |
17 | g.42322421G>T | CA500061086 | STAT3 | c.1962C>A (p.Ile654=) c.*354C>A (n.*354C>A) c.1935C>A (p.Ile645=) n.1415C>A c.*350C>A (n.*350C>A) c.2058C>A (p.Ile686=) n.2162C>A c.1941C>A (p.Ile647=) c.1878C>A (p.Ile626=) c.1977C>A (p.Ile659=) n.2399C>A c.1866C>A (p.Ile622=) n.2379C>A n.2205C>A c.1668C>A (p.Ile556=) c.1884C>A (p.Ile628=) c.1902C>A (p.Ile634=) | dbSNP |
17 | g.42322422A>C | CA399582146 | STAT3 | c.1961T>G (p.Ile654Ser) c.*353T>G (n.*353T>G) c.1934T>G (p.Ile645Ser) n.1414T>G c.*349T>G (n.*349T>G) c.2057T>G (p.Ile686Ser) n.2161T>G c.1940T>G (p.Ile647Ser) c.1877T>G (p.Ile626Ser) c.1976T>G (p.Ile659Ser) n.2398T>G c.1865T>G (p.Ile622Ser) n.2378T>G n.2204T>G c.1667T>G (p.Ile556Ser) c.1883T>G (p.Ile628Ser) c.1901T>G (p.Ile634Ser) | |
17 | g.42322422A>G | CA399582149 | STAT3 | c.1961T>C (p.Ile654Thr) c.*353T>C (n.*353T>C) c.1934T>C (p.Ile645Thr) n.1414T>C c.*349T>C (n.*349T>C) c.2057T>C (p.Ile686Thr) n.2161T>C c.1940T>C (p.Ile647Thr) c.1877T>C (p.Ile626Thr) c.1976T>C (p.Ile659Thr) n.2398T>C c.1865T>C (p.Ile622Thr) n.2378T>C n.2204T>C c.1667T>C (p.Ile556Thr) c.1883T>C (p.Ile628Thr) c.1901T>C (p.Ile634Thr) | dbSNP COSMIC |
17 | g.42322422A>T | CA399582152 | STAT3 | c.1961T>A (p.Ile654Asn) c.*353T>A (n.*353T>A) c.1934T>A (p.Ile645Asn) n.1414T>A c.*349T>A (n.*349T>A) c.2057T>A (p.Ile686Asn) n.2161T>A c.1940T>A (p.Ile647Asn) c.1877T>A (p.Ile626Asn) c.1976T>A (p.Ile659Asn) n.2398T>A c.1865T>A (p.Ile622Asn) n.2378T>A n.2204T>A c.1667T>A (p.Ile556Asn) c.1883T>A (p.Ile628Asn) c.1901T>A (p.Ile634Asn) | dbSNP |
17 | g.42322423T>A | CA399582159 | STAT3 | c.1960A>T (p.Ile654Phe) c.*352A>T (n.*352A>T) c.1933A>T (p.Ile645Phe) n.1413A>T c.*348A>T (n.*348A>T) c.2056A>T (p.Ile686Phe) n.2160A>T c.1939A>T (p.Ile647Phe) c.1876A>T (p.Ile626Phe) c.1975A>T (p.Ile659Phe) n.2397A>T c.1864A>T (p.Ile622Phe) n.2377A>T n.2203A>T c.1666A>T (p.Ile556Phe) c.1882A>T (p.Ile628Phe) c.1900A>T (p.Ile634Phe) | dbSNP |
17 | g.42322423T>C | CA399582162 | STAT3 | c.1960A>G (p.Ile654Val) c.*352A>G (n.*352A>G) c.1933A>G (p.Ile645Val) n.1413A>G c.*348A>G (n.*348A>G) c.2056A>G (p.Ile686Val) n.2160A>G c.1939A>G (p.Ile647Val) c.1876A>G (p.Ile626Val) c.1975A>G (p.Ile659Val) n.2397A>G c.1864A>G (p.Ile622Val) n.2377A>G n.2203A>G c.1666A>G (p.Ile556Val) c.1882A>G (p.Ile628Val) c.1900A>G (p.Ile634Val) | dbSNP |
17 | g.42322423T>G | CA399582155 | STAT3 | c.1960A>C (p.Ile654Leu) c.*352A>C (n.*352A>C) c.1933A>C (p.Ile645Leu) n.1413A>C c.*348A>C (n.*348A>C) c.2056A>C (p.Ile686Leu) n.2160A>C c.1939A>C (p.Ile647Leu) c.1876A>C (p.Ile626Leu) c.1975A>C (p.Ile659Leu) n.2397A>C c.1864A>C (p.Ile622Leu) n.2377A>C n.2203A>C c.1666A>C (p.Ile556Leu) c.1882A>C (p.Ile628Leu) c.1900A>C (p.Ile634Leu) | |
17 | g.42322424G>A | CA500061088 | STAT3 | c.1959C>T (p.Ile653=) c.*351C>T (n.*351C>T) c.1932C>T (p.Ile644=) n.1412C>T c.*347C>T (n.*347C>T) c.2055C>T (p.Ile685=) n.2159C>T c.1938C>T (p.Ile646=) c.1875C>T (p.Ile625=) c.1974C>T (p.Ile658=) n.2396C>T c.1863C>T (p.Ile621=) n.2376C>T n.2202C>T c.1665C>T (p.Ile555=) c.1881C>T (p.Ile627=) c.1899C>T (p.Ile633=) | dbSNP gnomAD v4 |
17 | g.42322424G>C | CA399582164 | STAT3 | c.1959C>G (p.Ile653Met) c.*351C>G (n.*351C>G) c.1932C>G (p.Ile644Met) n.1412C>G c.*347C>G (n.*347C>G) c.2055C>G (p.Ile685Met) n.2159C>G c.1938C>G (p.Ile646Met) c.1875C>G (p.Ile625Met) c.1974C>G (p.Ile658Met) n.2396C>G c.1863C>G (p.Ile621Met) n.2376C>G n.2202C>G c.1665C>G (p.Ile555Met) c.1881C>G (p.Ile627Met) c.1899C>G (p.Ile633Met) | dbSNP |
17 | g.42322424G>T | CA500061087 | STAT3 | c.1959C>A (p.Ile653=) c.*351C>A (n.*351C>A) c.1932C>A (p.Ile644=) n.1412C>A c.*347C>A (n.*347C>A) c.2055C>A (p.Ile685=) n.2159C>A c.1938C>A (p.Ile646=) c.1875C>A (p.Ile625=) c.1974C>A (p.Ile658=) n.2396C>A c.1863C>A (p.Ile621=) n.2376C>A n.2202C>A c.1665C>A (p.Ile555=) c.1881C>A (p.Ile627=) c.1899C>A (p.Ile633=) | dbSNP |
17 | g.42322425A>C | CA399582168 | STAT3 | c.1958T>G (p.Ile653Ser) c.*350T>G (n.*350T>G) c.1931T>G (p.Ile644Ser) n.1411T>G c.*346T>G (n.*346T>G) c.2054T>G (p.Ile685Ser) n.2158T>G c.1937T>G (p.Ile646Ser) c.1874T>G (p.Ile625Ser) c.1973T>G (p.Ile658Ser) n.2395T>G c.1862T>G (p.Ile621Ser) n.2375T>G n.2201T>G c.1664T>G (p.Ile555Ser) c.1880T>G (p.Ile627Ser) c.1898T>G (p.Ile633Ser) | dbSNP |
17 | g.42322425A>G | CA399582169 | STAT3 | c.1958T>C (p.Ile653Thr) c.*350T>C (n.*350T>C) c.1931T>C (p.Ile644Thr) n.1411T>C c.*346T>C (n.*346T>C) c.2054T>C (p.Ile685Thr) n.2158T>C c.1937T>C (p.Ile646Thr) c.1874T>C (p.Ile625Thr) c.1973T>C (p.Ile658Thr) n.2395T>C c.1862T>C (p.Ile621Thr) n.2375T>C n.2201T>C c.1664T>C (p.Ile555Thr) c.1880T>C (p.Ile627Thr) c.1898T>C (p.Ile633Thr) | |
17 | g.42322425A>T | CA399582170 | STAT3 | c.1958T>A (p.Ile653Asn) c.*350T>A (n.*350T>A) c.1931T>A (p.Ile644Asn) n.1411T>A c.*346T>A (n.*346T>A) c.2054T>A (p.Ile685Asn) n.2158T>A c.1937T>A (p.Ile646Asn) c.1874T>A (p.Ile625Asn) c.1973T>A (p.Ile658Asn) n.2395T>A c.1862T>A (p.Ile621Asn) n.2375T>A n.2201T>A c.1664T>A (p.Ile555Asn) c.1880T>A (p.Ile627Asn) c.1898T>A (p.Ile633Asn) | dbSNP |
17 | g.42322426T>A | CA399582171 | STAT3 | c.1957A>T (p.Ile653Phe) c.*349A>T (n.*349A>T) c.1930A>T (p.Ile644Phe) n.1410A>T c.*345A>T (n.*345A>T) c.2053A>T (p.Ile685Phe) n.2157A>T c.1936A>T (p.Ile646Phe) c.1873A>T (p.Ile625Phe) c.1972A>T (p.Ile658Phe) n.2394A>T c.1861A>T (p.Ile621Phe) n.2374A>T n.2200A>T c.1663A>T (p.Ile555Phe) c.1879A>T (p.Ile627Phe) c.1897A>T (p.Ile633Phe) | dbSNP COSMIC |
17 | g.42322426T>C | CA399582173 | STAT3 | c.1957A>G (p.Ile653Val) c.*349A>G (n.*349A>G) c.1930A>G (p.Ile644Val) n.1410A>G c.*345A>G (n.*345A>G) c.2053A>G (p.Ile685Val) n.2157A>G c.1936A>G (p.Ile646Val) c.1873A>G (p.Ile625Val) c.1972A>G (p.Ile658Val) n.2394A>G c.1861A>G (p.Ile621Val) n.2374A>G n.2200A>G c.1663A>G (p.Ile555Val) c.1879A>G (p.Ile627Val) c.1897A>G (p.Ile633Val) | COSMIC |
17 | g.42322426T>G | CA399582175 | STAT3 | c.1957A>C (p.Ile653Leu) c.*349A>C (n.*349A>C) c.1930A>C (p.Ile644Leu) n.1410A>C c.*345A>C (n.*345A>C) c.2053A>C (p.Ile685Leu) n.2157A>C c.1936A>C (p.Ile646Leu) c.1873A>C (p.Ile625Leu) c.1972A>C (p.Ile658Leu) n.2394A>C c.1861A>C (p.Ile621Leu) n.2374A>C n.2200A>C c.1663A>C (p.Ile555Leu) c.1879A>C (p.Ile627Leu) c.1897A>C (p.Ile633Leu) | dbSNP |
17 | g.42322427T>A | CA399582181 | STAT3 | c.1956A>T (p.Glu652Asp) c.*348A>T (n.*348A>T) c.1929A>T (p.Glu643Asp) n.1409A>T c.*344A>T (n.*344A>T) c.2052A>T (p.Glu684Asp) n.2156A>T c.1935A>T (p.Glu645Asp) c.1872A>T (p.Glu624Asp) c.1971A>T (p.Glu657Asp) n.2393A>T c.1860A>T (p.Glu620Asp) n.2373A>T n.2199A>T c.1662A>T (p.Glu554Asp) c.1878A>T (p.Glu626Asp) c.1896A>T (p.Glu632Asp) | dbSNP |
17 | g.42322427T>C | CA500061089 | STAT3 | c.1956A>G (p.Glu652=) c.*348A>G (n.*348A>G) c.1929A>G (p.Glu643=) n.1409A>G c.*344A>G (n.*344A>G) c.2052A>G (p.Glu684=) n.2156A>G c.1935A>G (p.Glu645=) c.1872A>G (p.Glu624=) c.1971A>G (p.Glu657=) n.2393A>G c.1860A>G (p.Glu620=) n.2373A>G n.2199A>G c.1662A>G (p.Glu554=) c.1878A>G (p.Glu626=) c.1896A>G (p.Glu632=) | |
17 | g.42322427T>G | CA399582184 | STAT3 | c.1956A>C (p.Glu652Asp) c.*348A>C (n.*348A>C) c.1929A>C (p.Glu643Asp) n.1409A>C c.*344A>C (n.*344A>C) c.2052A>C (p.Glu684Asp) n.2156A>C c.1935A>C (p.Glu645Asp) c.1872A>C (p.Glu624Asp) c.1971A>C (p.Glu657Asp) n.2393A>C c.1860A>C (p.Glu620Asp) n.2373A>C n.2199A>C c.1662A>C (p.Glu554Asp) c.1878A>C (p.Glu626Asp) c.1896A>C (p.Glu632Asp) | |
17 | g.42322428T>A | CA399582187 | STAT3 | c.1955A>T (p.Glu652Val) c.*347A>T (n.*347A>T) c.1928A>T (p.Glu643Val) n.1408A>T c.*343A>T (n.*343A>T) c.2051A>T (p.Glu684Val) n.2155A>T c.1934A>T (p.Glu645Val) c.1871A>T (p.Glu624Val) c.1970A>T (p.Glu657Val) n.2392A>T c.1859A>T (p.Glu620Val) n.2372A>T n.2198A>T c.1661A>T (p.Glu554Val) c.1877A>T (p.Glu626Val) c.1895A>T (p.Glu632Val) | dbSNP |
17 | g.42322428T>C | CA399582191 | STAT3 | c.1955A>G (p.Glu652Gly) c.*347A>G (n.*347A>G) c.1928A>G (p.Glu643Gly) n.1408A>G c.*343A>G (n.*343A>G) c.2051A>G (p.Glu684Gly) n.2155A>G c.1934A>G (p.Glu645Gly) c.1871A>G (p.Glu624Gly) c.1970A>G (p.Glu657Gly) n.2392A>G c.1859A>G (p.Glu620Gly) n.2372A>G n.2198A>G c.1661A>G (p.Glu554Gly) c.1877A>G (p.Glu626Gly) c.1895A>G (p.Glu632Gly) | ClinVar |
17 | g.42322428T>G | CA399582195 | STAT3 | c.1955A>C (p.Glu652Ala) c.*347A>C (n.*347A>C) c.1928A>C (p.Glu643Ala) n.1408A>C c.*343A>C (n.*343A>C) c.2051A>C (p.Glu684Ala) n.2155A>C c.1934A>C (p.Glu645Ala) c.1871A>C (p.Glu624Ala) c.1970A>C (p.Glu657Ala) n.2392A>C c.1859A>C (p.Glu620Ala) n.2372A>C n.2198A>C c.1661A>C (p.Glu554Ala) c.1877A>C (p.Glu626Ala) c.1895A>C (p.Glu632Ala) | |
17 | g.42322429C>A | CA399582204 | STAT3 | c.1954G>T (p.Glu652Ter) c.*346G>T (n.*346G>T) c.1927G>T (p.Glu643Ter) n.1407G>T c.*342G>T (n.*342G>T) c.2050G>T (p.Glu684Ter) n.2154G>T c.1933G>T (p.Glu645Ter) c.1870G>T (p.Glu624Ter) c.1969G>T (p.Glu657Ter) n.2391G>T c.1858G>T (p.Glu620Ter) n.2371G>T n.2197G>T c.1660G>T (p.Glu554Ter) c.1876G>T (p.Glu626Ter) c.1894G>T (p.Glu632Ter) | dbSNP |
17 | g.42322429C= | CA2260430740 | STAT3 | c.1954G= (p.Glu652=) c.*346G= (n.*346G=) c.1927G= (p.Glu643=) n.1407G= c.*342G= (n.*342G=) c.2050G= (p.Glu684=) n.2154G= c.1933G= (p.Glu645=) c.1870G= (p.Glu624=) c.1969G= (p.Glu657=) n.2391G= c.1858G= (p.Glu620=) n.2371G= n.2197G= c.1660G= (p.Glu554=) c.1876G= (p.Glu626=) c.1894G= (p.Glu632=) | |
17 | g.42322429C>G | CA399582207 | STAT3 | c.1954G>C (p.Glu652Gln) c.*346G>C (n.*346G>C) c.1927G>C (p.Glu643Gln) n.1407G>C c.*342G>C (n.*342G>C) c.2050G>C (p.Glu684Gln) n.2154G>C c.1933G>C (p.Glu645Gln) c.1870G>C (p.Glu624Gln) c.1969G>C (p.Glu657Gln) n.2391G>C c.1858G>C (p.Glu620Gln) n.2371G>C n.2197G>C c.1660G>C (p.Glu554Gln) c.1876G>C (p.Glu626Gln) c.1894G>C (p.Glu632Gln) | dbSNP |
17 | g.42322429C>T | CA399582201 | STAT3 | c.1954G>A (p.Glu652Lys) c.*346G>A (n.*346G>A) c.1927G>A (p.Glu643Lys) n.1407G>A c.*342G>A (n.*342G>A) c.2050G>A (p.Glu684Lys) n.2154G>A c.1933G>A (p.Glu645Lys) c.1870G>A (p.Glu624Lys) c.1969G>A (p.Glu657Lys) n.2391G>A c.1858G>A (p.Glu620Lys) n.2371G>A n.2197G>A c.1660G>A (p.Glu554Lys) c.1876G>A (p.Glu626Lys) c.1894G>A (p.Glu632Lys) | dbSNP COSMIC |
17 | g.42322430A>C | CA500061090 | STAT3 | c.1953T>G (p.Ala651=) c.*345T>G (n.*345T>G) c.1926T>G (p.Ala642=) n.1406T>G c.*341T>G (n.*341T>G) c.2049T>G (p.Ala683=) n.2153T>G c.1932T>G (p.Ala644=) c.1869T>G (p.Ala623=) c.1968T>G (p.Ala656=) n.2390T>G c.1857T>G (p.Ala619=) n.2370T>G n.2196T>G c.1659T>G (p.Ala553=) c.1875T>G (p.Ala625=) c.1893T>G (p.Ala631=) | |
17 | g.42322430A>G | CA500061092 | STAT3 | c.1953T>C (p.Ala651=) c.*345T>C (n.*345T>C) c.1926T>C (p.Ala642=) n.1406T>C c.*341T>C (n.*341T>C) c.2049T>C (p.Ala683=) n.2153T>C c.1932T>C (p.Ala644=) c.1869T>C (p.Ala623=) c.1968T>C (p.Ala656=) n.2390T>C c.1857T>C (p.Ala619=) n.2370T>C n.2196T>C c.1659T>C (p.Ala553=) c.1875T>C (p.Ala625=) c.1893T>C (p.Ala631=) | dbSNP COSMIC |
17 | g.42322430A>T | CA500061091 | STAT3 | c.1953T>A (p.Ala651=) c.*345T>A (n.*345T>A) c.1926T>A (p.Ala642=) n.1406T>A c.*341T>A (n.*341T>A) c.2049T>A (p.Ala683=) n.2153T>A c.1932T>A (p.Ala644=) c.1869T>A (p.Ala623=) c.1968T>A (p.Ala656=) n.2390T>A c.1857T>A (p.Ala619=) n.2370T>A n.2196T>A c.1659T>A (p.Ala553=) c.1875T>A (p.Ala625=) c.1893T>A (p.Ala631=) | dbSNP |
17 | g.42322431G>A | CA399582216 | STAT3 | c.1952C>T (p.Ala651Val) c.*344C>T (n.*344C>T) c.1925C>T (p.Ala642Val) n.1405C>T c.*340C>T (n.*340C>T) c.2048C>T (p.Ala683Val) n.2152C>T c.1931C>T (p.Ala644Val) c.1868C>T (p.Ala623Val) c.1967C>T (p.Ala656Val) n.2389C>T c.1856C>T (p.Ala619Val) n.2369C>T n.2195C>T c.1658C>T (p.Ala553Val) c.1874C>T (p.Ala625Val) c.1892C>T (p.Ala631Val) | dbSNP |
17 | g.42322431G>C | CA399582217 | STAT3 | c.1952C>G (p.Ala651Gly) c.*344C>G (n.*344C>G) c.1925C>G (p.Ala642Gly) n.1405C>G c.*340C>G (n.*340C>G) c.2048C>G (p.Ala683Gly) n.2152C>G c.1931C>G (p.Ala644Gly) c.1868C>G (p.Ala623Gly) c.1967C>G (p.Ala656Gly) n.2389C>G c.1856C>G (p.Ala619Gly) n.2369C>G n.2195C>G c.1658C>G (p.Ala553Gly) c.1874C>G (p.Ala625Gly) c.1892C>G (p.Ala631Gly) | dbSNP gnomAD v4 |
17 | g.42322431G>T | CA399582218 | STAT3 | c.1952C>A (p.Ala651Asp) c.*344C>A (n.*344C>A) c.1925C>A (p.Ala642Asp) n.1405C>A c.*340C>A (n.*340C>A) c.2048C>A (p.Ala683Asp) n.2152C>A c.1931C>A (p.Ala644Asp) c.1868C>A (p.Ala623Asp) c.1967C>A (p.Ala656Asp) n.2389C>A c.1856C>A (p.Ala619Asp) n.2369C>A n.2195C>A c.1658C>A (p.Ala553Asp) c.1874C>A (p.Ala625Asp) c.1892C>A (p.Ala631Asp) | dbSNP |
17 | g.42322432C>A | CA399582219 | STAT3 | c.1951G>T (p.Ala651Ser) c.*343G>T (n.*343G>T) c.1924G>T (p.Ala642Ser) n.1404G>T c.*339G>T (n.*339G>T) c.2047G>T (p.Ala683Ser) n.2151G>T c.1930G>T (p.Ala644Ser) c.1867G>T (p.Ala623Ser) c.1966G>T (p.Ala656Ser) n.2388G>T c.1855G>T (p.Ala619Ser) n.2368G>T n.2194G>T c.1657G>T (p.Ala553Ser) c.1873G>T (p.Ala625Ser) c.1891G>T (p.Ala631Ser) | |
17 | g.42322432C>G | CA399582221 | STAT3 | c.1951G>C (p.Ala651Pro) c.*343G>C (n.*343G>C) c.1924G>C (p.Ala642Pro) n.1404G>C c.*339G>C (n.*339G>C) c.2047G>C (p.Ala683Pro) n.2151G>C c.1930G>C (p.Ala644Pro) c.1867G>C (p.Ala623Pro) c.1966G>C (p.Ala656Pro) n.2388G>C c.1855G>C (p.Ala619Pro) n.2368G>C n.2194G>C c.1657G>C (p.Ala553Pro) c.1873G>C (p.Ala625Pro) c.1891G>C (p.Ala631Pro) | |
17 | g.42322432C>T | CA399582223 | STAT3 | c.1951G>A (p.Ala651Thr) c.*343G>A (n.*343G>A) c.1924G>A (p.Ala642Thr) n.1404G>A c.*339G>A (n.*339G>A) c.2047G>A (p.Ala683Thr) n.2151G>A c.1930G>A (p.Ala644Thr) c.1867G>A (p.Ala623Thr) c.1966G>A (p.Ala656Thr) n.2388G>A c.1855G>A (p.Ala619Thr) n.2368G>A n.2194G>A c.1657G>A (p.Ala553Thr) c.1873G>A (p.Ala625Thr) c.1891G>A (p.Ala631Thr) | |
17 | g.42322433A>C | CA399582224 | STAT3 | c.1950T>G (p.Phe650Leu) c.*342T>G (n.*342T>G) c.1923T>G (p.Phe641Leu) n.1403T>G c.*338T>G (n.*338T>G) c.2046T>G (p.Phe682Leu) n.2150T>G c.1929T>G (p.Phe643Leu) c.1866T>G (p.Phe622Leu) c.1965T>G (p.Phe655Leu) n.2387T>G c.1854T>G (p.Phe618Leu) n.2367T>G n.2193T>G c.1656T>G (p.Phe552Leu) c.1872T>G (p.Phe624Leu) c.1890T>G (p.Phe630Leu) | |
17 | g.42322433A>G | CA500061093 | STAT3 | c.1950T>C (p.Phe650=) c.*342T>C (n.*342T>C) c.1923T>C (p.Phe641=) n.1403T>C c.*338T>C (n.*338T>C) c.2046T>C (p.Phe682=) n.2150T>C c.1929T>C (p.Phe643=) c.1866T>C (p.Phe622=) c.1965T>C (p.Phe655=) n.2387T>C c.1854T>C (p.Phe618=) n.2367T>C n.2193T>C c.1656T>C (p.Phe552=) c.1872T>C (p.Phe624=) c.1890T>C (p.Phe630=) | |
17 | g.42322433A>T | CA399582225 | STAT3 | c.1950T>A (p.Phe650Leu) c.*342T>A (n.*342T>A) c.1923T>A (p.Phe641Leu) n.1403T>A c.*338T>A (n.*338T>A) c.2046T>A (p.Phe682Leu) n.2150T>A c.1929T>A (p.Phe643Leu) c.1866T>A (p.Phe622Leu) c.1965T>A (p.Phe655Leu) n.2387T>A c.1854T>A (p.Phe618Leu) n.2367T>A n.2193T>A c.1656T>A (p.Phe552Leu) c.1872T>A (p.Phe624Leu) c.1890T>A (p.Phe630Leu) | |
17 | g.42322434A>C | CA399582228 | STAT3 | c.1949T>G (p.Phe650Cys) c.*341T>G (n.*341T>G) c.1922T>G (p.Phe641Cys) n.1402T>G c.*337T>G (n.*337T>G) c.2045T>G (p.Phe682Cys) n.2149T>G c.1928T>G (p.Phe643Cys) c.1865T>G (p.Phe622Cys) c.1964T>G (p.Phe655Cys) n.2386T>G c.1853T>G (p.Phe618Cys) n.2366T>G n.2192T>G c.1655T>G (p.Phe552Cys) c.1871T>G (p.Phe624Cys) c.1889T>G (p.Phe630Cys) | |
17 | g.42322434A>G | CA399582230 | STAT3 | c.1949T>C (p.Phe650Ser) c.*341T>C (n.*341T>C) c.1922T>C (p.Phe641Ser) n.1402T>C c.*337T>C (n.*337T>C) c.2045T>C (p.Phe682Ser) n.2149T>C c.1928T>C (p.Phe643Ser) c.1865T>C (p.Phe622Ser) c.1964T>C (p.Phe655Ser) n.2386T>C c.1853T>C (p.Phe618Ser) n.2366T>C n.2192T>C c.1655T>C (p.Phe552Ser) c.1871T>C (p.Phe624Ser) c.1889T>C (p.Phe630Ser) | |
17 | g.42322434A>T | CA399582234 | STAT3 | c.1949T>A (p.Phe650Tyr) c.*341T>A (n.*341T>A) c.1922T>A (p.Phe641Tyr) n.1402T>A c.*337T>A (n.*337T>A) c.2045T>A (p.Phe682Tyr) n.2149T>A c.1928T>A (p.Phe643Tyr) c.1865T>A (p.Phe622Tyr) c.1964T>A (p.Phe655Tyr) n.2386T>A c.1853T>A (p.Phe618Tyr) n.2366T>A n.2192T>A c.1655T>A (p.Phe552Tyr) c.1871T>A (p.Phe624Tyr) c.1889T>A (p.Phe630Tyr) | dbSNP |
17 | g.42322435A>C | CA399582236 | STAT3 | c.1948T>G (p.Phe650Val) c.*340T>G (n.*340T>G) c.1921T>G (p.Phe641Val) n.1401T>G c.*336T>G (n.*336T>G) c.2044T>G (p.Phe682Val) n.2148T>G c.1927T>G (p.Phe643Val) c.1864T>G (p.Phe622Val) c.1963T>G (p.Phe655Val) n.2385T>G c.1852T>G (p.Phe618Val) n.2365T>G n.2191T>G c.1654T>G (p.Phe552Val) c.1870T>G (p.Phe624Val) c.1888T>G (p.Phe630Val) | dbSNP |
17 | g.42322435A>G | CA399582238 | STAT3 | c.1948T>C (p.Phe650Leu) c.*340T>C (n.*340T>C) c.1921T>C (p.Phe641Leu) n.1401T>C c.*336T>C (n.*336T>C) c.2044T>C (p.Phe682Leu) n.2148T>C c.1927T>C (p.Phe643Leu) c.1864T>C (p.Phe622Leu) c.1963T>C (p.Phe655Leu) n.2385T>C c.1852T>C (p.Phe618Leu) n.2365T>C n.2191T>C c.1654T>C (p.Phe552Leu) c.1870T>C (p.Phe624Leu) c.1888T>C (p.Phe630Leu) | |
17 | g.42322435A>T | CA399582242 | STAT3 | c.1948T>A (p.Phe650Ile) c.*340T>A (n.*340T>A) c.1921T>A (p.Phe641Ile) n.1401T>A c.*336T>A (n.*336T>A) c.2044T>A (p.Phe682Ile) n.2148T>A c.1927T>A (p.Phe643Ile) c.1864T>A (p.Phe622Ile) c.1963T>A (p.Phe655Ile) n.2385T>A c.1852T>A (p.Phe618Ile) n.2365T>A n.2191T>A c.1654T>A (p.Phe552Ile) c.1870T>A (p.Phe624Ile) c.1888T>A (p.Phe630Ile) | dbSNP |
17 | g.42322436T>A | CA500061096 | STAT3 | c.1947A>T (p.Ser649=) c.*339A>T (n.*339A>T) c.1920A>T (p.Ser640=) n.1400A>T c.*335A>T (n.*335A>T) c.2043A>T (p.Ser681=) n.2147A>T c.1926A>T (p.Ser642=) c.1863A>T (p.Ser621=) c.1962A>T (p.Ser654=) n.2384A>T c.1851A>T (p.Ser617=) n.2364A>T n.2190A>T c.1653A>T (p.Ser551=) c.1869A>T (p.Ser623=) c.1887A>T (p.Ser629=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42322436T>C | CA500061094 | STAT3 | c.1947A>G (p.Ser649=) c.*339A>G (n.*339A>G) c.1920A>G (p.Ser640=) n.1400A>G c.*335A>G (n.*335A>G) c.2043A>G (p.Ser681=) n.2147A>G c.1926A>G (p.Ser642=) c.1863A>G (p.Ser621=) c.1962A>G (p.Ser654=) n.2384A>G c.1851A>G (p.Ser617=) n.2364A>G n.2190A>G c.1653A>G (p.Ser551=) c.1869A>G (p.Ser623=) c.1887A>G (p.Ser629=) | dbSNP |
17 | g.42322436T>G | CA500061095 | STAT3 | c.1947A>C (p.Ser649=) c.*339A>C (n.*339A>C) c.1920A>C (p.Ser640=) n.1400A>C c.*335A>C (n.*335A>C) c.2043A>C (p.Ser681=) n.2147A>C c.1926A>C (p.Ser642=) c.1863A>C (p.Ser621=) c.1962A>C (p.Ser654=) n.2384A>C c.1851A>C (p.Ser617=) n.2364A>C n.2190A>C c.1653A>C (p.Ser551=) c.1869A>C (p.Ser623=) c.1887A>C (p.Ser629=) | dbSNP |
17 | g.42322436T= | CA2260430741 | STAT3 | c.1947A= (p.Ser649=) c.*339A= (n.*339A=) c.1920A= (p.Ser640=) n.1400A= c.*335A= (n.*335A=) c.2043A= (p.Ser681=) n.2147A= c.1926A= (p.Ser642=) c.1863A= (p.Ser621=) c.1962A= (p.Ser654=) n.2384A= c.1851A= (p.Ser617=) n.2364A= n.2190A= c.1653A= (p.Ser551=) c.1869A= (p.Ser623=) c.1887A= (p.Ser629=) | |
17 | g.42322437G>A | CA399582250 | STAT3 | c.1946C>T (p.Ser649Leu) c.*338C>T (n.*338C>T) c.1919C>T (p.Ser640Leu) n.1399C>T c.*334C>T (n.*334C>T) c.2042C>T (p.Ser681Leu) n.2146C>T c.1925C>T (p.Ser642Leu) c.1862C>T (p.Ser621Leu) c.1961C>T (p.Ser654Leu) n.2383C>T c.1850C>T (p.Ser617Leu) n.2363C>T n.2189C>T c.1652C>T (p.Ser551Leu) c.1868C>T (p.Ser623Leu) c.1886C>T (p.Ser629Leu) | dbSNP COSMIC |
17 | g.42322437G>C | CA399582252 | STAT3 | c.1946C>G (p.Ser649Ter) c.*338C>G (n.*338C>G) c.1919C>G (p.Ser640Ter) n.1399C>G c.*334C>G (n.*334C>G) c.2042C>G (p.Ser681Ter) n.2146C>G c.1925C>G (p.Ser642Ter) c.1862C>G (p.Ser621Ter) c.1961C>G (p.Ser654Ter) n.2383C>G c.1850C>G (p.Ser617Ter) n.2363C>G n.2189C>G c.1652C>G (p.Ser551Ter) c.1868C>G (p.Ser623Ter) c.1886C>G (p.Ser629Ter) | dbSNP COSMIC |
17 | g.42322437G>T | CA399582247 | STAT3 | c.1946C>A (p.Ser649Ter) c.*338C>A (n.*338C>A) c.1919C>A (p.Ser640Ter) n.1399C>A c.*334C>A (n.*334C>A) c.2042C>A (p.Ser681Ter) n.2146C>A c.1925C>A (p.Ser642Ter) c.1862C>A (p.Ser621Ter) c.1961C>A (p.Ser654Ter) n.2383C>A c.1850C>A (p.Ser617Ter) n.2363C>A n.2189C>A c.1652C>A (p.Ser551Ter) c.1868C>A (p.Ser623Ter) c.1886C>A (p.Ser629Ter) | |
17 | g.42322438A>C | CA399582262 | STAT3 | c.1945T>G (p.Ser649Ala) c.*337T>G (n.*337T>G) c.1918T>G (p.Ser640Ala) n.1398T>G c.*333T>G (n.*333T>G) c.2041T>G (p.Ser681Ala) n.2145T>G c.1924T>G (p.Ser642Ala) c.1861T>G (p.Ser621Ala) c.1960T>G (p.Ser654Ala) n.2382T>G c.1849T>G (p.Ser617Ala) n.2362T>G n.2188T>G c.1651T>G (p.Ser551Ala) c.1867T>G (p.Ser623Ala) c.1885T>G (p.Ser629Ala) | dbSNP |
17 | g.42322438A>G | CA399582256 | STAT3 | c.1945T>C (p.Ser649Pro) c.*337T>C (n.*337T>C) c.1918T>C (p.Ser640Pro) n.1398T>C c.*333T>C (n.*333T>C) c.2041T>C (p.Ser681Pro) n.2145T>C c.1924T>C (p.Ser642Pro) c.1861T>C (p.Ser621Pro) c.1960T>C (p.Ser654Pro) n.2382T>C c.1849T>C (p.Ser617Pro) n.2362T>C n.2188T>C c.1651T>C (p.Ser551Pro) c.1867T>C (p.Ser623Pro) c.1885T>C (p.Ser629Pro) | ClinVar dbSNP |
17 | g.42322438A>T | CA399582258 | STAT3 | c.1945T>A (p.Ser649Thr) c.*337T>A (n.*337T>A) c.1918T>A (p.Ser640Thr) n.1398T>A c.*333T>A (n.*333T>A) c.2041T>A (p.Ser681Thr) n.2145T>A c.1924T>A (p.Ser642Thr) c.1861T>A (p.Ser621Thr) c.1960T>A (p.Ser654Thr) n.2382T>A c.1849T>A (p.Ser617Thr) n.2362T>A n.2188T>A c.1651T>A (p.Ser551Thr) c.1867T>A (p.Ser623Thr) c.1885T>A (p.Ser629Thr) | dbSNP |
17 | g.42322439C>A | CA399582267 | STAT3 | c.1944G>T (p.Met648Ile) c.*336G>T (n.*336G>T) c.1917G>T (p.Met639Ile) n.1397G>T c.*332G>T (n.*332G>T) c.2040G>T (p.Met680Ile) n.2144G>T c.1923G>T (p.Met641Ile) c.1860G>T (p.Met620Ile) c.1959G>T (p.Met653Ile) n.2381G>T c.1848G>T (p.Met616Ile) n.2361G>T n.2187G>T c.1650G>T (p.Met550Ile) c.1866G>T (p.Met622Ile) c.1884G>T (p.Met628Ile) | dbSNP |
17 | g.42322439C>G | CA399582270 | STAT3 | c.1944G>C (p.Met648Ile) c.*336G>C (n.*336G>C) c.1917G>C (p.Met639Ile) n.1397G>C c.*332G>C (n.*332G>C) c.2040G>C (p.Met680Ile) n.2144G>C c.1923G>C (p.Met641Ile) c.1860G>C (p.Met620Ile) c.1959G>C (p.Met653Ile) n.2381G>C c.1848G>C (p.Met616Ile) n.2361G>C n.2187G>C c.1650G>C (p.Met550Ile) c.1866G>C (p.Met622Ile) c.1884G>C (p.Met628Ile) | dbSNP |
17 | g.42322439C>T | CA399582274 | STAT3 | c.1944G>A (p.Met648Ile) c.*336G>A (n.*336G>A) c.1917G>A (p.Met639Ile) n.1397G>A c.*332G>A (n.*332G>A) c.2040G>A (p.Met680Ile) n.2144G>A c.1923G>A (p.Met641Ile) c.1860G>A (p.Met620Ile) c.1959G>A (p.Met653Ile) n.2381G>A c.1848G>A (p.Met616Ile) n.2361G>A n.2187G>A c.1650G>A (p.Met550Ile) c.1866G>A (p.Met622Ile) c.1884G>A (p.Met628Ile) | |
17 | g.42322440A= | CA2260430742 | STAT3 | c.1943T= (p.Met648=) c.*335T= (n.*335T=) c.1916T= (p.Met639=) n.1396T= c.*331T= (n.*331T=) c.2039T= (p.Met680=) n.2143T= c.1922T= (p.Met641=) c.1859T= (p.Met620=) c.1958T= (p.Met653=) n.2380T= c.1847T= (p.Met616=) n.2360T= n.2186T= c.1649T= (p.Met550=) c.1865T= (p.Met622=) c.1883T= (p.Met628=) | |
17 | g.42322440A>C | CA399582279 | STAT3 | c.1943T>G (p.Met648Arg) c.*335T>G (n.*335T>G) c.1916T>G (p.Met639Arg) n.1396T>G c.*331T>G (n.*331T>G) c.2039T>G (p.Met680Arg) n.2143T>G c.1922T>G (p.Met641Arg) c.1859T>G (p.Met620Arg) c.1958T>G (p.Met653Arg) n.2380T>G c.1847T>G (p.Met616Arg) n.2360T>G n.2186T>G c.1649T>G (p.Met550Arg) c.1865T>G (p.Met622Arg) c.1883T>G (p.Met628Arg) | |
17 | g.42322440A>G | CA399582284 | STAT3 | c.1943T>C (p.Met648Thr) c.*335T>C (n.*335T>C) c.1916T>C (p.Met639Thr) n.1396T>C c.*331T>C (n.*331T>C) c.2039T>C (p.Met680Thr) n.2143T>C c.1922T>C (p.Met641Thr) c.1859T>C (p.Met620Thr) c.1958T>C (p.Met653Thr) n.2380T>C c.1847T>C (p.Met616Thr) n.2360T>C n.2186T>C c.1649T>C (p.Met550Thr) c.1865T>C (p.Met622Thr) c.1883T>C (p.Met628Thr) | ClinVar |
17 | g.42322440A>T | CA16620410 | STAT3 | c.1943T>A (p.Met648Lys) c.*335T>A (n.*335T>A) c.1916T>A (p.Met639Lys) n.1396T>A c.*331T>A (n.*331T>A) c.2039T>A (p.Met680Lys) n.2143T>A c.1922T>A (p.Met641Lys) c.1859T>A (p.Met620Lys) c.1958T>A (p.Met653Lys) n.2380T>A c.1847T>A (p.Met616Lys) n.2360T>A n.2186T>A c.1649T>A (p.Met550Lys) c.1865T>A (p.Met622Lys) c.1883T>A (p.Met628Lys) | ClinVar dbSNP |
17 | g.42322441T>A | CA399582289 | STAT3 | c.1942A>T (p.Met648Leu) c.*334A>T (n.*334A>T) c.1915A>T (p.Met639Leu) n.1395A>T c.*330A>T (n.*330A>T) c.2038A>T (p.Met680Leu) n.2142A>T c.1921A>T (p.Met641Leu) c.1858A>T (p.Met620Leu) c.1957A>T (p.Met653Leu) n.2379A>T c.1846A>T (p.Met616Leu) n.2359A>T n.2185A>T c.1648A>T (p.Met550Leu) c.1864A>T (p.Met622Leu) c.1882A>T (p.Met628Leu) | dbSNP |
17 | g.42322441T>C | CA399582307 | STAT3 | c.1942A>G (p.Met648Val) c.*334A>G (n.*334A>G) c.1915A>G (p.Met639Val) n.1395A>G c.*330A>G (n.*330A>G) c.2038A>G (p.Met680Val) n.2142A>G c.1921A>G (p.Met641Val) c.1858A>G (p.Met620Val) c.1957A>G (p.Met653Val) n.2379A>G c.1846A>G (p.Met616Val) n.2359A>G n.2185A>G c.1648A>G (p.Met550Val) c.1864A>G (p.Met622Val) c.1882A>G (p.Met628Val) | dbSNP |
17 | g.42322441T>G | CA399582310 | STAT3 | c.1942A>C (p.Met648Leu) c.*334A>C (n.*334A>C) c.1915A>C (p.Met639Leu) n.1395A>C c.*330A>C (n.*330A>C) c.2038A>C (p.Met680Leu) n.2142A>C c.1921A>C (p.Met641Leu) c.1858A>C (p.Met620Leu) c.1957A>C (p.Met653Leu) n.2379A>C c.1846A>C (p.Met616Leu) n.2359A>C n.2185A>C c.1648A>C (p.Met550Leu) c.1864A>C (p.Met622Leu) c.1882A>C (p.Met628Leu) | |
17 | g.42322442G>A | CA500061097 | STAT3 | c.1941C>T (p.Asn647=) c.*333C>T (n.*333C>T) c.1914C>T (p.Asn638=) n.1394C>T c.*329C>T (n.*329C>T) c.2037C>T (p.Asn679=) n.2141C>T c.1920C>T (p.Asn640=) c.1857C>T (p.Asn619=) c.1956C>T (p.Asn652=) n.2378C>T c.1845C>T (p.Asn615=) n.2358C>T n.2184C>T c.1647C>T (p.Asn549=) c.1863C>T (p.Asn621=) c.1881C>T (p.Asn627=) | dbSNP |
17 | g.42322442G>C | CA399582314 | STAT3 | c.1941C>G (p.Asn647Lys) c.*333C>G (n.*333C>G) c.1914C>G (p.Asn638Lys) n.1394C>G c.*329C>G (n.*329C>G) c.2037C>G (p.Asn679Lys) n.2141C>G c.1920C>G (p.Asn640Lys) c.1857C>G (p.Asn619Lys) c.1956C>G (p.Asn652Lys) n.2378C>G c.1845C>G (p.Asn615Lys) n.2358C>G n.2184C>G c.1647C>G (p.Asn549Lys) c.1863C>G (p.Asn621Lys) c.1881C>G (p.Asn627Lys) | dbSNP |
17 | g.42322442G>T | CA399582318 | STAT3 | c.1941C>A (p.Asn647Lys) c.*333C>A (n.*333C>A) c.1914C>A (p.Asn638Lys) n.1394C>A c.*329C>A (n.*329C>A) c.2037C>A (p.Asn679Lys) n.2141C>A c.1920C>A (p.Asn640Lys) c.1857C>A (p.Asn619Lys) c.1956C>A (p.Asn652Lys) n.2378C>A c.1845C>A (p.Asn615Lys) n.2358C>A n.2184C>A c.1647C>A (p.Asn549Lys) c.1863C>A (p.Asn621Lys) c.1881C>A (p.Asn627Lys) | dbSNP |
17 | g.42322442_42322443delinsAA | CA2580093735 | STAT3 | c.1940_1941delinsTT (p.Asn647Ile) c.*332_*333delinsTT (n.*332_*333delinsTT) c.1913_1914delinsTT (p.Asn638Ile) n.1393_1394delinsTT c.*328_*329delinsTT (n.*328_*329delinsTT) c.2036_2037delinsTT (p.Asn679Ile) n.2140_2141delinsTT c.1919_1920delinsTT (p.Asn640Ile) c.1856_1857delinsTT (p.Asn619Ile) c.1955_1956delinsTT (p.Asn652Ile) n.2377_2378delinsTT c.1844_1845delinsTT (p.Asn615Ile) n.2357_2358delinsTT n.2183_2184delinsTT c.1646_1647delinsTT (p.Asn549Ile) c.1862_1863delinsTT (p.Asn621Ile) c.1880_1881delinsTT (p.Asn627Ile) | ClinVar |
17 | g.42322443T>A | CA8575182 | STAT3 | c.1940A>T (p.Asn647Ile) c.*332A>T (n.*332A>T) c.1913A>T (p.Asn638Ile) n.1393A>T c.*328A>T (n.*328A>T) c.2036A>T (p.Asn679Ile) n.2140A>T c.1919A>T (p.Asn640Ile) c.1856A>T (p.Asn619Ile) c.1955A>T (p.Asn652Ile) n.2377A>T c.1844A>T (p.Asn615Ile) n.2357A>T n.2183A>T c.1646A>T (p.Asn549Ile) c.1862A>T (p.Asn621Ile) c.1880A>T (p.Asn627Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42322443T>C | CA8575183 | STAT3 | c.1940A>G (p.Asn647Ser) c.*332A>G (n.*332A>G) c.1913A>G (p.Asn638Ser) n.1393A>G c.*328A>G (n.*328A>G) c.2036A>G (p.Asn679Ser) n.2140A>G c.1919A>G (p.Asn640Ser) c.1856A>G (p.Asn619Ser) c.1955A>G (p.Asn652Ser) n.2377A>G c.1844A>G (p.Asn615Ser) n.2357A>G n.2183A>G c.1646A>G (p.Asn549Ser) c.1862A>G (p.Asn621Ser) c.1880A>G (p.Asn627Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42322443T>G | CA399582322 | STAT3 | c.1940A>C (p.Asn647Thr) c.*332A>C (n.*332A>C) c.1913A>C (p.Asn638Thr) n.1393A>C c.*328A>C (n.*328A>C) c.2036A>C (p.Asn679Thr) n.2140A>C c.1919A>C (p.Asn640Thr) c.1856A>C (p.Asn619Thr) c.1955A>C (p.Asn652Thr) n.2377A>C c.1844A>C (p.Asn615Thr) n.2357A>C n.2183A>C c.1646A>C (p.Asn549Thr) c.1862A>C (p.Asn621Thr) c.1880A>C (p.Asn627Thr) | dbSNP |
17 | g.42322443T= | CA2260430743 | STAT3 | c.1940A= (p.Asn647=) c.*332A= (n.*332A=) c.1913A= (p.Asn638=) n.1393A= c.*328A= (n.*328A=) c.2036A= (p.Asn679=) n.2140A= c.1919A= (p.Asn640=) c.1856A= (p.Asn619=) c.1955A= (p.Asn652=) n.2377A= c.1844A= (p.Asn615=) n.2357A= n.2183A= c.1646A= (p.Asn549=) c.1862A= (p.Asn621=) c.1880A= (p.Asn627=) | |
17 | g.42322444T>A | CA399582330 | STAT3 | c.1939A>T (p.Asn647Tyr) c.*331A>T (n.*331A>T) c.1912A>T (p.Asn638Tyr) n.1392A>T c.*327A>T (n.*327A>T) c.2035A>T (p.Asn679Tyr) n.2139A>T c.1918A>T (p.Asn640Tyr) c.1855A>T (p.Asn619Tyr) c.1954A>T (p.Asn652Tyr) n.2376A>T c.1843A>T (p.Asn615Tyr) n.2356A>T n.2182A>T c.1645A>T (p.Asn549Tyr) c.1861A>T (p.Asn621Tyr) c.1879A>T (p.Asn627Tyr) | dbSNP COSMIC |
17 | g.42322444T>C | CA399582331 | STAT3 | c.1939A>G (p.Asn647Asp) c.*331A>G (n.*331A>G) c.1912A>G (p.Asn638Asp) n.1392A>G c.*327A>G (n.*327A>G) c.2035A>G (p.Asn679Asp) n.2139A>G c.1918A>G (p.Asn640Asp) c.1855A>G (p.Asn619Asp) c.1954A>G (p.Asn652Asp) n.2376A>G c.1843A>G (p.Asn615Asp) n.2356A>G n.2182A>G c.1645A>G (p.Asn549Asp) c.1861A>G (p.Asn621Asp) c.1879A>G (p.Asn627Asp) | |
17 | g.42322444T>G | CA399582334 | STAT3 | c.1939A>C (p.Asn647His) c.*331A>C (n.*331A>C) c.1912A>C (p.Asn638His) n.1392A>C c.*327A>C (n.*327A>C) c.2035A>C (p.Asn679His) n.2139A>C c.1918A>C (p.Asn640His) c.1855A>C (p.Asn619His) c.1954A>C (p.Asn652His) n.2376A>C c.1843A>C (p.Asn615His) n.2356A>C n.2182A>C c.1645A>C (p.Asn549His) c.1861A>C (p.Asn621His) c.1879A>C (p.Asn627His) | |
17 | g.42322445G>A | CA500061098 | STAT3 | c.1938C>T (p.Asn646=) c.*330C>T (n.*330C>T) c.1911C>T (p.Asn637=) n.1391C>T c.*326C>T (n.*326C>T) c.2034C>T (p.Asn678=) n.2138C>T c.1917C>T (p.Asn639=) c.1854C>T (p.Asn618=) c.1953C>T (p.Asn651=) n.2375C>T c.1842C>T (p.Asn614=) n.2355C>T n.2181C>T c.1644C>T (p.Asn548=) c.1860C>T (p.Asn620=) c.1878C>T (p.Asn626=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42322445G>C | CA170587 | STAT3 | c.1938C>G (p.Asn646Lys) c.*330C>G (n.*330C>G) c.1911C>G (p.Asn637Lys) n.1391C>G c.*326C>G (n.*326C>G) c.2034C>G (p.Asn678Lys) n.2138C>G c.1917C>G (p.Asn639Lys) c.1854C>G (p.Asn618Lys) c.1953C>G (p.Asn651Lys) n.2375C>G c.1842C>G (p.Asn614Lys) n.2355C>G n.2181C>G c.1644C>G (p.Asn548Lys) c.1860C>G (p.Asn620Lys) c.1878C>G (p.Asn626Lys) | ClinVar dbSNP |
17 | g.42322445G= | CA2260430744 | STAT3 | c.1938C= (p.Asn646=) c.*330C= (n.*330C=) c.1911C= (p.Asn637=) n.1391C= c.*326C= (n.*326C=) c.2034C= (p.Asn678=) n.2138C= c.1917C= (p.Asn639=) c.1854C= (p.Asn618=) c.1953C= (p.Asn651=) n.2375C= c.1842C= (p.Asn614=) n.2355C= n.2181C= c.1644C= (p.Asn548=) c.1860C= (p.Asn620=) c.1878C= (p.Asn626=) | |
17 | g.42322445G>T | CA399582341 | STAT3 | c.1938C>A (p.Asn646Lys) c.*330C>A (n.*330C>A) c.1911C>A (p.Asn637Lys) n.1391C>A c.*326C>A (n.*326C>A) c.2034C>A (p.Asn678Lys) n.2138C>A c.1917C>A (p.Asn639Lys) c.1854C>A (p.Asn618Lys) c.1953C>A (p.Asn651Lys) n.2375C>A c.1842C>A (p.Asn614Lys) n.2355C>A n.2181C>A c.1644C>A (p.Asn548Lys) c.1860C>A (p.Asn620Lys) c.1878C>A (p.Asn626Lys) | |
17 | g.42322446T>A | CA399582351 | STAT3 | c.1937A>T (p.Asn646Ile) c.*329A>T (n.*329A>T) c.1910A>T (p.Asn637Ile) n.1390A>T c.*325A>T (n.*325A>T) c.2033A>T (p.Asn678Ile) n.2137A>T c.1916A>T (p.Asn639Ile) c.1853A>T (p.Asn618Ile) c.1952A>T (p.Asn651Ile) n.2374A>T c.1841A>T (p.Asn614Ile) n.2354A>T n.2180A>T c.1643A>T (p.Asn548Ile) c.1859A>T (p.Asn620Ile) c.1877A>T (p.Asn626Ile) | dbSNP |
17 | g.42322446T>C | CA399582345 | STAT3 | c.1937A>G (p.Asn646Ser) c.*329A>G (n.*329A>G) c.1910A>G (p.Asn637Ser) n.1390A>G c.*325A>G (n.*325A>G) c.2033A>G (p.Asn678Ser) n.2137A>G c.1916A>G (p.Asn639Ser) c.1853A>G (p.Asn618Ser) c.1952A>G (p.Asn651Ser) n.2374A>G c.1841A>G (p.Asn614Ser) n.2354A>G n.2180A>G c.1643A>G (p.Asn548Ser) c.1859A>G (p.Asn620Ser) c.1877A>G (p.Asn626Ser) | dbSNP |
17 | g.42322446T>G | CA399582348 | STAT3 | c.1937A>C (p.Asn646Thr) c.*329A>C (n.*329A>C) c.1910A>C (p.Asn637Thr) n.1390A>C c.*325A>C (n.*325A>C) c.2033A>C (p.Asn678Thr) n.2137A>C c.1916A>C (p.Asn639Thr) c.1853A>C (p.Asn618Thr) c.1952A>C (p.Asn651Thr) n.2374A>C c.1841A>C (p.Asn614Thr) n.2354A>C n.2180A>C c.1643A>C (p.Asn548Thr) c.1859A>C (p.Asn620Thr) c.1877A>C (p.Asn626Thr) | dbSNP |
17 | g.42322446T= | CA2260430745 | STAT3 | c.1937A= (p.Asn646=) c.*329A= (n.*329A=) c.1910A= (p.Asn637=) n.1390A= c.*325A= (n.*325A=) c.2033A= (p.Asn678=) n.2137A= c.1916A= (p.Asn639=) c.1853A= (p.Asn618=) c.1952A= (p.Asn651=) n.2374A= c.1841A= (p.Asn614=) n.2354A= n.2180A= c.1643A= (p.Asn548=) c.1859A= (p.Asn620=) c.1877A= (p.Asn626=) | |
17 | g.42322447T>A | CA399582353 | STAT3 | c.1936A>T (p.Asn646Tyr) c.*328A>T (n.*328A>T) c.1909A>T (p.Asn637Tyr) n.1389A>T c.*324A>T (n.*324A>T) c.2032A>T (p.Asn678Tyr) n.2136A>T c.1915A>T (p.Asn639Tyr) c.1852A>T (p.Asn618Tyr) c.1951A>T (p.Asn651Tyr) n.2373A>T c.1840A>T (p.Asn614Tyr) n.2353A>T n.2179A>T c.1642A>T (p.Asn548Tyr) c.1858A>T (p.Asn620Tyr) c.1876A>T (p.Asn626Tyr) | dbSNP |
17 | g.42322447T>C | CA399582356 | STAT3 | c.1936A>G (p.Asn646Asp) c.*328A>G (n.*328A>G) c.1909A>G (p.Asn637Asp) n.1389A>G c.*324A>G (n.*324A>G) c.2032A>G (p.Asn678Asp) n.2136A>G c.1915A>G (p.Asn639Asp) c.1852A>G (p.Asn618Asp) c.1951A>G (p.Asn651Asp) n.2373A>G c.1840A>G (p.Asn614Asp) n.2353A>G n.2179A>G c.1642A>G (p.Asn548Asp) c.1858A>G (p.Asn620Asp) c.1876A>G (p.Asn626Asp) | |
17 | g.42322447T>G | CA399582359 | STAT3 | c.1936A>C (p.Asn646His) c.*328A>C (n.*328A>C) c.1909A>C (p.Asn637His) n.1389A>C c.*324A>C (n.*324A>C) c.2032A>C (p.Asn678His) n.2136A>C c.1915A>C (p.Asn639His) c.1852A>C (p.Asn618His) c.1951A>C (p.Asn651His) n.2373A>C c.1840A>C (p.Asn614His) n.2353A>C n.2179A>C c.1642A>C (p.Asn548His) c.1858A>C (p.Asn620His) c.1876A>C (p.Asn626His) | dbSNP |
17 | g.42322448C>A | CA500061100 | STAT3 | c.1935G>T (p.Leu645=) c.*327G>T (n.*327G>T) c.1908G>T (p.Leu636=) n.1388G>T c.*323G>T (n.*323G>T) c.2031G>T (p.Leu677=) n.2135G>T c.1914G>T (p.Leu638=) c.1851G>T (p.Leu617=) c.1950G>T (p.Leu650=) n.2372G>T c.1839G>T (p.Leu613=) n.2352G>T n.2178G>T c.1641G>T (p.Leu547=) c.1857G>T (p.Leu619=) c.1875G>T (p.Leu625=) | |
17 | g.42322448C>G | CA500061101 | STAT3 | c.1935G>C (p.Leu645=) c.*327G>C (n.*327G>C) c.1908G>C (p.Leu636=) n.1388G>C c.*323G>C (n.*323G>C) c.2031G>C (p.Leu677=) n.2135G>C c.1914G>C (p.Leu638=) c.1851G>C (p.Leu617=) c.1950G>C (p.Leu650=) n.2372G>C c.1839G>C (p.Leu613=) n.2352G>C n.2178G>C c.1641G>C (p.Leu547=) c.1857G>C (p.Leu619=) c.1875G>C (p.Leu625=) | dbSNP |
17 | g.42322448C>T | CA500061099 | STAT3 | c.1935G>A (p.Leu645=) c.*327G>A (n.*327G>A) c.1908G>A (p.Leu636=) n.1388G>A c.*323G>A (n.*323G>A) c.2031G>A (p.Leu677=) n.2135G>A c.1914G>A (p.Leu638=) c.1851G>A (p.Leu617=) c.1950G>A (p.Leu650=) n.2372G>A c.1839G>A (p.Leu613=) n.2352G>A n.2178G>A c.1641G>A (p.Leu547=) c.1857G>A (p.Leu619=) c.1875G>A (p.Leu625=) | dbSNP |
17 | g.42322449A>C | CA399582362 | STAT3 | c.1934T>G (p.Leu645Arg) c.*326T>G (n.*326T>G) c.1907T>G (p.Leu636Arg) n.1387T>G c.*322T>G (n.*322T>G) c.2030T>G (p.Leu677Arg) n.2134T>G c.1913T>G (p.Leu638Arg) c.1850T>G (p.Leu617Arg) c.1949T>G (p.Leu650Arg) n.2371T>G c.1838T>G (p.Leu613Arg) n.2351T>G n.2177T>G c.1640T>G (p.Leu547Arg) c.1856T>G (p.Leu619Arg) c.1874T>G (p.Leu625Arg) | |
17 | g.42322449A>G | CA399582364 | STAT3 | c.1934T>C (p.Leu645Pro) c.*326T>C (n.*326T>C) c.1907T>C (p.Leu636Pro) n.1387T>C c.*322T>C (n.*322T>C) c.2030T>C (p.Leu677Pro) n.2134T>C c.1913T>C (p.Leu638Pro) c.1850T>C (p.Leu617Pro) c.1949T>C (p.Leu650Pro) n.2371T>C c.1838T>C (p.Leu613Pro) n.2351T>C n.2177T>C c.1640T>C (p.Leu547Pro) c.1856T>C (p.Leu619Pro) c.1874T>C (p.Leu625Pro) | |
17 | g.42322449A>T | CA399582367 | STAT3 | c.1934T>A (p.Leu645Gln) c.*326T>A (n.*326T>A) c.1907T>A (p.Leu636Gln) n.1387T>A c.*322T>A (n.*322T>A) c.2030T>A (p.Leu677Gln) n.2134T>A c.1913T>A (p.Leu638Gln) c.1850T>A (p.Leu617Gln) c.1949T>A (p.Leu650Gln) n.2371T>A c.1838T>A (p.Leu613Gln) n.2351T>A n.2177T>A c.1640T>A (p.Leu547Gln) c.1856T>A (p.Leu619Gln) c.1874T>A (p.Leu625Gln) | ClinVar dbSNP |
17 | g.42322449_42322452delinsAGCT | CA2260430746 | STAT3 | c.1931_1934delinsAGCT (p.Gln644=) c.*323_*326delinsAGCT (n.*323_*326delinsAGCT) c.1904_1907delinsAGCT (p.Gln635=) n.1384_1387delinsAGCT c.*319_*322delinsAGCT (n.*319_*322delinsAGCT) c.2027_2030delinsAGCT (p.Gln676=) n.2131_2134delinsAGCT c.1910_1913delinsAGCT (p.Gln637=) c.1847_1850delinsAGCT (p.Gln616=) c.1946_1949delinsAGCT (p.Gln649=) n.2368_2371delinsAGCT c.1835_1838delinsAGCT (p.Gln612=) n.2348_2351delinsAGCT n.2174_2177delinsAGCT c.1637_1640delinsAGCT (p.Gln546=) c.1853_1856delinsAGCT (p.Gln618=) c.1871_1874delinsAGCT (p.Gln624=) | |
17 | g.42322450G>A | CA500061102 | STAT3 | c.1933C>T (p.Leu645=) c.*325C>T (n.*325C>T) c.1906C>T (p.Leu636=) n.1386C>T c.*321C>T (n.*321C>T) c.2029C>T (p.Leu677=) n.2133C>T c.1912C>T (p.Leu638=) c.1849C>T (p.Leu617=) c.1948C>T (p.Leu650=) n.2370C>T c.1837C>T (p.Leu613=) n.2350C>T n.2176C>T c.1639C>T (p.Leu547=) c.1855C>T (p.Leu619=) c.1873C>T (p.Leu625=) | dbSNP |
17 | g.42322450G>C | CA399582368 | STAT3 | c.1933C>G (p.Leu645Val) c.*325C>G (n.*325C>G) c.1906C>G (p.Leu636Val) n.1386C>G c.*321C>G (n.*321C>G) c.2029C>G (p.Leu677Val) n.2133C>G c.1912C>G (p.Leu638Val) c.1849C>G (p.Leu617Val) c.1948C>G (p.Leu650Val) n.2370C>G c.1837C>G (p.Leu613Val) n.2350C>G n.2176C>G c.1639C>G (p.Leu547Val) c.1855C>G (p.Leu619Val) c.1873C>G (p.Leu625Val) | dbSNP |
17 | g.42322450G>T | CA399582371 | STAT3 | c.1933C>A (p.Leu645Met) c.*325C>A (n.*325C>A) c.1906C>A (p.Leu636Met) n.1386C>A c.*321C>A (n.*321C>A) c.2029C>A (p.Leu677Met) n.2133C>A c.1912C>A (p.Leu638Met) c.1849C>A (p.Leu617Met) c.1948C>A (p.Leu650Met) n.2370C>A c.1837C>A (p.Leu613Met) n.2350C>A n.2176C>A c.1639C>A (p.Leu547Met) c.1855C>A (p.Leu619Met) c.1873C>A (p.Leu625Met) | dbSNP |
17 | g.42322456_42322458del | CA2260430747 | STAT3 | c.1931_1933del (p.Gln644del) c.*323_*325del (n.*323_*325del) c.1904_1906del (p.Gln635del) n.1384_1386del c.*319_*321del (n.*319_*321del) c.2027_2029del (p.Gln676del) n.2131_2133del c.1910_1912del (p.Gln637del) c.1847_1849del (p.Gln616del) c.1946_1948del (p.Gln649del) n.2368_2370del c.1835_1837del (p.Gln612del) n.2348_2350del n.2174_2176del c.1637_1639del (p.Gln546del) c.1853_1855del (p.Gln618del) c.1871_1873del (p.Gln624del) | ClinVar dbSNP |
17 | g.42322451C>A | CA399582374 | STAT3 | c.1932G>T (p.Gln644His) c.*324G>T (n.*324G>T) c.1905G>T (p.Gln635His) n.1385G>T c.*320G>T (n.*320G>T) c.2028G>T (p.Gln676His) n.2132G>T c.1911G>T (p.Gln637His) c.1848G>T (p.Gln616His) c.1947G>T (p.Gln649His) n.2369G>T c.1836G>T (p.Gln612His) n.2349G>T n.2175G>T c.1638G>T (p.Gln546His) c.1854G>T (p.Gln618His) c.1872G>T (p.Gln624His) | dbSNP |
17 | g.42322451C>G | CA399582375 | STAT3 | c.1932G>C (p.Gln644His) c.*324G>C (n.*324G>C) c.1905G>C (p.Gln635His) n.1385G>C c.*320G>C (n.*320G>C) c.2028G>C (p.Gln676His) n.2132G>C c.1911G>C (p.Gln637His) c.1848G>C (p.Gln616His) c.1947G>C (p.Gln649His) n.2369G>C c.1836G>C (p.Gln612His) n.2349G>C n.2175G>C c.1638G>C (p.Gln546His) c.1854G>C (p.Gln618His) c.1872G>C (p.Gln624His) | dbSNP |
17 | g.42322451C>T | CA500061103 | STAT3 | c.1932G>A (p.Gln644=) c.*324G>A (n.*324G>A) c.1905G>A (p.Gln635=) n.1385G>A c.*320G>A (n.*320G>A) c.2028G>A (p.Gln676=) n.2132G>A c.1911G>A (p.Gln637=) c.1848G>A (p.Gln616=) c.1947G>A (p.Gln649=) n.2369G>A c.1836G>A (p.Gln612=) n.2349G>A n.2175G>A c.1638G>A (p.Gln546=) c.1854G>A (p.Gln618=) c.1872G>A (p.Gln624=) | dbSNP |
17 | g.42322452T>A | CA399582384 | STAT3 | c.1931A>T (p.Gln644Leu) c.*323A>T (n.*323A>T) c.1904A>T (p.Gln635Leu) n.1384A>T c.*319A>T (n.*319A>T) c.2027A>T (p.Gln676Leu) n.2131A>T c.1910A>T (p.Gln637Leu) c.1847A>T (p.Gln616Leu) c.1946A>T (p.Gln649Leu) n.2368A>T c.1835A>T (p.Gln612Leu) n.2348A>T n.2174A>T c.1637A>T (p.Gln546Leu) c.1853A>T (p.Gln618Leu) c.1871A>T (p.Gln624Leu) | dbSNP |
17 | g.42322452T>C | CA399582385 | STAT3 | c.1931A>G (p.Gln644Arg) c.*323A>G (n.*323A>G) c.1904A>G (p.Gln635Arg) n.1384A>G c.*319A>G (n.*319A>G) c.2027A>G (p.Gln676Arg) n.2131A>G c.1910A>G (p.Gln637Arg) c.1847A>G (p.Gln616Arg) c.1946A>G (p.Gln649Arg) n.2368A>G c.1835A>G (p.Gln612Arg) n.2348A>G n.2174A>G c.1637A>G (p.Gln546Arg) c.1853A>G (p.Gln618Arg) c.1871A>G (p.Gln624Arg) | |
17 | g.42322452T>G | CA399582388 | STAT3 | c.1931A>C (p.Gln644Pro) c.*323A>C (n.*323A>C) c.1904A>C (p.Gln635Pro) n.1384A>C c.*319A>C (n.*319A>C) c.2027A>C (p.Gln676Pro) n.2131A>C c.1910A>C (p.Gln637Pro) c.1847A>C (p.Gln616Pro) c.1946A>C (p.Gln649Pro) n.2368A>C c.1835A>C (p.Gln612Pro) n.2348A>C n.2174A>C c.1637A>C (p.Gln546Pro) c.1853A>C (p.Gln618Pro) c.1871A>C (p.Gln624Pro) | |
17 | g.42322453G>A | CA399582392 | STAT3 | c.1930C>T (p.Gln644Ter) c.*322C>T (n.*322C>T) c.1903C>T (p.Gln635Ter) n.1383C>T c.*318C>T (n.*318C>T) c.2026C>T (p.Gln676Ter) n.2130C>T c.1909C>T (p.Gln637Ter) c.1846C>T (p.Gln616Ter) c.1945C>T (p.Gln649Ter) n.2367C>T c.1834C>T (p.Gln612Ter) n.2347C>T n.2173C>T c.1636C>T (p.Gln546Ter) c.1852C>T (p.Gln618Ter) c.1870C>T (p.Gln624Ter) | dbSNP |
17 | g.42322453G>C | CA399582393 | STAT3 | c.1930C>G (p.Gln644Glu) c.*322C>G (n.*322C>G) c.1903C>G (p.Gln635Glu) n.1383C>G c.*318C>G (n.*318C>G) c.2026C>G (p.Gln676Glu) n.2130C>G c.1909C>G (p.Gln637Glu) c.1846C>G (p.Gln616Glu) c.1945C>G (p.Gln649Glu) n.2367C>G c.1834C>G (p.Gln612Glu) n.2347C>G n.2173C>G c.1636C>G (p.Gln546Glu) c.1852C>G (p.Gln618Glu) c.1870C>G (p.Gln624Glu) | dbSNP |
17 | g.42322453G>T | CA399582394 | STAT3 | c.1930C>A (p.Gln644Lys) c.*322C>A (n.*322C>A) c.1903C>A (p.Gln635Lys) n.1383C>A c.*318C>A (n.*318C>A) c.2026C>A (p.Gln676Lys) n.2130C>A c.1909C>A (p.Gln637Lys) c.1846C>A (p.Gln616Lys) c.1945C>A (p.Gln649Lys) n.2367C>A c.1834C>A (p.Gln612Lys) n.2347C>A n.2173C>A c.1636C>A (p.Gln546Lys) c.1852C>A (p.Gln618Lys) c.1870C>A (p.Gln624Lys) | dbSNP |
17 | g.42322454C>A | CA399582395 | STAT3 | c.1929G>T (p.Gln643His) c.*321G>T (n.*321G>T) c.1902G>T (p.Gln634His) n.1382G>T c.*317G>T (n.*317G>T) c.2025G>T (p.Gln675His) n.2129G>T c.1908G>T (p.Gln636His) c.1845G>T (p.Gln615His) c.1944G>T (p.Gln648His) n.2366G>T c.1833G>T (p.Gln611His) n.2346G>T n.2172G>T c.1635G>T (p.Gln545His) c.1851G>T (p.Gln617His) c.1869G>T (p.Gln623His) | dbSNP |
17 | g.42322454C>G | CA399582396 | STAT3 | c.1929G>C (p.Gln643His) c.*321G>C (n.*321G>C) c.1902G>C (p.Gln634His) n.1382G>C c.*317G>C (n.*317G>C) c.2025G>C (p.Gln675His) n.2129G>C c.1908G>C (p.Gln636His) c.1845G>C (p.Gln615His) c.1944G>C (p.Gln648His) n.2366G>C c.1833G>C (p.Gln611His) n.2346G>C n.2172G>C c.1635G>C (p.Gln545His) c.1851G>C (p.Gln617His) c.1869G>C (p.Gln623His) | dbSNP |
17 | g.42322454C>T | CA500061104 | STAT3 | c.1929G>A (p.Gln643=) c.*321G>A (n.*321G>A) c.1902G>A (p.Gln634=) n.1382G>A c.*317G>A (n.*317G>A) c.2025G>A (p.Gln675=) n.2129G>A c.1908G>A (p.Gln636=) c.1845G>A (p.Gln615=) c.1944G>A (p.Gln648=) n.2366G>A c.1833G>A (p.Gln611=) n.2346G>A n.2172G>A c.1635G>A (p.Gln545=) c.1851G>A (p.Gln617=) c.1869G>A (p.Gln623=) | dbSNP |
17 | g.42322455T>A | CA399582398 | STAT3 | c.1928A>T (p.Gln643Leu) c.*320A>T (n.*320A>T) c.1901A>T (p.Gln634Leu) n.1381A>T c.*316A>T (n.*316A>T) c.2024A>T (p.Gln675Leu) n.2128A>T c.1907A>T (p.Gln636Leu) c.1844A>T (p.Gln615Leu) c.1943A>T (p.Gln648Leu) n.2365A>T c.1832A>T (p.Gln611Leu) n.2345A>T n.2171A>T c.1634A>T (p.Gln545Leu) c.1850A>T (p.Gln617Leu) c.1868A>T (p.Gln623Leu) | dbSNP |
17 | g.42322455T>C | CA399582399 | STAT3 | c.1928A>G (p.Gln643Arg) c.*320A>G (n.*320A>G) c.1901A>G (p.Gln634Arg) n.1381A>G c.*316A>G (n.*316A>G) c.2024A>G (p.Gln675Arg) n.2128A>G c.1907A>G (p.Gln636Arg) c.1844A>G (p.Gln615Arg) c.1943A>G (p.Gln648Arg) n.2365A>G c.1832A>G (p.Gln611Arg) n.2345A>G n.2171A>G c.1634A>G (p.Gln545Arg) c.1850A>G (p.Gln617Arg) c.1868A>G (p.Gln623Arg) | |
17 | g.42322455T>G | CA399582401 | STAT3 | c.1928A>C (p.Gln643Pro) c.*320A>C (n.*320A>C) c.1901A>C (p.Gln634Pro) n.1381A>C c.*316A>C (n.*316A>C) c.2024A>C (p.Gln675Pro) n.2128A>C c.1907A>C (p.Gln636Pro) c.1844A>C (p.Gln615Pro) c.1943A>C (p.Gln648Pro) n.2365A>C c.1832A>C (p.Gln611Pro) n.2345A>C n.2171A>C c.1634A>C (p.Gln545Pro) c.1850A>C (p.Gln617Pro) c.1868A>C (p.Gln623Pro) |