Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69236955A>C | CA373532740 | TJP2 | c.1998A>C (p.Glu666Asp) c.2010A>C (p.Glu670Asp) c.2091A>C (p.Glu697Asp) n.2077A>C c.2175A>C (p.Glu725Asp) c.2385A>C (p.Glu795Asp) c.*2186A>C (n.*2186A>C) c.*2305A>C (n.*2305A>C) c.1929A>C (p.Glu643Asp) c.707A>C n.2308A>C n.2022A>C c.2001A>C (p.Glu667Asp) c.1271A>C n.1521A>C c.1992A>C (p.Glu664Asp) c.1923A>C (p.Glu641Asp) | |
9 | g.69236955A>G | CA465252584 | TJP2 | c.1998A>G (p.Glu666=) c.2010A>G (p.Glu670=) c.2091A>G (p.Glu697=) n.2077A>G c.2175A>G (p.Glu725=) c.2385A>G (p.Glu795=) c.*2186A>G (n.*2186A>G) c.*2305A>G (n.*2305A>G) c.1929A>G (p.Glu643=) c.707A>G n.2308A>G n.2022A>G c.2001A>G (p.Glu667=) c.1271A>G n.1521A>G c.1992A>G (p.Glu664=) c.1923A>G (p.Glu641=) | |
9 | g.69236955A>T | CA373532741 | TJP2 | c.1998A>T (p.Glu666Asp) c.2010A>T (p.Glu670Asp) c.2091A>T (p.Glu697Asp) n.2077A>T c.2175A>T (p.Glu725Asp) c.2385A>T (p.Glu795Asp) c.*2186A>T (n.*2186A>T) c.*2305A>T (n.*2305A>T) c.1929A>T (p.Glu643Asp) c.707A>T n.2308A>T n.2022A>T c.2001A>T (p.Glu667Asp) c.1271A>T n.1521A>T c.1992A>T (p.Glu664Asp) c.1923A>T (p.Glu641Asp) | |
9 | g.69236956C>A | CA373532742 | TJP2 | c.1999C>A (p.Gln667Lys) c.2011C>A (p.Gln671Lys) c.2092C>A (p.Gln698Lys) n.2078C>A c.2176C>A (p.Gln726Lys) c.2386C>A (p.Gln796Lys) c.*2187C>A (n.*2187C>A) c.*2306C>A (n.*2306C>A) c.1930C>A (p.Gln644Lys) c.708C>A n.2309C>A n.2023C>A c.2002C>A (p.Gln668Lys) c.1272C>A n.1522C>A c.1993C>A (p.Gln665Lys) c.1924C>A (p.Gln642Lys) | gnomAD v4 |
9 | g.69236956C>G | CA373532743 | TJP2 | c.1999C>G (p.Gln667Glu) c.2011C>G (p.Gln671Glu) c.2092C>G (p.Gln698Glu) n.2078C>G c.2176C>G (p.Gln726Glu) c.2386C>G (p.Gln796Glu) c.*2187C>G (n.*2187C>G) c.*2306C>G (n.*2306C>G) c.1930C>G (p.Gln644Glu) c.708C>G n.2309C>G n.2023C>G c.2002C>G (p.Gln668Glu) c.1272C>G n.1522C>G c.1993C>G (p.Gln665Glu) c.1924C>G (p.Gln642Glu) | gnomAD v4 |
9 | g.69236956C>T | CA373532744 | TJP2 | c.1999C>T (p.Gln667Ter) c.2011C>T (p.Gln671Ter) c.2092C>T (p.Gln698Ter) n.2078C>T c.2176C>T (p.Gln726Ter) c.2386C>T (p.Gln796Ter) c.*2187C>T (n.*2187C>T) c.*2306C>T (n.*2306C>T) c.1930C>T (p.Gln644Ter) c.708C>T n.2309C>T n.2023C>T c.2002C>T (p.Gln668Ter) c.1272C>T n.1522C>T c.1993C>T (p.Gln665Ter) c.1924C>T (p.Gln642Ter) | gnomAD v4 |
9 | g.69236957A>C | CA373532747 | TJP2 | c.2000A>C (p.Gln667Pro) c.2012A>C (p.Gln671Pro) c.2093A>C (p.Gln698Pro) n.2079A>C c.2177A>C (p.Gln726Pro) c.2387A>C (p.Gln796Pro) c.*2188A>C (n.*2188A>C) c.*2307A>C (n.*2307A>C) c.1931A>C (p.Gln644Pro) c.709A>C n.2310A>C n.2024A>C c.2003A>C (p.Gln668Pro) c.1273A>C n.1523A>C c.1994A>C (p.Gln665Pro) c.1925A>C (p.Gln642Pro) | |
9 | g.69236957A>G | CA373532745 | TJP2 | c.2000A>G (p.Gln667Arg) c.2012A>G (p.Gln671Arg) c.2093A>G (p.Gln698Arg) n.2079A>G c.2177A>G (p.Gln726Arg) c.2387A>G (p.Gln796Arg) c.*2188A>G (n.*2188A>G) c.*2307A>G (n.*2307A>G) c.1931A>G (p.Gln644Arg) c.709A>G n.2310A>G n.2024A>G c.2003A>G (p.Gln668Arg) c.1273A>G n.1523A>G c.1994A>G (p.Gln665Arg) c.1925A>G (p.Gln642Arg) | |
9 | g.69236957A>T | CA373532746 | TJP2 | c.2000A>T (p.Gln667Leu) c.2012A>T (p.Gln671Leu) c.2093A>T (p.Gln698Leu) n.2079A>T c.2177A>T (p.Gln726Leu) c.2387A>T (p.Gln796Leu) c.*2188A>T (n.*2188A>T) c.*2307A>T (n.*2307A>T) c.1931A>T (p.Gln644Leu) c.709A>T n.2310A>T n.2024A>T c.2003A>T (p.Gln668Leu) c.1273A>T n.1523A>T c.1994A>T (p.Gln665Leu) c.1925A>T (p.Gln642Leu) | |
9 | g.69236958A>C | CA373532748 | TJP2 | c.2001A>C (p.Gln667His) c.2013A>C (p.Gln671His) c.2094A>C (p.Gln698His) n.2080A>C c.2178A>C (p.Gln726His) c.2388A>C (p.Gln796His) c.*2189A>C (n.*2189A>C) c.*2308A>C (n.*2308A>C) c.1932A>C (p.Gln644His) c.710A>C n.2311A>C n.2025A>C c.2004A>C (p.Gln668His) c.1274A>C n.1524A>C c.1995A>C (p.Gln665His) c.1926A>C (p.Gln642His) | |
9 | g.69236958A>G | CA465252586 | TJP2 | c.2001A>G (p.Gln667=) c.2013A>G (p.Gln671=) c.2094A>G (p.Gln698=) n.2080A>G c.2178A>G (p.Gln726=) c.2388A>G (p.Gln796=) c.*2189A>G (n.*2189A>G) c.*2308A>G (n.*2308A>G) c.1932A>G (p.Gln644=) c.710A>G n.2311A>G n.2025A>G c.2004A>G (p.Gln668=) c.1274A>G n.1524A>G c.1995A>G (p.Gln665=) c.1926A>G (p.Gln642=) | |
9 | g.69236958A>T | CA373532749 | TJP2 | c.2001A>T (p.Gln667His) c.2013A>T (p.Gln671His) c.2094A>T (p.Gln698His) n.2080A>T c.2178A>T (p.Gln726His) c.2388A>T (p.Gln796His) c.*2189A>T (n.*2189A>T) c.*2308A>T (n.*2308A>T) c.1932A>T (p.Gln644His) c.710A>T n.2311A>T n.2025A>T c.2004A>T (p.Gln668His) c.1274A>T n.1524A>T c.1995A>T (p.Gln665His) c.1926A>T (p.Gln642His) | |
9 | g.69236959A>C | CA373532750 | TJP2 | c.2002A>C (p.Met668Leu) c.2014A>C (p.Met672Leu) c.2095A>C (p.Met699Leu) n.2081A>C c.2179A>C (p.Met727Leu) c.2389A>C (p.Met797Leu) c.*2190A>C (n.*2190A>C) c.*2309A>C (n.*2309A>C) c.1933A>C (p.Met645Leu) c.711A>C n.2312A>C n.2026A>C c.2005A>C (p.Met669Leu) c.1275A>C n.1525A>C c.1996A>C (p.Met666Leu) c.1927A>C (p.Met643Leu) | |
9 | g.69236959A>G | CA373532751 | TJP2 | c.2002A>G (p.Met668Val) c.2014A>G (p.Met672Val) c.2095A>G (p.Met699Val) n.2081A>G c.2179A>G (p.Met727Val) c.2389A>G (p.Met797Val) c.*2190A>G (n.*2190A>G) c.*2309A>G (n.*2309A>G) c.1933A>G (p.Met645Val) c.711A>G n.2312A>G n.2026A>G c.2005A>G (p.Met669Val) c.1275A>G n.1525A>G c.1996A>G (p.Met666Val) c.1927A>G (p.Met643Val) | gnomAD v4 |
9 | g.69236959A>T | CA373532752 | TJP2 | c.2002A>T (p.Met668Leu) c.2014A>T (p.Met672Leu) c.2095A>T (p.Met699Leu) n.2081A>T c.2179A>T (p.Met727Leu) c.2389A>T (p.Met797Leu) c.*2190A>T (n.*2190A>T) c.*2309A>T (n.*2309A>T) c.1933A>T (p.Met645Leu) c.711A>T n.2312A>T n.2026A>T c.2005A>T (p.Met669Leu) c.1275A>T n.1525A>T c.1996A>T (p.Met666Leu) c.1927A>T (p.Met643Leu) | |
9 | g.69236960T>A | CA373532755 | TJP2 | c.2003T>A (p.Met668Lys) c.2015T>A (p.Met672Lys) c.2096T>A (p.Met699Lys) n.2082T>A c.2180T>A (p.Met727Lys) c.2390T>A (p.Met797Lys) c.*2191T>A (n.*2191T>A) c.*2310T>A (n.*2310T>A) c.1934T>A (p.Met645Lys) c.712T>A n.2313T>A n.2027T>A c.2006T>A (p.Met669Lys) c.1276T>A n.1526T>A c.1997T>A (p.Met666Lys) c.1928T>A (p.Met643Lys) | |
9 | g.69236960T>C | CA373532754 | TJP2 | c.2003T>C (p.Met668Thr) c.2015T>C (p.Met672Thr) c.2096T>C (p.Met699Thr) n.2082T>C c.2180T>C (p.Met727Thr) c.2390T>C (p.Met797Thr) c.*2191T>C (n.*2191T>C) c.*2310T>C (n.*2310T>C) c.1934T>C (p.Met645Thr) c.712T>C n.2313T>C n.2027T>C c.2006T>C (p.Met669Thr) c.1276T>C n.1526T>C c.1997T>C (p.Met666Thr) c.1928T>C (p.Met643Thr) | |
9 | g.69236960T>G | CA373532753 | TJP2 | c.2003T>G (p.Met668Arg) c.2015T>G (p.Met672Arg) c.2096T>G (p.Met699Arg) n.2082T>G c.2180T>G (p.Met727Arg) c.2390T>G (p.Met797Arg) c.*2191T>G (n.*2191T>G) c.*2310T>G (n.*2310T>G) c.1934T>G (p.Met645Arg) c.712T>G n.2313T>G n.2027T>G c.2006T>G (p.Met669Arg) c.1276T>G n.1526T>G c.1997T>G (p.Met666Arg) c.1928T>G (p.Met643Arg) | |
9 | g.69236961G>A | CA133552 | TJP2 | c.2004G>A (p.Met668Ile) c.2016G>A (p.Met672Ile) c.2097G>A (p.Met699Ile) n.2083G>A c.2181G>A (p.Met727Ile) c.2391G>A (p.Met797Ile) c.*2192G>A (n.*2192G>A) c.*2311G>A (n.*2311G>A) c.1935G>A (p.Met645Ile) c.713G>A n.2314G>A n.2028G>A c.2007G>A (p.Met669Ile) c.1277G>A n.1527G>A c.1998G>A (p.Met666Ile) c.1929G>A (p.Met643Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.69236961G>C | CA5073557 | TJP2 | c.2004G>C (p.Met668Ile) c.2016G>C (p.Met672Ile) c.2097G>C (p.Met699Ile) n.2083G>C c.2181G>C (p.Met727Ile) c.2391G>C (p.Met797Ile) c.*2192G>C (n.*2192G>C) c.*2311G>C (n.*2311G>C) c.1935G>C (p.Met645Ile) c.713G>C n.2314G>C n.2028G>C c.2007G>C (p.Met669Ile) c.1277G>C n.1527G>C c.1998G>C (p.Met666Ile) c.1929G>C (p.Met643Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.69236961G= | CA1854127102 | TJP2 | c.2004G= (p.Met668=) c.2016G= (p.Met672=) c.2097G= (p.Met699=) n.2083G= c.2181G= (p.Met727=) c.2391G= (p.Met797=) c.*2192G= (n.*2192G=) c.*2311G= (n.*2311G=) c.1935G= (p.Met645=) c.713G= n.2314G= n.2028G= c.2007G= (p.Met669=) c.1277G= n.1527G= c.1998G= (p.Met666=) c.1929G= (p.Met643=) | |
9 | g.69236961G>T | CA373532756 | TJP2 | c.2004G>T (p.Met668Ile) c.2016G>T (p.Met672Ile) c.2097G>T (p.Met699Ile) n.2083G>T c.2181G>T (p.Met727Ile) c.2391G>T (p.Met797Ile) c.*2192G>T (n.*2192G>T) c.*2311G>T (n.*2311G>T) c.1935G>T (p.Met645Ile) c.713G>T n.2314G>T n.2028G>T c.2007G>T (p.Met669Ile) c.1277G>T n.1527G>T c.1998G>T (p.Met666Ile) c.1929G>T (p.Met643Ile) | |
9 | g.69236962G>A | CA373532757 | TJP2 | c.2005G>A (p.Ala669Thr) c.2017G>A (p.Ala673Thr) c.2098G>A (p.Ala700Thr) n.2084G>A c.2182G>A (p.Ala728Thr) c.2392G>A (p.Ala798Thr) c.*2193G>A (n.*2193G>A) c.*2312G>A (n.*2312G>A) c.1936G>A (p.Ala646Thr) c.714G>A n.2315G>A n.2029G>A c.2008G>A (p.Ala670Thr) c.1278G>A n.1528G>A c.1999G>A (p.Ala667Thr) c.1930G>A (p.Ala644Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69236962G>C | CA373532758 | TJP2 | c.2005G>C (p.Ala669Pro) c.2017G>C (p.Ala673Pro) c.2098G>C (p.Ala700Pro) n.2084G>C c.2182G>C (p.Ala728Pro) c.2392G>C (p.Ala798Pro) c.*2193G>C (n.*2193G>C) c.*2312G>C (n.*2312G>C) c.1936G>C (p.Ala646Pro) c.714G>C n.2315G>C n.2029G>C c.2008G>C (p.Ala670Pro) c.1278G>C n.1528G>C c.1999G>C (p.Ala667Pro) c.1930G>C (p.Ala644Pro) | |
9 | g.69236962G= | CA1854127103 | TJP2 | c.2005G= (p.Ala669=) c.2017G= (p.Ala673=) c.2098G= (p.Ala700=) n.2084G= c.2182G= (p.Ala728=) c.2392G= (p.Ala798=) c.*2193G= (n.*2193G=) c.*2312G= (n.*2312G=) c.1936G= (p.Ala646=) c.714G= n.2315G= n.2029G= c.2008G= (p.Ala670=) c.1278G= n.1528G= c.1999G= (p.Ala667=) c.1930G= (p.Ala644=) | |
9 | g.69236962G>T | CA373532759 | TJP2 | c.2005G>T (p.Ala669Ser) c.2017G>T (p.Ala673Ser) c.2098G>T (p.Ala700Ser) n.2084G>T c.2182G>T (p.Ala728Ser) c.2392G>T (p.Ala798Ser) c.*2193G>T (n.*2193G>T) c.*2312G>T (n.*2312G>T) c.1936G>T (p.Ala646Ser) c.714G>T n.2315G>T n.2029G>T c.2008G>T (p.Ala670Ser) c.1278G>T n.1528G>T c.1999G>T (p.Ala667Ser) c.1930G>T (p.Ala644Ser) | dbSNP gnomAD v4 |
9 | g.69236963C>A | CA373532760 | TJP2 | c.2006C>A (p.Ala669Asp) c.2018C>A (p.Ala673Asp) c.2099C>A (p.Ala700Asp) n.2085C>A c.2183C>A (p.Ala728Asp) c.2393C>A (p.Ala798Asp) c.*2194C>A (n.*2194C>A) c.*2313C>A (n.*2313C>A) c.1937C>A (p.Ala646Asp) c.715C>A n.2316C>A n.2030C>A c.2009C>A (p.Ala670Asp) c.1279C>A n.1529C>A c.2000C>A (p.Ala667Asp) c.1931C>A (p.Ala644Asp) | |
9 | g.69236963C>G | CA373532761 | TJP2 | c.2006C>G (p.Ala669Gly) c.2018C>G (p.Ala673Gly) c.2099C>G (p.Ala700Gly) n.2085C>G c.2183C>G (p.Ala728Gly) c.2393C>G (p.Ala798Gly) c.*2194C>G (n.*2194C>G) c.*2313C>G (n.*2313C>G) c.1937C>G (p.Ala646Gly) c.715C>G n.2316C>G n.2030C>G c.2009C>G (p.Ala670Gly) c.1279C>G n.1529C>G c.2000C>G (p.Ala667Gly) c.1931C>G (p.Ala644Gly) | |
9 | g.69236963C>T | CA373532762 | TJP2 | c.2006C>T (p.Ala669Val) c.2018C>T (p.Ala673Val) c.2099C>T (p.Ala700Val) n.2085C>T c.2183C>T (p.Ala728Val) c.2393C>T (p.Ala798Val) c.*2194C>T (n.*2194C>T) c.*2313C>T (n.*2313C>T) c.1937C>T (p.Ala646Val) c.715C>T n.2316C>T n.2030C>T c.2009C>T (p.Ala670Val) c.1279C>T n.1529C>T c.2000C>T (p.Ala667Val) c.1931C>T (p.Ala644Val) | |
9 | g.69236964C>A | CA465252595 | TJP2 | c.2007C>A (p.Ala669=) c.2019C>A (p.Ala673=) c.2100C>A (p.Ala700=) n.2086C>A c.2184C>A (p.Ala728=) c.2394C>A (p.Ala798=) c.*2195C>A (n.*2195C>A) c.*2314C>A (n.*2314C>A) c.1938C>A (p.Ala646=) c.716C>A n.2317C>A n.2031C>A c.2010C>A (p.Ala670=) c.1280C>A n.1530C>A c.2001C>A (p.Ala667=) c.1932C>A (p.Ala644=) | |
9 | g.69236964C>G | CA465252596 | TJP2 | c.2007C>G (p.Ala669=) c.2019C>G (p.Ala673=) c.2100C>G (p.Ala700=) n.2086C>G c.2184C>G (p.Ala728=) c.2394C>G (p.Ala798=) c.*2195C>G (n.*2195C>G) c.*2314C>G (n.*2314C>G) c.1938C>G (p.Ala646=) c.716C>G n.2317C>G n.2031C>G c.2010C>G (p.Ala670=) c.1280C>G n.1530C>G c.2001C>G (p.Ala667=) c.1932C>G (p.Ala644=) | |
9 | g.69236964C>T | CA465252597 | TJP2 | c.2007C>T (p.Ala669=) c.2019C>T (p.Ala673=) c.2100C>T (p.Ala700=) n.2086C>T c.2184C>T (p.Ala728=) c.2394C>T (p.Ala798=) c.*2195C>T (n.*2195C>T) c.*2314C>T (n.*2314C>T) c.1938C>T (p.Ala646=) c.716C>T n.2317C>T n.2031C>T c.2010C>T (p.Ala670=) c.1280C>T n.1530C>T c.2001C>T (p.Ala667=) c.1932C>T (p.Ala644=) | gnomAD v4 |
9 | g.69236965A= | CA1854127104 | TJP2 | c.2008A= (p.Ser670=) c.2020A= (p.Ser674=) c.2101A= (p.Ser701=) n.2087A= c.2185A= (p.Ser729=) c.2395A= (p.Ser799=) c.*2196A= (n.*2196A=) c.*2315A= (n.*2315A=) c.1939A= (p.Ser647=) c.717A= n.2318A= n.2032A= c.2011A= (p.Ser671=) c.1281A= n.1531A= c.2002A= (p.Ser668=) c.1933A= (p.Ser645=) | |
9 | g.69236965A>C | CA373532763 | TJP2 | c.2008A>C (p.Ser670Arg) c.2020A>C (p.Ser674Arg) c.2101A>C (p.Ser701Arg) n.2087A>C c.2185A>C (p.Ser729Arg) c.2395A>C (p.Ser799Arg) c.*2196A>C (n.*2196A>C) c.*2315A>C (n.*2315A>C) c.1939A>C (p.Ser647Arg) c.717A>C n.2318A>C n.2032A>C c.2011A>C (p.Ser671Arg) c.1281A>C n.1531A>C c.2002A>C (p.Ser668Arg) c.1933A>C (p.Ser645Arg) | gnomAD v4 |
9 | g.69236965A>G | CA373532764 | TJP2 | c.2008A>G (p.Ser670Gly) c.2020A>G (p.Ser674Gly) c.2101A>G (p.Ser701Gly) n.2087A>G c.2185A>G (p.Ser729Gly) c.2395A>G (p.Ser799Gly) c.*2196A>G (n.*2196A>G) c.*2315A>G (n.*2315A>G) c.1939A>G (p.Ser647Gly) c.717A>G n.2318A>G n.2032A>G c.2011A>G (p.Ser671Gly) c.1281A>G n.1531A>G c.2002A>G (p.Ser668Gly) c.1933A>G (p.Ser645Gly) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69236965A>T | CA373532765 | TJP2 | c.2008A>T (p.Ser670Cys) c.2020A>T (p.Ser674Cys) c.2101A>T (p.Ser701Cys) n.2087A>T c.2185A>T (p.Ser729Cys) c.2395A>T (p.Ser799Cys) c.*2196A>T (n.*2196A>T) c.*2315A>T (n.*2315A>T) c.1939A>T (p.Ser647Cys) c.717A>T n.2318A>T n.2032A>T c.2011A>T (p.Ser671Cys) c.1281A>T n.1531A>T c.2002A>T (p.Ser668Cys) c.1933A>T (p.Ser645Cys) | |
9 | g.69236966G>A | CA373532767 | TJP2 | c.2009G>A (p.Ser670Asn) c.2021G>A (p.Ser674Asn) c.2102G>A (p.Ser701Asn) n.2088G>A c.2186G>A (p.Ser729Asn) c.2396G>A (p.Ser799Asn) c.*2197G>A (n.*2197G>A) c.*2316G>A (n.*2316G>A) c.1940G>A (p.Ser647Asn) c.718G>A n.2319G>A n.2033G>A c.2012G>A (p.Ser671Asn) c.1282G>A n.1532G>A c.2003G>A (p.Ser668Asn) c.1934G>A (p.Ser645Asn) | |
9 | g.69236966G>C | CA373532768 | TJP2 | c.2009G>C (p.Ser670Thr) c.2021G>C (p.Ser674Thr) c.2102G>C (p.Ser701Thr) n.2088G>C c.2186G>C (p.Ser729Thr) c.2396G>C (p.Ser799Thr) c.*2197G>C (n.*2197G>C) c.*2316G>C (n.*2316G>C) c.1940G>C (p.Ser647Thr) c.718G>C n.2319G>C n.2033G>C c.2012G>C (p.Ser671Thr) c.1282G>C n.1532G>C c.2003G>C (p.Ser668Thr) c.1934G>C (p.Ser645Thr) | |
9 | g.69236966G>T | CA373532766 | TJP2 | c.2009G>T (p.Ser670Ile) c.2021G>T (p.Ser674Ile) c.2102G>T (p.Ser701Ile) n.2088G>T c.2186G>T (p.Ser729Ile) c.2396G>T (p.Ser799Ile) c.*2197G>T (n.*2197G>T) c.*2316G>T (n.*2316G>T) c.1940G>T (p.Ser647Ile) c.718G>T n.2319G>T n.2033G>T c.2012G>T (p.Ser671Ile) c.1282G>T n.1532G>T c.2003G>T (p.Ser668Ile) c.1934G>T (p.Ser645Ile) | |
9 | g.69236967T>A | CA373532769 | TJP2 | c.2010T>A (p.Ser670Arg) c.2022T>A (p.Ser674Arg) c.2103T>A (p.Ser701Arg) n.2089T>A c.2187T>A (p.Ser729Arg) c.2397T>A (p.Ser799Arg) c.*2198T>A (n.*2198T>A) c.*2317T>A (n.*2317T>A) c.1941T>A (p.Ser647Arg) c.719T>A n.2320T>A n.2034T>A c.2013T>A (p.Ser671Arg) c.1283T>A n.1533T>A c.2004T>A (p.Ser668Arg) c.1935T>A (p.Ser645Arg) | |
9 | g.69236967T>C | CA465252603 | TJP2 | c.2010T>C (p.Ser670=) c.2022T>C (p.Ser674=) c.2103T>C (p.Ser701=) n.2089T>C c.2187T>C (p.Ser729=) c.2397T>C (p.Ser799=) c.*2198T>C (n.*2198T>C) c.*2317T>C (n.*2317T>C) c.1941T>C (p.Ser647=) c.719T>C n.2320T>C n.2034T>C c.2013T>C (p.Ser671=) c.1283T>C n.1533T>C c.2004T>C (p.Ser668=) c.1935T>C (p.Ser645=) | dbSNP gnomAD v4 |
9 | g.69236967T>G | CA373532770 | TJP2 | c.2010T>G (p.Ser670Arg) c.2022T>G (p.Ser674Arg) c.2103T>G (p.Ser701Arg) n.2089T>G c.2187T>G (p.Ser729Arg) c.2397T>G (p.Ser799Arg) c.*2198T>G (n.*2198T>G) c.*2317T>G (n.*2317T>G) c.1941T>G (p.Ser647Arg) c.719T>G n.2320T>G n.2034T>G c.2013T>G (p.Ser671Arg) c.1283T>G n.1533T>G c.2004T>G (p.Ser668Arg) c.1935T>G (p.Ser645Arg) | |
9 | g.69236967T= | CA1854127105 | TJP2 | c.2010T= (p.Ser670=) c.2022T= (p.Ser674=) c.2103T= (p.Ser701=) n.2089T= c.2187T= (p.Ser729=) c.2397T= (p.Ser799=) c.*2198T= (n.*2198T=) c.*2317T= (n.*2317T=) c.1941T= (p.Ser647=) c.719T= n.2320T= n.2034T= c.2013T= (p.Ser671=) c.1283T= n.1533T= c.2004T= (p.Ser668=) c.1935T= (p.Ser645=) | |
9 | g.69236968G>A | CA373532771 | TJP2 | c.2011G>A (p.Val671Ile) c.2023G>A (p.Val675Ile) c.2104G>A (p.Val702Ile) n.2090G>A c.2188G>A (p.Val730Ile) c.2398G>A (p.Val800Ile) c.*2199G>A (n.*2199G>A) c.*2318G>A (n.*2318G>A) c.1942G>A (p.Val648Ile) c.720G>A n.2321G>A n.2035G>A c.2014G>A (p.Val672Ile) c.1284G>A n.1534G>A c.2005G>A (p.Val669Ile) c.1936G>A (p.Val646Ile) | |
9 | g.69236968G>C | CA373532772 | TJP2 | c.2011G>C (p.Val671Leu) c.2023G>C (p.Val675Leu) c.2104G>C (p.Val702Leu) n.2090G>C c.2188G>C (p.Val730Leu) c.2398G>C (p.Val800Leu) c.*2199G>C (n.*2199G>C) c.*2318G>C (n.*2318G>C) c.1942G>C (p.Val648Leu) c.720G>C n.2321G>C n.2035G>C c.2014G>C (p.Val672Leu) c.1284G>C n.1534G>C c.2005G>C (p.Val669Leu) c.1936G>C (p.Val646Leu) | |
9 | g.69236968G>T | CA373532773 | TJP2 | c.2011G>T (p.Val671Phe) c.2023G>T (p.Val675Phe) c.2104G>T (p.Val702Phe) n.2090G>T c.2188G>T (p.Val730Phe) c.2398G>T (p.Val800Phe) c.*2199G>T (n.*2199G>T) c.*2318G>T (n.*2318G>T) c.1942G>T (p.Val648Phe) c.720G>T n.2321G>T n.2035G>T c.2014G>T (p.Val672Phe) c.1284G>T n.1534G>T c.2005G>T (p.Val669Phe) c.1936G>T (p.Val646Phe) | |
9 | g.69236969T>A | CA373532776 | TJP2 | c.2012T>A (p.Val671Asp) c.2024T>A (p.Val675Asp) c.2105T>A (p.Val702Asp) n.2091T>A c.2189T>A (p.Val730Asp) c.2399T>A (p.Val800Asp) c.*2200T>A (n.*2200T>A) c.*2319T>A (n.*2319T>A) c.1943T>A (p.Val648Asp) c.721T>A n.2322T>A n.2036T>A c.2015T>A (p.Val672Asp) c.1285T>A n.1535T>A c.2006T>A (p.Val669Asp) c.1937T>A (p.Val646Asp) | |
9 | g.69236969T>C | CA373532774 | TJP2 | c.2012T>C (p.Val671Ala) c.2024T>C (p.Val675Ala) c.2105T>C (p.Val702Ala) n.2091T>C c.2189T>C (p.Val730Ala) c.2399T>C (p.Val800Ala) c.*2200T>C (n.*2200T>C) c.*2319T>C (n.*2319T>C) c.1943T>C (p.Val648Ala) c.721T>C n.2322T>C n.2036T>C c.2015T>C (p.Val672Ala) c.1285T>C n.1535T>C c.2006T>C (p.Val669Ala) c.1937T>C (p.Val646Ala) | |
9 | g.69236969T>G | CA373532775 | TJP2 | c.2012T>G (p.Val671Gly) c.2024T>G (p.Val675Gly) c.2105T>G (p.Val702Gly) n.2091T>G c.2189T>G (p.Val730Gly) c.2399T>G (p.Val800Gly) c.*2200T>G (n.*2200T>G) c.*2319T>G (n.*2319T>G) c.1943T>G (p.Val648Gly) c.721T>G n.2322T>G n.2036T>G c.2015T>G (p.Val672Gly) c.1285T>G n.1535T>G c.2006T>G (p.Val669Gly) c.1937T>G (p.Val646Gly) | |
9 | g.69236970T>A | CA465252608 | TJP2 | c.2013T>A (p.Val671=) c.2025T>A (p.Val675=) c.2106T>A (p.Val702=) n.2092T>A c.2190T>A (p.Val730=) c.2400T>A (p.Val800=) c.*2201T>A (n.*2201T>A) c.*2320T>A (n.*2320T>A) c.1944T>A (p.Val648=) c.722T>A n.2323T>A n.2037T>A c.2016T>A (p.Val672=) c.1286T>A n.1536T>A c.2007T>A (p.Val669=) c.1938T>A (p.Val646=) |