| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.141168393_141168419del | CA2688780424 | DENND3 | c.2143_2169del (p.Asp715_Leu723del) c.1903_1929del (p.Asp635_Leu643del) c.1747_1773del (p.Asp583_Leu591del) c.1916_1942del n.1684_1710del c.1942_1968del (p.Asp648_Leu656del) c.1786_1812del (p.Asp596_Leu604del) c.1909_1935del (p.Asp637_Leu645del) c.1399_1425del (p.Asp467_Leu475del) c.1576_1602del (p.Asp526_Leu534del) c.1570_1596del (p.Asp524_Leu532del) c.1111_1137del (p.Asp371_Leu379del) c.640_666del (p.Asp214_Leu222del) n.2072_2098del n.2239_2265del c.1987_2013del (p.Asp663_Leu671del) c.679_705del (p.Asp227_Leu235del) n.2289_2315del n.2262_2288del | gnomAD v4 |
| 8 | g.141168410del | CA16044030 | DENND3 | c.2160del (p.Lys720AsnfsTer15) c.1920del (p.Lys640AsnfsTer15) c.1764del (p.Lys588AsnfsTer15) c.1933del n.1701del c.1959del (p.Lys653AsnfsTer15) c.1803del (p.Lys601AsnfsTer15) c.1926del (p.Lys642AsnfsTer15) c.1416del (p.Lys472AsnfsTer15) c.1593del (p.Lys531AsnfsTer15) c.1587del (p.Lys529AsnfsTer15) c.1128del (p.Lys376AsnfsTer15) c.657del (p.Lys219AsnfsTer15) n.2089del n.2256del c.2004del (p.Lys668AsnfsTer15) c.696del (p.Lys232AsnfsTer15) n.2306del n.2279del | ClinVar dbSNP |
| 8 | g.141168410G>A | CA463496995 | DENND3 | c.2160G>A (p.Lys720=) c.1920G>A (p.Lys640=) c.1764G>A (p.Lys588=) c.1933G>A n.1701G>A c.1959G>A (p.Lys653=) c.1803G>A (p.Lys601=) c.1926G>A (p.Lys642=) c.1416G>A (p.Lys472=) c.1593G>A (p.Lys531=) c.1587G>A (p.Lys529=) c.1128G>A (p.Lys376=) c.657G>A (p.Lys219=) n.2089G>A n.2256G>A c.2004G>A (p.Lys668=) c.696G>A (p.Lys232=) n.2306G>A n.2279G>A | |
| 8 | g.141168410G>C | CA372344349 | DENND3 | c.2160G>C (p.Lys720Asn) c.1920G>C (p.Lys640Asn) c.1764G>C (p.Lys588Asn) c.1933G>C n.1701G>C c.1959G>C (p.Lys653Asn) c.1803G>C (p.Lys601Asn) c.1926G>C (p.Lys642Asn) c.1416G>C (p.Lys472Asn) c.1593G>C (p.Lys531Asn) c.1587G>C (p.Lys529Asn) c.1128G>C (p.Lys376Asn) c.657G>C (p.Lys219Asn) n.2089G>C n.2256G>C c.2004G>C (p.Lys668Asn) c.696G>C (p.Lys232Asn) n.2306G>C n.2279G>C | dbSNP |
| 8 | g.141168410G>T | CA372344350 | DENND3 | c.2160G>T (p.Lys720Asn) c.1920G>T (p.Lys640Asn) c.1764G>T (p.Lys588Asn) c.1933G>T n.1701G>T c.1959G>T (p.Lys653Asn) c.1803G>T (p.Lys601Asn) c.1926G>T (p.Lys642Asn) c.1416G>T (p.Lys472Asn) c.1593G>T (p.Lys531Asn) c.1587G>T (p.Lys529Asn) c.1128G>T (p.Lys376Asn) c.657G>T (p.Lys219Asn) n.2089G>T n.2256G>T c.2004G>T (p.Lys668Asn) c.696G>T (p.Lys232Asn) n.2306G>T n.2279G>T | |
| 8 | g.141168411T>A | CA372344351 | DENND3 | c.2161T>A (p.Phe721Ile) c.1921T>A (p.Phe641Ile) c.1765T>A (p.Phe589Ile) c.1934T>A n.1702T>A c.1960T>A (p.Phe654Ile) c.1804T>A (p.Phe602Ile) c.1927T>A (p.Phe643Ile) c.1417T>A (p.Phe473Ile) c.1594T>A (p.Phe532Ile) c.1588T>A (p.Phe530Ile) c.1129T>A (p.Phe377Ile) c.658T>A (p.Phe220Ile) n.2090T>A n.2257T>A c.2005T>A (p.Phe669Ile) c.697T>A (p.Phe233Ile) n.2307T>A n.2280T>A | |
| 8 | g.141168411T>C | CA372344352 | DENND3 | c.2161T>C (p.Phe721Leu) c.1921T>C (p.Phe641Leu) c.1765T>C (p.Phe589Leu) c.1934T>C n.1702T>C c.1960T>C (p.Phe654Leu) c.1804T>C (p.Phe602Leu) c.1927T>C (p.Phe643Leu) c.1417T>C (p.Phe473Leu) c.1594T>C (p.Phe532Leu) c.1588T>C (p.Phe530Leu) c.1129T>C (p.Phe377Leu) c.658T>C (p.Phe220Leu) n.2090T>C n.2257T>C c.2005T>C (p.Phe669Leu) c.697T>C (p.Phe233Leu) n.2307T>C n.2280T>C | |
| 8 | g.141168411T>G | CA372344353 | DENND3 | c.2161T>G (p.Phe721Val) c.1921T>G (p.Phe641Val) c.1765T>G (p.Phe589Val) c.1934T>G n.1702T>G c.1960T>G (p.Phe654Val) c.1804T>G (p.Phe602Val) c.1927T>G (p.Phe643Val) c.1417T>G (p.Phe473Val) c.1594T>G (p.Phe532Val) c.1588T>G (p.Phe530Val) c.1129T>G (p.Phe377Val) c.658T>G (p.Phe220Val) n.2090T>G n.2257T>G c.2005T>G (p.Phe669Val) c.697T>G (p.Phe233Val) n.2307T>G n.2280T>G | |
| 8 | g.141168412del | CA2695210339 | DENND3 | c.2162del (p.Phe721SerfsTer14) c.1922del (p.Phe641SerfsTer14) c.1766del (p.Phe589SerfsTer14) c.1935del n.1703del c.1961del (p.Phe654SerfsTer14) c.1805del (p.Phe602SerfsTer14) c.1928del (p.Phe643SerfsTer14) c.1418del (p.Phe473SerfsTer14) c.1595del (p.Phe532SerfsTer14) c.1589del (p.Phe530SerfsTer14) c.1130del (p.Phe377SerfsTer14) c.659del (p.Phe220SerfsTer14) n.2091del n.2258del c.2006del (p.Phe669SerfsTer14) c.698del (p.Phe233SerfsTer14) n.2308del n.2281del | |
| 8 | g.141168412T>A | CA372344356 | DENND3 | c.2162T>A (p.Phe721Tyr) c.1922T>A (p.Phe641Tyr) c.1766T>A (p.Phe589Tyr) c.1935T>A n.1703T>A c.1961T>A (p.Phe654Tyr) c.1805T>A (p.Phe602Tyr) c.1928T>A (p.Phe643Tyr) c.1418T>A (p.Phe473Tyr) c.1595T>A (p.Phe532Tyr) c.1589T>A (p.Phe530Tyr) c.1130T>A (p.Phe377Tyr) c.659T>A (p.Phe220Tyr) n.2091T>A n.2258T>A c.2006T>A (p.Phe669Tyr) c.698T>A (p.Phe233Tyr) n.2308T>A n.2281T>A | |
| 8 | g.141168412T>C | CA372344354 | DENND3 | c.2162T>C (p.Phe721Ser) c.1922T>C (p.Phe641Ser) c.1766T>C (p.Phe589Ser) c.1935T>C n.1703T>C c.1961T>C (p.Phe654Ser) c.1805T>C (p.Phe602Ser) c.1928T>C (p.Phe643Ser) c.1418T>C (p.Phe473Ser) c.1595T>C (p.Phe532Ser) c.1589T>C (p.Phe530Ser) c.1130T>C (p.Phe377Ser) c.659T>C (p.Phe220Ser) n.2091T>C n.2258T>C c.2006T>C (p.Phe669Ser) c.698T>C (p.Phe233Ser) n.2308T>C n.2281T>C | |
| 8 | g.141168412T>G | CA372344355 | DENND3 | c.2162T>G (p.Phe721Cys) c.1922T>G (p.Phe641Cys) c.1766T>G (p.Phe589Cys) c.1935T>G n.1703T>G c.1961T>G (p.Phe654Cys) c.1805T>G (p.Phe602Cys) c.1928T>G (p.Phe643Cys) c.1418T>G (p.Phe473Cys) c.1595T>G (p.Phe532Cys) c.1589T>G (p.Phe530Cys) c.1130T>G (p.Phe377Cys) c.659T>G (p.Phe220Cys) n.2091T>G n.2258T>G c.2006T>G (p.Phe669Cys) c.698T>G (p.Phe233Cys) n.2308T>G n.2281T>G | |
| 8 | g.141168413C>A | CA372344357 | DENND3 | c.2163C>A (p.Phe721Leu) c.1923C>A (p.Phe641Leu) c.1767C>A (p.Phe589Leu) c.1936C>A n.1704C>A c.1962C>A (p.Phe654Leu) c.1806C>A (p.Phe602Leu) c.1929C>A (p.Phe643Leu) c.1419C>A (p.Phe473Leu) c.1596C>A (p.Phe532Leu) c.1590C>A (p.Phe530Leu) c.1131C>A (p.Phe377Leu) c.660C>A (p.Phe220Leu) n.2092C>A n.2259C>A c.2007C>A (p.Phe669Leu) c.699C>A (p.Phe233Leu) n.2309C>A n.2282C>A | |
| 8 | g.141168413C>G | CA372344358 | DENND3 | c.2163C>G (p.Phe721Leu) c.1923C>G (p.Phe641Leu) c.1767C>G (p.Phe589Leu) c.1936C>G n.1704C>G c.1962C>G (p.Phe654Leu) c.1806C>G (p.Phe602Leu) c.1929C>G (p.Phe643Leu) c.1419C>G (p.Phe473Leu) c.1596C>G (p.Phe532Leu) c.1590C>G (p.Phe530Leu) c.1131C>G (p.Phe377Leu) c.660C>G (p.Phe220Leu) n.2092C>G n.2259C>G c.2007C>G (p.Phe669Leu) c.699C>G (p.Phe233Leu) n.2309C>G n.2282C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.141168413C>T | CA463496997 | DENND3 | c.2163C>T (p.Phe721=) c.1923C>T (p.Phe641=) c.1767C>T (p.Phe589=) c.1936C>T n.1704C>T c.1962C>T (p.Phe654=) c.1806C>T (p.Phe602=) c.1929C>T (p.Phe643=) c.1419C>T (p.Phe473=) c.1596C>T (p.Phe532=) c.1590C>T (p.Phe530=) c.1131C>T (p.Phe377=) c.660C>T (p.Phe220=) n.2092C>T n.2259C>T c.2007C>T (p.Phe669=) c.699C>T (p.Phe233=) n.2309C>T n.2282C>T | |
| 8 | g.141168414A>C | CA372344359 | DENND3 | c.2164A>C (p.Lys722Gln) c.1924A>C (p.Lys642Gln) c.1768A>C (p.Lys590Gln) c.1937A>C n.1705A>C c.1963A>C (p.Lys655Gln) c.1807A>C (p.Lys603Gln) c.1930A>C (p.Lys644Gln) c.1420A>C (p.Lys474Gln) c.1597A>C (p.Lys533Gln) c.1591A>C (p.Lys531Gln) c.1132A>C (p.Lys378Gln) c.661A>C (p.Lys221Gln) n.2093A>C n.2260A>C c.2008A>C (p.Lys670Gln) c.700A>C (p.Lys234Gln) n.2310A>C n.2283A>C | |
| 8 | g.141168414A>G | CA4896818 | DENND3 | c.2164A>G (p.Lys722Glu) c.1924A>G (p.Lys642Glu) c.1768A>G (p.Lys590Glu) c.1937A>G n.1705A>G c.1963A>G (p.Lys655Glu) c.1807A>G (p.Lys603Glu) c.1930A>G (p.Lys644Glu) c.1420A>G (p.Lys474Glu) c.1597A>G (p.Lys533Glu) c.1591A>G (p.Lys531Glu) c.1132A>G (p.Lys378Glu) c.661A>G (p.Lys221Glu) n.2093A>G n.2260A>G c.2008A>G (p.Lys670Glu) c.700A>G (p.Lys234Glu) n.2310A>G n.2283A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.141168414A>T | CA372344360 | DENND3 | c.2164A>T (p.Lys722Ter) c.1924A>T (p.Lys642Ter) c.1768A>T (p.Lys590Ter) c.1937A>T n.1705A>T c.1963A>T (p.Lys655Ter) c.1807A>T (p.Lys603Ter) c.1930A>T (p.Lys644Ter) c.1420A>T (p.Lys474Ter) c.1597A>T (p.Lys533Ter) c.1591A>T (p.Lys531Ter) c.1132A>T (p.Lys378Ter) c.661A>T (p.Lys221Ter) n.2093A>T n.2260A>T c.2008A>T (p.Lys670Ter) c.700A>T (p.Lys234Ter) n.2310A>T n.2283A>T | |
| 8 | g.141168415A>C | CA372344361 | DENND3 | c.2165A>C (p.Lys722Thr) c.1925A>C (p.Lys642Thr) c.1769A>C (p.Lys590Thr) c.1938A>C n.1706A>C c.1964A>C (p.Lys655Thr) c.1808A>C (p.Lys603Thr) c.1931A>C (p.Lys644Thr) c.1421A>C (p.Lys474Thr) c.1598A>C (p.Lys533Thr) c.1592A>C (p.Lys531Thr) c.1133A>C (p.Lys378Thr) c.662A>C (p.Lys221Thr) n.2094A>C n.2261A>C c.2009A>C (p.Lys670Thr) c.701A>C (p.Lys234Thr) n.2311A>C n.2284A>C | |
| 8 | g.141168415A>G | CA372344362 | DENND3 | c.2165A>G (p.Lys722Arg) c.1925A>G (p.Lys642Arg) c.1769A>G (p.Lys590Arg) c.1938A>G n.1706A>G c.1964A>G (p.Lys655Arg) c.1808A>G (p.Lys603Arg) c.1931A>G (p.Lys644Arg) c.1421A>G (p.Lys474Arg) c.1598A>G (p.Lys533Arg) c.1592A>G (p.Lys531Arg) c.1133A>G (p.Lys378Arg) c.662A>G (p.Lys221Arg) n.2094A>G n.2261A>G c.2009A>G (p.Lys670Arg) c.701A>G (p.Lys234Arg) n.2311A>G n.2284A>G | gnomAD v4 |
| 8 | g.141168415A>T | CA372344363 | DENND3 | c.2165A>T (p.Lys722Met) c.1925A>T (p.Lys642Met) c.1769A>T (p.Lys590Met) c.1938A>T n.1706A>T c.1964A>T (p.Lys655Met) c.1808A>T (p.Lys603Met) c.1931A>T (p.Lys644Met) c.1421A>T (p.Lys474Met) c.1598A>T (p.Lys533Met) c.1592A>T (p.Lys531Met) c.1133A>T (p.Lys378Met) c.662A>T (p.Lys221Met) n.2094A>T n.2261A>T c.2009A>T (p.Lys670Met) c.701A>T (p.Lys234Met) n.2311A>T n.2284A>T | |
| 8 | g.141168416G>A | CA463496999 | DENND3 | c.2166G>A (p.Lys722=) c.1926G>A (p.Lys642=) c.1770G>A (p.Lys590=) c.1939G>A n.1707G>A c.1965G>A (p.Lys655=) c.1809G>A (p.Lys603=) c.1932G>A (p.Lys644=) c.1422G>A (p.Lys474=) c.1599G>A (p.Lys533=) c.1593G>A (p.Lys531=) c.1134G>A (p.Lys378=) c.663G>A (p.Lys221=) n.2095G>A n.2262G>A c.2010G>A (p.Lys670=) c.702G>A (p.Lys234=) n.2312G>A n.2285G>A | |
| 8 | g.141168416G>C | CA372344364 | DENND3 | c.2166G>C (p.Lys722Asn) c.1926G>C (p.Lys642Asn) c.1770G>C (p.Lys590Asn) c.1939G>C n.1707G>C c.1965G>C (p.Lys655Asn) c.1809G>C (p.Lys603Asn) c.1932G>C (p.Lys644Asn) c.1422G>C (p.Lys474Asn) c.1599G>C (p.Lys533Asn) c.1593G>C (p.Lys531Asn) c.1134G>C (p.Lys378Asn) c.663G>C (p.Lys221Asn) n.2095G>C n.2262G>C c.2010G>C (p.Lys670Asn) c.702G>C (p.Lys234Asn) n.2312G>C n.2285G>C | |
| 8 | g.141168416G>T | CA372344365 | DENND3 | c.2166G>T (p.Lys722Asn) c.1926G>T (p.Lys642Asn) c.1770G>T (p.Lys590Asn) c.1939G>T n.1707G>T c.1965G>T (p.Lys655Asn) c.1809G>T (p.Lys603Asn) c.1932G>T (p.Lys644Asn) c.1422G>T (p.Lys474Asn) c.1599G>T (p.Lys533Asn) c.1593G>T (p.Lys531Asn) c.1134G>T (p.Lys378Asn) c.663G>T (p.Lys221Asn) n.2095G>T n.2262G>T c.2010G>T (p.Lys670Asn) c.702G>T (p.Lys234Asn) n.2312G>T n.2285G>T | |
| 8 | g.141168417C>A | CA372344366 | DENND3 | c.2167C>A (p.Leu723Met) c.1927C>A (p.Leu643Met) c.1771C>A (p.Leu591Met) c.1940C>A n.1708C>A c.1966C>A (p.Leu656Met) c.1810C>A (p.Leu604Met) c.1933C>A (p.Leu645Met) c.1423C>A (p.Leu475Met) c.1600C>A (p.Leu534Met) c.1594C>A (p.Leu532Met) c.1135C>A (p.Leu379Met) c.664C>A (p.Leu222Met) n.2096C>A n.2263C>A c.2011C>A (p.Leu671Met) c.703C>A (p.Leu235Met) n.2313C>A n.2286C>A | gnomAD v4 |
| 8 | g.141168417C>G | CA4896819 | DENND3 | c.2167C>G (p.Leu723Val) c.1927C>G (p.Leu643Val) c.1771C>G (p.Leu591Val) c.1940C>G n.1708C>G c.1966C>G (p.Leu656Val) c.1810C>G (p.Leu604Val) c.1933C>G (p.Leu645Val) c.1423C>G (p.Leu475Val) c.1600C>G (p.Leu534Val) c.1594C>G (p.Leu532Val) c.1135C>G (p.Leu379Val) c.664C>G (p.Leu222Val) n.2096C>G n.2263C>G c.2011C>G (p.Leu671Val) c.703C>G (p.Leu235Val) n.2313C>G n.2286C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.141168417C>T | CA463497000 | DENND3 | c.2167C>T (p.Leu723=) c.1927C>T (p.Leu643=) c.1771C>T (p.Leu591=) c.1940C>T n.1708C>T c.1966C>T (p.Leu656=) c.1810C>T (p.Leu604=) c.1933C>T (p.Leu645=) c.1423C>T (p.Leu475=) c.1600C>T (p.Leu534=) c.1594C>T (p.Leu532=) c.1135C>T (p.Leu379=) c.664C>T (p.Leu222=) n.2096C>T n.2263C>T c.2011C>T (p.Leu671=) c.703C>T (p.Leu235=) n.2313C>T n.2286C>T | |
| 8 | g.141168418T>A | CA372344368 | DENND3 | c.2168T>A (p.Leu723Gln) c.1928T>A (p.Leu643Gln) c.1772T>A (p.Leu591Gln) c.1941T>A n.1709T>A c.1967T>A (p.Leu656Gln) c.1811T>A (p.Leu604Gln) c.1934T>A (p.Leu645Gln) c.1424T>A (p.Leu475Gln) c.1601T>A (p.Leu534Gln) c.1595T>A (p.Leu532Gln) c.1136T>A (p.Leu379Gln) c.665T>A (p.Leu222Gln) n.2097T>A n.2264T>A c.2012T>A (p.Leu671Gln) c.704T>A (p.Leu235Gln) n.2314T>A n.2287T>A | |
| 8 | g.141168418T>C | CA372344369 | DENND3 | c.2168T>C (p.Leu723Pro) c.1928T>C (p.Leu643Pro) c.1772T>C (p.Leu591Pro) c.1941T>C n.1709T>C c.1967T>C (p.Leu656Pro) c.1811T>C (p.Leu604Pro) c.1934T>C (p.Leu645Pro) c.1424T>C (p.Leu475Pro) c.1601T>C (p.Leu534Pro) c.1595T>C (p.Leu532Pro) c.1136T>C (p.Leu379Pro) c.665T>C (p.Leu222Pro) n.2097T>C n.2264T>C c.2012T>C (p.Leu671Pro) c.704T>C (p.Leu235Pro) n.2314T>C n.2287T>C | |
| 8 | g.141168418T>G | CA372344367 | DENND3 | c.2168T>G (p.Leu723Arg) c.1928T>G (p.Leu643Arg) c.1772T>G (p.Leu591Arg) c.1941T>G n.1709T>G c.1967T>G (p.Leu656Arg) c.1811T>G (p.Leu604Arg) c.1934T>G (p.Leu645Arg) c.1424T>G (p.Leu475Arg) c.1601T>G (p.Leu534Arg) c.1595T>G (p.Leu532Arg) c.1136T>G (p.Leu379Arg) c.665T>G (p.Leu222Arg) n.2097T>G n.2264T>G c.2012T>G (p.Leu671Arg) c.704T>G (p.Leu235Arg) n.2314T>G n.2287T>G | |
| 8 | g.141168419G>A | CA463497005 | DENND3 | c.2169G>A (p.Leu723=) c.1929G>A (p.Leu643=) c.1773G>A (p.Leu591=) c.1942G>A n.1710G>A c.1968G>A (p.Leu656=) c.1812G>A (p.Leu604=) c.1935G>A (p.Leu645=) c.1425G>A (p.Leu475=) c.1602G>A (p.Leu534=) c.1596G>A (p.Leu532=) c.1137G>A (p.Leu379=) c.666G>A (p.Leu222=) n.2098G>A n.2265G>A c.2013G>A (p.Leu671=) c.705G>A (p.Leu235=) n.2315G>A n.2288G>A | COSMIC |
| 8 | g.141168419G>C | CA463497003 | DENND3 | c.2169G>C (p.Leu723=) c.1929G>C (p.Leu643=) c.1773G>C (p.Leu591=) c.1942G>C n.1710G>C c.1968G>C (p.Leu656=) c.1812G>C (p.Leu604=) c.1935G>C (p.Leu645=) c.1425G>C (p.Leu475=) c.1602G>C (p.Leu534=) c.1596G>C (p.Leu532=) c.1137G>C (p.Leu379=) c.666G>C (p.Leu222=) n.2098G>C n.2265G>C c.2013G>C (p.Leu671=) c.705G>C (p.Leu235=) n.2315G>C n.2288G>C | gnomAD v4 |
| 8 | g.141168419G>T | CA463497001 | DENND3 | c.2169G>T (p.Leu723=) c.1929G>T (p.Leu643=) c.1773G>T (p.Leu591=) c.1942G>T n.1710G>T c.1968G>T (p.Leu656=) c.1812G>T (p.Leu604=) c.1935G>T (p.Leu645=) c.1425G>T (p.Leu475=) c.1602G>T (p.Leu534=) c.1596G>T (p.Leu532=) c.1137G>T (p.Leu379=) c.666G>T (p.Leu222=) n.2098G>T n.2265G>T c.2013G>T (p.Leu671=) c.705G>T (p.Leu235=) n.2315G>T n.2288G>T | |
| 8 | g.141168420C>A | CA372344371 | DENND3 | c.2170C>A (p.Pro724Thr) c.1930C>A (p.Pro644Thr) c.1774C>A (p.Pro592Thr) c.1943C>A n.1711C>A c.1969C>A (p.Pro657Thr) c.1813C>A (p.Pro605Thr) c.1936C>A (p.Pro646Thr) c.1426C>A (p.Pro476Thr) c.1603C>A (p.Pro535Thr) c.1597C>A (p.Pro533Thr) c.1138C>A (p.Pro380Thr) c.667C>A (p.Pro223Thr) n.2099C>A n.2266C>A c.2014C>A (p.Pro672Thr) c.706C>A (p.Pro236Thr) n.2316C>A n.2289C>A | |
| 8 | g.141168420C>G | CA372344370 | DENND3 | c.2170C>G (p.Pro724Ala) c.1930C>G (p.Pro644Ala) c.1774C>G (p.Pro592Ala) c.1943C>G n.1711C>G c.1969C>G (p.Pro657Ala) c.1813C>G (p.Pro605Ala) c.1936C>G (p.Pro646Ala) c.1426C>G (p.Pro476Ala) c.1603C>G (p.Pro535Ala) c.1597C>G (p.Pro533Ala) c.1138C>G (p.Pro380Ala) c.667C>G (p.Pro223Ala) n.2099C>G n.2266C>G c.2014C>G (p.Pro672Ala) c.706C>G (p.Pro236Ala) n.2316C>G n.2289C>G | |
| 8 | g.141168420C>T | CA372344372 | DENND3 | c.2170C>T (p.Pro724Ser) c.1930C>T (p.Pro644Ser) c.1774C>T (p.Pro592Ser) c.1943C>T n.1711C>T c.1969C>T (p.Pro657Ser) c.1813C>T (p.Pro605Ser) c.1936C>T (p.Pro646Ser) c.1426C>T (p.Pro476Ser) c.1603C>T (p.Pro535Ser) c.1597C>T (p.Pro533Ser) c.1138C>T (p.Pro380Ser) c.667C>T (p.Pro223Ser) n.2099C>T n.2266C>T c.2014C>T (p.Pro672Ser) c.706C>T (p.Pro236Ser) n.2316C>T n.2289C>T | gnomAD v4 |
| 8 | g.141168421C>A | CA372344373 | DENND3 | c.2171C>A (p.Pro724His) c.1931C>A (p.Pro644His) c.1775C>A (p.Pro592His) c.1944C>A n.1712C>A c.1970C>A (p.Pro657His) c.1814C>A (p.Pro605His) c.1937C>A (p.Pro646His) c.1427C>A (p.Pro476His) c.1604C>A (p.Pro535His) c.1598C>A (p.Pro533His) c.1139C>A (p.Pro380His) c.668C>A (p.Pro223His) n.2100C>A n.2267C>A c.2015C>A (p.Pro672His) c.707C>A (p.Pro236His) n.2317C>A n.2290C>A | |
| 8 | g.141168421C>G | CA372344374 | DENND3 | c.2171C>G (p.Pro724Arg) c.1931C>G (p.Pro644Arg) c.1775C>G (p.Pro592Arg) c.1944C>G n.1712C>G c.1970C>G (p.Pro657Arg) c.1814C>G (p.Pro605Arg) c.1937C>G (p.Pro646Arg) c.1427C>G (p.Pro476Arg) c.1604C>G (p.Pro535Arg) c.1598C>G (p.Pro533Arg) c.1139C>G (p.Pro380Arg) c.668C>G (p.Pro223Arg) n.2100C>G n.2267C>G c.2015C>G (p.Pro672Arg) c.707C>G (p.Pro236Arg) n.2317C>G n.2290C>G | |
| 8 | g.141168421C>T | CA372344375 | DENND3 | c.2171C>T (p.Pro724Leu) c.1931C>T (p.Pro644Leu) c.1775C>T (p.Pro592Leu) c.1944C>T n.1712C>T c.1970C>T (p.Pro657Leu) c.1814C>T (p.Pro605Leu) c.1937C>T (p.Pro646Leu) c.1427C>T (p.Pro476Leu) c.1604C>T (p.Pro535Leu) c.1598C>T (p.Pro533Leu) c.1139C>T (p.Pro380Leu) c.668C>T (p.Pro223Leu) n.2100C>T n.2267C>T c.2015C>T (p.Pro672Leu) c.707C>T (p.Pro236Leu) n.2317C>T n.2290C>T | |
| 8 | g.141168422C>A | CA463497006 | DENND3 | c.2172C>A (p.Pro724=) c.1932C>A (p.Pro644=) c.1776C>A (p.Pro592=) c.1945C>A n.1713C>A c.1971C>A (p.Pro657=) c.1815C>A (p.Pro605=) c.1938C>A (p.Pro646=) c.1428C>A (p.Pro476=) c.1605C>A (p.Pro535=) c.1599C>A (p.Pro533=) c.1140C>A (p.Pro380=) c.669C>A (p.Pro223=) n.2101C>A n.2268C>A c.2016C>A (p.Pro672=) c.708C>A (p.Pro236=) n.2318C>A n.2291C>A | |
| 8 | g.141168422C>G | CA463497007 | DENND3 | c.2172C>G (p.Pro724=) c.1932C>G (p.Pro644=) c.1776C>G (p.Pro592=) c.1945C>G n.1713C>G c.1971C>G (p.Pro657=) c.1815C>G (p.Pro605=) c.1938C>G (p.Pro646=) c.1428C>G (p.Pro476=) c.1605C>G (p.Pro535=) c.1599C>G (p.Pro533=) c.1140C>G (p.Pro380=) c.669C>G (p.Pro223=) n.2101C>G n.2268C>G c.2016C>G (p.Pro672=) c.708C>G (p.Pro236=) n.2318C>G n.2291C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.141168422C>T | CA463497008 | DENND3 | c.2172C>T (p.Pro724=) c.1932C>T (p.Pro644=) c.1776C>T (p.Pro592=) c.1945C>T n.1713C>T c.1971C>T (p.Pro657=) c.1815C>T (p.Pro605=) c.1938C>T (p.Pro646=) c.1428C>T (p.Pro476=) c.1605C>T (p.Pro535=) c.1599C>T (p.Pro533=) c.1140C>T (p.Pro380=) c.669C>T (p.Pro223=) n.2101C>T n.2268C>T c.2016C>T (p.Pro672=) c.708C>T (p.Pro236=) n.2318C>T n.2291C>T | |
| 8 | g.141168423A>C | CA372344376 | DENND3 | c.2173A>C (p.Lys725Gln) c.1933A>C (p.Lys645Gln) c.1777A>C (p.Lys593Gln) c.1946A>C n.1714A>C c.1972A>C (p.Lys658Gln) c.1816A>C (p.Lys606Gln) c.1939A>C (p.Lys647Gln) c.1429A>C (p.Lys477Gln) c.1606A>C (p.Lys536Gln) c.1600A>C (p.Lys534Gln) c.1141A>C (p.Lys381Gln) c.670A>C (p.Lys224Gln) n.2102A>C n.2269A>C c.2017A>C (p.Lys673Gln) c.709A>C (p.Lys237Gln) n.2319A>C n.2292A>C | gnomAD v4 |
| 8 | g.141168423A>G | CA372344377 | DENND3 | c.2173A>G (p.Lys725Glu) c.1933A>G (p.Lys645Glu) c.1777A>G (p.Lys593Glu) c.1946A>G n.1714A>G c.1972A>G (p.Lys658Glu) c.1816A>G (p.Lys606Glu) c.1939A>G (p.Lys647Glu) c.1429A>G (p.Lys477Glu) c.1606A>G (p.Lys536Glu) c.1600A>G (p.Lys534Glu) c.1141A>G (p.Lys381Glu) c.670A>G (p.Lys224Glu) n.2102A>G n.2269A>G c.2017A>G (p.Lys673Glu) c.709A>G (p.Lys237Glu) n.2319A>G n.2292A>G | dbSNP |
| 8 | g.141168423A>T | CA372344378 | DENND3 | c.2173A>T (p.Lys725Ter) c.1933A>T (p.Lys645Ter) c.1777A>T (p.Lys593Ter) c.1946A>T n.1714A>T c.1972A>T (p.Lys658Ter) c.1816A>T (p.Lys606Ter) c.1939A>T (p.Lys647Ter) c.1429A>T (p.Lys477Ter) c.1606A>T (p.Lys536Ter) c.1600A>T (p.Lys534Ter) c.1141A>T (p.Lys381Ter) c.670A>T (p.Lys224Ter) n.2102A>T n.2269A>T c.2017A>T (p.Lys673Ter) c.709A>T (p.Lys237Ter) n.2319A>T n.2292A>T | |
| 8 | g.141168426_141168428del | CA2688780432 | DENND3 | c.2176_2178del (p.Lys726del) c.1936_1938del (p.Lys646del) c.1780_1782del (p.Lys594del) c.1949_1951del n.1717_1719del c.1975_1977del (p.Lys659del) c.1819_1821del (p.Lys607del) c.1942_1944del (p.Lys648del) c.1432_1434del (p.Lys478del) c.1609_1611del (p.Lys537del) c.1603_1605del (p.Lys535del) c.1144_1146del (p.Lys382del) c.673_675del (p.Lys225del) n.2105_2107del n.2272_2274del c.2020_2022del (p.Lys674del) c.712_714del (p.Lys238del) n.2322_2324del n.2295_2297del | gnomAD v4 |
| 8 | g.141168424A>C | CA372344379 | DENND3 | c.2174A>C (p.Lys725Thr) c.1934A>C (p.Lys645Thr) c.1778A>C (p.Lys593Thr) c.1947A>C n.1715A>C c.1973A>C (p.Lys658Thr) c.1817A>C (p.Lys606Thr) c.1940A>C (p.Lys647Thr) c.1430A>C (p.Lys477Thr) c.1607A>C (p.Lys536Thr) c.1601A>C (p.Lys534Thr) c.1142A>C (p.Lys381Thr) c.671A>C (p.Lys224Thr) n.2103A>C n.2270A>C c.2018A>C (p.Lys673Thr) c.710A>C (p.Lys237Thr) n.2320A>C n.2293A>C | |
| 8 | g.141168424A>G | CA372344380 | DENND3 | c.2174A>G (p.Lys725Arg) c.1934A>G (p.Lys645Arg) c.1778A>G (p.Lys593Arg) c.1947A>G n.1715A>G c.1973A>G (p.Lys658Arg) c.1817A>G (p.Lys606Arg) c.1940A>G (p.Lys647Arg) c.1430A>G (p.Lys477Arg) c.1607A>G (p.Lys536Arg) c.1601A>G (p.Lys534Arg) c.1142A>G (p.Lys381Arg) c.671A>G (p.Lys224Arg) n.2103A>G n.2270A>G c.2018A>G (p.Lys673Arg) c.710A>G (p.Lys237Arg) n.2320A>G n.2293A>G | dbSNP gnomAD v4 |
| 8 | g.141168424A>T | CA372344381 | DENND3 | c.2174A>T (p.Lys725Met) c.1934A>T (p.Lys645Met) c.1778A>T (p.Lys593Met) c.1947A>T n.1715A>T c.1973A>T (p.Lys658Met) c.1817A>T (p.Lys606Met) c.1940A>T (p.Lys647Met) c.1430A>T (p.Lys477Met) c.1607A>T (p.Lys536Met) c.1601A>T (p.Lys534Met) c.1142A>T (p.Lys381Met) c.671A>T (p.Lys224Met) n.2103A>T n.2270A>T c.2018A>T (p.Lys673Met) c.710A>T (p.Lys237Met) n.2320A>T n.2293A>T | |
| 8 | g.141168425del | CA848517121 | DENND3 | c.2175del (p.Lys726SerfsTer9) c.1935del (p.Lys646SerfsTer9) c.1779del (p.Lys594SerfsTer9) c.1948del n.1716del c.1974del (p.Lys659SerfsTer9) c.1818del (p.Lys607SerfsTer9) c.1941del (p.Lys648SerfsTer9) c.1431del (p.Lys478SerfsTer9) c.1608del (p.Lys537SerfsTer9) c.1602del (p.Lys535SerfsTer9) c.1143del (p.Lys382SerfsTer9) c.672del (p.Lys225SerfsTer9) n.2104del n.2271del c.2019del (p.Lys674SerfsTer9) c.711del (p.Lys238SerfsTer9) n.2321del n.2294del | dbSNP gnomAD v3 gnomAD v4 |