| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143295461T>A | CA446962013 | NR3C1 | c.2022A>T (p.Ser674=) c.1929A>T (p.Ser643=) c.2025A>T (p.Ser675=) c.1944A>T (p.Ser648=) c.1767A>T (p.Ser589=) c.1755A>T (p.Ser585=) c.1731A>T (p.Ser577=) c.1077A>T (p.Ser359=) c.1032A>T (p.Ser344=) c.1017A>T (p.Ser339=) c.831A>T (p.Ser277=) n.945A>T | |
| 5 | g.143295461T>C | CA446962012 | NR3C1 | c.2022A>G (p.Ser674=) c.1929A>G (p.Ser643=) c.2025A>G (p.Ser675=) c.1944A>G (p.Ser648=) c.1767A>G (p.Ser589=) c.1755A>G (p.Ser585=) c.1731A>G (p.Ser577=) c.1077A>G (p.Ser359=) c.1032A>G (p.Ser344=) c.1017A>G (p.Ser339=) c.831A>G (p.Ser277=) n.945A>G | |
| 5 | g.143295461T>G | CA446962011 | NR3C1 | c.2022A>C (p.Ser674=) c.1929A>C (p.Ser643=) c.2025A>C (p.Ser675=) c.1944A>C (p.Ser648=) c.1767A>C (p.Ser589=) c.1755A>C (p.Ser585=) c.1731A>C (p.Ser577=) c.1077A>C (p.Ser359=) c.1032A>C (p.Ser344=) c.1017A>C (p.Ser339=) c.831A>C (p.Ser277=) n.945A>C | |
| 5 | g.143295462G>A | CA361869139 | NR3C1 | c.2021C>T (p.Ser674Leu) c.1928C>T (p.Ser643Leu) c.2024C>T (p.Ser675Leu) c.1943C>T (p.Ser648Leu) c.1766C>T (p.Ser589Leu) c.1754C>T (p.Ser585Leu) c.1730C>T (p.Ser577Leu) c.1076C>T (p.Ser359Leu) c.1031C>T (p.Ser344Leu) c.1016C>T (p.Ser339Leu) c.830C>T (p.Ser277Leu) n.944C>T | |
| 5 | g.143295462G>C | CA361869137 | NR3C1 | c.2021C>G (p.Ser674Ter) c.1928C>G (p.Ser643Ter) c.2024C>G (p.Ser675Ter) c.1943C>G (p.Ser648Ter) c.1766C>G (p.Ser589Ter) c.1754C>G (p.Ser585Ter) c.1730C>G (p.Ser577Ter) c.1076C>G (p.Ser359Ter) c.1031C>G (p.Ser344Ter) c.1016C>G (p.Ser339Ter) c.830C>G (p.Ser277Ter) n.944C>G | |
| 5 | g.143295462G>T | CA361869138 | NR3C1 | c.2021C>A (p.Ser674Ter) c.1928C>A (p.Ser643Ter) c.2024C>A (p.Ser675Ter) c.1943C>A (p.Ser648Ter) c.1766C>A (p.Ser589Ter) c.1754C>A (p.Ser585Ter) c.1730C>A (p.Ser577Ter) c.1076C>A (p.Ser359Ter) c.1031C>A (p.Ser344Ter) c.1016C>A (p.Ser339Ter) c.830C>A (p.Ser277Ter) n.944C>A | |
| 5 | g.143295463A>C | CA361869140 | NR3C1 | c.2020T>G (p.Ser674Ala) c.1927T>G (p.Ser643Ala) c.2023T>G (p.Ser675Ala) c.1942T>G (p.Ser648Ala) c.1765T>G (p.Ser589Ala) c.1753T>G (p.Ser585Ala) c.1729T>G (p.Ser577Ala) c.1075T>G (p.Ser359Ala) c.1030T>G (p.Ser344Ala) c.1015T>G (p.Ser339Ala) c.829T>G (p.Ser277Ala) n.943T>G | |
| 5 | g.143295463A>G | CA361869141 | NR3C1 | c.2020T>C (p.Ser674Pro) c.1927T>C (p.Ser643Pro) c.2023T>C (p.Ser675Pro) c.1942T>C (p.Ser648Pro) c.1765T>C (p.Ser589Pro) c.1753T>C (p.Ser585Pro) c.1729T>C (p.Ser577Pro) c.1075T>C (p.Ser359Pro) c.1030T>C (p.Ser344Pro) c.1015T>C (p.Ser339Pro) c.829T>C (p.Ser277Pro) n.943T>C | |
| 5 | g.143295463A>T | CA361869142 | NR3C1 | c.2020T>A (p.Ser674Thr) c.1927T>A (p.Ser643Thr) c.2023T>A (p.Ser675Thr) c.1942T>A (p.Ser648Thr) c.1765T>A (p.Ser589Thr) c.1753T>A (p.Ser585Thr) c.1729T>A (p.Ser577Thr) c.1075T>A (p.Ser359Thr) c.1030T>A (p.Ser344Thr) c.1015T>A (p.Ser339Thr) c.829T>A (p.Ser277Thr) n.943T>A | |
| 5 | g.143295464A>C | CA446962014 | NR3C1 | c.2019T>G (p.Ser673=) c.1926T>G (p.Ser642=) c.2022T>G (p.Ser674=) c.1941T>G (p.Ser647=) c.1764T>G (p.Ser588=) c.1752T>G (p.Ser584=) c.1728T>G (p.Ser576=) c.1074T>G (p.Ser358=) c.1029T>G (p.Ser343=) c.1014T>G (p.Ser338=) c.828T>G (p.Ser276=) n.942T>G | |
| 5 | g.143295464A>G | CA446962015 | NR3C1 | c.2019T>C (p.Ser673=) c.1926T>C (p.Ser642=) c.2022T>C (p.Ser674=) c.1941T>C (p.Ser647=) c.1764T>C (p.Ser588=) c.1752T>C (p.Ser584=) c.1728T>C (p.Ser576=) c.1074T>C (p.Ser358=) c.1029T>C (p.Ser343=) c.1014T>C (p.Ser338=) c.828T>C (p.Ser276=) n.942T>C | |
| 5 | g.143295464A>T | CA446962016 | NR3C1 | c.2019T>A (p.Ser673=) c.1926T>A (p.Ser642=) c.2022T>A (p.Ser674=) c.1941T>A (p.Ser647=) c.1764T>A (p.Ser588=) c.1752T>A (p.Ser584=) c.1728T>A (p.Ser576=) c.1074T>A (p.Ser358=) c.1029T>A (p.Ser343=) c.1014T>A (p.Ser338=) c.828T>A (p.Ser276=) n.942T>A | |
| 5 | g.143295465G>A | CA361869143 | NR3C1 | c.2018C>T (p.Ser673Phe) c.1925C>T (p.Ser642Phe) c.2021C>T (p.Ser674Phe) c.1940C>T (p.Ser647Phe) c.1763C>T (p.Ser588Phe) c.1751C>T (p.Ser584Phe) c.1727C>T (p.Ser576Phe) c.1073C>T (p.Ser358Phe) c.1028C>T (p.Ser343Phe) c.1013C>T (p.Ser338Phe) c.827C>T (p.Ser276Phe) n.941C>T | gnomAD v4 |
| 5 | g.143295465G>C | CA361869144 | NR3C1 | c.2018C>G (p.Ser673Cys) c.1925C>G (p.Ser642Cys) c.2021C>G (p.Ser674Cys) c.1940C>G (p.Ser647Cys) c.1763C>G (p.Ser588Cys) c.1751C>G (p.Ser584Cys) c.1727C>G (p.Ser576Cys) c.1073C>G (p.Ser358Cys) c.1028C>G (p.Ser343Cys) c.1013C>G (p.Ser338Cys) c.827C>G (p.Ser276Cys) n.941C>G | |
| 5 | g.143295465G>T | CA361869145 | NR3C1 | c.2018C>A (p.Ser673Tyr) c.1925C>A (p.Ser642Tyr) c.2021C>A (p.Ser674Tyr) c.1940C>A (p.Ser647Tyr) c.1763C>A (p.Ser588Tyr) c.1751C>A (p.Ser584Tyr) c.1727C>A (p.Ser576Tyr) c.1073C>A (p.Ser358Tyr) c.1028C>A (p.Ser343Tyr) c.1013C>A (p.Ser338Tyr) c.827C>A (p.Ser276Tyr) n.941C>A | |
| 5 | g.143295465_143295469del | CA2497120317 | NR3C1 | c.2014_2018del (p.Leu672PhefsTer4) c.1921_1925del (p.Leu641PhefsTer4) c.2017_2021del (p.Leu673PhefsTer4) c.1936_1940del (p.Leu646PhefsTer4) c.1759_1763del (p.Leu587PhefsTer4) c.1747_1751del (p.Leu583PhefsTer4) c.1723_1727del (p.Leu575PhefsTer4) c.1069_1073del (p.Leu357PhefsTer4) c.1024_1028del (p.Leu342PhefsTer4) c.1009_1013del (p.Leu337PhefsTer4) c.2014_2018del (p.Leu672PhefsTer17) c.823_827del (p.Leu275PhefsTer4) n.937_941del | dbSNP |
| 5 | g.143295466A>C | CA361869146 | NR3C1 | c.2017T>G (p.Ser673Ala) c.1924T>G (p.Ser642Ala) c.2020T>G (p.Ser674Ala) c.1939T>G (p.Ser647Ala) c.1762T>G (p.Ser588Ala) c.1750T>G (p.Ser584Ala) c.1726T>G (p.Ser576Ala) c.1072T>G (p.Ser358Ala) c.1027T>G (p.Ser343Ala) c.1012T>G (p.Ser338Ala) c.826T>G (p.Ser276Ala) n.940T>G | |
| 5 | g.143295466A>G | CA361869147 | NR3C1 | c.2017T>C (p.Ser673Pro) c.1924T>C (p.Ser642Pro) c.2020T>C (p.Ser674Pro) c.1939T>C (p.Ser647Pro) c.1762T>C (p.Ser588Pro) c.1750T>C (p.Ser584Pro) c.1726T>C (p.Ser576Pro) c.1072T>C (p.Ser358Pro) c.1027T>C (p.Ser343Pro) c.1012T>C (p.Ser338Pro) c.826T>C (p.Ser276Pro) n.940T>C | |
| 5 | g.143295466A>T | CA361869148 | NR3C1 | c.2017T>A (p.Ser673Thr) c.1924T>A (p.Ser642Thr) c.2020T>A (p.Ser674Thr) c.1939T>A (p.Ser647Thr) c.1762T>A (p.Ser588Thr) c.1750T>A (p.Ser584Thr) c.1726T>A (p.Ser576Thr) c.1072T>A (p.Ser358Thr) c.1027T>A (p.Ser343Thr) c.1012T>A (p.Ser338Thr) c.826T>A (p.Ser276Thr) n.940T>A | |
| 5 | g.143295467G>A | CA446962017 | NR3C1 | c.2016C>T (p.Leu672=) c.1923C>T (p.Leu641=) c.2019C>T (p.Leu673=) c.1938C>T (p.Leu646=) c.1761C>T (p.Leu587=) c.1749C>T (p.Leu583=) c.1725C>T (p.Leu575=) c.1071C>T (p.Leu357=) c.1026C>T (p.Leu342=) c.1011C>T (p.Leu337=) c.825C>T (p.Leu275=) n.939C>T | |
| 5 | g.143295467G>C | CA446962019 | NR3C1 | c.2016C>G (p.Leu672=) c.1923C>G (p.Leu641=) c.2019C>G (p.Leu673=) c.1938C>G (p.Leu646=) c.1761C>G (p.Leu587=) c.1749C>G (p.Leu583=) c.1725C>G (p.Leu575=) c.1071C>G (p.Leu357=) c.1026C>G (p.Leu342=) c.1011C>G (p.Leu337=) c.825C>G (p.Leu275=) n.939C>G | dbSNP gnomAD v4 |
| 5 | g.143295467G>T | CA446962018 | NR3C1 | c.2016C>A (p.Leu672=) c.1923C>A (p.Leu641=) c.2019C>A (p.Leu673=) c.1938C>A (p.Leu646=) c.1761C>A (p.Leu587=) c.1749C>A (p.Leu583=) c.1725C>A (p.Leu575=) c.1071C>A (p.Leu357=) c.1026C>A (p.Leu342=) c.1011C>A (p.Leu337=) c.825C>A (p.Leu275=) n.939C>A | |
| 5 | g.143295468A>C | CA361869149 | NR3C1 | c.2015T>G (p.Leu672Arg) c.1922T>G (p.Leu641Arg) c.2018T>G (p.Leu673Arg) c.1937T>G (p.Leu646Arg) c.1760T>G (p.Leu587Arg) c.1748T>G (p.Leu583Arg) c.1724T>G (p.Leu575Arg) c.1070T>G (p.Leu357Arg) c.1025T>G (p.Leu342Arg) c.1010T>G (p.Leu337Arg) c.824T>G (p.Leu275Arg) n.938T>G | |
| 5 | g.143295468A>G | CA361869150 | NR3C1 | c.2015T>C (p.Leu672Pro) c.1922T>C (p.Leu641Pro) c.2018T>C (p.Leu673Pro) c.1937T>C (p.Leu646Pro) c.1760T>C (p.Leu587Pro) c.1748T>C (p.Leu583Pro) c.1724T>C (p.Leu575Pro) c.1070T>C (p.Leu357Pro) c.1025T>C (p.Leu342Pro) c.1010T>C (p.Leu337Pro) c.824T>C (p.Leu275Pro) n.938T>C | |
| 5 | g.143295468A>T | CA361869151 | NR3C1 | c.2015T>A (p.Leu672His) c.1922T>A (p.Leu641His) c.2018T>A (p.Leu673His) c.1937T>A (p.Leu646His) c.1760T>A (p.Leu587His) c.1748T>A (p.Leu583His) c.1724T>A (p.Leu575His) c.1070T>A (p.Leu357His) c.1025T>A (p.Leu342His) c.1010T>A (p.Leu337His) c.824T>A (p.Leu275His) n.938T>A | |
| 5 | g.143295469G>A | CA361869154 | NR3C1 | c.2014C>T (p.Leu672Phe) c.1921C>T (p.Leu641Phe) c.2017C>T (p.Leu673Phe) c.1936C>T (p.Leu646Phe) c.1759C>T (p.Leu587Phe) c.1747C>T (p.Leu583Phe) c.1723C>T (p.Leu575Phe) c.1069C>T (p.Leu357Phe) c.1024C>T (p.Leu342Phe) c.1009C>T (p.Leu337Phe) c.823C>T (p.Leu275Phe) n.937C>T | |
| 5 | g.143295469G>C | CA361869152 | NR3C1 | c.2014C>G (p.Leu672Val) c.1921C>G (p.Leu641Val) c.2017C>G (p.Leu673Val) c.1936C>G (p.Leu646Val) c.1759C>G (p.Leu587Val) c.1747C>G (p.Leu583Val) c.1723C>G (p.Leu575Val) c.1069C>G (p.Leu357Val) c.1024C>G (p.Leu342Val) c.1009C>G (p.Leu337Val) c.823C>G (p.Leu275Val) n.937C>G | |
| 5 | g.143295469G>T | CA361869153 | NR3C1 | c.2014C>A (p.Leu672Ile) c.1921C>A (p.Leu641Ile) c.2017C>A (p.Leu673Ile) c.1936C>A (p.Leu646Ile) c.1759C>A (p.Leu587Ile) c.1747C>A (p.Leu583Ile) c.1723C>A (p.Leu575Ile) c.1069C>A (p.Leu357Ile) c.1024C>A (p.Leu342Ile) c.1009C>A (p.Leu337Ile) c.823C>A (p.Leu275Ile) n.937C>A | |
| 5 | g.143295470A>C | CA446962020 | NR3C1 | c.2013T>G (p.Leu671=) c.1920T>G (p.Leu640=) c.2016T>G (p.Leu672=) c.1935T>G (p.Leu645=) c.1758T>G (p.Leu586=) c.1746T>G (p.Leu582=) c.1722T>G (p.Leu574=) c.1068T>G (p.Leu356=) c.1023T>G (p.Leu341=) c.1008T>G (p.Leu336=) c.822T>G (p.Leu274=) n.936T>G | |
| 5 | g.143295470A>G | CA446962021 | NR3C1 | c.2013T>C (p.Leu671=) c.1920T>C (p.Leu640=) c.2016T>C (p.Leu672=) c.1935T>C (p.Leu645=) c.1758T>C (p.Leu586=) c.1746T>C (p.Leu582=) c.1722T>C (p.Leu574=) c.1068T>C (p.Leu356=) c.1023T>C (p.Leu341=) c.1008T>C (p.Leu336=) c.822T>C (p.Leu274=) n.936T>C | |
| 5 | g.143295470A>T | CA446962022 | NR3C1 | c.2013T>A (p.Leu671=) c.1920T>A (p.Leu640=) c.2016T>A (p.Leu672=) c.1935T>A (p.Leu645=) c.1758T>A (p.Leu586=) c.1746T>A (p.Leu582=) c.1722T>A (p.Leu574=) c.1068T>A (p.Leu356=) c.1023T>A (p.Leu341=) c.1008T>A (p.Leu336=) c.822T>A (p.Leu274=) n.936T>A | |
| 5 | g.143295471A>C | CA361869155 | NR3C1 | c.2012T>G (p.Leu671Arg) c.1919T>G (p.Leu640Arg) c.2015T>G (p.Leu672Arg) c.1934T>G (p.Leu645Arg) c.1757T>G (p.Leu586Arg) c.1745T>G (p.Leu582Arg) c.1721T>G (p.Leu574Arg) c.1067T>G (p.Leu356Arg) c.1022T>G (p.Leu341Arg) c.1007T>G (p.Leu336Arg) c.821T>G (p.Leu274Arg) n.935T>G | |
| 5 | g.143295471A>G | CA361869157 | NR3C1 | c.2012T>C (p.Leu671Pro) c.1919T>C (p.Leu640Pro) c.2015T>C (p.Leu672Pro) c.1934T>C (p.Leu645Pro) c.1757T>C (p.Leu586Pro) c.1745T>C (p.Leu582Pro) c.1721T>C (p.Leu574Pro) c.1067T>C (p.Leu356Pro) c.1022T>C (p.Leu341Pro) c.1007T>C (p.Leu336Pro) c.821T>C (p.Leu274Pro) n.935T>C | |
| 5 | g.143295471A>T | CA361869156 | NR3C1 | c.2012T>A (p.Leu671His) c.1919T>A (p.Leu640His) c.2015T>A (p.Leu672His) c.1934T>A (p.Leu645His) c.1757T>A (p.Leu586His) c.1745T>A (p.Leu582His) c.1721T>A (p.Leu574His) c.1067T>A (p.Leu356His) c.1022T>A (p.Leu341His) c.1007T>A (p.Leu336His) c.821T>A (p.Leu274His) n.935T>A | |
| 5 | g.143295472G>A | CA361869158 | NR3C1 | c.2011C>T (p.Leu671Phe) c.1918C>T (p.Leu640Phe) c.2014C>T (p.Leu672Phe) c.1933C>T (p.Leu645Phe) c.1756C>T (p.Leu586Phe) c.1744C>T (p.Leu582Phe) c.1720C>T (p.Leu574Phe) c.1066C>T (p.Leu356Phe) c.1021C>T (p.Leu341Phe) c.1006C>T (p.Leu336Phe) c.820C>T (p.Leu274Phe) n.934C>T | |
| 5 | g.143295472G>C | CA361869160 | NR3C1 | c.2011C>G (p.Leu671Val) c.1918C>G (p.Leu640Val) c.2014C>G (p.Leu672Val) c.1933C>G (p.Leu645Val) c.1756C>G (p.Leu586Val) c.1744C>G (p.Leu582Val) c.1720C>G (p.Leu574Val) c.1066C>G (p.Leu356Val) c.1021C>G (p.Leu341Val) c.1006C>G (p.Leu336Val) c.820C>G (p.Leu274Val) n.934C>G | dbSNP |
| 5 | g.143295472G>T | CA361869159 | NR3C1 | c.2011C>A (p.Leu671Ile) c.1918C>A (p.Leu640Ile) c.2014C>A (p.Leu672Ile) c.1933C>A (p.Leu645Ile) c.1756C>A (p.Leu586Ile) c.1744C>A (p.Leu582Ile) c.1720C>A (p.Leu574Ile) c.1066C>A (p.Leu356Ile) c.1021C>A (p.Leu341Ile) c.1006C>A (p.Leu336Ile) c.820C>A (p.Leu274Ile) n.934C>A | |
| 5 | g.143295473C>A | CA446962023 | NR3C1 | c.2010G>T (p.Leu670=) c.1917G>T (p.Leu639=) c.2013G>T (p.Leu671=) c.1932G>T (p.Leu644=) c.1755G>T (p.Leu585=) c.1743G>T (p.Leu581=) c.1719G>T (p.Leu573=) c.1065G>T (p.Leu355=) c.1020G>T (p.Leu340=) c.1005G>T (p.Leu335=) c.819G>T (p.Leu273=) n.933G>T | |
| 5 | g.143295473C>G | CA446962024 | NR3C1 | c.2010G>C (p.Leu670=) c.1917G>C (p.Leu639=) c.2013G>C (p.Leu671=) c.1932G>C (p.Leu644=) c.1755G>C (p.Leu585=) c.1743G>C (p.Leu581=) c.1719G>C (p.Leu573=) c.1065G>C (p.Leu355=) c.1020G>C (p.Leu340=) c.1005G>C (p.Leu335=) c.819G>C (p.Leu273=) n.933G>C | |
| 5 | g.143295473C>T | CA446962025 | NR3C1 | c.2010G>A (p.Leu670=) c.1917G>A (p.Leu639=) c.2013G>A (p.Leu671=) c.1932G>A (p.Leu644=) c.1755G>A (p.Leu585=) c.1743G>A (p.Leu581=) c.1719G>A (p.Leu573=) c.1065G>A (p.Leu355=) c.1020G>A (p.Leu340=) c.1005G>A (p.Leu335=) c.819G>A (p.Leu273=) n.933G>A | |
| 5 | g.143295474A>C | CA361869161 | NR3C1 | c.2009T>G (p.Leu670Arg) c.1916T>G (p.Leu639Arg) c.2012T>G (p.Leu671Arg) c.1931T>G (p.Leu644Arg) c.1754T>G (p.Leu585Arg) c.1742T>G (p.Leu581Arg) c.1718T>G (p.Leu573Arg) c.1064T>G (p.Leu355Arg) c.1019T>G (p.Leu340Arg) c.1004T>G (p.Leu335Arg) c.818T>G (p.Leu273Arg) n.932T>G | |
| 5 | g.143295474A>G | CA361869163 | NR3C1 | c.2009T>C (p.Leu670Pro) c.1916T>C (p.Leu639Pro) c.2012T>C (p.Leu671Pro) c.1931T>C (p.Leu644Pro) c.1754T>C (p.Leu585Pro) c.1742T>C (p.Leu581Pro) c.1718T>C (p.Leu573Pro) c.1064T>C (p.Leu355Pro) c.1019T>C (p.Leu340Pro) c.1004T>C (p.Leu335Pro) c.818T>C (p.Leu273Pro) n.932T>C | |
| 5 | g.143295474A>T | CA361869162 | NR3C1 | c.2009T>A (p.Leu670Gln) c.1916T>A (p.Leu639Gln) c.2012T>A (p.Leu671Gln) c.1931T>A (p.Leu644Gln) c.1754T>A (p.Leu585Gln) c.1742T>A (p.Leu581Gln) c.1718T>A (p.Leu573Gln) c.1064T>A (p.Leu355Gln) c.1019T>A (p.Leu340Gln) c.1004T>A (p.Leu335Gln) c.818T>A (p.Leu273Gln) n.932T>A | |
| 5 | g.143295474_143295480del | CA2497120318 | NR3C1 | c.2003_2009del (p.Thr668SerfsTer11) c.1910_1916del (p.Thr637SerfsTer11) c.2006_2012del (p.Thr669SerfsTer11) c.1925_1931del (p.Thr642SerfsTer11) c.1748_1754del (p.Thr583SerfsTer11) c.1736_1742del (p.Thr579SerfsTer11) c.1712_1718del (p.Thr571SerfsTer11) c.1058_1064del (p.Thr353SerfsTer11) c.1013_1019del (p.Thr338SerfsTer11) c.998_1004del (p.Thr333SerfsTer11) c.2003_2009del (p.Thr668SerfsTer18) c.812_818del (p.Thr271SerfsTer11) n.926_932del | dbSNP |
| 5 | g.143295475G>A | CA446962026 | NR3C1 | c.2008C>T (p.Leu670=) c.1915C>T (p.Leu639=) c.2011C>T (p.Leu671=) c.1930C>T (p.Leu644=) c.1753C>T (p.Leu585=) c.1741C>T (p.Leu581=) c.1717C>T (p.Leu573=) c.1063C>T (p.Leu355=) c.1018C>T (p.Leu340=) c.1003C>T (p.Leu335=) c.817C>T (p.Leu273=) n.931C>T | |
| 5 | g.143295475G>C | CA361869164 | NR3C1 | c.2008C>G (p.Leu670Val) c.1915C>G (p.Leu639Val) c.2011C>G (p.Leu671Val) c.1930C>G (p.Leu644Val) c.1753C>G (p.Leu585Val) c.1741C>G (p.Leu581Val) c.1717C>G (p.Leu573Val) c.1063C>G (p.Leu355Val) c.1018C>G (p.Leu340Val) c.1003C>G (p.Leu335Val) c.817C>G (p.Leu273Val) n.931C>G | |
| 5 | g.143295475G>T | CA361869165 | NR3C1 | c.2008C>A (p.Leu670Met) c.1915C>A (p.Leu639Met) c.2011C>A (p.Leu671Met) c.1930C>A (p.Leu644Met) c.1753C>A (p.Leu585Met) c.1741C>A (p.Leu581Met) c.1717C>A (p.Leu573Met) c.1063C>A (p.Leu355Met) c.1018C>A (p.Leu340Met) c.1003C>A (p.Leu335Met) c.817C>A (p.Leu273Met) n.931C>A | |
| 5 | g.143295475_143295484dup | CA2675766557 | NR3C1 | c.1999_2008dup (p.Leu670GlnfsTer11) c.1906_1915dup (p.Leu639GlnfsTer11) c.2002_2011dup (p.Leu671GlnfsTer11) c.1921_1930dup (p.Leu644GlnfsTer11) c.1744_1753dup (p.Leu585GlnfsTer11) c.1732_1741dup (p.Leu581GlnfsTer11) c.1708_1717dup (p.Leu573GlnfsTer11) c.1054_1063dup (p.Leu355GlnfsTer11) c.1009_1018dup (p.Leu340GlnfsTer11) c.994_1003dup (p.Leu335GlnfsTer11) c.1999_2008dup (p.Leu670GlnfsTer24) c.808_817dup (p.Leu273GlnfsTer11) n.922_931dup | gnomAD v4 |
| 5 | g.143295476T>A | CA361869166 | NR3C1 | c.2007A>T (p.Leu669Phe) c.1914A>T (p.Leu638Phe) c.2010A>T (p.Leu670Phe) c.1929A>T (p.Leu643Phe) c.1752A>T (p.Leu584Phe) c.1740A>T (p.Leu580Phe) c.1716A>T (p.Leu572Phe) c.1062A>T (p.Leu354Phe) c.1017A>T (p.Leu339Phe) c.1002A>T (p.Leu334Phe) c.816A>T (p.Leu272Phe) n.930A>T | |
| 5 | g.143295476T>C | CA446962027 | NR3C1 | c.2007A>G (p.Leu669=) c.1914A>G (p.Leu638=) c.2010A>G (p.Leu670=) c.1929A>G (p.Leu643=) c.1752A>G (p.Leu584=) c.1740A>G (p.Leu580=) c.1716A>G (p.Leu572=) c.1062A>G (p.Leu354=) c.1017A>G (p.Leu339=) c.1002A>G (p.Leu334=) c.816A>G (p.Leu272=) n.930A>G |