| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.20155453C>A | CA412511905 | RPS6KA3 | c.2168G>T (p.Arg723Leu) c.2081G>T (p.Arg694Leu) c.2084G>T (p.Arg695Leu) c.1786G>T (n.1786G>T) c.*1389G>T (n.*1389G>T) n.835G>T c.2165G>T (p.Arg722Leu) c.2078G>T (p.Arg693Leu) c.2186G>T (p.Arg729Leu) c.2183G>T (p.Arg728Leu) c.2102G>T (p.Arg701Leu) c.2099G>T (p.Arg700Leu) | |
| X | g.20155453C= | CA2418502962 | RPS6KA3 | c.2168G= (p.Arg723=) c.2081G= (p.Arg694=) c.2084G= (p.Arg695=) c.1786G= (n.1786G=) c.*1389G= (n.*1389G=) n.835G= c.2165G= (p.Arg722=) c.2078G= (p.Arg693=) c.2186G= (p.Arg729=) c.2183G= (p.Arg728=) c.2102G= (p.Arg701=) c.2099G= (p.Arg700=) | |
| X | g.20155453C>G | CA412511907 | RPS6KA3 | c.2168G>C (p.Arg723Pro) c.2081G>C (p.Arg694Pro) c.2084G>C (p.Arg695Pro) c.1786G>C (n.1786G>C) c.*1389G>C (n.*1389G>C) n.835G>C c.2165G>C (p.Arg722Pro) c.2078G>C (p.Arg693Pro) c.2186G>C (p.Arg729Pro) c.2183G>C (p.Arg728Pro) c.2102G>C (p.Arg701Pro) c.2099G>C (p.Arg700Pro) | |
| X | g.20155453C>T | CA207224 | RPS6KA3 | c.2168G>A (p.Arg723His) c.2081G>A (p.Arg694His) c.2084G>A (p.Arg695His) c.1786G>A (n.1786G>A) c.*1389G>A (n.*1389G>A) n.835G>A c.2165G>A (p.Arg722His) c.2078G>A (p.Arg693His) c.2186G>A (p.Arg729His) c.2183G>A (p.Arg728His) c.2102G>A (p.Arg701His) c.2099G>A (p.Arg700His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155454G>A | CA327473501 | RPS6KA3 | c.2167C>T (p.Arg723Cys) c.2080C>T (p.Arg694Cys) c.2083C>T (p.Arg695Cys) c.1785C>T (n.1785C>T) c.*1388C>T (n.*1388C>T) n.834C>T c.2164C>T (p.Arg722Cys) c.2077C>T (p.Arg693Cys) c.2185C>T (p.Arg729Cys) c.2182C>T (p.Arg728Cys) c.2101C>T (p.Arg701Cys) c.2098C>T (p.Arg700Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.20155454G>C | CA412511912 | RPS6KA3 | c.2167C>G (p.Arg723Gly) c.2080C>G (p.Arg694Gly) c.2083C>G (p.Arg695Gly) c.1785C>G (n.1785C>G) c.*1388C>G (n.*1388C>G) n.834C>G c.2164C>G (p.Arg722Gly) c.2077C>G (p.Arg693Gly) c.2185C>G (p.Arg729Gly) c.2182C>G (p.Arg728Gly) c.2101C>G (p.Arg701Gly) c.2098C>G (p.Arg700Gly) | |
| X | g.20155454G= | CA2418502963 | RPS6KA3 | c.2167C= (p.Arg723=) c.2080C= (p.Arg694=) c.2083C= (p.Arg695=) c.1785C= (n.1785C=) c.*1388C= (n.*1388C=) n.834C= c.2164C= (p.Arg722=) c.2077C= (p.Arg693=) c.2185C= (p.Arg729=) c.2182C= (p.Arg728=) c.2101C= (p.Arg701=) c.2098C= (p.Arg700=) | |
| X | g.20155454G>T | CA412511914 | RPS6KA3 | c.2167C>A (p.Arg723Ser) c.2080C>A (p.Arg694Ser) c.2083C>A (p.Arg695Ser) c.1785C>A (n.1785C>A) c.*1388C>A (n.*1388C>A) n.834C>A c.2164C>A (p.Arg722Ser) c.2077C>A (p.Arg693Ser) c.2185C>A (p.Arg729Ser) c.2182C>A (p.Arg728Ser) c.2101C>A (p.Arg701Ser) c.2098C>A (p.Arg700Ser) | |
| X | g.20155455G>A | CA515613306 | RPS6KA3 | c.2166C>T (p.Gly722=) c.2079C>T (p.Gly693=) c.2082C>T (p.Gly694=) c.1784C>T (n.1784C>T) c.*1387C>T (n.*1387C>T) n.833C>T c.2163C>T (p.Gly721=) c.2076C>T (p.Gly692=) c.2184C>T (p.Gly728=) c.2181C>T (p.Gly727=) c.2100C>T (p.Gly700=) c.2097C>T (p.Gly699=) | |
| X | g.20155455G>C | CA515613307 | RPS6KA3 | c.2166C>G (p.Gly722=) c.2079C>G (p.Gly693=) c.2082C>G (p.Gly694=) c.1784C>G (n.1784C>G) c.*1387C>G (n.*1387C>G) n.833C>G c.2163C>G (p.Gly721=) c.2076C>G (p.Gly692=) c.2184C>G (p.Gly728=) c.2181C>G (p.Gly727=) c.2100C>G (p.Gly700=) c.2097C>G (p.Gly699=) | |
| X | g.20155455G>T | CA515613308 | RPS6KA3 | c.2166C>A (p.Gly722=) c.2079C>A (p.Gly693=) c.2082C>A (p.Gly694=) c.1784C>A (n.1784C>A) c.*1387C>A (n.*1387C>A) n.833C>A c.2163C>A (p.Gly721=) c.2076C>A (p.Gly692=) c.2184C>A (p.Gly728=) c.2181C>A (p.Gly727=) c.2100C>A (p.Gly700=) c.2097C>A (p.Gly699=) | |
| X | g.20155456C>A | CA412511917 | RPS6KA3 | c.2165G>T (p.Gly722Val) c.2078G>T (p.Gly693Val) c.2081G>T (p.Gly694Val) c.1783G>T (n.1783G>T) c.*1386G>T (n.*1386G>T) n.832G>T c.2162G>T (p.Gly721Val) c.2075G>T (p.Gly692Val) c.2183G>T (p.Gly728Val) c.2180G>T (p.Gly727Val) c.2099G>T (p.Gly700Val) c.2096G>T (p.Gly699Val) | |
| X | g.20155456C>G | CA412511919 | RPS6KA3 | c.2165G>C (p.Gly722Ala) c.2078G>C (p.Gly693Ala) c.2081G>C (p.Gly694Ala) c.1783G>C (n.1783G>C) c.*1386G>C (n.*1386G>C) n.832G>C c.2162G>C (p.Gly721Ala) c.2075G>C (p.Gly692Ala) c.2183G>C (p.Gly728Ala) c.2180G>C (p.Gly727Ala) c.2099G>C (p.Gly700Ala) c.2096G>C (p.Gly699Ala) | |
| X | g.20155456C>T | CA412511921 | RPS6KA3 | c.2165G>A (p.Gly722Asp) c.2078G>A (p.Gly693Asp) c.2081G>A (p.Gly694Asp) c.1783G>A (n.1783G>A) c.*1386G>A (n.*1386G>A) n.832G>A c.2162G>A (p.Gly721Asp) c.2075G>A (p.Gly692Asp) c.2183G>A (p.Gly728Asp) c.2180G>A (p.Gly727Asp) c.2099G>A (p.Gly700Asp) c.2096G>A (p.Gly699Asp) | |
| X | g.20155457C>A | CA412511923 | RPS6KA3 | c.2164G>T (p.Gly722Cys) c.2077G>T (p.Gly693Cys) c.2080G>T (p.Gly694Cys) c.1782G>T (n.1782G>T) c.*1385G>T (n.*1385G>T) n.831G>T c.2161G>T (p.Gly721Cys) c.2074G>T (p.Gly692Cys) c.2182G>T (p.Gly728Cys) c.2179G>T (p.Gly727Cys) c.2098G>T (p.Gly700Cys) c.2095G>T (p.Gly699Cys) | |
| X | g.20155457C>G | CA412511927 | RPS6KA3 | c.2164G>C (p.Gly722Arg) c.2077G>C (p.Gly693Arg) c.2080G>C (p.Gly694Arg) c.1782G>C (n.1782G>C) c.*1385G>C (n.*1385G>C) n.831G>C c.2161G>C (p.Gly721Arg) c.2074G>C (p.Gly692Arg) c.2182G>C (p.Gly728Arg) c.2179G>C (p.Gly727Arg) c.2098G>C (p.Gly700Arg) c.2095G>C (p.Gly699Arg) | |
| X | g.20155457C>T | CA412511925 | RPS6KA3 | c.2164G>A (p.Gly722Ser) c.2077G>A (p.Gly693Ser) c.2080G>A (p.Gly694Ser) c.1782G>A (n.1782G>A) c.*1385G>A (n.*1385G>A) n.831G>A c.2161G>A (p.Gly721Ser) c.2074G>A (p.Gly692Ser) c.2182G>A (p.Gly728Ser) c.2179G>A (p.Gly727Ser) c.2098G>A (p.Gly700Ser) c.2095G>A (p.Gly699Ser) | |
| X | g.20155458T>A | CA515613309 | RPS6KA3 | c.2163A>T (p.Val721=) c.2076A>T (p.Val692=) c.2079A>T (p.Val693=) c.1781A>T (n.1781A>T) c.*1384A>T (n.*1384A>T) n.830A>T c.2160A>T (p.Val720=) c.2073A>T (p.Val691=) c.2181A>T (p.Val727=) c.2178A>T (p.Val726=) c.2097A>T (p.Val699=) c.2094A>T (p.Val698=) | |
| X | g.20155458T>C | CA515613310 | RPS6KA3 | c.2163A>G (p.Val721=) c.2076A>G (p.Val692=) c.2079A>G (p.Val693=) c.1781A>G (n.1781A>G) c.*1384A>G (n.*1384A>G) n.830A>G c.2160A>G (p.Val720=) c.2073A>G (p.Val691=) c.2181A>G (p.Val727=) c.2178A>G (p.Val726=) c.2097A>G (p.Val699=) c.2094A>G (p.Val698=) | |
| X | g.20155458T>G | CA515613311 | RPS6KA3 | c.2163A>C (p.Val721=) c.2076A>C (p.Val692=) c.2079A>C (p.Val693=) c.1781A>C (n.1781A>C) c.*1384A>C (n.*1384A>C) n.830A>C c.2160A>C (p.Val720=) c.2073A>C (p.Val691=) c.2181A>C (p.Val727=) c.2178A>C (p.Val726=) c.2097A>C (p.Val699=) c.2094A>C (p.Val698=) | |
| X | g.20155458T= | CA2418502964 | RPS6KA3 | c.2163A= (p.Val721=) c.2076A= (p.Val692=) c.2079A= (p.Val693=) c.1781A= (n.1781A=) c.*1384A= (n.*1384A=) n.830A= c.2160A= (p.Val720=) c.2073A= (p.Val691=) c.2181A= (p.Val727=) c.2178A= (p.Val726=) c.2097A= (p.Val699=) c.2094A= (p.Val698=) | |
| X | g.20155459A>C | CA412511929 | RPS6KA3 | c.2162T>G (p.Val721Gly) c.2075T>G (p.Val692Gly) c.2078T>G (p.Val693Gly) c.1780T>G (n.1780T>G) c.*1383T>G (n.*1383T>G) n.829T>G c.2159T>G (p.Val720Gly) c.2072T>G (p.Val691Gly) c.2180T>G (p.Val727Gly) c.2177T>G (p.Val726Gly) c.2096T>G (p.Val699Gly) c.2093T>G (p.Val698Gly) | |
| X | g.20155459A>G | CA412511931 | RPS6KA3 | c.2162T>C (p.Val721Ala) c.2075T>C (p.Val692Ala) c.2078T>C (p.Val693Ala) c.1780T>C (n.1780T>C) c.*1383T>C (n.*1383T>C) n.829T>C c.2159T>C (p.Val720Ala) c.2072T>C (p.Val691Ala) c.2180T>C (p.Val727Ala) c.2177T>C (p.Val726Ala) c.2096T>C (p.Val699Ala) c.2093T>C (p.Val698Ala) | |
| X | g.20155459A>T | CA412511933 | RPS6KA3 | c.2162T>A (p.Val721Glu) c.2075T>A (p.Val692Glu) c.2078T>A (p.Val693Glu) c.1780T>A (n.1780T>A) c.*1383T>A (n.*1383T>A) n.829T>A c.2159T>A (p.Val720Glu) c.2072T>A (p.Val691Glu) c.2180T>A (p.Val727Glu) c.2177T>A (p.Val726Glu) c.2096T>A (p.Val699Glu) c.2093T>A (p.Val698Glu) | |
| X | g.20155459dup | CA2418502965 | RPS6KA3 | c.2162dup (p.Gly722ArgfsTer12) c.2075dup (p.Gly693ArgfsTer12) c.2078dup (p.Gly694ArgfsTer12) c.1780dup (n.1780dup) c.*1383dup (n.*1383dup) n.829dup c.2159dup (p.Gly721ArgfsTer12) c.2072dup (p.Gly692ArgfsTer12) c.2180dup (p.Gly728ArgfsTer?) c.2177dup (p.Gly727ArgfsTer12) c.2096dup (p.Gly700ArgfsTer12) c.2093dup (p.Gly699ArgfsTer12) | dbSNP |
| X | g.20155460C>A | CA412511934 | RPS6KA3 | c.2161G>T (p.Val721Leu) c.2074G>T (p.Val692Leu) c.2077G>T (p.Val693Leu) c.1779G>T (n.1779G>T) c.*1382G>T (n.*1382G>T) n.828G>T c.2158G>T (p.Val720Leu) c.2071G>T (p.Val691Leu) c.2179G>T (p.Val727Leu) c.2176G>T (p.Val726Leu) c.2095G>T (p.Val699Leu) c.2092G>T (p.Val698Leu) | |
| X | g.20155460C>G | CA412511936 | RPS6KA3 | c.2161G>C (p.Val721Leu) c.2074G>C (p.Val692Leu) c.2077G>C (p.Val693Leu) c.1779G>C (n.1779G>C) c.*1382G>C (n.*1382G>C) n.828G>C c.2158G>C (p.Val720Leu) c.2071G>C (p.Val691Leu) c.2179G>C (p.Val727Leu) c.2176G>C (p.Val726Leu) c.2095G>C (p.Val699Leu) c.2092G>C (p.Val698Leu) | |
| X | g.20155460C>T | CA412511938 | RPS6KA3 | c.2161G>A (p.Val721Ile) c.2074G>A (p.Val692Ile) c.2077G>A (p.Val693Ile) c.1779G>A (n.1779G>A) c.*1382G>A (n.*1382G>A) n.828G>A c.2158G>A (p.Val720Ile) c.2071G>A (p.Val691Ile) c.2179G>A (p.Val727Ile) c.2176G>A (p.Val726Ile) c.2095G>A (p.Val699Ile) c.2092G>A (p.Val698Ile) | |
| X | g.20155461T>A | CA515613312 | RPS6KA3 | c.2160A>T (p.Pro720=) c.2073A>T (p.Pro691=) c.2076A>T (p.Pro692=) c.1778A>T (n.1778A>T) c.*1381A>T (n.*1381A>T) n.827A>T c.2157A>T (p.Pro719=) c.2070A>T (p.Pro690=) c.2178A>T (p.Pro726=) c.2175A>T (p.Pro725=) c.2094A>T (p.Pro698=) c.2091A>T (p.Pro697=) | |
| X | g.20155461T>C | CA515613313 | RPS6KA3 | c.2160A>G (p.Pro720=) c.2073A>G (p.Pro691=) c.2076A>G (p.Pro692=) c.1778A>G (n.1778A>G) c.*1381A>G (n.*1381A>G) n.827A>G c.2157A>G (p.Pro719=) c.2070A>G (p.Pro690=) c.2178A>G (p.Pro726=) c.2175A>G (p.Pro725=) c.2094A>G (p.Pro698=) c.2091A>G (p.Pro697=) | |
| X | g.20155461T>G | CA515613314 | RPS6KA3 | c.2160A>C (p.Pro720=) c.2073A>C (p.Pro691=) c.2076A>C (p.Pro692=) c.1778A>C (n.1778A>C) c.*1381A>C (n.*1381A>C) n.827A>C c.2157A>C (p.Pro719=) c.2070A>C (p.Pro690=) c.2178A>C (p.Pro726=) c.2175A>C (p.Pro725=) c.2094A>C (p.Pro698=) c.2091A>C (p.Pro697=) | |
| X | g.20155462G>A | CA412511941 | RPS6KA3 | c.2159C>T (p.Pro720Leu) c.2072C>T (p.Pro691Leu) c.2075C>T (p.Pro692Leu) c.1777C>T (n.1777C>T) c.*1380C>T (n.*1380C>T) n.826C>T c.2156C>T (p.Pro719Leu) c.2069C>T (p.Pro690Leu) c.2177C>T (p.Pro726Leu) c.2174C>T (p.Pro725Leu) c.2093C>T (p.Pro698Leu) c.2090C>T (p.Pro697Leu) | |
| X | g.20155462G>C | CA412511943 | RPS6KA3 | c.2159C>G (p.Pro720Arg) c.2072C>G (p.Pro691Arg) c.2075C>G (p.Pro692Arg) c.1777C>G (n.1777C>G) c.*1380C>G (n.*1380C>G) n.826C>G c.2156C>G (p.Pro719Arg) c.2069C>G (p.Pro690Arg) c.2177C>G (p.Pro726Arg) c.2174C>G (p.Pro725Arg) c.2093C>G (p.Pro698Arg) c.2090C>G (p.Pro697Arg) | |
| X | g.20155462G>T | CA412511945 | RPS6KA3 | c.2159C>A (p.Pro720Gln) c.2072C>A (p.Pro691Gln) c.2075C>A (p.Pro692Gln) c.1777C>A (n.1777C>A) c.*1380C>A (n.*1380C>A) n.826C>A c.2156C>A (p.Pro719Gln) c.2069C>A (p.Pro690Gln) c.2177C>A (p.Pro726Gln) c.2174C>A (p.Pro725Gln) c.2093C>A (p.Pro698Gln) c.2090C>A (p.Pro697Gln) | |
| X | g.20155463G>A | CA412511952 | RPS6KA3 | c.2158C>T (p.Pro720Ser) c.2071C>T (p.Pro691Ser) c.2074C>T (p.Pro692Ser) c.1776C>T (n.1776C>T) c.*1379C>T (n.*1379C>T) n.825C>T c.2155C>T (p.Pro719Ser) c.2068C>T (p.Pro690Ser) c.2176C>T (p.Pro726Ser) c.2173C>T (p.Pro725Ser) c.2092C>T (p.Pro698Ser) c.2089C>T (p.Pro697Ser) | |
| X | g.20155463G>C | CA412511949 | RPS6KA3 | c.2158C>G (p.Pro720Ala) c.2071C>G (p.Pro691Ala) c.2074C>G (p.Pro692Ala) c.1776C>G (n.1776C>G) c.*1379C>G (n.*1379C>G) n.825C>G c.2155C>G (p.Pro719Ala) c.2068C>G (p.Pro690Ala) c.2176C>G (p.Pro726Ala) c.2173C>G (p.Pro725Ala) c.2092C>G (p.Pro698Ala) c.2089C>G (p.Pro697Ala) | |
| X | g.20155463G>T | CA412511948 | RPS6KA3 | c.2158C>A (p.Pro720Thr) c.2071C>A (p.Pro691Thr) c.2074C>A (p.Pro692Thr) c.1776C>A (n.1776C>A) c.*1379C>A (n.*1379C>A) n.825C>A c.2155C>A (p.Pro719Thr) c.2068C>A (p.Pro690Thr) c.2176C>A (p.Pro726Thr) c.2173C>A (p.Pro725Thr) c.2092C>A (p.Pro698Thr) c.2089C>A (p.Pro697Thr) | |
| X | g.20155464T>A | CA412511954 | RPS6KA3 | c.2157A>T (p.Glu719Asp) c.2070A>T (p.Glu690Asp) c.2073A>T (p.Glu691Asp) c.1775A>T (n.1775A>T) c.*1378A>T (n.*1378A>T) n.824A>T c.2154A>T (p.Glu718Asp) c.2067A>T (p.Glu689Asp) c.2175A>T (p.Glu725Asp) c.2172A>T (p.Glu724Asp) c.2091A>T (p.Glu697Asp) c.2088A>T (p.Glu696Asp) | |
| X | g.20155464T>C | CA515613315 | RPS6KA3 | c.2157A>G (p.Glu719=) c.2070A>G (p.Glu690=) c.2073A>G (p.Glu691=) c.1775A>G (n.1775A>G) c.*1378A>G (n.*1378A>G) n.824A>G c.2154A>G (p.Glu718=) c.2067A>G (p.Glu689=) c.2175A>G (p.Glu725=) c.2172A>G (p.Glu724=) c.2091A>G (p.Glu697=) c.2088A>G (p.Glu696=) | gnomAD v4 |
| X | g.20155464T>G | CA412511956 | RPS6KA3 | c.2157A>C (p.Glu719Asp) c.2070A>C (p.Glu690Asp) c.2073A>C (p.Glu691Asp) c.1775A>C (n.1775A>C) c.*1378A>C (n.*1378A>C) n.824A>C c.2154A>C (p.Glu718Asp) c.2067A>C (p.Glu689Asp) c.2175A>C (p.Glu725Asp) c.2172A>C (p.Glu724Asp) c.2091A>C (p.Glu697Asp) c.2088A>C (p.Glu696Asp) | |
| X | g.20155465T>A | CA412511958 | RPS6KA3 | c.2156A>T (p.Glu719Val) c.2069A>T (p.Glu690Val) c.2072A>T (p.Glu691Val) c.1774A>T (n.1774A>T) c.*1377A>T (n.*1377A>T) n.823A>T c.2153A>T (p.Glu718Val) c.2066A>T (p.Glu689Val) c.2174A>T (p.Glu725Val) c.2171A>T (p.Glu724Val) c.2090A>T (p.Glu697Val) c.2087A>T (p.Glu696Val) | |
| X | g.20155465T>C | CA412511960 | RPS6KA3 | c.2156A>G (p.Glu719Gly) c.2069A>G (p.Glu690Gly) c.2072A>G (p.Glu691Gly) c.1774A>G (n.1774A>G) c.*1377A>G (n.*1377A>G) n.823A>G c.2153A>G (p.Glu718Gly) c.2066A>G (p.Glu689Gly) c.2174A>G (p.Glu725Gly) c.2171A>G (p.Glu724Gly) c.2090A>G (p.Glu697Gly) c.2087A>G (p.Glu696Gly) | |
| X | g.20155465T>G | CA412511962 | RPS6KA3 | c.2156A>C (p.Glu719Ala) c.2069A>C (p.Glu690Ala) c.2072A>C (p.Glu691Ala) c.1774A>C (n.1774A>C) c.*1377A>C (n.*1377A>C) n.823A>C c.2153A>C (p.Glu718Ala) c.2066A>C (p.Glu689Ala) c.2174A>C (p.Glu725Ala) c.2171A>C (p.Glu724Ala) c.2090A>C (p.Glu697Ala) c.2087A>C (p.Glu696Ala) | |
| X | g.20155466C>A | CA412511963 | RPS6KA3 | c.2155G>T (p.Glu719Ter) c.2068G>T (p.Glu690Ter) c.2071G>T (p.Glu691Ter) c.1773G>T (n.1773G>T) c.*1376G>T (n.*1376G>T) n.822G>T c.2152G>T (p.Glu718Ter) c.2065G>T (p.Glu689Ter) c.2173G>T (p.Glu725Ter) c.2170G>T (p.Glu724Ter) c.2089G>T (p.Glu697Ter) c.2086G>T (p.Glu696Ter) | |
| X | g.20155466C>G | CA412511965 | RPS6KA3 | c.2155G>C (p.Glu719Gln) c.2068G>C (p.Glu690Gln) c.2071G>C (p.Glu691Gln) c.1773G>C (n.1773G>C) c.*1376G>C (n.*1376G>C) n.822G>C c.2152G>C (p.Glu718Gln) c.2065G>C (p.Glu689Gln) c.2173G>C (p.Glu725Gln) c.2170G>C (p.Glu724Gln) c.2089G>C (p.Glu697Gln) c.2086G>C (p.Glu696Gln) | gnomAD v4 |
| X | g.20155466C>T | CA412511966 | RPS6KA3 | c.2155G>A (p.Glu719Lys) c.2068G>A (p.Glu690Lys) c.2071G>A (p.Glu691Lys) c.1773G>A (n.1773G>A) c.*1376G>A (n.*1376G>A) n.822G>A c.2152G>A (p.Glu718Lys) c.2065G>A (p.Glu689Lys) c.2173G>A (p.Glu725Lys) c.2170G>A (p.Glu724Lys) c.2089G>A (p.Glu697Lys) c.2086G>A (p.Glu696Lys) | |
| X | g.20155467C>A | CA412511968 | RPS6KA3 | c.2154G>T (p.Leu718Phe) c.2067G>T (p.Leu689Phe) c.2070G>T (p.Leu690Phe) c.1772G>T (n.1772G>T) c.*1375G>T (n.*1375G>T) n.821G>T c.2151G>T (p.Leu717Phe) c.2064G>T (p.Leu688Phe) c.2172G>T (p.Leu724Phe) c.2169G>T (p.Leu723Phe) c.2088G>T (p.Leu696Phe) c.2085G>T (p.Leu695Phe) | |
| X | g.20155467C>G | CA412511970 | RPS6KA3 | c.2154G>C (p.Leu718Phe) c.2067G>C (p.Leu689Phe) c.2070G>C (p.Leu690Phe) c.1772G>C (n.1772G>C) c.*1375G>C (n.*1375G>C) n.821G>C c.2151G>C (p.Leu717Phe) c.2064G>C (p.Leu688Phe) c.2172G>C (p.Leu724Phe) c.2169G>C (p.Leu723Phe) c.2088G>C (p.Leu696Phe) c.2085G>C (p.Leu695Phe) | |
| X | g.20155467C>T | CA515613316 | RPS6KA3 | c.2154G>A (p.Leu718=) c.2067G>A (p.Leu689=) c.2070G>A (p.Leu690=) c.1772G>A (n.1772G>A) c.*1375G>A (n.*1375G>A) n.821G>A c.2151G>A (p.Leu717=) c.2064G>A (p.Leu688=) c.2172G>A (p.Leu724=) c.2169G>A (p.Leu723=) c.2088G>A (p.Leu696=) c.2085G>A (p.Leu695=) | |
| X | g.20155468A>C | CA412511972 | RPS6KA3 | c.2153T>G (p.Leu718Trp) c.2066T>G (p.Leu689Trp) c.2069T>G (p.Leu690Trp) c.1771T>G (n.1771T>G) c.*1374T>G (n.*1374T>G) n.820T>G c.2150T>G (p.Leu717Trp) c.2063T>G (p.Leu688Trp) c.2171T>G (p.Leu724Trp) c.2168T>G (p.Leu723Trp) c.2087T>G (p.Leu696Trp) c.2084T>G (p.Leu695Trp) | |
| X | g.20155468A>G | CA412511973 | RPS6KA3 | c.2153T>C (p.Leu718Ser) c.2066T>C (p.Leu689Ser) c.2069T>C (p.Leu690Ser) c.1771T>C (n.1771T>C) c.*1374T>C (n.*1374T>C) n.820T>C c.2150T>C (p.Leu717Ser) c.2063T>C (p.Leu688Ser) c.2171T>C (p.Leu724Ser) c.2168T>C (p.Leu723Ser) c.2087T>C (p.Leu696Ser) c.2084T>C (p.Leu695Ser) | |
| X | g.20155468A>T | CA412511975 | RPS6KA3 | c.2153T>A (p.Leu718Ter) c.2066T>A (p.Leu689Ter) c.2069T>A (p.Leu690Ter) c.1771T>A (n.1771T>A) c.*1374T>A (n.*1374T>A) n.820T>A c.2150T>A (p.Leu717Ter) c.2063T>A (p.Leu688Ter) c.2171T>A (p.Leu724Ter) c.2168T>A (p.Leu723Ter) c.2087T>A (p.Leu696Ter) c.2084T>A (p.Leu695Ter) | |
| X | g.20155469A>C | CA412511978 | RPS6KA3 | c.2152T>G (p.Leu718Val) c.2065T>G (p.Leu689Val) c.2068T>G (p.Leu690Val) c.1770T>G (n.1770T>G) c.*1373T>G (n.*1373T>G) n.819T>G c.2149T>G (p.Leu717Val) c.2062T>G (p.Leu688Val) c.2170T>G (p.Leu724Val) c.2167T>G (p.Leu723Val) c.2086T>G (p.Leu696Val) c.2083T>G (p.Leu695Val) | |
| X | g.20155469A>G | CA515613317 | RPS6KA3 | c.2152T>C (p.Leu718=) c.2065T>C (p.Leu689=) c.2068T>C (p.Leu690=) c.1770T>C (n.1770T>C) c.*1373T>C (n.*1373T>C) n.819T>C c.2149T>C (p.Leu717=) c.2062T>C (p.Leu688=) c.2170T>C (p.Leu724=) c.2167T>C (p.Leu723=) c.2086T>C (p.Leu696=) c.2083T>C (p.Leu695=) | |
| X | g.20155469A>T | CA412511979 | RPS6KA3 | c.2152T>A (p.Leu718Met) c.2065T>A (p.Leu689Met) c.2068T>A (p.Leu690Met) c.1770T>A (n.1770T>A) c.*1373T>A (n.*1373T>A) n.819T>A c.2149T>A (p.Leu717Met) c.2062T>A (p.Leu688Met) c.2170T>A (p.Leu724Met) c.2167T>A (p.Leu723Met) c.2086T>A (p.Leu696Met) c.2083T>A (p.Leu695Met) | |
| X | g.20155470A>C | CA515613318 | RPS6KA3 | c.2151T>G (p.Val717=) c.2064T>G (p.Val688=) c.2067T>G (p.Val689=) c.1769T>G (n.1769T>G) c.*1372T>G (n.*1372T>G) n.818T>G c.2148T>G (p.Val716=) c.2061T>G (p.Val687=) c.2169T>G (p.Val723=) c.2166T>G (p.Val722=) c.2085T>G (p.Val695=) c.2082T>G (p.Val694=) | |
| X | g.20155470A>G | CA515613319 | RPS6KA3 | c.2151T>C (p.Val717=) c.2064T>C (p.Val688=) c.2067T>C (p.Val689=) c.1769T>C (n.1769T>C) c.*1372T>C (n.*1372T>C) n.818T>C c.2148T>C (p.Val716=) c.2061T>C (p.Val687=) c.2169T>C (p.Val723=) c.2166T>C (p.Val722=) c.2085T>C (p.Val695=) c.2082T>C (p.Val694=) | |
| X | g.20155470A>T | CA515613320 | RPS6KA3 | c.2151T>A (p.Val717=) c.2064T>A (p.Val688=) c.2067T>A (p.Val689=) c.1769T>A (n.1769T>A) c.*1372T>A (n.*1372T>A) n.818T>A c.2148T>A (p.Val716=) c.2061T>A (p.Val687=) c.2169T>A (p.Val723=) c.2166T>A (p.Val722=) c.2085T>A (p.Val695=) c.2082T>A (p.Val694=) | |
| X | g.20155471A>C | CA412511982 | RPS6KA3 | c.2150T>G (p.Val717Gly) c.2063T>G (p.Val688Gly) c.2066T>G (p.Val689Gly) c.1768T>G (n.1768T>G) c.*1371T>G (n.*1371T>G) n.817T>G c.2147T>G (p.Val716Gly) c.2060T>G (p.Val687Gly) c.2168T>G (p.Val723Gly) c.2165T>G (p.Val722Gly) c.2084T>G (p.Val695Gly) c.2081T>G (p.Val694Gly) | |
| X | g.20155471A>G | CA412511984 | RPS6KA3 | c.2150T>C (p.Val717Ala) c.2063T>C (p.Val688Ala) c.2066T>C (p.Val689Ala) c.1768T>C (n.1768T>C) c.*1371T>C (n.*1371T>C) n.817T>C c.2147T>C (p.Val716Ala) c.2060T>C (p.Val687Ala) c.2168T>C (p.Val723Ala) c.2165T>C (p.Val722Ala) c.2084T>C (p.Val695Ala) c.2081T>C (p.Val694Ala) | |
| X | g.20155471A>T | CA412511985 | RPS6KA3 | c.2150T>A (p.Val717Asp) c.2063T>A (p.Val688Asp) c.2066T>A (p.Val689Asp) c.1768T>A (n.1768T>A) c.*1371T>A (n.*1371T>A) n.817T>A c.2147T>A (p.Val716Asp) c.2060T>A (p.Val687Asp) c.2168T>A (p.Val723Asp) c.2165T>A (p.Val722Asp) c.2084T>A (p.Val695Asp) c.2081T>A (p.Val694Asp) | |
| X | g.20155472C>A | CA412511987 | RPS6KA3 | c.2149G>T (p.Val717Phe) c.2062G>T (p.Val688Phe) c.2065G>T (p.Val689Phe) c.1767G>T (n.1767G>T) c.*1370G>T (n.*1370G>T) n.816G>T c.2146G>T (p.Val716Phe) c.2059G>T (p.Val687Phe) c.2167G>T (p.Val723Phe) c.2164G>T (p.Val722Phe) c.2083G>T (p.Val695Phe) c.2080G>T (p.Val694Phe) | |
| X | g.20155472C>G | CA412511989 | RPS6KA3 | c.2149G>C (p.Val717Leu) c.2062G>C (p.Val688Leu) c.2065G>C (p.Val689Leu) c.1767G>C (n.1767G>C) c.*1370G>C (n.*1370G>C) n.816G>C c.2146G>C (p.Val716Leu) c.2059G>C (p.Val687Leu) c.2167G>C (p.Val723Leu) c.2164G>C (p.Val722Leu) c.2083G>C (p.Val695Leu) c.2080G>C (p.Val694Leu) | |
| X | g.20155472C>T | CA412511991 | RPS6KA3 | c.2149G>A (p.Val717Ile) c.2062G>A (p.Val688Ile) c.2065G>A (p.Val689Ile) c.1767G>A (n.1767G>A) c.*1370G>A (n.*1370G>A) n.816G>A c.2146G>A (p.Val716Ile) c.2059G>A (p.Val687Ile) c.2167G>A (p.Val723Ile) c.2164G>A (p.Val722Ile) c.2083G>A (p.Val695Ile) c.2080G>A (p.Val694Ile) | |
| X | g.20155473T>A | CA515613321 | RPS6KA3 | c.2148A>T (p.Pro716=) c.2061A>T (p.Pro687=) c.2064A>T (p.Pro688=) c.1766A>T (n.1766A>T) c.*1369A>T (n.*1369A>T) n.815A>T c.2145A>T (p.Pro715=) c.2058A>T (p.Pro686=) c.2166A>T (p.Pro722=) c.2163A>T (p.Pro721=) c.2082A>T (p.Pro694=) c.2079A>T (p.Pro693=) | |
| X | g.20155473T>C | CA515613323 | RPS6KA3 | c.2148A>G (p.Pro716=) c.2061A>G (p.Pro687=) c.2064A>G (p.Pro688=) c.1766A>G (n.1766A>G) c.*1369A>G (n.*1369A>G) n.815A>G c.2145A>G (p.Pro715=) c.2058A>G (p.Pro686=) c.2166A>G (p.Pro722=) c.2163A>G (p.Pro721=) c.2082A>G (p.Pro694=) c.2079A>G (p.Pro693=) | |
| X | g.20155473T>G | CA515613322 | RPS6KA3 | c.2148A>C (p.Pro716=) c.2061A>C (p.Pro687=) c.2064A>C (p.Pro688=) c.1766A>C (n.1766A>C) c.*1369A>C (n.*1369A>C) n.815A>C c.2145A>C (p.Pro715=) c.2058A>C (p.Pro686=) c.2166A>C (p.Pro722=) c.2163A>C (p.Pro721=) c.2082A>C (p.Pro694=) c.2079A>C (p.Pro693=) | |
| X | g.20155474G>A | CA412511992 | RPS6KA3 | c.2147C>T (p.Pro716Leu) c.2060C>T (p.Pro687Leu) c.2063C>T (p.Pro688Leu) c.1765C>T (n.1765C>T) c.*1368C>T (n.*1368C>T) n.814C>T c.2144C>T (p.Pro715Leu) c.2057C>T (p.Pro686Leu) c.2165C>T (p.Pro722Leu) c.2162C>T (p.Pro721Leu) c.2081C>T (p.Pro694Leu) c.2078C>T (p.Pro693Leu) | |
| X | g.20155474G>C | CA412511994 | RPS6KA3 | c.2147C>G (p.Pro716Arg) c.2060C>G (p.Pro687Arg) c.2063C>G (p.Pro688Arg) c.1765C>G (n.1765C>G) c.*1368C>G (n.*1368C>G) n.814C>G c.2144C>G (p.Pro715Arg) c.2057C>G (p.Pro686Arg) c.2165C>G (p.Pro722Arg) c.2162C>G (p.Pro721Arg) c.2081C>G (p.Pro694Arg) c.2078C>G (p.Pro693Arg) | |
| X | g.20155474G>T | CA412511996 | RPS6KA3 | c.2147C>A (p.Pro716Gln) c.2060C>A (p.Pro687Gln) c.2063C>A (p.Pro688Gln) c.1765C>A (n.1765C>A) c.*1368C>A (n.*1368C>A) n.814C>A c.2144C>A (p.Pro715Gln) c.2057C>A (p.Pro686Gln) c.2165C>A (p.Pro722Gln) c.2162C>A (p.Pro721Gln) c.2081C>A (p.Pro694Gln) c.2078C>A (p.Pro693Gln) | |
| X | g.20155475G>A | CA412511997 | RPS6KA3 | c.2146C>T (p.Pro716Ser) c.2059C>T (p.Pro687Ser) c.2062C>T (p.Pro688Ser) c.1764C>T (n.1764C>T) c.*1367C>T (n.*1367C>T) n.813C>T c.2143C>T (p.Pro715Ser) c.2056C>T (p.Pro686Ser) c.2164C>T (p.Pro722Ser) c.2161C>T (p.Pro721Ser) c.2080C>T (p.Pro694Ser) c.2077C>T (p.Pro693Ser) | |
| X | g.20155475G>C | CA412511999 | RPS6KA3 | c.2146C>G (p.Pro716Ala) c.2059C>G (p.Pro687Ala) c.2062C>G (p.Pro688Ala) c.1764C>G (n.1764C>G) c.*1367C>G (n.*1367C>G) n.813C>G c.2143C>G (p.Pro715Ala) c.2056C>G (p.Pro686Ala) c.2164C>G (p.Pro722Ala) c.2161C>G (p.Pro721Ala) c.2080C>G (p.Pro694Ala) c.2077C>G (p.Pro693Ala) | |
| X | g.20155475G>T | CA412512001 | RPS6KA3 | c.2146C>A (p.Pro716Thr) c.2059C>A (p.Pro687Thr) c.2062C>A (p.Pro688Thr) c.1764C>A (n.1764C>A) c.*1367C>A (n.*1367C>A) n.813C>A c.2143C>A (p.Pro715Thr) c.2056C>A (p.Pro686Thr) c.2164C>A (p.Pro722Thr) c.2161C>A (p.Pro721Thr) c.2080C>A (p.Pro694Thr) c.2077C>A (p.Pro693Thr) | |
| X | g.20155476_20155477del | CA2579569023 | RPS6KA3 | c.2145_2146del (p.Pro716SerfsTer17) c.2058_2059del (p.Pro687SerfsTer17) c.2061_2062del (p.Pro688SerfsTer17) c.1763_1764del (n.1763_1764del) c.*1366_*1367del (n.*1366_*1367del) n.812_813del c.2142_2143del (p.Pro715SerfsTer17) c.2055_2056del (p.Pro686SerfsTer17) c.2163_2164del (p.Pro722SerfsTer?) c.2160_2161del (p.Pro721SerfsTer17) c.2079_2080del (p.Pro694SerfsTer17) c.2076_2077del (p.Pro693SerfsTer17) | |
| X | g.20155476T>A | CA515613324 | RPS6KA3 | c.2145A>T (p.Ser715=) c.2058A>T (p.Ser686=) c.2061A>T (p.Ser687=) c.1763A>T (n.1763A>T) c.*1366A>T (n.*1366A>T) n.812A>T c.2142A>T (p.Ser714=) c.2055A>T (p.Ser685=) c.2163A>T (p.Ser721=) c.2160A>T (p.Ser720=) c.2079A>T (p.Ser693=) c.2076A>T (p.Ser692=) | |
| X | g.20155476T>C | CA515613325 | RPS6KA3 | c.2145A>G (p.Ser715=) c.2058A>G (p.Ser686=) c.2061A>G (p.Ser687=) c.1763A>G (n.1763A>G) c.*1366A>G (n.*1366A>G) n.812A>G c.2142A>G (p.Ser714=) c.2055A>G (p.Ser685=) c.2163A>G (p.Ser721=) c.2160A>G (p.Ser720=) c.2079A>G (p.Ser693=) c.2076A>G (p.Ser692=) | |
| X | g.20155476T>G | CA515613326 | RPS6KA3 | c.2145A>C (p.Ser715=) c.2058A>C (p.Ser686=) c.2061A>C (p.Ser687=) c.1763A>C (n.1763A>C) c.*1366A>C (n.*1366A>C) n.812A>C c.2142A>C (p.Ser714=) c.2055A>C (p.Ser685=) c.2163A>C (p.Ser721=) c.2160A>C (p.Ser720=) c.2079A>C (p.Ser693=) c.2076A>C (p.Ser692=) | |
| X | g.20155476_20155477delinsTG | CA2418502966 | RPS6KA3 | c.2144_2145delinsCA (p.Ser715=) c.2057_2058delinsCA (p.Ser686=) c.2060_2061delinsCA (p.Ser687=) c.1762_1763delinsCA (n.1762_1763delinsCA) c.*1365_*1366delinsCA (n.*1365_*1366delinsCA) n.811_812delinsCA c.2141_2142delinsCA (p.Ser714=) c.2054_2055delinsCA (p.Ser685=) c.2162_2163delinsCA (p.Ser721=) c.2159_2160delinsCA (p.Ser720=) c.2078_2079delinsCA (p.Ser693=) c.2075_2076delinsCA (p.Ser692=) | |
| X | g.20155479_20155482dup | CA2573158439 | RPS6KA3 | c.2142_2145dup (p.Pro716ValfsTer19) c.2055_2058dup (p.Pro687ValfsTer19) c.2058_2061dup (p.Pro688ValfsTer19) c.1760_1763dup (n.1760_1763dup) c.*1363_*1366dup (n.*1363_*1366dup) n.809_812dup c.2139_2142dup (p.Pro715ValfsTer19) c.2052_2055dup (p.Pro686ValfsTer19) c.2160_2163dup (p.Pro722ValfsTer?) c.2157_2160dup (p.Pro721ValfsTer19) c.2076_2079dup (p.Pro694ValfsTer19) c.2073_2076dup (p.Pro693ValfsTer19) | ClinVar dbSNP |
| X | g.20155477del | CA913185055 | RPS6KA3 | c.2144del (p.Ser715TyrfsTer7) c.2057del (p.Ser686TyrfsTer7) c.2060del (p.Ser687TyrfsTer7) c.1762del (n.1762del) c.*1365del (n.*1365del) n.811del c.2141del (p.Ser714TyrfsTer7) c.2054del (p.Ser685TyrfsTer7) c.2162del (p.Ser721TyrfsTer7) c.2159del (p.Ser720TyrfsTer7) c.2078del (p.Ser693TyrfsTer7) c.2075del (p.Ser692TyrfsTer7) | ClinVar dbSNP |
| X | g.20155477G>A | CA412512005 | RPS6KA3 | c.2144C>T (p.Ser715Leu) c.2057C>T (p.Ser686Leu) c.2060C>T (p.Ser687Leu) c.1762C>T (n.1762C>T) c.*1365C>T (n.*1365C>T) n.811C>T c.2141C>T (p.Ser714Leu) c.2054C>T (p.Ser685Leu) c.2162C>T (p.Ser721Leu) c.2159C>T (p.Ser720Leu) c.2078C>T (p.Ser693Leu) c.2075C>T (p.Ser692Leu) | |
| X | g.20155477G>C | CA412512007 | RPS6KA3 | c.2144C>G (p.Ser715Ter) c.2057C>G (p.Ser686Ter) c.2060C>G (p.Ser687Ter) c.1762C>G (n.1762C>G) c.*1365C>G (n.*1365C>G) n.811C>G c.2141C>G (p.Ser714Ter) c.2054C>G (p.Ser685Ter) c.2162C>G (p.Ser721Ter) c.2159C>G (p.Ser720Ter) c.2078C>G (p.Ser693Ter) c.2075C>G (p.Ser692Ter) | |
| X | g.20155477G>T | CA412512003 | RPS6KA3 | c.2144C>A (p.Ser715Ter) c.2057C>A (p.Ser686Ter) c.2060C>A (p.Ser687Ter) c.1762C>A (n.1762C>A) c.*1365C>A (n.*1365C>A) n.811C>A c.2141C>A (p.Ser714Ter) c.2054C>A (p.Ser685Ter) c.2162C>A (p.Ser721Ter) c.2159C>A (p.Ser720Ter) c.2078C>A (p.Ser693Ter) c.2075C>A (p.Ser692Ter) | |
| X | g.20155478A>C | CA412512008 | RPS6KA3 | c.2143T>G (p.Ser715Ala) c.2056T>G (p.Ser686Ala) c.2059T>G (p.Ser687Ala) c.1761T>G (n.1761T>G) c.*1364T>G (n.*1364T>G) n.810T>G c.2140T>G (p.Ser714Ala) c.2053T>G (p.Ser685Ala) c.2161T>G (p.Ser721Ala) c.2158T>G (p.Ser720Ala) c.2077T>G (p.Ser693Ala) c.2074T>G (p.Ser692Ala) | |
| X | g.20155478A>G | CA412512010 | RPS6KA3 | c.2143T>C (p.Ser715Pro) c.2056T>C (p.Ser686Pro) c.2059T>C (p.Ser687Pro) c.1761T>C (n.1761T>C) c.*1364T>C (n.*1364T>C) n.810T>C c.2140T>C (p.Ser714Pro) c.2053T>C (p.Ser685Pro) c.2161T>C (p.Ser721Pro) c.2158T>C (p.Ser720Pro) c.2077T>C (p.Ser693Pro) c.2074T>C (p.Ser692Pro) | |
| X | g.20155478A>T | CA412512012 | RPS6KA3 | c.2143T>A (p.Ser715Thr) c.2056T>A (p.Ser686Thr) c.2059T>A (p.Ser687Thr) c.1761T>A (n.1761T>A) c.*1364T>A (n.*1364T>A) n.810T>A c.2140T>A (p.Ser714Thr) c.2053T>A (p.Ser685Thr) c.2161T>A (p.Ser721Thr) c.2158T>A (p.Ser720Thr) c.2077T>A (p.Ser693Thr) c.2074T>A (p.Ser692Thr) | |
| X | g.20155479C>A | CA412512014 | RPS6KA3 | c.2142G>T (p.Gln714His) c.2055G>T (p.Gln685His) c.2058G>T (p.Gln686His) c.1760G>T (n.1760G>T) c.*1363G>T (n.*1363G>T) n.809G>T c.2139G>T (p.Gln713His) c.2052G>T (p.Gln684His) c.2160G>T (p.Gln720His) c.2157G>T (p.Gln719His) c.2076G>T (p.Gln692His) c.2073G>T (p.Gln691His) | |
| X | g.20155479C= | CA2418502967 | RPS6KA3 | c.2142G= (p.Gln714=) c.2055G= (p.Gln685=) c.2058G= (p.Gln686=) c.1760G= (n.1760G=) c.*1363G= (n.*1363G=) n.809G= c.2139G= (p.Gln713=) c.2052G= (p.Gln684=) c.2160G= (p.Gln720=) c.2157G= (p.Gln719=) c.2076G= (p.Gln692=) c.2073G= (p.Gln691=) | |
| X | g.20155479C>G | CA412512016 | RPS6KA3 | c.2142G>C (p.Gln714His) c.2055G>C (p.Gln685His) c.2058G>C (p.Gln686His) c.1760G>C (n.1760G>C) c.*1363G>C (n.*1363G>C) n.809G>C c.2139G>C (p.Gln713His) c.2052G>C (p.Gln684His) c.2160G>C (p.Gln720His) c.2157G>C (p.Gln719His) c.2076G>C (p.Gln692His) c.2073G>C (p.Gln691His) | |
| X | g.20155479C>T | CA515613327 | RPS6KA3 | c.2142G>A (p.Gln714=) c.2055G>A (p.Gln685=) c.2058G>A (p.Gln686=) c.1760G>A (n.1760G>A) c.*1363G>A (n.*1363G>A) n.809G>A c.2139G>A (p.Gln713=) c.2052G>A (p.Gln684=) c.2160G>A (p.Gln720=) c.2157G>A (p.Gln719=) c.2076G>A (p.Gln692=) c.2073G>A (p.Gln691=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155480T>A | CA412512018 | RPS6KA3 | c.2141A>T (p.Gln714Leu) c.2054A>T (p.Gln685Leu) c.2057A>T (p.Gln686Leu) c.1759A>T (n.1759A>T) c.*1362A>T (n.*1362A>T) n.808A>T c.2138A>T (p.Gln713Leu) c.2051A>T (p.Gln684Leu) c.2159A>T (p.Gln720Leu) c.2156A>T (p.Gln719Leu) c.2075A>T (p.Gln692Leu) c.2072A>T (p.Gln691Leu) | |
| X | g.20155480T>C | CA412512019 | RPS6KA3 | c.2141A>G (p.Gln714Arg) c.2054A>G (p.Gln685Arg) c.2057A>G (p.Gln686Arg) c.1759A>G (n.1759A>G) c.*1362A>G (n.*1362A>G) n.808A>G c.2138A>G (p.Gln713Arg) c.2051A>G (p.Gln684Arg) c.2159A>G (p.Gln720Arg) c.2156A>G (p.Gln719Arg) c.2075A>G (p.Gln692Arg) c.2072A>G (p.Gln691Arg) | |
| X | g.20155480T>G | CA412512022 | RPS6KA3 | c.2141A>C (p.Gln714Pro) c.2054A>C (p.Gln685Pro) c.2057A>C (p.Gln686Pro) c.1759A>C (n.1759A>C) c.*1362A>C (n.*1362A>C) n.808A>C c.2138A>C (p.Gln713Pro) c.2051A>C (p.Gln684Pro) c.2159A>C (p.Gln720Pro) c.2156A>C (p.Gln719Pro) c.2075A>C (p.Gln692Pro) c.2072A>C (p.Gln691Pro) | |
| X | g.20155481G>A | CA412512026 | RPS6KA3 | c.2140C>T (p.Gln714Ter) c.2053C>T (p.Gln685Ter) c.2056C>T (p.Gln686Ter) c.1758C>T (n.1758C>T) c.*1361C>T (n.*1361C>T) n.807C>T c.2137C>T (p.Gln713Ter) c.2050C>T (p.Gln684Ter) c.2158C>T (p.Gln720Ter) c.2155C>T (p.Gln719Ter) c.2074C>T (p.Gln692Ter) c.2071C>T (p.Gln691Ter) | |
| X | g.20155481G>C | CA412512028 | RPS6KA3 | c.2140C>G (p.Gln714Glu) c.2053C>G (p.Gln685Glu) c.2056C>G (p.Gln686Glu) c.1758C>G (n.1758C>G) c.*1361C>G (n.*1361C>G) n.807C>G c.2137C>G (p.Gln713Glu) c.2050C>G (p.Gln684Glu) c.2158C>G (p.Gln720Glu) c.2155C>G (p.Gln719Glu) c.2074C>G (p.Gln692Glu) c.2071C>G (p.Gln691Glu) | |
| X | g.20155481G>T | CA412512029 | RPS6KA3 | c.2140C>A (p.Gln714Lys) c.2053C>A (p.Gln685Lys) c.2056C>A (p.Gln686Lys) c.1758C>A (n.1758C>A) c.*1361C>A (n.*1361C>A) n.807C>A c.2137C>A (p.Gln713Lys) c.2050C>A (p.Gln684Lys) c.2158C>A (p.Gln720Lys) c.2155C>A (p.Gln719Lys) c.2074C>A (p.Gln692Lys) c.2071C>A (p.Gln691Lys) | |
| X | g.20155482A>C | CA412512030 | RPS6KA3 | c.2139T>G (p.Asn713Lys) c.2052T>G (p.Asn684Lys) c.2055T>G (p.Asn685Lys) c.1757T>G (n.1757T>G) c.*1360T>G (n.*1360T>G) n.806T>G c.2136T>G (p.Asn712Lys) c.2049T>G (p.Asn683Lys) c.2157T>G (p.Asn719Lys) c.2154T>G (p.Asn718Lys) c.2073T>G (p.Asn691Lys) c.2070T>G (p.Asn690Lys) | |
| X | g.20155482A>G | CA515613328 | RPS6KA3 | c.2139T>C (p.Asn713=) c.2052T>C (p.Asn684=) c.2055T>C (p.Asn685=) c.1757T>C (n.1757T>C) c.*1360T>C (n.*1360T>C) n.806T>C c.2136T>C (p.Asn712=) c.2049T>C (p.Asn683=) c.2157T>C (p.Asn719=) c.2154T>C (p.Asn718=) c.2073T>C (p.Asn691=) c.2070T>C (p.Asn690=) | |
| X | g.20155482A>T | CA412512031 | RPS6KA3 | c.2139T>A (p.Asn713Lys) c.2052T>A (p.Asn684Lys) c.2055T>A (p.Asn685Lys) c.1757T>A (n.1757T>A) c.*1360T>A (n.*1360T>A) n.806T>A c.2136T>A (p.Asn712Lys) c.2049T>A (p.Asn683Lys) c.2157T>A (p.Asn719Lys) c.2154T>A (p.Asn718Lys) c.2073T>A (p.Asn691Lys) c.2070T>A (p.Asn690Lys) | |
| X | g.20155483T>A | CA412512043 | RPS6KA3 | c.2138A>T (p.Asn713Ile) c.2051A>T (p.Asn684Ile) c.2054A>T (p.Asn685Ile) c.1756A>T (n.1756A>T) c.*1359A>T (n.*1359A>T) n.805A>T c.2135A>T (p.Asn712Ile) c.2048A>T (p.Asn683Ile) c.2156A>T (p.Asn719Ile) c.2153A>T (p.Asn718Ile) c.2072A>T (p.Asn691Ile) c.2069A>T (p.Asn690Ile) | |
| X | g.20155483T>C | CA412512034 | RPS6KA3 | c.2138A>G (p.Asn713Ser) c.2051A>G (p.Asn684Ser) c.2054A>G (p.Asn685Ser) c.1756A>G (n.1756A>G) c.*1359A>G (n.*1359A>G) n.805A>G c.2135A>G (p.Asn712Ser) c.2048A>G (p.Asn683Ser) c.2156A>G (p.Asn719Ser) c.2153A>G (p.Asn718Ser) c.2072A>G (p.Asn691Ser) c.2069A>G (p.Asn690Ser) | |
| X | g.20155483T>G | CA412512032 | RPS6KA3 | c.2138A>C (p.Asn713Thr) c.2051A>C (p.Asn684Thr) c.2054A>C (p.Asn685Thr) c.1756A>C (n.1756A>C) c.*1359A>C (n.*1359A>C) n.805A>C c.2135A>C (p.Asn712Thr) c.2048A>C (p.Asn683Thr) c.2156A>C (p.Asn719Thr) c.2153A>C (p.Asn718Thr) c.2072A>C (p.Asn691Thr) c.2069A>C (p.Asn690Thr) | |
| X | g.20155484T>A | CA412512045 | RPS6KA3 | c.2137A>T (p.Asn713Tyr) c.2050A>T (p.Asn684Tyr) c.2053A>T (p.Asn685Tyr) c.1755A>T (n.1755A>T) c.*1358A>T (n.*1358A>T) n.804A>T c.2134A>T (p.Asn712Tyr) c.2047A>T (p.Asn683Tyr) c.2155A>T (p.Asn719Tyr) c.2152A>T (p.Asn718Tyr) c.2071A>T (p.Asn691Tyr) c.2068A>T (p.Asn690Tyr) | |
| X | g.20155484T>C | CA412512046 | RPS6KA3 | c.2137A>G (p.Asn713Asp) c.2050A>G (p.Asn684Asp) c.2053A>G (p.Asn685Asp) c.1755A>G (n.1755A>G) c.*1358A>G (n.*1358A>G) n.804A>G c.2134A>G (p.Asn712Asp) c.2047A>G (p.Asn683Asp) c.2155A>G (p.Asn719Asp) c.2152A>G (p.Asn718Asp) c.2071A>G (p.Asn691Asp) c.2068A>G (p.Asn690Asp) | gnomAD v4 |
| X | g.20155484T>G | CA412512047 | RPS6KA3 | c.2137A>C (p.Asn713His) c.2050A>C (p.Asn684His) c.2053A>C (p.Asn685His) c.1755A>C (n.1755A>C) c.*1358A>C (n.*1358A>C) n.804A>C c.2134A>C (p.Asn712His) c.2047A>C (p.Asn683His) c.2155A>C (p.Asn719His) c.2152A>C (p.Asn718His) c.2071A>C (p.Asn691His) c.2068A>C (p.Asn690His) | |
| X | g.20155485A>C | CA515613329 | RPS6KA3 | c.2136T>G (p.Arg712=) c.2049T>G (p.Arg683=) c.2052T>G (p.Arg684=) c.1754T>G (n.1754T>G) c.*1357T>G (n.*1357T>G) n.803T>G c.2133T>G (p.Arg711=) c.2046T>G (p.Arg682=) c.2154T>G (p.Arg718=) c.2151T>G (p.Arg717=) c.2070T>G (p.Arg690=) c.2067T>G (p.Arg689=) | |
| X | g.20155485A>G | CA515613330 | RPS6KA3 | c.2136T>C (p.Arg712=) c.2049T>C (p.Arg683=) c.2052T>C (p.Arg684=) c.1754T>C (n.1754T>C) c.*1357T>C (n.*1357T>C) n.803T>C c.2133T>C (p.Arg711=) c.2046T>C (p.Arg682=) c.2154T>C (p.Arg718=) c.2151T>C (p.Arg717=) c.2070T>C (p.Arg690=) c.2067T>C (p.Arg689=) | |
| X | g.20155485A>T | CA515613331 | RPS6KA3 | c.2136T>A (p.Arg712=) c.2049T>A (p.Arg683=) c.2052T>A (p.Arg684=) c.1754T>A (n.1754T>A) c.*1357T>A (n.*1357T>A) n.803T>A c.2133T>A (p.Arg711=) c.2046T>A (p.Arg682=) c.2154T>A (p.Arg718=) c.2151T>A (p.Arg717=) c.2070T>A (p.Arg690=) c.2067T>A (p.Arg689=) | |
| X | g.20155486C>A | CA412512048 | RPS6KA3 | c.2135G>T (p.Arg712Leu) c.2048G>T (p.Arg683Leu) c.2051G>T (p.Arg684Leu) c.1753G>T (n.1753G>T) c.*1356G>T (n.*1356G>T) n.802G>T c.2132G>T (p.Arg711Leu) c.2045G>T (p.Arg682Leu) c.2153G>T (p.Arg718Leu) c.2150G>T (p.Arg717Leu) c.2069G>T (p.Arg690Leu) c.2066G>T (p.Arg689Leu) | |
| X | g.20155486C= | CA2418502968 | RPS6KA3 | c.2135G= (p.Arg712=) c.2048G= (p.Arg683=) c.2051G= (p.Arg684=) c.1753G= (n.1753G=) c.*1356G= (n.*1356G=) n.802G= c.2132G= (p.Arg711=) c.2045G= (p.Arg682=) c.2153G= (p.Arg718=) c.2150G= (p.Arg717=) c.2069G= (p.Arg690=) c.2066G= (p.Arg689=) | |
| X | g.20155486C>G | CA412512049 | RPS6KA3 | c.2135G>C (p.Arg712Pro) c.2048G>C (p.Arg683Pro) c.2051G>C (p.Arg684Pro) c.1753G>C (n.1753G>C) c.*1356G>C (n.*1356G>C) n.802G>C c.2132G>C (p.Arg711Pro) c.2045G>C (p.Arg682Pro) c.2153G>C (p.Arg718Pro) c.2150G>C (p.Arg717Pro) c.2069G>C (p.Arg690Pro) c.2066G>C (p.Arg689Pro) | |
| X | g.20155486C>T | CA327473502 | RPS6KA3 | c.2135G>A (p.Arg712His) c.2048G>A (p.Arg683His) c.2051G>A (p.Arg684His) c.1753G>A (n.1753G>A) c.*1356G>A (n.*1356G>A) n.802G>A c.2132G>A (p.Arg711His) c.2045G>A (p.Arg682His) c.2153G>A (p.Arg718His) c.2150G>A (p.Arg717His) c.2069G>A (p.Arg690His) c.2066G>A (p.Arg689His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.20155487G>A | CA412512052 | RPS6KA3 | c.2134C>T (p.Arg712Cys) c.2047C>T (p.Arg683Cys) c.2050C>T (p.Arg684Cys) c.1752C>T (n.1752C>T) c.*1355C>T (n.*1355C>T) n.801C>T c.2131C>T (p.Arg711Cys) c.2044C>T (p.Arg682Cys) c.2152C>T (p.Arg718Cys) c.2149C>T (p.Arg717Cys) c.2068C>T (p.Arg690Cys) c.2065C>T (p.Arg689Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.20155487G>C | CA412512053 | RPS6KA3 | c.2134C>G (p.Arg712Gly) c.2047C>G (p.Arg683Gly) c.2050C>G (p.Arg684Gly) c.1752C>G (n.1752C>G) c.*1355C>G (n.*1355C>G) n.801C>G c.2131C>G (p.Arg711Gly) c.2044C>G (p.Arg682Gly) c.2152C>G (p.Arg718Gly) c.2149C>G (p.Arg717Gly) c.2068C>G (p.Arg690Gly) c.2065C>G (p.Arg689Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20155487G= | CA2418502969 | RPS6KA3 | c.2134C= (p.Arg712=) c.2047C= (p.Arg683=) c.2050C= (p.Arg684=) c.1752C= (n.1752C=) c.*1355C= (n.*1355C=) n.801C= c.2131C= (p.Arg711=) c.2044C= (p.Arg682=) c.2152C= (p.Arg718=) c.2149C= (p.Arg717=) c.2068C= (p.Arg690=) c.2065C= (p.Arg689=) | |
| X | g.20155487G>T | CA412512055 | RPS6KA3 | c.2134C>A (p.Arg712Ser) c.2047C>A (p.Arg683Ser) c.2050C>A (p.Arg684Ser) c.1752C>A (n.1752C>A) c.*1355C>A (n.*1355C>A) n.801C>A c.2131C>A (p.Arg711Ser) c.2044C>A (p.Arg682Ser) c.2152C>A (p.Arg718Ser) c.2149C>A (p.Arg717Ser) c.2068C>A (p.Arg690Ser) c.2065C>A (p.Arg689Ser) | |
| X | g.20155488G>A | CA515613332 | RPS6KA3 | c.2133C>T (p.Asn711=) c.2046C>T (p.Asn682=) c.2049C>T (p.Asn683=) c.1751C>T (n.1751C>T) c.*1354C>T (n.*1354C>T) n.800C>T c.2130C>T (p.Asn710=) c.2043C>T (p.Asn681=) c.2151C>T (p.Asn717=) c.2148C>T (p.Asn716=) c.2067C>T (p.Asn689=) c.2064C>T (p.Asn688=) | |
| X | g.20155488G>C | CA412512057 | RPS6KA3 | c.2133C>G (p.Asn711Lys) c.2046C>G (p.Asn682Lys) c.2049C>G (p.Asn683Lys) c.1751C>G (n.1751C>G) c.*1354C>G (n.*1354C>G) n.800C>G c.2130C>G (p.Asn710Lys) c.2043C>G (p.Asn681Lys) c.2151C>G (p.Asn717Lys) c.2148C>G (p.Asn716Lys) c.2067C>G (p.Asn689Lys) c.2064C>G (p.Asn688Lys) | |
| X | g.20155488G>T | CA412512059 | RPS6KA3 | c.2133C>A (p.Asn711Lys) c.2046C>A (p.Asn682Lys) c.2049C>A (p.Asn683Lys) c.1751C>A (n.1751C>A) c.*1354C>A (n.*1354C>A) n.800C>A c.2130C>A (p.Asn710Lys) c.2043C>A (p.Asn681Lys) c.2151C>A (p.Asn717Lys) c.2148C>A (p.Asn716Lys) c.2067C>A (p.Asn689Lys) c.2064C>A (p.Asn688Lys) | |
| X | g.20155489T>A | CA412512060 | RPS6KA3 | c.2132A>T (p.Asn711Ile) c.2045A>T (p.Asn682Ile) c.2048A>T (p.Asn683Ile) c.1750A>T (n.1750A>T) c.*1353A>T (n.*1353A>T) n.799A>T c.2129A>T (p.Asn710Ile) c.2042A>T (p.Asn681Ile) c.2150A>T (p.Asn717Ile) c.2147A>T (p.Asn716Ile) c.2066A>T (p.Asn689Ile) c.2063A>T (p.Asn688Ile) | |
| X | g.20155489T>C | CA412512063 | RPS6KA3 | c.2132A>G (p.Asn711Ser) c.2045A>G (p.Asn682Ser) c.2048A>G (p.Asn683Ser) c.1750A>G (n.1750A>G) c.*1353A>G (n.*1353A>G) n.799A>G c.2129A>G (p.Asn710Ser) c.2042A>G (p.Asn681Ser) c.2150A>G (p.Asn717Ser) c.2147A>G (p.Asn716Ser) c.2066A>G (p.Asn689Ser) c.2063A>G (p.Asn688Ser) | |
| X | g.20155489T>G | CA412512064 | RPS6KA3 | c.2132A>C (p.Asn711Thr) c.2045A>C (p.Asn682Thr) c.2048A>C (p.Asn683Thr) c.1750A>C (n.1750A>C) c.*1353A>C (n.*1353A>C) n.799A>C c.2129A>C (p.Asn710Thr) c.2042A>C (p.Asn681Thr) c.2150A>C (p.Asn717Thr) c.2147A>C (p.Asn716Thr) c.2066A>C (p.Asn689Thr) c.2063A>C (p.Asn688Thr) | gnomAD v4 |
| X | g.20155490T>A | CA412512066 | RPS6KA3 | c.2131A>T (p.Asn711Tyr) c.2044A>T (p.Asn682Tyr) c.2047A>T (p.Asn683Tyr) c.1749A>T (n.1749A>T) c.*1352A>T (n.*1352A>T) n.798A>T c.2128A>T (p.Asn710Tyr) c.2041A>T (p.Asn681Tyr) c.2149A>T (p.Asn717Tyr) c.2146A>T (p.Asn716Tyr) c.2065A>T (p.Asn689Tyr) c.2062A>T (p.Asn688Tyr) | |
| X | g.20155490T>C | CA412512068 | RPS6KA3 | c.2131A>G (p.Asn711Asp) c.2044A>G (p.Asn682Asp) c.2047A>G (p.Asn683Asp) c.1749A>G (n.1749A>G) c.*1352A>G (n.*1352A>G) n.798A>G c.2128A>G (p.Asn710Asp) c.2041A>G (p.Asn681Asp) c.2149A>G (p.Asn717Asp) c.2146A>G (p.Asn716Asp) c.2065A>G (p.Asn689Asp) c.2062A>G (p.Asn688Asp) | |
| X | g.20155490T>G | CA412512065 | RPS6KA3 | c.2131A>C (p.Asn711His) c.2044A>C (p.Asn682His) c.2047A>C (p.Asn683His) c.1749A>C (n.1749A>C) c.*1352A>C (n.*1352A>C) n.798A>C c.2128A>C (p.Asn710His) c.2041A>C (p.Asn681His) c.2149A>C (p.Asn717His) c.2146A>C (p.Asn716His) c.2065A>C (p.Asn689His) c.2062A>C (p.Asn688His) | |
| X | g.20155491C>A | CA412512069 | RPS6KA3 | c.2130G>T (p.Leu710Phe) c.2043G>T (p.Leu681Phe) c.2046G>T (p.Leu682Phe) c.1748G>T (n.1748G>T) c.*1351G>T (n.*1351G>T) n.797G>T c.2127G>T (p.Leu709Phe) c.2040G>T (p.Leu680Phe) c.2148G>T (p.Leu716Phe) c.2145G>T (p.Leu715Phe) c.2064G>T (p.Leu688Phe) c.2061G>T (p.Leu687Phe) | |
| X | g.20155491C>G | CA412512071 | RPS6KA3 | c.2130G>C (p.Leu710Phe) c.2043G>C (p.Leu681Phe) c.2046G>C (p.Leu682Phe) c.1748G>C (n.1748G>C) c.*1351G>C (n.*1351G>C) n.797G>C c.2127G>C (p.Leu709Phe) c.2040G>C (p.Leu680Phe) c.2148G>C (p.Leu716Phe) c.2145G>C (p.Leu715Phe) c.2064G>C (p.Leu688Phe) c.2061G>C (p.Leu687Phe) | |
| X | g.20155491C>T | CA515613333 | RPS6KA3 | c.2130G>A (p.Leu710=) c.2043G>A (p.Leu681=) c.2046G>A (p.Leu682=) c.1748G>A (n.1748G>A) c.*1351G>A (n.*1351G>A) n.797G>A c.2127G>A (p.Leu709=) c.2040G>A (p.Leu680=) c.2148G>A (p.Leu716=) c.2145G>A (p.Leu715=) c.2064G>A (p.Leu688=) c.2061G>A (p.Leu687=) | |
| X | g.20155492A>C | CA412512073 | RPS6KA3 | c.2129T>G (p.Leu710Trp) c.2042T>G (p.Leu681Trp) c.2045T>G (p.Leu682Trp) c.1747T>G (n.1747T>G) c.*1350T>G (n.*1350T>G) n.796T>G c.2126T>G (p.Leu709Trp) c.2039T>G (p.Leu680Trp) c.2147T>G (p.Leu716Trp) c.2144T>G (p.Leu715Trp) c.2063T>G (p.Leu688Trp) c.2060T>G (p.Leu687Trp) | |
| X | g.20155492A>G | CA412512075 | RPS6KA3 | c.2129T>C (p.Leu710Ser) c.2042T>C (p.Leu681Ser) c.2045T>C (p.Leu682Ser) c.1747T>C (n.1747T>C) c.*1350T>C (n.*1350T>C) n.796T>C c.2126T>C (p.Leu709Ser) c.2039T>C (p.Leu680Ser) c.2147T>C (p.Leu716Ser) c.2144T>C (p.Leu715Ser) c.2063T>C (p.Leu688Ser) c.2060T>C (p.Leu687Ser) | |
| X | g.20155492A>T | CA412512079 | RPS6KA3 | c.2129T>A (p.Leu710Ter) c.2042T>A (p.Leu681Ter) c.2045T>A (p.Leu682Ter) c.1747T>A (n.1747T>A) c.*1350T>A (n.*1350T>A) n.796T>A c.2126T>A (p.Leu709Ter) c.2039T>A (p.Leu680Ter) c.2147T>A (p.Leu716Ter) c.2144T>A (p.Leu715Ter) c.2063T>A (p.Leu688Ter) c.2060T>A (p.Leu687Ter) | |
| X | g.20155493A>C | CA412512081 | RPS6KA3 | c.2128T>G (p.Leu710Val) c.2041T>G (p.Leu681Val) c.2044T>G (p.Leu682Val) c.1746T>G (n.1746T>G) c.*1349T>G (n.*1349T>G) n.795T>G c.2125T>G (p.Leu709Val) c.2038T>G (p.Leu680Val) c.2146T>G (p.Leu716Val) c.2143T>G (p.Leu715Val) c.2062T>G (p.Leu688Val) c.2059T>G (p.Leu687Val) | |
| X | g.20155493A>G | CA515613334 | RPS6KA3 | c.2128T>C (p.Leu710=) c.2041T>C (p.Leu681=) c.2044T>C (p.Leu682=) c.1746T>C (n.1746T>C) c.*1349T>C (n.*1349T>C) n.795T>C c.2125T>C (p.Leu709=) c.2038T>C (p.Leu680=) c.2146T>C (p.Leu716=) c.2143T>C (p.Leu715=) c.2062T>C (p.Leu688=) c.2059T>C (p.Leu687=) | |
| X | g.20155493A>T | CA412512082 | RPS6KA3 | c.2128T>A (p.Leu710Met) c.2041T>A (p.Leu681Met) c.2044T>A (p.Leu682Met) c.1746T>A (n.1746T>A) c.*1349T>A (n.*1349T>A) n.795T>A c.2125T>A (p.Leu709Met) c.2038T>A (p.Leu680Met) c.2146T>A (p.Leu716Met) c.2143T>A (p.Leu715Met) c.2062T>A (p.Leu688Met) c.2059T>A (p.Leu687Met) | |
| X | g.20155494A>C | CA515613337 | RPS6KA3 | c.2127T>G (p.Ala709=) c.2040T>G (p.Ala680=) c.2043T>G (p.Ala681=) c.1745T>G (n.1745T>G) c.*1348T>G (n.*1348T>G) n.794T>G c.2124T>G (p.Ala708=) c.2037T>G (p.Ala679=) c.2145T>G (p.Ala715=) c.2142T>G (p.Ala714=) c.2061T>G (p.Ala687=) c.2058T>G (p.Ala686=) | |
| X | g.20155494A>G | CA515613336 | RPS6KA3 | c.2127T>C (p.Ala709=) c.2040T>C (p.Ala680=) c.2043T>C (p.Ala681=) c.1745T>C (n.1745T>C) c.*1348T>C (n.*1348T>C) n.794T>C c.2124T>C (p.Ala708=) c.2037T>C (p.Ala679=) c.2145T>C (p.Ala715=) c.2142T>C (p.Ala714=) c.2061T>C (p.Ala687=) c.2058T>C (p.Ala686=) | |
| X | g.20155494A>T | CA515613335 | RPS6KA3 | c.2127T>A (p.Ala709=) c.2040T>A (p.Ala680=) c.2043T>A (p.Ala681=) c.1745T>A (n.1745T>A) c.*1348T>A (n.*1348T>A) n.794T>A c.2124T>A (p.Ala708=) c.2037T>A (p.Ala679=) c.2145T>A (p.Ala715=) c.2142T>A (p.Ala714=) c.2061T>A (p.Ala687=) c.2058T>A (p.Ala686=) | |
| X | g.20155495G>A | CA412512085 | RPS6KA3 | c.2126C>T (p.Ala709Val) c.2039C>T (p.Ala680Val) c.2042C>T (p.Ala681Val) c.1744C>T (n.1744C>T) c.*1347C>T (n.*1347C>T) n.793C>T c.2123C>T (p.Ala708Val) c.2036C>T (p.Ala679Val) c.2144C>T (p.Ala715Val) c.2141C>T (p.Ala714Val) c.2060C>T (p.Ala687Val) c.2057C>T (p.Ala686Val) | |
| X | g.20155495G>C | CA412512087 | RPS6KA3 | c.2126C>G (p.Ala709Gly) c.2039C>G (p.Ala680Gly) c.2042C>G (p.Ala681Gly) c.1744C>G (n.1744C>G) c.*1347C>G (n.*1347C>G) n.793C>G c.2123C>G (p.Ala708Gly) c.2036C>G (p.Ala679Gly) c.2144C>G (p.Ala715Gly) c.2141C>G (p.Ala714Gly) c.2060C>G (p.Ala687Gly) c.2057C>G (p.Ala686Gly) | |
| X | g.20155495G>T | CA412512090 | RPS6KA3 | c.2126C>A (p.Ala709Asp) c.2039C>A (p.Ala680Asp) c.2042C>A (p.Ala681Asp) c.1744C>A (n.1744C>A) c.*1347C>A (n.*1347C>A) n.793C>A c.2123C>A (p.Ala708Asp) c.2036C>A (p.Ala679Asp) c.2144C>A (p.Ala715Asp) c.2141C>A (p.Ala714Asp) c.2060C>A (p.Ala687Asp) c.2057C>A (p.Ala686Asp) | |
| X | g.20155496C>A | CA412512092 | RPS6KA3 | c.2125G>T (p.Ala709Ser) c.2038G>T (p.Ala680Ser) c.2041G>T (p.Ala681Ser) c.1743G>T (n.1743G>T) c.*1346G>T (n.*1346G>T) n.792G>T c.2122G>T (p.Ala708Ser) c.2035G>T (p.Ala679Ser) c.2143G>T (p.Ala715Ser) c.2140G>T (p.Ala714Ser) c.2059G>T (p.Ala687Ser) c.2056G>T (p.Ala686Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155496C= | CA2418502970 | RPS6KA3 | c.2125G= (p.Ala709=) c.2038G= (p.Ala680=) c.2041G= (p.Ala681=) c.1743G= (n.1743G=) c.*1346G= (n.*1346G=) n.792G= c.2122G= (p.Ala708=) c.2035G= (p.Ala679=) c.2143G= (p.Ala715=) c.2140G= (p.Ala714=) c.2059G= (p.Ala687=) c.2056G= (p.Ala686=) | |
| X | g.20155496C>G | CA412512093 | RPS6KA3 | c.2125G>C (p.Ala709Pro) c.2038G>C (p.Ala680Pro) c.2041G>C (p.Ala681Pro) c.1743G>C (n.1743G>C) c.*1346G>C (n.*1346G>C) n.792G>C c.2122G>C (p.Ala708Pro) c.2035G>C (p.Ala679Pro) c.2143G>C (p.Ala715Pro) c.2140G>C (p.Ala714Pro) c.2059G>C (p.Ala687Pro) c.2056G>C (p.Ala686Pro) | |
| X | g.20155496C>T | CA412512095 | RPS6KA3 | c.2125G>A (p.Ala709Thr) c.2038G>A (p.Ala680Thr) c.2041G>A (p.Ala681Thr) c.1743G>A (n.1743G>A) c.*1346G>A (n.*1346G>A) n.792G>A c.2122G>A (p.Ala708Thr) c.2035G>A (p.Ala679Thr) c.2143G>A (p.Ala715Thr) c.2140G>A (p.Ala714Thr) c.2059G>A (p.Ala687Thr) c.2056G>A (p.Ala686Thr) | |
| X | g.20155497A>C | CA515613340 | RPS6KA3 | c.2124T>G (p.Ser708=) c.2037T>G (p.Ser679=) c.2040T>G (p.Ser680=) c.1742T>G (n.1742T>G) c.*1345T>G (n.*1345T>G) n.791T>G c.2121T>G (p.Ser707=) c.2034T>G (p.Ser678=) c.2142T>G (p.Ser714=) c.2139T>G (p.Ser713=) c.2058T>G (p.Ser686=) c.2055T>G (p.Ser685=) | |
| X | g.20155497A>G | CA515613339 | RPS6KA3 | c.2124T>C (p.Ser708=) c.2037T>C (p.Ser679=) c.2040T>C (p.Ser680=) c.1742T>C (n.1742T>C) c.*1345T>C (n.*1345T>C) n.791T>C c.2121T>C (p.Ser707=) c.2034T>C (p.Ser678=) c.2142T>C (p.Ser714=) c.2139T>C (p.Ser713=) c.2058T>C (p.Ser686=) c.2055T>C (p.Ser685=) | |
| X | g.20155497A>T | CA515613338 | RPS6KA3 | c.2124T>A (p.Ser708=) c.2037T>A (p.Ser679=) c.2040T>A (p.Ser680=) c.1742T>A (n.1742T>A) c.*1345T>A (n.*1345T>A) n.791T>A c.2121T>A (p.Ser707=) c.2034T>A (p.Ser678=) c.2142T>A (p.Ser714=) c.2139T>A (p.Ser713=) c.2058T>A (p.Ser686=) c.2055T>A (p.Ser685=) | |
| X | g.20155498G>A | CA412512100 | RPS6KA3 | c.2123C>T (p.Ser708Phe) c.2036C>T (p.Ser679Phe) c.2039C>T (p.Ser680Phe) c.1741C>T (n.1741C>T) c.*1344C>T (n.*1344C>T) n.790C>T c.2120C>T (p.Ser707Phe) c.2033C>T (p.Ser678Phe) c.2141C>T (p.Ser714Phe) c.2138C>T (p.Ser713Phe) c.2057C>T (p.Ser686Phe) c.2054C>T (p.Ser685Phe) | |
| X | g.20155498G>C | CA412512096 | RPS6KA3 | c.2123C>G (p.Ser708Cys) c.2036C>G (p.Ser679Cys) c.2039C>G (p.Ser680Cys) c.1741C>G (n.1741C>G) c.*1344C>G (n.*1344C>G) n.790C>G c.2120C>G (p.Ser707Cys) c.2033C>G (p.Ser678Cys) c.2141C>G (p.Ser714Cys) c.2138C>G (p.Ser713Cys) c.2057C>G (p.Ser686Cys) c.2054C>G (p.Ser685Cys) | |
| X | g.20155498G>T | CA412512098 | RPS6KA3 | c.2123C>A (p.Ser708Tyr) c.2036C>A (p.Ser679Tyr) c.2039C>A (p.Ser680Tyr) c.1741C>A (n.1741C>A) c.*1344C>A (n.*1344C>A) n.790C>A c.2120C>A (p.Ser707Tyr) c.2033C>A (p.Ser678Tyr) c.2141C>A (p.Ser714Tyr) c.2138C>A (p.Ser713Tyr) c.2057C>A (p.Ser686Tyr) c.2054C>A (p.Ser685Tyr) | |
| X | g.20155499A>C | CA412512102 | RPS6KA3 | c.2122T>G (p.Ser708Ala) c.2035T>G (p.Ser679Ala) c.2038T>G (p.Ser680Ala) c.1740T>G (n.1740T>G) c.*1343T>G (n.*1343T>G) n.789T>G c.2119T>G (p.Ser707Ala) c.2032T>G (p.Ser678Ala) c.2140T>G (p.Ser714Ala) c.2137T>G (p.Ser713Ala) c.2056T>G (p.Ser686Ala) c.2053T>G (p.Ser685Ala) | |
| X | g.20155499A>G | CA412512110 | RPS6KA3 | c.2122T>C (p.Ser708Pro) c.2035T>C (p.Ser679Pro) c.2038T>C (p.Ser680Pro) c.1740T>C (n.1740T>C) c.*1343T>C (n.*1343T>C) n.789T>C c.2119T>C (p.Ser707Pro) c.2032T>C (p.Ser678Pro) c.2140T>C (p.Ser714Pro) c.2137T>C (p.Ser713Pro) c.2056T>C (p.Ser686Pro) c.2053T>C (p.Ser685Pro) | |
| X | g.20155499A>T | CA412512112 | RPS6KA3 | c.2122T>A (p.Ser708Thr) c.2035T>A (p.Ser679Thr) c.2038T>A (p.Ser680Thr) c.1740T>A (n.1740T>A) c.*1343T>A (n.*1343T>A) n.789T>A c.2119T>A (p.Ser707Thr) c.2032T>A (p.Ser678Thr) c.2140T>A (p.Ser714Thr) c.2137T>A (p.Ser713Thr) c.2056T>A (p.Ser686Thr) c.2053T>A (p.Ser685Thr) | |
| X | g.20155500A>C | CA412512118 | RPS6KA3 | c.2121T>G (p.Tyr707Ter) c.2034T>G (p.Tyr678Ter) c.2037T>G (p.Tyr679Ter) c.1739T>G (n.1739T>G) c.*1342T>G (n.*1342T>G) n.788T>G c.2118T>G (p.Tyr706Ter) c.2031T>G (p.Tyr677Ter) c.2139T>G (p.Tyr713Ter) c.2136T>G (p.Tyr712Ter) c.2055T>G (p.Tyr685Ter) c.2052T>G (p.Tyr684Ter) | |
| X | g.20155500A>G | CA515613341 | RPS6KA3 | c.2121T>C (p.Tyr707=) c.2034T>C (p.Tyr678=) c.2037T>C (p.Tyr679=) c.1739T>C (n.1739T>C) c.*1342T>C (n.*1342T>C) n.788T>C c.2118T>C (p.Tyr706=) c.2031T>C (p.Tyr677=) c.2139T>C (p.Tyr713=) c.2136T>C (p.Tyr712=) c.2055T>C (p.Tyr685=) c.2052T>C (p.Tyr684=) | gnomAD v4 |
| X | g.20155500A>T | CA412512120 | RPS6KA3 | c.2121T>A (p.Tyr707Ter) c.2034T>A (p.Tyr678Ter) c.2037T>A (p.Tyr679Ter) c.1739T>A (n.1739T>A) c.*1342T>A (n.*1342T>A) n.788T>A c.2118T>A (p.Tyr706Ter) c.2031T>A (p.Tyr677Ter) c.2139T>A (p.Tyr713Ter) c.2136T>A (p.Tyr712Ter) c.2055T>A (p.Tyr685Ter) c.2052T>A (p.Tyr684Ter) | |
| X | g.20155501T>A | CA412512122 | RPS6KA3 | c.2120A>T (p.Tyr707Phe) c.2033A>T (p.Tyr678Phe) c.2036A>T (p.Tyr679Phe) c.1738A>T (n.1738A>T) c.*1341A>T (n.*1341A>T) n.787A>T c.2117A>T (p.Tyr706Phe) c.2030A>T (p.Tyr677Phe) c.2138A>T (p.Tyr713Phe) c.2135A>T (p.Tyr712Phe) c.2054A>T (p.Tyr685Phe) c.2051A>T (p.Tyr684Phe) | |
| X | g.20155501T>C | CA412512124 | RPS6KA3 | c.2120A>G (p.Tyr707Cys) c.2033A>G (p.Tyr678Cys) c.2036A>G (p.Tyr679Cys) c.1738A>G (n.1738A>G) c.*1341A>G (n.*1341A>G) n.787A>G c.2117A>G (p.Tyr706Cys) c.2030A>G (p.Tyr677Cys) c.2138A>G (p.Tyr713Cys) c.2135A>G (p.Tyr712Cys) c.2054A>G (p.Tyr685Cys) c.2051A>G (p.Tyr684Cys) | |
| X | g.20155501T>G | CA412512126 | RPS6KA3 | c.2120A>C (p.Tyr707Ser) c.2033A>C (p.Tyr678Ser) c.2036A>C (p.Tyr679Ser) c.1738A>C (n.1738A>C) c.*1341A>C (n.*1341A>C) n.787A>C c.2117A>C (p.Tyr706Ser) c.2030A>C (p.Tyr677Ser) c.2138A>C (p.Tyr713Ser) c.2135A>C (p.Tyr712Ser) c.2054A>C (p.Tyr685Ser) c.2051A>C (p.Tyr684Ser) | |
| X | g.20155502A>C | CA412512129 | RPS6KA3 | c.2119T>G (p.Tyr707Asp) c.2032T>G (p.Tyr678Asp) c.2035T>G (p.Tyr679Asp) c.1737T>G (n.1737T>G) c.*1340T>G (n.*1340T>G) n.786T>G c.2116T>G (p.Tyr706Asp) c.2029T>G (p.Tyr677Asp) c.2137T>G (p.Tyr713Asp) c.2134T>G (p.Tyr712Asp) c.2053T>G (p.Tyr685Asp) c.2050T>G (p.Tyr684Asp) | |
| X | g.20155502A>G | CA412512130 | RPS6KA3 | c.2119T>C (p.Tyr707His) c.2032T>C (p.Tyr678His) c.2035T>C (p.Tyr679His) c.1737T>C (n.1737T>C) c.*1340T>C (n.*1340T>C) n.786T>C c.2116T>C (p.Tyr706His) c.2029T>C (p.Tyr677His) c.2137T>C (p.Tyr713His) c.2134T>C (p.Tyr712His) c.2053T>C (p.Tyr685His) c.2050T>C (p.Tyr684His) | |
| X | g.20155502A>T | CA412512132 | RPS6KA3 | c.2119T>A (p.Tyr707Asn) c.2032T>A (p.Tyr678Asn) c.2035T>A (p.Tyr679Asn) c.1737T>A (n.1737T>A) c.*1340T>A (n.*1340T>A) n.786T>A c.2116T>A (p.Tyr706Asn) c.2029T>A (p.Tyr677Asn) c.2137T>A (p.Tyr713Asn) c.2134T>A (p.Tyr712Asn) c.2053T>A (p.Tyr685Asn) c.2050T>A (p.Tyr684Asn) | |
| X | g.20155503T>A | CA515613342 | RPS6KA3 | c.2118A>T (p.Thr706=) c.2031A>T (p.Thr677=) c.2034A>T (p.Thr678=) c.1736A>T (n.1736A>T) c.*1339A>T (n.*1339A>T) n.785A>T c.2115A>T (p.Thr705=) c.2028A>T (p.Thr676=) c.2136A>T (p.Thr712=) c.2133A>T (p.Thr711=) c.2052A>T (p.Thr684=) c.2049A>T (p.Thr683=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155503T>C | CA327473503 | RPS6KA3 | c.2118A>G (p.Thr706=) c.2031A>G (p.Thr677=) c.2034A>G (p.Thr678=) c.1736A>G (n.1736A>G) c.*1339A>G (n.*1339A>G) n.785A>G c.2115A>G (p.Thr705=) c.2028A>G (p.Thr676=) c.2136A>G (p.Thr712=) c.2133A>G (p.Thr711=) c.2052A>G (p.Thr684=) c.2049A>G (p.Thr683=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155503T>G | CA515613343 | RPS6KA3 | c.2118A>C (p.Thr706=) c.2031A>C (p.Thr677=) c.2034A>C (p.Thr678=) c.1736A>C (n.1736A>C) c.*1339A>C (n.*1339A>C) n.785A>C c.2115A>C (p.Thr705=) c.2028A>C (p.Thr676=) c.2136A>C (p.Thr712=) c.2133A>C (p.Thr711=) c.2052A>C (p.Thr684=) c.2049A>C (p.Thr683=) | |
| X | g.20155503T= | CA2418502971 | RPS6KA3 | c.2118A= (p.Thr706=) c.2031A= (p.Thr677=) c.2034A= (p.Thr678=) c.1736A= (n.1736A=) c.*1339A= (n.*1339A=) n.785A= c.2115A= (p.Thr705=) c.2028A= (p.Thr676=) c.2136A= (p.Thr712=) c.2133A= (p.Thr711=) c.2052A= (p.Thr684=) c.2049A= (p.Thr683=) | |
| X | g.20155504G>A | CA412512137 | RPS6KA3 | c.2117C>T (p.Thr706Ile) c.2030C>T (p.Thr677Ile) c.2033C>T (p.Thr678Ile) c.1735C>T (n.1735C>T) c.*1338C>T (n.*1338C>T) n.784C>T c.2114C>T (p.Thr705Ile) c.2027C>T (p.Thr676Ile) c.2135C>T (p.Thr712Ile) c.2132C>T (p.Thr711Ile) c.2051C>T (p.Thr684Ile) c.2048C>T (p.Thr683Ile) | |
| X | g.20155504G>C | CA412512133 | RPS6KA3 | c.2117C>G (p.Thr706Arg) c.2030C>G (p.Thr677Arg) c.2033C>G (p.Thr678Arg) c.1735C>G (n.1735C>G) c.*1338C>G (n.*1338C>G) n.784C>G c.2114C>G (p.Thr705Arg) c.2027C>G (p.Thr676Arg) c.2135C>G (p.Thr712Arg) c.2132C>G (p.Thr711Arg) c.2051C>G (p.Thr684Arg) c.2048C>G (p.Thr683Arg) | |
| X | g.20155504G>T | CA412512135 | RPS6KA3 | c.2117C>A (p.Thr706Lys) c.2030C>A (p.Thr677Lys) c.2033C>A (p.Thr678Lys) c.1735C>A (n.1735C>A) c.*1338C>A (n.*1338C>A) n.784C>A c.2114C>A (p.Thr705Lys) c.2027C>A (p.Thr676Lys) c.2135C>A (p.Thr712Lys) c.2132C>A (p.Thr711Lys) c.2051C>A (p.Thr684Lys) c.2048C>A (p.Thr683Lys) | |
| X | g.20155505T>A | CA412512138 | RPS6KA3 | c.2116A>T (p.Thr706Ser) c.2029A>T (p.Thr677Ser) c.2032A>T (p.Thr678Ser) c.1734A>T (n.1734A>T) c.*1337A>T (n.*1337A>T) n.783A>T c.2113A>T (p.Thr705Ser) c.2026A>T (p.Thr676Ser) c.2134A>T (p.Thr712Ser) c.2131A>T (p.Thr711Ser) c.2050A>T (p.Thr684Ser) c.2047A>T (p.Thr683Ser) | |
| X | g.20155505T>C | CA412512140 | RPS6KA3 | c.2116A>G (p.Thr706Ala) c.2029A>G (p.Thr677Ala) c.2032A>G (p.Thr678Ala) c.1734A>G (n.1734A>G) c.*1337A>G (n.*1337A>G) n.783A>G c.2113A>G (p.Thr705Ala) c.2026A>G (p.Thr676Ala) c.2134A>G (p.Thr712Ala) c.2131A>G (p.Thr711Ala) c.2050A>G (p.Thr684Ala) c.2047A>G (p.Thr683Ala) | |
| X | g.20155505T>G | CA412512139 | RPS6KA3 | c.2116A>C (p.Thr706Pro) c.2029A>C (p.Thr677Pro) c.2032A>C (p.Thr678Pro) c.1734A>C (n.1734A>C) c.*1337A>C (n.*1337A>C) n.783A>C c.2113A>C (p.Thr705Pro) c.2026A>C (p.Thr676Pro) c.2134A>C (p.Thr712Pro) c.2131A>C (p.Thr711Pro) c.2050A>C (p.Thr684Pro) c.2047A>C (p.Thr683Pro) | |
| X | g.20155506A>C | CA515613345 | RPS6KA3 | c.2115T>G (p.Ala705=) c.2028T>G (p.Ala676=) c.2031T>G (p.Ala677=) c.1733T>G (n.1733T>G) c.*1336T>G (n.*1336T>G) n.782T>G c.2112T>G (p.Ala704=) c.2025T>G (p.Ala675=) c.2133T>G (p.Ala711=) c.2130T>G (p.Ala710=) c.2049T>G (p.Ala683=) c.2046T>G (p.Ala682=) | |
| X | g.20155506A>G | CA515613344 | RPS6KA3 | c.2115T>C (p.Ala705=) c.2028T>C (p.Ala676=) c.2031T>C (p.Ala677=) c.1733T>C (n.1733T>C) c.*1336T>C (n.*1336T>C) n.782T>C c.2112T>C (p.Ala704=) c.2025T>C (p.Ala675=) c.2133T>C (p.Ala711=) c.2130T>C (p.Ala710=) c.2049T>C (p.Ala683=) c.2046T>C (p.Ala682=) | |
| X | g.20155506A>T | CA515613346 | RPS6KA3 | c.2115T>A (p.Ala705=) c.2028T>A (p.Ala676=) c.2031T>A (p.Ala677=) c.1733T>A (n.1733T>A) c.*1336T>A (n.*1336T>A) n.782T>A c.2112T>A (p.Ala704=) c.2025T>A (p.Ala675=) c.2133T>A (p.Ala711=) c.2130T>A (p.Ala710=) c.2049T>A (p.Ala683=) c.2046T>A (p.Ala682=) | COSMIC |
| X | g.20155507G>A | CA412512141 | RPS6KA3 | c.2114C>T (p.Ala705Val) c.2027C>T (p.Ala676Val) c.2030C>T (p.Ala677Val) c.1732C>T (n.1732C>T) c.*1335C>T (n.*1335C>T) n.781C>T c.2111C>T (p.Ala704Val) c.2024C>T (p.Ala675Val) c.2132C>T (p.Ala711Val) c.2129C>T (p.Ala710Val) c.2048C>T (p.Ala683Val) c.2045C>T (p.Ala682Val) | |
| X | g.20155507G>C | CA412512143 | RPS6KA3 | c.2114C>G (p.Ala705Gly) c.2027C>G (p.Ala676Gly) c.2030C>G (p.Ala677Gly) c.1732C>G (n.1732C>G) c.*1335C>G (n.*1335C>G) n.781C>G c.2111C>G (p.Ala704Gly) c.2024C>G (p.Ala675Gly) c.2132C>G (p.Ala711Gly) c.2129C>G (p.Ala710Gly) c.2048C>G (p.Ala683Gly) c.2045C>G (p.Ala682Gly) | |
| X | g.20155507G>T | CA412512142 | RPS6KA3 | c.2114C>A (p.Ala705Asp) c.2027C>A (p.Ala676Asp) c.2030C>A (p.Ala677Asp) c.1732C>A (n.1732C>A) c.*1335C>A (n.*1335C>A) n.781C>A c.2111C>A (p.Ala704Asp) c.2024C>A (p.Ala675Asp) c.2132C>A (p.Ala711Asp) c.2129C>A (p.Ala710Asp) c.2048C>A (p.Ala683Asp) c.2045C>A (p.Ala682Asp) | |
| X | g.20155508C>A | CA412512144 | RPS6KA3 | c.2113G>T (p.Ala705Ser) c.2026G>T (p.Ala676Ser) c.2029G>T (p.Ala677Ser) c.1731G>T (n.1731G>T) c.*1334G>T (n.*1334G>T) n.780G>T c.2110G>T (p.Ala704Ser) c.2023G>T (p.Ala675Ser) c.2131G>T (p.Ala711Ser) c.2128G>T (p.Ala710Ser) c.2047G>T (p.Ala683Ser) c.2044G>T (p.Ala682Ser) | |
| X | g.20155508C>G | CA412512145 | RPS6KA3 | c.2113G>C (p.Ala705Pro) c.2026G>C (p.Ala676Pro) c.2029G>C (p.Ala677Pro) c.1731G>C (n.1731G>C) c.*1334G>C (n.*1334G>C) n.780G>C c.2110G>C (p.Ala704Pro) c.2023G>C (p.Ala675Pro) c.2131G>C (p.Ala711Pro) c.2128G>C (p.Ala710Pro) c.2047G>C (p.Ala683Pro) c.2044G>C (p.Ala682Pro) | |
| X | g.20155508C>T | CA412512146 | RPS6KA3 | c.2113G>A (p.Ala705Thr) c.2026G>A (p.Ala676Thr) c.2029G>A (p.Ala677Thr) c.1731G>A (n.1731G>A) c.*1334G>A (n.*1334G>A) n.780G>A c.2110G>A (p.Ala704Thr) c.2023G>A (p.Ala675Thr) c.2131G>A (p.Ala711Thr) c.2128G>A (p.Ala710Thr) c.2047G>A (p.Ala683Thr) c.2044G>A (p.Ala682Thr) | |
| X | g.20155509T>A | CA515613347 | RPS6KA3 | c.2112A>T (p.Ala704=) c.2025A>T (p.Ala675=) c.2028A>T (p.Ala676=) c.1730A>T (n.1730A>T) c.*1333A>T (n.*1333A>T) n.779A>T c.2109A>T (p.Ala703=) c.2022A>T (p.Ala674=) c.2130A>T (p.Ala710=) c.2127A>T (p.Ala709=) c.2046A>T (p.Ala682=) c.2043A>T (p.Ala681=) | |
| X | g.20155509T>C | CA515613349 | RPS6KA3 | c.2112A>G (p.Ala704=) c.2025A>G (p.Ala675=) c.2028A>G (p.Ala676=) c.1730A>G (n.1730A>G) c.*1333A>G (n.*1333A>G) n.779A>G c.2109A>G (p.Ala703=) c.2022A>G (p.Ala674=) c.2130A>G (p.Ala710=) c.2127A>G (p.Ala709=) c.2046A>G (p.Ala682=) c.2043A>G (p.Ala681=) | |
| X | g.20155509T>G | CA515613348 | RPS6KA3 | c.2112A>C (p.Ala704=) c.2025A>C (p.Ala675=) c.2028A>C (p.Ala676=) c.1730A>C (n.1730A>C) c.*1333A>C (n.*1333A>C) n.779A>C c.2109A>C (p.Ala703=) c.2022A>C (p.Ala674=) c.2130A>C (p.Ala710=) c.2127A>C (p.Ala709=) c.2046A>C (p.Ala682=) c.2043A>C (p.Ala681=) | |
| X | g.20155510G>A | CA412512147 | RPS6KA3 | c.2111C>T (p.Ala704Val) c.2024C>T (p.Ala675Val) c.2027C>T (p.Ala676Val) c.1729C>T (n.1729C>T) c.*1332C>T (n.*1332C>T) n.778C>T c.2108C>T (p.Ala703Val) c.2021C>T (p.Ala674Val) c.2129C>T (p.Ala710Val) c.2126C>T (p.Ala709Val) c.2045C>T (p.Ala682Val) c.2042C>T (p.Ala681Val) | |
| X | g.20155510G>C | CA412512148 | RPS6KA3 | c.2111C>G (p.Ala704Gly) c.2024C>G (p.Ala675Gly) c.2027C>G (p.Ala676Gly) c.1729C>G (n.1729C>G) c.*1332C>G (n.*1332C>G) n.778C>G c.2108C>G (p.Ala703Gly) c.2021C>G (p.Ala674Gly) c.2129C>G (p.Ala710Gly) c.2126C>G (p.Ala709Gly) c.2045C>G (p.Ala682Gly) c.2042C>G (p.Ala681Gly) | |
| X | g.20155510G>T | CA412512149 | RPS6KA3 | c.2111C>A (p.Ala704Glu) c.2024C>A (p.Ala675Glu) c.2027C>A (p.Ala676Glu) c.1729C>A (n.1729C>A) c.*1332C>A (n.*1332C>A) n.778C>A c.2108C>A (p.Ala703Glu) c.2021C>A (p.Ala674Glu) c.2129C>A (p.Ala710Glu) c.2126C>A (p.Ala709Glu) c.2045C>A (p.Ala682Glu) c.2042C>A (p.Ala681Glu) | gnomAD v4 |
| X | g.20155511C>A | CA412512152 | RPS6KA3 | c.2110G>T (p.Ala704Ser) c.2023G>T (p.Ala675Ser) c.2026G>T (p.Ala676Ser) c.1728G>T (n.1728G>T) c.*1331G>T (n.*1331G>T) n.777G>T c.2107G>T (p.Ala703Ser) c.2020G>T (p.Ala674Ser) c.2128G>T (p.Ala710Ser) c.2125G>T (p.Ala709Ser) c.2044G>T (p.Ala682Ser) c.2041G>T (p.Ala681Ser) | |
| X | g.20155511C>G | CA412512151 | RPS6KA3 | c.2110G>C (p.Ala704Pro) c.2023G>C (p.Ala675Pro) c.2026G>C (p.Ala676Pro) c.1728G>C (n.1728G>C) c.*1331G>C (n.*1331G>C) n.777G>C c.2107G>C (p.Ala703Pro) c.2020G>C (p.Ala674Pro) c.2128G>C (p.Ala710Pro) c.2125G>C (p.Ala709Pro) c.2044G>C (p.Ala682Pro) c.2041G>C (p.Ala681Pro) | |
| X | g.20155511C>T | CA412512150 | RPS6KA3 | c.2110G>A (p.Ala704Thr) c.2023G>A (p.Ala675Thr) c.2026G>A (p.Ala676Thr) c.1728G>A (n.1728G>A) c.*1331G>A (n.*1331G>A) n.777G>A c.2107G>A (p.Ala703Thr) c.2020G>A (p.Ala674Thr) c.2128G>A (p.Ala710Thr) c.2125G>A (p.Ala709Thr) c.2044G>A (p.Ala682Thr) c.2041G>A (p.Ala681Thr) | |
| X | g.20155513_20155520del | CA645601234 | RPS6KA3 | c.2103_2110del (p.Ala702SerfsTer9) c.2016_2023del (p.Ala673SerfsTer9) c.2019_2026del (p.Ala674SerfsTer9) c.1721_1728del (n.1721_1728del) c.*1324_*1331del (n.*1324_*1331del) n.770_777del c.2100_2107del (p.Ala701SerfsTer9) c.2013_2020del (p.Ala672SerfsTer9) c.2121_2128del (p.Ala708SerfsTer9) c.2118_2125del (p.Ala707SerfsTer9) c.2037_2044del (p.Ala680SerfsTer9) c.2034_2041del (p.Ala679SerfsTer9) | COSMIC |
| X | g.20155512C>A | CA412512153 | RPS6KA3 | c.2109G>T (p.Met703Ile) c.2022G>T (p.Met674Ile) c.2025G>T (p.Met675Ile) c.1727G>T (n.1727G>T) c.*1330G>T (n.*1330G>T) n.776G>T c.2106G>T (p.Met702Ile) c.2019G>T (p.Met673Ile) c.2127G>T (p.Met709Ile) c.2124G>T (p.Met708Ile) c.2043G>T (p.Met681Ile) c.2040G>T (p.Met680Ile) | |
| X | g.20155512C>G | CA412512154 | RPS6KA3 | c.2109G>C (p.Met703Ile) c.2022G>C (p.Met674Ile) c.2025G>C (p.Met675Ile) c.1727G>C (n.1727G>C) c.*1330G>C (n.*1330G>C) n.776G>C c.2106G>C (p.Met702Ile) c.2019G>C (p.Met673Ile) c.2127G>C (p.Met709Ile) c.2124G>C (p.Met708Ile) c.2043G>C (p.Met681Ile) c.2040G>C (p.Met680Ile) | |
| X | g.20155512C>T | CA412512155 | RPS6KA3 | c.2109G>A (p.Met703Ile) c.2022G>A (p.Met674Ile) c.2025G>A (p.Met675Ile) c.1727G>A (n.1727G>A) c.*1330G>A (n.*1330G>A) n.776G>A c.2106G>A (p.Met702Ile) c.2019G>A (p.Met673Ile) c.2127G>A (p.Met709Ile) c.2124G>A (p.Met708Ile) c.2043G>A (p.Met681Ile) c.2040G>A (p.Met680Ile) | |
| X | g.20155513A>C | CA412512156 | RPS6KA3 | c.2108T>G (p.Met703Arg) c.2021T>G (p.Met674Arg) c.2024T>G (p.Met675Arg) c.1726T>G (n.1726T>G) c.*1329T>G (n.*1329T>G) n.775T>G c.2105T>G (p.Met702Arg) c.2018T>G (p.Met673Arg) c.2126T>G (p.Met709Arg) c.2123T>G (p.Met708Arg) c.2042T>G (p.Met681Arg) c.2039T>G (p.Met680Arg) | |
| X | g.20155513A>G | CA412512157 | RPS6KA3 | c.2108T>C (p.Met703Thr) c.2021T>C (p.Met674Thr) c.2024T>C (p.Met675Thr) c.1726T>C (n.1726T>C) c.*1329T>C (n.*1329T>C) n.775T>C c.2105T>C (p.Met702Thr) c.2018T>C (p.Met673Thr) c.2126T>C (p.Met709Thr) c.2123T>C (p.Met708Thr) c.2042T>C (p.Met681Thr) c.2039T>C (p.Met680Thr) | |
| X | g.20155513A>T | CA412512158 | RPS6KA3 | c.2108T>A (p.Met703Lys) c.2021T>A (p.Met674Lys) c.2024T>A (p.Met675Lys) c.1726T>A (n.1726T>A) c.*1329T>A (n.*1329T>A) n.775T>A c.2105T>A (p.Met702Lys) c.2018T>A (p.Met673Lys) c.2126T>A (p.Met709Lys) c.2123T>A (p.Met708Lys) c.2042T>A (p.Met681Lys) c.2039T>A (p.Met680Lys) | |
| X | g.20155514T>A | CA412512159 | RPS6KA3 | c.2107A>T (p.Met703Leu) c.2020A>T (p.Met674Leu) c.2023A>T (p.Met675Leu) c.1725A>T (n.1725A>T) c.*1328A>T (n.*1328A>T) n.774A>T c.2104A>T (p.Met702Leu) c.2017A>T (p.Met673Leu) c.2125A>T (p.Met709Leu) c.2122A>T (p.Met708Leu) c.2041A>T (p.Met681Leu) c.2038A>T (p.Met680Leu) | |
| X | g.20155514T>C | CA412512161 | RPS6KA3 | c.2107A>G (p.Met703Val) c.2020A>G (p.Met674Val) c.2023A>G (p.Met675Val) c.1725A>G (n.1725A>G) c.*1328A>G (n.*1328A>G) n.774A>G c.2104A>G (p.Met702Val) c.2017A>G (p.Met673Val) c.2125A>G (p.Met709Val) c.2122A>G (p.Met708Val) c.2041A>G (p.Met681Val) c.2038A>G (p.Met680Val) | |
| X | g.20155514T>G | CA412512160 | RPS6KA3 | c.2107A>C (p.Met703Leu) c.2020A>C (p.Met674Leu) c.2023A>C (p.Met675Leu) c.1725A>C (n.1725A>C) c.*1328A>C (n.*1328A>C) n.774A>C c.2104A>C (p.Met702Leu) c.2017A>C (p.Met673Leu) c.2125A>C (p.Met709Leu) c.2122A>C (p.Met708Leu) c.2041A>C (p.Met681Leu) c.2038A>C (p.Met680Leu) | |
| X | g.20155515G>A | CA515613350 | RPS6KA3 | c.2106C>T (p.Ala702=) c.2019C>T (p.Ala673=) c.2022C>T (p.Ala674=) c.1724C>T (n.1724C>T) c.*1327C>T (n.*1327C>T) n.773C>T c.2103C>T (p.Ala701=) c.2016C>T (p.Ala672=) c.2124C>T (p.Ala708=) c.2121C>T (p.Ala707=) c.2040C>T (p.Ala680=) c.2037C>T (p.Ala679=) | |
| X | g.20155515G>C | CA515613351 | RPS6KA3 | c.2106C>G (p.Ala702=) c.2019C>G (p.Ala673=) c.2022C>G (p.Ala674=) c.1724C>G (n.1724C>G) c.*1327C>G (n.*1327C>G) n.773C>G c.2103C>G (p.Ala701=) c.2016C>G (p.Ala672=) c.2124C>G (p.Ala708=) c.2121C>G (p.Ala707=) c.2040C>G (p.Ala680=) c.2037C>G (p.Ala679=) | dbSNP gnomAD v4 |
| X | g.20155515G= | CA2418502972 | RPS6KA3 | c.2106C= (p.Ala702=) c.2019C= (p.Ala673=) c.2022C= (p.Ala674=) c.1724C= (n.1724C=) c.*1327C= (n.*1327C=) n.773C= c.2103C= (p.Ala701=) c.2016C= (p.Ala672=) c.2124C= (p.Ala708=) c.2121C= (p.Ala707=) c.2040C= (p.Ala680=) c.2037C= (p.Ala679=) | |
| X | g.20155515G>T | CA515613352 | RPS6KA3 | c.2106C>A (p.Ala702=) c.2019C>A (p.Ala673=) c.2022C>A (p.Ala674=) c.1724C>A (n.1724C>A) c.*1327C>A (n.*1327C>A) n.773C>A c.2103C>A (p.Ala701=) c.2016C>A (p.Ala672=) c.2124C>A (p.Ala708=) c.2121C>A (p.Ala707=) c.2040C>A (p.Ala680=) c.2037C>A (p.Ala679=) | |
| X | g.20155516G>A | CA412512162 | RPS6KA3 | c.2105C>T (p.Ala702Val) c.2018C>T (p.Ala673Val) c.2021C>T (p.Ala674Val) c.1723C>T (n.1723C>T) c.*1326C>T (n.*1326C>T) n.772C>T c.2102C>T (p.Ala701Val) c.2015C>T (p.Ala672Val) c.2123C>T (p.Ala708Val) c.2120C>T (p.Ala707Val) c.2039C>T (p.Ala680Val) c.2036C>T (p.Ala679Val) | |
| X | g.20155516G>C | CA412512163 | RPS6KA3 | c.2105C>G (p.Ala702Gly) c.2018C>G (p.Ala673Gly) c.2021C>G (p.Ala674Gly) c.1723C>G (n.1723C>G) c.*1326C>G (n.*1326C>G) n.772C>G c.2102C>G (p.Ala701Gly) c.2015C>G (p.Ala672Gly) c.2123C>G (p.Ala708Gly) c.2120C>G (p.Ala707Gly) c.2039C>G (p.Ala680Gly) c.2036C>G (p.Ala679Gly) | |
| X | g.20155516G>T | CA412512164 | RPS6KA3 | c.2105C>A (p.Ala702Asp) c.2018C>A (p.Ala673Asp) c.2021C>A (p.Ala674Asp) c.1723C>A (n.1723C>A) c.*1326C>A (n.*1326C>A) n.772C>A c.2102C>A (p.Ala701Asp) c.2015C>A (p.Ala672Asp) c.2123C>A (p.Ala708Asp) c.2120C>A (p.Ala707Asp) c.2039C>A (p.Ala680Asp) c.2036C>A (p.Ala679Asp) | gnomAD v4 |
| X | g.20155516_20155519dup | CA2695231688 | RPS6KA3 | c.2102_2105dup (p.Met703CysfsTer12) c.2015_2018dup (p.Met674CysfsTer12) c.2018_2021dup (p.Met675CysfsTer12) c.1720_1723dup (n.1720_1723dup) c.*1323_*1326dup (n.*1323_*1326dup) n.769_772dup c.2099_2102dup (p.Met702CysfsTer12) c.2012_2015dup (p.Met673CysfsTer12) c.2120_2123dup (p.Met709CysfsTer12) c.2117_2120dup (p.Met708CysfsTer12) c.2036_2039dup (p.Met681CysfsTer12) c.2033_2036dup (p.Met680CysfsTer12) | |
| X | g.20155517C>A | CA412512165 | RPS6KA3 | c.2104G>T (p.Ala702Ser) c.2017G>T (p.Ala673Ser) c.2020G>T (p.Ala674Ser) c.1722G>T (n.1722G>T) c.*1325G>T (n.*1325G>T) n.771G>T c.2101G>T (p.Ala701Ser) c.2014G>T (p.Ala672Ser) c.2122G>T (p.Ala708Ser) c.2119G>T (p.Ala707Ser) c.2038G>T (p.Ala680Ser) c.2035G>T (p.Ala679Ser) | |
| X | g.20155517C>G | CA412512166 | RPS6KA3 | c.2104G>C (p.Ala702Pro) c.2017G>C (p.Ala673Pro) c.2020G>C (p.Ala674Pro) c.1722G>C (n.1722G>C) c.*1325G>C (n.*1325G>C) n.771G>C c.2101G>C (p.Ala701Pro) c.2014G>C (p.Ala672Pro) c.2122G>C (p.Ala708Pro) c.2119G>C (p.Ala707Pro) c.2038G>C (p.Ala680Pro) c.2035G>C (p.Ala679Pro) | |
| X | g.20155517C>T | CA412512167 | RPS6KA3 | c.2104G>A (p.Ala702Thr) c.2017G>A (p.Ala673Thr) c.2020G>A (p.Ala674Thr) c.1722G>A (n.1722G>A) c.*1325G>A (n.*1325G>A) n.771G>A c.2101G>A (p.Ala701Thr) c.2014G>A (p.Ala672Thr) c.2122G>A (p.Ala708Thr) c.2119G>A (p.Ala707Thr) c.2038G>A (p.Ala680Thr) c.2035G>A (p.Ala679Thr) | |
| X | g.20155518A>C | CA515613354 | RPS6KA3 | c.2103T>G (p.Gly701=) c.2016T>G (p.Gly672=) c.2019T>G (p.Gly673=) c.1721T>G (n.1721T>G) c.*1324T>G (n.*1324T>G) n.770T>G c.2100T>G (p.Gly700=) c.2013T>G (p.Gly671=) c.2121T>G (p.Gly707=) c.2118T>G (p.Gly706=) c.2037T>G (p.Gly679=) c.2034T>G (p.Gly678=) | |
| X | g.20155518A>G | CA515613355 | RPS6KA3 | c.2103T>C (p.Gly701=) c.2016T>C (p.Gly672=) c.2019T>C (p.Gly673=) c.1721T>C (n.1721T>C) c.*1324T>C (n.*1324T>C) n.770T>C c.2100T>C (p.Gly700=) c.2013T>C (p.Gly671=) c.2121T>C (p.Gly707=) c.2118T>C (p.Gly706=) c.2037T>C (p.Gly679=) c.2034T>C (p.Gly678=) | |
| X | g.20155518A>T | CA515613353 | RPS6KA3 | c.2103T>A (p.Gly701=) c.2016T>A (p.Gly672=) c.2019T>A (p.Gly673=) c.1721T>A (n.1721T>A) c.*1324T>A (n.*1324T>A) n.770T>A c.2100T>A (p.Gly700=) c.2013T>A (p.Gly671=) c.2121T>A (p.Gly707=) c.2118T>A (p.Gly706=) c.2037T>A (p.Gly679=) c.2034T>A (p.Gly678=) | |
| X | g.20155519C>A | CA412512169 | RPS6KA3 | c.2102G>T (p.Gly701Val) c.2015G>T (p.Gly672Val) c.2018G>T (p.Gly673Val) c.1720G>T (n.1720G>T) c.*1323G>T (n.*1323G>T) n.769G>T c.2099G>T (p.Gly700Val) c.2012G>T (p.Gly671Val) c.2120G>T (p.Gly707Val) c.2117G>T (p.Gly706Val) c.2036G>T (p.Gly679Val) c.2033G>T (p.Gly678Val) | |
| X | g.20155519C>G | CA412512170 | RPS6KA3 | c.2102G>C (p.Gly701Ala) c.2015G>C (p.Gly672Ala) c.2018G>C (p.Gly673Ala) c.1720G>C (n.1720G>C) c.*1323G>C (n.*1323G>C) n.769G>C c.2099G>C (p.Gly700Ala) c.2012G>C (p.Gly671Ala) c.2120G>C (p.Gly707Ala) c.2117G>C (p.Gly706Ala) c.2036G>C (p.Gly679Ala) c.2033G>C (p.Gly678Ala) | |
| X | g.20155519C>T | CA412512171 | RPS6KA3 | c.2102G>A (p.Gly701Asp) c.2015G>A (p.Gly672Asp) c.2018G>A (p.Gly673Asp) c.1720G>A (n.1720G>A) c.*1323G>A (n.*1323G>A) n.769G>A c.2099G>A (p.Gly700Asp) c.2012G>A (p.Gly671Asp) c.2120G>A (p.Gly707Asp) c.2117G>A (p.Gly706Asp) c.2036G>A (p.Gly679Asp) c.2033G>A (p.Gly678Asp) | ClinVar dbSNP |
| X | g.20155520C>A | CA412512172 | RPS6KA3 | c.2101G>T (p.Gly701Cys) c.2014G>T (p.Gly672Cys) c.2017G>T (p.Gly673Cys) c.1719G>T (n.1719G>T) c.*1322G>T (n.*1322G>T) n.768G>T c.2098G>T (p.Gly700Cys) c.2011G>T (p.Gly671Cys) c.2119G>T (p.Gly707Cys) c.2116G>T (p.Gly706Cys) c.2035G>T (p.Gly679Cys) c.2032G>T (p.Gly678Cys) | |
| X | g.20155520C>G | CA412512173 | RPS6KA3 | c.2101G>C (p.Gly701Arg) c.2014G>C (p.Gly672Arg) c.2017G>C (p.Gly673Arg) c.1719G>C (n.1719G>C) c.*1322G>C (n.*1322G>C) n.768G>C c.2098G>C (p.Gly700Arg) c.2011G>C (p.Gly671Arg) c.2119G>C (p.Gly707Arg) c.2116G>C (p.Gly706Arg) c.2035G>C (p.Gly679Arg) c.2032G>C (p.Gly678Arg) | |
| X | g.20155520C>T | CA412512174 | RPS6KA3 | c.2101G>A (p.Gly701Ser) c.2014G>A (p.Gly672Ser) c.2017G>A (p.Gly673Ser) c.1719G>A (n.1719G>A) c.*1322G>A (n.*1322G>A) n.768G>A c.2098G>A (p.Gly700Ser) c.2011G>A (p.Gly671Ser) c.2119G>A (p.Gly707Ser) c.2116G>A (p.Gly706Ser) c.2035G>A (p.Gly679Ser) c.2032G>A (p.Gly678Ser) | |
| X | g.20155521C>A | CA412512175 | RPS6KA3 | c.2101-1G>T (n.2101-1G>T) c.2014-1G>T (n.2014-1G>T) c.2017-1G>T (n.2017-1G>T) c.1719-1G>T (n.1719-1G>T) c.*1322-1G>T (n.*1322-1G>T) n.768-1G>T c.2098-1G>T (n.2098-1G>T) c.2011-1G>T (n.2011-1G>T) c.2119-1G>T (n.2119-1G>T) c.2116-1G>T (n.2116-1G>T) c.2035-1G>T (n.2035-1G>T) c.2032-1G>T (n.2032-1G>T) | |
| X | g.20155521C>G | CA412512177 | RPS6KA3 | c.2101-1G>C (n.2101-1G>C) c.2014-1G>C (n.2014-1G>C) c.2017-1G>C (n.2017-1G>C) c.1719-1G>C (n.1719-1G>C) c.*1322-1G>C (n.*1322-1G>C) n.768-1G>C c.2098-1G>C (n.2098-1G>C) c.2011-1G>C (n.2011-1G>C) c.2119-1G>C (n.2119-1G>C) c.2116-1G>C (n.2116-1G>C) c.2035-1G>C (n.2035-1G>C) c.2032-1G>C (n.2032-1G>C) | |
| X | g.20155521C>T | CA412512176 | RPS6KA3 | c.2101-1G>A (n.2101-1G>A) c.2014-1G>A (n.2014-1G>A) c.2017-1G>A (n.2017-1G>A) c.1719-1G>A (n.1719-1G>A) c.*1322-1G>A (n.*1322-1G>A) n.768-1G>A c.2098-1G>A (n.2098-1G>A) c.2011-1G>A (n.2011-1G>A) c.2119-1G>A (n.2119-1G>A) c.2116-1G>A (n.2116-1G>A) c.2035-1G>A (n.2035-1G>A) c.2032-1G>A (n.2032-1G>A) | |
| X | g.20155522T>A | CA412512178 | RPS6KA3 | c.2101-2A>T (n.2101-2A>T) c.2014-2A>T (n.2014-2A>T) c.2017-2A>T (n.2017-2A>T) c.1719-2A>T (n.1719-2A>T) c.*1322-2A>T (n.*1322-2A>T) n.768-2A>T c.2098-2A>T (n.2098-2A>T) c.2011-2A>T (n.2011-2A>T) c.2119-2A>T (n.2119-2A>T) c.2116-2A>T (n.2116-2A>T) c.2035-2A>T (n.2035-2A>T) c.2032-2A>T (n.2032-2A>T) | |
| X | g.20155522T>C | CA412512179 | RPS6KA3 | c.2101-2A>G (n.2101-2A>G) c.2014-2A>G (n.2014-2A>G) c.2017-2A>G (n.2017-2A>G) c.1719-2A>G (n.1719-2A>G) c.*1322-2A>G (n.*1322-2A>G) n.768-2A>G c.2098-2A>G (n.2098-2A>G) c.2011-2A>G (n.2011-2A>G) c.2119-2A>G (n.2119-2A>G) c.2116-2A>G (n.2116-2A>G) c.2035-2A>G (n.2035-2A>G) c.2032-2A>G (n.2032-2A>G) | ClinVar |
| X | g.20155522T>G | CA412512180 | RPS6KA3 | c.2101-2A>C (n.2101-2A>C) c.2014-2A>C (n.2014-2A>C) c.2017-2A>C (n.2017-2A>C) c.1719-2A>C (n.1719-2A>C) c.*1322-2A>C (n.*1322-2A>C) n.768-2A>C c.2098-2A>C (n.2098-2A>C) c.2011-2A>C (n.2011-2A>C) c.2119-2A>C (n.2119-2A>C) c.2116-2A>C (n.2116-2A>C) c.2035-2A>C (n.2035-2A>C) c.2032-2A>C (n.2032-2A>C) | |
| X | g.20155523G>A | CA640848044 | RPS6KA3 | c.2101-3C>T (n.2101-3C>T) c.2014-3C>T (n.2014-3C>T) c.2017-3C>T (n.2017-3C>T) c.1719-3C>T (n.1719-3C>T) c.*1322-3C>T (n.*1322-3C>T) n.768-3C>T c.2098-3C>T (n.2098-3C>T) c.2011-3C>T (n.2011-3C>T) c.2119-3C>T (n.2119-3C>T) c.2116-3C>T (n.2116-3C>T) c.2035-3C>T (n.2035-3C>T) c.2032-3C>T (n.2032-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20155523G= | CA2418502973 | RPS6KA3 | c.2101-3C= (n.2101-3C=) c.2014-3C= (n.2014-3C=) c.2017-3C= (n.2017-3C=) c.1719-3C= (n.1719-3C=) c.*1322-3C= (n.*1322-3C=) n.768-3C= c.2098-3C= (n.2098-3C=) c.2011-3C= (n.2011-3C=) c.2119-3C= (n.2119-3C=) c.2116-3C= (n.2116-3C=) c.2035-3C= (n.2035-3C=) c.2032-3C= (n.2032-3C=) | |
| X | g.20155526C>G | CA2693275799 | RPS6KA3 | c.2101-6G>C (n.2101-6G>C) c.2014-6G>C (n.2014-6G>C) c.2017-6G>C (n.2017-6G>C) c.1719-6G>C (n.1719-6G>C) c.*1322-6G>C (n.*1322-6G>C) n.768-6G>C c.2098-6G>C (n.2098-6G>C) c.2011-6G>C (n.2011-6G>C) c.2119-6G>C (n.2119-6G>C) c.2116-6G>C (n.2116-6G>C) c.2035-6G>C (n.2035-6G>C) c.2032-6G>C (n.2032-6G>C) | gnomAD v4 |
| X | g.20155530G>A | CA2579569024 | RPS6KA3 | c.2101-10C>T (n.2101-10C>T) c.2014-10C>T (n.2014-10C>T) c.2017-10C>T (n.2017-10C>T) c.1719-10C>T (n.1719-10C>T) c.*1322-10C>T (n.*1322-10C>T) n.768-10C>T c.2098-10C>T (n.2098-10C>T) c.2011-10C>T (n.2011-10C>T) c.2119-10C>T (n.2119-10C>T) c.2116-10C>T (n.2116-10C>T) c.2035-10C>T (n.2035-10C>T) c.2032-10C>T (n.2032-10C>T) | |
| X | g.20155531G>A | CA2738508233 | RPS6KA3 | c.2101-11C>T (n.2101-11C>T) c.2014-11C>T (n.2014-11C>T) c.2017-11C>T (n.2017-11C>T) c.1719-11C>T (n.1719-11C>T) c.*1322-11C>T (n.*1322-11C>T) n.768-11C>T c.2098-11C>T (n.2098-11C>T) c.2011-11C>T (n.2011-11C>T) c.2119-11C>T (n.2119-11C>T) c.2116-11C>T (n.2116-11C>T) c.2035-11C>T (n.2035-11C>T) c.2032-11C>T (n.2032-11C>T) | dbSNP |
| X | g.20155536A= | CA2418502974 | RPS6KA3 | c.2101-16T= (n.2101-16T=) c.2014-16T= (n.2014-16T=) c.2017-16T= (n.2017-16T=) c.1719-16T= (n.1719-16T=) c.*1322-16T= (n.*1322-16T=) n.768-16T= c.2098-16T= (n.2098-16T=) c.2011-16T= (n.2011-16T=) c.2119-16T= (n.2119-16T=) c.2116-16T= (n.2116-16T=) c.2035-16T= (n.2035-16T=) c.2032-16T= (n.2032-16T=) | |
| X | g.20155536A>C | CA873787324 | RPS6KA3 | c.2101-16T>G (n.2101-16T>G) c.2014-16T>G (n.2014-16T>G) c.2017-16T>G (n.2017-16T>G) c.1719-16T>G (n.1719-16T>G) c.*1322-16T>G (n.*1322-16T>G) n.768-16T>G c.2098-16T>G (n.2098-16T>G) c.2011-16T>G (n.2011-16T>G) c.2119-16T>G (n.2119-16T>G) c.2116-16T>G (n.2116-16T>G) c.2035-16T>G (n.2035-16T>G) c.2032-16T>G (n.2032-16T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.20155536A>T | CA2693275802 | RPS6KA3 | c.2101-16T>A (n.2101-16T>A) c.2014-16T>A (n.2014-16T>A) c.2017-16T>A (n.2017-16T>A) c.1719-16T>A (n.1719-16T>A) c.*1322-16T>A (n.*1322-16T>A) n.768-16T>A c.2098-16T>A (n.2098-16T>A) c.2011-16T>A (n.2011-16T>A) c.2119-16T>A (n.2119-16T>A) c.2116-16T>A (n.2116-16T>A) c.2035-16T>A (n.2035-16T>A) c.2032-16T>A (n.2032-16T>A) | gnomAD v4 |
| X | g.20155539G>A | CA2579569025 | RPS6KA3 | c.2101-19C>T (n.2101-19C>T) c.2014-19C>T (n.2014-19C>T) c.2017-19C>T (n.2017-19C>T) c.1719-19C>T (n.1719-19C>T) c.*1322-19C>T (n.*1322-19C>T) n.768-19C>T c.2098-19C>T (n.2098-19C>T) c.2011-19C>T (n.2011-19C>T) c.2119-19C>T (n.2119-19C>T) c.2116-19C>T (n.2116-19C>T) c.2035-19C>T (n.2035-19C>T) c.2032-19C>T (n.2032-19C>T) | |
| X | g.20155539G>T | CA2740092035 | RPS6KA3 | c.2101-19C>A (n.2101-19C>A) c.2014-19C>A (n.2014-19C>A) c.2017-19C>A (n.2017-19C>A) c.1719-19C>A (n.1719-19C>A) c.*1322-19C>A (n.*1322-19C>A) n.768-19C>A c.2098-19C>A (n.2098-19C>A) c.2011-19C>A (n.2011-19C>A) c.2119-19C>A (n.2119-19C>A) c.2116-19C>A (n.2116-19C>A) c.2035-19C>A (n.2035-19C>A) c.2032-19C>A (n.2032-19C>A) | ClinVar |
| X | g.20155543G>A | CA10366028 | RPS6KA3 | c.2101-23C>T (n.2101-23C>T) c.2014-23C>T (n.2014-23C>T) c.2017-23C>T (n.2017-23C>T) c.1719-23C>T (n.1719-23C>T) c.*1322-23C>T (n.*1322-23C>T) n.768-23C>T c.2098-23C>T (n.2098-23C>T) c.2011-23C>T (n.2011-23C>T) c.2119-23C>T (n.2119-23C>T) c.2116-23C>T (n.2116-23C>T) c.2035-23C>T (n.2035-23C>T) c.2032-23C>T (n.2032-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.20155543G= | CA2418502975 | RPS6KA3 | c.2101-23C= (n.2101-23C=) c.2014-23C= (n.2014-23C=) c.2017-23C= (n.2017-23C=) c.1719-23C= (n.1719-23C=) c.*1322-23C= (n.*1322-23C=) n.768-23C= c.2098-23C= (n.2098-23C=) c.2011-23C= (n.2011-23C=) c.2119-23C= (n.2119-23C=) c.2116-23C= (n.2116-23C=) c.2035-23C= (n.2035-23C=) c.2032-23C= (n.2032-23C=) | |
| X | g.20155544T>C | CA2693275805 | RPS6KA3 | c.2101-24A>G (n.2101-24A>G) c.2014-24A>G (n.2014-24A>G) c.2017-24A>G (n.2017-24A>G) c.1719-24A>G (n.1719-24A>G) c.*1322-24A>G (n.*1322-24A>G) n.768-24A>G c.2098-24A>G (n.2098-24A>G) c.2011-24A>G (n.2011-24A>G) c.2119-24A>G (n.2119-24A>G) c.2116-24A>G (n.2116-24A>G) c.2035-24A>G (n.2035-24A>G) c.2032-24A>G (n.2032-24A>G) | gnomAD v4 |
| X | g.20155547C>A | CA640848048 | RPS6KA3 | c.2101-27G>T (n.2101-27G>T) c.2014-27G>T (n.2014-27G>T) c.2017-27G>T (n.2017-27G>T) c.1719-27G>T (n.1719-27G>T) c.*1322-27G>T (n.*1322-27G>T) n.768-27G>T c.2098-27G>T (n.2098-27G>T) c.2011-27G>T (n.2011-27G>T) c.2119-27G>T (n.2119-27G>T) c.2116-27G>T (n.2116-27G>T) c.2035-27G>T (n.2035-27G>T) c.2032-27G>T (n.2032-27G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20155547C= | CA2418502976 | RPS6KA3 | c.2101-27G= (n.2101-27G=) c.2014-27G= (n.2014-27G=) c.2017-27G= (n.2017-27G=) c.1719-27G= (n.1719-27G=) c.*1322-27G= (n.*1322-27G=) n.768-27G= c.2098-27G= (n.2098-27G=) c.2011-27G= (n.2011-27G=) c.2119-27G= (n.2119-27G=) c.2116-27G= (n.2116-27G=) c.2035-27G= (n.2035-27G=) c.2032-27G= (n.2032-27G=) | |
| X | g.20155550_20155551del | CA2693275806 | RPS6KA3 | c.2101-29_2101-28del (n.2101-29_2101-28del) c.2014-29_2014-28del (n.2014-29_2014-28del) c.2017-29_2017-28del (n.2017-29_2017-28del) c.1719-29_1719-28del (n.1719-29_1719-28del) c.*1322-29_*1322-28del (n.*1322-29_*1322-28del) n.768-29_768-28del c.2098-29_2098-28del (n.2098-29_2098-28del) c.2011-29_2011-28del (n.2011-29_2011-28del) c.2119-29_2119-28del (n.2119-29_2119-28del) c.2116-29_2116-28del (n.2116-29_2116-28del) c.2035-29_2035-28del (n.2035-29_2035-28del) c.2032-29_2032-28del (n.2032-29_2032-28del) | gnomAD v4 |
| X | g.20155549A>G | CA2693275807 | RPS6KA3 | c.2101-29T>C (n.2101-29T>C) c.2014-29T>C (n.2014-29T>C) c.2017-29T>C (n.2017-29T>C) c.1719-29T>C (n.1719-29T>C) c.*1322-29T>C (n.*1322-29T>C) n.768-29T>C c.2098-29T>C (n.2098-29T>C) c.2011-29T>C (n.2011-29T>C) c.2119-29T>C (n.2119-29T>C) c.2116-29T>C (n.2116-29T>C) c.2035-29T>C (n.2035-29T>C) c.2032-29T>C (n.2032-29T>C) | gnomAD v4 |
| X | g.20155549_20155550insT | CA2819943469 | RPS6KA3 | c.2101-30_2101-29insA (n.2101-30_2101-29insA) c.2014-30_2014-29insA (n.2014-30_2014-29insA) c.2017-30_2017-29insA (n.2017-30_2017-29insA) c.1719-30_1719-29insA (n.1719-30_1719-29insA) c.*1322-30_*1322-29insA (n.*1322-30_*1322-29insA) n.768-30_768-29insA c.2098-30_2098-29insA (n.2098-30_2098-29insA) c.2011-30_2011-29insA (n.2011-30_2011-29insA) c.2119-30_2119-29insA (n.2119-30_2119-29insA) c.2116-30_2116-29insA (n.2116-30_2116-29insA) c.2035-30_2035-29insA (n.2035-30_2035-29insA) c.2032-30_2032-29insA (n.2032-30_2032-29insA) | |
| X | g.20155553T>C | CA1131465017 | RPS6KA3 | c.2101-33A>G (n.2101-33A>G) c.2014-33A>G (n.2014-33A>G) c.2017-33A>G (n.2017-33A>G) c.1719-33A>G (n.1719-33A>G) c.*1322-33A>G (n.*1322-33A>G) n.768-33A>G c.2098-33A>G (n.2098-33A>G) c.2011-33A>G (n.2011-33A>G) c.2119-33A>G (n.2119-33A>G) c.2116-33A>G (n.2116-33A>G) c.2035-33A>G (n.2035-33A>G) c.2032-33A>G (n.2032-33A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.20155553T= | CA2418502977 | RPS6KA3 | c.2101-33A= (n.2101-33A=) c.2014-33A= (n.2014-33A=) c.2017-33A= (n.2017-33A=) c.1719-33A= (n.1719-33A=) c.*1322-33A= (n.*1322-33A=) n.768-33A= c.2098-33A= (n.2098-33A=) c.2011-33A= (n.2011-33A=) c.2119-33A= (n.2119-33A=) c.2116-33A= (n.2116-33A=) c.2035-33A= (n.2035-33A=) c.2032-33A= (n.2032-33A=) |