UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.20155435C>A | CA412511804 | RPS6KA3 | c.2186G>T (p.Arg729Leu) c.2099G>T (p.Arg700Leu) c.2102G>T (p.Arg701Leu) c.1804G>T (n.1804G>T) c.*1407G>T (n.*1407G>T) c.2183G>T (p.Arg728Leu) c.2096G>T (p.Arg699Leu) c.2204G>T (p.Arg735Leu) c.2201G>T (p.Arg734Leu) c.2120G>T (p.Arg707Leu) c.2117G>T (p.Arg706Leu) | |
| X | g.20155435C= | CA2418502959 | RPS6KA3 | c.2186G= (p.Arg729=) c.2099G= (p.Arg700=) c.2102G= (p.Arg701=) c.1804G= (n.1804G=) c.*1407G= (n.*1407G=) c.2183G= (p.Arg728=) c.2096G= (p.Arg699=) c.2204G= (p.Arg735=) c.2201G= (p.Arg734=) c.2120G= (p.Arg707=) c.2117G= (p.Arg706=) | |
| X | g.20155435C>G | CA412511807 | RPS6KA3 | c.2186G>C (p.Arg729Pro) c.2099G>C (p.Arg700Pro) c.2102G>C (p.Arg701Pro) c.1804G>C (n.1804G>C) c.*1407G>C (n.*1407G>C) c.2183G>C (p.Arg728Pro) c.2096G>C (p.Arg699Pro) c.2204G>C (p.Arg735Pro) c.2201G>C (p.Arg734Pro) c.2120G>C (p.Arg707Pro) c.2117G>C (p.Arg706Pro) | |
| X | g.20155435C>T | CA255962 | RPS6KA3 | c.2186G>A (p.Arg729Gln) c.2099G>A (p.Arg700Gln) c.2102G>A (p.Arg701Gln) c.1804G>A (n.1804G>A) c.*1407G>A (n.*1407G>A) c.2183G>A (p.Arg728Gln) c.2096G>A (p.Arg699Gln) c.2204G>A (p.Arg735Gln) c.2201G>A (p.Arg734Gln) c.2120G>A (p.Arg707Gln) c.2117G>A (p.Arg706Gln) | ClinVar dbSNP |
| X | g.20155436G>A | CA412511813 | RPS6KA3 | c.2185C>T (p.Arg729Trp) c.2098C>T (p.Arg700Trp) c.2101C>T (p.Arg701Trp) c.1803C>T (n.1803C>T) c.*1406C>T (n.*1406C>T) c.2182C>T (p.Arg728Trp) c.2095C>T (p.Arg699Trp) c.2203C>T (p.Arg735Trp) c.2200C>T (p.Arg734Trp) c.2119C>T (p.Arg707Trp) c.2116C>T (p.Arg706Trp) | ClinVar dbSNP |
| X | g.20155436G>C | CA412511815 | RPS6KA3 | c.2185C>G (p.Arg729Gly) c.2098C>G (p.Arg700Gly) c.2101C>G (p.Arg701Gly) c.1803C>G (n.1803C>G) c.*1406C>G (n.*1406C>G) c.2182C>G (p.Arg728Gly) c.2095C>G (p.Arg699Gly) c.2203C>G (p.Arg735Gly) c.2200C>G (p.Arg734Gly) c.2119C>G (p.Arg707Gly) c.2116C>G (p.Arg706Gly) | |
| X | g.20155436G= | CA2418502960 | RPS6KA3 | c.2185C= (p.Arg729=) c.2098C= (p.Arg700=) c.2101C= (p.Arg701=) c.1803C= (n.1803C=) c.*1406C= (n.*1406C=) c.2182C= (p.Arg728=) c.2095C= (p.Arg699=) c.2203C= (p.Arg735=) c.2200C= (p.Arg734=) c.2119C= (p.Arg707=) c.2116C= (p.Arg706=) | |
| X | g.20155436G>T | CA515613290 | RPS6KA3 | c.2185C>A (p.Arg729=) c.2098C>A (p.Arg700=) c.2101C>A (p.Arg701=) c.1803C>A (n.1803C>A) c.*1406C>A (n.*1406C>A) c.2182C>A (p.Arg728=) c.2095C>A (p.Arg699=) c.2203C>A (p.Arg735=) c.2200C>A (p.Arg734=) c.2119C>A (p.Arg707=) c.2116C>A (p.Arg706=) | dbSNP gnomAD v4 |
| X | g.20155437C>A | CA412511818 | RPS6KA3 | c.2184G>T (p.Gln728His) c.2097G>T (p.Gln699His) c.2100G>T (p.Gln700His) c.1802G>T (n.1802G>T) c.*1405G>T (n.*1405G>T) c.2181G>T (p.Gln727His) c.2094G>T (p.Gln698His) c.2202G>T (p.Gln734His) c.2199G>T (p.Gln733His) c.2118G>T (p.Gln706His) c.2115G>T (p.Gln705His) | |
| X | g.20155437C>G | CA412511821 | RPS6KA3 | c.2184G>C (p.Gln728His) c.2097G>C (p.Gln699His) c.2100G>C (p.Gln700His) c.1802G>C (n.1802G>C) c.*1405G>C (n.*1405G>C) c.2181G>C (p.Gln727His) c.2094G>C (p.Gln698His) c.2202G>C (p.Gln734His) c.2199G>C (p.Gln733His) c.2118G>C (p.Gln706His) c.2115G>C (p.Gln705His) | |
| X | g.20155437C>T | CA515613291 | RPS6KA3 | c.2184G>A (p.Gln728=) c.2097G>A (p.Gln699=) c.2100G>A (p.Gln700=) c.1802G>A (n.1802G>A) c.*1405G>A (n.*1405G>A) c.2181G>A (p.Gln727=) c.2094G>A (p.Gln698=) c.2202G>A (p.Gln734=) c.2199G>A (p.Gln733=) c.2118G>A (p.Gln706=) c.2115G>A (p.Gln705=) | |
| X | g.20155438T>A | CA412511824 | RPS6KA3 | c.2183A>T (p.Gln728Leu) c.2096A>T (p.Gln699Leu) c.2099A>T (p.Gln700Leu) c.1801A>T (n.1801A>T) c.*1404A>T (n.*1404A>T) c.2180A>T (p.Gln727Leu) c.2093A>T (p.Gln698Leu) c.2201A>T (p.Gln734Leu) c.2198A>T (p.Gln733Leu) c.2117A>T (p.Gln706Leu) c.2114A>T (p.Gln705Leu) | |
| X | g.20155438T>C | CA412511827 | RPS6KA3 | c.2183A>G (p.Gln728Arg) c.2096A>G (p.Gln699Arg) c.2099A>G (p.Gln700Arg) c.1801A>G (n.1801A>G) c.*1404A>G (n.*1404A>G) c.2180A>G (p.Gln727Arg) c.2093A>G (p.Gln698Arg) c.2201A>G (p.Gln734Arg) c.2198A>G (p.Gln733Arg) c.2117A>G (p.Gln706Arg) c.2114A>G (p.Gln705Arg) | |
| X | g.20155438T>G | CA412511830 | RPS6KA3 | c.2183A>C (p.Gln728Pro) c.2096A>C (p.Gln699Pro) c.2099A>C (p.Gln700Pro) c.1801A>C (n.1801A>C) c.*1404A>C (n.*1404A>C) c.2180A>C (p.Gln727Pro) c.2093A>C (p.Gln698Pro) c.2201A>C (p.Gln734Pro) c.2198A>C (p.Gln733Pro) c.2117A>C (p.Gln706Pro) c.2114A>C (p.Gln705Pro) | |
| X | g.20155439G>A | CA412511839 | RPS6KA3 | c.2182C>T (p.Gln728Ter) c.2095C>T (p.Gln699Ter) c.2098C>T (p.Gln700Ter) c.1800C>T (n.1800C>T) c.*1403C>T (n.*1403C>T) c.2179C>T (p.Gln727Ter) c.2092C>T (p.Gln698Ter) c.2200C>T (p.Gln734Ter) c.2197C>T (p.Gln733Ter) c.2116C>T (p.Gln706Ter) c.2113C>T (p.Gln705Ter) | |
| X | g.20155439G>C | CA412511835 | RPS6KA3 | c.2182C>G (p.Gln728Glu) c.2095C>G (p.Gln699Glu) c.2098C>G (p.Gln700Glu) c.1800C>G (n.1800C>G) c.*1403C>G (n.*1403C>G) c.2179C>G (p.Gln727Glu) c.2092C>G (p.Gln698Glu) c.2200C>G (p.Gln734Glu) c.2197C>G (p.Gln733Glu) c.2116C>G (p.Gln706Glu) c.2113C>G (p.Gln705Glu) | |
| X | g.20155439G>T | CA412511833 | RPS6KA3 | c.2182C>A (p.Gln728Lys) c.2095C>A (p.Gln699Lys) c.2098C>A (p.Gln700Lys) c.1800C>A (n.1800C>A) c.*1403C>A (n.*1403C>A) c.2179C>A (p.Gln727Lys) c.2092C>A (p.Gln698Lys) c.2200C>A (p.Gln734Lys) c.2197C>A (p.Gln733Lys) c.2116C>A (p.Gln706Lys) c.2113C>A (p.Gln705Lys) | |
| X | g.20155440A= | CA2418502961 | RPS6KA3 | c.2181T= (p.Ala727=) c.2094T= (p.Ala698=) c.2097T= (p.Ala699=) c.1799T= (n.1799T=) c.*1402T= (n.*1402T=) c.2178T= (p.Ala726=) c.2091T= (p.Ala697=) c.2199T= (p.Ala733=) c.2196T= (p.Ala732=) c.2115T= (p.Ala705=) c.2112T= (p.Ala704=) | |
| X | g.20155440A>C | CA327473500 | RPS6KA3 | c.2181T>G (p.Ala727=) c.2094T>G (p.Ala698=) c.2097T>G (p.Ala699=) c.1799T>G (n.1799T>G) c.*1402T>G (n.*1402T>G) c.2178T>G (p.Ala726=) c.2091T>G (p.Ala697=) c.2199T>G (p.Ala733=) c.2196T>G (p.Ala732=) c.2115T>G (p.Ala705=) c.2112T>G (p.Ala704=) | dbSNP |
| X | g.20155440A>G | CA515613292 | RPS6KA3 | c.2181T>C (p.Ala727=) c.2094T>C (p.Ala698=) c.2097T>C (p.Ala699=) c.1799T>C (n.1799T>C) c.*1402T>C (n.*1402T>C) c.2178T>C (p.Ala726=) c.2091T>C (p.Ala697=) c.2199T>C (p.Ala733=) c.2196T>C (p.Ala732=) c.2115T>C (p.Ala705=) c.2112T>C (p.Ala704=) | |
| X | g.20155440A>T | CA515613293 | RPS6KA3 | c.2181T>A (p.Ala727=) c.2094T>A (p.Ala698=) c.2097T>A (p.Ala699=) c.1799T>A (n.1799T>A) c.*1402T>A (n.*1402T>A) c.2178T>A (p.Ala726=) c.2091T>A (p.Ala697=) c.2199T>A (p.Ala733=) c.2196T>A (p.Ala732=) c.2115T>A (p.Ala705=) c.2112T>A (p.Ala704=) | |
| X | g.20155441G>A | CA412511843 | RPS6KA3 | c.2180C>T (p.Ala727Val) c.2093C>T (p.Ala698Val) c.2096C>T (p.Ala699Val) c.1798C>T (n.1798C>T) c.*1401C>T (n.*1401C>T) n.847C>T c.2177C>T (p.Ala726Val) c.2090C>T (p.Ala697Val) c.2198C>T (p.Ala733Val) c.2195C>T (p.Ala732Val) c.2114C>T (p.Ala705Val) c.2111C>T (p.Ala704Val) | |
| X | g.20155441G>C | CA412511845 | RPS6KA3 | c.2180C>G (p.Ala727Gly) c.2093C>G (p.Ala698Gly) c.2096C>G (p.Ala699Gly) c.1798C>G (n.1798C>G) c.*1401C>G (n.*1401C>G) n.847C>G c.2177C>G (p.Ala726Gly) c.2090C>G (p.Ala697Gly) c.2198C>G (p.Ala733Gly) c.2195C>G (p.Ala732Gly) c.2114C>G (p.Ala705Gly) c.2111C>G (p.Ala704Gly) | |
| X | g.20155441G>T | CA412511848 | RPS6KA3 | c.2180C>A (p.Ala727Asp) c.2093C>A (p.Ala698Asp) c.2096C>A (p.Ala699Asp) c.1798C>A (n.1798C>A) c.*1401C>A (n.*1401C>A) n.847C>A c.2177C>A (p.Ala726Asp) c.2090C>A (p.Ala697Asp) c.2198C>A (p.Ala733Asp) c.2195C>A (p.Ala732Asp) c.2114C>A (p.Ala705Asp) c.2111C>A (p.Ala704Asp) | |
| X | g.20155442C>A | CA412511851 | RPS6KA3 | c.2179G>T (p.Ala727Ser) c.2092G>T (p.Ala698Ser) c.2095G>T (p.Ala699Ser) c.1797G>T (n.1797G>T) c.*1400G>T (n.*1400G>T) n.846G>T c.2176G>T (p.Ala726Ser) c.2089G>T (p.Ala697Ser) c.2197G>T (p.Ala733Ser) c.2194G>T (p.Ala732Ser) c.2113G>T (p.Ala705Ser) c.2110G>T (p.Ala704Ser) | |
| X | g.20155442C>G | CA412511854 | RPS6KA3 | c.2179G>C (p.Ala727Pro) c.2092G>C (p.Ala698Pro) c.2095G>C (p.Ala699Pro) c.1797G>C (n.1797G>C) c.*1400G>C (n.*1400G>C) n.846G>C c.2176G>C (p.Ala726Pro) c.2089G>C (p.Ala697Pro) c.2197G>C (p.Ala733Pro) c.2194G>C (p.Ala732Pro) c.2113G>C (p.Ala705Pro) c.2110G>C (p.Ala704Pro) | |
| X | g.20155442C>T | CA412511855 | RPS6KA3 | c.2179G>A (p.Ala727Thr) c.2092G>A (p.Ala698Thr) c.2095G>A (p.Ala699Thr) c.1797G>A (n.1797G>A) c.*1400G>A (n.*1400G>A) n.846G>A c.2176G>A (p.Ala726Thr) c.2089G>A (p.Ala697Thr) c.2197G>A (p.Ala733Thr) c.2194G>A (p.Ala732Thr) c.2113G>A (p.Ala705Thr) c.2110G>A (p.Ala704Thr) | |
| X | g.20155443A>C | CA515613294 | RPS6KA3 | c.2178T>G (p.Leu726=) c.2091T>G (p.Leu697=) c.2094T>G (p.Leu698=) c.1796T>G (n.1796T>G) c.*1399T>G (n.*1399T>G) n.845T>G c.2175T>G (p.Leu725=) c.2088T>G (p.Leu696=) c.2196T>G (p.Leu732=) c.2193T>G (p.Leu731=) c.2112T>G (p.Leu704=) c.2109T>G (p.Leu703=) | |
| X | g.20155443A>G | CA515613295 | RPS6KA3 | c.2178T>C (p.Leu726=) c.2091T>C (p.Leu697=) c.2094T>C (p.Leu698=) c.1796T>C (n.1796T>C) c.*1399T>C (n.*1399T>C) n.845T>C c.2175T>C (p.Leu725=) c.2088T>C (p.Leu696=) c.2196T>C (p.Leu732=) c.2193T>C (p.Leu731=) c.2112T>C (p.Leu704=) c.2109T>C (p.Leu703=) | |
| X | g.20155443A>T | CA515613296 | RPS6KA3 | c.2178T>A (p.Leu726=) c.2091T>A (p.Leu697=) c.2094T>A (p.Leu698=) c.1796T>A (n.1796T>A) c.*1399T>A (n.*1399T>A) n.845T>A c.2175T>A (p.Leu725=) c.2088T>A (p.Leu696=) c.2196T>A (p.Leu732=) c.2193T>A (p.Leu731=) c.2112T>A (p.Leu704=) c.2109T>A (p.Leu703=) | |
| X | g.20155444A>C | CA412511858 | RPS6KA3 | c.2177T>G (p.Leu726Arg) c.2090T>G (p.Leu697Arg) c.2093T>G (p.Leu698Arg) c.1795T>G (n.1795T>G) c.*1398T>G (n.*1398T>G) n.844T>G c.2174T>G (p.Leu725Arg) c.2087T>G (p.Leu696Arg) c.2195T>G (p.Leu732Arg) c.2192T>G (p.Leu731Arg) c.2111T>G (p.Leu704Arg) c.2108T>G (p.Leu703Arg) | |
| X | g.20155444A>G | CA412511859 | RPS6KA3 | c.2177T>C (p.Leu726Pro) c.2090T>C (p.Leu697Pro) c.2093T>C (p.Leu698Pro) c.1795T>C (n.1795T>C) c.*1398T>C (n.*1398T>C) n.844T>C c.2174T>C (p.Leu725Pro) c.2087T>C (p.Leu696Pro) c.2195T>C (p.Leu732Pro) c.2192T>C (p.Leu731Pro) c.2111T>C (p.Leu704Pro) c.2108T>C (p.Leu703Pro) | |
| X | g.20155444A>T | CA412511860 | RPS6KA3 | c.2177T>A (p.Leu726His) c.2090T>A (p.Leu697His) c.2093T>A (p.Leu698His) c.1795T>A (n.1795T>A) c.*1398T>A (n.*1398T>A) n.844T>A c.2174T>A (p.Leu725His) c.2087T>A (p.Leu696His) c.2195T>A (p.Leu732His) c.2192T>A (p.Leu731His) c.2111T>A (p.Leu704His) c.2108T>A (p.Leu703His) | |
| X | g.20155445G>A | CA412511861 | RPS6KA3 | c.2176C>T (p.Leu726Phe) c.2089C>T (p.Leu697Phe) c.2092C>T (p.Leu698Phe) c.1794C>T (n.1794C>T) c.*1397C>T (n.*1397C>T) n.843C>T c.2173C>T (p.Leu725Phe) c.2086C>T (p.Leu696Phe) c.2194C>T (p.Leu732Phe) c.2191C>T (p.Leu731Phe) c.2110C>T (p.Leu704Phe) c.2107C>T (p.Leu703Phe) | |
| X | g.20155445G>C | CA412511862 | RPS6KA3 | c.2176C>G (p.Leu726Val) c.2089C>G (p.Leu697Val) c.2092C>G (p.Leu698Val) c.1794C>G (n.1794C>G) c.*1397C>G (n.*1397C>G) n.843C>G c.2173C>G (p.Leu725Val) c.2086C>G (p.Leu696Val) c.2194C>G (p.Leu732Val) c.2191C>G (p.Leu731Val) c.2110C>G (p.Leu704Val) c.2107C>G (p.Leu703Val) | |
| X | g.20155445G>T | CA412511863 | RPS6KA3 | c.2176C>A (p.Leu726Ile) c.2089C>A (p.Leu697Ile) c.2092C>A (p.Leu698Ile) c.1794C>A (n.1794C>A) c.*1397C>A (n.*1397C>A) n.843C>A c.2173C>A (p.Leu725Ile) c.2086C>A (p.Leu696Ile) c.2194C>A (p.Leu732Ile) c.2191C>A (p.Leu731Ile) c.2110C>A (p.Leu704Ile) c.2107C>A (p.Leu703Ile) | |
| X | g.20155446A>C | CA515613299 | RPS6KA3 | c.2175T>G (p.Thr725=) c.2088T>G (p.Thr696=) c.2091T>G (p.Thr697=) c.1793T>G (n.1793T>G) c.*1396T>G (n.*1396T>G) n.842T>G c.2172T>G (p.Thr724=) c.2085T>G (p.Thr695=) c.2193T>G (p.Thr731=) c.2190T>G (p.Thr730=) c.2109T>G (p.Thr703=) c.2106T>G (p.Thr702=) | |
| X | g.20155446A>G | CA515613298 | RPS6KA3 | c.2175T>C (p.Thr725=) c.2088T>C (p.Thr696=) c.2091T>C (p.Thr697=) c.1793T>C (n.1793T>C) c.*1396T>C (n.*1396T>C) n.842T>C c.2172T>C (p.Thr724=) c.2085T>C (p.Thr695=) c.2193T>C (p.Thr731=) c.2190T>C (p.Thr730=) c.2109T>C (p.Thr703=) c.2106T>C (p.Thr702=) | |
| X | g.20155446A>T | CA515613297 | RPS6KA3 | c.2175T>A (p.Thr725=) c.2088T>A (p.Thr696=) c.2091T>A (p.Thr697=) c.1793T>A (n.1793T>A) c.*1396T>A (n.*1396T>A) n.842T>A c.2172T>A (p.Thr724=) c.2085T>A (p.Thr695=) c.2193T>A (p.Thr731=) c.2190T>A (p.Thr730=) c.2109T>A (p.Thr703=) c.2106T>A (p.Thr702=) | |
| X | g.20155447G>A | CA412511878 | RPS6KA3 | c.2174C>T (p.Thr725Ile) c.2087C>T (p.Thr696Ile) c.2090C>T (p.Thr697Ile) c.1792C>T (n.1792C>T) c.*1395C>T (n.*1395C>T) n.841C>T c.2171C>T (p.Thr724Ile) c.2084C>T (p.Thr695Ile) c.2192C>T (p.Thr731Ile) c.2189C>T (p.Thr730Ile) c.2108C>T (p.Thr703Ile) c.2105C>T (p.Thr702Ile) | |
| X | g.20155447G>C | CA412511876 | RPS6KA3 | c.2174C>G (p.Thr725Ser) c.2087C>G (p.Thr696Ser) c.2090C>G (p.Thr697Ser) c.1792C>G (n.1792C>G) c.*1395C>G (n.*1395C>G) n.841C>G c.2171C>G (p.Thr724Ser) c.2084C>G (p.Thr695Ser) c.2192C>G (p.Thr731Ser) c.2189C>G (p.Thr730Ser) c.2108C>G (p.Thr703Ser) c.2105C>G (p.Thr702Ser) | |
| X | g.20155447G>T | CA412511866 | RPS6KA3 | c.2174C>A (p.Thr725Asn) c.2087C>A (p.Thr696Asn) c.2090C>A (p.Thr697Asn) c.1792C>A (n.1792C>A) c.*1395C>A (n.*1395C>A) n.841C>A c.2171C>A (p.Thr724Asn) c.2084C>A (p.Thr695Asn) c.2192C>A (p.Thr731Asn) c.2189C>A (p.Thr730Asn) c.2108C>A (p.Thr703Asn) c.2105C>A (p.Thr702Asn) | |
| X | g.20155448T>A | CA412511881 | RPS6KA3 | c.2173A>T (p.Thr725Ser) c.2086A>T (p.Thr696Ser) c.2089A>T (p.Thr697Ser) c.1791A>T (n.1791A>T) c.*1394A>T (n.*1394A>T) n.840A>T c.2170A>T (p.Thr724Ser) c.2083A>T (p.Thr695Ser) c.2191A>T (p.Thr731Ser) c.2188A>T (p.Thr730Ser) c.2107A>T (p.Thr703Ser) c.2104A>T (p.Thr702Ser) | |
| X | g.20155448T>C | CA412511885 | RPS6KA3 | c.2173A>G (p.Thr725Ala) c.2086A>G (p.Thr696Ala) c.2089A>G (p.Thr697Ala) c.1791A>G (n.1791A>G) c.*1394A>G (n.*1394A>G) n.840A>G c.2170A>G (p.Thr724Ala) c.2083A>G (p.Thr695Ala) c.2191A>G (p.Thr731Ala) c.2188A>G (p.Thr730Ala) c.2107A>G (p.Thr703Ala) c.2104A>G (p.Thr702Ala) | gnomAD v4 |
| X | g.20155448T>G | CA412511883 | RPS6KA3 | c.2173A>C (p.Thr725Pro) c.2086A>C (p.Thr696Pro) c.2089A>C (p.Thr697Pro) c.1791A>C (n.1791A>C) c.*1394A>C (n.*1394A>C) n.840A>C c.2170A>C (p.Thr724Pro) c.2083A>C (p.Thr695Pro) c.2191A>C (p.Thr731Pro) c.2188A>C (p.Thr730Pro) c.2107A>C (p.Thr703Pro) c.2104A>C (p.Thr702Pro) | |
| X | g.20155449A>C | CA515613300 | RPS6KA3 | c.2172T>G (p.Ser724=) c.2085T>G (p.Ser695=) c.2088T>G (p.Ser696=) c.1790T>G (n.1790T>G) c.*1393T>G (n.*1393T>G) n.839T>G c.2169T>G (p.Ser723=) c.2082T>G (p.Ser694=) c.2190T>G (p.Ser730=) c.2187T>G (p.Ser729=) c.2106T>G (p.Ser702=) c.2103T>G (p.Ser701=) | |
| X | g.20155449A>G | CA515613301 | RPS6KA3 | c.2172T>C (p.Ser724=) c.2085T>C (p.Ser695=) c.2088T>C (p.Ser696=) c.1790T>C (n.1790T>C) c.*1393T>C (n.*1393T>C) n.839T>C c.2169T>C (p.Ser723=) c.2082T>C (p.Ser694=) c.2190T>C (p.Ser730=) c.2187T>C (p.Ser729=) c.2106T>C (p.Ser702=) c.2103T>C (p.Ser701=) | |
| X | g.20155449A>T | CA515613302 | RPS6KA3 | c.2172T>A (p.Ser724=) c.2085T>A (p.Ser695=) c.2088T>A (p.Ser696=) c.1790T>A (n.1790T>A) c.*1393T>A (n.*1393T>A) n.839T>A c.2169T>A (p.Ser723=) c.2082T>A (p.Ser694=) c.2190T>A (p.Ser730=) c.2187T>A (p.Ser729=) c.2106T>A (p.Ser702=) c.2103T>A (p.Ser701=) | |
| X | g.20155450G>A | CA412511890 | RPS6KA3 | c.2171C>T (p.Ser724Phe) c.2084C>T (p.Ser695Phe) c.2087C>T (p.Ser696Phe) c.1789C>T (n.1789C>T) c.*1392C>T (n.*1392C>T) n.838C>T c.2168C>T (p.Ser723Phe) c.2081C>T (p.Ser694Phe) c.2189C>T (p.Ser730Phe) c.2186C>T (p.Ser729Phe) c.2105C>T (p.Ser702Phe) c.2102C>T (p.Ser701Phe) | gnomAD v4 |
| X | g.20155450G>C | CA412511894 | RPS6KA3 | c.2171C>G (p.Ser724Cys) c.2084C>G (p.Ser695Cys) c.2087C>G (p.Ser696Cys) c.1789C>G (n.1789C>G) c.*1392C>G (n.*1392C>G) n.838C>G c.2168C>G (p.Ser723Cys) c.2081C>G (p.Ser694Cys) c.2189C>G (p.Ser730Cys) c.2186C>G (p.Ser729Cys) c.2105C>G (p.Ser702Cys) c.2102C>G (p.Ser701Cys) |