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 |
|---|---|---|---|---|---|
| 5 | g.38955546_38955613del | CA2673646936 | RICTOR | c.2592_2609+50del c.552_569+50del c.2544_2561+50del n.552_569+50del c.*1816_*1833+50del c.1737_1754+50del c.2403_2420+50del c.2433_2450+50del | gnomAD v4 |
| 5 | g.38955594C>A | CA359563301 | RICTOR | c.2609+1G>T (n.2609+1G>T) c.569+1G>T (n.569+1G>T) c.2561+1G>T (n.2561+1G>T) n.569+1G>T c.*1833+1G>T (n.*1833+1G>T) c.1754+1G>T (n.1754+1G>T) c.2420+1G>T (n.2420+1G>T) c.2450+1G>T (n.2450+1G>T) | |
| 5 | g.38955594C>G | CA359563303 | RICTOR | c.2609+1G>C (n.2609+1G>C) c.569+1G>C (n.569+1G>C) c.2561+1G>C (n.2561+1G>C) n.569+1G>C c.*1833+1G>C (n.*1833+1G>C) c.1754+1G>C (n.1754+1G>C) c.2420+1G>C (n.2420+1G>C) c.2450+1G>C (n.2450+1G>C) | |
| 5 | g.38955594C>T | CA359563305 | RICTOR | c.2609+1G>A (n.2609+1G>A) c.569+1G>A (n.569+1G>A) c.2561+1G>A (n.2561+1G>A) n.569+1G>A c.*1833+1G>A (n.*1833+1G>A) c.1754+1G>A (n.1754+1G>A) c.2420+1G>A (n.2420+1G>A) c.2450+1G>A (n.2450+1G>A) | gnomAD v4 |
| 5 | g.38955595C>A | CA359563309 | RICTOR | c.2609G>T (p.Arg870Ile) c.569G>T (p.Ser190Ile) c.2561G>T (p.Arg854Ile) n.569G>T c.*1833G>T (n.*1833G>T) c.1754G>T (p.Arg585Ile) c.2420G>T (p.Arg807Ile) c.2450G>T (p.Arg817Ile) | |
| 5 | g.38955595C>G | CA359563310 | RICTOR | c.2609G>C (p.Arg870Thr) c.569G>C (p.Ser190Thr) c.2561G>C (p.Arg854Thr) n.569G>C c.*1833G>C (n.*1833G>C) c.1754G>C (p.Arg585Thr) c.2420G>C (p.Arg807Thr) c.2450G>C (p.Arg817Thr) | |
| 5 | g.38955595C>T | CA359563312 | RICTOR | c.2609G>A (p.Arg870Lys) c.569G>A (p.Ser190Asn) c.2561G>A (p.Arg854Lys) n.569G>A c.*1833G>A (n.*1833G>A) c.1754G>A (p.Arg585Lys) c.2420G>A (p.Arg807Lys) c.2450G>A (p.Arg817Lys) | dbSNP |
| 5 | g.38955596T>A | CA359563315 | RICTOR | c.2608A>T (p.Arg870Ter) c.568A>T (p.Ser190Cys) c.2560A>T (p.Arg854Ter) n.568A>T c.*1832A>T (n.*1832A>T) c.1753A>T (p.Arg585Ter) c.2419A>T (p.Arg807Ter) c.2449A>T (p.Arg817Ter) | |
| 5 | g.38955596T>C | CA359563317 | RICTOR | c.2608A>G (p.Arg870Gly) c.568A>G (p.Ser190Gly) c.2560A>G (p.Arg854Gly) n.568A>G c.*1832A>G (n.*1832A>G) c.1753A>G (p.Arg585Gly) c.2419A>G (p.Arg807Gly) c.2449A>G (p.Arg817Gly) | gnomAD v4 |
| 5 | g.38955596T>G | CA443950925 | RICTOR | c.2608A>C (p.Arg870=) c.568A>C (p.Ser190Arg) c.2560A>C (p.Arg854=) n.568A>C c.*1832A>C (n.*1832A>C) c.1753A>C (p.Arg585=) c.2419A>C (p.Arg807=) c.2449A>C (p.Arg817=) | |
| 5 | g.38955598del | CA2673647013 | RICTOR | c.2608del (p.Arg870AspfsTer17) c.568del (p.Ser190AlafsTer5) c.2560del (p.Arg854AspfsTer17) n.568del c.*1832del (n.*1832del) c.1753del (p.Arg585AspfsTer17) c.2419del (p.Arg807AspfsTer17) c.2449del (p.Arg817AspfsTer17) | gnomAD v4 |
| 5 | g.38955597T>A | CA359563320 | RICTOR | c.2607A>T (p.Gln869His) c.567A>T (p.Gln189His) c.2559A>T (p.Gln853His) n.567A>T c.*1831A>T (n.*1831A>T) c.1752A>T (p.Gln584His) c.2418A>T (p.Gln806His) c.2448A>T (p.Gln816His) | |
| 5 | g.38955597T>C | CA443950926 | RICTOR | c.2607A>G (p.Gln869=) c.567A>G (p.Gln189=) c.2559A>G (p.Gln853=) n.567A>G c.*1831A>G (n.*1831A>G) c.1752A>G (p.Gln584=) c.2418A>G (p.Gln806=) c.2448A>G (p.Gln816=) | gnomAD v4 |
| 5 | g.38955597T>G | CA359563322 | RICTOR | c.2607A>C (p.Gln869His) c.567A>C (p.Gln189His) c.2559A>C (p.Gln853His) n.567A>C c.*1831A>C (n.*1831A>C) c.1752A>C (p.Gln584His) c.2418A>C (p.Gln806His) c.2448A>C (p.Gln816His) | |
| 5 | g.38955598T>A | CA359563325 | RICTOR | c.2606A>T (p.Gln869Leu) c.566A>T (p.Gln189Leu) c.2558A>T (p.Gln853Leu) n.566A>T c.*1830A>T (n.*1830A>T) c.1751A>T (p.Gln584Leu) c.2417A>T (p.Gln806Leu) c.2447A>T (p.Gln816Leu) | |
| 5 | g.38955598T>C | CA359563327 | RICTOR | c.2606A>G (p.Gln869Arg) c.566A>G (p.Gln189Arg) c.2558A>G (p.Gln853Arg) n.566A>G c.*1830A>G (n.*1830A>G) c.1751A>G (p.Gln584Arg) c.2417A>G (p.Gln806Arg) c.2447A>G (p.Gln816Arg) | gnomAD v4 |
| 5 | g.38955598T>G | CA359563329 | RICTOR | c.2606A>C (p.Gln869Pro) c.566A>C (p.Gln189Pro) c.2558A>C (p.Gln853Pro) n.566A>C c.*1830A>C (n.*1830A>C) c.1751A>C (p.Gln584Pro) c.2417A>C (p.Gln806Pro) c.2447A>C (p.Gln816Pro) | |
| 5 | g.38955599G>A | CA359563333 | RICTOR | c.2605C>T (p.Gln869Ter) c.565C>T (p.Gln189Ter) c.2557C>T (p.Gln853Ter) n.565C>T c.*1829C>T (n.*1829C>T) c.1750C>T (p.Gln584Ter) c.2416C>T (p.Gln806Ter) c.2446C>T (p.Gln816Ter) | |
| 5 | g.38955599G>C | CA359563335 | RICTOR | c.2605C>G (p.Gln869Glu) c.565C>G (p.Gln189Glu) c.2557C>G (p.Gln853Glu) n.565C>G c.*1829C>G (n.*1829C>G) c.1750C>G (p.Gln584Glu) c.2416C>G (p.Gln806Glu) c.2446C>G (p.Gln816Glu) | |
| 5 | g.38955599G>T | CA359563337 | RICTOR | c.2605C>A (p.Gln869Lys) c.565C>A (p.Gln189Lys) c.2557C>A (p.Gln853Lys) n.565C>A c.*1829C>A (n.*1829C>A) c.1750C>A (p.Gln584Lys) c.2416C>A (p.Gln806Lys) c.2446C>A (p.Gln816Lys) | gnomAD v4 |
| 5 | g.38955600G>A | CA3245090 | RICTOR | c.2604C>T (p.Asn868=) c.564C>T (p.Asn188=) c.2556C>T (p.Asn852=) n.564C>T c.*1828C>T (n.*1828C>T) c.1749C>T (p.Asn583=) c.2415C>T (p.Asn805=) c.2445C>T (p.Asn815=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38955600G>C | CA359563341 | RICTOR | c.2604C>G (p.Asn868Lys) c.564C>G (p.Asn188Lys) c.2556C>G (p.Asn852Lys) n.564C>G c.*1828C>G (n.*1828C>G) c.1749C>G (p.Asn583Lys) c.2415C>G (p.Asn805Lys) c.2445C>G (p.Asn815Lys) | |
| 5 | g.38955600G= | CA1540476077 | RICTOR | c.2604C= (p.Asn868=) c.564C= (p.Asn188=) c.2556C= (p.Asn852=) n.564C= c.*1828C= (n.*1828C=) c.1749C= (p.Asn583=) c.2415C= (p.Asn805=) c.2445C= (p.Asn815=) | |
| 5 | g.38955600G>T | CA359563342 | RICTOR | c.2604C>A (p.Asn868Lys) c.564C>A (p.Asn188Lys) c.2556C>A (p.Asn852Lys) n.564C>A c.*1828C>A (n.*1828C>A) c.1749C>A (p.Asn583Lys) c.2415C>A (p.Asn805Lys) c.2445C>A (p.Asn815Lys) | gnomAD v4 |
| 5 | g.38955601T>A | CA359563346 | RICTOR | c.2603A>T (p.Asn868Ile) c.563A>T (p.Asn188Ile) c.2555A>T (p.Asn852Ile) n.563A>T c.*1827A>T (n.*1827A>T) c.1748A>T (p.Asn583Ile) c.2414A>T (p.Asn805Ile) c.2444A>T (p.Asn815Ile) | |
| 5 | g.38955601T>C | CA359563349 | RICTOR | c.2603A>G (p.Asn868Ser) c.563A>G (p.Asn188Ser) c.2555A>G (p.Asn852Ser) n.563A>G c.*1827A>G (n.*1827A>G) c.1748A>G (p.Asn583Ser) c.2414A>G (p.Asn805Ser) c.2444A>G (p.Asn815Ser) | gnomAD v4 |
| 5 | g.38955601T>G | CA359563351 | RICTOR | c.2603A>C (p.Asn868Thr) c.563A>C (p.Asn188Thr) c.2555A>C (p.Asn852Thr) n.563A>C c.*1827A>C (n.*1827A>C) c.1748A>C (p.Asn583Thr) c.2414A>C (p.Asn805Thr) c.2444A>C (p.Asn815Thr) | |
| 5 | g.38955602T>A | CA359563354 | RICTOR | c.2602A>T (p.Asn868Tyr) c.562A>T (p.Asn188Tyr) c.2554A>T (p.Asn852Tyr) n.562A>T c.*1826A>T (n.*1826A>T) c.1747A>T (p.Asn583Tyr) c.2413A>T (p.Asn805Tyr) c.2443A>T (p.Asn815Tyr) | |
| 5 | g.38955602T>C | CA359563358 | RICTOR | c.2602A>G (p.Asn868Asp) c.562A>G (p.Asn188Asp) c.2554A>G (p.Asn852Asp) n.562A>G c.*1826A>G (n.*1826A>G) c.1747A>G (p.Asn583Asp) c.2413A>G (p.Asn805Asp) c.2443A>G (p.Asn815Asp) | gnomAD v4 |
| 5 | g.38955602T>G | CA359563356 | RICTOR | c.2602A>C (p.Asn868His) c.562A>C (p.Asn188His) c.2554A>C (p.Asn852His) n.562A>C c.*1826A>C (n.*1826A>C) c.1747A>C (p.Asn583His) c.2413A>C (p.Asn805His) c.2443A>C (p.Asn815His) | |
| 5 | g.38955603A>C | CA359563361 | RICTOR | c.2601T>G (p.Ser867Arg) c.561T>G (p.Ser187Arg) c.2553T>G (p.Ser851Arg) n.561T>G c.*1825T>G (n.*1825T>G) c.1746T>G (p.Ser582Arg) c.2412T>G (p.Ser804Arg) c.2442T>G (p.Ser814Arg) | |
| 5 | g.38955603A>G | CA443950927 | RICTOR | c.2601T>C (p.Ser867=) c.561T>C (p.Ser187=) c.2553T>C (p.Ser851=) n.561T>C c.*1825T>C (n.*1825T>C) c.1746T>C (p.Ser582=) c.2412T>C (p.Ser804=) c.2442T>C (p.Ser814=) | |
| 5 | g.38955603A>T | CA359563363 | RICTOR | c.2601T>A (p.Ser867Arg) c.561T>A (p.Ser187Arg) c.2553T>A (p.Ser851Arg) n.561T>A c.*1825T>A (n.*1825T>A) c.1746T>A (p.Ser582Arg) c.2412T>A (p.Ser804Arg) c.2442T>A (p.Ser814Arg) | |
| 5 | g.38955604C>A | CA359563366 | RICTOR | c.2600G>T (p.Ser867Ile) c.560G>T (p.Ser187Ile) c.2552G>T (p.Ser851Ile) n.560G>T c.*1824G>T (n.*1824G>T) c.1745G>T (p.Ser582Ile) c.2411G>T (p.Ser804Ile) c.2441G>T (p.Ser814Ile) | |
| 5 | g.38955604C>G | CA359563368 | RICTOR | c.2600G>C (p.Ser867Thr) c.560G>C (p.Ser187Thr) c.2552G>C (p.Ser851Thr) n.560G>C c.*1824G>C (n.*1824G>C) c.1745G>C (p.Ser582Thr) c.2411G>C (p.Ser804Thr) c.2441G>C (p.Ser814Thr) | |
| 5 | g.38955604C>T | CA359563370 | RICTOR | c.2600G>A (p.Ser867Asn) c.560G>A (p.Ser187Asn) c.2552G>A (p.Ser851Asn) n.560G>A c.*1824G>A (n.*1824G>A) c.1745G>A (p.Ser582Asn) c.2411G>A (p.Ser804Asn) c.2441G>A (p.Ser814Asn) | gnomAD v4 |
| 5 | g.38955605T>A | CA359563373 | RICTOR | c.2599A>T (p.Ser867Cys) c.559A>T (p.Ser187Cys) c.2551A>T (p.Ser851Cys) n.559A>T c.*1823A>T (n.*1823A>T) c.1744A>T (p.Ser582Cys) c.2410A>T (p.Ser804Cys) c.2440A>T (p.Ser814Cys) | gnomAD v4 |
| 5 | g.38955605T>C | CA3245091 | RICTOR | c.2599A>G (p.Ser867Gly) c.559A>G (p.Ser187Gly) c.2551A>G (p.Ser851Gly) n.559A>G c.*1823A>G (n.*1823A>G) c.1744A>G (p.Ser582Gly) c.2410A>G (p.Ser804Gly) c.2440A>G (p.Ser814Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38955605T>G | CA359563376 | RICTOR | c.2599A>C (p.Ser867Arg) c.559A>C (p.Ser187Arg) c.2551A>C (p.Ser851Arg) n.559A>C c.*1823A>C (n.*1823A>C) c.1744A>C (p.Ser582Arg) c.2410A>C (p.Ser804Arg) c.2440A>C (p.Ser814Arg) | |
| 5 | g.38955605T= | CA1540476078 | RICTOR | c.2599A= (p.Ser867=) c.559A= (p.Ser187=) c.2551A= (p.Ser851=) n.559A= c.*1823A= (n.*1823A=) c.1744A= (p.Ser582=) c.2410A= (p.Ser804=) c.2440A= (p.Ser814=) | |
| 5 | g.38955606C>A | CA443950928 | RICTOR | c.2598G>T (p.Arg866=) c.558G>T (p.Arg186=) c.2550G>T (p.Arg850=) n.558G>T c.*1822G>T (n.*1822G>T) c.1743G>T (p.Arg581=) c.2409G>T (p.Arg803=) c.2439G>T (p.Arg813=) | gnomAD v4 |
| 5 | g.38955606C= | CA1540476079 | RICTOR | c.2598G= (p.Arg866=) c.558G= (p.Arg186=) c.2550G= (p.Arg850=) n.558G= c.*1822G= (n.*1822G=) c.1743G= (p.Arg581=) c.2409G= (p.Arg803=) c.2439G= (p.Arg813=) | |
| 5 | g.38955606C>G | CA443950930 | RICTOR | c.2598G>C (p.Arg866=) c.558G>C (p.Arg186=) c.2550G>C (p.Arg850=) n.558G>C c.*1822G>C (n.*1822G>C) c.1743G>C (p.Arg581=) c.2409G>C (p.Arg803=) c.2439G>C (p.Arg813=) | |
| 5 | g.38955606C>T | CA443950929 | RICTOR | c.2598G>A (p.Arg866=) c.558G>A (p.Arg186=) c.2550G>A (p.Arg850=) n.558G>A c.*1822G>A (n.*1822G>A) c.1743G>A (p.Arg581=) c.2409G>A (p.Arg803=) c.2439G>A (p.Arg813=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38955607C>A | CA359563377 | RICTOR | c.2597G>T (p.Arg866Leu) c.557G>T (p.Arg186Leu) c.2549G>T (p.Arg850Leu) n.557G>T c.*1821G>T (n.*1821G>T) c.1742G>T (p.Arg581Leu) c.2408G>T (p.Arg803Leu) c.2438G>T (p.Arg813Leu) | |
| 5 | g.38955607C= | CA1540476080 | RICTOR | c.2597G= (p.Arg866=) c.557G= (p.Arg186=) c.2549G= (p.Arg850=) n.557G= c.*1821G= (n.*1821G=) c.1742G= (p.Arg581=) c.2408G= (p.Arg803=) c.2438G= (p.Arg813=) | |
| 5 | g.38955607C>G | CA359563380 | RICTOR | c.2597G>C (p.Arg866Pro) c.557G>C (p.Arg186Pro) c.2549G>C (p.Arg850Pro) n.557G>C c.*1821G>C (n.*1821G>C) c.1742G>C (p.Arg581Pro) c.2408G>C (p.Arg803Pro) c.2438G>C (p.Arg813Pro) | |
| 5 | g.38955607C>T | CA3245092 | RICTOR | c.2597G>A (p.Arg866Gln) c.557G>A (p.Arg186Gln) c.2549G>A (p.Arg850Gln) n.557G>A c.*1821G>A (n.*1821G>A) c.1742G>A (p.Arg581Gln) c.2408G>A (p.Arg803Gln) c.2438G>A (p.Arg813Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38955608G>A | CA3245093 | RICTOR | c.2596C>T (p.Arg866Trp) c.556C>T (p.Arg186Trp) c.2548C>T (p.Arg850Trp) n.556C>T c.*1820C>T (n.*1820C>T) c.1741C>T (p.Arg581Trp) c.2407C>T (p.Arg803Trp) c.2437C>T (p.Arg813Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38955608G>C | CA359563385 | RICTOR | c.2596C>G (p.Arg866Gly) c.556C>G (p.Arg186Gly) c.2548C>G (p.Arg850Gly) n.556C>G c.*1820C>G (n.*1820C>G) c.1741C>G (p.Arg581Gly) c.2407C>G (p.Arg803Gly) c.2437C>G (p.Arg813Gly) |