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.129589847_129589958del | CA2499226364 | OCRL | c.2589_2698+2del c.2472_2581+2del c.2520_2629+2del c.1777_1886+2del c.2023_2132+2del c.2448_2557+2del n.259_368+2del c.2001_2110+2del c.2475_2584+2del c.2451_2560+2del c.2328_2437+2del | ClinVar dbSNP |
| X | g.129589905C>A | CA518546414 | OCRL | c.2647C>A c.2530C>A (p.Arg844=) c.2578C>A c.1835C>A c.2081C>A c.2506C>A (p.Arg836=) n.317C>A c.2059C>A (p.Arg687=) c.2533C>A (p.Arg845=) c.2509C>A (p.Arg837=) c.2386C>A (p.Arg796=) | |
| X | g.129589905C= | CA2458108093 | OCRL | c.2647C= c.2530C= (p.Arg844=) c.2578C= c.1835C= c.2081C= c.2506C= (p.Arg836=) n.317C= c.2059C= (p.Arg687=) c.2533C= (p.Arg845=) c.2509C= (p.Arg837=) c.2386C= (p.Arg796=) | |
| X | g.129589905C>G | CA414632218 | OCRL | c.2647C>G c.2530C>G (p.Arg844Gly) c.2578C>G c.1835C>G c.2081C>G c.2506C>G (p.Arg836Gly) n.317C>G c.2059C>G (p.Arg687Gly) c.2533C>G (p.Arg845Gly) c.2509C>G (p.Arg837Gly) c.2386C>G (p.Arg796Gly) | |
| X | g.129589905C>T | CA255580 | OCRL | c.2647C>T c.2530C>T (p.Arg844Ter) c.2578C>T c.1835C>T c.2081C>T c.2506C>T (p.Arg836Ter) n.317C>T c.2059C>T (p.Arg687Ter) c.2533C>T (p.Arg845Ter) c.2509C>T (p.Arg837Ter) c.2386C>T (p.Arg796Ter) | ClinVar dbSNP COSMIC |
| X | g.129589906G>A | CA10512383 | OCRL | c.2648G>A c.2531G>A (p.Arg844Gln) c.2579G>A c.1836G>A c.2082G>A c.2507G>A (p.Arg836Gln) n.318G>A c.2060G>A (p.Arg687Gln) c.2534G>A (p.Arg845Gln) c.2510G>A (p.Arg837Gln) c.2387G>A (p.Arg796Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129589906G>C | CA414632224 | OCRL | c.2648G>C c.2531G>C (p.Arg844Pro) c.2579G>C c.1836G>C c.2082G>C c.2507G>C (p.Arg836Pro) n.318G>C c.2060G>C (p.Arg687Pro) c.2534G>C (p.Arg845Pro) c.2510G>C (p.Arg837Pro) c.2387G>C (p.Arg796Pro) | |
| X | g.129589906G= | CA2458108094 | OCRL | c.2648G= c.2531G= (p.Arg844=) c.2579G= c.1836G= c.2082G= c.2507G= (p.Arg836=) n.318G= c.2060G= (p.Arg687=) c.2534G= (p.Arg845=) c.2510G= (p.Arg837=) c.2387G= (p.Arg796=) | |
| X | g.129589906G>T | CA414632227 | OCRL | c.2648G>T c.2531G>T (p.Arg844Leu) c.2579G>T c.1836G>T c.2082G>T c.2507G>T (p.Arg836Leu) n.318G>T c.2060G>T (p.Arg687Leu) c.2534G>T (p.Arg845Leu) c.2510G>T (p.Arg837Leu) c.2387G>T (p.Arg796Leu) | |
| X | g.129589906_129589914delinsAAG | CA2695235898 | OCRL | c.2648_2656delinsAAG c.2531_2539delinsAAG (p.Arg844_Leu847delinsGlnVal) c.2579_2587delinsAAG c.1836_1844delinsAAG c.2082_2090delinsAAG c.2507_2515delinsAAG (p.Arg836_Leu839delinsGlnVal) n.318_326delinsAAG c.2060_2068delinsAAG (p.Arg687_Leu690delinsGlnVal) c.2534_2542delinsAAG (p.Arg845_Leu848delinsGlnVal) c.2510_2518delinsAAG (p.Arg837_Leu840delinsGlnVal) c.2387_2395delinsAAG (p.Arg796_Leu799delinsGlnVal) | |
| X | g.129589907A>C | CA518546415 | OCRL | c.2649A>C c.2532A>C (p.Arg844=) c.2580A>C c.1837A>C c.2083A>C c.2508A>C (p.Arg836=) n.319A>C c.2061A>C (p.Arg687=) c.2535A>C (p.Arg845=) c.2511A>C (p.Arg837=) c.2388A>C (p.Arg796=) | |
| X | g.129589907A>G | CA518546416 | OCRL | c.2649A>G c.2532A>G (p.Arg844=) c.2580A>G c.1837A>G c.2083A>G c.2508A>G (p.Arg836=) n.319A>G c.2061A>G (p.Arg687=) c.2535A>G (p.Arg845=) c.2511A>G (p.Arg837=) c.2388A>G (p.Arg796=) | |
| X | g.129589907A>T | CA518546417 | OCRL | c.2649A>T c.2532A>T (p.Arg844=) c.2580A>T c.1837A>T c.2083A>T c.2508A>T (p.Arg836=) n.319A>T c.2061A>T (p.Arg687=) c.2535A>T (p.Arg845=) c.2511A>T (p.Arg837=) c.2388A>T (p.Arg796=) | |
| X | g.129589908G>A | CA414632235 | OCRL | c.2650G>A c.2533G>A (p.Glu845Lys) c.2581G>A c.1838G>A c.2084G>A c.2509G>A (p.Glu837Lys) n.320G>A c.2062G>A (p.Glu688Lys) c.2536G>A (p.Glu846Lys) c.2512G>A (p.Glu838Lys) c.2389G>A (p.Glu797Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129589908G>C | CA10512384 | OCRL | c.2650G>C c.2533G>C (p.Glu845Gln) c.2581G>C c.1838G>C c.2084G>C c.2509G>C (p.Glu837Gln) n.320G>C c.2062G>C (p.Glu688Gln) c.2536G>C (p.Glu846Gln) c.2512G>C (p.Glu838Gln) c.2389G>C (p.Glu797Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129589908G= | CA2458108095 | OCRL | c.2650G= c.2533G= (p.Glu845=) c.2581G= c.1838G= c.2084G= c.2509G= (p.Glu837=) n.320G= c.2062G= (p.Glu688=) c.2536G= (p.Glu846=) c.2512G= (p.Glu838=) c.2389G= (p.Glu797=) | |
| X | g.129589908G>T | CA414632232 | OCRL | c.2650G>T c.2533G>T (p.Glu845Ter) c.2581G>T c.1838G>T c.2084G>T c.2509G>T (p.Glu837Ter) n.320G>T c.2062G>T (p.Glu688Ter) c.2536G>T (p.Glu846Ter) c.2512G>T (p.Glu838Ter) c.2389G>T (p.Glu797Ter) | |
| X | g.129589909A>C | CA414632243 | OCRL | c.2651A>C c.2534A>C (p.Glu845Ala) c.2582A>C c.1839A>C c.2085A>C c.2510A>C (p.Glu837Ala) n.321A>C c.2063A>C (p.Glu688Ala) c.2537A>C (p.Glu846Ala) c.2513A>C (p.Glu838Ala) c.2390A>C (p.Glu797Ala) | |
| X | g.129589909A>G | CA414632249 | OCRL | c.2651A>G c.2534A>G (p.Glu845Gly) c.2582A>G c.1839A>G c.2085A>G c.2510A>G (p.Glu837Gly) n.321A>G c.2063A>G (p.Glu688Gly) c.2537A>G (p.Glu846Gly) c.2513A>G (p.Glu838Gly) c.2390A>G (p.Glu797Gly) | |
| X | g.129589909A>T | CA414632251 | OCRL | c.2651A>T c.2534A>T (p.Glu845Val) c.2582A>T c.1839A>T c.2085A>T c.2510A>T (p.Glu837Val) n.321A>T c.2063A>T (p.Glu688Val) c.2537A>T (p.Glu846Val) c.2513A>T (p.Glu838Val) c.2390A>T (p.Glu797Val) | |
| X | g.129589910del | CA518546418 | OCRL | c.2652del c.2535del (p.Glu845AspfsTer3) c.2583del c.1840del c.2086del c.2511del (p.Glu837AspfsTer3) n.322del c.2064del (p.Glu688AspfsTer3) c.2538del (p.Glu846AspfsTer3) c.2514del (p.Glu838AspfsTer3) c.2391del (p.Glu797AspfsTer3) | |
| X | g.129589910A>C | CA414632253 | OCRL | c.2652A>C c.2535A>C (p.Glu845Asp) c.2583A>C c.1840A>C c.2086A>C c.2511A>C (p.Glu837Asp) n.322A>C c.2064A>C (p.Glu688Asp) c.2538A>C (p.Glu846Asp) c.2514A>C (p.Glu838Asp) c.2391A>C (p.Glu797Asp) | |
| X | g.129589910A>G | CA518546419 | OCRL | c.2652A>G c.2535A>G (p.Glu845=) c.2583A>G c.1840A>G c.2086A>G c.2511A>G (p.Glu837=) n.322A>G c.2064A>G (p.Glu688=) c.2538A>G (p.Glu846=) c.2514A>G (p.Glu838=) c.2391A>G (p.Glu797=) | ClinVar |
| X | g.129589910A>T | CA414632254 | OCRL | c.2652A>T c.2535A>T (p.Glu845Asp) c.2583A>T c.1840A>T c.2086A>T c.2511A>T (p.Glu837Asp) n.322A>T c.2064A>T (p.Glu688Asp) c.2538A>T (p.Glu846Asp) c.2514A>T (p.Glu838Asp) c.2391A>T (p.Glu797Asp) | |
| X | g.129589911C>A | CA414632266 | OCRL | c.2653C>A c.2536C>A (p.Leu846Ile) c.2584C>A c.1841C>A c.2087C>A c.2512C>A (p.Leu838Ile) n.323C>A c.2065C>A (p.Leu689Ile) c.2539C>A (p.Leu847Ile) c.2515C>A (p.Leu839Ile) c.2392C>A (p.Leu798Ile) | |
| X | g.129589911C>G | CA414632258 | OCRL | c.2653C>G c.2536C>G (p.Leu846Val) c.2584C>G c.1841C>G c.2087C>G c.2512C>G (p.Leu838Val) n.323C>G c.2065C>G (p.Leu689Val) c.2539C>G (p.Leu847Val) c.2515C>G (p.Leu839Val) c.2392C>G (p.Leu798Val) | |
| X | g.129589911C>T | CA414632256 | OCRL | c.2653C>T c.2536C>T (p.Leu846Phe) c.2584C>T c.1841C>T c.2087C>T c.2512C>T (p.Leu838Phe) n.323C>T c.2065C>T (p.Leu689Phe) c.2539C>T (p.Leu847Phe) c.2515C>T (p.Leu839Phe) c.2392C>T (p.Leu798Phe) | |
| X | g.129589912T>A | CA414632270 | OCRL | c.2654T>A c.2537T>A (p.Leu846His) c.2585T>A c.1842T>A c.2088T>A c.2513T>A (p.Leu838His) n.324T>A c.2066T>A (p.Leu689His) c.2540T>A (p.Leu847His) c.2516T>A (p.Leu839His) c.2393T>A (p.Leu798His) | |
| X | g.129589912T>C | CA414632273 | OCRL | c.2654T>C c.2537T>C (p.Leu846Pro) c.2585T>C c.1842T>C c.2088T>C c.2513T>C (p.Leu838Pro) n.324T>C c.2066T>C (p.Leu689Pro) c.2540T>C (p.Leu847Pro) c.2516T>C (p.Leu839Pro) c.2393T>C (p.Leu798Pro) | |
| X | g.129589912T>G | CA414632272 | OCRL | c.2654T>G c.2537T>G (p.Leu846Arg) c.2585T>G c.1842T>G c.2088T>G c.2513T>G (p.Leu838Arg) n.324T>G c.2066T>G (p.Leu689Arg) c.2540T>G (p.Leu847Arg) c.2516T>G (p.Leu839Arg) c.2393T>G (p.Leu798Arg) | |
| X | g.129589913C>A | CA518546422 | OCRL | c.2655C>A c.2538C>A (p.Leu846=) c.2586C>A c.1843C>A c.2089C>A c.2514C>A (p.Leu838=) n.325C>A c.2067C>A (p.Leu689=) c.2541C>A (p.Leu847=) c.2517C>A (p.Leu839=) c.2394C>A (p.Leu798=) | |
| X | g.129589913C>G | CA518546421 | OCRL | c.2655C>G c.2538C>G (p.Leu846=) c.2586C>G c.1843C>G c.2089C>G c.2514C>G (p.Leu838=) n.325C>G c.2067C>G (p.Leu689=) c.2541C>G (p.Leu847=) c.2517C>G (p.Leu839=) c.2394C>G (p.Leu798=) | |
| X | g.129589913C>T | CA518546420 | OCRL | c.2655C>T c.2538C>T (p.Leu846=) c.2586C>T c.1843C>T c.2089C>T c.2514C>T (p.Leu838=) n.325C>T c.2067C>T (p.Leu689=) c.2541C>T (p.Leu847=) c.2517C>T (p.Leu839=) c.2394C>T (p.Leu798=) | |
| X | g.129589914T>A | CA414632279 | OCRL | c.2656T>A c.2539T>A (p.Leu847Ile) c.2587T>A c.1844T>A c.2090T>A c.2515T>A (p.Leu839Ile) n.326T>A c.2068T>A (p.Leu690Ile) c.2542T>A (p.Leu848Ile) c.2518T>A (p.Leu840Ile) c.2395T>A (p.Leu799Ile) | |
| X | g.129589914T>C | CA518546423 | OCRL | c.2656T>C c.2539T>C (p.Leu847=) c.2587T>C c.1844T>C c.2090T>C c.2515T>C (p.Leu839=) n.326T>C c.2068T>C (p.Leu690=) c.2542T>C (p.Leu848=) c.2518T>C (p.Leu840=) c.2395T>C (p.Leu799=) | |
| X | g.129589914T>G | CA414632288 | OCRL | c.2656T>G c.2539T>G (p.Leu847Val) c.2587T>G c.1844T>G c.2090T>G c.2515T>G (p.Leu839Val) n.326T>G c.2068T>G (p.Leu690Val) c.2542T>G (p.Leu848Val) c.2518T>G (p.Leu840Val) c.2395T>G (p.Leu799Val) | |
| X | g.129589915T>A | CA414632291 | OCRL | c.2657T>A c.2540T>A (p.Leu847Ter) c.2588T>A c.1845T>A c.2091T>A c.2516T>A (p.Leu839Ter) n.327T>A c.2069T>A (p.Leu690Ter) c.2543T>A (p.Leu848Ter) c.2519T>A (p.Leu840Ter) c.2396T>A (p.Leu799Ter) | |
| X | g.129589915T>C | CA414632302 | OCRL | c.2657T>C c.2540T>C (p.Leu847Ser) c.2588T>C c.1845T>C c.2091T>C c.2516T>C (p.Leu839Ser) n.327T>C c.2069T>C (p.Leu690Ser) c.2543T>C (p.Leu848Ser) c.2519T>C (p.Leu840Ser) c.2396T>C (p.Leu799Ser) | |
| X | g.129589915T>G | CA414632295 | OCRL | c.2657T>G c.2540T>G (p.Leu847Ter) c.2588T>G c.1845T>G c.2091T>G c.2516T>G (p.Leu839Ter) n.327T>G c.2069T>G (p.Leu690Ter) c.2543T>G (p.Leu848Ter) c.2519T>G (p.Leu840Ter) c.2396T>G (p.Leu799Ter) | dbSNP |
| X | g.129589915T= | CA2458108096 | OCRL | c.2657T= c.2540T= (p.Leu847=) c.2588T= c.1845T= c.2091T= c.2516T= (p.Leu839=) n.327T= c.2069T= (p.Leu690=) c.2543T= (p.Leu848=) c.2519T= (p.Leu840=) c.2396T= (p.Leu799=) | |
| X | g.129589916A= | CA2458108097 | OCRL | c.2658A= c.2541A= (p.Leu847=) c.2589A= c.1846A= c.2092A= c.2517A= (p.Leu839=) n.328A= c.2070A= (p.Leu690=) c.2544A= (p.Leu848=) c.2520A= (p.Leu840=) c.2397A= (p.Leu799=) | |
| X | g.129589916A>C | CA414632304 | OCRL | c.2658A>C c.2541A>C (p.Leu847Phe) c.2589A>C c.1846A>C c.2092A>C c.2517A>C (p.Leu839Phe) n.328A>C c.2070A>C (p.Leu690Phe) c.2544A>C (p.Leu848Phe) c.2520A>C (p.Leu840Phe) c.2397A>C (p.Leu799Phe) | |
| X | g.129589916A>G | CA518546424 | OCRL | c.2658A>G c.2541A>G (p.Leu847=) c.2589A>G c.1846A>G c.2092A>G c.2517A>G (p.Leu839=) n.328A>G c.2070A>G (p.Leu690=) c.2544A>G (p.Leu848=) c.2520A>G (p.Leu840=) c.2397A>G (p.Leu799=) | dbSNP |
| X | g.129589916A>T | CA414632307 | OCRL | c.2658A>T c.2541A>T (p.Leu847Phe) c.2589A>T c.1846A>T c.2092A>T c.2517A>T (p.Leu839Phe) n.328A>T c.2070A>T (p.Leu690Phe) c.2544A>T (p.Leu848Phe) c.2520A>T (p.Leu840Phe) c.2397A>T (p.Leu799Phe) | |
| X | g.129589917A>C | CA414632315 | OCRL | c.2659A>C c.2542A>C (p.Lys848Gln) c.2590A>C c.1847A>C c.2093A>C c.2518A>C (p.Lys840Gln) n.329A>C c.2071A>C (p.Lys691Gln) c.2545A>C (p.Lys849Gln) c.2521A>C (p.Lys841Gln) c.2398A>C (p.Lys800Gln) | |
| X | g.129589917A>G | CA414632317 | OCRL | c.2659A>G c.2542A>G (p.Lys848Glu) c.2590A>G c.1847A>G c.2093A>G c.2518A>G (p.Lys840Glu) n.329A>G c.2071A>G (p.Lys691Glu) c.2545A>G (p.Lys849Glu) c.2521A>G (p.Lys841Glu) c.2398A>G (p.Lys800Glu) | |
| X | g.129589917A>T | CA414632318 | OCRL | c.2659A>T c.2542A>T (p.Lys848Ter) c.2590A>T c.1847A>T c.2093A>T c.2518A>T (p.Lys840Ter) n.329A>T c.2071A>T (p.Lys691Ter) c.2545A>T (p.Lys849Ter) c.2521A>T (p.Lys841Ter) c.2398A>T (p.Lys800Ter) | |
| X | g.129589918A>C | CA414632320 | OCRL | c.2660A>C c.2543A>C (p.Lys848Thr) c.2591A>C c.1848A>C c.2094A>C c.2519A>C (p.Lys840Thr) n.330A>C c.2072A>C (p.Lys691Thr) c.2546A>C (p.Lys849Thr) c.2522A>C (p.Lys841Thr) c.2399A>C (p.Lys800Thr) | |
| X | g.129589918A>G | CA414632322 | OCRL | c.2660A>G c.2543A>G (p.Lys848Arg) c.2591A>G c.1848A>G c.2094A>G c.2519A>G (p.Lys840Arg) n.330A>G c.2072A>G (p.Lys691Arg) c.2546A>G (p.Lys849Arg) c.2522A>G (p.Lys841Arg) c.2399A>G (p.Lys800Arg) | |
| X | g.129589918A>T | CA414632325 | OCRL | c.2660A>T c.2543A>T (p.Lys848Ile) c.2591A>T c.1848A>T c.2094A>T c.2519A>T (p.Lys840Ile) n.330A>T c.2072A>T (p.Lys691Ile) c.2546A>T (p.Lys849Ile) c.2522A>T (p.Lys841Ile) c.2399A>T (p.Lys800Ile) |