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 |
|---|---|---|---|---|---|
| 1 | g.16989697T>A | CA338239167 | ATP13A2 | c.2603A>T (p.Lys868Met) c.2471A>T (p.Lys824Met) c.2588A>T (p.Lys863Met) n.477A>T c.191A>T (p.Lys64Met) c.2600A>T (p.Lys867Met) c.2576A>T (p.Lys859Met) c.2543A>T (p.Lys848Met) c.2486A>T (p.Lys829Met) c.2585A>T (p.Lys862Met) c.2561A>T (p.Lys854Met) c.2396A>T (p.Lys799Met) c.2558A>T (p.Lys853Met) | |
| 1 | g.16989697T>C | CA338239169 | ATP13A2 | c.2603A>G (p.Lys868Arg) c.2471A>G (p.Lys824Arg) c.2588A>G (p.Lys863Arg) n.477A>G c.191A>G (p.Lys64Arg) c.2600A>G (p.Lys867Arg) c.2576A>G (p.Lys859Arg) c.2543A>G (p.Lys848Arg) c.2486A>G (p.Lys829Arg) c.2585A>G (p.Lys862Arg) c.2561A>G (p.Lys854Arg) c.2396A>G (p.Lys799Arg) c.2558A>G (p.Lys853Arg) | |
| 1 | g.16989697T>G | CA338239173 | ATP13A2 | c.2603A>C (p.Lys868Thr) c.2471A>C (p.Lys824Thr) c.2588A>C (p.Lys863Thr) n.477A>C c.191A>C (p.Lys64Thr) c.2600A>C (p.Lys867Thr) c.2576A>C (p.Lys859Thr) c.2543A>C (p.Lys848Thr) c.2486A>C (p.Lys829Thr) c.2585A>C (p.Lys862Thr) c.2561A>C (p.Lys854Thr) c.2396A>C (p.Lys799Thr) c.2558A>C (p.Lys853Thr) | |
| 1 | g.16989698T>A | CA338239177 | ATP13A2 | c.2602A>T (p.Lys868Ter) c.2470A>T (p.Lys824Ter) c.2587A>T (p.Lys863Ter) n.476A>T c.190A>T (p.Lys64Ter) c.2599A>T (p.Lys867Ter) c.2575A>T (p.Lys859Ter) c.2542A>T (p.Lys848Ter) c.2485A>T (p.Lys829Ter) c.2584A>T (p.Lys862Ter) c.2560A>T (p.Lys854Ter) c.2395A>T (p.Lys799Ter) c.2557A>T (p.Lys853Ter) | |
| 1 | g.16989698T>C | CA338239184 | ATP13A2 | c.2602A>G (p.Lys868Glu) c.2470A>G (p.Lys824Glu) c.2587A>G (p.Lys863Glu) n.476A>G c.190A>G (p.Lys64Glu) c.2599A>G (p.Lys867Glu) c.2575A>G (p.Lys859Glu) c.2542A>G (p.Lys848Glu) c.2485A>G (p.Lys829Glu) c.2584A>G (p.Lys862Glu) c.2560A>G (p.Lys854Glu) c.2395A>G (p.Lys799Glu) c.2557A>G (p.Lys853Glu) | |
| 1 | g.16989698T>G | CA338239181 | ATP13A2 | c.2602A>C (p.Lys868Gln) c.2470A>C (p.Lys824Gln) c.2587A>C (p.Lys863Gln) n.476A>C c.190A>C (p.Lys64Gln) c.2599A>C (p.Lys867Gln) c.2575A>C (p.Lys859Gln) c.2542A>C (p.Lys848Gln) c.2485A>C (p.Lys829Gln) c.2584A>C (p.Lys862Gln) c.2560A>C (p.Lys854Gln) c.2395A>C (p.Lys799Gln) c.2557A>C (p.Lys853Gln) | |
| 1 | g.16989699C>A | CA338239187 | ATP13A2 | c.2601G>T (p.Gln867His) c.2469G>T (p.Gln823His) c.2586G>T (p.Gln862His) n.475G>T c.189G>T (p.Gln63His) c.2598G>T (p.Gln866His) c.2574G>T (p.Gln858His) c.2541G>T (p.Gln847His) c.2484G>T (p.Gln828His) c.2583G>T (p.Gln861His) c.2559G>T (p.Gln853His) c.2394G>T (p.Gln798His) c.2556G>T (p.Gln852His) | |
| 1 | g.16989699C>G | CA338239191 | ATP13A2 | c.2601G>C (p.Gln867His) c.2469G>C (p.Gln823His) c.2586G>C (p.Gln862His) n.475G>C c.189G>C (p.Gln63His) c.2598G>C (p.Gln866His) c.2574G>C (p.Gln858His) c.2541G>C (p.Gln847His) c.2484G>C (p.Gln828His) c.2583G>C (p.Gln861His) c.2559G>C (p.Gln853His) c.2394G>C (p.Gln798His) c.2556G>C (p.Gln852His) | |
| 1 | g.16989699C>T | CA416094005 | ATP13A2 | c.2601G>A (p.Gln867=) c.2469G>A (p.Gln823=) c.2586G>A (p.Gln862=) n.475G>A c.189G>A (p.Gln63=) c.2598G>A (p.Gln866=) c.2574G>A (p.Gln858=) c.2541G>A (p.Gln847=) c.2484G>A (p.Gln828=) c.2583G>A (p.Gln861=) c.2559G>A (p.Gln853=) c.2394G>A (p.Gln798=) c.2556G>A (p.Gln852=) | |
| 1 | g.16989700T>A | CA338239197 | ATP13A2 | c.2600A>T (p.Gln867Leu) c.2468A>T (p.Gln823Leu) c.2585A>T (p.Gln862Leu) n.474A>T c.188A>T (p.Gln63Leu) c.2597A>T (p.Gln866Leu) c.2573A>T (p.Gln858Leu) c.2540A>T (p.Gln847Leu) c.2483A>T (p.Gln828Leu) c.2582A>T (p.Gln861Leu) c.2558A>T (p.Gln853Leu) c.2393A>T (p.Gln798Leu) c.2555A>T (p.Gln852Leu) | |
| 1 | g.16989700T>C | CA338239202 | ATP13A2 | c.2600A>G (p.Gln867Arg) c.2468A>G (p.Gln823Arg) c.2585A>G (p.Gln862Arg) n.474A>G c.188A>G (p.Gln63Arg) c.2597A>G (p.Gln866Arg) c.2573A>G (p.Gln858Arg) c.2540A>G (p.Gln847Arg) c.2483A>G (p.Gln828Arg) c.2582A>G (p.Gln861Arg) c.2558A>G (p.Gln853Arg) c.2393A>G (p.Gln798Arg) c.2555A>G (p.Gln852Arg) | gnomAD v4 |
| 1 | g.16989700T>G | CA636777 | ATP13A2 | c.2600A>C (p.Gln867Pro) c.2468A>C (p.Gln823Pro) c.2585A>C (p.Gln862Pro) n.474A>C c.188A>C (p.Gln63Pro) c.2597A>C (p.Gln866Pro) c.2573A>C (p.Gln858Pro) c.2540A>C (p.Gln847Pro) c.2483A>C (p.Gln828Pro) c.2582A>C (p.Gln861Pro) c.2558A>C (p.Gln853Pro) c.2393A>C (p.Gln798Pro) c.2555A>C (p.Gln852Pro) | dbSNP ExAC gnomAD v2 |
| 1 | g.16989700T= | CA1156020993 | ATP13A2 | c.2600A= (p.Gln867=) c.2468A= (p.Gln823=) c.2585A= (p.Gln862=) n.474A= c.188A= (p.Gln63=) c.2597A= (p.Gln866=) c.2573A= (p.Gln858=) c.2540A= (p.Gln847=) c.2483A= (p.Gln828=) c.2582A= (p.Gln861=) c.2558A= (p.Gln853=) c.2393A= (p.Gln798=) c.2555A= (p.Gln852=) | |
| 1 | g.16989701G>A | CA636778 | ATP13A2 | c.2599C>T (p.Gln867Ter) c.2467C>T (p.Gln823Ter) c.2584C>T (p.Gln862Ter) n.473C>T c.187C>T (p.Gln63Ter) c.2596C>T (p.Gln866Ter) c.2572C>T (p.Gln858Ter) c.2539C>T (p.Gln847Ter) c.2482C>T (p.Gln828Ter) c.2581C>T (p.Gln861Ter) c.2557C>T (p.Gln853Ter) c.2392C>T (p.Gln798Ter) c.2554C>T (p.Gln852Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16989701G>C | CA338239205 | ATP13A2 | c.2599C>G (p.Gln867Glu) c.2467C>G (p.Gln823Glu) c.2584C>G (p.Gln862Glu) n.473C>G c.187C>G (p.Gln63Glu) c.2596C>G (p.Gln866Glu) c.2572C>G (p.Gln858Glu) c.2539C>G (p.Gln847Glu) c.2482C>G (p.Gln828Glu) c.2581C>G (p.Gln861Glu) c.2557C>G (p.Gln853Glu) c.2392C>G (p.Gln798Glu) c.2554C>G (p.Gln852Glu) | gnomAD v4 |
| 1 | g.16989701G= | CA1156020998 | ATP13A2 | c.2599C= (p.Gln867=) c.2467C= (p.Gln823=) c.2584C= (p.Gln862=) n.473C= c.187C= (p.Gln63=) c.2596C= (p.Gln866=) c.2572C= (p.Gln858=) c.2539C= (p.Gln847=) c.2482C= (p.Gln828=) c.2581C= (p.Gln861=) c.2557C= (p.Gln853=) c.2392C= (p.Gln798=) c.2554C= (p.Gln852=) | |
| 1 | g.16989701G>T | CA338239208 | ATP13A2 | c.2599C>A (p.Gln867Lys) c.2467C>A (p.Gln823Lys) c.2584C>A (p.Gln862Lys) n.473C>A c.187C>A (p.Gln63Lys) c.2596C>A (p.Gln866Lys) c.2572C>A (p.Gln858Lys) c.2539C>A (p.Gln847Lys) c.2482C>A (p.Gln828Lys) c.2581C>A (p.Gln861Lys) c.2557C>A (p.Gln853Lys) c.2392C>A (p.Gln798Lys) c.2554C>A (p.Gln852Lys) | |
| 1 | g.16989702T>A | CA416094007 | ATP13A2 | c.2598A>T (p.Leu866=) c.2466A>T (p.Leu822=) c.2583A>T (p.Leu861=) n.472A>T c.186A>T (p.Leu62=) c.2595A>T (p.Leu865=) c.2571A>T (p.Leu857=) c.2538A>T (p.Leu846=) c.2481A>T (p.Leu827=) c.2580A>T (p.Leu860=) c.2556A>T (p.Leu852=) c.2391A>T (p.Leu797=) c.2553A>T (p.Leu851=) | |
| 1 | g.16989702T>C | CA416094008 | ATP13A2 | c.2598A>G (p.Leu866=) c.2466A>G (p.Leu822=) c.2583A>G (p.Leu861=) n.472A>G c.186A>G (p.Leu62=) c.2595A>G (p.Leu865=) c.2571A>G (p.Leu857=) c.2538A>G (p.Leu846=) c.2481A>G (p.Leu827=) c.2580A>G (p.Leu860=) c.2556A>G (p.Leu852=) c.2391A>G (p.Leu797=) c.2553A>G (p.Leu851=) | |
| 1 | g.16989702T>G | CA416094009 | ATP13A2 | c.2598A>C (p.Leu866=) c.2466A>C (p.Leu822=) c.2583A>C (p.Leu861=) n.472A>C c.186A>C (p.Leu62=) c.2595A>C (p.Leu865=) c.2571A>C (p.Leu857=) c.2538A>C (p.Leu846=) c.2481A>C (p.Leu827=) c.2580A>C (p.Leu860=) c.2556A>C (p.Leu852=) c.2391A>C (p.Leu797=) c.2553A>C (p.Leu851=) | |
| 1 | g.16989703A>C | CA338239211 | ATP13A2 | c.2597T>G (p.Leu866Arg) c.2465T>G (p.Leu822Arg) c.2582T>G (p.Leu861Arg) n.471T>G c.185T>G (p.Leu62Arg) c.2594T>G (p.Leu865Arg) c.2570T>G (p.Leu857Arg) c.2537T>G (p.Leu846Arg) c.2480T>G (p.Leu827Arg) c.2579T>G (p.Leu860Arg) c.2555T>G (p.Leu852Arg) c.2390T>G (p.Leu797Arg) c.2552T>G (p.Leu851Arg) | |
| 1 | g.16989703A>G | CA338239215 | ATP13A2 | c.2597T>C (p.Leu866Pro) c.2465T>C (p.Leu822Pro) c.2582T>C (p.Leu861Pro) n.471T>C c.185T>C (p.Leu62Pro) c.2594T>C (p.Leu865Pro) c.2570T>C (p.Leu857Pro) c.2537T>C (p.Leu846Pro) c.2480T>C (p.Leu827Pro) c.2579T>C (p.Leu860Pro) c.2555T>C (p.Leu852Pro) c.2390T>C (p.Leu797Pro) c.2552T>C (p.Leu851Pro) | gnomAD v4 |
| 1 | g.16989703A>T | CA338239219 | ATP13A2 | c.2597T>A (p.Leu866Gln) c.2465T>A (p.Leu822Gln) c.2582T>A (p.Leu861Gln) n.471T>A c.185T>A (p.Leu62Gln) c.2594T>A (p.Leu865Gln) c.2570T>A (p.Leu857Gln) c.2537T>A (p.Leu846Gln) c.2480T>A (p.Leu827Gln) c.2579T>A (p.Leu860Gln) c.2555T>A (p.Leu852Gln) c.2390T>A (p.Leu797Gln) c.2552T>A (p.Leu851Gln) | |
| 1 | g.16989704G>A | CA416094010 | ATP13A2 | c.2596C>T (p.Leu866=) c.2464C>T (p.Leu822=) c.2581C>T (p.Leu861=) n.470C>T c.184C>T (p.Leu62=) c.2593C>T (p.Leu865=) c.2569C>T (p.Leu857=) c.2536C>T (p.Leu846=) c.2479C>T (p.Leu827=) c.2578C>T (p.Leu860=) c.2554C>T (p.Leu852=) c.2389C>T (p.Leu797=) c.2551C>T (p.Leu851=) | |
| 1 | g.16989704G>C | CA338239222 | ATP13A2 | c.2596C>G (p.Leu866Val) c.2464C>G (p.Leu822Val) c.2581C>G (p.Leu861Val) n.470C>G c.184C>G (p.Leu62Val) c.2593C>G (p.Leu865Val) c.2569C>G (p.Leu857Val) c.2536C>G (p.Leu846Val) c.2479C>G (p.Leu827Val) c.2578C>G (p.Leu860Val) c.2554C>G (p.Leu852Val) c.2389C>G (p.Leu797Val) c.2551C>G (p.Leu851Val) | |
| 1 | g.16989704G>T | CA338239223 | ATP13A2 | c.2596C>A (p.Leu866Ile) c.2464C>A (p.Leu822Ile) c.2581C>A (p.Leu861Ile) n.470C>A c.184C>A (p.Leu62Ile) c.2593C>A (p.Leu865Ile) c.2569C>A (p.Leu857Ile) c.2536C>A (p.Leu846Ile) c.2479C>A (p.Leu827Ile) c.2578C>A (p.Leu860Ile) c.2554C>A (p.Leu852Ile) c.2389C>A (p.Leu797Ile) c.2551C>A (p.Leu851Ile) | gnomAD v4 |
| 1 | g.16989705C>A | CA338239227 | ATP13A2 | c.2595G>T (p.Glu865Asp) c.2463G>T (p.Glu821Asp) c.2580G>T (p.Glu860Asp) n.469G>T c.183G>T (p.Glu61Asp) c.2592G>T (p.Glu864Asp) c.2568G>T (p.Glu856Asp) c.2535G>T (p.Glu845Asp) c.2478G>T (p.Glu826Asp) c.2577G>T (p.Glu859Asp) c.2553G>T (p.Glu851Asp) c.2388G>T (p.Glu796Asp) c.2550G>T (p.Glu850Asp) | |
| 1 | g.16989705C>G | CA338239228 | ATP13A2 | c.2595G>C (p.Glu865Asp) c.2463G>C (p.Glu821Asp) c.2580G>C (p.Glu860Asp) n.469G>C c.183G>C (p.Glu61Asp) c.2592G>C (p.Glu864Asp) c.2568G>C (p.Glu856Asp) c.2535G>C (p.Glu845Asp) c.2478G>C (p.Glu826Asp) c.2577G>C (p.Glu859Asp) c.2553G>C (p.Glu851Asp) c.2388G>C (p.Glu796Asp) c.2550G>C (p.Glu850Asp) | |
| 1 | g.16989705C>T | CA416094011 | ATP13A2 | c.2595G>A (p.Glu865=) c.2463G>A (p.Glu821=) c.2580G>A (p.Glu860=) n.469G>A c.183G>A (p.Glu61=) c.2592G>A (p.Glu864=) c.2568G>A (p.Glu856=) c.2535G>A (p.Glu845=) c.2478G>A (p.Glu826=) c.2577G>A (p.Glu859=) c.2553G>A (p.Glu851=) c.2388G>A (p.Glu796=) c.2550G>A (p.Glu850=) | |
| 1 | g.16989706T>A | CA338239231 | ATP13A2 | c.2594A>T (p.Glu865Val) c.2462A>T (p.Glu821Val) c.2579A>T (p.Glu860Val) n.468A>T c.182A>T (p.Glu61Val) c.2591A>T (p.Glu864Val) c.2567A>T (p.Glu856Val) c.2534A>T (p.Glu845Val) c.2477A>T (p.Glu826Val) c.2576A>T (p.Glu859Val) c.2552A>T (p.Glu851Val) c.2387A>T (p.Glu796Val) c.2549A>T (p.Glu850Val) | COSMIC COSMIC |
| 1 | g.16989706T>C | CA338239233 | ATP13A2 | c.2594A>G (p.Glu865Gly) c.2462A>G (p.Glu821Gly) c.2579A>G (p.Glu860Gly) n.468A>G c.182A>G (p.Glu61Gly) c.2591A>G (p.Glu864Gly) c.2567A>G (p.Glu856Gly) c.2534A>G (p.Glu845Gly) c.2477A>G (p.Glu826Gly) c.2576A>G (p.Glu859Gly) c.2552A>G (p.Glu851Gly) c.2387A>G (p.Glu796Gly) c.2549A>G (p.Glu850Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16989706T>G | CA338239236 | ATP13A2 | c.2594A>C (p.Glu865Ala) c.2462A>C (p.Glu821Ala) c.2579A>C (p.Glu860Ala) n.468A>C c.182A>C (p.Glu61Ala) c.2591A>C (p.Glu864Ala) c.2567A>C (p.Glu856Ala) c.2534A>C (p.Glu845Ala) c.2477A>C (p.Glu826Ala) c.2576A>C (p.Glu859Ala) c.2552A>C (p.Glu851Ala) c.2387A>C (p.Glu796Ala) c.2549A>C (p.Glu850Ala) | |
| 1 | g.16989706T= | CA1156021001 | ATP13A2 | c.2594A= (p.Glu865=) c.2462A= (p.Glu821=) c.2579A= (p.Glu860=) n.468A= c.182A= (p.Glu61=) c.2591A= (p.Glu864=) c.2567A= (p.Glu856=) c.2534A= (p.Glu845=) c.2477A= (p.Glu826=) c.2576A= (p.Glu859=) c.2552A= (p.Glu851=) c.2387A= (p.Glu796=) c.2549A= (p.Glu850=) | |
| 1 | g.16989707C>A | CA338239249 | ATP13A2 | c.2593G>T (p.Glu865Ter) c.2461G>T (p.Glu821Ter) c.2578G>T (p.Glu860Ter) n.467G>T c.181G>T (p.Glu61Ter) c.2590G>T (p.Glu864Ter) c.2566G>T (p.Glu856Ter) c.2533G>T (p.Glu845Ter) c.2476G>T (p.Glu826Ter) c.2575G>T (p.Glu859Ter) c.2551G>T (p.Glu851Ter) c.2386G>T (p.Glu796Ter) c.2548G>T (p.Glu850Ter) | |
| 1 | g.16989707C= | CA1142245732 | ATP13A2 | c.2593G= (p.Glu865=) c.2461G= (p.Glu821=) c.2578G= (p.Glu860=) n.467G= c.181G= (p.Glu61=) c.2590G= (p.Glu864=) c.2566G= (p.Glu856=) c.2533G= (p.Glu845=) c.2476G= (p.Glu826=) c.2575G= (p.Glu859=) c.2551G= (p.Glu851=) c.2386G= (p.Glu796=) c.2548G= (p.Glu850=) | |
| 1 | g.16989707C>G | CA338239242 | ATP13A2 | c.2593G>C (p.Glu865Gln) c.2461G>C (p.Glu821Gln) c.2578G>C (p.Glu860Gln) n.467G>C c.181G>C (p.Glu61Gln) c.2590G>C (p.Glu864Gln) c.2566G>C (p.Glu856Gln) c.2533G>C (p.Glu845Gln) c.2476G>C (p.Glu826Gln) c.2575G>C (p.Glu859Gln) c.2551G>C (p.Glu851Gln) c.2386G>C (p.Glu796Gln) c.2548G>C (p.Glu850Gln) | ClinVar |
| 1 | g.16989707C>T | CA636779 | ATP13A2 | c.2593G>A (p.Glu865Lys) c.2461G>A (p.Glu821Lys) c.2578G>A (p.Glu860Lys) n.467G>A c.181G>A (p.Glu61Lys) c.2590G>A (p.Glu864Lys) c.2566G>A (p.Glu856Lys) c.2533G>A (p.Glu845Lys) c.2476G>A (p.Glu826Lys) c.2575G>A (p.Glu859Lys) c.2551G>A (p.Glu851Lys) c.2386G>A (p.Glu796Lys) c.2548G>A (p.Glu850Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989708G>A | CA636780 | ATP13A2 | c.2592C>T (p.Cys864=) c.2460C>T (p.Cys820=) c.2577C>T (p.Cys859=) n.466C>T c.180C>T (p.Cys60=) c.2589C>T (p.Cys863=) c.2565C>T (p.Cys855=) c.2532C>T (p.Cys844=) c.2475C>T (p.Cys825=) c.2574C>T (p.Cys858=) c.2550C>T (p.Cys850=) c.2385C>T (p.Cys795=) c.2547C>T (p.Cys849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16989708G>C | CA338239258 | ATP13A2 | c.2592C>G (p.Cys864Trp) c.2460C>G (p.Cys820Trp) c.2577C>G (p.Cys859Trp) n.466C>G c.180C>G (p.Cys60Trp) c.2589C>G (p.Cys863Trp) c.2565C>G (p.Cys855Trp) c.2532C>G (p.Cys844Trp) c.2475C>G (p.Cys825Trp) c.2574C>G (p.Cys858Trp) c.2550C>G (p.Cys850Trp) c.2385C>G (p.Cys795Trp) c.2547C>G (p.Cys849Trp) | |
| 1 | g.16989708G= | CA1156021010 | ATP13A2 | c.2592C= (p.Cys864=) c.2460C= (p.Cys820=) c.2577C= (p.Cys859=) n.466C= c.180C= (p.Cys60=) c.2589C= (p.Cys863=) c.2565C= (p.Cys855=) c.2532C= (p.Cys844=) c.2475C= (p.Cys825=) c.2574C= (p.Cys858=) c.2550C= (p.Cys850=) c.2385C= (p.Cys795=) c.2547C= (p.Cys849=) | |
| 1 | g.16989708G>T | CA338239268 | ATP13A2 | c.2592C>A (p.Cys864Ter) c.2460C>A (p.Cys820Ter) c.2577C>A (p.Cys859Ter) n.466C>A c.180C>A (p.Cys60Ter) c.2589C>A (p.Cys863Ter) c.2565C>A (p.Cys855Ter) c.2532C>A (p.Cys844Ter) c.2475C>A (p.Cys825Ter) c.2574C>A (p.Cys858Ter) c.2550C>A (p.Cys850Ter) c.2385C>A (p.Cys795Ter) c.2547C>A (p.Cys849Ter) | gnomAD v4 |
| 1 | g.16989709C>A | CA338239271 | ATP13A2 | c.2591G>T (p.Cys864Phe) c.2459G>T (p.Cys820Phe) c.2576G>T (p.Cys859Phe) n.465G>T c.179G>T (p.Cys60Phe) c.2588G>T (p.Cys863Phe) c.2564G>T (p.Cys855Phe) c.2531G>T (p.Cys844Phe) c.2474G>T (p.Cys825Phe) c.2573G>T (p.Cys858Phe) c.2549G>T (p.Cys850Phe) c.2384G>T (p.Cys795Phe) c.2546G>T (p.Cys849Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989709C= | CA1156021014 | ATP13A2 | c.2591G= (p.Cys864=) c.2459G= (p.Cys820=) c.2576G= (p.Cys859=) n.465G= c.179G= (p.Cys60=) c.2588G= (p.Cys863=) c.2564G= (p.Cys855=) c.2531G= (p.Cys844=) c.2474G= (p.Cys825=) c.2573G= (p.Cys858=) c.2549G= (p.Cys850=) c.2384G= (p.Cys795=) c.2546G= (p.Cys849=) | |
| 1 | g.16989709C>G | CA338239279 | ATP13A2 | c.2591G>C (p.Cys864Ser) c.2459G>C (p.Cys820Ser) c.2576G>C (p.Cys859Ser) n.465G>C c.179G>C (p.Cys60Ser) c.2588G>C (p.Cys863Ser) c.2564G>C (p.Cys855Ser) c.2531G>C (p.Cys844Ser) c.2474G>C (p.Cys825Ser) c.2573G>C (p.Cys858Ser) c.2549G>C (p.Cys850Ser) c.2384G>C (p.Cys795Ser) c.2546G>C (p.Cys849Ser) | |
| 1 | g.16989709C>T | CA338239283 | ATP13A2 | c.2591G>A (p.Cys864Tyr) c.2459G>A (p.Cys820Tyr) c.2576G>A (p.Cys859Tyr) n.465G>A c.179G>A (p.Cys60Tyr) c.2588G>A (p.Cys863Tyr) c.2564G>A (p.Cys855Tyr) c.2531G>A (p.Cys844Tyr) c.2474G>A (p.Cys825Tyr) c.2573G>A (p.Cys858Tyr) c.2549G>A (p.Cys850Tyr) c.2384G>A (p.Cys795Tyr) c.2546G>A (p.Cys849Tyr) | |
| 1 | g.16989710A= | CA1156021016 | ATP13A2 | c.2590T= (p.Cys864=) c.2458T= (p.Cys820=) c.2575T= (p.Cys859=) n.464T= c.178T= (p.Cys60=) c.2587T= (p.Cys863=) c.2563T= (p.Cys855=) c.2530T= (p.Cys844=) c.2473T= (p.Cys825=) c.2572T= (p.Cys858=) c.2548T= (p.Cys850=) c.2383T= (p.Cys795=) c.2545T= (p.Cys849=) | |
| 1 | g.16989710A>C | CA338239291 | ATP13A2 | c.2590T>G (p.Cys864Gly) c.2458T>G (p.Cys820Gly) c.2575T>G (p.Cys859Gly) n.464T>G c.178T>G (p.Cys60Gly) c.2587T>G (p.Cys863Gly) c.2563T>G (p.Cys855Gly) c.2530T>G (p.Cys844Gly) c.2473T>G (p.Cys825Gly) c.2572T>G (p.Cys858Gly) c.2548T>G (p.Cys850Gly) c.2383T>G (p.Cys795Gly) c.2545T>G (p.Cys849Gly) | |
| 1 | g.16989710A>G | CA338239287 | ATP13A2 | c.2590T>C (p.Cys864Arg) c.2458T>C (p.Cys820Arg) c.2575T>C (p.Cys859Arg) n.464T>C c.178T>C (p.Cys60Arg) c.2587T>C (p.Cys863Arg) c.2563T>C (p.Cys855Arg) c.2530T>C (p.Cys844Arg) c.2473T>C (p.Cys825Arg) c.2572T>C (p.Cys858Arg) c.2548T>C (p.Cys850Arg) c.2383T>C (p.Cys795Arg) c.2545T>C (p.Cys849Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989710A>T | CA338239288 | ATP13A2 | c.2590T>A (p.Cys864Ser) c.2458T>A (p.Cys820Ser) c.2575T>A (p.Cys859Ser) n.464T>A c.178T>A (p.Cys60Ser) c.2587T>A (p.Cys863Ser) c.2563T>A (p.Cys855Ser) c.2530T>A (p.Cys844Ser) c.2473T>A (p.Cys825Ser) c.2572T>A (p.Cys858Ser) c.2548T>A (p.Cys850Ser) c.2383T>A (p.Cys795Ser) c.2545T>A (p.Cys849Ser) | |
| 1 | g.16989711C>A | CA416094017 | ATP13A2 | c.2589G>T (p.Val863=) c.2457G>T (p.Val819=) c.2574G>T (p.Val858=) n.463G>T c.177G>T (p.Val59=) c.2586G>T (p.Val862=) c.2562G>T (p.Val854=) c.2529G>T (p.Val843=) c.2472G>T (p.Val824=) c.2571G>T (p.Val857=) c.2547G>T (p.Val849=) c.2382G>T (p.Val794=) c.2544G>T (p.Val848=) |