| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16989751_16989761del | CA2580612552 | ATP13A2 | c.2540_2550del (p.Gln847LeufsTer7) c.2408_2418del (p.Gln803LeufsTer7) c.2525_2535del (p.Gln842LeufsTer7) n.414_424del c.128_138del (p.Gln43LeufsTer7) c.2537_2547del (p.Gln846LeufsTer7) c.2513_2523del (p.Gln838LeufsTer7) c.2480_2490del (p.Gln827LeufsTer7) c.2423_2433del (p.Gln808LeufsTer7) c.2522_2532del (p.Gln841LeufsTer7) c.2498_2508del (p.Gln833LeufsTer7) c.2333_2343del (p.Gln778LeufsTer7) c.2495_2505del (p.Gln832LeufsTer7) | ClinVar |
| 1 | g.16989761G>A | CA338239829 | ATP13A2 | c.2539C>T (p.Gln847Ter) c.2407C>T (p.Gln803Ter) c.2524C>T (p.Gln842Ter) n.413C>T c.127C>T (p.Gln43Ter) c.2536C>T (p.Gln846Ter) c.2512C>T (p.Gln838Ter) c.2479C>T (p.Gln827Ter) c.2422C>T (p.Gln808Ter) c.2521C>T (p.Gln841Ter) c.2497C>T (p.Gln833Ter) c.2332C>T (p.Gln778Ter) c.2494C>T (p.Gln832Ter) | |
| 1 | g.16989761G>C | CA338239830 | ATP13A2 | c.2539C>G (p.Gln847Glu) c.2407C>G (p.Gln803Glu) c.2524C>G (p.Gln842Glu) n.413C>G c.127C>G (p.Gln43Glu) c.2536C>G (p.Gln846Glu) c.2512C>G (p.Gln838Glu) c.2479C>G (p.Gln827Glu) c.2422C>G (p.Gln808Glu) c.2521C>G (p.Gln841Glu) c.2497C>G (p.Gln833Glu) c.2332C>G (p.Gln778Glu) c.2494C>G (p.Gln832Glu) | |
| 1 | g.16989761G>T | CA338239834 | ATP13A2 | c.2539C>A (p.Gln847Lys) c.2407C>A (p.Gln803Lys) c.2524C>A (p.Gln842Lys) n.413C>A c.127C>A (p.Gln43Lys) c.2536C>A (p.Gln846Lys) c.2512C>A (p.Gln838Lys) c.2479C>A (p.Gln827Lys) c.2422C>A (p.Gln808Lys) c.2521C>A (p.Gln841Lys) c.2497C>A (p.Gln833Lys) c.2332C>A (p.Gln778Lys) c.2494C>A (p.Gln832Lys) | |
| 1 | g.16989762G>A | CA416094098 | ATP13A2 | c.2538C>T (p.Val846=) c.2406C>T (p.Val802=) c.2523C>T (p.Val841=) n.412C>T c.126C>T (p.Val42=) c.2535C>T (p.Val845=) c.2511C>T (p.Val837=) c.2478C>T (p.Val826=) c.2421C>T (p.Val807=) c.2520C>T (p.Val840=) c.2496C>T (p.Val832=) c.2331C>T (p.Val777=) c.2493C>T (p.Val831=) | dbSNP gnomAD v4 |
| 1 | g.16989762G>C | CA416094099 | ATP13A2 | c.2538C>G (p.Val846=) c.2406C>G (p.Val802=) c.2523C>G (p.Val841=) n.412C>G c.126C>G (p.Val42=) c.2535C>G (p.Val845=) c.2511C>G (p.Val837=) c.2478C>G (p.Val826=) c.2421C>G (p.Val807=) c.2520C>G (p.Val840=) c.2496C>G (p.Val832=) c.2331C>G (p.Val777=) c.2493C>G (p.Val831=) | ClinVar dbSNP |
| 1 | g.16989762G= | CA1156021109 | ATP13A2 | c.2538C= (p.Val846=) c.2406C= (p.Val802=) c.2523C= (p.Val841=) n.412C= c.126C= (p.Val42=) c.2535C= (p.Val845=) c.2511C= (p.Val837=) c.2478C= (p.Val826=) c.2421C= (p.Val807=) c.2520C= (p.Val840=) c.2496C= (p.Val832=) c.2331C= (p.Val777=) c.2493C= (p.Val831=) | |
| 1 | g.16989762G>T | CA416094100 | ATP13A2 | c.2538C>A (p.Val846=) c.2406C>A (p.Val802=) c.2523C>A (p.Val841=) n.412C>A c.126C>A (p.Val42=) c.2535C>A (p.Val845=) c.2511C>A (p.Val837=) c.2478C>A (p.Val826=) c.2421C>A (p.Val807=) c.2520C>A (p.Val840=) c.2496C>A (p.Val832=) c.2331C>A (p.Val777=) c.2493C>A (p.Val831=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16989763A>C | CA338239836 | ATP13A2 | c.2537T>G (p.Val846Gly) c.2405T>G (p.Val802Gly) c.2522T>G (p.Val841Gly) n.411T>G c.125T>G (p.Val42Gly) c.2534T>G (p.Val845Gly) c.2510T>G (p.Val837Gly) c.2477T>G (p.Val826Gly) c.2420T>G (p.Val807Gly) c.2519T>G (p.Val840Gly) c.2495T>G (p.Val832Gly) c.2330T>G (p.Val777Gly) c.2492T>G (p.Val831Gly) | |
| 1 | g.16989763A>G | CA338239838 | ATP13A2 | c.2537T>C (p.Val846Ala) c.2405T>C (p.Val802Ala) c.2522T>C (p.Val841Ala) n.411T>C c.125T>C (p.Val42Ala) c.2534T>C (p.Val845Ala) c.2510T>C (p.Val837Ala) c.2477T>C (p.Val826Ala) c.2420T>C (p.Val807Ala) c.2519T>C (p.Val840Ala) c.2495T>C (p.Val832Ala) c.2330T>C (p.Val777Ala) c.2492T>C (p.Val831Ala) | |
| 1 | g.16989763A>T | CA338239841 | ATP13A2 | c.2537T>A (p.Val846Asp) c.2405T>A (p.Val802Asp) c.2522T>A (p.Val841Asp) n.411T>A c.125T>A (p.Val42Asp) c.2534T>A (p.Val845Asp) c.2510T>A (p.Val837Asp) c.2477T>A (p.Val826Asp) c.2420T>A (p.Val807Asp) c.2519T>A (p.Val840Asp) c.2495T>A (p.Val832Asp) c.2330T>A (p.Val777Asp) c.2492T>A (p.Val831Asp) | |
| 1 | g.16989764C>A | CA338239844 | ATP13A2 | c.2536G>T (p.Val846Phe) c.2404G>T (p.Val802Phe) c.2521G>T (p.Val841Phe) n.410G>T c.124G>T (p.Val42Phe) c.2533G>T (p.Val845Phe) c.2509G>T (p.Val837Phe) c.2476G>T (p.Val826Phe) c.2419G>T (p.Val807Phe) c.2518G>T (p.Val840Phe) c.2494G>T (p.Val832Phe) c.2329G>T (p.Val777Phe) c.2491G>T (p.Val831Phe) | |
| 1 | g.16989764C= | CA1156021113 | ATP13A2 | c.2536G= (p.Val846=) c.2404G= (p.Val802=) c.2521G= (p.Val841=) n.410G= c.124G= (p.Val42=) c.2533G= (p.Val845=) c.2509G= (p.Val837=) c.2476G= (p.Val826=) c.2419G= (p.Val807=) c.2518G= (p.Val840=) c.2494G= (p.Val832=) c.2329G= (p.Val777=) c.2491G= (p.Val831=) | |
| 1 | g.16989764C>G | CA338239856 | ATP13A2 | c.2536G>C (p.Val846Leu) c.2404G>C (p.Val802Leu) c.2521G>C (p.Val841Leu) n.410G>C c.124G>C (p.Val42Leu) c.2533G>C (p.Val845Leu) c.2509G>C (p.Val837Leu) c.2476G>C (p.Val826Leu) c.2419G>C (p.Val807Leu) c.2518G>C (p.Val840Leu) c.2494G>C (p.Val832Leu) c.2329G>C (p.Val777Leu) c.2491G>C (p.Val831Leu) | |
| 1 | g.16989764C>T | CA18628843 | ATP13A2 | c.2536G>A (p.Val846Ile) c.2404G>A (p.Val802Ile) c.2521G>A (p.Val841Ile) n.410G>A c.124G>A (p.Val42Ile) c.2533G>A (p.Val845Ile) c.2509G>A (p.Val837Ile) c.2476G>A (p.Val826Ile) c.2419G>A (p.Val807Ile) c.2518G>A (p.Val840Ile) c.2494G>A (p.Val832Ile) c.2329G>A (p.Val777Ile) c.2491G>A (p.Val831Ile) | dbSNP |
| 1 | g.16989765C>A | CA416094104 | ATP13A2 | c.2535G>T (p.Leu845=) c.2403G>T (p.Leu801=) c.2520G>T (p.Leu840=) n.409G>T c.123G>T (p.Leu41=) c.2532G>T (p.Leu844=) c.2508G>T (p.Leu836=) c.2475G>T (p.Leu825=) c.2418G>T (p.Leu806=) c.2517G>T (p.Leu839=) c.2493G>T (p.Leu831=) c.2328G>T (p.Leu776=) c.2490G>T (p.Leu830=) | |
| 1 | g.16989765C= | CA1156021114 | ATP13A2 | c.2535G= (p.Leu845=) c.2403G= (p.Leu801=) c.2520G= (p.Leu840=) n.409G= c.123G= (p.Leu41=) c.2532G= (p.Leu844=) c.2508G= (p.Leu836=) c.2475G= (p.Leu825=) c.2418G= (p.Leu806=) c.2517G= (p.Leu839=) c.2493G= (p.Leu831=) c.2328G= (p.Leu776=) c.2490G= (p.Leu830=) | |
| 1 | g.16989765C>G | CA416094105 | ATP13A2 | c.2535G>C (p.Leu845=) c.2403G>C (p.Leu801=) c.2520G>C (p.Leu840=) n.409G>C c.123G>C (p.Leu41=) c.2532G>C (p.Leu844=) c.2508G>C (p.Leu836=) c.2475G>C (p.Leu825=) c.2418G>C (p.Leu806=) c.2517G>C (p.Leu839=) c.2493G>C (p.Leu831=) c.2328G>C (p.Leu776=) c.2490G>C (p.Leu830=) | |
| 1 | g.16989765C>T | CA636789 | ATP13A2 | c.2535G>A (p.Leu845=) c.2403G>A (p.Leu801=) c.2520G>A (p.Leu840=) n.409G>A c.123G>A (p.Leu41=) c.2532G>A (p.Leu844=) c.2508G>A (p.Leu836=) c.2475G>A (p.Leu825=) c.2418G>A (p.Leu806=) c.2517G>A (p.Leu839=) c.2493G>A (p.Leu831=) c.2328G>A (p.Leu776=) c.2490G>A (p.Leu830=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16989766A>C | CA338239871 | ATP13A2 | c.2534T>G (p.Leu845Arg) c.2402T>G (p.Leu801Arg) c.2519T>G (p.Leu840Arg) n.408T>G c.122T>G (p.Leu41Arg) c.2531T>G (p.Leu844Arg) c.2507T>G (p.Leu836Arg) c.2474T>G (p.Leu825Arg) c.2417T>G (p.Leu806Arg) c.2516T>G (p.Leu839Arg) c.2492T>G (p.Leu831Arg) c.2327T>G (p.Leu776Arg) c.2489T>G (p.Leu830Arg) | |
| 1 | g.16989766A>G | CA338239864 | ATP13A2 | c.2534T>C (p.Leu845Pro) c.2402T>C (p.Leu801Pro) c.2519T>C (p.Leu840Pro) n.408T>C c.122T>C (p.Leu41Pro) c.2531T>C (p.Leu844Pro) c.2507T>C (p.Leu836Pro) c.2474T>C (p.Leu825Pro) c.2417T>C (p.Leu806Pro) c.2516T>C (p.Leu839Pro) c.2492T>C (p.Leu831Pro) c.2327T>C (p.Leu776Pro) c.2489T>C (p.Leu830Pro) | |
| 1 | g.16989766A>T | CA338239869 | ATP13A2 | c.2534T>A (p.Leu845Gln) c.2402T>A (p.Leu801Gln) c.2519T>A (p.Leu840Gln) n.408T>A c.122T>A (p.Leu41Gln) c.2531T>A (p.Leu844Gln) c.2507T>A (p.Leu836Gln) c.2474T>A (p.Leu825Gln) c.2417T>A (p.Leu806Gln) c.2516T>A (p.Leu839Gln) c.2492T>A (p.Leu831Gln) c.2327T>A (p.Leu776Gln) c.2489T>A (p.Leu830Gln) | gnomAD v4 |
| 1 | g.16989767G>A | CA416094106 | ATP13A2 | c.2533C>T (p.Leu845=) c.2401C>T (p.Leu801=) c.2518C>T (p.Leu840=) n.407C>T c.121C>T (p.Leu41=) c.2530C>T (p.Leu844=) c.2506C>T (p.Leu836=) c.2473C>T (p.Leu825=) c.2416C>T (p.Leu806=) c.2515C>T (p.Leu839=) c.2491C>T (p.Leu831=) c.2326C>T (p.Leu776=) c.2488C>T (p.Leu830=) | |
| 1 | g.16989767G>C | CA338239877 | ATP13A2 | c.2533C>G (p.Leu845Val) c.2401C>G (p.Leu801Val) c.2518C>G (p.Leu840Val) n.407C>G c.121C>G (p.Leu41Val) c.2530C>G (p.Leu844Val) c.2506C>G (p.Leu836Val) c.2473C>G (p.Leu825Val) c.2416C>G (p.Leu806Val) c.2515C>G (p.Leu839Val) c.2491C>G (p.Leu831Val) c.2326C>G (p.Leu776Val) c.2488C>G (p.Leu830Val) | gnomAD v4 |
| 1 | g.16989767G>T | CA338239883 | ATP13A2 | c.2533C>A (p.Leu845Met) c.2401C>A (p.Leu801Met) c.2518C>A (p.Leu840Met) n.407C>A c.121C>A (p.Leu41Met) c.2530C>A (p.Leu844Met) c.2506C>A (p.Leu836Met) c.2473C>A (p.Leu825Met) c.2416C>A (p.Leu806Met) c.2515C>A (p.Leu839Met) c.2491C>A (p.Leu831Met) c.2326C>A (p.Leu776Met) c.2488C>A (p.Leu830Met) | |
| 1 | g.16989768G>A | CA416094107 | ATP13A2 | c.2532C>T (p.Val844=) c.2400C>T (p.Val800=) c.2517C>T (p.Val839=) n.406C>T c.120C>T (p.Val40=) c.2529C>T (p.Val843=) c.2505C>T (p.Val835=) c.2472C>T (p.Val824=) c.2415C>T (p.Val805=) c.2514C>T (p.Val838=) c.2490C>T (p.Val830=) c.2325C>T (p.Val775=) c.2487C>T (p.Val829=) | |
| 1 | g.16989768G>C | CA416094109 | ATP13A2 | c.2532C>G (p.Val844=) c.2400C>G (p.Val800=) c.2517C>G (p.Val839=) n.406C>G c.120C>G (p.Val40=) c.2529C>G (p.Val843=) c.2505C>G (p.Val835=) c.2472C>G (p.Val824=) c.2415C>G (p.Val805=) c.2514C>G (p.Val838=) c.2490C>G (p.Val830=) c.2325C>G (p.Val775=) c.2487C>G (p.Val829=) | |
| 1 | g.16989768G= | CA1156021120 | ATP13A2 | c.2532C= (p.Val844=) c.2400C= (p.Val800=) c.2517C= (p.Val839=) n.406C= c.120C= (p.Val40=) c.2529C= (p.Val843=) c.2505C= (p.Val835=) c.2472C= (p.Val824=) c.2415C= (p.Val805=) c.2514C= (p.Val838=) c.2490C= (p.Val830=) c.2325C= (p.Val775=) c.2487C= (p.Val829=) | |
| 1 | g.16989768G>T | CA416094108 | ATP13A2 | c.2532C>A (p.Val844=) c.2400C>A (p.Val800=) c.2517C>A (p.Val839=) n.406C>A c.120C>A (p.Val40=) c.2529C>A (p.Val843=) c.2505C>A (p.Val835=) c.2472C>A (p.Val824=) c.2415C>A (p.Val805=) c.2514C>A (p.Val838=) c.2490C>A (p.Val830=) c.2325C>A (p.Val775=) c.2487C>A (p.Val829=) | dbSNP |
| 1 | g.16989769A>C | CA338239888 | ATP13A2 | c.2531T>G (p.Val844Gly) c.2399T>G (p.Val800Gly) c.2516T>G (p.Val839Gly) n.405T>G c.119T>G (p.Val40Gly) c.2528T>G (p.Val843Gly) c.2504T>G (p.Val835Gly) c.2471T>G (p.Val824Gly) c.2414T>G (p.Val805Gly) c.2513T>G (p.Val838Gly) c.2489T>G (p.Val830Gly) c.2324T>G (p.Val775Gly) c.2486T>G (p.Val829Gly) | |
| 1 | g.16989769A>G | CA338239891 | ATP13A2 | c.2531T>C (p.Val844Ala) c.2399T>C (p.Val800Ala) c.2516T>C (p.Val839Ala) n.405T>C c.119T>C (p.Val40Ala) c.2528T>C (p.Val843Ala) c.2504T>C (p.Val835Ala) c.2471T>C (p.Val824Ala) c.2414T>C (p.Val805Ala) c.2513T>C (p.Val838Ala) c.2489T>C (p.Val830Ala) c.2324T>C (p.Val775Ala) c.2486T>C (p.Val829Ala) | |
| 1 | g.16989769A>T | CA338239893 | ATP13A2 | c.2531T>A (p.Val844Asp) c.2399T>A (p.Val800Asp) c.2516T>A (p.Val839Asp) n.405T>A c.119T>A (p.Val40Asp) c.2528T>A (p.Val843Asp) c.2504T>A (p.Val835Asp) c.2471T>A (p.Val824Asp) c.2414T>A (p.Val805Asp) c.2513T>A (p.Val838Asp) c.2489T>A (p.Val830Asp) c.2324T>A (p.Val775Asp) c.2486T>A (p.Val829Asp) | |
| 1 | g.16989770C>A | CA338239894 | ATP13A2 | c.2530G>T (p.Val844Phe) c.2398G>T (p.Val800Phe) c.2515G>T (p.Val839Phe) n.404G>T c.118G>T (p.Val40Phe) c.2527G>T (p.Val843Phe) c.2503G>T (p.Val835Phe) c.2470G>T (p.Val824Phe) c.2413G>T (p.Val805Phe) c.2512G>T (p.Val838Phe) c.2488G>T (p.Val830Phe) c.2323G>T (p.Val775Phe) c.2485G>T (p.Val829Phe) | |
| 1 | g.16989770C>G | CA338239904 | ATP13A2 | c.2530G>C (p.Val844Leu) c.2398G>C (p.Val800Leu) c.2515G>C (p.Val839Leu) n.404G>C c.118G>C (p.Val40Leu) c.2527G>C (p.Val843Leu) c.2503G>C (p.Val835Leu) c.2470G>C (p.Val824Leu) c.2413G>C (p.Val805Leu) c.2512G>C (p.Val838Leu) c.2488G>C (p.Val830Leu) c.2323G>C (p.Val775Leu) c.2485G>C (p.Val829Leu) | |
| 1 | g.16989770C>T | CA338239915 | ATP13A2 | c.2530G>A (p.Val844Ile) c.2398G>A (p.Val800Ile) c.2515G>A (p.Val839Ile) n.404G>A c.118G>A (p.Val40Ile) c.2527G>A (p.Val843Ile) c.2503G>A (p.Val835Ile) c.2470G>A (p.Val824Ile) c.2413G>A (p.Val805Ile) c.2512G>A (p.Val838Ile) c.2488G>A (p.Val830Ile) c.2323G>A (p.Val775Ile) c.2485G>A (p.Val829Ile) | |
| 1 | g.16989771C>A | CA338239920 | ATP13A2 | c.2530-1G>T (n.2530-1G>T) c.2398-1G>T (n.2398-1G>T) c.2515-1G>T (n.2515-1G>T) n.404-1G>T c.118-1G>T (n.118-1G>T) c.2527-1G>T (n.2527-1G>T) c.2503-1G>T (n.2503-1G>T) c.2470-1G>T (n.2470-1G>T) c.2413-1G>T (n.2413-1G>T) c.2512-1G>T (n.2512-1G>T) c.2488-1G>T (n.2488-1G>T) c.2323-1G>T (n.2323-1G>T) c.2485-1G>T (n.2485-1G>T) | |
| 1 | g.16989771C>G | CA338239924 | ATP13A2 | c.2530-1G>C (n.2530-1G>C) c.2398-1G>C (n.2398-1G>C) c.2515-1G>C (n.2515-1G>C) n.404-1G>C c.118-1G>C (n.118-1G>C) c.2527-1G>C (n.2527-1G>C) c.2503-1G>C (n.2503-1G>C) c.2470-1G>C (n.2470-1G>C) c.2413-1G>C (n.2413-1G>C) c.2512-1G>C (n.2512-1G>C) c.2488-1G>C (n.2488-1G>C) c.2323-1G>C (n.2323-1G>C) c.2485-1G>C (n.2485-1G>C) | |
| 1 | g.16989771C>T | CA338239925 | ATP13A2 | c.2530-1G>A (n.2530-1G>A) c.2398-1G>A (n.2398-1G>A) c.2515-1G>A (n.2515-1G>A) n.404-1G>A c.118-1G>A (n.118-1G>A) c.2527-1G>A (n.2527-1G>A) c.2503-1G>A (n.2503-1G>A) c.2470-1G>A (n.2470-1G>A) c.2413-1G>A (n.2413-1G>A) c.2512-1G>A (n.2512-1G>A) c.2488-1G>A (n.2488-1G>A) c.2323-1G>A (n.2323-1G>A) c.2485-1G>A (n.2485-1G>A) | |
| 1 | g.16989772T>A | CA338239942 | ATP13A2 | c.2530-2A>T (n.2530-2A>T) c.2398-2A>T (n.2398-2A>T) c.2515-2A>T (n.2515-2A>T) n.404-2A>T c.118-2A>T (n.118-2A>T) c.2527-2A>T (n.2527-2A>T) c.2503-2A>T (n.2503-2A>T) c.2470-2A>T (n.2470-2A>T) c.2413-2A>T (n.2413-2A>T) c.2512-2A>T (n.2512-2A>T) c.2488-2A>T (n.2488-2A>T) c.2323-2A>T (n.2323-2A>T) c.2485-2A>T (n.2485-2A>T) | |
| 1 | g.16989772T>C | CA338239936 | ATP13A2 | c.2530-2A>G (n.2530-2A>G) c.2398-2A>G (n.2398-2A>G) c.2515-2A>G (n.2515-2A>G) n.404-2A>G c.118-2A>G (n.118-2A>G) c.2527-2A>G (n.2527-2A>G) c.2503-2A>G (n.2503-2A>G) c.2470-2A>G (n.2470-2A>G) c.2413-2A>G (n.2413-2A>G) c.2512-2A>G (n.2512-2A>G) c.2488-2A>G (n.2488-2A>G) c.2323-2A>G (n.2323-2A>G) c.2485-2A>G (n.2485-2A>G) | |
| 1 | g.16989772T>G | CA338239930 | ATP13A2 | c.2530-2A>C (n.2530-2A>C) c.2398-2A>C (n.2398-2A>C) c.2515-2A>C (n.2515-2A>C) n.404-2A>C c.118-2A>C (n.118-2A>C) c.2527-2A>C (n.2527-2A>C) c.2503-2A>C (n.2503-2A>C) c.2470-2A>C (n.2470-2A>C) c.2413-2A>C (n.2413-2A>C) c.2512-2A>C (n.2512-2A>C) c.2488-2A>C (n.2488-2A>C) c.2323-2A>C (n.2323-2A>C) c.2485-2A>C (n.2485-2A>C) | gnomAD v4 |
| 1 | g.16989773G>A | CA636790 | ATP13A2 | c.2530-3C>T (n.2530-3C>T) c.2398-3C>T (n.2398-3C>T) c.2515-3C>T (n.2515-3C>T) n.404-3C>T c.118-3C>T (n.118-3C>T) c.2527-3C>T (n.2527-3C>T) c.2503-3C>T (n.2503-3C>T) c.2470-3C>T (n.2470-3C>T) c.2413-3C>T (n.2413-3C>T) c.2512-3C>T (n.2512-3C>T) c.2488-3C>T (n.2488-3C>T) c.2323-3C>T (n.2323-3C>T) c.2485-3C>T (n.2485-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16989773G= | CA1144090070 | ATP13A2 | c.2530-3C= (n.2530-3C=) c.2398-3C= (n.2398-3C=) c.2515-3C= (n.2515-3C=) n.404-3C= c.118-3C= (n.118-3C=) c.2527-3C= (n.2527-3C=) c.2503-3C= (n.2503-3C=) c.2470-3C= (n.2470-3C=) c.2413-3C= (n.2413-3C=) c.2512-3C= (n.2512-3C=) c.2488-3C= (n.2488-3C=) c.2323-3C= (n.2323-3C=) c.2485-3C= (n.2485-3C=) | |
| 1 | g.16989774G>A | CA1156021134 | ATP13A2 | c.2530-4C>T (n.2530-4C>T) c.2398-4C>T (n.2398-4C>T) c.2515-4C>T (n.2515-4C>T) n.404-4C>T c.118-4C>T (n.118-4C>T) c.2527-4C>T (n.2527-4C>T) c.2503-4C>T (n.2503-4C>T) c.2470-4C>T (n.2470-4C>T) c.2413-4C>T (n.2413-4C>T) c.2512-4C>T (n.2512-4C>T) c.2488-4C>T (n.2488-4C>T) c.2323-4C>T (n.2323-4C>T) c.2485-4C>T (n.2485-4C>T) | dbSNP |
| 1 | g.16989774G= | CA1156021130 | ATP13A2 | c.2530-4C= (n.2530-4C=) c.2398-4C= (n.2398-4C=) c.2515-4C= (n.2515-4C=) n.404-4C= c.118-4C= (n.118-4C=) c.2527-4C= (n.2527-4C=) c.2503-4C= (n.2503-4C=) c.2470-4C= (n.2470-4C=) c.2413-4C= (n.2413-4C=) c.2512-4C= (n.2512-4C=) c.2488-4C= (n.2488-4C=) c.2323-4C= (n.2323-4C=) c.2485-4C= (n.2485-4C=) | |
| 1 | g.16989775G>A | CA521449698 | ATP13A2 | c.2530-5C>T (n.2530-5C>T) c.2398-5C>T (n.2398-5C>T) c.2515-5C>T (n.2515-5C>T) n.404-5C>T c.118-5C>T (n.118-5C>T) c.2527-5C>T (n.2527-5C>T) c.2503-5C>T (n.2503-5C>T) c.2470-5C>T (n.2470-5C>T) c.2413-5C>T (n.2413-5C>T) c.2512-5C>T (n.2512-5C>T) c.2488-5C>T (n.2488-5C>T) c.2323-5C>T (n.2323-5C>T) c.2485-5C>T (n.2485-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16989775G= | CA1156021138 | ATP13A2 | c.2530-5C= (n.2530-5C=) c.2398-5C= (n.2398-5C=) c.2515-5C= (n.2515-5C=) n.404-5C= c.118-5C= (n.118-5C=) c.2527-5C= (n.2527-5C=) c.2503-5C= (n.2503-5C=) c.2470-5C= (n.2470-5C=) c.2413-5C= (n.2413-5C=) c.2512-5C= (n.2512-5C=) c.2488-5C= (n.2488-5C=) c.2323-5C= (n.2323-5C=) c.2485-5C= (n.2485-5C=) | |
| 1 | g.16989776A= | CA1156021141 | ATP13A2 | c.2530-6T= (n.2530-6T=) c.2398-6T= (n.2398-6T=) c.2515-6T= (n.2515-6T=) n.404-6T= c.118-6T= (n.118-6T=) c.2527-6T= (n.2527-6T=) c.2503-6T= (n.2503-6T=) c.2470-6T= (n.2470-6T=) c.2413-6T= (n.2413-6T=) c.2512-6T= (n.2512-6T=) c.2488-6T= (n.2488-6T=) c.2323-6T= (n.2323-6T=) c.2485-6T= (n.2485-6T=) | |
| 1 | g.16989776A>G | CA636791 | ATP13A2 | c.2530-6T>C (n.2530-6T>C) c.2398-6T>C (n.2398-6T>C) c.2515-6T>C (n.2515-6T>C) n.404-6T>C c.118-6T>C (n.118-6T>C) c.2527-6T>C (n.2527-6T>C) c.2503-6T>C (n.2503-6T>C) c.2470-6T>C (n.2470-6T>C) c.2413-6T>C (n.2413-6T>C) c.2512-6T>C (n.2512-6T>C) c.2488-6T>C (n.2488-6T>C) c.2323-6T>C (n.2323-6T>C) c.2485-6T>C (n.2485-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989779A= | CA1143965601 | ATP13A2 | c.2530-9T= (n.2530-9T=) c.2398-9T= (n.2398-9T=) c.2515-9T= (n.2515-9T=) n.404-9T= c.118-9T= (n.118-9T=) c.2527-9T= (n.2527-9T=) c.2503-9T= (n.2503-9T=) c.2470-9T= (n.2470-9T=) c.2413-9T= (n.2413-9T=) c.2512-9T= (n.2512-9T=) c.2488-9T= (n.2488-9T=) c.2323-9T= (n.2323-9T=) c.2485-9T= (n.2485-9T=) |