WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16989742C>A | CA338239655 | ATP13A2 | c.2558G>T (p.Arg853Leu) c.2426G>T (p.Arg809Leu) c.2543G>T (p.Arg848Leu) n.432G>T c.146G>T (p.Arg49Leu) c.2555G>T (p.Arg852Leu) c.2531G>T (p.Arg844Leu) c.2498G>T (p.Arg833Leu) c.2441G>T (p.Arg814Leu) c.2540G>T (p.Arg847Leu) c.2516G>T (p.Arg839Leu) c.2351G>T (p.Arg784Leu) c.2513G>T (p.Arg838Leu) | dbSNP |
| 1 | g.16989742C= | CA1148273885 | ATP13A2 | c.2558G= (p.Arg853=) c.2426G= (p.Arg809=) c.2543G= (p.Arg848=) n.432G= c.146G= (p.Arg49=) c.2555G= (p.Arg852=) c.2531G= (p.Arg844=) c.2498G= (p.Arg833=) c.2441G= (p.Arg814=) c.2540G= (p.Arg847=) c.2516G= (p.Arg839=) c.2351G= (p.Arg784=) c.2513G= (p.Arg838=) | |
| 1 | g.16989742C>G | CA338239659 | ATP13A2 | c.2558G>C (p.Arg853Pro) c.2426G>C (p.Arg809Pro) c.2543G>C (p.Arg848Pro) n.432G>C c.146G>C (p.Arg49Pro) c.2555G>C (p.Arg852Pro) c.2531G>C (p.Arg844Pro) c.2498G>C (p.Arg833Pro) c.2441G>C (p.Arg814Pro) c.2540G>C (p.Arg847Pro) c.2516G>C (p.Arg839Pro) c.2351G>C (p.Arg784Pro) c.2513G>C (p.Arg838Pro) | |
| 1 | g.16989742C>T | CA636784 | ATP13A2 | c.2558G>A (p.Arg853His) c.2426G>A (p.Arg809His) c.2543G>A (p.Arg848His) n.432G>A c.146G>A (p.Arg49His) c.2555G>A (p.Arg852His) c.2531G>A (p.Arg844His) c.2498G>A (p.Arg833His) c.2441G>A (p.Arg814His) c.2540G>A (p.Arg847His) c.2516G>A (p.Arg839His) c.2351G>A (p.Arg784His) c.2513G>A (p.Arg838His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989743G>A | CA636785 | ATP13A2 | c.2557C>T (p.Arg853Cys) c.2425C>T (p.Arg809Cys) c.2542C>T (p.Arg848Cys) n.431C>T c.145C>T (p.Arg49Cys) c.2554C>T (p.Arg852Cys) c.2530C>T (p.Arg844Cys) c.2497C>T (p.Arg833Cys) c.2440C>T (p.Arg814Cys) c.2539C>T (p.Arg847Cys) c.2515C>T (p.Arg839Cys) c.2350C>T (p.Arg784Cys) c.2512C>T (p.Arg838Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16989743G>C | CA338239660 | ATP13A2 | c.2557C>G (p.Arg853Gly) c.2425C>G (p.Arg809Gly) c.2542C>G (p.Arg848Gly) n.431C>G c.145C>G (p.Arg49Gly) c.2554C>G (p.Arg852Gly) c.2530C>G (p.Arg844Gly) c.2497C>G (p.Arg833Gly) c.2440C>G (p.Arg814Gly) c.2539C>G (p.Arg847Gly) c.2515C>G (p.Arg839Gly) c.2350C>G (p.Arg784Gly) c.2512C>G (p.Arg838Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16989743G= | CA1156021084 | ATP13A2 | c.2557C= (p.Arg853=) c.2425C= (p.Arg809=) c.2542C= (p.Arg848=) n.431C= c.145C= (p.Arg49=) c.2554C= (p.Arg852=) c.2530C= (p.Arg844=) c.2497C= (p.Arg833=) c.2440C= (p.Arg814=) c.2539C= (p.Arg847=) c.2515C= (p.Arg839=) c.2350C= (p.Arg784=) c.2512C= (p.Arg838=) | |
| 1 | g.16989743G>T | CA338239661 | ATP13A2 | c.2557C>A (p.Arg853Ser) c.2425C>A (p.Arg809Ser) c.2542C>A (p.Arg848Ser) n.431C>A c.145C>A (p.Arg49Ser) c.2554C>A (p.Arg852Ser) c.2530C>A (p.Arg844Ser) c.2497C>A (p.Arg833Ser) c.2440C>A (p.Arg814Ser) c.2539C>A (p.Arg847Ser) c.2515C>A (p.Arg839Ser) c.2350C>A (p.Arg784Ser) c.2512C>A (p.Arg838Ser) | gnomAD v4 |
| 1 | g.16989744G>A | CA636786 | ATP13A2 | c.2556C>T (p.Ala852=) c.2424C>T (p.Ala808=) c.2541C>T (p.Ala847=) n.430C>T c.144C>T (p.Ala48=) c.2553C>T (p.Ala851=) c.2529C>T (p.Ala843=) c.2496C>T (p.Ala832=) c.2439C>T (p.Ala813=) c.2538C>T (p.Ala846=) c.2514C>T (p.Ala838=) c.2349C>T (p.Ala783=) c.2511C>T (p.Ala837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989744G>C | CA416094067 | ATP13A2 | c.2556C>G (p.Ala852=) c.2424C>G (p.Ala808=) c.2541C>G (p.Ala847=) n.430C>G c.144C>G (p.Ala48=) c.2553C>G (p.Ala851=) c.2529C>G (p.Ala843=) c.2496C>G (p.Ala832=) c.2439C>G (p.Ala813=) c.2538C>G (p.Ala846=) c.2514C>G (p.Ala838=) c.2349C>G (p.Ala783=) c.2511C>G (p.Ala837=) | dbSNP gnomAD v4 |
| 1 | g.16989744G= | CA1140624952 | ATP13A2 | c.2556C= (p.Ala852=) c.2424C= (p.Ala808=) c.2541C= (p.Ala847=) n.430C= c.144C= (p.Ala48=) c.2553C= (p.Ala851=) c.2529C= (p.Ala843=) c.2496C= (p.Ala832=) c.2439C= (p.Ala813=) c.2538C= (p.Ala846=) c.2514C= (p.Ala838=) c.2349C= (p.Ala783=) c.2511C= (p.Ala837=) | |
| 1 | g.16989744G>T | CA416094069 | ATP13A2 | c.2556C>A (p.Ala852=) c.2424C>A (p.Ala808=) c.2541C>A (p.Ala847=) n.430C>A c.144C>A (p.Ala48=) c.2553C>A (p.Ala851=) c.2529C>A (p.Ala843=) c.2496C>A (p.Ala832=) c.2439C>A (p.Ala813=) c.2538C>A (p.Ala846=) c.2514C>A (p.Ala838=) c.2349C>A (p.Ala783=) c.2511C>A (p.Ala837=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16989745G>A | CA338239670 | ATP13A2 | c.2555C>T (p.Ala852Val) c.2423C>T (p.Ala808Val) c.2540C>T (p.Ala847Val) n.429C>T c.143C>T (p.Ala48Val) c.2552C>T (p.Ala851Val) c.2528C>T (p.Ala843Val) c.2495C>T (p.Ala832Val) c.2438C>T (p.Ala813Val) c.2537C>T (p.Ala846Val) c.2513C>T (p.Ala838Val) c.2348C>T (p.Ala783Val) c.2510C>T (p.Ala837Val) | gnomAD v4 |
| 1 | g.16989745G>C | CA338239674 | ATP13A2 | c.2555C>G (p.Ala852Gly) c.2423C>G (p.Ala808Gly) c.2540C>G (p.Ala847Gly) n.429C>G c.143C>G (p.Ala48Gly) c.2552C>G (p.Ala851Gly) c.2528C>G (p.Ala843Gly) c.2495C>G (p.Ala832Gly) c.2438C>G (p.Ala813Gly) c.2537C>G (p.Ala846Gly) c.2513C>G (p.Ala838Gly) c.2348C>G (p.Ala783Gly) c.2510C>G (p.Ala837Gly) | |
| 1 | g.16989745G>T | CA338239666 | ATP13A2 | c.2555C>A (p.Ala852Asp) c.2423C>A (p.Ala808Asp) c.2540C>A (p.Ala847Asp) n.429C>A c.143C>A (p.Ala48Asp) c.2552C>A (p.Ala851Asp) c.2528C>A (p.Ala843Asp) c.2495C>A (p.Ala832Asp) c.2438C>A (p.Ala813Asp) c.2537C>A (p.Ala846Asp) c.2513C>A (p.Ala838Asp) c.2348C>A (p.Ala783Asp) c.2510C>A (p.Ala837Asp) | |
| 1 | g.16989746C>A | CA636787 | ATP13A2 | c.2554G>T (p.Ala852Ser) c.2422G>T (p.Ala808Ser) c.2539G>T (p.Ala847Ser) n.428G>T c.142G>T (p.Ala48Ser) c.2551G>T (p.Ala851Ser) c.2527G>T (p.Ala843Ser) c.2494G>T (p.Ala832Ser) c.2437G>T (p.Ala813Ser) c.2536G>T (p.Ala846Ser) c.2512G>T (p.Ala838Ser) c.2347G>T (p.Ala783Ser) c.2509G>T (p.Ala837Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.16989746C= | CA1148446632 | ATP13A2 | c.2554G= (p.Ala852=) c.2422G= (p.Ala808=) c.2539G= (p.Ala847=) n.428G= c.142G= (p.Ala48=) c.2551G= (p.Ala851=) c.2527G= (p.Ala843=) c.2494G= (p.Ala832=) c.2437G= (p.Ala813=) c.2536G= (p.Ala846=) c.2512G= (p.Ala838=) c.2347G= (p.Ala783=) c.2509G= (p.Ala837=) | |
| 1 | g.16989746C>G | CA338239676 | ATP13A2 | c.2554G>C (p.Ala852Pro) c.2422G>C (p.Ala808Pro) c.2539G>C (p.Ala847Pro) n.428G>C c.142G>C (p.Ala48Pro) c.2551G>C (p.Ala851Pro) c.2527G>C (p.Ala843Pro) c.2494G>C (p.Ala832Pro) c.2437G>C (p.Ala813Pro) c.2536G>C (p.Ala846Pro) c.2512G>C (p.Ala838Pro) c.2347G>C (p.Ala783Pro) c.2509G>C (p.Ala837Pro) | |
| 1 | g.16989746C>T | CA338239686 | ATP13A2 | c.2554G>A (p.Ala852Thr) c.2422G>A (p.Ala808Thr) c.2539G>A (p.Ala847Thr) n.428G>A c.142G>A (p.Ala48Thr) c.2551G>A (p.Ala851Thr) c.2527G>A (p.Ala843Thr) c.2494G>A (p.Ala832Thr) c.2437G>A (p.Ala813Thr) c.2536G>A (p.Ala846Thr) c.2512G>A (p.Ala838Thr) c.2347G>A (p.Ala783Thr) c.2509G>A (p.Ala837Thr) | |
| 1 | g.16989746_16989748delinsCAA | CA1156021092 | ATP13A2 | c.2552_2554delinsTTG (p.Phe851=) c.2420_2422delinsTTG (p.Phe807=) c.2537_2539delinsTTG (p.Phe846=) n.426_428delinsTTG c.140_142delinsTTG (p.Phe47=) c.2549_2551delinsTTG (p.Phe850=) c.2525_2527delinsTTG (p.Phe842=) c.2492_2494delinsTTG (p.Phe831=) c.2435_2437delinsTTG (p.Phe812=) c.2534_2536delinsTTG (p.Phe845=) c.2510_2512delinsTTG (p.Phe837=) c.2345_2347delinsTTG (p.Phe782=) c.2507_2509delinsTTG (p.Phe836=) | |
| 1 | g.16989747A>C | CA338239695 | ATP13A2 | c.2553T>G (p.Phe851Leu) c.2421T>G (p.Phe807Leu) c.2538T>G (p.Phe846Leu) n.427T>G c.141T>G (p.Phe47Leu) c.2550T>G (p.Phe850Leu) c.2526T>G (p.Phe842Leu) c.2493T>G (p.Phe831Leu) c.2436T>G (p.Phe812Leu) c.2535T>G (p.Phe845Leu) c.2511T>G (p.Phe837Leu) c.2346T>G (p.Phe782Leu) c.2508T>G (p.Phe836Leu) | |
| 1 | g.16989747A>G | CA416094074 | ATP13A2 | c.2553T>C (p.Phe851=) c.2421T>C (p.Phe807=) c.2538T>C (p.Phe846=) n.427T>C c.141T>C (p.Phe47=) c.2550T>C (p.Phe850=) c.2526T>C (p.Phe842=) c.2493T>C (p.Phe831=) c.2436T>C (p.Phe812=) c.2535T>C (p.Phe845=) c.2511T>C (p.Phe837=) c.2346T>C (p.Phe782=) c.2508T>C (p.Phe836=) | |
| 1 | g.16989747A>T | CA338239707 | ATP13A2 | c.2553T>A (p.Phe851Leu) c.2421T>A (p.Phe807Leu) c.2538T>A (p.Phe846Leu) n.427T>A c.141T>A (p.Phe47Leu) c.2550T>A (p.Phe850Leu) c.2526T>A (p.Phe842Leu) c.2493T>A (p.Phe831Leu) c.2436T>A (p.Phe812Leu) c.2535T>A (p.Phe845Leu) c.2511T>A (p.Phe837Leu) c.2346T>A (p.Phe782Leu) c.2508T>A (p.Phe836Leu) | |
| 1 | g.16989747_16989749delinsAAA | CA1148224178 | ATP13A2 | c.2551_2553delinsTTT (p.Phe851=) c.2419_2421delinsTTT (p.Phe807=) c.2536_2538delinsTTT (p.Phe846=) n.425_427delinsTTT c.139_141delinsTTT (p.Phe47=) c.2548_2550delinsTTT (p.Phe850=) c.2524_2526delinsTTT (p.Phe842=) c.2491_2493delinsTTT (p.Phe831=) c.2434_2436delinsTTT (p.Phe812=) c.2533_2535delinsTTT (p.Phe845=) c.2509_2511delinsTTT (p.Phe837=) c.2344_2346delinsTTT (p.Phe782=) c.2506_2508delinsTTT (p.Phe836=) | |
| 1 | g.16989748_16989749del | CA259916 | ATP13A2 | c.2552_2553del (p.Phe851CysfsTer6) c.2420_2421del (p.Phe807CysfsTer6) c.2537_2538del (p.Phe846CysfsTer6) n.426_427del c.140_141del (p.Phe47CysfsTer6) c.2549_2550del (p.Phe850CysfsTer6) c.2525_2526del (p.Phe842CysfsTer6) c.2492_2493del (p.Phe831CysfsTer6) c.2435_2436del (p.Phe812CysfsTer6) c.2534_2535del (p.Phe845CysfsTer6) c.2510_2511del (p.Phe837CysfsTer6) c.2345_2346del (p.Phe782CysfsTer6) c.2507_2508del (p.Phe836CysfsTer6) | ClinVar dbSNP |
| 1 | g.16989748A>C | CA338239714 | ATP13A2 | c.2552T>G (p.Phe851Cys) c.2420T>G (p.Phe807Cys) c.2537T>G (p.Phe846Cys) n.426T>G c.140T>G (p.Phe47Cys) c.2549T>G (p.Phe850Cys) c.2525T>G (p.Phe842Cys) c.2492T>G (p.Phe831Cys) c.2435T>G (p.Phe812Cys) c.2534T>G (p.Phe845Cys) c.2510T>G (p.Phe837Cys) c.2345T>G (p.Phe782Cys) c.2507T>G (p.Phe836Cys) | |
| 1 | g.16989748A>G | CA338239718 | ATP13A2 | c.2552T>C (p.Phe851Ser) c.2420T>C (p.Phe807Ser) c.2537T>C (p.Phe846Ser) n.426T>C c.140T>C (p.Phe47Ser) c.2549T>C (p.Phe850Ser) c.2525T>C (p.Phe842Ser) c.2492T>C (p.Phe831Ser) c.2435T>C (p.Phe812Ser) c.2534T>C (p.Phe845Ser) c.2510T>C (p.Phe837Ser) c.2345T>C (p.Phe782Ser) c.2507T>C (p.Phe836Ser) | |
| 1 | g.16989748A>T | CA338239721 | ATP13A2 | c.2552T>A (p.Phe851Tyr) c.2420T>A (p.Phe807Tyr) c.2537T>A (p.Phe846Tyr) n.426T>A c.140T>A (p.Phe47Tyr) c.2549T>A (p.Phe850Tyr) c.2525T>A (p.Phe842Tyr) c.2492T>A (p.Phe831Tyr) c.2435T>A (p.Phe812Tyr) c.2534T>A (p.Phe845Tyr) c.2510T>A (p.Phe837Tyr) c.2345T>A (p.Phe782Tyr) c.2507T>A (p.Phe836Tyr) | |
| 1 | g.16989749A>C | CA338239723 | ATP13A2 | c.2551T>G (p.Phe851Val) c.2419T>G (p.Phe807Val) c.2536T>G (p.Phe846Val) n.425T>G c.139T>G (p.Phe47Val) c.2548T>G (p.Phe850Val) c.2524T>G (p.Phe842Val) c.2491T>G (p.Phe831Val) c.2434T>G (p.Phe812Val) c.2533T>G (p.Phe845Val) c.2509T>G (p.Phe837Val) c.2344T>G (p.Phe782Val) c.2506T>G (p.Phe836Val) | |
| 1 | g.16989749A>G | CA338239725 | ATP13A2 | c.2551T>C (p.Phe851Leu) c.2419T>C (p.Phe807Leu) c.2536T>C (p.Phe846Leu) n.425T>C c.139T>C (p.Phe47Leu) c.2548T>C (p.Phe850Leu) c.2524T>C (p.Phe842Leu) c.2491T>C (p.Phe831Leu) c.2434T>C (p.Phe812Leu) c.2533T>C (p.Phe845Leu) c.2509T>C (p.Phe837Leu) c.2344T>C (p.Phe782Leu) c.2506T>C (p.Phe836Leu) | |
| 1 | g.16989749A>T | CA338239726 | ATP13A2 | c.2551T>A (p.Phe851Ile) c.2419T>A (p.Phe807Ile) c.2536T>A (p.Phe846Ile) n.425T>A c.139T>A (p.Phe47Ile) c.2548T>A (p.Phe850Ile) c.2524T>A (p.Phe842Ile) c.2491T>A (p.Phe831Ile) c.2434T>A (p.Phe812Ile) c.2533T>A (p.Phe845Ile) c.2509T>A (p.Phe837Ile) c.2344T>A (p.Phe782Ile) c.2506T>A (p.Phe836Ile) | |
| 1 | g.16989750G>A | CA416094079 | ATP13A2 | c.2550C>T (p.Val850=) c.2418C>T (p.Val806=) c.2535C>T (p.Val845=) n.424C>T c.138C>T (p.Val46=) c.2547C>T (p.Val849=) c.2523C>T (p.Val841=) c.2490C>T (p.Val830=) c.2433C>T (p.Val811=) c.2532C>T (p.Val844=) c.2508C>T (p.Val836=) c.2343C>T (p.Val781=) c.2505C>T (p.Val835=) | gnomAD v4 |
| 1 | g.16989750G>C | CA416094081 | ATP13A2 | c.2550C>G (p.Val850=) c.2418C>G (p.Val806=) c.2535C>G (p.Val845=) n.424C>G c.138C>G (p.Val46=) c.2547C>G (p.Val849=) c.2523C>G (p.Val841=) c.2490C>G (p.Val830=) c.2433C>G (p.Val811=) c.2532C>G (p.Val844=) c.2508C>G (p.Val836=) c.2343C>G (p.Val781=) c.2505C>G (p.Val835=) | gnomAD v4 |
| 1 | g.16989750G>T | CA416094080 | ATP13A2 | c.2550C>A (p.Val850=) c.2418C>A (p.Val806=) c.2535C>A (p.Val845=) n.424C>A c.138C>A (p.Val46=) c.2547C>A (p.Val849=) c.2523C>A (p.Val841=) c.2490C>A (p.Val830=) c.2433C>A (p.Val811=) c.2532C>A (p.Val844=) c.2508C>A (p.Val836=) c.2343C>A (p.Val781=) c.2505C>A (p.Val835=) | |
| 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.16989751A>C | CA338239732 | ATP13A2 | c.2549T>G (p.Val850Gly) c.2417T>G (p.Val806Gly) c.2534T>G (p.Val845Gly) n.423T>G c.137T>G (p.Val46Gly) c.2546T>G (p.Val849Gly) c.2522T>G (p.Val841Gly) c.2489T>G (p.Val830Gly) c.2432T>G (p.Val811Gly) c.2531T>G (p.Val844Gly) c.2507T>G (p.Val836Gly) c.2342T>G (p.Val781Gly) c.2504T>G (p.Val835Gly) | |
| 1 | g.16989751A>G | CA338239751 | ATP13A2 | c.2549T>C (p.Val850Ala) c.2417T>C (p.Val806Ala) c.2534T>C (p.Val845Ala) n.423T>C c.137T>C (p.Val46Ala) c.2546T>C (p.Val849Ala) c.2522T>C (p.Val841Ala) c.2489T>C (p.Val830Ala) c.2432T>C (p.Val811Ala) c.2531T>C (p.Val844Ala) c.2507T>C (p.Val836Ala) c.2342T>C (p.Val781Ala) c.2504T>C (p.Val835Ala) | |
| 1 | g.16989751A>T | CA338239729 | ATP13A2 | c.2549T>A (p.Val850Asp) c.2417T>A (p.Val806Asp) c.2534T>A (p.Val845Asp) n.423T>A c.137T>A (p.Val46Asp) c.2546T>A (p.Val849Asp) c.2522T>A (p.Val841Asp) c.2489T>A (p.Val830Asp) c.2432T>A (p.Val811Asp) c.2531T>A (p.Val844Asp) c.2507T>A (p.Val836Asp) c.2342T>A (p.Val781Asp) c.2504T>A (p.Val835Asp) | |
| 1 | g.16989752C>A | CA338239758 | ATP13A2 | c.2548G>T (p.Val850Phe) c.2416G>T (p.Val806Phe) c.2533G>T (p.Val845Phe) n.422G>T c.136G>T (p.Val46Phe) c.2545G>T (p.Val849Phe) c.2521G>T (p.Val841Phe) c.2488G>T (p.Val830Phe) c.2431G>T (p.Val811Phe) c.2530G>T (p.Val844Phe) c.2506G>T (p.Val836Phe) c.2341G>T (p.Val781Phe) c.2503G>T (p.Val835Phe) | |
| 1 | g.16989752C= | CA1147199638 | ATP13A2 | c.2548G= (p.Val850=) c.2416G= (p.Val806=) c.2533G= (p.Val845=) n.422G= c.136G= (p.Val46=) c.2545G= (p.Val849=) c.2521G= (p.Val841=) c.2488G= (p.Val830=) c.2431G= (p.Val811=) c.2530G= (p.Val844=) c.2506G= (p.Val836=) c.2341G= (p.Val781=) c.2503G= (p.Val835=) | |
| 1 | g.16989752C>G | CA18628836 | ATP13A2 | c.2548G>C (p.Val850Leu) c.2416G>C (p.Val806Leu) c.2533G>C (p.Val845Leu) n.422G>C c.136G>C (p.Val46Leu) c.2545G>C (p.Val849Leu) c.2521G>C (p.Val841Leu) c.2488G>C (p.Val830Leu) c.2431G>C (p.Val811Leu) c.2530G>C (p.Val844Leu) c.2506G>C (p.Val836Leu) c.2341G>C (p.Val781Leu) c.2503G>C (p.Val835Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16989752C>T | CA338239759 | ATP13A2 | c.2548G>A (p.Val850Ile) c.2416G>A (p.Val806Ile) c.2533G>A (p.Val845Ile) n.422G>A c.136G>A (p.Val46Ile) c.2545G>A (p.Val849Ile) c.2521G>A (p.Val841Ile) c.2488G>A (p.Val830Ile) c.2431G>A (p.Val811Ile) c.2530G>A (p.Val844Ile) c.2506G>A (p.Val836Ile) c.2341G>A (p.Val781Ile) c.2503G>A (p.Val835Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16989752_16989753insGGGGCCATGCGGGCAAAGGC | CA2643673199 | ATP13A2 | c.2548_2549insCCTTTGCCCGCATGGCCCCG (p.Val850AlafsTer?) c.2416_2417insCCTTTGCCCGCATGGCCCCG (p.Val806AlafsTer?) c.2533_2534insCCTTTGCCCGCATGGCCCCG (p.Val845AlafsTer?) n.422_423insCCTTTGCCCGCATGGCCCCG c.136_137insCCTTTGCCCGCATGGCCCCG (p.Val46AlafsTer?) c.2545_2546insCCTTTGCCCGCATGGCCCCG (p.Val849AlafsTer?) c.2521_2522insCCTTTGCCCGCATGGCCCCG (p.Val841AlafsTer?) c.2488_2489insCCTTTGCCCGCATGGCCCCG (p.Val830AlafsTer?) c.2431_2432insCCTTTGCCCGCATGGCCCCG (p.Val811AlafsTer?) c.2530_2531insCCTTTGCCCGCATGGCCCCG (p.Val844AlafsTer?) c.2506_2507insCCTTTGCCCGCATGGCCCCG (p.Val836AlafsTer?) c.2341_2342insCCTTTGCCCGCATGGCCCCG (p.Val781AlafsTer?) c.2503_2504insCCTTTGCCCGCATGGCCCCG (p.Val835AlafsTer?) | gnomAD v4 |
| 1 | g.16989753A>C | CA416094085 | ATP13A2 | c.2547T>G (p.Thr849=) c.2415T>G (p.Thr805=) c.2532T>G (p.Thr844=) n.421T>G c.135T>G (p.Thr45=) c.2544T>G (p.Thr848=) c.2520T>G (p.Thr840=) c.2487T>G (p.Thr829=) c.2430T>G (p.Thr810=) c.2529T>G (p.Thr843=) c.2505T>G (p.Thr835=) c.2340T>G (p.Thr780=) c.2502T>G (p.Thr834=) | |
| 1 | g.16989753A>G | CA416094086 | ATP13A2 | c.2547T>C (p.Thr849=) c.2415T>C (p.Thr805=) c.2532T>C (p.Thr844=) n.421T>C c.135T>C (p.Thr45=) c.2544T>C (p.Thr848=) c.2520T>C (p.Thr840=) c.2487T>C (p.Thr829=) c.2430T>C (p.Thr810=) c.2529T>C (p.Thr843=) c.2505T>C (p.Thr835=) c.2340T>C (p.Thr780=) c.2502T>C (p.Thr834=) | |
| 1 | g.16989753A>T | CA416094087 | ATP13A2 | c.2547T>A (p.Thr849=) c.2415T>A (p.Thr805=) c.2532T>A (p.Thr844=) n.421T>A c.135T>A (p.Thr45=) c.2544T>A (p.Thr848=) c.2520T>A (p.Thr840=) c.2487T>A (p.Thr829=) c.2430T>A (p.Thr810=) c.2529T>A (p.Thr843=) c.2505T>A (p.Thr835=) c.2340T>A (p.Thr780=) c.2502T>A (p.Thr834=) | |
| 1 | g.16989754G>A | CA338239760 | ATP13A2 | c.2546C>T (p.Thr849Ile) c.2414C>T (p.Thr805Ile) c.2531C>T (p.Thr844Ile) n.420C>T c.134C>T (p.Thr45Ile) c.2543C>T (p.Thr848Ile) c.2519C>T (p.Thr840Ile) c.2486C>T (p.Thr829Ile) c.2429C>T (p.Thr810Ile) c.2528C>T (p.Thr843Ile) c.2504C>T (p.Thr835Ile) c.2339C>T (p.Thr780Ile) c.2501C>T (p.Thr834Ile) | |
| 1 | g.16989754G>C | CA338239762 | ATP13A2 | c.2546C>G (p.Thr849Ser) c.2414C>G (p.Thr805Ser) c.2531C>G (p.Thr844Ser) n.420C>G c.134C>G (p.Thr45Ser) c.2543C>G (p.Thr848Ser) c.2519C>G (p.Thr840Ser) c.2486C>G (p.Thr829Ser) c.2429C>G (p.Thr810Ser) c.2528C>G (p.Thr843Ser) c.2504C>G (p.Thr835Ser) c.2339C>G (p.Thr780Ser) c.2501C>G (p.Thr834Ser) | |
| 1 | g.16989754G>T | CA338239765 | ATP13A2 | c.2546C>A (p.Thr849Asn) c.2414C>A (p.Thr805Asn) c.2531C>A (p.Thr844Asn) n.420C>A c.134C>A (p.Thr45Asn) c.2543C>A (p.Thr848Asn) c.2519C>A (p.Thr840Asn) c.2486C>A (p.Thr829Asn) c.2429C>A (p.Thr810Asn) c.2528C>A (p.Thr843Asn) c.2504C>A (p.Thr835Asn) c.2339C>A (p.Thr780Asn) c.2501C>A (p.Thr834Asn) | |
| 1 | g.16989755T>A | CA338239777 | ATP13A2 | c.2545A>T (p.Thr849Ser) c.2413A>T (p.Thr805Ser) c.2530A>T (p.Thr844Ser) n.419A>T c.133A>T (p.Thr45Ser) c.2542A>T (p.Thr848Ser) c.2518A>T (p.Thr840Ser) c.2485A>T (p.Thr829Ser) c.2428A>T (p.Thr810Ser) c.2527A>T (p.Thr843Ser) c.2503A>T (p.Thr835Ser) c.2338A>T (p.Thr780Ser) c.2500A>T (p.Thr834Ser) |