| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16989680C>A | CA1156020982 | ATP13A2 | c.2609+11G>T (n.2609+11G>T) c.2477+11G>T (n.2477+11G>T) c.2594+11G>T (n.2594+11G>T) n.483+11G>T c.197+11G>T (n.197+11G>T) c.2606+11G>T (n.2606+11G>T) c.2582+11G>T (n.2582+11G>T) c.2549+11G>T (n.2549+11G>T) c.2492+11G>T (n.2492+11G>T) c.2591+11G>T (n.2591+11G>T) c.2567+11G>T (n.2567+11G>T) c.2402+11G>T (n.2402+11G>T) c.2564+11G>T (n.2564+11G>T) | dbSNP |
| 1 | g.16989680C= | CA1156020981 | ATP13A2 | c.2609+11G= (n.2609+11G=) c.2477+11G= (n.2477+11G=) c.2594+11G= (n.2594+11G=) n.483+11G= c.197+11G= (n.197+11G=) c.2606+11G= (n.2606+11G=) c.2582+11G= (n.2582+11G=) c.2549+11G= (n.2549+11G=) c.2492+11G= (n.2492+11G=) c.2591+11G= (n.2591+11G=) c.2567+11G= (n.2567+11G=) c.2402+11G= (n.2402+11G=) c.2564+11G= (n.2564+11G=) | |
| 1 | g.16989680C>T | CA636775 | ATP13A2 | c.2609+11G>A (n.2609+11G>A) c.2477+11G>A (n.2477+11G>A) c.2594+11G>A (n.2594+11G>A) n.483+11G>A c.197+11G>A (n.197+11G>A) c.2606+11G>A (n.2606+11G>A) c.2582+11G>A (n.2582+11G>A) c.2549+11G>A (n.2549+11G>A) c.2492+11G>A (n.2492+11G>A) c.2591+11G>A (n.2591+11G>A) c.2567+11G>A (n.2567+11G>A) c.2402+11G>A (n.2402+11G>A) c.2564+11G>A (n.2564+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989681G>A | CA636776 | ATP13A2 | c.2609+10C>T (n.2609+10C>T) c.2477+10C>T (n.2477+10C>T) c.2594+10C>T (n.2594+10C>T) n.483+10C>T c.197+10C>T (n.197+10C>T) c.2606+10C>T (n.2606+10C>T) c.2582+10C>T (n.2582+10C>T) c.2549+10C>T (n.2549+10C>T) c.2492+10C>T (n.2492+10C>T) c.2591+10C>T (n.2591+10C>T) c.2567+10C>T (n.2567+10C>T) c.2402+10C>T (n.2402+10C>T) c.2564+10C>T (n.2564+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16989681G= | CA1156020985 | ATP13A2 | c.2609+10C= (n.2609+10C=) c.2477+10C= (n.2477+10C=) c.2594+10C= (n.2594+10C=) n.483+10C= c.197+10C= (n.197+10C=) c.2606+10C= (n.2606+10C=) c.2582+10C= (n.2582+10C=) c.2549+10C= (n.2549+10C=) c.2492+10C= (n.2492+10C=) c.2591+10C= (n.2591+10C=) c.2567+10C= (n.2567+10C=) c.2402+10C= (n.2402+10C=) c.2564+10C= (n.2564+10C=) | |
| 1 | g.16989681G>T | CA2563243031 | ATP13A2 | c.2609+10C>A (n.2609+10C>A) c.2477+10C>A (n.2477+10C>A) c.2594+10C>A (n.2594+10C>A) n.483+10C>A c.197+10C>A (n.197+10C>A) c.2606+10C>A (n.2606+10C>A) c.2582+10C>A (n.2582+10C>A) c.2549+10C>A (n.2549+10C>A) c.2492+10C>A (n.2492+10C>A) c.2591+10C>A (n.2591+10C>A) c.2567+10C>A (n.2567+10C>A) c.2402+10C>A (n.2402+10C>A) c.2564+10C>A (n.2564+10C>A) | |
| 1 | g.16989683G>A | CA521028486 | ATP13A2 | c.2609+8C>T (n.2609+8C>T) c.2477+8C>T (n.2477+8C>T) c.2594+8C>T (n.2594+8C>T) n.483+8C>T c.197+8C>T (n.197+8C>T) c.2606+8C>T (n.2606+8C>T) c.2582+8C>T (n.2582+8C>T) c.2549+8C>T (n.2549+8C>T) c.2492+8C>T (n.2492+8C>T) c.2591+8C>T (n.2591+8C>T) c.2567+8C>T (n.2567+8C>T) c.2402+8C>T (n.2402+8C>T) c.2564+8C>T (n.2564+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16989683G= | CA1156020988 | ATP13A2 | c.2609+8C= (n.2609+8C=) c.2477+8C= (n.2477+8C=) c.2594+8C= (n.2594+8C=) n.483+8C= c.197+8C= (n.197+8C=) c.2606+8C= (n.2606+8C=) c.2582+8C= (n.2582+8C=) c.2549+8C= (n.2549+8C=) c.2492+8C= (n.2492+8C=) c.2591+8C= (n.2591+8C=) c.2567+8C= (n.2567+8C=) c.2402+8C= (n.2402+8C=) c.2564+8C= (n.2564+8C=) | |
| 1 | g.16989684C>A | CA2643673092 | ATP13A2 | c.2609+7G>T (n.2609+7G>T) c.2477+7G>T (n.2477+7G>T) c.2594+7G>T (n.2594+7G>T) n.483+7G>T c.197+7G>T (n.197+7G>T) c.2606+7G>T (n.2606+7G>T) c.2582+7G>T (n.2582+7G>T) c.2549+7G>T (n.2549+7G>T) c.2492+7G>T (n.2492+7G>T) c.2591+7G>T (n.2591+7G>T) c.2567+7G>T (n.2567+7G>T) c.2402+7G>T (n.2402+7G>T) c.2564+7G>T (n.2564+7G>T) | gnomAD v4 |
| 1 | g.16989685A>T | CA2643673093 | ATP13A2 | c.2609+6T>A (n.2609+6T>A) c.2477+6T>A (n.2477+6T>A) c.2594+6T>A (n.2594+6T>A) n.483+6T>A c.197+6T>A (n.197+6T>A) c.2606+6T>A (n.2606+6T>A) c.2582+6T>A (n.2582+6T>A) c.2549+6T>A (n.2549+6T>A) c.2492+6T>A (n.2492+6T>A) c.2591+6T>A (n.2591+6T>A) c.2567+6T>A (n.2567+6T>A) c.2402+6T>A (n.2402+6T>A) c.2564+6T>A (n.2564+6T>A) | gnomAD v4 |
| 1 | g.16989686C>T | CA2643673094 | ATP13A2 | c.2609+5G>A (n.2609+5G>A) c.2477+5G>A (n.2477+5G>A) c.2594+5G>A (n.2594+5G>A) n.483+5G>A c.197+5G>A (n.197+5G>A) c.2606+5G>A (n.2606+5G>A) c.2582+5G>A (n.2582+5G>A) c.2549+5G>A (n.2549+5G>A) c.2492+5G>A (n.2492+5G>A) c.2591+5G>A (n.2591+5G>A) c.2567+5G>A (n.2567+5G>A) c.2402+5G>A (n.2402+5G>A) c.2564+5G>A (n.2564+5G>A) | gnomAD v4 |
| 1 | g.16989688C>G | CA2643673097 | ATP13A2 | c.2609+3G>C (n.2609+3G>C) c.2477+3G>C (n.2477+3G>C) c.2594+3G>C (n.2594+3G>C) n.483+3G>C c.197+3G>C (n.197+3G>C) c.2606+3G>C (n.2606+3G>C) c.2582+3G>C (n.2582+3G>C) c.2549+3G>C (n.2549+3G>C) c.2492+3G>C (n.2492+3G>C) c.2591+3G>C (n.2591+3G>C) c.2567+3G>C (n.2567+3G>C) c.2402+3G>C (n.2402+3G>C) c.2564+3G>C (n.2564+3G>C) | gnomAD v4 |
| 1 | g.16989688C>T | CA2643673099 | ATP13A2 | c.2609+3G>A (n.2609+3G>A) c.2477+3G>A (n.2477+3G>A) c.2594+3G>A (n.2594+3G>A) n.483+3G>A c.197+3G>A (n.197+3G>A) c.2606+3G>A (n.2606+3G>A) c.2582+3G>A (n.2582+3G>A) c.2549+3G>A (n.2549+3G>A) c.2492+3G>A (n.2492+3G>A) c.2591+3G>A (n.2591+3G>A) c.2567+3G>A (n.2567+3G>A) c.2402+3G>A (n.2402+3G>A) c.2564+3G>A (n.2564+3G>A) | gnomAD v4 |
| 1 | g.16989689A>C | CA338239111 | ATP13A2 | c.2609+2T>G (n.2609+2T>G) c.2477+2T>G (n.2477+2T>G) c.2594+2T>G (n.2594+2T>G) n.483+2T>G c.197+2T>G (n.197+2T>G) c.2606+2T>G (n.2606+2T>G) c.2582+2T>G (n.2582+2T>G) c.2549+2T>G (n.2549+2T>G) c.2492+2T>G (n.2492+2T>G) c.2591+2T>G (n.2591+2T>G) c.2567+2T>G (n.2567+2T>G) c.2402+2T>G (n.2402+2T>G) c.2564+2T>G (n.2564+2T>G) | |
| 1 | g.16989689A>G | CA338239113 | ATP13A2 | c.2609+2T>C (n.2609+2T>C) c.2477+2T>C (n.2477+2T>C) c.2594+2T>C (n.2594+2T>C) n.483+2T>C c.197+2T>C (n.197+2T>C) c.2606+2T>C (n.2606+2T>C) c.2582+2T>C (n.2582+2T>C) c.2549+2T>C (n.2549+2T>C) c.2492+2T>C (n.2492+2T>C) c.2591+2T>C (n.2591+2T>C) c.2567+2T>C (n.2567+2T>C) c.2402+2T>C (n.2402+2T>C) c.2564+2T>C (n.2564+2T>C) | gnomAD v4 |
| 1 | g.16989689A>T | CA338239114 | ATP13A2 | c.2609+2T>A (n.2609+2T>A) c.2477+2T>A (n.2477+2T>A) c.2594+2T>A (n.2594+2T>A) n.483+2T>A c.197+2T>A (n.197+2T>A) c.2606+2T>A (n.2606+2T>A) c.2582+2T>A (n.2582+2T>A) c.2549+2T>A (n.2549+2T>A) c.2492+2T>A (n.2492+2T>A) c.2591+2T>A (n.2591+2T>A) c.2567+2T>A (n.2567+2T>A) c.2402+2T>A (n.2402+2T>A) c.2564+2T>A (n.2564+2T>A) | |
| 1 | g.16989690C>A | CA338239118 | ATP13A2 | c.2609+1G>T (n.2609+1G>T) c.2477+1G>T (n.2477+1G>T) c.2594+1G>T (n.2594+1G>T) n.483+1G>T c.197+1G>T (n.197+1G>T) c.2606+1G>T (n.2606+1G>T) c.2582+1G>T (n.2582+1G>T) c.2549+1G>T (n.2549+1G>T) c.2492+1G>T (n.2492+1G>T) c.2591+1G>T (n.2591+1G>T) c.2567+1G>T (n.2567+1G>T) c.2402+1G>T (n.2402+1G>T) c.2564+1G>T (n.2564+1G>T) | |
| 1 | g.16989690C>G | CA338239120 | ATP13A2 | c.2609+1G>C (n.2609+1G>C) c.2477+1G>C (n.2477+1G>C) c.2594+1G>C (n.2594+1G>C) n.483+1G>C c.197+1G>C (n.197+1G>C) c.2606+1G>C (n.2606+1G>C) c.2582+1G>C (n.2582+1G>C) c.2549+1G>C (n.2549+1G>C) c.2492+1G>C (n.2492+1G>C) c.2591+1G>C (n.2591+1G>C) c.2567+1G>C (n.2567+1G>C) c.2402+1G>C (n.2402+1G>C) c.2564+1G>C (n.2564+1G>C) | gnomAD v4 |
| 1 | g.16989690C>T | CA338239127 | ATP13A2 | c.2609+1G>A (n.2609+1G>A) c.2477+1G>A (n.2477+1G>A) c.2594+1G>A (n.2594+1G>A) n.483+1G>A c.197+1G>A (n.197+1G>A) c.2606+1G>A (n.2606+1G>A) c.2582+1G>A (n.2582+1G>A) c.2549+1G>A (n.2549+1G>A) c.2492+1G>A (n.2492+1G>A) c.2591+1G>A (n.2591+1G>A) c.2567+1G>A (n.2567+1G>A) c.2402+1G>A (n.2402+1G>A) c.2564+1G>A (n.2564+1G>A) | gnomAD v4 |
| 1 | g.16989691T>A | CA338239134 | ATP13A2 | c.2609A>T (p.Gln870Leu) c.2477A>T (p.Gln826Leu) c.2594A>T (p.Gln865Leu) n.483A>T c.197A>T (p.Gln66Leu) c.2606A>T (p.Gln869Leu) c.2582A>T (p.Gln861Leu) c.2549A>T (p.Gln850Leu) c.2492A>T (p.Gln831Leu) c.2591A>T (p.Gln864Leu) c.2567A>T (p.Gln856Leu) c.2402A>T (p.Gln801Leu) c.2564A>T (p.Gln855Leu) | |
| 1 | g.16989691T>C | CA338239133 | ATP13A2 | c.2609A>G (p.Gln870Arg) c.2477A>G (p.Gln826Arg) c.2594A>G (p.Gln865Arg) n.483A>G c.197A>G (p.Gln66Arg) c.2606A>G (p.Gln869Arg) c.2582A>G (p.Gln861Arg) c.2549A>G (p.Gln850Arg) c.2492A>G (p.Gln831Arg) c.2591A>G (p.Gln864Arg) c.2567A>G (p.Gln856Arg) c.2402A>G (p.Gln801Arg) c.2564A>G (p.Gln855Arg) | |
| 1 | g.16989691T>G | CA338239131 | ATP13A2 | c.2609A>C (p.Gln870Pro) c.2477A>C (p.Gln826Pro) c.2594A>C (p.Gln865Pro) n.483A>C c.197A>C (p.Gln66Pro) c.2606A>C (p.Gln869Pro) c.2582A>C (p.Gln861Pro) c.2549A>C (p.Gln850Pro) c.2492A>C (p.Gln831Pro) c.2591A>C (p.Gln864Pro) c.2567A>C (p.Gln856Pro) c.2402A>C (p.Gln801Pro) c.2564A>C (p.Gln855Pro) | |
| 1 | g.16989692G>A | CA338239135 | ATP13A2 | c.2608C>T (p.Gln870Ter) c.2476C>T (p.Gln826Ter) c.2593C>T (p.Gln865Ter) n.482C>T c.196C>T (p.Gln66Ter) c.2605C>T (p.Gln869Ter) c.2581C>T (p.Gln861Ter) c.2548C>T (p.Gln850Ter) c.2491C>T (p.Gln831Ter) c.2590C>T (p.Gln864Ter) c.2566C>T (p.Gln856Ter) c.2401C>T (p.Gln801Ter) c.2563C>T (p.Gln855Ter) | |
| 1 | g.16989692G>C | CA338239136 | ATP13A2 | c.2608C>G (p.Gln870Glu) c.2476C>G (p.Gln826Glu) c.2593C>G (p.Gln865Glu) n.482C>G c.196C>G (p.Gln66Glu) c.2605C>G (p.Gln869Glu) c.2581C>G (p.Gln861Glu) c.2548C>G (p.Gln850Glu) c.2491C>G (p.Gln831Glu) c.2590C>G (p.Gln864Glu) c.2566C>G (p.Gln856Glu) c.2401C>G (p.Gln801Glu) c.2563C>G (p.Gln855Glu) | |
| 1 | g.16989692G>T | CA338239139 | ATP13A2 | c.2608C>A (p.Gln870Lys) c.2476C>A (p.Gln826Lys) c.2593C>A (p.Gln865Lys) n.482C>A c.196C>A (p.Gln66Lys) c.2605C>A (p.Gln869Lys) c.2581C>A (p.Gln861Lys) c.2548C>A (p.Gln850Lys) c.2491C>A (p.Gln831Lys) c.2590C>A (p.Gln864Lys) c.2566C>A (p.Gln856Lys) c.2401C>A (p.Gln801Lys) c.2563C>A (p.Gln855Lys) | gnomAD v4 |
| 1 | g.16989693A>C | CA416056445 | ATP13A2 | c.2607T>G (p.Leu869=) c.2475T>G (p.Leu825=) c.2592T>G (p.Leu864=) n.481T>G c.195T>G (p.Leu65=) c.2604T>G (p.Leu868=) c.2580T>G (p.Leu860=) c.2547T>G (p.Leu849=) c.2490T>G (p.Leu830=) c.2589T>G (p.Leu863=) c.2565T>G (p.Leu855=) c.2400T>G (p.Leu800=) c.2562T>G (p.Leu854=) | |
| 1 | g.16989693A>G | CA416056448 | ATP13A2 | c.2607T>C (p.Leu869=) c.2475T>C (p.Leu825=) c.2592T>C (p.Leu864=) n.481T>C c.195T>C (p.Leu65=) c.2604T>C (p.Leu868=) c.2580T>C (p.Leu860=) c.2547T>C (p.Leu849=) c.2490T>C (p.Leu830=) c.2589T>C (p.Leu863=) c.2565T>C (p.Leu855=) c.2400T>C (p.Leu800=) c.2562T>C (p.Leu854=) | |
| 1 | g.16989693A>T | CA416056449 | ATP13A2 | c.2607T>A (p.Leu869=) c.2475T>A (p.Leu825=) c.2592T>A (p.Leu864=) n.481T>A c.195T>A (p.Leu65=) c.2604T>A (p.Leu868=) c.2580T>A (p.Leu860=) c.2547T>A (p.Leu849=) c.2490T>A (p.Leu830=) c.2589T>A (p.Leu863=) c.2565T>A (p.Leu855=) c.2400T>A (p.Leu800=) c.2562T>A (p.Leu854=) | |
| 1 | g.16989694A>C | CA338239145 | ATP13A2 | c.2606T>G (p.Leu869Arg) c.2474T>G (p.Leu825Arg) c.2591T>G (p.Leu864Arg) n.480T>G c.194T>G (p.Leu65Arg) c.2603T>G (p.Leu868Arg) c.2579T>G (p.Leu860Arg) c.2546T>G (p.Leu849Arg) c.2489T>G (p.Leu830Arg) c.2588T>G (p.Leu863Arg) c.2564T>G (p.Leu855Arg) c.2399T>G (p.Leu800Arg) c.2561T>G (p.Leu854Arg) | |
| 1 | g.16989694A>G | CA338239148 | ATP13A2 | c.2606T>C (p.Leu869Pro) c.2474T>C (p.Leu825Pro) c.2591T>C (p.Leu864Pro) n.480T>C c.194T>C (p.Leu65Pro) c.2603T>C (p.Leu868Pro) c.2579T>C (p.Leu860Pro) c.2546T>C (p.Leu849Pro) c.2489T>C (p.Leu830Pro) c.2588T>C (p.Leu863Pro) c.2564T>C (p.Leu855Pro) c.2399T>C (p.Leu800Pro) c.2561T>C (p.Leu854Pro) | |
| 1 | g.16989694A>T | CA338239149 | ATP13A2 | c.2606T>A (p.Leu869His) c.2474T>A (p.Leu825His) c.2591T>A (p.Leu864His) n.480T>A c.194T>A (p.Leu65His) c.2603T>A (p.Leu868His) c.2579T>A (p.Leu860His) c.2546T>A (p.Leu849His) c.2489T>A (p.Leu830His) c.2588T>A (p.Leu863His) c.2564T>A (p.Leu855His) c.2399T>A (p.Leu800His) c.2561T>A (p.Leu854His) | |
| 1 | g.16989695G>A | CA338239158 | ATP13A2 | c.2605C>T (p.Leu869Phe) c.2473C>T (p.Leu825Phe) c.2590C>T (p.Leu864Phe) n.479C>T c.193C>T (p.Leu65Phe) c.2602C>T (p.Leu868Phe) c.2578C>T (p.Leu860Phe) c.2545C>T (p.Leu849Phe) c.2488C>T (p.Leu830Phe) c.2587C>T (p.Leu863Phe) c.2563C>T (p.Leu855Phe) c.2398C>T (p.Leu800Phe) c.2560C>T (p.Leu854Phe) | |
| 1 | g.16989695G>C | CA338239153 | ATP13A2 | c.2605C>G (p.Leu869Val) c.2473C>G (p.Leu825Val) c.2590C>G (p.Leu864Val) n.479C>G c.193C>G (p.Leu65Val) c.2602C>G (p.Leu868Val) c.2578C>G (p.Leu860Val) c.2545C>G (p.Leu849Val) c.2488C>G (p.Leu830Val) c.2587C>G (p.Leu863Val) c.2563C>G (p.Leu855Val) c.2398C>G (p.Leu800Val) c.2560C>G (p.Leu854Val) | |
| 1 | g.16989695G>T | CA338239155 | ATP13A2 | c.2605C>A (p.Leu869Ile) c.2473C>A (p.Leu825Ile) c.2590C>A (p.Leu864Ile) n.479C>A c.193C>A (p.Leu65Ile) c.2602C>A (p.Leu868Ile) c.2578C>A (p.Leu860Ile) c.2545C>A (p.Leu849Ile) c.2488C>A (p.Leu830Ile) c.2587C>A (p.Leu863Ile) c.2563C>A (p.Leu855Ile) c.2398C>A (p.Leu800Ile) c.2560C>A (p.Leu854Ile) | |
| 1 | g.16989696C>A | CA338239160 | ATP13A2 | c.2604G>T (p.Lys868Asn) c.2472G>T (p.Lys824Asn) c.2589G>T (p.Lys863Asn) n.478G>T c.192G>T (p.Lys64Asn) c.2601G>T (p.Lys867Asn) c.2577G>T (p.Lys859Asn) c.2544G>T (p.Lys848Asn) c.2487G>T (p.Lys829Asn) c.2586G>T (p.Lys862Asn) c.2562G>T (p.Lys854Asn) c.2397G>T (p.Lys799Asn) c.2559G>T (p.Lys853Asn) | |
| 1 | g.16989696C= | CA1156020991 | ATP13A2 | c.2604G= (p.Lys868=) c.2472G= (p.Lys824=) c.2589G= (p.Lys863=) n.478G= c.192G= (p.Lys64=) c.2601G= (p.Lys867=) c.2577G= (p.Lys859=) c.2544G= (p.Lys848=) c.2487G= (p.Lys829=) c.2586G= (p.Lys862=) c.2562G= (p.Lys854=) c.2397G= (p.Lys799=) c.2559G= (p.Lys853=) | |
| 1 | g.16989696C>G | CA338239164 | ATP13A2 | c.2604G>C (p.Lys868Asn) c.2472G>C (p.Lys824Asn) c.2589G>C (p.Lys863Asn) n.478G>C c.192G>C (p.Lys64Asn) c.2601G>C (p.Lys867Asn) c.2577G>C (p.Lys859Asn) c.2544G>C (p.Lys848Asn) c.2487G>C (p.Lys829Asn) c.2586G>C (p.Lys862Asn) c.2562G>C (p.Lys854Asn) c.2397G>C (p.Lys799Asn) c.2559G>C (p.Lys853Asn) | |
| 1 | g.16989696C>T | CA416056467 | ATP13A2 | c.2604G>A (p.Lys868=) c.2472G>A (p.Lys824=) c.2589G>A (p.Lys863=) n.478G>A c.192G>A (p.Lys64=) c.2601G>A (p.Lys867=) c.2577G>A (p.Lys859=) c.2544G>A (p.Lys848=) c.2487G>A (p.Lys829=) c.2586G>A (p.Lys862=) c.2562G>A (p.Lys854=) c.2397G>A (p.Lys799=) c.2559G>A (p.Lys853=) | dbSNP gnomAD v3 gnomAD v4 |
| 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 |