Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16989721G>ACA338239352ATP13A2c.2579C>T (p.Thr860Ile)
c.2447C>T (p.Thr816Ile)
c.2564C>T (p.Thr855Ile)
n.453C>T
c.167C>T (p.Thr56Ile)
c.2576C>T (p.Thr859Ile)
c.2552C>T (p.Thr851Ile)
c.2519C>T (p.Thr840Ile)
c.2462C>T (p.Thr821Ile)
c.2561C>T (p.Thr854Ile)
c.2537C>T (p.Thr846Ile)
c.2372C>T (p.Thr791Ile)
c.2534C>T (p.Thr845Ile)
1g.16989721G>CCA338239367ATP13A2c.2579C>G (p.Thr860Arg)
c.2447C>G (p.Thr816Arg)
c.2564C>G (p.Thr855Arg)
n.453C>G
c.167C>G (p.Thr56Arg)
c.2576C>G (p.Thr859Arg)
c.2552C>G (p.Thr851Arg)
c.2519C>G (p.Thr840Arg)
c.2462C>G (p.Thr821Arg)
c.2561C>G (p.Thr854Arg)
c.2537C>G (p.Thr846Arg)
c.2372C>G (p.Thr791Arg)
c.2534C>G (p.Thr845Arg)
1g.16989721G>TCA338239369ATP13A2c.2579C>A (p.Thr860Lys)
c.2447C>A (p.Thr816Lys)
c.2564C>A (p.Thr855Lys)
n.453C>A
c.167C>A (p.Thr56Lys)
c.2576C>A (p.Thr859Lys)
c.2552C>A (p.Thr851Lys)
c.2519C>A (p.Thr840Lys)
c.2462C>A (p.Thr821Lys)
c.2561C>A (p.Thr854Lys)
c.2537C>A (p.Thr846Lys)
c.2372C>A (p.Thr791Lys)
c.2534C>A (p.Thr845Lys)
1g.16989722T>ACA338239372ATP13A2c.2578A>T (p.Thr860Ser)
c.2446A>T (p.Thr816Ser)
c.2563A>T (p.Thr855Ser)
n.452A>T
c.166A>T (p.Thr56Ser)
c.2575A>T (p.Thr859Ser)
c.2551A>T (p.Thr851Ser)
c.2518A>T (p.Thr840Ser)
c.2461A>T (p.Thr821Ser)
c.2560A>T (p.Thr854Ser)
c.2536A>T (p.Thr846Ser)
c.2371A>T (p.Thr791Ser)
c.2533A>T (p.Thr845Ser)
1g.16989722T>CCA338239384ATP13A2c.2578A>G (p.Thr860Ala)
c.2446A>G (p.Thr816Ala)
c.2563A>G (p.Thr855Ala)
n.452A>G
c.166A>G (p.Thr56Ala)
c.2575A>G (p.Thr859Ala)
c.2551A>G (p.Thr851Ala)
c.2518A>G (p.Thr840Ala)
c.2461A>G (p.Thr821Ala)
c.2560A>G (p.Thr854Ala)
c.2536A>G (p.Thr846Ala)
c.2371A>G (p.Thr791Ala)
c.2533A>G (p.Thr845Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.16989722T>GCA338239386ATP13A2c.2578A>C (p.Thr860Pro)
c.2446A>C (p.Thr816Pro)
c.2563A>C (p.Thr855Pro)
n.452A>C
c.166A>C (p.Thr56Pro)
c.2575A>C (p.Thr859Pro)
c.2551A>C (p.Thr851Pro)
c.2518A>C (p.Thr840Pro)
c.2461A>C (p.Thr821Pro)
c.2560A>C (p.Thr854Pro)
c.2536A>C (p.Thr846Pro)
c.2371A>C (p.Thr791Pro)
c.2533A>C (p.Thr845Pro)
1g.16989722T=CA1156021032ATP13A2c.2578A= (p.Thr860=)
c.2446A= (p.Thr816=)
c.2563A= (p.Thr855=)
n.452A=
c.166A= (p.Thr56=)
c.2575A= (p.Thr859=)
c.2551A= (p.Thr851=)
c.2518A= (p.Thr840=)
c.2461A= (p.Thr821=)
c.2560A= (p.Thr854=)
c.2536A= (p.Thr846=)
c.2371A= (p.Thr791=)
c.2533A= (p.Thr845=)
1g.16989723C>ACA338239391ATP13A2c.2577G>T (p.Lys859Asn)
c.2445G>T (p.Lys815Asn)
c.2562G>T (p.Lys854Asn)
n.451G>T
c.165G>T (p.Lys55Asn)
c.2574G>T (p.Lys858Asn)
c.2550G>T (p.Lys850Asn)
c.2517G>T (p.Lys839Asn)
c.2460G>T (p.Lys820Asn)
c.2559G>T (p.Lys853Asn)
c.2535G>T (p.Lys845Asn)
c.2370G>T (p.Lys790Asn)
c.2532G>T (p.Lys844Asn)
1g.16989723C>GCA338239400ATP13A2c.2577G>C (p.Lys859Asn)
c.2445G>C (p.Lys815Asn)
c.2562G>C (p.Lys854Asn)
n.451G>C
c.165G>C (p.Lys55Asn)
c.2574G>C (p.Lys858Asn)
c.2550G>C (p.Lys850Asn)
c.2517G>C (p.Lys839Asn)
c.2460G>C (p.Lys820Asn)
c.2559G>C (p.Lys853Asn)
c.2535G>C (p.Lys845Asn)
c.2370G>C (p.Lys790Asn)
c.2532G>C (p.Lys844Asn)
1g.16989723C>TCA416094039ATP13A2c.2577G>A (p.Lys859=)
c.2445G>A (p.Lys815=)
c.2562G>A (p.Lys854=)
n.451G>A
c.165G>A (p.Lys55=)
c.2574G>A (p.Lys858=)
c.2550G>A (p.Lys850=)
c.2517G>A (p.Lys839=)
c.2460G>A (p.Lys820=)
c.2559G>A (p.Lys853=)
c.2535G>A (p.Lys845=)
c.2370G>A (p.Lys790=)
c.2532G>A (p.Lys844=)
 gnomAD v4
1g.16989724T>ACA338239426ATP13A2c.2576A>T (p.Lys859Met)
c.2444A>T (p.Lys815Met)
c.2561A>T (p.Lys854Met)
n.450A>T
c.164A>T (p.Lys55Met)
c.2573A>T (p.Lys858Met)
c.2549A>T (p.Lys850Met)
c.2516A>T (p.Lys839Met)
c.2459A>T (p.Lys820Met)
c.2558A>T (p.Lys853Met)
c.2534A>T (p.Lys845Met)
c.2369A>T (p.Lys790Met)
c.2531A>T (p.Lys844Met)
1g.16989724T>CCA338239409ATP13A2c.2576A>G (p.Lys859Arg)
c.2444A>G (p.Lys815Arg)
c.2561A>G (p.Lys854Arg)
n.450A>G
c.164A>G (p.Lys55Arg)
c.2573A>G (p.Lys858Arg)
c.2549A>G (p.Lys850Arg)
c.2516A>G (p.Lys839Arg)
c.2459A>G (p.Lys820Arg)
c.2558A>G (p.Lys853Arg)
c.2534A>G (p.Lys845Arg)
c.2369A>G (p.Lys790Arg)
c.2531A>G (p.Lys844Arg)
1g.16989724T>GCA338239407ATP13A2c.2576A>C (p.Lys859Thr)
c.2444A>C (p.Lys815Thr)
c.2561A>C (p.Lys854Thr)
n.450A>C
c.164A>C (p.Lys55Thr)
c.2573A>C (p.Lys858Thr)
c.2549A>C (p.Lys850Thr)
c.2516A>C (p.Lys839Thr)
c.2459A>C (p.Lys820Thr)
c.2558A>C (p.Lys853Thr)
c.2534A>C (p.Lys845Thr)
c.2369A>C (p.Lys790Thr)
c.2531A>C (p.Lys844Thr)
1g.16989725T>ACA338239430ATP13A2c.2575A>T (p.Lys859Ter)
c.2443A>T (p.Lys815Ter)
c.2560A>T (p.Lys854Ter)
n.449A>T
c.163A>T (p.Lys55Ter)
c.2572A>T (p.Lys858Ter)
c.2548A>T (p.Lys850Ter)
c.2515A>T (p.Lys839Ter)
c.2458A>T (p.Lys820Ter)
c.2557A>T (p.Lys853Ter)
c.2533A>T (p.Lys845Ter)
c.2368A>T (p.Lys790Ter)
c.2530A>T (p.Lys844Ter)
1g.16989725T>CCA338239440ATP13A2c.2575A>G (p.Lys859Glu)
c.2443A>G (p.Lys815Glu)
c.2560A>G (p.Lys854Glu)
n.449A>G
c.163A>G (p.Lys55Glu)
c.2572A>G (p.Lys858Glu)
c.2548A>G (p.Lys850Glu)
c.2515A>G (p.Lys839Glu)
c.2458A>G (p.Lys820Glu)
c.2557A>G (p.Lys853Glu)
c.2533A>G (p.Lys845Glu)
c.2368A>G (p.Lys790Glu)
c.2530A>G (p.Lys844Glu)
1g.16989725T>GCA338239443ATP13A2c.2575A>C (p.Lys859Gln)
c.2443A>C (p.Lys815Gln)
c.2560A>C (p.Lys854Gln)
n.449A>C
c.163A>C (p.Lys55Gln)
c.2572A>C (p.Lys858Gln)
c.2548A>C (p.Lys850Gln)
c.2515A>C (p.Lys839Gln)
c.2458A>C (p.Lys820Gln)
c.2557A>C (p.Lys853Gln)
c.2533A>C (p.Lys845Gln)
c.2368A>C (p.Lys790Gln)
c.2530A>C (p.Lys844Gln)
1g.16989726C>ACA338239452ATP13A2c.2574G>T (p.Gln858His)
c.2442G>T (p.Gln814His)
c.2559G>T (p.Gln853His)
n.448G>T
c.162G>T (p.Gln54His)
c.2571G>T (p.Gln857His)
c.2547G>T (p.Gln849His)
c.2514G>T (p.Gln838His)
c.2457G>T (p.Gln819His)
c.2556G>T (p.Gln852His)
c.2532G>T (p.Gln844His)
c.2367G>T (p.Gln789His)
c.2529G>T (p.Gln843His)
1g.16989726C=CA1156021035ATP13A2c.2574G= (p.Gln858=)
c.2442G= (p.Gln814=)
c.2559G= (p.Gln853=)
n.448G=
c.162G= (p.Gln54=)
c.2571G= (p.Gln857=)
c.2547G= (p.Gln849=)
c.2514G= (p.Gln838=)
c.2457G= (p.Gln819=)
c.2556G= (p.Gln852=)
c.2532G= (p.Gln844=)
c.2367G= (p.Gln789=)
c.2529G= (p.Gln843=)
1g.16989726C>GCA338239466ATP13A2c.2574G>C (p.Gln858His)
c.2442G>C (p.Gln814His)
c.2559G>C (p.Gln853His)
n.448G>C
c.162G>C (p.Gln54His)
c.2571G>C (p.Gln857His)
c.2547G>C (p.Gln849His)
c.2514G>C (p.Gln838His)
c.2457G>C (p.Gln819His)
c.2556G>C (p.Gln852His)
c.2532G>C (p.Gln844His)
c.2367G>C (p.Gln789His)
c.2529G>C (p.Gln843His)
1g.16989726C>TCA416094043ATP13A2c.2574G>A (p.Gln858=)
c.2442G>A (p.Gln814=)
c.2559G>A (p.Gln853=)
n.448G>A
c.162G>A (p.Gln54=)
c.2571G>A (p.Gln857=)
c.2547G>A (p.Gln849=)
c.2514G>A (p.Gln838=)
c.2457G>A (p.Gln819=)
c.2556G>A (p.Gln852=)
c.2532G>A (p.Gln844=)
c.2367G>A (p.Gln789=)
c.2529G>A (p.Gln843=)
 dbSNP gnomAD v2
1g.16989727T>ACA338239470ATP13A2c.2573A>T (p.Gln858Leu)
c.2441A>T (p.Gln814Leu)
c.2558A>T (p.Gln853Leu)
n.447A>T
c.161A>T (p.Gln54Leu)
c.2570A>T (p.Gln857Leu)
c.2546A>T (p.Gln849Leu)
c.2513A>T (p.Gln838Leu)
c.2456A>T (p.Gln819Leu)
c.2555A>T (p.Gln852Leu)
c.2531A>T (p.Gln844Leu)
c.2366A>T (p.Gln789Leu)
c.2528A>T (p.Gln843Leu)
1g.16989727T>CCA338239474ATP13A2c.2573A>G (p.Gln858Arg)
c.2441A>G (p.Gln814Arg)
c.2558A>G (p.Gln853Arg)
n.447A>G
c.161A>G (p.Gln54Arg)
c.2570A>G (p.Gln857Arg)
c.2546A>G (p.Gln849Arg)
c.2513A>G (p.Gln838Arg)
c.2456A>G (p.Gln819Arg)
c.2555A>G (p.Gln852Arg)
c.2531A>G (p.Gln844Arg)
c.2366A>G (p.Gln789Arg)
c.2528A>G (p.Gln843Arg)
1g.16989727T>GCA338239485ATP13A2c.2573A>C (p.Gln858Pro)
c.2441A>C (p.Gln814Pro)
c.2558A>C (p.Gln853Pro)
n.447A>C
c.161A>C (p.Gln54Pro)
c.2570A>C (p.Gln857Pro)
c.2546A>C (p.Gln849Pro)
c.2513A>C (p.Gln838Pro)
c.2456A>C (p.Gln819Pro)
c.2555A>C (p.Gln852Pro)
c.2531A>C (p.Gln844Pro)
c.2366A>C (p.Gln789Pro)
c.2528A>C (p.Gln843Pro)
1g.16989728G>ACA338239486ATP13A2c.2572C>T (p.Gln858Ter)
c.2440C>T (p.Gln814Ter)
c.2557C>T (p.Gln853Ter)
n.446C>T
c.160C>T (p.Gln54Ter)
c.2569C>T (p.Gln857Ter)
c.2545C>T (p.Gln849Ter)
c.2512C>T (p.Gln838Ter)
c.2455C>T (p.Gln819Ter)
c.2554C>T (p.Gln852Ter)
c.2530C>T (p.Gln844Ter)
c.2365C>T (p.Gln789Ter)
c.2527C>T (p.Gln843Ter)
 dbSNP gnomAD v2
1g.16989728G>CCA338239503ATP13A2c.2572C>G (p.Gln858Glu)
c.2440C>G (p.Gln814Glu)
c.2557C>G (p.Gln853Glu)
n.446C>G
c.160C>G (p.Gln54Glu)
c.2569C>G (p.Gln857Glu)
c.2545C>G (p.Gln849Glu)
c.2512C>G (p.Gln838Glu)
c.2455C>G (p.Gln819Glu)
c.2554C>G (p.Gln852Glu)
c.2530C>G (p.Gln844Glu)
c.2365C>G (p.Gln789Glu)
c.2527C>G (p.Gln843Glu)
1g.16989728G=CA1156021039ATP13A2c.2572C= (p.Gln858=)
c.2440C= (p.Gln814=)
c.2557C= (p.Gln853=)
n.446C=
c.160C= (p.Gln54=)
c.2569C= (p.Gln857=)
c.2545C= (p.Gln849=)
c.2512C= (p.Gln838=)
c.2455C= (p.Gln819=)
c.2554C= (p.Gln852=)
c.2530C= (p.Gln844=)
c.2365C= (p.Gln789=)
c.2527C= (p.Gln843=)
1g.16989728G>TCA338239510ATP13A2c.2572C>A (p.Gln858Lys)
c.2440C>A (p.Gln814Lys)
c.2557C>A (p.Gln853Lys)
n.446C>A
c.160C>A (p.Gln54Lys)
c.2569C>A (p.Gln857Lys)
c.2545C>A (p.Gln849Lys)
c.2512C>A (p.Gln838Lys)
c.2455C>A (p.Gln819Lys)
c.2554C>A (p.Gln852Lys)
c.2530C>A (p.Gln844Lys)
c.2365C>A (p.Gln789Lys)
c.2527C>A (p.Gln843Lys)
1g.16989729C>ACA338239513ATP13A2c.2571G>T (p.Glu857Asp)
c.2439G>T (p.Glu813Asp)
c.2556G>T (p.Glu852Asp)
n.445G>T
c.159G>T (p.Glu53Asp)
c.2568G>T (p.Glu856Asp)
c.2544G>T (p.Glu848Asp)
c.2511G>T (p.Glu837Asp)
c.2454G>T (p.Glu818Asp)
c.2553G>T (p.Glu851Asp)
c.2529G>T (p.Glu843Asp)
c.2364G>T (p.Glu788Asp)
c.2526G>T (p.Glu842Asp)
1g.16989729C>GCA338239530ATP13A2c.2571G>C (p.Glu857Asp)
c.2439G>C (p.Glu813Asp)
c.2556G>C (p.Glu852Asp)
n.445G>C
c.159G>C (p.Glu53Asp)
c.2568G>C (p.Glu856Asp)
c.2544G>C (p.Glu848Asp)
c.2511G>C (p.Glu837Asp)
c.2454G>C (p.Glu818Asp)
c.2553G>C (p.Glu851Asp)
c.2529G>C (p.Glu843Asp)
c.2364G>C (p.Glu788Asp)
c.2526G>C (p.Glu842Asp)
1g.16989729C>TCA416094044ATP13A2c.2571G>A (p.Glu857=)
c.2439G>A (p.Glu813=)
c.2556G>A (p.Glu852=)
n.445G>A
c.159G>A (p.Glu53=)
c.2568G>A (p.Glu856=)
c.2544G>A (p.Glu848=)
c.2511G>A (p.Glu837=)
c.2454G>A (p.Glu818=)
c.2553G>A (p.Glu851=)
c.2529G>A (p.Glu843=)
c.2364G>A (p.Glu788=)
c.2526G>A (p.Glu842=)
 gnomAD v4
1g.16989730T>ACA338239548ATP13A2c.2570A>T (p.Glu857Val)
c.2438A>T (p.Glu813Val)
c.2555A>T (p.Glu852Val)
n.444A>T
c.158A>T (p.Glu53Val)
c.2567A>T (p.Glu856Val)
c.2543A>T (p.Glu848Val)
c.2510A>T (p.Glu837Val)
c.2453A>T (p.Glu818Val)
c.2552A>T (p.Glu851Val)
c.2528A>T (p.Glu843Val)
c.2363A>T (p.Glu788Val)
c.2525A>T (p.Glu842Val)
1g.16989730T>CCA338239542ATP13A2c.2570A>G (p.Glu857Gly)
c.2438A>G (p.Glu813Gly)
c.2555A>G (p.Glu852Gly)
n.444A>G
c.158A>G (p.Glu53Gly)
c.2567A>G (p.Glu856Gly)
c.2543A>G (p.Glu848Gly)
c.2510A>G (p.Glu837Gly)
c.2453A>G (p.Glu818Gly)
c.2552A>G (p.Glu851Gly)
c.2528A>G (p.Glu843Gly)
c.2363A>G (p.Glu788Gly)
c.2525A>G (p.Glu842Gly)
1g.16989730T>GCA338239535ATP13A2c.2570A>C (p.Glu857Ala)
c.2438A>C (p.Glu813Ala)
c.2555A>C (p.Glu852Ala)
n.444A>C
c.158A>C (p.Glu53Ala)
c.2567A>C (p.Glu856Ala)
c.2543A>C (p.Glu848Ala)
c.2510A>C (p.Glu837Ala)
c.2453A>C (p.Glu818Ala)
c.2552A>C (p.Glu851Ala)
c.2528A>C (p.Glu843Ala)
c.2363A>C (p.Glu788Ala)
c.2525A>C (p.Glu842Ala)
1g.16989731C>ACA338239573ATP13A2c.2569G>T (p.Glu857Ter)
c.2437G>T (p.Glu813Ter)
c.2554G>T (p.Glu852Ter)
n.443G>T
c.157G>T (p.Glu53Ter)
c.2566G>T (p.Glu856Ter)
c.2542G>T (p.Glu848Ter)
c.2509G>T (p.Glu837Ter)
c.2452G>T (p.Glu818Ter)
c.2551G>T (p.Glu851Ter)
c.2527G>T (p.Glu843Ter)
c.2362G>T (p.Glu788Ter)
c.2524G>T (p.Glu842Ter)
1g.16989731C=CA1156021042ATP13A2c.2569G= (p.Glu857=)
c.2437G= (p.Glu813=)
c.2554G= (p.Glu852=)
n.443G=
c.157G= (p.Glu53=)
c.2566G= (p.Glu856=)
c.2542G= (p.Glu848=)
c.2509G= (p.Glu837=)
c.2452G= (p.Glu818=)
c.2551G= (p.Glu851=)
c.2527G= (p.Glu843=)
c.2362G= (p.Glu788=)
c.2524G= (p.Glu842=)
1g.16989731C>GCA338239552ATP13A2c.2569G>C (p.Glu857Gln)
c.2437G>C (p.Glu813Gln)
c.2554G>C (p.Glu852Gln)
n.443G>C
c.157G>C (p.Glu53Gln)
c.2566G>C (p.Glu856Gln)
c.2542G>C (p.Glu848Gln)
c.2509G>C (p.Glu837Gln)
c.2452G>C (p.Glu818Gln)
c.2551G>C (p.Glu851Gln)
c.2527G>C (p.Glu843Gln)
c.2362G>C (p.Glu788Gln)
c.2524G>C (p.Glu842Gln)
 gnomAD v4
1g.16989731C>TCA338239576ATP13A2c.2569G>A (p.Glu857Lys)
c.2437G>A (p.Glu813Lys)
c.2554G>A (p.Glu852Lys)
n.443G>A
c.157G>A (p.Glu53Lys)
c.2566G>A (p.Glu856Lys)
c.2542G>A (p.Glu848Lys)
c.2509G>A (p.Glu837Lys)
c.2452G>A (p.Glu818Lys)
c.2551G>A (p.Glu851Lys)
c.2527G>A (p.Glu843Lys)
c.2362G>A (p.Glu788Lys)
c.2524G>A (p.Glu842Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.16989732A>CCA416094049ATP13A2c.2568T>G (p.Pro856=)
c.2436T>G (p.Pro812=)
c.2553T>G (p.Pro851=)
n.442T>G
c.156T>G (p.Pro52=)
c.2565T>G (p.Pro855=)
c.2541T>G (p.Pro847=)
c.2508T>G (p.Pro836=)
c.2451T>G (p.Pro817=)
c.2550T>G (p.Pro850=)
c.2526T>G (p.Pro842=)
c.2361T>G (p.Pro787=)
c.2523T>G (p.Pro841=)
1g.16989732A>GCA416094047ATP13A2c.2568T>C (p.Pro856=)
c.2436T>C (p.Pro812=)
c.2553T>C (p.Pro851=)
n.442T>C
c.156T>C (p.Pro52=)
c.2565T>C (p.Pro855=)
c.2541T>C (p.Pro847=)
c.2508T>C (p.Pro836=)
c.2451T>C (p.Pro817=)
c.2550T>C (p.Pro850=)
c.2526T>C (p.Pro842=)
c.2361T>C (p.Pro787=)
c.2523T>C (p.Pro841=)
1g.16989732A>TCA416094048ATP13A2c.2568T>A (p.Pro856=)
c.2436T>A (p.Pro812=)
c.2553T>A (p.Pro851=)
n.442T>A
c.156T>A (p.Pro52=)
c.2565T>A (p.Pro855=)
c.2541T>A (p.Pro847=)
c.2508T>A (p.Pro836=)
c.2451T>A (p.Pro817=)
c.2550T>A (p.Pro850=)
c.2526T>A (p.Pro842=)
c.2361T>A (p.Pro787=)
c.2523T>A (p.Pro841=)
1g.16989732_16989733delCA2573105839ATP13A2c.2567_2568del (p.Pro856ArgfsTer26)
c.2435_2436del (p.Pro812ArgfsTer26)
c.2552_2553del (p.Pro851ArgfsTer26)
n.441_442del
c.155_156del (p.Pro52ArgfsTer26)
c.2564_2565del (p.Pro855ArgfsTer26)
c.2540_2541del (p.Pro847ArgfsTer26)
c.2507_2508del (p.Pro836ArgfsTer26)
c.2450_2451del (p.Pro817ArgfsTer26)
c.2549_2550del (p.Pro850ArgfsTer26)
c.2525_2526del (p.Pro842ArgfsTer26)
c.2360_2361del (p.Pro787ArgfsTer26)
c.2522_2523del (p.Pro841ArgfsTer26)
1g.16989733G>ACA338239581ATP13A2c.2567C>T (p.Pro856Leu)
c.2435C>T (p.Pro812Leu)
c.2552C>T (p.Pro851Leu)
n.441C>T
c.155C>T (p.Pro52Leu)
c.2564C>T (p.Pro855Leu)
c.2540C>T (p.Pro847Leu)
c.2507C>T (p.Pro836Leu)
c.2450C>T (p.Pro817Leu)
c.2549C>T (p.Pro850Leu)
c.2525C>T (p.Pro842Leu)
c.2360C>T (p.Pro787Leu)
c.2522C>T (p.Pro841Leu)
1g.16989733G>CCA338239587ATP13A2c.2567C>G (p.Pro856Arg)
c.2435C>G (p.Pro812Arg)
c.2552C>G (p.Pro851Arg)
n.441C>G
c.155C>G (p.Pro52Arg)
c.2564C>G (p.Pro855Arg)
c.2540C>G (p.Pro847Arg)
c.2507C>G (p.Pro836Arg)
c.2450C>G (p.Pro817Arg)
c.2549C>G (p.Pro850Arg)
c.2525C>G (p.Pro842Arg)
c.2360C>G (p.Pro787Arg)
c.2522C>G (p.Pro841Arg)
1g.16989733G>TCA338239584ATP13A2c.2567C>A (p.Pro856His)
c.2435C>A (p.Pro812His)
c.2552C>A (p.Pro851His)
n.441C>A
c.155C>A (p.Pro52His)
c.2564C>A (p.Pro855His)
c.2540C>A (p.Pro847His)
c.2507C>A (p.Pro836His)
c.2450C>A (p.Pro817His)
c.2549C>A (p.Pro850His)
c.2525C>A (p.Pro842His)
c.2360C>A (p.Pro787His)
c.2522C>A (p.Pro841His)
1g.16989734G>ACA338239591ATP13A2c.2566C>T (p.Pro856Ser)
c.2434C>T (p.Pro812Ser)
c.2551C>T (p.Pro851Ser)
n.440C>T
c.154C>T (p.Pro52Ser)
c.2563C>T (p.Pro855Ser)
c.2539C>T (p.Pro847Ser)
c.2506C>T (p.Pro836Ser)
c.2449C>T (p.Pro817Ser)
c.2548C>T (p.Pro850Ser)
c.2524C>T (p.Pro842Ser)
c.2359C>T (p.Pro787Ser)
c.2521C>T (p.Pro841Ser)
1g.16989734G>CCA338239601ATP13A2c.2566C>G (p.Pro856Ala)
c.2434C>G (p.Pro812Ala)
c.2551C>G (p.Pro851Ala)
n.440C>G
c.154C>G (p.Pro52Ala)
c.2563C>G (p.Pro855Ala)
c.2539C>G (p.Pro847Ala)
c.2506C>G (p.Pro836Ala)
c.2449C>G (p.Pro817Ala)
c.2548C>G (p.Pro850Ala)
c.2524C>G (p.Pro842Ala)
c.2359C>G (p.Pro787Ala)
c.2521C>G (p.Pro841Ala)
1g.16989734G>TCA338239604ATP13A2c.2566C>A (p.Pro856Thr)
c.2434C>A (p.Pro812Thr)
c.2551C>A (p.Pro851Thr)
n.440C>A
c.154C>A (p.Pro52Thr)
c.2563C>A (p.Pro855Thr)
c.2539C>A (p.Pro847Thr)
c.2506C>A (p.Pro836Thr)
c.2449C>A (p.Pro817Thr)
c.2548C>A (p.Pro850Thr)
c.2524C>A (p.Pro842Thr)
c.2359C>A (p.Pro787Thr)
c.2521C>A (p.Pro841Thr)
1g.16989735G>ACA416094055ATP13A2c.2565C>T (p.Ala855=)
c.2433C>T (p.Ala811=)
c.2550C>T (p.Ala850=)
n.439C>T
c.153C>T (p.Ala51=)
c.2562C>T (p.Ala854=)
c.2538C>T (p.Ala846=)
c.2505C>T (p.Ala835=)
c.2448C>T (p.Ala816=)
c.2547C>T (p.Ala849=)
c.2523C>T (p.Ala841=)
c.2358C>T (p.Ala786=)
c.2520C>T (p.Ala840=)
 gnomAD v4
1g.16989735G>CCA416094056ATP13A2c.2565C>G (p.Ala855=)
c.2433C>G (p.Ala811=)
c.2550C>G (p.Ala850=)
n.439C>G
c.153C>G (p.Ala51=)
c.2562C>G (p.Ala854=)
c.2538C>G (p.Ala846=)
c.2505C>G (p.Ala835=)
c.2448C>G (p.Ala816=)
c.2547C>G (p.Ala849=)
c.2523C>G (p.Ala841=)
c.2358C>G (p.Ala786=)
c.2520C>G (p.Ala840=)
1g.16989735G>TCA416094053ATP13A2c.2565C>A (p.Ala855=)
c.2433C>A (p.Ala811=)
c.2550C>A (p.Ala850=)
n.439C>A
c.153C>A (p.Ala51=)
c.2562C>A (p.Ala854=)
c.2538C>A (p.Ala846=)
c.2505C>A (p.Ala835=)
c.2448C>A (p.Ala816=)
c.2547C>A (p.Ala849=)
c.2523C>A (p.Ala841=)
c.2358C>A (p.Ala786=)
c.2520C>A (p.Ala840=)
1g.16989736G>ACA338239609ATP13A2c.2564C>T (p.Ala855Val)
c.2432C>T (p.Ala811Val)
c.2549C>T (p.Ala850Val)
n.438C>T
c.152C>T (p.Ala51Val)
c.2561C>T (p.Ala854Val)
c.2537C>T (p.Ala846Val)
c.2504C>T (p.Ala835Val)
c.2447C>T (p.Ala816Val)
c.2546C>T (p.Ala849Val)
c.2522C>T (p.Ala841Val)
c.2357C>T (p.Ala786Val)
c.2519C>T (p.Ala840Val)
 dbSNP gnomAD v2 gnomAD v4
1g.16989736G>CCA18628799ATP13A2c.2564C>G (p.Ala855Gly)
c.2432C>G (p.Ala811Gly)
c.2549C>G (p.Ala850Gly)
n.438C>G
c.152C>G (p.Ala51Gly)
c.2561C>G (p.Ala854Gly)
c.2537C>G (p.Ala846Gly)
c.2504C>G (p.Ala835Gly)
c.2447C>G (p.Ala816Gly)
c.2546C>G (p.Ala849Gly)
c.2522C>G (p.Ala841Gly)
c.2357C>G (p.Ala786Gly)
c.2519C>G (p.Ala840Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.16989736G=CA1156021047ATP13A2c.2564C= (p.Ala855=)
c.2432C= (p.Ala811=)
c.2549C= (p.Ala850=)
n.438C=
c.152C= (p.Ala51=)
c.2561C= (p.Ala854=)
c.2537C= (p.Ala846=)
c.2504C= (p.Ala835=)
c.2447C= (p.Ala816=)
c.2546C= (p.Ala849=)
c.2522C= (p.Ala841=)
c.2357C= (p.Ala786=)
c.2519C= (p.Ala840=)
1g.16989736G>TCA636782ATP13A2c.2564C>A (p.Ala855Asp)
c.2432C>A (p.Ala811Asp)
c.2549C>A (p.Ala850Asp)
n.438C>A
c.152C>A (p.Ala51Asp)
c.2561C>A (p.Ala854Asp)
c.2537C>A (p.Ala846Asp)
c.2504C>A (p.Ala835Asp)
c.2447C>A (p.Ala816Asp)
c.2546C>A (p.Ala849Asp)
c.2522C>A (p.Ala841Asp)
c.2357C>A (p.Ala786Asp)
c.2519C>A (p.Ala840Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16989737C>ACA338239614ATP13A2c.2563G>T (p.Ala855Ser)
c.2431G>T (p.Ala811Ser)
c.2548G>T (p.Ala850Ser)
n.437G>T
c.151G>T (p.Ala51Ser)
c.2560G>T (p.Ala854Ser)
c.2536G>T (p.Ala846Ser)
c.2503G>T (p.Ala835Ser)
c.2446G>T (p.Ala816Ser)
c.2545G>T (p.Ala849Ser)
c.2521G>T (p.Ala841Ser)
c.2356G>T (p.Ala786Ser)
c.2518G>T (p.Ala840Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.16989737C=CA1156021053ATP13A2c.2563G= (p.Ala855=)
c.2431G= (p.Ala811=)
c.2548G= (p.Ala850=)
n.437G=
c.151G= (p.Ala51=)
c.2560G= (p.Ala854=)
c.2536G= (p.Ala846=)
c.2503G= (p.Ala835=)
c.2446G= (p.Ala816=)
c.2545G= (p.Ala849=)
c.2521G= (p.Ala841=)
c.2356G= (p.Ala786=)
c.2518G= (p.Ala840=)
1g.16989737C>GCA338239615ATP13A2c.2563G>C (p.Ala855Pro)
c.2431G>C (p.Ala811Pro)
c.2548G>C (p.Ala850Pro)
n.437G>C
c.151G>C (p.Ala51Pro)
c.2560G>C (p.Ala854Pro)
c.2536G>C (p.Ala846Pro)
c.2503G>C (p.Ala835Pro)
c.2446G>C (p.Ala816Pro)
c.2545G>C (p.Ala849Pro)
c.2521G>C (p.Ala841Pro)
c.2356G>C (p.Ala786Pro)
c.2518G>C (p.Ala840Pro)
1g.16989737C>TCA10608214ATP13A2c.2563G>A (p.Ala855Thr)
c.2431G>A (p.Ala811Thr)
c.2548G>A (p.Ala850Thr)
n.437G>A
c.151G>A (p.Ala51Thr)
c.2560G>A (p.Ala854Thr)
c.2536G>A (p.Ala846Thr)
c.2503G>A (p.Ala835Thr)
c.2446G>A (p.Ala816Thr)
c.2545G>A (p.Ala849Thr)
c.2521G>A (p.Ala841Thr)
c.2356G>A (p.Ala786Thr)
c.2518G>A (p.Ala840Thr)
 ClinVar dbSNP gnomAD v4
1g.16989738C>ACA338239619ATP13A2c.2562G>T (p.Met854Ile)
c.2430G>T (p.Met810Ile)
c.2547G>T (p.Met849Ile)
n.436G>T
c.150G>T (p.Met50Ile)
c.2559G>T (p.Met853Ile)
c.2535G>T (p.Met845Ile)
c.2502G>T (p.Met834Ile)
c.2445G>T (p.Met815Ile)
c.2544G>T (p.Met848Ile)
c.2520G>T (p.Met840Ile)
c.2355G>T (p.Met785Ile)
c.2517G>T (p.Met839Ile)
1g.16989738C>GCA338239623ATP13A2c.2562G>C (p.Met854Ile)
c.2430G>C (p.Met810Ile)
c.2547G>C (p.Met849Ile)
n.436G>C
c.150G>C (p.Met50Ile)
c.2559G>C (p.Met853Ile)
c.2535G>C (p.Met845Ile)
c.2502G>C (p.Met834Ile)
c.2445G>C (p.Met815Ile)
c.2544G>C (p.Met848Ile)
c.2520G>C (p.Met840Ile)
c.2355G>C (p.Met785Ile)
c.2517G>C (p.Met839Ile)
1g.16989738C>TCA338239626ATP13A2c.2562G>A (p.Met854Ile)
c.2430G>A (p.Met810Ile)
c.2547G>A (p.Met849Ile)
n.436G>A
c.150G>A (p.Met50Ile)
c.2559G>A (p.Met853Ile)
c.2535G>A (p.Met845Ile)
c.2502G>A (p.Met834Ile)
c.2445G>A (p.Met815Ile)
c.2544G>A (p.Met848Ile)
c.2520G>A (p.Met840Ile)
c.2355G>A (p.Met785Ile)
c.2517G>A (p.Met839Ile)
1g.16989739A=CA1148224177ATP13A2c.2561T= (p.Met854=)
c.2429T= (p.Met810=)
c.2546T= (p.Met849=)
n.435T=
c.149T= (p.Met50=)
c.2558T= (p.Met853=)
c.2534T= (p.Met845=)
c.2501T= (p.Met834=)
c.2444T= (p.Met815=)
c.2543T= (p.Met848=)
c.2519T= (p.Met840=)
c.2354T= (p.Met785=)
c.2516T= (p.Met839=)
1g.16989739A>CCA264798ATP13A2c.2561T>G (p.Met854Arg)
c.2429T>G (p.Met810Arg)
c.2546T>G (p.Met849Arg)
n.435T>G
c.149T>G (p.Met50Arg)
c.2558T>G (p.Met853Arg)
c.2534T>G (p.Met845Arg)
c.2501T>G (p.Met834Arg)
c.2444T>G (p.Met815Arg)
c.2543T>G (p.Met848Arg)
c.2519T>G (p.Met840Arg)
c.2354T>G (p.Met785Arg)
c.2516T>G (p.Met839Arg)
 ClinVar dbSNP gnomAD v4
1g.16989739A>GCA338239631ATP13A2c.2561T>C (p.Met854Thr)
c.2429T>C (p.Met810Thr)
c.2546T>C (p.Met849Thr)
n.435T>C
c.149T>C (p.Met50Thr)
c.2558T>C (p.Met853Thr)
c.2534T>C (p.Met845Thr)
c.2501T>C (p.Met834Thr)
c.2444T>C (p.Met815Thr)
c.2543T>C (p.Met848Thr)
c.2519T>C (p.Met840Thr)
c.2354T>C (p.Met785Thr)
c.2516T>C (p.Met839Thr)
1g.16989739A>TCA338239630ATP13A2c.2561T>A (p.Met854Lys)
c.2429T>A (p.Met810Lys)
c.2546T>A (p.Met849Lys)
n.435T>A
c.149T>A (p.Met50Lys)
c.2558T>A (p.Met853Lys)
c.2534T>A (p.Met845Lys)
c.2501T>A (p.Met834Lys)
c.2444T>A (p.Met815Lys)
c.2543T>A (p.Met848Lys)
c.2519T>A (p.Met840Lys)
c.2354T>A (p.Met785Lys)
c.2516T>A (p.Met839Lys)
1g.16989740T>ACA338239632ATP13A2c.2560A>T (p.Met854Leu)
c.2428A>T (p.Met810Leu)
c.2545A>T (p.Met849Leu)
n.434A>T
c.148A>T (p.Met50Leu)
c.2557A>T (p.Met853Leu)
c.2533A>T (p.Met845Leu)
c.2500A>T (p.Met834Leu)
c.2443A>T (p.Met815Leu)
c.2542A>T (p.Met848Leu)
c.2518A>T (p.Met840Leu)
c.2353A>T (p.Met785Leu)
c.2515A>T (p.Met839Leu)
1g.16989740T>CCA636783ATP13A2c.2560A>G (p.Met854Val)
c.2428A>G (p.Met810Val)
c.2545A>G (p.Met849Val)
n.434A>G
c.148A>G (p.Met50Val)
c.2557A>G (p.Met853Val)
c.2533A>G (p.Met845Val)
c.2500A>G (p.Met834Val)
c.2443A>G (p.Met815Val)
c.2542A>G (p.Met848Val)
c.2518A>G (p.Met840Val)
c.2353A>G (p.Met785Val)
c.2515A>G (p.Met839Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16989740T>GCA338239636ATP13A2c.2560A>C (p.Met854Leu)
c.2428A>C (p.Met810Leu)
c.2545A>C (p.Met849Leu)
n.434A>C
c.148A>C (p.Met50Leu)
c.2557A>C (p.Met853Leu)
c.2533A>C (p.Met845Leu)
c.2500A>C (p.Met834Leu)
c.2443A>C (p.Met815Leu)
c.2542A>C (p.Met848Leu)
c.2518A>C (p.Met840Leu)
c.2353A>C (p.Met785Leu)
c.2515A>C (p.Met839Leu)
1g.16989740T=CA1156021066ATP13A2c.2560A= (p.Met854=)
c.2428A= (p.Met810=)
c.2545A= (p.Met849=)
n.434A=
c.148A= (p.Met50=)
c.2557A= (p.Met853=)
c.2533A= (p.Met845=)
c.2500A= (p.Met834=)
c.2443A= (p.Met815=)
c.2542A= (p.Met848=)
c.2518A= (p.Met840=)
c.2353A= (p.Met785=)
c.2515A= (p.Met839=)
1g.16989741G>ACA416094060ATP13A2c.2559C>T (p.Arg853=)
c.2427C>T (p.Arg809=)
c.2544C>T (p.Arg848=)
n.433C>T
c.147C>T (p.Arg49=)
c.2556C>T (p.Arg852=)
c.2532C>T (p.Arg844=)
c.2499C>T (p.Arg833=)
c.2442C>T (p.Arg814=)
c.2541C>T (p.Arg847=)
c.2517C>T (p.Arg839=)
c.2352C>T (p.Arg784=)
c.2514C>T (p.Arg838=)
 dbSNP gnomAD v2 gnomAD v4
1g.16989741G>CCA416094061ATP13A2c.2559C>G (p.Arg853=)
c.2427C>G (p.Arg809=)
c.2544C>G (p.Arg848=)
n.433C>G
c.147C>G (p.Arg49=)
c.2556C>G (p.Arg852=)
c.2532C>G (p.Arg844=)
c.2499C>G (p.Arg833=)
c.2442C>G (p.Arg814=)
c.2541C>G (p.Arg847=)
c.2517C>G (p.Arg839=)
c.2352C>G (p.Arg784=)
c.2514C>G (p.Arg838=)
1g.16989741G=CA1156021071ATP13A2c.2559C= (p.Arg853=)
c.2427C= (p.Arg809=)
c.2544C= (p.Arg848=)
n.433C=
c.147C= (p.Arg49=)
c.2556C= (p.Arg852=)
c.2532C= (p.Arg844=)
c.2499C= (p.Arg833=)
c.2442C= (p.Arg814=)
c.2541C= (p.Arg847=)
c.2517C= (p.Arg839=)
c.2352C= (p.Arg784=)
c.2514C= (p.Arg838=)
1g.16989741G>TCA416094062ATP13A2c.2559C>A (p.Arg853=)
c.2427C>A (p.Arg809=)
c.2544C>A (p.Arg848=)
n.433C>A
c.147C>A (p.Arg49=)
c.2556C>A (p.Arg852=)
c.2532C>A (p.Arg844=)
c.2499C>A (p.Arg833=)
c.2442C>A (p.Arg814=)
c.2541C>A (p.Arg847=)
c.2517C>A (p.Arg839=)
c.2352C>A (p.Arg784=)
c.2514C>A (p.Arg838=)
1g.16989742C>ACA338239655ATP13A2c.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
1g.16989742C=CA1148273885ATP13A2c.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=)
1g.16989742C>GCA338239659ATP13A2c.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)
1g.16989742C>TCA636784ATP13A2c.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
1g.16989743G>ACA636785ATP13A2c.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
1g.16989743G>CCA338239660ATP13A2c.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
1g.16989743G=CA1156021084ATP13A2c.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=)
1g.16989743G>TCA338239661ATP13A2c.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
1g.16989744G>ACA636786ATP13A2c.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
1g.16989744G>CCA416094067ATP13A2c.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
1g.16989744G=CA1140624952ATP13A2c.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=)
1g.16989744G>TCA416094069ATP13A2c.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
1g.16989745G>ACA338239670ATP13A2c.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
1g.16989745G>CCA338239674ATP13A2c.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)
1g.16989745G>TCA338239666ATP13A2c.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)
1g.16989746C>ACA636787ATP13A2c.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
1g.16989746C=CA1148446632ATP13A2c.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=)
1g.16989746C>GCA338239676ATP13A2c.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)
1g.16989746C>TCA338239686ATP13A2c.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)
1g.16989746_16989748delinsCAACA1156021092ATP13A2c.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=)
1g.16989747A>CCA338239695ATP13A2c.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)
1g.16989747A>GCA416094074ATP13A2c.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=)
1g.16989747A>TCA338239707ATP13A2c.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)
1g.16989747_16989749delinsAAACA1148224178ATP13A2c.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=)
1g.16989748_16989749delCA259916ATP13A2c.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
1g.16989748A>CCA338239714ATP13A2c.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)
1g.16989748A>GCA338239718ATP13A2c.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)
1g.16989748A>TCA338239721ATP13A2c.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)
1g.16989749A>CCA338239723ATP13A2c.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)
1g.16989749A>GCA338239725ATP13A2c.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)
1g.16989749A>TCA338239726ATP13A2c.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)
1g.16989750G>ACA416094079ATP13A2c.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
1g.16989750G>CCA416094081ATP13A2c.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
1g.16989750G>TCA416094080ATP13A2c.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=)
1g.16989751_16989761delCA2580612552ATP13A2c.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
1g.16989751A>CCA338239732ATP13A2c.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)
1g.16989751A>GCA338239751ATP13A2c.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)
1g.16989751A>TCA338239729ATP13A2c.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)
1g.16989752C>ACA338239758ATP13A2c.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)
1g.16989752C=CA1147199638ATP13A2c.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=)
1g.16989752C>GCA18628836ATP13A2c.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
1g.16989752C>TCA338239759ATP13A2c.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
1g.16989752_16989753insGGGGCCATGCGGGCAAAGGCCA2643673199ATP13A2c.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
1g.16989753A>CCA416094085ATP13A2c.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=)
1g.16989753A>GCA416094086ATP13A2c.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=)
1g.16989753A>TCA416094087ATP13A2c.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=)
1g.16989754G>ACA338239760ATP13A2c.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)
1g.16989754G>CCA338239762ATP13A2c.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)
1g.16989754G>TCA338239765ATP13A2c.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)
1g.16989755T>ACA338239777ATP13A2c.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)
1g.16989755T>CCA338239785ATP13A2c.2545A>G (p.Thr849Ala)
c.2413A>G (p.Thr805Ala)
c.2530A>G (p.Thr844Ala)
n.419A>G
c.133A>G (p.Thr45Ala)
c.2542A>G (p.Thr848Ala)
c.2518A>G (p.Thr840Ala)
c.2485A>G (p.Thr829Ala)
c.2428A>G (p.Thr810Ala)
c.2527A>G (p.Thr843Ala)
c.2503A>G (p.Thr835Ala)
c.2338A>G (p.Thr780Ala)
c.2500A>G (p.Thr834Ala)
1g.16989755T>GCA338239778ATP13A2c.2545A>C (p.Thr849Pro)
c.2413A>C (p.Thr805Pro)
c.2530A>C (p.Thr844Pro)
n.419A>C
c.133A>C (p.Thr45Pro)
c.2542A>C (p.Thr848Pro)
c.2518A>C (p.Thr840Pro)
c.2485A>C (p.Thr829Pro)
c.2428A>C (p.Thr810Pro)
c.2527A>C (p.Thr843Pro)
c.2503A>C (p.Thr835Pro)
c.2338A>C (p.Thr780Pro)
c.2500A>C (p.Thr834Pro)
1g.16989756G>ACA636788ATP13A2c.2544C>T (p.Gly848=)
c.2412C>T (p.Gly804=)
c.2529C>T (p.Gly843=)
n.418C>T
c.132C>T (p.Gly44=)
c.2541C>T (p.Gly847=)
c.2517C>T (p.Gly839=)
c.2484C>T (p.Gly828=)
c.2427C>T (p.Gly809=)
c.2526C>T (p.Gly842=)
c.2502C>T (p.Gly834=)
c.2337C>T (p.Gly779=)
c.2499C>T (p.Gly833=)
 ClinVar dbSNP ExAC gnomAD v2
1g.16989756G>CCA416094090ATP13A2c.2544C>G (p.Gly848=)
c.2412C>G (p.Gly804=)
c.2529C>G (p.Gly843=)
n.418C>G
c.132C>G (p.Gly44=)
c.2541C>G (p.Gly847=)
c.2517C>G (p.Gly839=)
c.2484C>G (p.Gly828=)
c.2427C>G (p.Gly809=)
c.2526C>G (p.Gly842=)
c.2502C>G (p.Gly834=)
c.2337C>G (p.Gly779=)
c.2499C>G (p.Gly833=)
1g.16989756G=CA1156021102ATP13A2c.2544C= (p.Gly848=)
c.2412C= (p.Gly804=)
c.2529C= (p.Gly843=)
n.418C=
c.132C= (p.Gly44=)
c.2541C= (p.Gly847=)
c.2517C= (p.Gly839=)
c.2484C= (p.Gly828=)
c.2427C= (p.Gly809=)
c.2526C= (p.Gly842=)
c.2502C= (p.Gly834=)
c.2337C= (p.Gly779=)
c.2499C= (p.Gly833=)
1g.16989756G>TCA416094092ATP13A2c.2544C>A (p.Gly848=)
c.2412C>A (p.Gly804=)
c.2529C>A (p.Gly843=)
n.418C>A
c.132C>A (p.Gly44=)
c.2541C>A (p.Gly847=)
c.2517C>A (p.Gly839=)
c.2484C>A (p.Gly828=)
c.2427C>A (p.Gly809=)
c.2526C>A (p.Gly842=)
c.2502C>A (p.Gly834=)
c.2337C>A (p.Gly779=)
c.2499C>A (p.Gly833=)
1g.16989757C>ACA338239796ATP13A2c.2543G>T (p.Gly848Val)
c.2411G>T (p.Gly804Val)
c.2528G>T (p.Gly843Val)
n.417G>T
c.131G>T (p.Gly44Val)
c.2540G>T (p.Gly847Val)
c.2516G>T (p.Gly839Val)
c.2483G>T (p.Gly828Val)
c.2426G>T (p.Gly809Val)
c.2525G>T (p.Gly842Val)
c.2501G>T (p.Gly834Val)
c.2336G>T (p.Gly779Val)
c.2498G>T (p.Gly833Val)
1g.16989757C>GCA338239804ATP13A2c.2543G>C (p.Gly848Ala)
c.2411G>C (p.Gly804Ala)
c.2528G>C (p.Gly843Ala)
n.417G>C
c.131G>C (p.Gly44Ala)
c.2540G>C (p.Gly847Ala)
c.2516G>C (p.Gly839Ala)
c.2483G>C (p.Gly828Ala)
c.2426G>C (p.Gly809Ala)
c.2525G>C (p.Gly842Ala)
c.2501G>C (p.Gly834Ala)
c.2336G>C (p.Gly779Ala)
c.2498G>C (p.Gly833Ala)
1g.16989757C>TCA338239807ATP13A2c.2543G>A (p.Gly848Asp)
c.2411G>A (p.Gly804Asp)
c.2528G>A (p.Gly843Asp)
n.417G>A
c.131G>A (p.Gly44Asp)
c.2540G>A (p.Gly847Asp)
c.2516G>A (p.Gly839Asp)
c.2483G>A (p.Gly828Asp)
c.2426G>A (p.Gly809Asp)
c.2525G>A (p.Gly842Asp)
c.2501G>A (p.Gly834Asp)
c.2336G>A (p.Gly779Asp)
c.2498G>A (p.Gly833Asp)
1g.16989758C>ACA338239819ATP13A2c.2542G>T (p.Gly848Cys)
c.2410G>T (p.Gly804Cys)
c.2527G>T (p.Gly843Cys)
n.416G>T
c.130G>T (p.Gly44Cys)
c.2539G>T (p.Gly847Cys)
c.2515G>T (p.Gly839Cys)
c.2482G>T (p.Gly828Cys)
c.2425G>T (p.Gly809Cys)
c.2524G>T (p.Gly842Cys)
c.2500G>T (p.Gly834Cys)
c.2335G>T (p.Gly779Cys)
c.2497G>T (p.Gly833Cys)
1g.16989758C>GCA338239817ATP13A2c.2542G>C (p.Gly848Arg)
c.2410G>C (p.Gly804Arg)
c.2527G>C (p.Gly843Arg)
n.416G>C
c.130G>C (p.Gly44Arg)
c.2539G>C (p.Gly847Arg)
c.2515G>C (p.Gly839Arg)
c.2482G>C (p.Gly828Arg)
c.2425G>C (p.Gly809Arg)
c.2524G>C (p.Gly842Arg)
c.2500G>C (p.Gly834Arg)
c.2335G>C (p.Gly779Arg)
c.2497G>C (p.Gly833Arg)
1g.16989758C>TCA338239812ATP13A2c.2542G>A (p.Gly848Ser)
c.2410G>A (p.Gly804Ser)
c.2527G>A (p.Gly843Ser)
n.416G>A
c.130G>A (p.Gly44Ser)
c.2539G>A (p.Gly847Ser)
c.2515G>A (p.Gly839Ser)
c.2482G>A (p.Gly828Ser)
c.2425G>A (p.Gly809Ser)
c.2524G>A (p.Gly842Ser)
c.2500G>A (p.Gly834Ser)
c.2335G>A (p.Gly779Ser)
c.2497G>A (p.Gly833Ser)
 gnomAD v4
1g.16989759C>ACA338239822ATP13A2c.2541G>T (p.Gln847His)
c.2409G>T (p.Gln803His)
c.2526G>T (p.Gln842His)
n.415G>T
c.129G>T (p.Gln43His)
c.2538G>T (p.Gln846His)
c.2514G>T (p.Gln838His)
c.2481G>T (p.Gln827His)
c.2424G>T (p.Gln808His)
c.2523G>T (p.Gln841His)
c.2499G>T (p.Gln833His)
c.2334G>T (p.Gln778His)
c.2496G>T (p.Gln832His)
1g.16989759C>GCA338239824ATP13A2c.2541G>C (p.Gln847His)
c.2409G>C (p.Gln803His)
c.2526G>C (p.Gln842His)
n.415G>C
c.129G>C (p.Gln43His)
c.2538G>C (p.Gln846His)
c.2514G>C (p.Gln838His)
c.2481G>C (p.Gln827His)
c.2424G>C (p.Gln808His)
c.2523G>C (p.Gln841His)
c.2499G>C (p.Gln833His)
c.2334G>C (p.Gln778His)
c.2496G>C (p.Gln832His)
1g.16989759C>TCA416094094ATP13A2c.2541G>A (p.Gln847=)
c.2409G>A (p.Gln803=)
c.2526G>A (p.Gln842=)
n.415G>A
c.129G>A (p.Gln43=)
c.2538G>A (p.Gln846=)
c.2514G>A (p.Gln838=)
c.2481G>A (p.Gln827=)
c.2424G>A (p.Gln808=)
c.2523G>A (p.Gln841=)
c.2499G>A (p.Gln833=)
c.2334G>A (p.Gln778=)
c.2496G>A (p.Gln832=)
1g.16989760T>ACA338239826ATP13A2c.2540A>T (p.Gln847Leu)
c.2408A>T (p.Gln803Leu)
c.2525A>T (p.Gln842Leu)
n.414A>T
c.128A>T (p.Gln43Leu)
c.2537A>T (p.Gln846Leu)
c.2513A>T (p.Gln838Leu)
c.2480A>T (p.Gln827Leu)
c.2423A>T (p.Gln808Leu)
c.2522A>T (p.Gln841Leu)
c.2498A>T (p.Gln833Leu)
c.2333A>T (p.Gln778Leu)
c.2495A>T (p.Gln832Leu)
1g.16989760T>CCA338239827ATP13A2c.2540A>G (p.Gln847Arg)
c.2408A>G (p.Gln803Arg)
c.2525A>G (p.Gln842Arg)
n.414A>G
c.128A>G (p.Gln43Arg)
c.2537A>G (p.Gln846Arg)
c.2513A>G (p.Gln838Arg)
c.2480A>G (p.Gln827Arg)
c.2423A>G (p.Gln808Arg)
c.2522A>G (p.Gln841Arg)
c.2498A>G (p.Gln833Arg)
c.2333A>G (p.Gln778Arg)
c.2495A>G (p.Gln832Arg)
 dbSNP gnomAD v4
1g.16989760T>GCA338239828ATP13A2c.2540A>C (p.Gln847Pro)
c.2408A>C (p.Gln803Pro)
c.2525A>C (p.Gln842Pro)
n.414A>C
c.128A>C (p.Gln43Pro)
c.2537A>C (p.Gln846Pro)
c.2513A>C (p.Gln838Pro)
c.2480A>C (p.Gln827Pro)
c.2423A>C (p.Gln808Pro)
c.2522A>C (p.Gln841Pro)
c.2498A>C (p.Gln833Pro)
c.2333A>C (p.Gln778Pro)
c.2495A>C (p.Gln832Pro)
1g.16989760T=CA1156021108ATP13A2c.2540A= (p.Gln847=)
c.2408A= (p.Gln803=)
c.2525A= (p.Gln842=)
n.414A=
c.128A= (p.Gln43=)
c.2537A= (p.Gln846=)
c.2513A= (p.Gln838=)
c.2480A= (p.Gln827=)
c.2423A= (p.Gln808=)
c.2522A= (p.Gln841=)
c.2498A= (p.Gln833=)
c.2333A= (p.Gln778=)
c.2495A= (p.Gln832=)
1g.16989761G>ACA338239829ATP13A2c.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)
1g.16989761G>CCA338239830ATP13A2c.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)
1g.16989761G>TCA338239834ATP13A2c.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)
1g.16989762G>ACA416094098ATP13A2c.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
1g.16989762G>CCA416094099ATP13A2c.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
1g.16989762G=CA1156021109ATP13A2c.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=)
1g.16989762G>TCA416094100ATP13A2c.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
1g.16989763A>CCA338239836ATP13A2c.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)
1g.16989763A>GCA338239838ATP13A2c.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)
1g.16989763A>TCA338239841ATP13A2c.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)
1g.16989764C>ACA338239844ATP13A2c.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)
1g.16989764C=CA1156021113ATP13A2c.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=)
1g.16989764C>GCA338239856ATP13A2c.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)
1g.16989764C>TCA18628843ATP13A2c.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
1g.16989765C>ACA416094104ATP13A2c.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=)
1g.16989765C=CA1156021114ATP13A2c.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=)
1g.16989765C>GCA416094105ATP13A2c.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=)
1g.16989765C>TCA636789ATP13A2c.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
1g.16989766A>CCA338239871ATP13A2c.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)
1g.16989766A>GCA338239864ATP13A2c.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)
1g.16989766A>TCA338239869ATP13A2c.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
1g.16989767G>ACA416094106ATP13A2c.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=)
1g.16989767G>CCA338239877ATP13A2c.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
1g.16989767G>TCA338239883ATP13A2c.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)
1g.16989768G>ACA416094107ATP13A2c.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=)
1g.16989768G>CCA416094109ATP13A2c.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=)
1g.16989768G=CA1156021120ATP13A2c.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=)
1g.16989768G>TCA416094108ATP13A2c.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
1g.16989769A>CCA338239888ATP13A2c.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)
1g.16989769A>GCA338239891ATP13A2c.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)
1g.16989769A>TCA338239893ATP13A2c.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)
1g.16989770C>ACA338239894ATP13A2c.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)
1g.16989770C>GCA338239904ATP13A2c.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)
1g.16989770C>TCA338239915ATP13A2c.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)
1g.16989771C>ACA338239920ATP13A2c.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)
1g.16989771C>GCA338239924ATP13A2c.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)
1g.16989771C>TCA338239925ATP13A2c.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)
1g.16989772T>ACA338239942ATP13A2c.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)
1g.16989772T>CCA338239936ATP13A2c.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)
1g.16989772T>GCA338239930ATP13A2c.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
1g.16989773G>ACA636790ATP13A2c.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
1g.16989773G=CA1144090070ATP13A2c.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=)
1g.16989774G>ACA1156021134ATP13A2c.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
1g.16989774G=CA1156021130ATP13A2c.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=)
1g.16989775G>ACA521449698ATP13A2c.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
1g.16989775G=CA1156021138ATP13A2c.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=)
1g.16989776A=CA1156021141ATP13A2c.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=)
1g.16989776A>GCA636791ATP13A2c.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
1g.16989779A=CA1143965601ATP13A2c.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=)
1g.16989779A>CCA2643673242ATP13A2c.2530-9T>G (n.2530-9T>G)
c.2398-9T>G (n.2398-9T>G)
c.2515-9T>G (n.2515-9T>G)
n.404-9T>G
c.118-9T>G (n.118-9T>G)
c.2527-9T>G (n.2527-9T>G)
c.2503-9T>G (n.2503-9T>G)
c.2470-9T>G (n.2470-9T>G)
c.2413-9T>G (n.2413-9T>G)
c.2512-9T>G (n.2512-9T>G)
c.2488-9T>G (n.2488-9T>G)
c.2323-9T>G (n.2323-9T>G)
c.2485-9T>G (n.2485-9T>G)
 gnomAD v4
1g.16989779A>GCA636792ATP13A2c.2530-9T>C (n.2530-9T>C)
c.2398-9T>C (n.2398-9T>C)
c.2515-9T>C (n.2515-9T>C)
n.404-9T>C
c.118-9T>C (n.118-9T>C)
c.2527-9T>C (n.2527-9T>C)
c.2503-9T>C (n.2503-9T>C)
c.2470-9T>C (n.2470-9T>C)
c.2413-9T>C (n.2413-9T>C)
c.2512-9T>C (n.2512-9T>C)
c.2488-9T>C (n.2488-9T>C)
c.2323-9T>C (n.2323-9T>C)
c.2485-9T>C (n.2485-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16989780C=CA1156021144ATP13A2c.2530-10G= (n.2530-10G=)
c.2398-10G= (n.2398-10G=)
c.2515-10G= (n.2515-10G=)
n.404-10G=
c.118-10G= (n.118-10G=)
c.2527-10G= (n.2527-10G=)
c.2503-10G= (n.2503-10G=)
c.2470-10G= (n.2470-10G=)
c.2413-10G= (n.2413-10G=)
c.2512-10G= (n.2512-10G=)
c.2488-10G= (n.2488-10G=)
c.2323-10G= (n.2323-10G=)
c.2485-10G= (n.2485-10G=)
1g.16989780C>TCA1156021145ATP13A2c.2530-10G>A (n.2530-10G>A)
c.2398-10G>A (n.2398-10G>A)
c.2515-10G>A (n.2515-10G>A)
n.404-10G>A
c.118-10G>A (n.118-10G>A)
c.2527-10G>A (n.2527-10G>A)
c.2503-10G>A (n.2503-10G>A)
c.2470-10G>A (n.2470-10G>A)
c.2413-10G>A (n.2413-10G>A)
c.2512-10G>A (n.2512-10G>A)
c.2488-10G>A (n.2488-10G>A)
c.2323-10G>A (n.2323-10G>A)
c.2485-10G>A (n.2485-10G>A)
 dbSNP
1g.16989781A=CA1156021146ATP13A2c.2530-11T= (n.2530-11T=)
c.2398-11T= (n.2398-11T=)
c.2515-11T= (n.2515-11T=)
n.404-11T=
c.118-11T= (n.118-11T=)
c.2527-11T= (n.2527-11T=)
c.2503-11T= (n.2503-11T=)
c.2470-11T= (n.2470-11T=)
c.2413-11T= (n.2413-11T=)
c.2512-11T= (n.2512-11T=)
c.2488-11T= (n.2488-11T=)
c.2323-11T= (n.2323-11T=)
c.2485-11T= (n.2485-11T=)
1g.16989781A>GCA521449701ATP13A2c.2530-11T>C (n.2530-11T>C)
c.2398-11T>C (n.2398-11T>C)
c.2515-11T>C (n.2515-11T>C)
n.404-11T>C
c.118-11T>C (n.118-11T>C)
c.2527-11T>C (n.2527-11T>C)
c.2503-11T>C (n.2503-11T>C)
c.2470-11T>C (n.2470-11T>C)
c.2413-11T>C (n.2413-11T>C)
c.2512-11T>C (n.2512-11T>C)
c.2488-11T>C (n.2488-11T>C)
c.2323-11T>C (n.2323-11T>C)
c.2485-11T>C (n.2485-11T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.16989782G>ACA18628855ATP13A2c.2530-12C>T (n.2530-12C>T)
c.2398-12C>T (n.2398-12C>T)
c.2515-12C>T (n.2515-12C>T)
n.404-12C>T
c.118-12C>T (n.118-12C>T)
c.2527-12C>T (n.2527-12C>T)
c.2503-12C>T (n.2503-12C>T)
c.2470-12C>T (n.2470-12C>T)
c.2413-12C>T (n.2413-12C>T)
c.2512-12C>T (n.2512-12C>T)
c.2488-12C>T (n.2488-12C>T)
c.2323-12C>T (n.2323-12C>T)
c.2485-12C>T (n.2485-12C>T)
 dbSNP gnomAD v4
1g.16989782G>CCA521449702ATP13A2c.2530-12C>G (n.2530-12C>G)
c.2398-12C>G (n.2398-12C>G)
c.2515-12C>G (n.2515-12C>G)
n.404-12C>G
c.118-12C>G (n.118-12C>G)
c.2527-12C>G (n.2527-12C>G)
c.2503-12C>G (n.2503-12C>G)
c.2470-12C>G (n.2470-12C>G)
c.2413-12C>G (n.2413-12C>G)
c.2512-12C>G (n.2512-12C>G)
c.2488-12C>G (n.2488-12C>G)
c.2323-12C>G (n.2323-12C>G)
c.2485-12C>G (n.2485-12C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16989782G=CA1156021148ATP13A2c.2530-12C= (n.2530-12C=)
c.2398-12C= (n.2398-12C=)
c.2515-12C= (n.2515-12C=)
n.404-12C=
c.118-12C= (n.118-12C=)
c.2527-12C= (n.2527-12C=)
c.2503-12C= (n.2503-12C=)
c.2470-12C= (n.2470-12C=)
c.2413-12C= (n.2413-12C=)
c.2512-12C= (n.2512-12C=)
c.2488-12C= (n.2488-12C=)
c.2323-12C= (n.2323-12C=)
c.2485-12C= (n.2485-12C=)
1g.16989782G>TCA2838204999ATP13A2c.2530-12C>A (n.2530-12C>A)
c.2398-12C>A (n.2398-12C>A)
c.2515-12C>A (n.2515-12C>A)
n.404-12C>A
c.118-12C>A (n.118-12C>A)
c.2527-12C>A (n.2527-12C>A)
c.2503-12C>A (n.2503-12C>A)
c.2470-12C>A (n.2470-12C>A)
c.2413-12C>A (n.2413-12C>A)
c.2512-12C>A (n.2512-12C>A)
c.2488-12C>A (n.2488-12C>A)
c.2323-12C>A (n.2323-12C>A)
c.2485-12C>A (n.2485-12C>A)
1g.16989783G>ACA1156021154ATP13A2c.2530-13C>T (n.2530-13C>T)
c.2398-13C>T (n.2398-13C>T)
c.2515-13C>T (n.2515-13C>T)
n.404-13C>T
c.118-13C>T (n.118-13C>T)
c.2527-13C>T (n.2527-13C>T)
c.2503-13C>T (n.2503-13C>T)
c.2470-13C>T (n.2470-13C>T)
c.2413-13C>T (n.2413-13C>T)
c.2512-13C>T (n.2512-13C>T)
c.2488-13C>T (n.2488-13C>T)
c.2323-13C>T (n.2323-13C>T)
c.2485-13C>T (n.2485-13C>T)
 dbSNP
1g.16989783G>CCA521449703ATP13A2c.2530-13C>G (n.2530-13C>G)
c.2398-13C>G (n.2398-13C>G)
c.2515-13C>G (n.2515-13C>G)
n.404-13C>G
c.118-13C>G (n.118-13C>G)
c.2527-13C>G (n.2527-13C>G)
c.2503-13C>G (n.2503-13C>G)
c.2470-13C>G (n.2470-13C>G)
c.2413-13C>G (n.2413-13C>G)
c.2512-13C>G (n.2512-13C>G)
c.2488-13C>G (n.2488-13C>G)
c.2323-13C>G (n.2323-13C>G)
c.2485-13C>G (n.2485-13C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.16989783G=CA1156021152ATP13A2c.2530-13C= (n.2530-13C=)
c.2398-13C= (n.2398-13C=)
c.2515-13C= (n.2515-13C=)
n.404-13C=
c.118-13C= (n.118-13C=)
c.2527-13C= (n.2527-13C=)
c.2503-13C= (n.2503-13C=)
c.2470-13C= (n.2470-13C=)
c.2413-13C= (n.2413-13C=)
c.2512-13C= (n.2512-13C=)
c.2488-13C= (n.2488-13C=)
c.2323-13C= (n.2323-13C=)
c.2485-13C= (n.2485-13C=)
1g.16989784G>ACA636794ATP13A2c.2530-14C>T (n.2530-14C>T)
c.2398-14C>T (n.2398-14C>T)
c.2515-14C>T (n.2515-14C>T)
n.404-14C>T
c.118-14C>T (n.118-14C>T)
c.2527-14C>T (n.2527-14C>T)
c.2503-14C>T (n.2503-14C>T)
c.2470-14C>T (n.2470-14C>T)
c.2413-14C>T (n.2413-14C>T)
c.2512-14C>T (n.2512-14C>T)
c.2488-14C>T (n.2488-14C>T)
c.2323-14C>T (n.2323-14C>T)
c.2485-14C>T (n.2485-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16989784G=CA1156021157ATP13A2c.2530-14C= (n.2530-14C=)
c.2398-14C= (n.2398-14C=)
c.2515-14C= (n.2515-14C=)
n.404-14C=
c.118-14C= (n.118-14C=)
c.2527-14C= (n.2527-14C=)
c.2503-14C= (n.2503-14C=)
c.2470-14C= (n.2470-14C=)
c.2413-14C= (n.2413-14C=)
c.2512-14C= (n.2512-14C=)
c.2488-14C= (n.2488-14C=)
c.2323-14C= (n.2323-14C=)
c.2485-14C= (n.2485-14C=)
1g.16989784G>TCA636793ATP13A2c.2530-14C>A (n.2530-14C>A)
c.2398-14C>A (n.2398-14C>A)
c.2515-14C>A (n.2515-14C>A)
n.404-14C>A
c.118-14C>A (n.118-14C>A)
c.2527-14C>A (n.2527-14C>A)
c.2503-14C>A (n.2503-14C>A)
c.2470-14C>A (n.2470-14C>A)
c.2413-14C>A (n.2413-14C>A)
c.2512-14C>A (n.2512-14C>A)
c.2488-14C>A (n.2488-14C>A)
c.2323-14C>A (n.2323-14C>A)
c.2485-14C>A (n.2485-14C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16989786G>TCA2643673268ATP13A2c.2530-16C>A (n.2530-16C>A)
c.2398-16C>A (n.2398-16C>A)
c.2515-16C>A (n.2515-16C>A)
n.404-16C>A
c.118-16C>A (n.118-16C>A)
c.2527-16C>A (n.2527-16C>A)
c.2503-16C>A (n.2503-16C>A)
c.2470-16C>A (n.2470-16C>A)
c.2413-16C>A (n.2413-16C>A)
c.2512-16C>A (n.2512-16C>A)
c.2488-16C>A (n.2488-16C>A)
c.2323-16C>A (n.2323-16C>A)
c.2485-16C>A (n.2485-16C>A)
 gnomAD v4
1g.16989788T>GCA1156021162ATP13A2c.2530-18A>C (n.2530-18A>C)
c.2398-18A>C (n.2398-18A>C)
c.2515-18A>C (n.2515-18A>C)
n.404-18A>C
c.118-18A>C (n.118-18A>C)
c.2527-18A>C (n.2527-18A>C)
c.2503-18A>C (n.2503-18A>C)
c.2470-18A>C (n.2470-18A>C)
c.2413-18A>C (n.2413-18A>C)
c.2512-18A>C (n.2512-18A>C)
c.2488-18A>C (n.2488-18A>C)
c.2323-18A>C (n.2323-18A>C)
c.2485-18A>C (n.2485-18A>C)
 dbSNP
1g.16989788T=CA1156021163ATP13A2c.2530-18A= (n.2530-18A=)
c.2398-18A= (n.2398-18A=)
c.2515-18A= (n.2515-18A=)
n.404-18A=
c.118-18A= (n.118-18A=)
c.2527-18A= (n.2527-18A=)
c.2503-18A= (n.2503-18A=)
c.2470-18A= (n.2470-18A=)
c.2413-18A= (n.2413-18A=)
c.2512-18A= (n.2512-18A=)
c.2488-18A= (n.2488-18A=)
c.2323-18A= (n.2323-18A=)
c.2485-18A= (n.2485-18A=)
1g.16989788_16989791delinsTGGGCA1156021161ATP13A2c.2530-21_2530-18delinsCCCA (n.2530-21_2530-18delinsCCCA)
c.2398-21_2398-18delinsCCCA (n.2398-21_2398-18delinsCCCA)
c.2515-21_2515-18delinsCCCA (n.2515-21_2515-18delinsCCCA)
n.404-21_404-18delinsCCCA
c.118-21_118-18delinsCCCA (n.118-21_118-18delinsCCCA)
c.2527-21_2527-18delinsCCCA (n.2527-21_2527-18delinsCCCA)
c.2503-21_2503-18delinsCCCA (n.2503-21_2503-18delinsCCCA)
c.2470-21_2470-18delinsCCCA (n.2470-21_2470-18delinsCCCA)
c.2413-21_2413-18delinsCCCA (n.2413-21_2413-18delinsCCCA)
c.2512-21_2512-18delinsCCCA (n.2512-21_2512-18delinsCCCA)
c.2488-21_2488-18delinsCCCA (n.2488-21_2488-18delinsCCCA)
c.2323-21_2323-18delinsCCCA (n.2323-21_2323-18delinsCCCA)
c.2485-21_2485-18delinsCCCA (n.2485-21_2485-18delinsCCCA)
1g.16989789G>ACA1156021165ATP13A2c.2530-19C>T (n.2530-19C>T)
c.2398-19C>T (n.2398-19C>T)
c.2515-19C>T (n.2515-19C>T)
n.404-19C>T
c.118-19C>T (n.118-19C>T)
c.2527-19C>T (n.2527-19C>T)
c.2503-19C>T (n.2503-19C>T)
c.2470-19C>T (n.2470-19C>T)
c.2413-19C>T (n.2413-19C>T)
c.2512-19C>T (n.2512-19C>T)
c.2488-19C>T (n.2488-19C>T)
c.2323-19C>T (n.2323-19C>T)
c.2485-19C>T (n.2485-19C>T)
 dbSNP
1g.16989789G>CCA2574234793ATP13A2c.2530-19C>G (n.2530-19C>G)
c.2398-19C>G (n.2398-19C>G)
c.2515-19C>G (n.2515-19C>G)
n.404-19C>G
c.118-19C>G (n.118-19C>G)
c.2527-19C>G (n.2527-19C>G)
c.2503-19C>G (n.2503-19C>G)
c.2470-19C>G (n.2470-19C>G)
c.2413-19C>G (n.2413-19C>G)
c.2512-19C>G (n.2512-19C>G)
c.2488-19C>G (n.2488-19C>G)
c.2323-19C>G (n.2323-19C>G)
c.2485-19C>G (n.2485-19C>G)
1g.16989789G=CA1156021164ATP13A2c.2530-19C= (n.2530-19C=)
c.2398-19C= (n.2398-19C=)
c.2515-19C= (n.2515-19C=)
n.404-19C=
c.118-19C= (n.118-19C=)
c.2527-19C= (n.2527-19C=)
c.2503-19C= (n.2503-19C=)
c.2470-19C= (n.2470-19C=)
c.2413-19C= (n.2413-19C=)
c.2512-19C= (n.2512-19C=)
c.2488-19C= (n.2488-19C=)
c.2323-19C= (n.2323-19C=)
c.2485-19C= (n.2485-19C=)
1g.16989789G>TCA2643673270ATP13A2c.2530-19C>A (n.2530-19C>A)
c.2398-19C>A (n.2398-19C>A)
c.2515-19C>A (n.2515-19C>A)
n.404-19C>A
c.118-19C>A (n.118-19C>A)
c.2527-19C>A (n.2527-19C>A)
c.2503-19C>A (n.2503-19C>A)
c.2470-19C>A (n.2470-19C>A)
c.2413-19C>A (n.2413-19C>A)
c.2512-19C>A (n.2512-19C>A)
c.2488-19C>A (n.2488-19C>A)
c.2323-19C>A (n.2323-19C>A)
c.2485-19C>A (n.2485-19C>A)
 gnomAD v4
1g.16989793dupCA2840346329ATP13A2c.2530-19dup (n.2530-19dup)
c.2398-19dup (n.2398-19dup)
c.2515-19dup (n.2515-19dup)
n.404-19dup
c.118-19dup (n.118-19dup)
c.2527-19dup (n.2527-19dup)
c.2503-19dup (n.2503-19dup)
c.2470-19dup (n.2470-19dup)
c.2413-19dup (n.2413-19dup)
c.2512-19dup (n.2512-19dup)
c.2488-19dup (n.2488-19dup)
c.2323-19dup (n.2323-19dup)
c.2485-19dup (n.2485-19dup)
1g.16989793delCA521449704ATP13A2c.2530-19del (n.2530-19del)
c.2398-19del (n.2398-19del)
c.2515-19del (n.2515-19del)
n.404-19del
c.118-19del (n.118-19del)
c.2527-19del (n.2527-19del)
c.2503-19del (n.2503-19del)
c.2470-19del (n.2470-19del)
c.2413-19del (n.2413-19del)
c.2512-19del (n.2512-19del)
c.2488-19del (n.2488-19del)
c.2323-19del (n.2323-19del)
c.2485-19del (n.2485-19del)
 dbSNP gnomAD v2
1g.16989791_16989793delCA999086660ATP13A2c.2530-21_2530-19del (n.2530-21_2530-19del)
c.2398-21_2398-19del (n.2398-21_2398-19del)
c.2515-21_2515-19del (n.2515-21_2515-19del)
n.404-21_404-19del
c.118-21_118-19del (n.118-21_118-19del)
c.2527-21_2527-19del (n.2527-21_2527-19del)
c.2503-21_2503-19del (n.2503-21_2503-19del)
c.2470-21_2470-19del (n.2470-21_2470-19del)
c.2413-21_2413-19del (n.2413-21_2413-19del)
c.2512-21_2512-19del (n.2512-21_2512-19del)
c.2488-21_2488-19del (n.2488-21_2488-19del)
c.2323-21_2323-19del (n.2323-21_2323-19del)
c.2485-21_2485-19del (n.2485-21_2485-19del)
 dbSNP gnomAD v3 gnomAD v4
1g.16989791G>ACA521449705ATP13A2c.2530-21C>T (n.2530-21C>T)
c.2398-21C>T (n.2398-21C>T)
c.2515-21C>T (n.2515-21C>T)
n.404-21C>T
c.118-21C>T (n.118-21C>T)
c.2527-21C>T (n.2527-21C>T)
c.2503-21C>T (n.2503-21C>T)
c.2470-21C>T (n.2470-21C>T)
c.2413-21C>T (n.2413-21C>T)
c.2512-21C>T (n.2512-21C>T)
c.2488-21C>T (n.2488-21C>T)
c.2323-21C>T (n.2323-21C>T)
c.2485-21C>T (n.2485-21C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.16989791G=CA1156021166ATP13A2c.2530-21C= (n.2530-21C=)
c.2398-21C= (n.2398-21C=)
c.2515-21C= (n.2515-21C=)
n.404-21C=
c.118-21C= (n.118-21C=)
c.2527-21C= (n.2527-21C=)
c.2503-21C= (n.2503-21C=)
c.2470-21C= (n.2470-21C=)
c.2413-21C= (n.2413-21C=)
c.2512-21C= (n.2512-21C=)
c.2488-21C= (n.2488-21C=)
c.2323-21C= (n.2323-21C=)
c.2485-21C= (n.2485-21C=)
1g.16989794A>TCA2830850709ATP13A2c.2530-24T>A (n.2530-24T>A)
c.2398-24T>A (n.2398-24T>A)
c.2515-24T>A (n.2515-24T>A)
n.404-24T>A
c.118-24T>A (n.118-24T>A)
c.2527-24T>A (n.2527-24T>A)
c.2503-24T>A (n.2503-24T>A)
c.2470-24T>A (n.2470-24T>A)
c.2413-24T>A (n.2413-24T>A)
c.2512-24T>A (n.2512-24T>A)
c.2488-24T>A (n.2488-24T>A)
c.2323-24T>A (n.2323-24T>A)
c.2485-24T>A (n.2485-24T>A)
1g.16989795G>ACA636795ATP13A2c.2530-25C>T (n.2530-25C>T)
c.2398-25C>T (n.2398-25C>T)
c.2515-25C>T (n.2515-25C>T)
n.404-25C>T
c.118-25C>T (n.118-25C>T)
c.2527-25C>T (n.2527-25C>T)
c.2503-25C>T (n.2503-25C>T)
c.2470-25C>T (n.2470-25C>T)
c.2413-25C>T (n.2413-25C>T)
c.2512-25C>T (n.2512-25C>T)
c.2488-25C>T (n.2488-25C>T)
c.2323-25C>T (n.2323-25C>T)
c.2485-25C>T (n.2485-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16989795G=CA1156021167ATP13A2c.2530-25C= (n.2530-25C=)
c.2398-25C= (n.2398-25C=)
c.2515-25C= (n.2515-25C=)
n.404-25C=
c.118-25C= (n.118-25C=)
c.2527-25C= (n.2527-25C=)
c.2503-25C= (n.2503-25C=)
c.2470-25C= (n.2470-25C=)
c.2413-25C= (n.2413-25C=)
c.2512-25C= (n.2512-25C=)
c.2488-25C= (n.2488-25C=)
c.2323-25C= (n.2323-25C=)
c.2485-25C= (n.2485-25C=)
1g.16989797G>ACA2574234800ATP13A2c.2530-27C>T (n.2530-27C>T)
c.2398-27C>T (n.2398-27C>T)
c.2515-27C>T (n.2515-27C>T)
n.404-27C>T
c.118-27C>T (n.118-27C>T)
c.2527-27C>T (n.2527-27C>T)
c.2503-27C>T (n.2503-27C>T)
c.2470-27C>T (n.2470-27C>T)
c.2413-27C>T (n.2413-27C>T)
c.2512-27C>T (n.2512-27C>T)
c.2488-27C>T (n.2488-27C>T)
c.2323-27C>T (n.2323-27C>T)
c.2485-27C>T (n.2485-27C>T)
1g.16989797G>TCA2643673281ATP13A2c.2530-27C>A (n.2530-27C>A)
c.2398-27C>A (n.2398-27C>A)
c.2515-27C>A (n.2515-27C>A)
n.404-27C>A
c.118-27C>A (n.118-27C>A)
c.2527-27C>A (n.2527-27C>A)
c.2503-27C>A (n.2503-27C>A)
c.2470-27C>A (n.2470-27C>A)
c.2413-27C>A (n.2413-27C>A)
c.2512-27C>A (n.2512-27C>A)
c.2488-27C>A (n.2488-27C>A)
c.2323-27C>A (n.2323-27C>A)
c.2485-27C>A (n.2485-27C>A)
 gnomAD v4
1g.16989800G>ACA18628857ATP13A2c.2530-30C>T (n.2530-30C>T)
c.2398-30C>T (n.2398-30C>T)
c.2515-30C>T (n.2515-30C>T)
n.404-30C>T
c.118-30C>T (n.118-30C>T)
c.2527-30C>T (n.2527-30C>T)
c.2503-30C>T (n.2503-30C>T)
c.2470-30C>T (n.2470-30C>T)
c.2413-30C>T (n.2413-30C>T)
c.2512-30C>T (n.2512-30C>T)
c.2488-30C>T (n.2488-30C>T)
c.2323-30C>T (n.2323-30C>T)
c.2485-30C>T (n.2485-30C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16989800G=CA1156021168ATP13A2c.2530-30C= (n.2530-30C=)
c.2398-30C= (n.2398-30C=)
c.2515-30C= (n.2515-30C=)
n.404-30C=
c.118-30C= (n.118-30C=)
c.2527-30C= (n.2527-30C=)
c.2503-30C= (n.2503-30C=)
c.2470-30C= (n.2470-30C=)
c.2413-30C= (n.2413-30C=)
c.2512-30C= (n.2512-30C=)
c.2488-30C= (n.2488-30C=)
c.2323-30C= (n.2323-30C=)
c.2485-30C= (n.2485-30C=)
1g.16989802G>ACA2643673287ATP13A2c.2530-32C>T (n.2530-32C>T)
c.2398-32C>T (n.2398-32C>T)
c.2515-32C>T (n.2515-32C>T)
n.404-32C>T
c.118-32C>T (n.118-32C>T)
c.2527-32C>T (n.2527-32C>T)
c.2503-32C>T (n.2503-32C>T)
c.2470-32C>T (n.2470-32C>T)
c.2413-32C>T (n.2413-32C>T)
c.2512-32C>T (n.2512-32C>T)
c.2488-32C>T (n.2488-32C>T)
c.2323-32C>T (n.2323-32C>T)
c.2485-32C>T (n.2485-32C>T)
 gnomAD v4
1g.16989804C>TCA2574234807ATP13A2c.2530-34G>A (n.2530-34G>A)
c.2398-34G>A (n.2398-34G>A)
c.2515-34G>A (n.2515-34G>A)
n.404-34G>A
c.118-34G>A (n.118-34G>A)
c.2527-34G>A (n.2527-34G>A)
c.2503-34G>A (n.2503-34G>A)
c.2470-34G>A (n.2470-34G>A)
c.2413-34G>A (n.2413-34G>A)
c.2512-34G>A (n.2512-34G>A)
c.2488-34G>A (n.2488-34G>A)
c.2323-34G>A (n.2323-34G>A)
c.2485-34G>A (n.2485-34G>A)
1g.16989805A=CA1156021169ATP13A2c.2530-35T= (n.2530-35T=)
c.2398-35T= (n.2398-35T=)
c.2515-35T= (n.2515-35T=)
n.404-35T=
c.118-35T= (n.118-35T=)
c.2527-35T= (n.2527-35T=)
c.2503-35T= (n.2503-35T=)
c.2470-35T= (n.2470-35T=)
c.2413-35T= (n.2413-35T=)
c.2512-35T= (n.2512-35T=)
c.2488-35T= (n.2488-35T=)
c.2323-35T= (n.2323-35T=)
c.2485-35T= (n.2485-35T=)
1g.16989805A>CCA1156021170ATP13A2c.2530-35T>G (n.2530-35T>G)
c.2398-35T>G (n.2398-35T>G)
c.2515-35T>G (n.2515-35T>G)
n.404-35T>G
c.118-35T>G (n.118-35T>G)
c.2527-35T>G (n.2527-35T>G)
c.2503-35T>G (n.2503-35T>G)
c.2470-35T>G (n.2470-35T>G)
c.2413-35T>G (n.2413-35T>G)
c.2512-35T>G (n.2512-35T>G)
c.2488-35T>G (n.2488-35T>G)
c.2323-35T>G (n.2323-35T>G)
c.2485-35T>G (n.2485-35T>G)
 dbSNP gnomAD v4
1g.16989807C>TCA2643673288ATP13A2c.2530-37G>A (n.2530-37G>A)
c.2398-37G>A (n.2398-37G>A)
c.2515-37G>A (n.2515-37G>A)
n.404-37G>A
c.118-37G>A (n.118-37G>A)
c.2527-37G>A (n.2527-37G>A)
c.2503-37G>A (n.2503-37G>A)
c.2470-37G>A (n.2470-37G>A)
c.2413-37G>A (n.2413-37G>A)
c.2512-37G>A (n.2512-37G>A)
c.2488-37G>A (n.2488-37G>A)
c.2323-37G>A (n.2323-37G>A)
c.2485-37G>A (n.2485-37G>A)
 gnomAD v4
1g.16989808C>TCA2643673290ATP13A2c.2530-38G>A (n.2530-38G>A)
c.2398-38G>A (n.2398-38G>A)
c.2515-38G>A (n.2515-38G>A)
n.404-38G>A
c.118-38G>A (n.118-38G>A)
c.2527-38G>A (n.2527-38G>A)
c.2503-38G>A (n.2503-38G>A)
c.2470-38G>A (n.2470-38G>A)
c.2413-38G>A (n.2413-38G>A)
c.2512-38G>A (n.2512-38G>A)
c.2488-38G>A (n.2488-38G>A)
c.2323-38G>A (n.2323-38G>A)
c.2485-38G>A (n.2485-38G>A)
 gnomAD v4
1g.16989809A>CCA2643673291ATP13A2c.2530-39T>G (n.2530-39T>G)
c.2398-39T>G (n.2398-39T>G)
c.2515-39T>G (n.2515-39T>G)
n.404-39T>G
c.118-39T>G (n.118-39T>G)
c.2527-39T>G (n.2527-39T>G)
c.2503-39T>G (n.2503-39T>G)
c.2470-39T>G (n.2470-39T>G)
c.2413-39T>G (n.2413-39T>G)
c.2512-39T>G (n.2512-39T>G)
c.2488-39T>G (n.2488-39T>G)
c.2323-39T>G (n.2323-39T>G)
c.2485-39T>G (n.2485-39T>G)
 gnomAD v4
1g.16989809dupCA2742637063ATP13A2c.2530-39dup (n.2530-39dup)
c.2398-39dup (n.2398-39dup)
c.2515-39dup (n.2515-39dup)
n.404-39dup
c.118-39dup (n.118-39dup)
c.2527-39dup (n.2527-39dup)
c.2503-39dup (n.2503-39dup)
c.2470-39dup (n.2470-39dup)
c.2413-39dup (n.2413-39dup)
c.2512-39dup (n.2512-39dup)
c.2488-39dup (n.2488-39dup)
c.2323-39dup (n.2323-39dup)
c.2485-39dup (n.2485-39dup)
1g.16989810C=CA1156021171ATP13A2c.2530-40G= (n.2530-40G=)
c.2398-40G= (n.2398-40G=)
c.2515-40G= (n.2515-40G=)
n.404-40G=
c.118-40G= (n.118-40G=)
c.2527-40G= (n.2527-40G=)
c.2503-40G= (n.2503-40G=)
c.2470-40G= (n.2470-40G=)
c.2413-40G= (n.2413-40G=)
c.2512-40G= (n.2512-40G=)
c.2488-40G= (n.2488-40G=)
c.2323-40G= (n.2323-40G=)
c.2485-40G= (n.2485-40G=)
1g.16989810C>GCA18628861ATP13A2c.2530-40G>C (n.2530-40G>C)
c.2398-40G>C (n.2398-40G>C)
c.2515-40G>C (n.2515-40G>C)
n.404-40G>C
c.118-40G>C (n.118-40G>C)
c.2527-40G>C (n.2527-40G>C)
c.2503-40G>C (n.2503-40G>C)
c.2470-40G>C (n.2470-40G>C)
c.2413-40G>C (n.2413-40G>C)
c.2512-40G>C (n.2512-40G>C)
c.2488-40G>C (n.2488-40G>C)
c.2323-40G>C (n.2323-40G>C)
c.2485-40G>C (n.2485-40G>C)
 dbSNP
1g.16989810_16989811insACACCCAACA2742637064ATP13A2c.2530-41_2530-40insTTGGGTGT (n.2530-41_2530-40insTTGGGTGT)
c.2398-41_2398-40insTTGGGTGT (n.2398-41_2398-40insTTGGGTGT)
c.2515-41_2515-40insTTGGGTGT (n.2515-41_2515-40insTTGGGTGT)
n.404-41_404-40insTTGGGTGT
c.118-41_118-40insTTGGGTGT (n.118-41_118-40insTTGGGTGT)
c.2527-41_2527-40insTTGGGTGT (n.2527-41_2527-40insTTGGGTGT)
c.2503-41_2503-40insTTGGGTGT (n.2503-41_2503-40insTTGGGTGT)
c.2470-41_2470-40insTTGGGTGT (n.2470-41_2470-40insTTGGGTGT)
c.2413-41_2413-40insTTGGGTGT (n.2413-41_2413-40insTTGGGTGT)
c.2512-41_2512-40insTTGGGTGT (n.2512-41_2512-40insTTGGGTGT)
c.2488-41_2488-40insTTGGGTGT (n.2488-41_2488-40insTTGGGTGT)
c.2323-41_2323-40insTTGGGTGT (n.2323-41_2323-40insTTGGGTGT)
c.2485-41_2485-40insTTGGGTGT (n.2485-41_2485-40insTTGGGTGT)
1g.16989811C>TCA2643673299ATP13A2c.2530-41G>A (n.2530-41G>A)
c.2398-41G>A (n.2398-41G>A)
c.2515-41G>A (n.2515-41G>A)
n.404-41G>A
c.118-41G>A (n.118-41G>A)
c.2527-41G>A (n.2527-41G>A)
c.2503-41G>A (n.2503-41G>A)
c.2470-41G>A (n.2470-41G>A)
c.2413-41G>A (n.2413-41G>A)
c.2512-41G>A (n.2512-41G>A)
c.2488-41G>A (n.2488-41G>A)
c.2323-41G>A (n.2323-41G>A)
c.2485-41G>A (n.2485-41G>A)
 gnomAD v4
1g.16989811_16989812insTGTCCA2643673293ATP13A2c.2530-41_2530-40insACAG (n.2530-41_2530-40insACAG)
c.2398-41_2398-40insACAG (n.2398-41_2398-40insACAG)
c.2515-41_2515-40insACAG (n.2515-41_2515-40insACAG)
n.404-41_404-40insACAG
c.118-41_118-40insACAG (n.118-41_118-40insACAG)
c.2527-41_2527-40insACAG (n.2527-41_2527-40insACAG)
c.2503-41_2503-40insACAG (n.2503-41_2503-40insACAG)
c.2470-41_2470-40insACAG (n.2470-41_2470-40insACAG)
c.2413-41_2413-40insACAG (n.2413-41_2413-40insACAG)
c.2512-41_2512-40insACAG (n.2512-41_2512-40insACAG)
c.2488-41_2488-40insACAG (n.2488-41_2488-40insACAG)
c.2323-41_2323-40insACAG (n.2323-41_2323-40insACAG)
c.2485-41_2485-40insACAG (n.2485-41_2485-40insACAG)
 gnomAD v4
1g.16989813G>ACA1156021173ATP13A2c.2530-43C>T (n.2530-43C>T)
c.2398-43C>T (n.2398-43C>T)
c.2515-43C>T (n.2515-43C>T)
n.404-43C>T
c.118-43C>T (n.118-43C>T)
c.2527-43C>T (n.2527-43C>T)
c.2503-43C>T (n.2503-43C>T)
c.2470-43C>T (n.2470-43C>T)
c.2413-43C>T (n.2413-43C>T)
c.2512-43C>T (n.2512-43C>T)
c.2488-43C>T (n.2488-43C>T)
c.2323-43C>T (n.2323-43C>T)
c.2485-43C>T (n.2485-43C>T)
 dbSNP gnomAD v4
1g.16989813G=CA1156021172ATP13A2c.2530-43C= (n.2530-43C=)
c.2398-43C= (n.2398-43C=)
c.2515-43C= (n.2515-43C=)
n.404-43C=
c.118-43C= (n.118-43C=)
c.2527-43C= (n.2527-43C=)
c.2503-43C= (n.2503-43C=)
c.2470-43C= (n.2470-43C=)
c.2413-43C= (n.2413-43C=)
c.2512-43C= (n.2512-43C=)
c.2488-43C= (n.2488-43C=)
c.2323-43C= (n.2323-43C=)
c.2485-43C= (n.2485-43C=)
1g.16989814_16989815insAAGTTGTTGTGAAGATGAAGTGCCTAGCACAGTGGCA2643673301ATP13A2c.2530-43_2530-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2530-43_2530-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2398-43_2398-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2398-43_2398-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2515-43_2515-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2515-43_2515-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
n.404-43_404-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC
c.118-43_118-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.118-43_118-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2527-43_2527-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2527-43_2527-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2503-43_2503-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2503-43_2503-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2470-43_2470-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2470-43_2470-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2413-43_2413-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2413-43_2413-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2512-43_2512-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2512-43_2512-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2488-43_2488-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2488-43_2488-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2323-43_2323-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2323-43_2323-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
c.2485-43_2485-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC (n.2485-43_2485-42insACTGTGCTAGGCACTTCATCTTCACAACAACTTCC)
 gnomAD v4
1g.16989814G>ACA521449706ATP13A2c.2530-44C>T (n.2530-44C>T)
c.2398-44C>T (n.2398-44C>T)
c.2515-44C>T (n.2515-44C>T)
n.404-44C>T
c.118-44C>T (n.118-44C>T)
c.2527-44C>T (n.2527-44C>T)
c.2503-44C>T (n.2503-44C>T)
c.2470-44C>T (n.2470-44C>T)
c.2413-44C>T (n.2413-44C>T)
c.2512-44C>T (n.2512-44C>T)
c.2488-44C>T (n.2488-44C>T)
c.2323-44C>T (n.2323-44C>T)
c.2485-44C>T (n.2485-44C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.16989814G>CCA2643673304ATP13A2c.2530-44C>G (n.2530-44C>G)
c.2398-44C>G (n.2398-44C>G)
c.2515-44C>G (n.2515-44C>G)
n.404-44C>G
c.118-44C>G (n.118-44C>G)
c.2527-44C>G (n.2527-44C>G)
c.2503-44C>G (n.2503-44C>G)
c.2470-44C>G (n.2470-44C>G)
c.2413-44C>G (n.2413-44C>G)
c.2512-44C>G (n.2512-44C>G)
c.2488-44C>G (n.2488-44C>G)
c.2323-44C>G (n.2323-44C>G)
c.2485-44C>G (n.2485-44C>G)
 gnomAD v4
1g.16989814G=CA1156021175ATP13A2c.2530-44C= (n.2530-44C=)
c.2398-44C= (n.2398-44C=)
c.2515-44C= (n.2515-44C=)
n.404-44C=
c.118-44C= (n.118-44C=)
c.2527-44C= (n.2527-44C=)
c.2503-44C= (n.2503-44C=)
c.2470-44C= (n.2470-44C=)
c.2413-44C= (n.2413-44C=)
c.2512-44C= (n.2512-44C=)
c.2488-44C= (n.2488-44C=)
c.2323-44C= (n.2323-44C=)
c.2485-44C= (n.2485-44C=)
1g.16989814G>TCA2742637065ATP13A2c.2530-44C>A (n.2530-44C>A)
c.2398-44C>A (n.2398-44C>A)
c.2515-44C>A (n.2515-44C>A)
n.404-44C>A
c.118-44C>A (n.118-44C>A)
c.2527-44C>A (n.2527-44C>A)
c.2503-44C>A (n.2503-44C>A)
c.2470-44C>A (n.2470-44C>A)
c.2413-44C>A (n.2413-44C>A)
c.2512-44C>A (n.2512-44C>A)
c.2488-44C>A (n.2488-44C>A)
c.2323-44C>A (n.2323-44C>A)
c.2485-44C>A (n.2485-44C>A)
1g.16989816A=CA1156021176ATP13A2c.2530-46T= (n.2530-46T=)
c.2398-46T= (n.2398-46T=)
c.2515-46T= (n.2515-46T=)
n.404-46T=
c.118-46T= (n.118-46T=)
c.2527-46T= (n.2527-46T=)
c.2503-46T= (n.2503-46T=)
c.2470-46T= (n.2470-46T=)
c.2413-46T= (n.2413-46T=)
c.2512-46T= (n.2512-46T=)
c.2488-46T= (n.2488-46T=)
c.2323-46T= (n.2323-46T=)
c.2485-46T= (n.2485-46T=)
1g.16989816A>GCA636796ATP13A2c.2530-46T>C (n.2530-46T>C)
c.2398-46T>C (n.2398-46T>C)
c.2515-46T>C (n.2515-46T>C)
n.404-46T>C
c.118-46T>C (n.118-46T>C)
c.2527-46T>C (n.2527-46T>C)
c.2503-46T>C (n.2503-46T>C)
c.2470-46T>C (n.2470-46T>C)
c.2413-46T>C (n.2413-46T>C)
c.2512-46T>C (n.2512-46T>C)
c.2488-46T>C (n.2488-46T>C)
c.2323-46T>C (n.2323-46T>C)
c.2485-46T>C (n.2485-46T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16989817G>ACA2643673310ATP13A2c.2530-47C>T (n.2530-47C>T)
c.2398-47C>T (n.2398-47C>T)
c.2515-47C>T (n.2515-47C>T)
n.404-47C>T
c.118-47C>T (n.118-47C>T)
c.2527-47C>T (n.2527-47C>T)
c.2503-47C>T (n.2503-47C>T)
c.2470-47C>T (n.2470-47C>T)
c.2413-47C>T (n.2413-47C>T)
c.2512-47C>T (n.2512-47C>T)
c.2488-47C>T (n.2488-47C>T)
c.2323-47C>T (n.2323-47C>T)
c.2485-47C>T (n.2485-47C>T)
 gnomAD v4
1g.16989817G>CCA1156021179ATP13A2c.2530-47C>G (n.2530-47C>G)
c.2398-47C>G (n.2398-47C>G)
c.2515-47C>G (n.2515-47C>G)
n.404-47C>G
c.118-47C>G (n.118-47C>G)
c.2527-47C>G (n.2527-47C>G)
c.2503-47C>G (n.2503-47C>G)
c.2470-47C>G (n.2470-47C>G)
c.2413-47C>G (n.2413-47C>G)
c.2512-47C>G (n.2512-47C>G)
c.2488-47C>G (n.2488-47C>G)
c.2323-47C>G (n.2323-47C>G)
c.2485-47C>G (n.2485-47C>G)
 dbSNP
1g.16989817G=CA1156021178ATP13A2c.2530-47C= (n.2530-47C=)
c.2398-47C= (n.2398-47C=)
c.2515-47C= (n.2515-47C=)
n.404-47C=
c.118-47C= (n.118-47C=)
c.2527-47C= (n.2527-47C=)
c.2503-47C= (n.2503-47C=)
c.2470-47C= (n.2470-47C=)
c.2413-47C= (n.2413-47C=)
c.2512-47C= (n.2512-47C=)
c.2488-47C= (n.2488-47C=)
c.2323-47C= (n.2323-47C=)
c.2485-47C= (n.2485-47C=)
1g.16989819G>ACA2574234817ATP13A2c.2530-49C>T (n.2530-49C>T)
c.2398-49C>T (n.2398-49C>T)
c.2515-49C>T (n.2515-49C>T)
n.404-49C>T
c.118-49C>T (n.118-49C>T)
c.2527-49C>T (n.2527-49C>T)
c.2503-49C>T (n.2503-49C>T)
c.2470-49C>T (n.2470-49C>T)
c.2413-49C>T (n.2413-49C>T)
c.2512-49C>T (n.2512-49C>T)
c.2488-49C>T (n.2488-49C>T)
c.2323-49C>T (n.2323-49C>T)
c.2485-49C>T (n.2485-49C>T)
1g.16989819G=CA1156021180ATP13A2c.2530-49C= (n.2530-49C=)
c.2398-49C= (n.2398-49C=)
c.2515-49C= (n.2515-49C=)
n.404-49C=
c.118-49C= (n.118-49C=)
c.2527-49C= (n.2527-49C=)
c.2503-49C= (n.2503-49C=)
c.2470-49C= (n.2470-49C=)
c.2413-49C= (n.2413-49C=)
c.2512-49C= (n.2512-49C=)
c.2488-49C= (n.2488-49C=)
c.2323-49C= (n.2323-49C=)
c.2485-49C= (n.2485-49C=)
1g.16989819G>TCA18628925ATP13A2c.2530-49C>A (n.2530-49C>A)
c.2398-49C>A (n.2398-49C>A)
c.2515-49C>A (n.2515-49C>A)
n.404-49C>A
c.118-49C>A (n.118-49C>A)
c.2527-49C>A (n.2527-49C>A)
c.2503-49C>A (n.2503-49C>A)
c.2470-49C>A (n.2470-49C>A)
c.2413-49C>A (n.2413-49C>A)
c.2512-49C>A (n.2512-49C>A)
c.2488-49C>A (n.2488-49C>A)
c.2323-49C>A (n.2323-49C>A)
c.2485-49C>A (n.2485-49C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.16989820C>ACA1156021183ATP13A2c.2530-50G>T (n.2530-50G>T)
c.2398-50G>T (n.2398-50G>T)
c.2515-50G>T (n.2515-50G>T)
n.404-50G>T
c.118-50G>T (n.118-50G>T)
c.2527-50G>T (n.2527-50G>T)
c.2503-50G>T (n.2503-50G>T)
c.2470-50G>T (n.2470-50G>T)
c.2413-50G>T (n.2413-50G>T)
c.2512-50G>T (n.2512-50G>T)
c.2488-50G>T (n.2488-50G>T)
c.2323-50G>T (n.2323-50G>T)
c.2485-50G>T (n.2485-50G>T)
 dbSNP gnomAD v4
1g.16989820C=CA1156021182ATP13A2c.2530-50G= (n.2530-50G=)
c.2398-50G= (n.2398-50G=)
c.2515-50G= (n.2515-50G=)
n.404-50G=
c.118-50G= (n.118-50G=)
c.2527-50G= (n.2527-50G=)
c.2503-50G= (n.2503-50G=)
c.2470-50G= (n.2470-50G=)
c.2413-50G= (n.2413-50G=)
c.2512-50G= (n.2512-50G=)
c.2488-50G= (n.2488-50G=)
c.2323-50G= (n.2323-50G=)
c.2485-50G= (n.2485-50G=)
1g.16989820C>GCA636797ATP13A2c.2530-50G>C (n.2530-50G>C)
c.2398-50G>C (n.2398-50G>C)
c.2515-50G>C (n.2515-50G>C)
n.404-50G>C
c.118-50G>C (n.118-50G>C)
c.2527-50G>C (n.2527-50G>C)
c.2503-50G>C (n.2503-50G>C)
c.2470-50G>C (n.2470-50G>C)
c.2413-50G>C (n.2413-50G>C)
c.2512-50G>C (n.2512-50G>C)
c.2488-50G>C (n.2488-50G>C)
c.2323-50G>C (n.2323-50G>C)
c.2485-50G>C (n.2485-50G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16989820C>TCA636798ATP13A2c.2530-50G>A (n.2530-50G>A)
c.2398-50G>A (n.2398-50G>A)
c.2515-50G>A (n.2515-50G>A)
n.404-50G>A
c.118-50G>A (n.118-50G>A)
c.2527-50G>A (n.2527-50G>A)
c.2503-50G>A (n.2503-50G>A)
c.2470-50G>A (n.2470-50G>A)
c.2413-50G>A (n.2413-50G>A)
c.2512-50G>A (n.2512-50G>A)
c.2488-50G>A (n.2488-50G>A)
c.2323-50G>A (n.2323-50G>A)
c.2485-50G>A (n.2485-50G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16989821G>ACA18628929ATP13A2c.2530-51C>T (n.2530-51C>T)
c.2398-51C>T (n.2398-51C>T)
c.2515-51C>T (n.2515-51C>T)
n.404-51C>T
c.118-51C>T (n.118-51C>T)
c.2527-51C>T (n.2527-51C>T)
c.2503-51C>T (n.2503-51C>T)
c.2470-51C>T (n.2470-51C>T)
c.2413-51C>T (n.2413-51C>T)
c.2512-51C>T (n.2512-51C>T)
c.2488-51C>T (n.2488-51C>T)
c.2323-51C>T (n.2323-51C>T)
c.2485-51C>T (n.2485-51C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16989821G=CA1144840482ATP13A2c.2530-51C= (n.2530-51C=)
c.2398-51C= (n.2398-51C=)
c.2515-51C= (n.2515-51C=)
n.404-51C=
c.118-51C= (n.118-51C=)
c.2527-51C= (n.2527-51C=)
c.2503-51C= (n.2503-51C=)
c.2470-51C= (n.2470-51C=)
c.2413-51C= (n.2413-51C=)
c.2512-51C= (n.2512-51C=)
c.2488-51C= (n.2488-51C=)
c.2323-51C= (n.2323-51C=)
c.2485-51C= (n.2485-51C=)
1g.16989821G>TCA1156021185ATP13A2c.2530-51C>A (n.2530-51C>A)
c.2398-51C>A (n.2398-51C>A)
c.2515-51C>A (n.2515-51C>A)
n.404-51C>A
c.118-51C>A (n.118-51C>A)
c.2527-51C>A (n.2527-51C>A)
c.2503-51C>A (n.2503-51C>A)
c.2470-51C>A (n.2470-51C>A)
c.2413-51C>A (n.2413-51C>A)
c.2512-51C>A (n.2512-51C>A)
c.2488-51C>A (n.2488-51C>A)
c.2323-51C>A (n.2323-51C>A)
c.2485-51C>A (n.2485-51C>A)
 dbSNP gnomAD v4

Number of alleles fetched