Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)

Number of alleles fetched