Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16989746_16989748delinsCAACA1156021092ATP13A2c.2552_2554delinsTTG (p.Phe851=)
c.2420_2422delinsTTG (p.Phe807=)
c.2537_2539delinsTTG (p.Phe846=)
n.426_428delinsTTG
n.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.16989747_16989749delinsAAACA1148224178ATP13A2c.2551_2553delinsTTT (p.Phe851=)
c.2419_2421delinsTTT (p.Phe807=)
c.2536_2538delinsTTT (p.Phe846=)
n.425_427delinsTTT
n.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
n.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
n.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
n.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
n.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
n.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
n.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
n.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
n.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=)
1g.16989750G>CCA416094081ATP13A2c.2550C>G (p.Val850=)
c.2418C>G (p.Val806=)
c.2535C>G (p.Val845=)
n.424C>G
n.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=)
1g.16989750G>TCA416094080ATP13A2c.2550C>A (p.Val850=)
c.2418C>A (p.Val806=)
c.2535C>A (p.Val845=)
n.424C>A
n.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.16989751A>CCA338239732ATP13A2c.2549T>G (p.Val850Gly)
c.2417T>G (p.Val806Gly)
c.2534T>G (p.Val845Gly)
n.423T>G
n.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
n.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
n.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
n.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=
n.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
n.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)
dbSNP
1g.16989752C>TCA338239759ATP13A2c.2548G>A (p.Val850Ile)
c.2416G>A (p.Val806Ile)
c.2533G>A (p.Val845Ile)
n.422G>A
n.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)
gnomAD
1g.16989753A>CCA416094085ATP13A2c.2547T>G (p.Thr849=)
c.2415T>G (p.Thr805=)
c.2532T>G (p.Thr844=)
n.421T>G
n.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
n.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
n.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
n.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
n.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
n.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
n.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
n.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
n.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
n.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
1g.16989756G>CCA416094090ATP13A2c.2544C>G (p.Gly848=)
c.2412C>G (p.Gly804=)
c.2529C>G (p.Gly843=)
n.418C>G
n.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=
n.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
n.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
n.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
n.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
n.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
n.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
n.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
n.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)
1g.16989759C>ACA338239822ATP13A2c.2541G>T (p.Gln847His)
c.2409G>T (p.Gln803His)
c.2526G>T (p.Gln842His)
n.415G>T
n.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
n.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
n.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
n.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
n.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)
1g.16989760T>GCA338239828ATP13A2c.2540A>C (p.Gln847Pro)
c.2408A>C (p.Gln803Pro)
c.2525A>C (p.Gln842Pro)
n.414A>C
n.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=
n.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
n.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
n.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
n.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
n.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=)
1g.16989762G>CCA416094099ATP13A2c.2538C>G (p.Val846=)
c.2406C>G (p.Val802=)
c.2523C>G (p.Val841=)
n.412C>G
n.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=)

Number of alleles fetched