Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406376C>ACA341949664POGZc.2707G>T (p.Val903Leu)
c.2500G>T (p.Val834Leu)
c.2659G>T (p.Val887Leu)
c.2680G>T (p.Val894Leu)
n.2807G>T
c.2374G>T (p.Val792Leu)
c.2632G>T (p.Val878Leu)
c.2527G>T (p.Val843Leu)
c.859G>T (p.Val287Leu)
c.2473G>T (p.Val825Leu)
c.2551G>T (p.Val851Leu)
c.2302G>T (p.Val768Leu)
c.2533G>T (p.Val845Leu)
c.1459G>T (p.Val487Leu)
n.2514G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406376C=CA2479570634POGZc.2707G= (p.Val903=)
c.2500G= (p.Val834=)
c.2659G= (p.Val887=)
c.2680G= (p.Val894=)
n.2807G=
c.2374G= (p.Val792=)
c.2632G= (p.Val878=)
c.2527G= (p.Val843=)
c.859G= (p.Val287=)
c.2473G= (p.Val825=)
c.2551G= (p.Val851=)
c.2302G= (p.Val768=)
c.2533G= (p.Val845=)
c.1459G= (p.Val487=)
n.2514G=
1g.151406376C>GCA341949666POGZc.2707G>C (p.Val903Leu)
c.2500G>C (p.Val834Leu)
c.2659G>C (p.Val887Leu)
c.2680G>C (p.Val894Leu)
n.2807G>C
c.2374G>C (p.Val792Leu)
c.2632G>C (p.Val878Leu)
c.2527G>C (p.Val843Leu)
c.859G>C (p.Val287Leu)
c.2473G>C (p.Val825Leu)
c.2551G>C (p.Val851Leu)
c.2302G>C (p.Val768Leu)
c.2533G>C (p.Val845Leu)
c.1459G>C (p.Val487Leu)
n.2514G>C
1g.151406376C>TCA341949668POGZc.2707G>A (p.Val903Met)
c.2500G>A (p.Val834Met)
c.2659G>A (p.Val887Met)
c.2680G>A (p.Val894Met)
n.2807G>A
c.2374G>A (p.Val792Met)
c.2632G>A (p.Val878Met)
c.2527G>A (p.Val843Met)
c.859G>A (p.Val287Met)
c.2473G>A (p.Val825Met)
c.2551G>A (p.Val851Met)
c.2302G>A (p.Val768Met)
c.2533G>A (p.Val845Met)
c.1459G>A (p.Val487Met)
n.2514G>A
 dbSNP gnomAD v4
1g.151406377A>CCA420909729POGZc.2706T>G (p.Thr902=)
c.2499T>G (p.Thr833=)
c.2658T>G (p.Thr886=)
c.2679T>G (p.Thr893=)
n.2806T>G
c.2373T>G (p.Thr791=)
c.2631T>G (p.Thr877=)
c.2526T>G (p.Thr842=)
c.858T>G (p.Thr286=)
c.2472T>G (p.Thr824=)
c.2550T>G (p.Thr850=)
c.2301T>G (p.Thr767=)
c.2532T>G (p.Thr844=)
c.1458T>G (p.Thr486=)
n.2513T>G
1g.151406377A>GCA420909732POGZc.2706T>C (p.Thr902=)
c.2499T>C (p.Thr833=)
c.2658T>C (p.Thr886=)
c.2679T>C (p.Thr893=)
n.2806T>C
c.2373T>C (p.Thr791=)
c.2631T>C (p.Thr877=)
c.2526T>C (p.Thr842=)
c.858T>C (p.Thr286=)
c.2472T>C (p.Thr824=)
c.2550T>C (p.Thr850=)
c.2301T>C (p.Thr767=)
c.2532T>C (p.Thr844=)
c.1458T>C (p.Thr486=)
n.2513T>C
 gnomAD v4
1g.151406377A>TCA420909733POGZc.2706T>A (p.Thr902=)
c.2499T>A (p.Thr833=)
c.2658T>A (p.Thr886=)
c.2679T>A (p.Thr893=)
n.2806T>A
c.2373T>A (p.Thr791=)
c.2631T>A (p.Thr877=)
c.2526T>A (p.Thr842=)
c.858T>A (p.Thr286=)
c.2472T>A (p.Thr824=)
c.2550T>A (p.Thr850=)
c.2301T>A (p.Thr767=)
c.2532T>A (p.Thr844=)
c.1458T>A (p.Thr486=)
n.2513T>A
1g.151406378G>ACA341949672POGZc.2705C>T (p.Thr902Ile)
c.2498C>T (p.Thr833Ile)
c.2657C>T (p.Thr886Ile)
c.2678C>T (p.Thr893Ile)
n.2805C>T
c.2372C>T (p.Thr791Ile)
c.2630C>T (p.Thr877Ile)
c.2525C>T (p.Thr842Ile)
c.857C>T (p.Thr286Ile)
c.2471C>T (p.Thr824Ile)
c.2549C>T (p.Thr850Ile)
c.2300C>T (p.Thr767Ile)
c.2531C>T (p.Thr844Ile)
c.1457C>T (p.Thr486Ile)
n.2512C>T
1g.151406378G>CCA341949675POGZc.2705C>G (p.Thr902Ser)
c.2498C>G (p.Thr833Ser)
c.2657C>G (p.Thr886Ser)
c.2678C>G (p.Thr893Ser)
n.2805C>G
c.2372C>G (p.Thr791Ser)
c.2630C>G (p.Thr877Ser)
c.2525C>G (p.Thr842Ser)
c.857C>G (p.Thr286Ser)
c.2471C>G (p.Thr824Ser)
c.2549C>G (p.Thr850Ser)
c.2300C>G (p.Thr767Ser)
c.2531C>G (p.Thr844Ser)
c.1457C>G (p.Thr486Ser)
n.2512C>G
1g.151406378G>TCA341949677POGZc.2705C>A (p.Thr902Asn)
c.2498C>A (p.Thr833Asn)
c.2657C>A (p.Thr886Asn)
c.2678C>A (p.Thr893Asn)
n.2805C>A
c.2372C>A (p.Thr791Asn)
c.2630C>A (p.Thr877Asn)
c.2525C>A (p.Thr842Asn)
c.857C>A (p.Thr286Asn)
c.2471C>A (p.Thr824Asn)
c.2549C>A (p.Thr850Asn)
c.2300C>A (p.Thr767Asn)
c.2531C>A (p.Thr844Asn)
c.1457C>A (p.Thr486Asn)
n.2512C>A
1g.151406379T>ACA341949682POGZc.2704A>T (p.Thr902Ser)
c.2497A>T (p.Thr833Ser)
c.2656A>T (p.Thr886Ser)
c.2677A>T (p.Thr893Ser)
n.2804A>T
c.2371A>T (p.Thr791Ser)
c.2629A>T (p.Thr877Ser)
c.2524A>T (p.Thr842Ser)
c.856A>T (p.Thr286Ser)
c.2470A>T (p.Thr824Ser)
c.2548A>T (p.Thr850Ser)
c.2299A>T (p.Thr767Ser)
c.2530A>T (p.Thr844Ser)
c.1456A>T (p.Thr486Ser)
n.2511A>T
1g.151406379T>CCA341949687POGZc.2704A>G (p.Thr902Ala)
c.2497A>G (p.Thr833Ala)
c.2656A>G (p.Thr886Ala)
c.2677A>G (p.Thr893Ala)
n.2804A>G
c.2371A>G (p.Thr791Ala)
c.2629A>G (p.Thr877Ala)
c.2524A>G (p.Thr842Ala)
c.856A>G (p.Thr286Ala)
c.2470A>G (p.Thr824Ala)
c.2548A>G (p.Thr850Ala)
c.2299A>G (p.Thr767Ala)
c.2530A>G (p.Thr844Ala)
c.1456A>G (p.Thr486Ala)
n.2511A>G
1g.151406379T>GCA341949684POGZc.2704A>C (p.Thr902Pro)
c.2497A>C (p.Thr833Pro)
c.2656A>C (p.Thr886Pro)
c.2677A>C (p.Thr893Pro)
n.2804A>C
c.2371A>C (p.Thr791Pro)
c.2629A>C (p.Thr877Pro)
c.2524A>C (p.Thr842Pro)
c.856A>C (p.Thr286Pro)
c.2470A>C (p.Thr824Pro)
c.2548A>C (p.Thr850Pro)
c.2299A>C (p.Thr767Pro)
c.2530A>C (p.Thr844Pro)
c.1456A>C (p.Thr486Pro)
n.2511A>C
1g.151406379_151406380delinsTGCA2479570635POGZc.2703_2704delinsCA (p.Ala901=)
c.2496_2497delinsCA (p.Ala832=)
c.2655_2656delinsCA (p.Ala885=)
c.2676_2677delinsCA (p.Ala892=)
n.2803_2804delinsCA
c.2370_2371delinsCA (p.Ala790=)
c.2628_2629delinsCA (p.Ala876=)
c.2523_2524delinsCA (p.Ala841=)
c.855_856delinsCA (p.Ala285=)
c.2469_2470delinsCA (p.Ala823=)
c.2547_2548delinsCA (p.Ala849=)
c.2298_2299delinsCA (p.Ala766=)
c.2529_2530delinsCA (p.Ala843=)
c.1455_1456delinsCA (p.Ala485=)
n.2510_2511delinsCA
1g.151406380G>ACA420909738POGZc.2703C>T (p.Ala901=)
c.2496C>T (p.Ala832=)
c.2655C>T (p.Ala885=)
c.2676C>T (p.Ala892=)
n.2803C>T
c.2370C>T (p.Ala790=)
c.2628C>T (p.Ala876=)
c.2523C>T (p.Ala841=)
c.855C>T (p.Ala285=)
c.2469C>T (p.Ala823=)
c.2547C>T (p.Ala849=)
c.2298C>T (p.Ala766=)
c.2529C>T (p.Ala843=)
c.1455C>T (p.Ala485=)
n.2510C>T
 gnomAD v4
1g.151406380G>CCA420909741POGZc.2703C>G (p.Ala901=)
c.2496C>G (p.Ala832=)
c.2655C>G (p.Ala885=)
c.2676C>G (p.Ala892=)
n.2803C>G
c.2370C>G (p.Ala790=)
c.2628C>G (p.Ala876=)
c.2523C>G (p.Ala841=)
c.855C>G (p.Ala285=)
c.2469C>G (p.Ala823=)
c.2547C>G (p.Ala849=)
c.2298C>G (p.Ala766=)
c.2529C>G (p.Ala843=)
c.1455C>G (p.Ala485=)
n.2510C>G
1g.151406380G>TCA420909739POGZc.2703C>A (p.Ala901=)
c.2496C>A (p.Ala832=)
c.2655C>A (p.Ala885=)
c.2676C>A (p.Ala892=)
n.2803C>A
c.2370C>A (p.Ala790=)
c.2628C>A (p.Ala876=)
c.2523C>A (p.Ala841=)
c.855C>A (p.Ala285=)
c.2469C>A (p.Ala823=)
c.2547C>A (p.Ala849=)
c.2298C>A (p.Ala766=)
c.2529C>A (p.Ala843=)
c.1455C>A (p.Ala485=)
n.2510C>A
1g.151406381delCA915941414POGZc.2703del (p.Thr902LeufsTer2)
c.2496del (p.Thr833LeufsTer2)
c.2655del (p.Thr886LeufsTer2)
c.2676del (p.Thr893LeufsTer2)
n.2803del
c.2370del (p.Thr791LeufsTer2)
c.2628del (p.Thr877LeufsTer2)
c.2523del (p.Thr842LeufsTer2)
c.855del (p.Thr286LeufsTer2)
c.2469del (p.Thr824LeufsTer2)
c.2547del (p.Thr850LeufsTer2)
c.2298del (p.Thr767LeufsTer2)
c.2529del (p.Thr844LeufsTer2)
c.1455del (p.Thr486LeufsTer2)
n.2510del
 ClinVar dbSNP gnomAD v4
1g.151406381G>ACA341949693POGZc.2702C>T (p.Ala901Val)
c.2495C>T (p.Ala832Val)
c.2654C>T (p.Ala885Val)
c.2675C>T (p.Ala892Val)
n.2802C>T
c.2369C>T (p.Ala790Val)
c.2627C>T (p.Ala876Val)
c.2522C>T (p.Ala841Val)
c.854C>T (p.Ala285Val)
c.2468C>T (p.Ala823Val)
c.2546C>T (p.Ala849Val)
c.2297C>T (p.Ala766Val)
c.2528C>T (p.Ala843Val)
c.1454C>T (p.Ala485Val)
n.2509C>T
 gnomAD v4
1g.151406381G>CCA341949696POGZc.2702C>G (p.Ala901Gly)
c.2495C>G (p.Ala832Gly)
c.2654C>G (p.Ala885Gly)
c.2675C>G (p.Ala892Gly)
n.2802C>G
c.2369C>G (p.Ala790Gly)
c.2627C>G (p.Ala876Gly)
c.2522C>G (p.Ala841Gly)
c.854C>G (p.Ala285Gly)
c.2468C>G (p.Ala823Gly)
c.2546C>G (p.Ala849Gly)
c.2297C>G (p.Ala766Gly)
c.2528C>G (p.Ala843Gly)
c.1454C>G (p.Ala485Gly)
n.2509C>G
1g.151406381G>TCA341949700POGZc.2702C>A (p.Ala901Asp)
c.2495C>A (p.Ala832Asp)
c.2654C>A (p.Ala885Asp)
c.2675C>A (p.Ala892Asp)
n.2802C>A
c.2369C>A (p.Ala790Asp)
c.2627C>A (p.Ala876Asp)
c.2522C>A (p.Ala841Asp)
c.854C>A (p.Ala285Asp)
c.2468C>A (p.Ala823Asp)
c.2546C>A (p.Ala849Asp)
c.2297C>A (p.Ala766Asp)
c.2528C>A (p.Ala843Asp)
c.1454C>A (p.Ala485Asp)
n.2509C>A
 gnomAD v4
1g.151406382C>ACA341949704POGZc.2701G>T (p.Ala901Ser)
c.2494G>T (p.Ala832Ser)
c.2653G>T (p.Ala885Ser)
c.2674G>T (p.Ala892Ser)
n.2801G>T
c.2368G>T (p.Ala790Ser)
c.2626G>T (p.Ala876Ser)
c.2521G>T (p.Ala841Ser)
c.853G>T (p.Ala285Ser)
c.2467G>T (p.Ala823Ser)
c.2545G>T (p.Ala849Ser)
c.2296G>T (p.Ala766Ser)
c.2527G>T (p.Ala843Ser)
c.1453G>T (p.Ala485Ser)
n.2508G>T
 gnomAD v4
1g.151406382C>GCA341949708POGZc.2701G>C (p.Ala901Pro)
c.2494G>C (p.Ala832Pro)
c.2653G>C (p.Ala885Pro)
c.2674G>C (p.Ala892Pro)
n.2801G>C
c.2368G>C (p.Ala790Pro)
c.2626G>C (p.Ala876Pro)
c.2521G>C (p.Ala841Pro)
c.853G>C (p.Ala285Pro)
c.2467G>C (p.Ala823Pro)
c.2545G>C (p.Ala849Pro)
c.2296G>C (p.Ala766Pro)
c.2527G>C (p.Ala843Pro)
c.1453G>C (p.Ala485Pro)
n.2508G>C
1g.151406382C>TCA341949710POGZc.2701G>A (p.Ala901Thr)
c.2494G>A (p.Ala832Thr)
c.2653G>A (p.Ala885Thr)
c.2674G>A (p.Ala892Thr)
n.2801G>A
c.2368G>A (p.Ala790Thr)
c.2626G>A (p.Ala876Thr)
c.2521G>A (p.Ala841Thr)
c.853G>A (p.Ala285Thr)
c.2467G>A (p.Ala823Thr)
c.2545G>A (p.Ala849Thr)
c.2296G>A (p.Ala766Thr)
c.2527G>A (p.Ala843Thr)
c.1453G>A (p.Ala485Thr)
n.2508G>A
1g.151406383A>CCA420909747POGZc.2700T>G (p.Ala900=)
c.2493T>G (p.Ala831=)
c.2652T>G (p.Ala884=)
c.2673T>G (p.Ala891=)
n.2800T>G
c.2367T>G (p.Ala789=)
c.2625T>G (p.Ala875=)
c.2520T>G (p.Ala840=)
c.852T>G (p.Ala284=)
c.2466T>G (p.Ala822=)
c.2544T>G (p.Ala848=)
c.2295T>G (p.Ala765=)
c.2526T>G (p.Ala842=)
c.1452T>G (p.Ala484=)
n.2507T>G
1g.151406383A>GCA420909749POGZc.2700T>C (p.Ala900=)
c.2493T>C (p.Ala831=)
c.2652T>C (p.Ala884=)
c.2673T>C (p.Ala891=)
n.2800T>C
c.2367T>C (p.Ala789=)
c.2625T>C (p.Ala875=)
c.2520T>C (p.Ala840=)
c.852T>C (p.Ala284=)
c.2466T>C (p.Ala822=)
c.2544T>C (p.Ala848=)
c.2295T>C (p.Ala765=)
c.2526T>C (p.Ala842=)
c.1452T>C (p.Ala484=)
n.2507T>C
1g.151406383A>TCA420909750POGZc.2700T>A (p.Ala900=)
c.2493T>A (p.Ala831=)
c.2652T>A (p.Ala884=)
c.2673T>A (p.Ala891=)
n.2800T>A
c.2367T>A (p.Ala789=)
c.2625T>A (p.Ala875=)
c.2520T>A (p.Ala840=)
c.852T>A (p.Ala284=)
c.2466T>A (p.Ala822=)
c.2544T>A (p.Ala848=)
c.2295T>A (p.Ala765=)
c.2526T>A (p.Ala842=)
c.1452T>A (p.Ala484=)
n.2507T>A
 gnomAD v4
1g.151406384G>ACA1091085POGZc.2699C>T (p.Ala900Val)
c.2492C>T (p.Ala831Val)
c.2651C>T (p.Ala884Val)
c.2672C>T (p.Ala891Val)
n.2799C>T
c.2366C>T (p.Ala789Val)
c.2624C>T (p.Ala875Val)
c.2519C>T (p.Ala840Val)
c.851C>T (p.Ala284Val)
c.2465C>T (p.Ala822Val)
c.2543C>T (p.Ala848Val)
c.2294C>T (p.Ala765Val)
c.2525C>T (p.Ala842Val)
c.1451C>T (p.Ala484Val)
n.2506C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406384G>CCA341949716POGZc.2699C>G (p.Ala900Gly)
c.2492C>G (p.Ala831Gly)
c.2651C>G (p.Ala884Gly)
c.2672C>G (p.Ala891Gly)
n.2799C>G
c.2366C>G (p.Ala789Gly)
c.2624C>G (p.Ala875Gly)
c.2519C>G (p.Ala840Gly)
c.851C>G (p.Ala284Gly)
c.2465C>G (p.Ala822Gly)
c.2543C>G (p.Ala848Gly)
c.2294C>G (p.Ala765Gly)
c.2525C>G (p.Ala842Gly)
c.1451C>G (p.Ala484Gly)
n.2506C>G
1g.151406384G=CA2479570636POGZc.2699C= (p.Ala900=)
c.2492C= (p.Ala831=)
c.2651C= (p.Ala884=)
c.2672C= (p.Ala891=)
n.2799C=
c.2366C= (p.Ala789=)
c.2624C= (p.Ala875=)
c.2519C= (p.Ala840=)
c.851C= (p.Ala284=)
c.2465C= (p.Ala822=)
c.2543C= (p.Ala848=)
c.2294C= (p.Ala765=)
c.2525C= (p.Ala842=)
c.1451C= (p.Ala484=)
n.2506C=
1g.151406384G>TCA341949717POGZc.2699C>A (p.Ala900Asp)
c.2492C>A (p.Ala831Asp)
c.2651C>A (p.Ala884Asp)
c.2672C>A (p.Ala891Asp)
n.2799C>A
c.2366C>A (p.Ala789Asp)
c.2624C>A (p.Ala875Asp)
c.2519C>A (p.Ala840Asp)
c.851C>A (p.Ala284Asp)
c.2465C>A (p.Ala822Asp)
c.2543C>A (p.Ala848Asp)
c.2294C>A (p.Ala765Asp)
c.2525C>A (p.Ala842Asp)
c.1451C>A (p.Ala484Asp)
n.2506C>A
1g.151406385C>ACA341949722POGZc.2698G>T (p.Ala900Ser)
c.2491G>T (p.Ala831Ser)
c.2650G>T (p.Ala884Ser)
c.2671G>T (p.Ala891Ser)
n.2798G>T
c.2365G>T (p.Ala789Ser)
c.2623G>T (p.Ala875Ser)
c.2518G>T (p.Ala840Ser)
c.850G>T (p.Ala284Ser)
c.2464G>T (p.Ala822Ser)
c.2542G>T (p.Ala848Ser)
c.2293G>T (p.Ala765Ser)
c.2524G>T (p.Ala842Ser)
c.1450G>T (p.Ala484Ser)
n.2505G>T
 gnomAD v4
1g.151406385C=CA1148414548POGZc.2698G= (p.Ala900=)
c.2491G= (p.Ala831=)
c.2650G= (p.Ala884=)
c.2671G= (p.Ala891=)
n.2798G=
c.2365G= (p.Ala789=)
c.2623G= (p.Ala875=)
c.2518G= (p.Ala840=)
c.850G= (p.Ala284=)
c.2464G= (p.Ala822=)
c.2542G= (p.Ala848=)
c.2293G= (p.Ala765=)
c.2524G= (p.Ala842=)
c.1450G= (p.Ala484=)
n.2505G=
1g.151406385C>GCA1091086POGZc.2698G>C (p.Ala900Pro)
c.2491G>C (p.Ala831Pro)
c.2650G>C (p.Ala884Pro)
c.2671G>C (p.Ala891Pro)
n.2798G>C
c.2365G>C (p.Ala789Pro)
c.2623G>C (p.Ala875Pro)
c.2518G>C (p.Ala840Pro)
c.850G>C (p.Ala284Pro)
c.2464G>C (p.Ala822Pro)
c.2542G>C (p.Ala848Pro)
c.2293G>C (p.Ala765Pro)
c.2524G>C (p.Ala842Pro)
c.1450G>C (p.Ala484Pro)
n.2505G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406385C>TCA341949725POGZc.2698G>A (p.Ala900Thr)
c.2491G>A (p.Ala831Thr)
c.2650G>A (p.Ala884Thr)
c.2671G>A (p.Ala891Thr)
n.2798G>A
c.2365G>A (p.Ala789Thr)
c.2623G>A (p.Ala875Thr)
c.2518G>A (p.Ala840Thr)
c.850G>A (p.Ala284Thr)
c.2464G>A (p.Ala822Thr)
c.2542G>A (p.Ala848Thr)
c.2293G>A (p.Ala765Thr)
c.2524G>A (p.Ala842Thr)
c.1450G>A (p.Ala484Thr)
n.2505G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151406386T>ACA341949730POGZc.2697A>T (p.Lys899Asn)
c.2490A>T (p.Lys830Asn)
c.2649A>T (p.Lys883Asn)
c.2670A>T (p.Lys890Asn)
n.2797A>T
c.2364A>T (p.Lys788Asn)
c.2622A>T (p.Lys874Asn)
c.2517A>T (p.Lys839Asn)
c.849A>T (p.Lys283Asn)
c.2463A>T (p.Lys821Asn)
c.2541A>T (p.Lys847Asn)
c.2292A>T (p.Lys764Asn)
c.2523A>T (p.Lys841Asn)
c.1449A>T (p.Lys483Asn)
n.2504A>T
1g.151406386T>CCA420909759POGZc.2697A>G (p.Lys899=)
c.2490A>G (p.Lys830=)
c.2649A>G (p.Lys883=)
c.2670A>G (p.Lys890=)
n.2797A>G
c.2364A>G (p.Lys788=)
c.2622A>G (p.Lys874=)
c.2517A>G (p.Lys839=)
c.849A>G (p.Lys283=)
c.2463A>G (p.Lys821=)
c.2541A>G (p.Lys847=)
c.2292A>G (p.Lys764=)
c.2523A>G (p.Lys841=)
c.1449A>G (p.Lys483=)
n.2504A>G
1g.151406386T>GCA341949733POGZc.2697A>C (p.Lys899Asn)
c.2490A>C (p.Lys830Asn)
c.2649A>C (p.Lys883Asn)
c.2670A>C (p.Lys890Asn)
n.2797A>C
c.2364A>C (p.Lys788Asn)
c.2622A>C (p.Lys874Asn)
c.2517A>C (p.Lys839Asn)
c.849A>C (p.Lys283Asn)
c.2463A>C (p.Lys821Asn)
c.2541A>C (p.Lys847Asn)
c.2292A>C (p.Lys764Asn)
c.2523A>C (p.Lys841Asn)
c.1449A>C (p.Lys483Asn)
n.2504A>C
1g.151406387T>ACA341949737POGZc.2696A>T (p.Lys899Ile)
c.2489A>T (p.Lys830Ile)
c.2648A>T (p.Lys883Ile)
c.2669A>T (p.Lys890Ile)
n.2796A>T
c.2363A>T (p.Lys788Ile)
c.2621A>T (p.Lys874Ile)
c.2516A>T (p.Lys839Ile)
c.848A>T (p.Lys283Ile)
c.2462A>T (p.Lys821Ile)
c.2540A>T (p.Lys847Ile)
c.2291A>T (p.Lys764Ile)
c.2522A>T (p.Lys841Ile)
c.1448A>T (p.Lys483Ile)
n.2503A>T
1g.151406387T>CCA1091087POGZc.2696A>G (p.Lys899Arg)
c.2489A>G (p.Lys830Arg)
c.2648A>G (p.Lys883Arg)
c.2669A>G (p.Lys890Arg)
n.2796A>G
c.2363A>G (p.Lys788Arg)
c.2621A>G (p.Lys874Arg)
c.2516A>G (p.Lys839Arg)
c.848A>G (p.Lys283Arg)
c.2462A>G (p.Lys821Arg)
c.2540A>G (p.Lys847Arg)
c.2291A>G (p.Lys764Arg)
c.2522A>G (p.Lys841Arg)
c.1448A>G (p.Lys483Arg)
n.2503A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406387T>GCA341949740POGZc.2696A>C (p.Lys899Thr)
c.2489A>C (p.Lys830Thr)
c.2648A>C (p.Lys883Thr)
c.2669A>C (p.Lys890Thr)
n.2796A>C
c.2363A>C (p.Lys788Thr)
c.2621A>C (p.Lys874Thr)
c.2516A>C (p.Lys839Thr)
c.848A>C (p.Lys283Thr)
c.2462A>C (p.Lys821Thr)
c.2540A>C (p.Lys847Thr)
c.2291A>C (p.Lys764Thr)
c.2522A>C (p.Lys841Thr)
c.1448A>C (p.Lys483Thr)
n.2503A>C
1g.151406387T=CA2479570637POGZc.2696A= (p.Lys899=)
c.2489A= (p.Lys830=)
c.2648A= (p.Lys883=)
c.2669A= (p.Lys890=)
n.2796A=
c.2363A= (p.Lys788=)
c.2621A= (p.Lys874=)
c.2516A= (p.Lys839=)
c.848A= (p.Lys283=)
c.2462A= (p.Lys821=)
c.2540A= (p.Lys847=)
c.2291A= (p.Lys764=)
c.2522A= (p.Lys841=)
c.1448A= (p.Lys483=)
n.2503A=
1g.151406387_151406389delinsTTGCA2479570638POGZc.2694_2696delinsCAA (p.Asn898=)
c.2487_2489delinsCAA (p.Asn829=)
c.2646_2648delinsCAA (p.Asn882=)
c.2667_2669delinsCAA (p.Asn889=)
n.2794_2796delinsCAA
c.2361_2363delinsCAA (p.Asn787=)
c.2619_2621delinsCAA (p.Asn873=)
c.2514_2516delinsCAA (p.Asn838=)
c.846_848delinsCAA (p.Asn282=)
c.2460_2462delinsCAA (p.Asn820=)
c.2538_2540delinsCAA (p.Asn846=)
c.2289_2291delinsCAA (p.Asn763=)
c.2520_2522delinsCAA (p.Asn840=)
c.1446_1448delinsCAA (p.Asn482=)
n.2501_2503delinsCAA
1g.151406388T>ACA341949746POGZc.2695A>T (p.Lys899Ter)
c.2488A>T (p.Lys830Ter)
c.2647A>T (p.Lys883Ter)
c.2668A>T (p.Lys890Ter)
n.2795A>T
c.2362A>T (p.Lys788Ter)
c.2620A>T (p.Lys874Ter)
c.2515A>T (p.Lys839Ter)
c.847A>T (p.Lys283Ter)
c.2461A>T (p.Lys821Ter)
c.2539A>T (p.Lys847Ter)
c.2290A>T (p.Lys764Ter)
c.2521A>T (p.Lys841Ter)
c.1447A>T (p.Lys483Ter)
n.2502A>T
1g.151406388T>CCA341949748POGZc.2695A>G (p.Lys899Glu)
c.2488A>G (p.Lys830Glu)
c.2647A>G (p.Lys883Glu)
c.2668A>G (p.Lys890Glu)
n.2795A>G
c.2362A>G (p.Lys788Glu)
c.2620A>G (p.Lys874Glu)
c.2515A>G (p.Lys839Glu)
c.847A>G (p.Lys283Glu)
c.2461A>G (p.Lys821Glu)
c.2539A>G (p.Lys847Glu)
c.2290A>G (p.Lys764Glu)
c.2521A>G (p.Lys841Glu)
c.1447A>G (p.Lys483Glu)
n.2502A>G
 gnomAD v4
1g.151406388T>GCA341949751POGZc.2695A>C (p.Lys899Gln)
c.2488A>C (p.Lys830Gln)
c.2647A>C (p.Lys883Gln)
c.2668A>C (p.Lys890Gln)
n.2795A>C
c.2362A>C (p.Lys788Gln)
c.2620A>C (p.Lys874Gln)
c.2515A>C (p.Lys839Gln)
c.847A>C (p.Lys283Gln)
c.2461A>C (p.Lys821Gln)
c.2539A>C (p.Lys847Gln)
c.2290A>C (p.Lys764Gln)
c.2521A>C (p.Lys841Gln)
c.1447A>C (p.Lys483Gln)
n.2502A>C
1g.151406389_151406390delCA658821141POGZc.2694_2695del (p.Asn898LysfsTer14)
c.2487_2488del (p.Asn829LysfsTer14)
c.2646_2647del (p.Asn882LysfsTer14)
c.2667_2668del (p.Asn889LysfsTer14)
n.2794_2795del
c.2361_2362del (p.Asn787LysfsTer14)
c.2619_2620del (p.Asn873LysfsTer14)
c.2514_2515del (p.Asn838LysfsTer14)
c.846_847del (p.Asn282LysfsTer14)
c.2460_2461del (p.Asn820LysfsTer14)
c.2538_2539del (p.Asn846LysfsTer14)
c.2289_2290del (p.Asn763LysfsTer14)
c.2520_2521del (p.Asn840LysfsTer14)
c.1446_1447del (p.Asn482LysfsTer14)
n.2501_2502del
 ClinVar dbSNP
1g.151406389G>ACA420909767POGZc.2694C>T (p.Asn898=)
c.2487C>T (p.Asn829=)
c.2646C>T (p.Asn882=)
c.2667C>T (p.Asn889=)
n.2794C>T
c.2361C>T (p.Asn787=)
c.2619C>T (p.Asn873=)
c.2514C>T (p.Asn838=)
c.846C>T (p.Asn282=)
c.2460C>T (p.Asn820=)
c.2538C>T (p.Asn846=)
c.2289C>T (p.Asn763=)
n.2474C>T
c.2520C>T (p.Asn840=)
c.1446C>T (p.Asn482=)
n.2501C>T
1g.151406389G>CCA341949759POGZc.2694C>G (p.Asn898Lys)
c.2487C>G (p.Asn829Lys)
c.2646C>G (p.Asn882Lys)
c.2667C>G (p.Asn889Lys)
n.2794C>G
c.2361C>G (p.Asn787Lys)
c.2619C>G (p.Asn873Lys)
c.2514C>G (p.Asn838Lys)
c.846C>G (p.Asn282Lys)
c.2460C>G (p.Asn820Lys)
c.2538C>G (p.Asn846Lys)
c.2289C>G (p.Asn763Lys)
n.2474C>G
c.2520C>G (p.Asn840Lys)
c.1446C>G (p.Asn482Lys)
n.2501C>G
1g.151406389G>TCA341949761POGZc.2694C>A (p.Asn898Lys)
c.2487C>A (p.Asn829Lys)
c.2646C>A (p.Asn882Lys)
c.2667C>A (p.Asn889Lys)
n.2794C>A
c.2361C>A (p.Asn787Lys)
c.2619C>A (p.Asn873Lys)
c.2514C>A (p.Asn838Lys)
c.846C>A (p.Asn282Lys)
c.2460C>A (p.Asn820Lys)
c.2538C>A (p.Asn846Lys)
c.2289C>A (p.Asn763Lys)
n.2474C>A
c.2520C>A (p.Asn840Lys)
c.1446C>A (p.Asn482Lys)
n.2501C>A
1g.151406390T>ACA341949774POGZc.2693A>T (p.Asn898Ile)
c.2486A>T (p.Asn829Ile)
c.2645A>T (p.Asn882Ile)
c.2666A>T (p.Asn889Ile)
n.2793A>T
c.2360A>T (p.Asn787Ile)
c.2618A>T (p.Asn873Ile)
c.2513A>T (p.Asn838Ile)
c.845A>T (p.Asn282Ile)
c.2459A>T (p.Asn820Ile)
c.2537A>T (p.Asn846Ile)
c.2288A>T (p.Asn763Ile)
n.2473A>T
c.2519A>T (p.Asn840Ile)
c.1445A>T (p.Asn482Ile)
n.2500A>T
1g.151406390T>CCA341949771POGZc.2693A>G (p.Asn898Ser)
c.2486A>G (p.Asn829Ser)
c.2645A>G (p.Asn882Ser)
c.2666A>G (p.Asn889Ser)
n.2793A>G
c.2360A>G (p.Asn787Ser)
c.2618A>G (p.Asn873Ser)
c.2513A>G (p.Asn838Ser)
c.845A>G (p.Asn282Ser)
c.2459A>G (p.Asn820Ser)
c.2537A>G (p.Asn846Ser)
c.2288A>G (p.Asn763Ser)
n.2473A>G
c.2519A>G (p.Asn840Ser)
c.1445A>G (p.Asn482Ser)
n.2500A>G
1g.151406390T>GCA341949768POGZc.2693A>C (p.Asn898Thr)
c.2486A>C (p.Asn829Thr)
c.2645A>C (p.Asn882Thr)
c.2666A>C (p.Asn889Thr)
n.2793A>C
c.2360A>C (p.Asn787Thr)
c.2618A>C (p.Asn873Thr)
c.2513A>C (p.Asn838Thr)
c.845A>C (p.Asn282Thr)
c.2459A>C (p.Asn820Thr)
c.2537A>C (p.Asn846Thr)
c.2288A>C (p.Asn763Thr)
n.2473A>C
c.2519A>C (p.Asn840Thr)
c.1445A>C (p.Asn482Thr)
n.2500A>C
1g.151406391T>ACA341949779POGZc.2692A>T (p.Asn898Tyr)
c.2485A>T (p.Asn829Tyr)
c.2644A>T (p.Asn882Tyr)
c.2665A>T (p.Asn889Tyr)
n.2792A>T
c.2359A>T (p.Asn787Tyr)
c.2617A>T (p.Asn873Tyr)
c.2512A>T (p.Asn838Tyr)
c.844A>T (p.Asn282Tyr)
c.2458A>T (p.Asn820Tyr)
c.2536A>T (p.Asn846Tyr)
c.2287A>T (p.Asn763Tyr)
n.2472A>T
c.2518A>T (p.Asn840Tyr)
c.1444A>T (p.Asn482Tyr)
n.2499A>T
1g.151406391T>CCA341949781POGZc.2692A>G (p.Asn898Asp)
c.2485A>G (p.Asn829Asp)
c.2644A>G (p.Asn882Asp)
c.2665A>G (p.Asn889Asp)
n.2792A>G
c.2359A>G (p.Asn787Asp)
c.2617A>G (p.Asn873Asp)
c.2512A>G (p.Asn838Asp)
c.844A>G (p.Asn282Asp)
c.2458A>G (p.Asn820Asp)
c.2536A>G (p.Asn846Asp)
c.2287A>G (p.Asn763Asp)
n.2472A>G
c.2518A>G (p.Asn840Asp)
c.1444A>G (p.Asn482Asp)
n.2499A>G
1g.151406391T>GCA341949782POGZc.2692A>C (p.Asn898His)
c.2485A>C (p.Asn829His)
c.2644A>C (p.Asn882His)
c.2665A>C (p.Asn889His)
n.2792A>C
c.2359A>C (p.Asn787His)
c.2617A>C (p.Asn873His)
c.2512A>C (p.Asn838His)
c.844A>C (p.Asn282His)
c.2458A>C (p.Asn820His)
c.2536A>C (p.Asn846His)
c.2287A>C (p.Asn763His)
n.2472A>C
c.2518A>C (p.Asn840His)
c.1444A>C (p.Asn482His)
n.2499A>C
1g.151406392A=CA2479570639POGZc.2691T= (p.Thr897=)
c.2484T= (p.Thr828=)
c.2643T= (p.Thr881=)
c.2664T= (p.Thr888=)
n.2791T=
c.2358T= (p.Thr786=)
c.2616T= (p.Thr872=)
c.2511T= (p.Thr837=)
c.843T= (p.Thr281=)
c.2457T= (p.Thr819=)
c.2535T= (p.Thr845=)
c.2286T= (p.Thr762=)
n.2471T=
c.2517T= (p.Thr839=)
c.1443T= (p.Thr481=)
n.2498T=
1g.151406392A>CCA420909775POGZc.2691T>G (p.Thr897=)
c.2484T>G (p.Thr828=)
c.2643T>G (p.Thr881=)
c.2664T>G (p.Thr888=)
n.2791T>G
c.2358T>G (p.Thr786=)
c.2616T>G (p.Thr872=)
c.2511T>G (p.Thr837=)
c.843T>G (p.Thr281=)
c.2457T>G (p.Thr819=)
c.2535T>G (p.Thr845=)
c.2286T>G (p.Thr762=)
n.2471T>G
c.2517T>G (p.Thr839=)
c.1443T>G (p.Thr481=)
n.2498T>G
1g.151406392A>GCA420909776POGZc.2691T>C (p.Thr897=)
c.2484T>C (p.Thr828=)
c.2643T>C (p.Thr881=)
c.2664T>C (p.Thr888=)
n.2791T>C
c.2358T>C (p.Thr786=)
c.2616T>C (p.Thr872=)
c.2511T>C (p.Thr837=)
c.843T>C (p.Thr281=)
c.2457T>C (p.Thr819=)
c.2535T>C (p.Thr845=)
c.2286T>C (p.Thr762=)
n.2471T>C
c.2517T>C (p.Thr839=)
c.1443T>C (p.Thr481=)
n.2498T>C
 gnomAD v4
1g.151406392A>TCA420909777POGZc.2691T>A (p.Thr897=)
c.2484T>A (p.Thr828=)
c.2643T>A (p.Thr881=)
c.2664T>A (p.Thr888=)
n.2791T>A
c.2358T>A (p.Thr786=)
c.2616T>A (p.Thr872=)
c.2511T>A (p.Thr837=)
c.843T>A (p.Thr281=)
c.2457T>A (p.Thr819=)
c.2535T>A (p.Thr845=)
c.2286T>A (p.Thr762=)
n.2471T>A
c.2517T>A (p.Thr839=)
c.1443T>A (p.Thr481=)
n.2498T>A
 dbSNP
1g.151406393G>ACA341949788POGZc.2690C>T (p.Thr897Ile)
c.2483C>T (p.Thr828Ile)
c.2642C>T (p.Thr881Ile)
c.2663C>T (p.Thr888Ile)
n.2790C>T
c.2357C>T (p.Thr786Ile)
c.2615C>T (p.Thr872Ile)
c.2510C>T (p.Thr837Ile)
c.842C>T (p.Thr281Ile)
c.2456C>T (p.Thr819Ile)
c.2534C>T (p.Thr845Ile)
c.2285C>T (p.Thr762Ile)
n.2470C>T
c.2516C>T (p.Thr839Ile)
c.1442C>T (p.Thr481Ile)
n.2497C>T
 gnomAD v4
1g.151406393G>CCA341949790POGZc.2690C>G (p.Thr897Ser)
c.2483C>G (p.Thr828Ser)
c.2642C>G (p.Thr881Ser)
c.2663C>G (p.Thr888Ser)
n.2790C>G
c.2357C>G (p.Thr786Ser)
c.2615C>G (p.Thr872Ser)
c.2510C>G (p.Thr837Ser)
c.842C>G (p.Thr281Ser)
c.2456C>G (p.Thr819Ser)
c.2534C>G (p.Thr845Ser)
c.2285C>G (p.Thr762Ser)
n.2470C>G
c.2516C>G (p.Thr839Ser)
c.1442C>G (p.Thr481Ser)
n.2497C>G
1g.151406393G>TCA341949794POGZc.2690C>A (p.Thr897Asn)
c.2483C>A (p.Thr828Asn)
c.2642C>A (p.Thr881Asn)
c.2663C>A (p.Thr888Asn)
n.2790C>A
c.2357C>A (p.Thr786Asn)
c.2615C>A (p.Thr872Asn)
c.2510C>A (p.Thr837Asn)
c.842C>A (p.Thr281Asn)
c.2456C>A (p.Thr819Asn)
c.2534C>A (p.Thr845Asn)
c.2285C>A (p.Thr762Asn)
n.2470C>A
c.2516C>A (p.Thr839Asn)
c.1442C>A (p.Thr481Asn)
n.2497C>A
1g.151406393_151406394delinsGTCA2479570640POGZc.2689_2690delinsAC (p.Thr897=)
c.2482_2483delinsAC (p.Thr828=)
c.2641_2642delinsAC (p.Thr881=)
c.2662_2663delinsAC (p.Thr888=)
n.2789_2790delinsAC
c.2356_2357delinsAC (p.Thr786=)
c.2614_2615delinsAC (p.Thr872=)
c.2509_2510delinsAC (p.Thr837=)
c.841_842delinsAC (p.Thr281=)
c.2455_2456delinsAC (p.Thr819=)
c.2533_2534delinsAC (p.Thr845=)
c.2284_2285delinsAC (p.Thr762=)
n.2469_2470delinsAC
c.2515_2516delinsAC (p.Thr839=)
c.1441_1442delinsAC (p.Thr481=)
n.2496_2497delinsAC
1g.151406394delCA319615POGZc.2689del (p.Thr897LeufsTer7)
c.2482del (p.Thr828LeufsTer7)
c.2641del (p.Thr881LeufsTer7)
c.2662del (p.Thr888LeufsTer7)
n.2789del
c.2356del (p.Thr786LeufsTer7)
c.2614del (p.Thr872LeufsTer7)
c.2509del (p.Thr837LeufsTer7)
c.841del (p.Thr281LeufsTer7)
c.2455del (p.Thr819LeufsTer7)
c.2533del (p.Thr845LeufsTer7)
c.2284del (p.Thr762LeufsTer7)
n.2469del
c.2515del (p.Thr839LeufsTer7)
c.1441del (p.Thr481LeufsTer7)
n.2496del
 ClinVar dbSNP
1g.151406394T>ACA341949807POGZc.2689A>T (p.Thr897Ser)
c.2482A>T (p.Thr828Ser)
c.2641A>T (p.Thr881Ser)
c.2662A>T (p.Thr888Ser)
n.2789A>T
c.2356A>T (p.Thr786Ser)
c.2614A>T (p.Thr872Ser)
c.2509A>T (p.Thr837Ser)
c.841A>T (p.Thr281Ser)
c.2455A>T (p.Thr819Ser)
c.2533A>T (p.Thr845Ser)
c.2284A>T (p.Thr762Ser)
n.2469A>T
c.2515A>T (p.Thr839Ser)
c.1441A>T (p.Thr481Ser)
n.2496A>T
1g.151406394T>CCA341949800POGZc.2689A>G (p.Thr897Ala)
c.2482A>G (p.Thr828Ala)
c.2641A>G (p.Thr881Ala)
c.2662A>G (p.Thr888Ala)
n.2789A>G
c.2356A>G (p.Thr786Ala)
c.2614A>G (p.Thr872Ala)
c.2509A>G (p.Thr837Ala)
c.841A>G (p.Thr281Ala)
c.2455A>G (p.Thr819Ala)
c.2533A>G (p.Thr845Ala)
c.2284A>G (p.Thr762Ala)
n.2469A>G
c.2515A>G (p.Thr839Ala)
c.1441A>G (p.Thr481Ala)
n.2496A>G
 dbSNP gnomAD v4
1g.151406394T>GCA341949803POGZc.2689A>C (p.Thr897Pro)
c.2482A>C (p.Thr828Pro)
c.2641A>C (p.Thr881Pro)
c.2662A>C (p.Thr888Pro)
n.2789A>C
c.2356A>C (p.Thr786Pro)
c.2614A>C (p.Thr872Pro)
c.2509A>C (p.Thr837Pro)
c.841A>C (p.Thr281Pro)
c.2455A>C (p.Thr819Pro)
c.2533A>C (p.Thr845Pro)
c.2284A>C (p.Thr762Pro)
n.2469A>C
c.2515A>C (p.Thr839Pro)
c.1441A>C (p.Thr481Pro)
n.2496A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406394T=CA2479570641POGZc.2689A= (p.Thr897=)
c.2482A= (p.Thr828=)
c.2641A= (p.Thr881=)
c.2662A= (p.Thr888=)
n.2789A=
c.2356A= (p.Thr786=)
c.2614A= (p.Thr872=)
c.2509A= (p.Thr837=)
c.841A= (p.Thr281=)
c.2455A= (p.Thr819=)
c.2533A= (p.Thr845=)
c.2284A= (p.Thr762=)
n.2469A=
c.2515A= (p.Thr839=)
c.1441A= (p.Thr481=)
n.2496A=
1g.151406395G>ACA420909782POGZc.2688C>T (p.Pro896=)
c.2481C>T (p.Pro827=)
c.2640C>T (p.Pro880=)
c.2661C>T (p.Pro887=)
n.2788C>T
c.2355C>T (p.Pro785=)
c.2613C>T (p.Pro871=)
c.2508C>T (p.Pro836=)
c.840C>T (p.Pro280=)
c.2454C>T (p.Pro818=)
c.2532C>T (p.Pro844=)
c.2283C>T (p.Pro761=)
n.2468C>T
c.2514C>T (p.Pro838=)
c.1440C>T (p.Pro480=)
n.2495C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406395G>CCA420909784POGZc.2688C>G (p.Pro896=)
c.2481C>G (p.Pro827=)
c.2640C>G (p.Pro880=)
c.2661C>G (p.Pro887=)
n.2788C>G
c.2355C>G (p.Pro785=)
c.2613C>G (p.Pro871=)
c.2508C>G (p.Pro836=)
c.840C>G (p.Pro280=)
c.2454C>G (p.Pro818=)
c.2532C>G (p.Pro844=)
c.2283C>G (p.Pro761=)
n.2468C>G
c.2514C>G (p.Pro838=)
c.1440C>G (p.Pro480=)
n.2495C>G
1g.151406395G=CA2479570642POGZc.2688C= (p.Pro896=)
c.2481C= (p.Pro827=)
c.2640C= (p.Pro880=)
c.2661C= (p.Pro887=)
n.2788C=
c.2355C= (p.Pro785=)
c.2613C= (p.Pro871=)
c.2508C= (p.Pro836=)
c.840C= (p.Pro280=)
c.2454C= (p.Pro818=)
c.2532C= (p.Pro844=)
c.2283C= (p.Pro761=)
n.2468C=
c.2514C= (p.Pro838=)
c.1440C= (p.Pro480=)
n.2495C=
1g.151406395G>TCA420909790POGZc.2688C>A (p.Pro896=)
c.2481C>A (p.Pro827=)
c.2640C>A (p.Pro880=)
c.2661C>A (p.Pro887=)
n.2788C>A
c.2355C>A (p.Pro785=)
c.2613C>A (p.Pro871=)
c.2508C>A (p.Pro836=)
c.840C>A (p.Pro280=)
c.2454C>A (p.Pro818=)
c.2532C>A (p.Pro844=)
c.2283C>A (p.Pro761=)
n.2468C>A
c.2514C>A (p.Pro838=)
c.1440C>A (p.Pro480=)
n.2495C>A
1g.151406396G>ACA341949812POGZc.2687C>T (p.Pro896Leu)
c.2480C>T (p.Pro827Leu)
c.2639C>T (p.Pro880Leu)
c.2660C>T (p.Pro887Leu)
n.2787C>T
c.2354C>T (p.Pro785Leu)
c.2612C>T (p.Pro871Leu)
c.2507C>T (p.Pro836Leu)
c.839C>T (p.Pro280Leu)
c.2453C>T (p.Pro818Leu)
c.2531C>T (p.Pro844Leu)
c.2282C>T (p.Pro761Leu)
n.2467C>T
c.2513C>T (p.Pro838Leu)
c.1439C>T (p.Pro480Leu)
n.2494C>T
1g.151406396G>CCA341949815POGZc.2687C>G (p.Pro896Arg)
c.2480C>G (p.Pro827Arg)
c.2639C>G (p.Pro880Arg)
c.2660C>G (p.Pro887Arg)
n.2787C>G
c.2354C>G (p.Pro785Arg)
c.2612C>G (p.Pro871Arg)
c.2507C>G (p.Pro836Arg)
c.839C>G (p.Pro280Arg)
c.2453C>G (p.Pro818Arg)
c.2531C>G (p.Pro844Arg)
c.2282C>G (p.Pro761Arg)
n.2467C>G
c.2513C>G (p.Pro838Arg)
c.1439C>G (p.Pro480Arg)
n.2494C>G
1g.151406396G>TCA341949818POGZc.2687C>A (p.Pro896His)
c.2480C>A (p.Pro827His)
c.2639C>A (p.Pro880His)
c.2660C>A (p.Pro887His)
n.2787C>A
c.2354C>A (p.Pro785His)
c.2612C>A (p.Pro871His)
c.2507C>A (p.Pro836His)
c.839C>A (p.Pro280His)
c.2453C>A (p.Pro818His)
c.2531C>A (p.Pro844His)
c.2282C>A (p.Pro761His)
n.2467C>A
c.2513C>A (p.Pro838His)
c.1439C>A (p.Pro480His)
n.2494C>A
1g.151406397G>ACA341949823POGZc.2686C>T (p.Pro896Ser)
c.2479C>T (p.Pro827Ser)
c.2638C>T (p.Pro880Ser)
c.2659C>T (p.Pro887Ser)
n.2786C>T
c.2353C>T (p.Pro785Ser)
c.2611C>T (p.Pro871Ser)
c.2506C>T (p.Pro836Ser)
c.838C>T (p.Pro280Ser)
c.2452C>T (p.Pro818Ser)
c.2530C>T (p.Pro844Ser)
c.2281C>T (p.Pro761Ser)
n.2466C>T
c.2512C>T (p.Pro838Ser)
c.1438C>T (p.Pro480Ser)
n.2493C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406397G>CCA341949825POGZc.2686C>G (p.Pro896Ala)
c.2479C>G (p.Pro827Ala)
c.2638C>G (p.Pro880Ala)
c.2659C>G (p.Pro887Ala)
n.2786C>G
c.2353C>G (p.Pro785Ala)
c.2611C>G (p.Pro871Ala)
c.2506C>G (p.Pro836Ala)
c.838C>G (p.Pro280Ala)
c.2452C>G (p.Pro818Ala)
c.2530C>G (p.Pro844Ala)
c.2281C>G (p.Pro761Ala)
n.2466C>G
c.2512C>G (p.Pro838Ala)
c.1438C>G (p.Pro480Ala)
n.2493C>G
1g.151406397G=CA2479570643POGZc.2686C= (p.Pro896=)
c.2479C= (p.Pro827=)
c.2638C= (p.Pro880=)
c.2659C= (p.Pro887=)
n.2786C=
c.2353C= (p.Pro785=)
c.2611C= (p.Pro871=)
c.2506C= (p.Pro836=)
c.838C= (p.Pro280=)
c.2452C= (p.Pro818=)
c.2530C= (p.Pro844=)
c.2281C= (p.Pro761=)
n.2466C=
c.2512C= (p.Pro838=)
c.1438C= (p.Pro480=)
n.2493C=
1g.151406397G>TCA341949828POGZc.2686C>A (p.Pro896Thr)
c.2479C>A (p.Pro827Thr)
c.2638C>A (p.Pro880Thr)
c.2659C>A (p.Pro887Thr)
n.2786C>A
c.2353C>A (p.Pro785Thr)
c.2611C>A (p.Pro871Thr)
c.2506C>A (p.Pro836Thr)
c.838C>A (p.Pro280Thr)
c.2452C>A (p.Pro818Thr)
c.2530C>A (p.Pro844Thr)
c.2281C>A (p.Pro761Thr)
n.2466C>A
c.2512C>A (p.Pro838Thr)
c.1438C>A (p.Pro480Thr)
n.2493C>A
1g.151406404_151406407delCA2580611486POGZc.2683_2686del (p.Phe895ProfsTer8)
c.2476_2479del (p.Phe826ProfsTer8)
c.2635_2638del (p.Phe879ProfsTer8)
c.2656_2659del (p.Phe886ProfsTer8)
n.2783_2786del
c.2350_2353del (p.Phe784ProfsTer8)
c.2608_2611del (p.Phe870ProfsTer8)
c.2503_2506del (p.Phe835ProfsTer8)
c.835_838del (p.Phe279ProfsTer8)
c.2449_2452del (p.Phe817ProfsTer8)
c.2527_2530del (p.Phe843ProfsTer8)
c.2278_2281del (p.Phe760ProfsTer8)
n.2463_2466del
c.2509_2512del (p.Phe837ProfsTer8)
c.1435_1438del (p.Phe479ProfsTer8)
n.2490_2493del
 ClinVar dbSNP
1g.151406398G>ACA420909792POGZc.2685C>T (p.Phe895=)
c.2478C>T (p.Phe826=)
c.2637C>T (p.Phe879=)
c.2658C>T (p.Phe886=)
n.2785C>T
c.2352C>T (p.Phe784=)
c.2610C>T (p.Phe870=)
c.2505C>T (p.Phe835=)
c.837C>T (p.Phe279=)
c.2451C>T (p.Phe817=)
c.2529C>T (p.Phe843=)
c.2280C>T (p.Phe760=)
n.2465C>T
c.2511C>T (p.Phe837=)
c.1437C>T (p.Phe479=)
n.2492C>T
 gnomAD v4
1g.151406398G>CCA341949832POGZc.2685C>G (p.Phe895Leu)
c.2478C>G (p.Phe826Leu)
c.2637C>G (p.Phe879Leu)
c.2658C>G (p.Phe886Leu)
n.2785C>G
c.2352C>G (p.Phe784Leu)
c.2610C>G (p.Phe870Leu)
c.2505C>G (p.Phe835Leu)
c.837C>G (p.Phe279Leu)
c.2451C>G (p.Phe817Leu)
c.2529C>G (p.Phe843Leu)
c.2280C>G (p.Phe760Leu)
n.2465C>G
c.2511C>G (p.Phe837Leu)
c.1437C>G (p.Phe479Leu)
n.2492C>G
1g.151406398G=CA2479570644POGZc.2685C= (p.Phe895=)
c.2478C= (p.Phe826=)
c.2637C= (p.Phe879=)
c.2658C= (p.Phe886=)
n.2785C=
c.2352C= (p.Phe784=)
c.2610C= (p.Phe870=)
c.2505C= (p.Phe835=)
c.837C= (p.Phe279=)
c.2451C= (p.Phe817=)
c.2529C= (p.Phe843=)
c.2280C= (p.Phe760=)
n.2465C=
c.2511C= (p.Phe837=)
c.1437C= (p.Phe479=)
n.2492C=
1g.151406398G>TCA29569487POGZc.2685C>A (p.Phe895Leu)
c.2478C>A (p.Phe826Leu)
c.2637C>A (p.Phe879Leu)
c.2658C>A (p.Phe886Leu)
n.2785C>A
c.2352C>A (p.Phe784Leu)
c.2610C>A (p.Phe870Leu)
c.2505C>A (p.Phe835Leu)
c.837C>A (p.Phe279Leu)
c.2451C>A (p.Phe817Leu)
c.2529C>A (p.Phe843Leu)
c.2280C>A (p.Phe760Leu)
n.2465C>A
c.2511C>A (p.Phe837Leu)
c.1437C>A (p.Phe479Leu)
n.2492C>A
 dbSNP
1g.151406399A=CA2479570645POGZc.2684T= (p.Phe895=)
c.2477T= (p.Phe826=)
c.2636T= (p.Phe879=)
c.2657T= (p.Phe886=)
n.2784T=
c.2351T= (p.Phe784=)
c.2609T= (p.Phe870=)
c.2504T= (p.Phe835=)
c.836T= (p.Phe279=)
c.2450T= (p.Phe817=)
c.2528T= (p.Phe843=)
c.2279T= (p.Phe760=)
n.2464T=
c.2510T= (p.Phe837=)
c.1436T= (p.Phe479=)
n.2491T=
1g.151406399A>CCA341949838POGZc.2684T>G (p.Phe895Cys)
c.2477T>G (p.Phe826Cys)
c.2636T>G (p.Phe879Cys)
c.2657T>G (p.Phe886Cys)
n.2784T>G
c.2351T>G (p.Phe784Cys)
c.2609T>G (p.Phe870Cys)
c.2504T>G (p.Phe835Cys)
c.836T>G (p.Phe279Cys)
c.2450T>G (p.Phe817Cys)
c.2528T>G (p.Phe843Cys)
c.2279T>G (p.Phe760Cys)
n.2464T>G
c.2510T>G (p.Phe837Cys)
c.1436T>G (p.Phe479Cys)
n.2491T>G
1g.151406399A>GCA341949840POGZc.2684T>C (p.Phe895Ser)
c.2477T>C (p.Phe826Ser)
c.2636T>C (p.Phe879Ser)
c.2657T>C (p.Phe886Ser)
n.2784T>C
c.2351T>C (p.Phe784Ser)
c.2609T>C (p.Phe870Ser)
c.2504T>C (p.Phe835Ser)
c.836T>C (p.Phe279Ser)
c.2450T>C (p.Phe817Ser)
c.2528T>C (p.Phe843Ser)
c.2279T>C (p.Phe760Ser)
n.2464T>C
c.2510T>C (p.Phe837Ser)
c.1436T>C (p.Phe479Ser)
n.2491T>C
 dbSNP
1g.151406399A>TCA341949841POGZc.2684T>A (p.Phe895Tyr)
c.2477T>A (p.Phe826Tyr)
c.2636T>A (p.Phe879Tyr)
c.2657T>A (p.Phe886Tyr)
n.2784T>A
c.2351T>A (p.Phe784Tyr)
c.2609T>A (p.Phe870Tyr)
c.2504T>A (p.Phe835Tyr)
c.836T>A (p.Phe279Tyr)
c.2450T>A (p.Phe817Tyr)
c.2528T>A (p.Phe843Tyr)
c.2279T>A (p.Phe760Tyr)
n.2464T>A
c.2510T>A (p.Phe837Tyr)
c.1436T>A (p.Phe479Tyr)
n.2491T>A
1g.151406400A>CCA341949847POGZc.2683T>G (p.Phe895Val)
c.2476T>G (p.Phe826Val)
c.2635T>G (p.Phe879Val)
c.2656T>G (p.Phe886Val)
n.2783T>G
c.2350T>G (p.Phe784Val)
c.2608T>G (p.Phe870Val)
c.2503T>G (p.Phe835Val)
c.835T>G (p.Phe279Val)
c.2449T>G (p.Phe817Val)
c.2527T>G (p.Phe843Val)
c.2278T>G (p.Phe760Val)
n.2463T>G
c.2509T>G (p.Phe837Val)
c.1435T>G (p.Phe479Val)
n.2490T>G
1g.151406400A>GCA341949849POGZc.2683T>C (p.Phe895Leu)
c.2476T>C (p.Phe826Leu)
c.2635T>C (p.Phe879Leu)
c.2656T>C (p.Phe886Leu)
n.2783T>C
c.2350T>C (p.Phe784Leu)
c.2608T>C (p.Phe870Leu)
c.2503T>C (p.Phe835Leu)
c.835T>C (p.Phe279Leu)
c.2449T>C (p.Phe817Leu)
c.2527T>C (p.Phe843Leu)
c.2278T>C (p.Phe760Leu)
n.2463T>C
c.2509T>C (p.Phe837Leu)
c.1435T>C (p.Phe479Leu)
n.2490T>C
1g.151406400A>TCA341949848POGZc.2683T>A (p.Phe895Ile)
c.2476T>A (p.Phe826Ile)
c.2635T>A (p.Phe879Ile)
c.2656T>A (p.Phe886Ile)
n.2783T>A
c.2350T>A (p.Phe784Ile)
c.2608T>A (p.Phe870Ile)
c.2503T>A (p.Phe835Ile)
c.835T>A (p.Phe279Ile)
c.2449T>A (p.Phe817Ile)
c.2527T>A (p.Phe843Ile)
c.2278T>A (p.Phe760Ile)
n.2463T>A
c.2509T>A (p.Phe837Ile)
c.1435T>A (p.Phe479Ile)
n.2490T>A
1g.151406401G>ACA420909804POGZc.2682C>T (p.Ser894=)
c.2475C>T (p.Ser825=)
c.2634C>T (p.Ser878=)
c.2655C>T (p.Ser885=)
n.2782C>T
c.2349C>T (p.Ser783=)
c.2607C>T (p.Ser869=)
c.2502C>T (p.Ser834=)
c.834C>T (p.Ser278=)
c.2448C>T (p.Ser816=)
c.2526C>T (p.Ser842=)
c.2277C>T (p.Ser759=)
n.2462C>T
c.2508C>T (p.Ser836=)
c.1434C>T (p.Ser478=)
n.2489C>T
 dbSNP gnomAD v4
1g.151406401G>CCA1091088POGZc.2682C>G (p.Ser894=)
c.2475C>G (p.Ser825=)
c.2634C>G (p.Ser878=)
c.2655C>G (p.Ser885=)
n.2782C>G
c.2349C>G (p.Ser783=)
c.2607C>G (p.Ser869=)
c.2502C>G (p.Ser834=)
c.834C>G (p.Ser278=)
c.2448C>G (p.Ser816=)
c.2526C>G (p.Ser842=)
c.2277C>G (p.Ser759=)
n.2462C>G
c.2508C>G (p.Ser836=)
c.1434C>G (p.Ser478=)
n.2489C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406401G=CA1141642798POGZc.2682C= (p.Ser894=)
c.2475C= (p.Ser825=)
c.2634C= (p.Ser878=)
c.2655C= (p.Ser885=)
n.2782C=
c.2349C= (p.Ser783=)
c.2607C= (p.Ser869=)
c.2502C= (p.Ser834=)
c.834C= (p.Ser278=)
c.2448C= (p.Ser816=)
c.2526C= (p.Ser842=)
c.2277C= (p.Ser759=)
n.2462C=
c.2508C= (p.Ser836=)
c.1434C= (p.Ser478=)
n.2489C=
1g.151406401G>TCA420909805POGZc.2682C>A (p.Ser894=)
c.2475C>A (p.Ser825=)
c.2634C>A (p.Ser878=)
c.2655C>A (p.Ser885=)
n.2782C>A
c.2349C>A (p.Ser783=)
c.2607C>A (p.Ser869=)
c.2502C>A (p.Ser834=)
c.834C>A (p.Ser278=)
c.2448C>A (p.Ser816=)
c.2526C>A (p.Ser842=)
c.2277C>A (p.Ser759=)
n.2462C>A
c.2508C>A (p.Ser836=)
c.1434C>A (p.Ser478=)
n.2489C>A
 gnomAD v4
1g.151406402G>ACA341949856POGZc.2681C>T (p.Ser894Phe)
c.2474C>T (p.Ser825Phe)
c.2633C>T (p.Ser878Phe)
c.2654C>T (p.Ser885Phe)
n.2781C>T
c.2348C>T (p.Ser783Phe)
c.2606C>T (p.Ser869Phe)
c.2501C>T (p.Ser834Phe)
c.833C>T (p.Ser278Phe)
c.2447C>T (p.Ser816Phe)
c.2525C>T (p.Ser842Phe)
c.2276C>T (p.Ser759Phe)
n.2461C>T
c.2507C>T (p.Ser836Phe)
c.1433C>T (p.Ser478Phe)
n.2488C>T
 gnomAD v4
1g.151406402G>CCA341949857POGZc.2681C>G (p.Ser894Cys)
c.2474C>G (p.Ser825Cys)
c.2633C>G (p.Ser878Cys)
c.2654C>G (p.Ser885Cys)
n.2781C>G
c.2348C>G (p.Ser783Cys)
c.2606C>G (p.Ser869Cys)
c.2501C>G (p.Ser834Cys)
c.833C>G (p.Ser278Cys)
c.2447C>G (p.Ser816Cys)
c.2525C>G (p.Ser842Cys)
c.2276C>G (p.Ser759Cys)
n.2461C>G
c.2507C>G (p.Ser836Cys)
c.1433C>G (p.Ser478Cys)
n.2488C>G
 gnomAD v4
1g.151406402G>TCA341949858POGZc.2681C>A (p.Ser894Tyr)
c.2474C>A (p.Ser825Tyr)
c.2633C>A (p.Ser878Tyr)
c.2654C>A (p.Ser885Tyr)
n.2781C>A
c.2348C>A (p.Ser783Tyr)
c.2606C>A (p.Ser869Tyr)
c.2501C>A (p.Ser834Tyr)
c.833C>A (p.Ser278Tyr)
c.2447C>A (p.Ser816Tyr)
c.2525C>A (p.Ser842Tyr)
c.2276C>A (p.Ser759Tyr)
n.2461C>A
c.2507C>A (p.Ser836Tyr)
c.1433C>A (p.Ser478Tyr)
n.2488C>A
 gnomAD v4
1g.151406403A=CA2479570646POGZc.2680T= (p.Ser894=)
c.2473T= (p.Ser825=)
c.2632T= (p.Ser878=)
c.2653T= (p.Ser885=)
n.2780T=
c.2347T= (p.Ser783=)
c.2605T= (p.Ser869=)
c.2500T= (p.Ser834=)
c.832T= (p.Ser278=)
c.2446T= (p.Ser816=)
c.2524T= (p.Ser842=)
c.2275T= (p.Ser759=)
n.2460T=
c.2506T= (p.Ser836=)
c.1432T= (p.Ser478=)
n.2487T=
1g.151406403A>CCA341949862POGZc.2680T>G (p.Ser894Ala)
c.2473T>G (p.Ser825Ala)
c.2632T>G (p.Ser878Ala)
c.2653T>G (p.Ser885Ala)
n.2780T>G
c.2347T>G (p.Ser783Ala)
c.2605T>G (p.Ser869Ala)
c.2500T>G (p.Ser834Ala)
c.832T>G (p.Ser278Ala)
c.2446T>G (p.Ser816Ala)
c.2524T>G (p.Ser842Ala)
c.2275T>G (p.Ser759Ala)
n.2460T>G
c.2506T>G (p.Ser836Ala)
c.1432T>G (p.Ser478Ala)
n.2487T>G
1g.151406403A>GCA29569503POGZc.2680T>C (p.Ser894Pro)
c.2473T>C (p.Ser825Pro)
c.2632T>C (p.Ser878Pro)
c.2653T>C (p.Ser885Pro)
n.2780T>C
c.2347T>C (p.Ser783Pro)
c.2605T>C (p.Ser869Pro)
c.2500T>C (p.Ser834Pro)
c.832T>C (p.Ser278Pro)
c.2446T>C (p.Ser816Pro)
c.2524T>C (p.Ser842Pro)
c.2275T>C (p.Ser759Pro)
n.2460T>C
c.2506T>C (p.Ser836Pro)
c.1432T>C (p.Ser478Pro)
n.2487T>C
 dbSNP gnomAD v4
1g.151406403A>TCA341949864POGZc.2680T>A (p.Ser894Thr)
c.2473T>A (p.Ser825Thr)
c.2632T>A (p.Ser878Thr)
c.2653T>A (p.Ser885Thr)
n.2780T>A
c.2347T>A (p.Ser783Thr)
c.2605T>A (p.Ser869Thr)
c.2500T>A (p.Ser834Thr)
c.832T>A (p.Ser278Thr)
c.2446T>A (p.Ser816Thr)
c.2524T>A (p.Ser842Thr)
c.2275T>A (p.Ser759Thr)
n.2460T>A
c.2506T>A (p.Ser836Thr)
c.1432T>A (p.Ser478Thr)
n.2487T>A
1g.151406403_151406406delinsAAGGCA2479570647POGZc.2677_2680delinsCCTT (p.Pro893=)
c.2470_2473delinsCCTT (p.Pro824=)
c.2629_2632delinsCCTT (p.Pro877=)
c.2650_2653delinsCCTT (p.Pro884=)
n.2777_2780delinsCCTT
c.2344_2347delinsCCTT (p.Pro782=)
c.2602_2605delinsCCTT (p.Pro868=)
c.2497_2500delinsCCTT (p.Pro833=)
c.829_832delinsCCTT (p.Pro277=)
c.2443_2446delinsCCTT (p.Pro815=)
c.2521_2524delinsCCTT (p.Pro841=)
c.2272_2275delinsCCTT (p.Pro758=)
n.2457_2460delinsCCTT
c.2503_2506delinsCCTT (p.Pro835=)
c.1429_1432delinsCCTT (p.Pro477=)
n.2484_2487delinsCCTT
1g.151406404A>CCA420909818POGZc.2679T>G (p.Pro893=)
c.2472T>G (p.Pro824=)
c.2631T>G (p.Pro877=)
c.2652T>G (p.Pro884=)
n.2779T>G
c.2346T>G (p.Pro782=)
c.2604T>G (p.Pro868=)
c.2499T>G (p.Pro833=)
c.831T>G (p.Pro277=)
c.2445T>G (p.Pro815=)
c.2523T>G (p.Pro841=)
c.2274T>G (p.Pro758=)
n.2459T>G
c.2505T>G (p.Pro835=)
c.1431T>G (p.Pro477=)
n.2486T>G
1g.151406404A>GCA420909824POGZc.2679T>C (p.Pro893=)
c.2472T>C (p.Pro824=)
c.2631T>C (p.Pro877=)
c.2652T>C (p.Pro884=)
n.2779T>C
c.2346T>C (p.Pro782=)
c.2604T>C (p.Pro868=)
c.2499T>C (p.Pro833=)
c.831T>C (p.Pro277=)
c.2445T>C (p.Pro815=)
c.2523T>C (p.Pro841=)
c.2274T>C (p.Pro758=)
n.2459T>C
c.2505T>C (p.Pro835=)
c.1431T>C (p.Pro477=)
n.2486T>C
 gnomAD v4
1g.151406404A>TCA420909826POGZc.2679T>A (p.Pro893=)
c.2472T>A (p.Pro824=)
c.2631T>A (p.Pro877=)
c.2652T>A (p.Pro884=)
n.2779T>A
c.2346T>A (p.Pro782=)
c.2604T>A (p.Pro868=)
c.2499T>A (p.Pro833=)
c.831T>A (p.Pro277=)
c.2445T>A (p.Pro815=)
c.2523T>A (p.Pro841=)
c.2274T>A (p.Pro758=)
n.2459T>A
c.2505T>A (p.Pro835=)
c.1431T>A (p.Pro477=)
n.2486T>A
1g.151406410_151406412delCA341949867POGZc.2677_2679del (p.Pro893del)
c.2470_2472del (p.Pro824del)
c.2629_2631del (p.Pro877del)
c.2650_2652del (p.Pro884del)
n.2777_2779del
c.2344_2346del (p.Pro782del)
c.2602_2604del (p.Pro868del)
c.2497_2499del (p.Pro833del)
c.829_831del (p.Pro277del)
c.2443_2445del (p.Pro815del)
c.2521_2523del (p.Pro841del)
c.2272_2274del (p.Pro758del)
n.2457_2459del
c.2503_2505del (p.Pro835del)
c.1429_1431del (p.Pro477del)
n.2484_2486del
 dbSNP gnomAD v3 gnomAD v4
1g.151406405G>ACA341949869POGZc.2678C>T (p.Pro893Leu)
c.2471C>T (p.Pro824Leu)
c.2630C>T (p.Pro877Leu)
c.2651C>T (p.Pro884Leu)
n.2778C>T
c.2345C>T (p.Pro782Leu)
c.2603C>T (p.Pro868Leu)
c.2498C>T (p.Pro833Leu)
c.830C>T (p.Pro277Leu)
c.2444C>T (p.Pro815Leu)
c.2522C>T (p.Pro841Leu)
c.2273C>T (p.Pro758Leu)
n.2458C>T
c.2504C>T (p.Pro835Leu)
c.1430C>T (p.Pro477Leu)
n.2485C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406405G>CCA341949871POGZc.2678C>G (p.Pro893Arg)
c.2471C>G (p.Pro824Arg)
c.2630C>G (p.Pro877Arg)
c.2651C>G (p.Pro884Arg)
n.2778C>G
c.2345C>G (p.Pro782Arg)
c.2603C>G (p.Pro868Arg)
c.2498C>G (p.Pro833Arg)
c.830C>G (p.Pro277Arg)
c.2444C>G (p.Pro815Arg)
c.2522C>G (p.Pro841Arg)
c.2273C>G (p.Pro758Arg)
n.2458C>G
c.2504C>G (p.Pro835Arg)
c.1430C>G (p.Pro477Arg)
n.2485C>G
1g.151406405G=CA2479570648POGZc.2678C= (p.Pro893=)
c.2471C= (p.Pro824=)
c.2630C= (p.Pro877=)
c.2651C= (p.Pro884=)
n.2778C=
c.2345C= (p.Pro782=)
c.2603C= (p.Pro868=)
c.2498C= (p.Pro833=)
c.830C= (p.Pro277=)
c.2444C= (p.Pro815=)
c.2522C= (p.Pro841=)
c.2273C= (p.Pro758=)
n.2458C=
c.2504C= (p.Pro835=)
c.1430C= (p.Pro477=)
n.2485C=
1g.151406405G>TCA341949873POGZc.2678C>A (p.Pro893His)
c.2471C>A (p.Pro824His)
c.2630C>A (p.Pro877His)
c.2651C>A (p.Pro884His)
n.2778C>A
c.2345C>A (p.Pro782His)
c.2603C>A (p.Pro868His)
c.2498C>A (p.Pro833His)
c.830C>A (p.Pro277His)
c.2444C>A (p.Pro815His)
c.2522C>A (p.Pro841His)
c.2273C>A (p.Pro758His)
n.2458C>A
c.2504C>A (p.Pro835His)
c.1430C>A (p.Pro477His)
n.2485C>A
1g.151406406G>ACA341949880POGZc.2677C>T (p.Pro893Ser)
c.2470C>T (p.Pro824Ser)
c.2629C>T (p.Pro877Ser)
c.2650C>T (p.Pro884Ser)
n.2777C>T
c.2344C>T (p.Pro782Ser)
c.2602C>T (p.Pro868Ser)
c.2497C>T (p.Pro833Ser)
c.829C>T (p.Pro277Ser)
c.2443C>T (p.Pro815Ser)
c.2521C>T (p.Pro841Ser)
c.2272C>T (p.Pro758Ser)
n.2457C>T
c.2503C>T (p.Pro835Ser)
c.1429C>T (p.Pro477Ser)
n.2484C>T
1g.151406406G>CCA341949878POGZc.2677C>G (p.Pro893Ala)
c.2470C>G (p.Pro824Ala)
c.2629C>G (p.Pro877Ala)
c.2650C>G (p.Pro884Ala)
n.2777C>G
c.2344C>G (p.Pro782Ala)
c.2602C>G (p.Pro868Ala)
c.2497C>G (p.Pro833Ala)
c.829C>G (p.Pro277Ala)
c.2443C>G (p.Pro815Ala)
c.2521C>G (p.Pro841Ala)
c.2272C>G (p.Pro758Ala)
n.2457C>G
c.2503C>G (p.Pro835Ala)
c.1429C>G (p.Pro477Ala)
n.2484C>G
 gnomAD v4
1g.151406406G>TCA341949876POGZc.2677C>A (p.Pro893Thr)
c.2470C>A (p.Pro824Thr)
c.2629C>A (p.Pro877Thr)
c.2650C>A (p.Pro884Thr)
n.2777C>A
c.2344C>A (p.Pro782Thr)
c.2602C>A (p.Pro868Thr)
c.2497C>A (p.Pro833Thr)
c.829C>A (p.Pro277Thr)
c.2443C>A (p.Pro815Thr)
c.2521C>A (p.Pro841Thr)
c.2272C>A (p.Pro758Thr)
n.2457C>A
c.2503C>A (p.Pro835Thr)
c.1429C>A (p.Pro477Thr)
n.2484C>A
1g.151406407A>CCA420909833POGZc.2676T>G (p.Pro892=)
c.2469T>G (p.Pro823=)
c.2628T>G (p.Pro876=)
c.2649T>G (p.Pro883=)
n.2776T>G
c.2343T>G (p.Pro781=)
c.2601T>G (p.Pro867=)
c.2496T>G (p.Pro832=)
c.828T>G (p.Pro276=)
c.2442T>G (p.Pro814=)
c.2520T>G (p.Pro840=)
c.2271T>G (p.Pro757=)
n.2456T>G
c.2502T>G (p.Pro834=)
c.1428T>G (p.Pro476=)
n.2483T>G
1g.151406407A>GCA420909834POGZc.2676T>C (p.Pro892=)
c.2469T>C (p.Pro823=)
c.2628T>C (p.Pro876=)
c.2649T>C (p.Pro883=)
n.2776T>C
c.2343T>C (p.Pro781=)
c.2601T>C (p.Pro867=)
c.2496T>C (p.Pro832=)
c.828T>C (p.Pro276=)
c.2442T>C (p.Pro814=)
c.2520T>C (p.Pro840=)
c.2271T>C (p.Pro757=)
n.2456T>C
c.2502T>C (p.Pro834=)
c.1428T>C (p.Pro476=)
n.2483T>C
1g.151406407A>TCA420909835POGZc.2676T>A (p.Pro892=)
c.2469T>A (p.Pro823=)
c.2628T>A (p.Pro876=)
c.2649T>A (p.Pro883=)
n.2776T>A
c.2343T>A (p.Pro781=)
c.2601T>A (p.Pro867=)
c.2496T>A (p.Pro832=)
c.828T>A (p.Pro276=)
c.2442T>A (p.Pro814=)
c.2520T>A (p.Pro840=)
c.2271T>A (p.Pro757=)
n.2456T>A
c.2502T>A (p.Pro834=)
c.1428T>A (p.Pro476=)
n.2483T>A
1g.151406408G>ACA341949882POGZc.2675C>T (p.Pro892Leu)
c.2468C>T (p.Pro823Leu)
c.2627C>T (p.Pro876Leu)
c.2648C>T (p.Pro883Leu)
n.2775C>T
c.2342C>T (p.Pro781Leu)
c.2600C>T (p.Pro867Leu)
c.2495C>T (p.Pro832Leu)
c.827C>T (p.Pro276Leu)
c.2441C>T (p.Pro814Leu)
c.2519C>T (p.Pro840Leu)
c.2270C>T (p.Pro757Leu)
n.2455C>T
c.2501C>T (p.Pro834Leu)
c.1427C>T (p.Pro476Leu)
n.2482C>T
 ClinVar
1g.151406408G>CCA341949883POGZc.2675C>G (p.Pro892Arg)
c.2468C>G (p.Pro823Arg)
c.2627C>G (p.Pro876Arg)
c.2648C>G (p.Pro883Arg)
n.2775C>G
c.2342C>G (p.Pro781Arg)
c.2600C>G (p.Pro867Arg)
c.2495C>G (p.Pro832Arg)
c.827C>G (p.Pro276Arg)
c.2441C>G (p.Pro814Arg)
c.2519C>G (p.Pro840Arg)
c.2270C>G (p.Pro757Arg)
n.2455C>G
c.2501C>G (p.Pro834Arg)
c.1427C>G (p.Pro476Arg)
n.2482C>G
1g.151406408G>TCA341949885POGZc.2675C>A (p.Pro892His)
c.2468C>A (p.Pro823His)
c.2627C>A (p.Pro876His)
c.2648C>A (p.Pro883His)
n.2775C>A
c.2342C>A (p.Pro781His)
c.2600C>A (p.Pro867His)
c.2495C>A (p.Pro832His)
c.827C>A (p.Pro276His)
c.2441C>A (p.Pro814His)
c.2519C>A (p.Pro840His)
c.2270C>A (p.Pro757His)
n.2455C>A
c.2501C>A (p.Pro834His)
c.1427C>A (p.Pro476His)
n.2482C>A
1g.151406409G>ACA341949887POGZc.2674C>T (p.Pro892Ser)
c.2467C>T (p.Pro823Ser)
c.2626C>T (p.Pro876Ser)
c.2647C>T (p.Pro883Ser)
n.2774C>T
c.2341C>T (p.Pro781Ser)
c.2599C>T (p.Pro867Ser)
c.2494C>T (p.Pro832Ser)
c.826C>T (p.Pro276Ser)
c.2440C>T (p.Pro814Ser)
c.2518C>T (p.Pro840Ser)
c.2269C>T (p.Pro757Ser)
n.2454C>T
c.2500C>T (p.Pro834Ser)
c.1426C>T (p.Pro476Ser)
n.2481C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406409G>CCA341949888POGZc.2674C>G (p.Pro892Ala)
c.2467C>G (p.Pro823Ala)
c.2626C>G (p.Pro876Ala)
c.2647C>G (p.Pro883Ala)
n.2774C>G
c.2341C>G (p.Pro781Ala)
c.2599C>G (p.Pro867Ala)
c.2494C>G (p.Pro832Ala)
c.826C>G (p.Pro276Ala)
c.2440C>G (p.Pro814Ala)
c.2518C>G (p.Pro840Ala)
c.2269C>G (p.Pro757Ala)
n.2454C>G
c.2500C>G (p.Pro834Ala)
c.1426C>G (p.Pro476Ala)
n.2481C>G
1g.151406409G=CA2479570649POGZc.2674C= (p.Pro892=)
c.2467C= (p.Pro823=)
c.2626C= (p.Pro876=)
c.2647C= (p.Pro883=)
n.2774C=
c.2341C= (p.Pro781=)
c.2599C= (p.Pro867=)
c.2494C= (p.Pro832=)
c.826C= (p.Pro276=)
c.2440C= (p.Pro814=)
c.2518C= (p.Pro840=)
c.2269C= (p.Pro757=)
n.2454C=
c.2500C= (p.Pro834=)
c.1426C= (p.Pro476=)
n.2481C=
1g.151406409G>TCA341949891POGZc.2674C>A (p.Pro892Thr)
c.2467C>A (p.Pro823Thr)
c.2626C>A (p.Pro876Thr)
c.2647C>A (p.Pro883Thr)
n.2774C>A
c.2341C>A (p.Pro781Thr)
c.2599C>A (p.Pro867Thr)
c.2494C>A (p.Pro832Thr)
c.826C>A (p.Pro276Thr)
c.2440C>A (p.Pro814Thr)
c.2518C>A (p.Pro840Thr)
c.2269C>A (p.Pro757Thr)
n.2454C>A
c.2500C>A (p.Pro834Thr)
c.1426C>A (p.Pro476Thr)
n.2481C>A
1g.151406410A=CA2479570650POGZc.2673T= (p.Pro891=)
c.2466T= (p.Pro822=)
c.2625T= (p.Pro875=)
c.2646T= (p.Pro882=)
n.2773T=
c.2340T= (p.Pro780=)
c.2598T= (p.Pro866=)
c.2493T= (p.Pro831=)
c.825T= (p.Pro275=)
c.2439T= (p.Pro813=)
c.2517T= (p.Pro839=)
c.2268T= (p.Pro756=)
n.2453T=
c.2499T= (p.Pro833=)
c.1425T= (p.Pro475=)
n.2480T=
1g.151406410A>CCA420909838POGZc.2673T>G (p.Pro891=)
c.2466T>G (p.Pro822=)
c.2625T>G (p.Pro875=)
c.2646T>G (p.Pro882=)
n.2773T>G
c.2340T>G (p.Pro780=)
c.2598T>G (p.Pro866=)
c.2493T>G (p.Pro831=)
c.825T>G (p.Pro275=)
c.2439T>G (p.Pro813=)
c.2517T>G (p.Pro839=)
c.2268T>G (p.Pro756=)
n.2453T>G
c.2499T>G (p.Pro833=)
c.1425T>G (p.Pro475=)
n.2480T>G
1g.151406410A>GCA420909840POGZc.2673T>C (p.Pro891=)
c.2466T>C (p.Pro822=)
c.2625T>C (p.Pro875=)
c.2646T>C (p.Pro882=)
n.2773T>C
c.2340T>C (p.Pro780=)
c.2598T>C (p.Pro866=)
c.2493T>C (p.Pro831=)
c.825T>C (p.Pro275=)
c.2439T>C (p.Pro813=)
c.2517T>C (p.Pro839=)
c.2268T>C (p.Pro756=)
n.2453T>C
c.2499T>C (p.Pro833=)
c.1425T>C (p.Pro475=)
n.2480T>C
 dbSNP gnomAD v4
1g.151406410A>TCA420909844POGZc.2673T>A (p.Pro891=)
c.2466T>A (p.Pro822=)
c.2625T>A (p.Pro875=)
c.2646T>A (p.Pro882=)
n.2773T>A
c.2340T>A (p.Pro780=)
c.2598T>A (p.Pro866=)
c.2493T>A (p.Pro831=)
c.825T>A (p.Pro275=)
c.2439T>A (p.Pro813=)
c.2517T>A (p.Pro839=)
c.2268T>A (p.Pro756=)
n.2453T>A
c.2499T>A (p.Pro833=)
c.1425T>A (p.Pro475=)
n.2480T>A
1g.151406411G>ACA1091089POGZc.2672C>T (p.Pro891Leu)
c.2465C>T (p.Pro822Leu)
c.2624C>T (p.Pro875Leu)
c.2645C>T (p.Pro882Leu)
n.2772C>T
c.2339C>T (p.Pro780Leu)
c.2597C>T (p.Pro866Leu)
c.2492C>T (p.Pro831Leu)
c.824C>T (p.Pro275Leu)
c.2438C>T (p.Pro813Leu)
c.2516C>T (p.Pro839Leu)
c.2267C>T (p.Pro756Leu)
n.2452C>T
c.2498C>T (p.Pro833Leu)
c.1424C>T (p.Pro475Leu)
n.2479C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406411G>CCA341949900POGZc.2672C>G (p.Pro891Arg)
c.2465C>G (p.Pro822Arg)
c.2624C>G (p.Pro875Arg)
c.2645C>G (p.Pro882Arg)
n.2772C>G
c.2339C>G (p.Pro780Arg)
c.2597C>G (p.Pro866Arg)
c.2492C>G (p.Pro831Arg)
c.824C>G (p.Pro275Arg)
c.2438C>G (p.Pro813Arg)
c.2516C>G (p.Pro839Arg)
c.2267C>G (p.Pro756Arg)
n.2452C>G
c.2498C>G (p.Pro833Arg)
c.1424C>G (p.Pro475Arg)
n.2479C>G
 gnomAD v4
1g.151406411G=CA1143672568POGZc.2672C= (p.Pro891=)
c.2465C= (p.Pro822=)
c.2624C= (p.Pro875=)
c.2645C= (p.Pro882=)
n.2772C=
c.2339C= (p.Pro780=)
c.2597C= (p.Pro866=)
c.2492C= (p.Pro831=)
c.824C= (p.Pro275=)
c.2438C= (p.Pro813=)
c.2516C= (p.Pro839=)
c.2267C= (p.Pro756=)
n.2452C=
c.2498C= (p.Pro833=)
c.1424C= (p.Pro475=)
n.2479C=
1g.151406411G>TCA341949904POGZc.2672C>A (p.Pro891His)
c.2465C>A (p.Pro822His)
c.2624C>A (p.Pro875His)
c.2645C>A (p.Pro882His)
n.2772C>A
c.2339C>A (p.Pro780His)
c.2597C>A (p.Pro866His)
c.2492C>A (p.Pro831His)
c.824C>A (p.Pro275His)
c.2438C>A (p.Pro813His)
c.2516C>A (p.Pro839His)
c.2267C>A (p.Pro756His)
n.2452C>A
c.2498C>A (p.Pro833His)
c.1424C>A (p.Pro475His)
n.2479C>A
1g.151406412G>ACA29569510POGZc.2671C>T (p.Pro891Ser)
c.2464C>T (p.Pro822Ser)
c.2623C>T (p.Pro875Ser)
c.2644C>T (p.Pro882Ser)
n.2771C>T
c.2338C>T (p.Pro780Ser)
c.2596C>T (p.Pro866Ser)
c.2491C>T (p.Pro831Ser)
c.823C>T (p.Pro275Ser)
c.2437C>T (p.Pro813Ser)
c.2515C>T (p.Pro839Ser)
c.2266C>T (p.Pro756Ser)
n.2451C>T
c.2497C>T (p.Pro833Ser)
c.1423C>T (p.Pro475Ser)
n.2478C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406412G>CCA341949911POGZc.2671C>G (p.Pro891Ala)
c.2464C>G (p.Pro822Ala)
c.2623C>G (p.Pro875Ala)
c.2644C>G (p.Pro882Ala)
n.2771C>G
c.2338C>G (p.Pro780Ala)
c.2596C>G (p.Pro866Ala)
c.2491C>G (p.Pro831Ala)
c.823C>G (p.Pro275Ala)
c.2437C>G (p.Pro813Ala)
c.2515C>G (p.Pro839Ala)
c.2266C>G (p.Pro756Ala)
n.2451C>G
c.2497C>G (p.Pro833Ala)
c.1423C>G (p.Pro475Ala)
n.2478C>G
1g.151406412G=CA2479570651POGZc.2671C= (p.Pro891=)
c.2464C= (p.Pro822=)
c.2623C= (p.Pro875=)
c.2644C= (p.Pro882=)
n.2771C=
c.2338C= (p.Pro780=)
c.2596C= (p.Pro866=)
c.2491C= (p.Pro831=)
c.823C= (p.Pro275=)
c.2437C= (p.Pro813=)
c.2515C= (p.Pro839=)
c.2266C= (p.Pro756=)
n.2451C=
c.2497C= (p.Pro833=)
c.1423C= (p.Pro475=)
n.2478C=
1g.151406412G>TCA341949914POGZc.2671C>A (p.Pro891Thr)
c.2464C>A (p.Pro822Thr)
c.2623C>A (p.Pro875Thr)
c.2644C>A (p.Pro882Thr)
n.2771C>A
c.2338C>A (p.Pro780Thr)
c.2596C>A (p.Pro866Thr)
c.2491C>A (p.Pro831Thr)
c.823C>A (p.Pro275Thr)
c.2437C>A (p.Pro813Thr)
c.2515C>A (p.Pro839Thr)
c.2266C>A (p.Pro756Thr)
n.2451C>A
c.2497C>A (p.Pro833Thr)
c.1423C>A (p.Pro475Thr)
n.2478C>A
1g.151406413G>ACA420909847POGZc.2670C>T (p.Tyr890=)
c.2463C>T (p.Tyr821=)
c.2622C>T (p.Tyr874=)
c.2643C>T (p.Tyr881=)
n.2770C>T
c.2337C>T (p.Tyr779=)
c.2595C>T (p.Tyr865=)
c.2490C>T (p.Tyr830=)
c.822C>T (p.Tyr274=)
c.2436C>T (p.Tyr812=)
c.2514C>T (p.Tyr838=)
c.2265C>T (p.Tyr755=)
n.2450C>T
c.2496C>T (p.Tyr832=)
c.1422C>T (p.Tyr474=)
n.2477C>T
1g.151406413G>CCA341949918POGZc.2670C>G (p.Tyr890Ter)
c.2463C>G (p.Tyr821Ter)
c.2622C>G (p.Tyr874Ter)
c.2643C>G (p.Tyr881Ter)
n.2770C>G
c.2337C>G (p.Tyr779Ter)
c.2595C>G (p.Tyr865Ter)
c.2490C>G (p.Tyr830Ter)
c.822C>G (p.Tyr274Ter)
c.2436C>G (p.Tyr812Ter)
c.2514C>G (p.Tyr838Ter)
c.2265C>G (p.Tyr755Ter)
n.2450C>G
c.2496C>G (p.Tyr832Ter)
c.1422C>G (p.Tyr474Ter)
n.2477C>G
1g.151406413G>TCA341949921POGZc.2670C>A (p.Tyr890Ter)
c.2463C>A (p.Tyr821Ter)
c.2622C>A (p.Tyr874Ter)
c.2643C>A (p.Tyr881Ter)
n.2770C>A
c.2337C>A (p.Tyr779Ter)
c.2595C>A (p.Tyr865Ter)
c.2490C>A (p.Tyr830Ter)
c.822C>A (p.Tyr274Ter)
c.2436C>A (p.Tyr812Ter)
c.2514C>A (p.Tyr838Ter)
c.2265C>A (p.Tyr755Ter)
n.2450C>A
c.2496C>A (p.Tyr832Ter)
c.1422C>A (p.Tyr474Ter)
n.2477C>A
1g.151406414T>ACA341949925POGZc.2669A>T (p.Tyr890Phe)
c.2462A>T (p.Tyr821Phe)
c.2621A>T (p.Tyr874Phe)
c.2642A>T (p.Tyr881Phe)
n.2769A>T
c.2336A>T (p.Tyr779Phe)
c.2594A>T (p.Tyr865Phe)
c.2489A>T (p.Tyr830Phe)
c.821A>T (p.Tyr274Phe)
c.2435A>T (p.Tyr812Phe)
c.2513A>T (p.Tyr838Phe)
c.2264A>T (p.Tyr755Phe)
n.2449A>T
c.2495A>T (p.Tyr832Phe)
c.1421A>T (p.Tyr474Phe)
n.2476A>T
1g.151406414T>CCA341949932POGZc.2669A>G (p.Tyr890Cys)
c.2462A>G (p.Tyr821Cys)
c.2621A>G (p.Tyr874Cys)
c.2642A>G (p.Tyr881Cys)
n.2769A>G
c.2336A>G (p.Tyr779Cys)
c.2594A>G (p.Tyr865Cys)
c.2489A>G (p.Tyr830Cys)
c.821A>G (p.Tyr274Cys)
c.2435A>G (p.Tyr812Cys)
c.2513A>G (p.Tyr838Cys)
c.2264A>G (p.Tyr755Cys)
n.2449A>G
c.2495A>G (p.Tyr832Cys)
c.1421A>G (p.Tyr474Cys)
n.2476A>G
 dbSNP gnomAD v4
1g.151406414T>GCA341949928POGZc.2669A>C (p.Tyr890Ser)
c.2462A>C (p.Tyr821Ser)
c.2621A>C (p.Tyr874Ser)
c.2642A>C (p.Tyr881Ser)
n.2769A>C
c.2336A>C (p.Tyr779Ser)
c.2594A>C (p.Tyr865Ser)
c.2489A>C (p.Tyr830Ser)
c.821A>C (p.Tyr274Ser)
c.2435A>C (p.Tyr812Ser)
c.2513A>C (p.Tyr838Ser)
c.2264A>C (p.Tyr755Ser)
n.2449A>C
c.2495A>C (p.Tyr832Ser)
c.1421A>C (p.Tyr474Ser)
n.2476A>C
 dbSNP
1g.151406414T=CA2479570652POGZc.2669A= (p.Tyr890=)
c.2462A= (p.Tyr821=)
c.2621A= (p.Tyr874=)
c.2642A= (p.Tyr881=)
n.2769A=
c.2336A= (p.Tyr779=)
c.2594A= (p.Tyr865=)
c.2489A= (p.Tyr830=)
c.821A= (p.Tyr274=)
c.2435A= (p.Tyr812=)
c.2513A= (p.Tyr838=)
c.2264A= (p.Tyr755=)
n.2449A=
c.2495A= (p.Tyr832=)
c.1421A= (p.Tyr474=)
n.2476A=
1g.151406415A>CCA341949934POGZc.2668T>G (p.Tyr890Asp)
c.2461T>G (p.Tyr821Asp)
c.2620T>G (p.Tyr874Asp)
c.2641T>G (p.Tyr881Asp)
n.2768T>G
c.2335T>G (p.Tyr779Asp)
c.2593T>G (p.Tyr865Asp)
c.2488T>G (p.Tyr830Asp)
c.820T>G (p.Tyr274Asp)
c.2434T>G (p.Tyr812Asp)
c.2512T>G (p.Tyr838Asp)
c.2263T>G (p.Tyr755Asp)
n.2448T>G
c.2494T>G (p.Tyr832Asp)
c.1420T>G (p.Tyr474Asp)
n.2475T>G
1g.151406415A>GCA341949938POGZc.2668T>C (p.Tyr890His)
c.2461T>C (p.Tyr821His)
c.2620T>C (p.Tyr874His)
c.2641T>C (p.Tyr881His)
n.2768T>C
c.2335T>C (p.Tyr779His)
c.2593T>C (p.Tyr865His)
c.2488T>C (p.Tyr830His)
c.820T>C (p.Tyr274His)
c.2434T>C (p.Tyr812His)
c.2512T>C (p.Tyr838His)
c.2263T>C (p.Tyr755His)
n.2448T>C
c.2494T>C (p.Tyr832His)
c.1420T>C (p.Tyr474His)
n.2475T>C
 gnomAD v4
1g.151406415A>TCA341949939POGZc.2668T>A (p.Tyr890Asn)
c.2461T>A (p.Tyr821Asn)
c.2620T>A (p.Tyr874Asn)
c.2641T>A (p.Tyr881Asn)
n.2768T>A
c.2335T>A (p.Tyr779Asn)
c.2593T>A (p.Tyr865Asn)
c.2488T>A (p.Tyr830Asn)
c.820T>A (p.Tyr274Asn)
c.2434T>A (p.Tyr812Asn)
c.2512T>A (p.Tyr838Asn)
c.2263T>A (p.Tyr755Asn)
n.2448T>A
c.2494T>A (p.Tyr832Asn)
c.1420T>A (p.Tyr474Asn)
n.2475T>A
1g.151406416C>ACA341949944POGZc.2667G>T (p.Met889Ile)
c.2460G>T (p.Met820Ile)
c.2619G>T (p.Met873Ile)
c.2640G>T (p.Met880Ile)
n.2767G>T
c.2334G>T (p.Met778Ile)
c.2592G>T (p.Met864Ile)
c.2487G>T (p.Met829Ile)
c.819G>T (p.Met273Ile)
c.2433G>T (p.Met811Ile)
c.2511G>T (p.Met837Ile)
c.2262G>T (p.Met754Ile)
n.2447G>T
c.2493G>T (p.Met831Ile)
c.1419G>T (p.Met473Ile)
n.2474G>T
1g.151406416C=CA2479570653POGZc.2667G= (p.Met889=)
c.2460G= (p.Met820=)
c.2619G= (p.Met873=)
c.2640G= (p.Met880=)
n.2767G=
c.2334G= (p.Met778=)
c.2592G= (p.Met864=)
c.2487G= (p.Met829=)
c.819G= (p.Met273=)
c.2433G= (p.Met811=)
c.2511G= (p.Met837=)
c.2262G= (p.Met754=)
n.2447G=
c.2493G= (p.Met831=)
c.1419G= (p.Met473=)
n.2474G=
1g.151406416C>GCA341949947POGZc.2667G>C (p.Met889Ile)
c.2460G>C (p.Met820Ile)
c.2619G>C (p.Met873Ile)
c.2640G>C (p.Met880Ile)
n.2767G>C
c.2334G>C (p.Met778Ile)
c.2592G>C (p.Met864Ile)
c.2487G>C (p.Met829Ile)
c.819G>C (p.Met273Ile)
c.2433G>C (p.Met811Ile)
c.2511G>C (p.Met837Ile)
c.2262G>C (p.Met754Ile)
n.2447G>C
c.2493G>C (p.Met831Ile)
c.1419G>C (p.Met473Ile)
n.2474G>C
1g.151406416C>TCA341949950POGZc.2667G>A (p.Met889Ile)
c.2460G>A (p.Met820Ile)
c.2619G>A (p.Met873Ile)
c.2640G>A (p.Met880Ile)
n.2767G>A
c.2334G>A (p.Met778Ile)
c.2592G>A (p.Met864Ile)
c.2487G>A (p.Met829Ile)
c.819G>A (p.Met273Ile)
c.2433G>A (p.Met811Ile)
c.2511G>A (p.Met837Ile)
c.2262G>A (p.Met754Ile)
n.2447G>A
c.2493G>A (p.Met831Ile)
c.1419G>A (p.Met473Ile)
n.2474G>A
 dbSNP
1g.151406417A=CA2479570654POGZc.2666T= (p.Met889=)
c.2459T= (p.Met820=)
c.2618T= (p.Met873=)
c.2639T= (p.Met880=)
n.2766T=
c.2333T= (p.Met778=)
c.2591T= (p.Met864=)
c.2486T= (p.Met829=)
c.818T= (p.Met273=)
c.2432T= (p.Met811=)
c.2510T= (p.Met837=)
c.2261T= (p.Met754=)
n.2446T=
c.2492T= (p.Met831=)
c.1418T= (p.Met473=)
n.2473T=
1g.151406417A>CCA341949952POGZc.2666T>G (p.Met889Arg)
c.2459T>G (p.Met820Arg)
c.2618T>G (p.Met873Arg)
c.2639T>G (p.Met880Arg)
n.2766T>G
c.2333T>G (p.Met778Arg)
c.2591T>G (p.Met864Arg)
c.2486T>G (p.Met829Arg)
c.818T>G (p.Met273Arg)
c.2432T>G (p.Met811Arg)
c.2510T>G (p.Met837Arg)
c.2261T>G (p.Met754Arg)
n.2446T>G
c.2492T>G (p.Met831Arg)
c.1418T>G (p.Met473Arg)
n.2473T>G
1g.151406417A>GCA341949956POGZc.2666T>C (p.Met889Thr)
c.2459T>C (p.Met820Thr)
c.2618T>C (p.Met873Thr)
c.2639T>C (p.Met880Thr)
n.2766T>C
c.2333T>C (p.Met778Thr)
c.2591T>C (p.Met864Thr)
c.2486T>C (p.Met829Thr)
c.818T>C (p.Met273Thr)
c.2432T>C (p.Met811Thr)
c.2510T>C (p.Met837Thr)
c.2261T>C (p.Met754Thr)
n.2446T>C
c.2492T>C (p.Met831Thr)
c.1418T>C (p.Met473Thr)
n.2473T>C
 dbSNP gnomAD v4
1g.151406417A>TCA341949959POGZc.2666T>A (p.Met889Lys)
c.2459T>A (p.Met820Lys)
c.2618T>A (p.Met873Lys)
c.2639T>A (p.Met880Lys)
n.2766T>A
c.2333T>A (p.Met778Lys)
c.2591T>A (p.Met864Lys)
c.2486T>A (p.Met829Lys)
c.818T>A (p.Met273Lys)
c.2432T>A (p.Met811Lys)
c.2510T>A (p.Met837Lys)
c.2261T>A (p.Met754Lys)
n.2446T>A
c.2492T>A (p.Met831Lys)
c.1418T>A (p.Met473Lys)
n.2473T>A
1g.151406418T>ACA341949962POGZc.2665A>T (p.Met889Leu)
c.2458A>T (p.Met820Leu)
c.2617A>T (p.Met873Leu)
c.2638A>T (p.Met880Leu)
n.2765A>T
c.2332A>T (p.Met778Leu)
c.2590A>T (p.Met864Leu)
c.2485A>T (p.Met829Leu)
c.817A>T (p.Met273Leu)
c.2431A>T (p.Met811Leu)
c.2509A>T (p.Met837Leu)
c.2260A>T (p.Met754Leu)
n.2445A>T
c.2491A>T (p.Met831Leu)
c.1417A>T (p.Met473Leu)
n.2472A>T
1g.151406418T>CCA341949965POGZc.2665A>G (p.Met889Val)
c.2458A>G (p.Met820Val)
c.2617A>G (p.Met873Val)
c.2638A>G (p.Met880Val)
n.2765A>G
c.2332A>G (p.Met778Val)
c.2590A>G (p.Met864Val)
c.2485A>G (p.Met829Val)
c.817A>G (p.Met273Val)
c.2431A>G (p.Met811Val)
c.2509A>G (p.Met837Val)
c.2260A>G (p.Met754Val)
n.2445A>G
c.2491A>G (p.Met831Val)
c.1417A>G (p.Met473Val)
n.2472A>G
 gnomAD v4
1g.151406418T>GCA341949969POGZc.2665A>C (p.Met889Leu)
c.2458A>C (p.Met820Leu)
c.2617A>C (p.Met873Leu)
c.2638A>C (p.Met880Leu)
n.2765A>C
c.2332A>C (p.Met778Leu)
c.2590A>C (p.Met864Leu)
c.2485A>C (p.Met829Leu)
c.817A>C (p.Met273Leu)
c.2431A>C (p.Met811Leu)
c.2509A>C (p.Met837Leu)
c.2260A>C (p.Met754Leu)
n.2445A>C
c.2491A>C (p.Met831Leu)
c.1417A>C (p.Met473Leu)
n.2472A>C
1g.151406418_151406419delinsTACA2479570655POGZc.2664_2665delinsTA (p.Asn888=)
c.2457_2458delinsTA (p.Asn819=)
c.2616_2617delinsTA (p.Asn872=)
c.2637_2638delinsTA (p.Asn879=)
n.2764_2765delinsTA
c.2331_2332delinsTA (p.Asn777=)
c.2589_2590delinsTA (p.Asn863=)
c.2484_2485delinsTA (p.Asn828=)
c.816_817delinsTA (p.Asn272=)
c.2430_2431delinsTA (p.Asn810=)
c.2508_2509delinsTA (p.Asn836=)
c.2259_2260delinsTA (p.Asn753=)
n.2444_2445delinsTA
c.2490_2491delinsTA (p.Asn830=)
c.1416_1417delinsTA (p.Asn472=)
n.2471_2472delinsTA
1g.151406419delCA16616970POGZc.2664del (p.Asn888LysfsTer16)
c.2457del (p.Asn819LysfsTer16)
c.2616del (p.Asn872LysfsTer16)
c.2637del (p.Asn879LysfsTer16)
n.2764del
c.2331del (p.Asn777LysfsTer16)
c.2589del (p.Asn863LysfsTer16)
c.2484del (p.Asn828LysfsTer16)
c.816del (p.Asn272LysfsTer16)
c.2430del (p.Asn810LysfsTer16)
c.2508del (p.Asn836LysfsTer16)
c.2259del (p.Asn753LysfsTer16)
n.2444del
c.2490del (p.Asn830LysfsTer16)
c.1416del (p.Asn472LysfsTer16)
n.2471del
 ClinVar dbSNP
1g.151406419A>CCA341949976POGZc.2664T>G (p.Asn888Lys)
c.2457T>G (p.Asn819Lys)
c.2616T>G (p.Asn872Lys)
c.2637T>G (p.Asn879Lys)
n.2764T>G
c.2331T>G (p.Asn777Lys)
c.2589T>G (p.Asn863Lys)
c.2484T>G (p.Asn828Lys)
c.816T>G (p.Asn272Lys)
c.2430T>G (p.Asn810Lys)
c.2508T>G (p.Asn836Lys)
c.2259T>G (p.Asn753Lys)
n.2444T>G
c.2490T>G (p.Asn830Lys)
c.1416T>G (p.Asn472Lys)
n.2471T>G
1g.151406419A>GCA420909865POGZc.2664T>C (p.Asn888=)
c.2457T>C (p.Asn819=)
c.2616T>C (p.Asn872=)
c.2637T>C (p.Asn879=)
n.2764T>C
c.2331T>C (p.Asn777=)
c.2589T>C (p.Asn863=)
c.2484T>C (p.Asn828=)
c.816T>C (p.Asn272=)
c.2430T>C (p.Asn810=)
c.2508T>C (p.Asn836=)
c.2259T>C (p.Asn753=)
n.2444T>C
c.2490T>C (p.Asn830=)
c.1416T>C (p.Asn472=)
n.2471T>C
1g.151406419A>TCA341949973POGZc.2664T>A (p.Asn888Lys)
c.2457T>A (p.Asn819Lys)
c.2616T>A (p.Asn872Lys)
c.2637T>A (p.Asn879Lys)
n.2764T>A
c.2331T>A (p.Asn777Lys)
c.2589T>A (p.Asn863Lys)
c.2484T>A (p.Asn828Lys)
c.816T>A (p.Asn272Lys)
c.2430T>A (p.Asn810Lys)
c.2508T>A (p.Asn836Lys)
c.2259T>A (p.Asn753Lys)
n.2444T>A
c.2490T>A (p.Asn830Lys)
c.1416T>A (p.Asn472Lys)
n.2471T>A
1g.151406420T>ACA341949980POGZc.2663A>T (p.Asn888Ile)
c.2456A>T (p.Asn819Ile)
c.2615A>T (p.Asn872Ile)
c.2636A>T (p.Asn879Ile)
n.2763A>T
c.2330A>T (p.Asn777Ile)
c.2588A>T (p.Asn863Ile)
c.2483A>T (p.Asn828Ile)
c.815A>T (p.Asn272Ile)
c.2429A>T (p.Asn810Ile)
c.2507A>T (p.Asn836Ile)
c.2258A>T (p.Asn753Ile)
n.2443A>T
c.2489A>T (p.Asn830Ile)
c.1415A>T (p.Asn472Ile)
n.2470A>T
1g.151406420T>CCA341949983POGZc.2663A>G (p.Asn888Ser)
c.2456A>G (p.Asn819Ser)
c.2615A>G (p.Asn872Ser)
c.2636A>G (p.Asn879Ser)
n.2763A>G
c.2330A>G (p.Asn777Ser)
c.2588A>G (p.Asn863Ser)
c.2483A>G (p.Asn828Ser)
c.815A>G (p.Asn272Ser)
c.2429A>G (p.Asn810Ser)
c.2507A>G (p.Asn836Ser)
c.2258A>G (p.Asn753Ser)
n.2443A>G
c.2489A>G (p.Asn830Ser)
c.1415A>G (p.Asn472Ser)
n.2470A>G
1g.151406420T>GCA341949986POGZc.2663A>C (p.Asn888Thr)
c.2456A>C (p.Asn819Thr)
c.2615A>C (p.Asn872Thr)
c.2636A>C (p.Asn879Thr)
n.2763A>C
c.2330A>C (p.Asn777Thr)
c.2588A>C (p.Asn863Thr)
c.2483A>C (p.Asn828Thr)
c.815A>C (p.Asn272Thr)
c.2429A>C (p.Asn810Thr)
c.2507A>C (p.Asn836Thr)
c.2258A>C (p.Asn753Thr)
n.2443A>C
c.2489A>C (p.Asn830Thr)
c.1415A>C (p.Asn472Thr)
n.2470A>C
1g.151406421T>ACA341949992POGZc.2662A>T (p.Asn888Tyr)
c.2455A>T (p.Asn819Tyr)
c.2614A>T (p.Asn872Tyr)
c.2635A>T (p.Asn879Tyr)
n.2762A>T
c.2329A>T (p.Asn777Tyr)
c.2587A>T (p.Asn863Tyr)
c.2482A>T (p.Asn828Tyr)
c.814A>T (p.Asn272Tyr)
c.2428A>T (p.Asn810Tyr)
c.2506A>T (p.Asn836Tyr)
c.2257A>T (p.Asn753Tyr)
n.2442A>T
c.2488A>T (p.Asn830Tyr)
c.1414A>T (p.Asn472Tyr)
n.2469A>T
1g.151406421T>CCA341949994POGZc.2662A>G (p.Asn888Asp)
c.2455A>G (p.Asn819Asp)
c.2614A>G (p.Asn872Asp)
c.2635A>G (p.Asn879Asp)
n.2762A>G
c.2329A>G (p.Asn777Asp)
c.2587A>G (p.Asn863Asp)
c.2482A>G (p.Asn828Asp)
c.814A>G (p.Asn272Asp)
c.2428A>G (p.Asn810Asp)
c.2506A>G (p.Asn836Asp)
c.2257A>G (p.Asn753Asp)
n.2442A>G
c.2488A>G (p.Asn830Asp)
c.1414A>G (p.Asn472Asp)
n.2469A>G
1g.151406421T>GCA341949999POGZc.2662A>C (p.Asn888His)
c.2455A>C (p.Asn819His)
c.2614A>C (p.Asn872His)
c.2635A>C (p.Asn879His)
n.2762A>C
c.2329A>C (p.Asn777His)
c.2587A>C (p.Asn863His)
c.2482A>C (p.Asn828His)
c.814A>C (p.Asn272His)
c.2428A>C (p.Asn810His)
c.2506A>C (p.Asn836His)
c.2257A>C (p.Asn753His)
n.2442A>C
c.2488A>C (p.Asn830His)
c.1414A>C (p.Asn472His)
n.2469A>C
1g.151406422C>ACA341950004POGZc.2661G>T (p.Lys887Asn)
c.2454G>T (p.Lys818Asn)
c.2613G>T (p.Lys871Asn)
c.2634G>T (p.Lys878Asn)
n.2761G>T
c.2328G>T (p.Lys776Asn)
c.2586G>T (p.Lys862Asn)
c.2481G>T (p.Lys827Asn)
c.813G>T (p.Lys271Asn)
c.2427G>T (p.Lys809Asn)
c.2505G>T (p.Lys835Asn)
c.2256G>T (p.Lys752Asn)
n.2441G>T
c.2487G>T (p.Lys829Asn)
c.1413G>T (p.Lys471Asn)
n.2468G>T
 dbSNP
1g.151406422C=CA2479570656POGZc.2661G= (p.Lys887=)
c.2454G= (p.Lys818=)
c.2613G= (p.Lys871=)
c.2634G= (p.Lys878=)
n.2761G=
c.2328G= (p.Lys776=)
c.2586G= (p.Lys862=)
c.2481G= (p.Lys827=)
c.813G= (p.Lys271=)
c.2427G= (p.Lys809=)
c.2505G= (p.Lys835=)
c.2256G= (p.Lys752=)
n.2441G=
c.2487G= (p.Lys829=)
c.1413G= (p.Lys471=)
n.2468G=
1g.151406422C>GCA341950007POGZc.2661G>C (p.Lys887Asn)
c.2454G>C (p.Lys818Asn)
c.2613G>C (p.Lys871Asn)
c.2634G>C (p.Lys878Asn)
n.2761G>C
c.2328G>C (p.Lys776Asn)
c.2586G>C (p.Lys862Asn)
c.2481G>C (p.Lys827Asn)
c.813G>C (p.Lys271Asn)
c.2427G>C (p.Lys809Asn)
c.2505G>C (p.Lys835Asn)
c.2256G>C (p.Lys752Asn)
n.2441G>C
c.2487G>C (p.Lys829Asn)
c.1413G>C (p.Lys471Asn)
n.2468G>C
1g.151406422C>TCA1091090POGZc.2661G>A (p.Lys887=)
c.2454G>A (p.Lys818=)
c.2613G>A (p.Lys871=)
c.2634G>A (p.Lys878=)
n.2761G>A
c.2328G>A (p.Lys776=)
c.2586G>A (p.Lys862=)
c.2481G>A (p.Lys827=)
c.813G>A (p.Lys271=)
c.2427G>A (p.Lys809=)
c.2505G>A (p.Lys835=)
c.2256G>A (p.Lys752=)
n.2441G>A
c.2487G>A (p.Lys829=)
c.1413G>A (p.Lys471=)
n.2468G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406423T>ACA341950012POGZc.2660A>T (p.Lys887Met)
c.2453A>T (p.Lys818Met)
c.2612A>T (p.Lys871Met)
c.2633A>T (p.Lys878Met)
n.2760A>T
c.2327A>T (p.Lys776Met)
c.2585A>T (p.Lys862Met)
c.2480A>T (p.Lys827Met)
c.812A>T (p.Lys271Met)
c.2426A>T (p.Lys809Met)
c.2504A>T (p.Lys835Met)
c.2255A>T (p.Lys752Met)
n.2440A>T
c.2486A>T (p.Lys829Met)
c.1412A>T (p.Lys471Met)
n.2467A>T
1g.151406423T>CCA341950014POGZc.2660A>G (p.Lys887Arg)
c.2453A>G (p.Lys818Arg)
c.2612A>G (p.Lys871Arg)
c.2633A>G (p.Lys878Arg)
n.2760A>G
c.2327A>G (p.Lys776Arg)
c.2585A>G (p.Lys862Arg)
c.2480A>G (p.Lys827Arg)
c.812A>G (p.Lys271Arg)
c.2426A>G (p.Lys809Arg)
c.2504A>G (p.Lys835Arg)
c.2255A>G (p.Lys752Arg)
n.2440A>G
c.2486A>G (p.Lys829Arg)
c.1412A>G (p.Lys471Arg)
n.2467A>G
1g.151406423T>GCA341950018POGZc.2660A>C (p.Lys887Thr)
c.2453A>C (p.Lys818Thr)
c.2612A>C (p.Lys871Thr)
c.2633A>C (p.Lys878Thr)
n.2760A>C
c.2327A>C (p.Lys776Thr)
c.2585A>C (p.Lys862Thr)
c.2480A>C (p.Lys827Thr)
c.812A>C (p.Lys271Thr)
c.2426A>C (p.Lys809Thr)
c.2504A>C (p.Lys835Thr)
c.2255A>C (p.Lys752Thr)
n.2440A>C
c.2486A>C (p.Lys829Thr)
c.1412A>C (p.Lys471Thr)
n.2467A>C
1g.151406424T>ACA341950029POGZc.2659A>T (p.Lys887Ter)
c.2452A>T (p.Lys818Ter)
c.2611A>T (p.Lys871Ter)
c.2632A>T (p.Lys878Ter)
n.2759A>T
c.2326A>T (p.Lys776Ter)
c.2584A>T (p.Lys862Ter)
c.2479A>T (p.Lys827Ter)
c.811A>T (p.Lys271Ter)
c.2425A>T (p.Lys809Ter)
c.2503A>T (p.Lys835Ter)
c.2254A>T (p.Lys752Ter)
n.2439A>T
c.2485A>T (p.Lys829Ter)
c.1411A>T (p.Lys471Ter)
n.2466A>T
1g.151406424T>CCA341950026POGZc.2659A>G (p.Lys887Glu)
c.2452A>G (p.Lys818Glu)
c.2611A>G (p.Lys871Glu)
c.2632A>G (p.Lys878Glu)
n.2759A>G
c.2326A>G (p.Lys776Glu)
c.2584A>G (p.Lys862Glu)
c.2479A>G (p.Lys827Glu)
c.811A>G (p.Lys271Glu)
c.2425A>G (p.Lys809Glu)
c.2503A>G (p.Lys835Glu)
c.2254A>G (p.Lys752Glu)
n.2439A>G
c.2485A>G (p.Lys829Glu)
c.1411A>G (p.Lys471Glu)
n.2466A>G
1g.151406424T>GCA341950022POGZc.2659A>C (p.Lys887Gln)
c.2452A>C (p.Lys818Gln)
c.2611A>C (p.Lys871Gln)
c.2632A>C (p.Lys878Gln)
n.2759A>C
c.2326A>C (p.Lys776Gln)
c.2584A>C (p.Lys862Gln)
c.2479A>C (p.Lys827Gln)
c.811A>C (p.Lys271Gln)
c.2425A>C (p.Lys809Gln)
c.2503A>C (p.Lys835Gln)
c.2254A>C (p.Lys752Gln)
n.2439A>C
c.2485A>C (p.Lys829Gln)
c.1411A>C (p.Lys471Gln)
n.2466A>C
1g.151406425C>ACA420909875POGZc.2658G>T (p.Val886=)
c.2451G>T (p.Val817=)
c.2610G>T (p.Val870=)
c.2631G>T (p.Val877=)
n.2758G>T
c.2325G>T (p.Val775=)
c.2583G>T (p.Val861=)
c.2478G>T (p.Val826=)
c.810G>T (p.Val270=)
c.2424G>T (p.Val808=)
c.2502G>T (p.Val834=)
c.2253G>T (p.Val751=)
n.2438G>T
c.2484G>T (p.Val828=)
c.1410G>T (p.Val470=)
n.2465G>T
 gnomAD v4
1g.151406425C=CA2479570657POGZc.2658G= (p.Val886=)
c.2451G= (p.Val817=)
c.2610G= (p.Val870=)
c.2631G= (p.Val877=)
n.2758G=
c.2325G= (p.Val775=)
c.2583G= (p.Val861=)
c.2478G= (p.Val826=)
c.810G= (p.Val270=)
c.2424G= (p.Val808=)
c.2502G= (p.Val834=)
c.2253G= (p.Val751=)
n.2438G=
c.2484G= (p.Val828=)
c.1410G= (p.Val470=)
n.2465G=
1g.151406425C>GCA420909876POGZc.2658G>C (p.Val886=)
c.2451G>C (p.Val817=)
c.2610G>C (p.Val870=)
c.2631G>C (p.Val877=)
n.2758G>C
c.2325G>C (p.Val775=)
c.2583G>C (p.Val861=)
c.2478G>C (p.Val826=)
c.810G>C (p.Val270=)
c.2424G>C (p.Val808=)
c.2502G>C (p.Val834=)
c.2253G>C (p.Val751=)
n.2438G>C
c.2484G>C (p.Val828=)
c.1410G>C (p.Val470=)
n.2465G>C
1g.151406425C>TCA420909877POGZc.2658G>A (p.Val886=)
c.2451G>A (p.Val817=)
c.2610G>A (p.Val870=)
c.2631G>A (p.Val877=)
n.2758G>A
c.2325G>A (p.Val775=)
c.2583G>A (p.Val861=)
c.2478G>A (p.Val826=)
c.810G>A (p.Val270=)
c.2424G>A (p.Val808=)
c.2502G>A (p.Val834=)
c.2253G>A (p.Val751=)
n.2438G>A
c.2484G>A (p.Val828=)
c.1410G>A (p.Val470=)
n.2465G>A
 dbSNP
1g.151406426A>CCA341950031POGZc.2657T>G (p.Val886Gly)
c.2450T>G (p.Val817Gly)
c.2609T>G (p.Val870Gly)
c.2630T>G (p.Val877Gly)
n.2757T>G
c.2324T>G (p.Val775Gly)
c.2582T>G (p.Val861Gly)
c.2477T>G (p.Val826Gly)
c.809T>G (p.Val270Gly)
c.2423T>G (p.Val808Gly)
c.2501T>G (p.Val834Gly)
c.2252T>G (p.Val751Gly)
n.2437T>G
c.2483T>G (p.Val828Gly)
c.1409T>G (p.Val470Gly)
n.2464T>G
1g.151406426A>GCA341950032POGZc.2657T>C (p.Val886Ala)
c.2450T>C (p.Val817Ala)
c.2609T>C (p.Val870Ala)
c.2630T>C (p.Val877Ala)
n.2757T>C
c.2324T>C (p.Val775Ala)
c.2582T>C (p.Val861Ala)
c.2477T>C (p.Val826Ala)
c.809T>C (p.Val270Ala)
c.2423T>C (p.Val808Ala)
c.2501T>C (p.Val834Ala)
c.2252T>C (p.Val751Ala)
n.2437T>C
c.2483T>C (p.Val828Ala)
c.1409T>C (p.Val470Ala)
n.2464T>C
1g.151406426A>TCA341950036POGZc.2657T>A (p.Val886Glu)
c.2450T>A (p.Val817Glu)
c.2609T>A (p.Val870Glu)
c.2630T>A (p.Val877Glu)
n.2757T>A
c.2324T>A (p.Val775Glu)
c.2582T>A (p.Val861Glu)
c.2477T>A (p.Val826Glu)
c.809T>A (p.Val270Glu)
c.2423T>A (p.Val808Glu)
c.2501T>A (p.Val834Glu)
c.2252T>A (p.Val751Glu)
n.2437T>A
c.2483T>A (p.Val828Glu)
c.1409T>A (p.Val470Glu)
n.2464T>A
1g.151406427C>ACA29569516POGZc.2656G>T (p.Val886Leu)
c.2449G>T (p.Val817Leu)
c.2608G>T (p.Val870Leu)
c.2629G>T (p.Val877Leu)
n.2756G>T
c.2323G>T (p.Val775Leu)
c.2581G>T (p.Val861Leu)
c.2476G>T (p.Val826Leu)
c.808G>T (p.Val270Leu)
c.2422G>T (p.Val808Leu)
c.2500G>T (p.Val834Leu)
c.2251G>T (p.Val751Leu)
n.2436G>T
c.2482G>T (p.Val828Leu)
c.1408G>T (p.Val470Leu)
n.2463G>T
 dbSNP gnomAD v4
1g.151406427C=CA2479570658POGZc.2656G= (p.Val886=)
c.2449G= (p.Val817=)
c.2608G= (p.Val870=)
c.2629G= (p.Val877=)
n.2756G=
c.2323G= (p.Val775=)
c.2581G= (p.Val861=)
c.2476G= (p.Val826=)
c.808G= (p.Val270=)
c.2422G= (p.Val808=)
c.2500G= (p.Val834=)
c.2251G= (p.Val751=)
n.2436G=
c.2482G= (p.Val828=)
c.1408G= (p.Val470=)
n.2463G=
1g.151406427C>GCA341950042POGZc.2656G>C (p.Val886Leu)
c.2449G>C (p.Val817Leu)
c.2608G>C (p.Val870Leu)
c.2629G>C (p.Val877Leu)
n.2756G>C
c.2323G>C (p.Val775Leu)
c.2581G>C (p.Val861Leu)
c.2476G>C (p.Val826Leu)
c.808G>C (p.Val270Leu)
c.2422G>C (p.Val808Leu)
c.2500G>C (p.Val834Leu)
c.2251G>C (p.Val751Leu)
n.2436G>C
c.2482G>C (p.Val828Leu)
c.1408G>C (p.Val470Leu)
n.2463G>C
1g.151406427C>TCA1091091POGZc.2656G>A (p.Val886Met)
c.2449G>A (p.Val817Met)
c.2608G>A (p.Val870Met)
c.2629G>A (p.Val877Met)
n.2756G>A
c.2323G>A (p.Val775Met)
c.2581G>A (p.Val861Met)
c.2476G>A (p.Val826Met)
c.808G>A (p.Val270Met)
c.2422G>A (p.Val808Met)
c.2500G>A (p.Val834Met)
c.2251G>A (p.Val751Met)
n.2436G>A
c.2482G>A (p.Val828Met)
c.1408G>A (p.Val470Met)
n.2463G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406428G>ACA420909887POGZc.2655C>T (p.Asn885=)
c.2448C>T (p.Asn816=)
c.2607C>T (p.Asn869=)
c.2628C>T (p.Asn876=)
n.2755C>T
c.2322C>T (p.Asn774=)
c.2580C>T (p.Asn860=)
c.2475C>T (p.Asn825=)
c.807C>T (p.Asn269=)
c.2421C>T (p.Asn807=)
c.2499C>T (p.Asn833=)
c.2250C>T (p.Asn750=)
n.2435C>T
c.2481C>T (p.Asn827=)
c.1407C>T (p.Asn469=)
n.2462C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406428G>CCA341950050POGZc.2655C>G (p.Asn885Lys)
c.2448C>G (p.Asn816Lys)
c.2607C>G (p.Asn869Lys)
c.2628C>G (p.Asn876Lys)
n.2755C>G
c.2322C>G (p.Asn774Lys)
c.2580C>G (p.Asn860Lys)
c.2475C>G (p.Asn825Lys)
c.807C>G (p.Asn269Lys)
c.2421C>G (p.Asn807Lys)
c.2499C>G (p.Asn833Lys)
c.2250C>G (p.Asn750Lys)
n.2435C>G
c.2481C>G (p.Asn827Lys)
c.1407C>G (p.Asn469Lys)
n.2462C>G
 gnomAD v4
1g.151406428G=CA2479570659POGZc.2655C= (p.Asn885=)
c.2448C= (p.Asn816=)
c.2607C= (p.Asn869=)
c.2628C= (p.Asn876=)
n.2755C=
c.2322C= (p.Asn774=)
c.2580C= (p.Asn860=)
c.2475C= (p.Asn825=)
c.807C= (p.Asn269=)
c.2421C= (p.Asn807=)
c.2499C= (p.Asn833=)
c.2250C= (p.Asn750=)
n.2435C=
c.2481C= (p.Asn827=)
c.1407C= (p.Asn469=)
n.2462C=
1g.151406428G>TCA341950053POGZc.2655C>A (p.Asn885Lys)
c.2448C>A (p.Asn816Lys)
c.2607C>A (p.Asn869Lys)
c.2628C>A (p.Asn876Lys)
n.2755C>A
c.2322C>A (p.Asn774Lys)
c.2580C>A (p.Asn860Lys)
c.2475C>A (p.Asn825Lys)
c.807C>A (p.Asn269Lys)
c.2421C>A (p.Asn807Lys)
c.2499C>A (p.Asn833Lys)
c.2250C>A (p.Asn750Lys)
n.2435C>A
c.2481C>A (p.Asn827Lys)
c.1407C>A (p.Asn469Lys)
n.2462C>A
1g.151406429T>ACA341950061POGZc.2654A>T (p.Asn885Ile)
c.2447A>T (p.Asn816Ile)
c.2606A>T (p.Asn869Ile)
c.2627A>T (p.Asn876Ile)
n.2754A>T
c.2321A>T (p.Asn774Ile)
c.2579A>T (p.Asn860Ile)
c.2474A>T (p.Asn825Ile)
c.806A>T (p.Asn269Ile)
c.2420A>T (p.Asn807Ile)
c.2498A>T (p.Asn833Ile)
c.2249A>T (p.Asn750Ile)
n.2434A>T
c.2480A>T (p.Asn827Ile)
c.1406A>T (p.Asn469Ile)
n.2461A>T
1g.151406429T>CCA1091092POGZc.2654A>G (p.Asn885Ser)
c.2447A>G (p.Asn816Ser)
c.2606A>G (p.Asn869Ser)
c.2627A>G (p.Asn876Ser)
n.2754A>G
c.2321A>G (p.Asn774Ser)
c.2579A>G (p.Asn860Ser)
c.2474A>G (p.Asn825Ser)
c.806A>G (p.Asn269Ser)
c.2420A>G (p.Asn807Ser)
c.2498A>G (p.Asn833Ser)
c.2249A>G (p.Asn750Ser)
n.2434A>G
c.2480A>G (p.Asn827Ser)
c.1406A>G (p.Asn469Ser)
n.2461A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406429T>GCA341950067POGZc.2654A>C (p.Asn885Thr)
c.2447A>C (p.Asn816Thr)
c.2606A>C (p.Asn869Thr)
c.2627A>C (p.Asn876Thr)
n.2754A>C
c.2321A>C (p.Asn774Thr)
c.2579A>C (p.Asn860Thr)
c.2474A>C (p.Asn825Thr)
c.806A>C (p.Asn269Thr)
c.2420A>C (p.Asn807Thr)
c.2498A>C (p.Asn833Thr)
c.2249A>C (p.Asn750Thr)
n.2434A>C
c.2480A>C (p.Asn827Thr)
c.1406A>C (p.Asn469Thr)
n.2461A>C
1g.151406429T=CA1147355804POGZc.2654A= (p.Asn885=)
c.2447A= (p.Asn816=)
c.2606A= (p.Asn869=)
c.2627A= (p.Asn876=)
n.2754A=
c.2321A= (p.Asn774=)
c.2579A= (p.Asn860=)
c.2474A= (p.Asn825=)
c.806A= (p.Asn269=)
c.2420A= (p.Asn807=)
c.2498A= (p.Asn833=)
c.2249A= (p.Asn750=)
n.2434A=
c.2480A= (p.Asn827=)
c.1406A= (p.Asn469=)
n.2461A=
1g.151406430T>ACA341950072POGZc.2653A>T (p.Asn885Tyr)
c.2446A>T (p.Asn816Tyr)
c.2605A>T (p.Asn869Tyr)
c.2626A>T (p.Asn876Tyr)
n.2753A>T
c.2320A>T (p.Asn774Tyr)
c.2578A>T (p.Asn860Tyr)
c.2473A>T (p.Asn825Tyr)
c.805A>T (p.Asn269Tyr)
c.2419A>T (p.Asn807Tyr)
c.2497A>T (p.Asn833Tyr)
c.2248A>T (p.Asn750Tyr)
n.2433A>T
c.2479A>T (p.Asn827Tyr)
c.1405A>T (p.Asn469Tyr)
n.2460A>T
1g.151406430T>CCA341950074POGZc.2653A>G (p.Asn885Asp)
c.2446A>G (p.Asn816Asp)
c.2605A>G (p.Asn869Asp)
c.2626A>G (p.Asn876Asp)
n.2753A>G
c.2320A>G (p.Asn774Asp)
c.2578A>G (p.Asn860Asp)
c.2473A>G (p.Asn825Asp)
c.805A>G (p.Asn269Asp)
c.2419A>G (p.Asn807Asp)
c.2497A>G (p.Asn833Asp)
c.2248A>G (p.Asn750Asp)
n.2433A>G
c.2479A>G (p.Asn827Asp)
c.1405A>G (p.Asn469Asp)
n.2460A>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406430T>GCA341950076POGZc.2653A>C (p.Asn885His)
c.2446A>C (p.Asn816His)
c.2605A>C (p.Asn869His)
c.2626A>C (p.Asn876His)
n.2753A>C
c.2320A>C (p.Asn774His)
c.2578A>C (p.Asn860His)
c.2473A>C (p.Asn825His)
c.805A>C (p.Asn269His)
c.2419A>C (p.Asn807His)
c.2497A>C (p.Asn833His)
c.2248A>C (p.Asn750His)
n.2433A>C
c.2479A>C (p.Asn827His)
c.1405A>C (p.Asn469His)
n.2460A>C
1g.151406430T=CA2479570660POGZc.2653A= (p.Asn885=)
c.2446A= (p.Asn816=)
c.2605A= (p.Asn869=)
c.2626A= (p.Asn876=)
n.2753A=
c.2320A= (p.Asn774=)
c.2578A= (p.Asn860=)
c.2473A= (p.Asn825=)
c.805A= (p.Asn269=)
c.2419A= (p.Asn807=)
c.2497A= (p.Asn833=)
c.2248A= (p.Asn750=)
n.2433A=
c.2479A= (p.Asn827=)
c.1405A= (p.Asn469=)
n.2460A=
1g.151406430_151406431delinsTCCA2479570661POGZc.2652_2653delinsGA (p.Arg884=)
c.2445_2446delinsGA (p.Arg815=)
c.2604_2605delinsGA (p.Arg868=)
c.2625_2626delinsGA (p.Arg875=)
n.2752_2753delinsGA
c.2319_2320delinsGA (p.Arg773=)
c.2577_2578delinsGA (p.Arg859=)
c.2472_2473delinsGA (p.Arg824=)
c.804_805delinsGA (p.Arg268=)
c.2418_2419delinsGA (p.Arg806=)
c.2496_2497delinsGA (p.Arg832=)
c.2247_2248delinsGA (p.Arg749=)
n.2432_2433delinsGA
c.2478_2479delinsGA (p.Arg826=)
c.1404_1405delinsGA (p.Arg468=)
n.2459_2460delinsGA
1g.151406431C>ACA420909896POGZc.2652G>T (p.Arg884=)
c.2445G>T (p.Arg815=)
c.2604G>T (p.Arg868=)
c.2625G>T (p.Arg875=)
n.2752G>T
c.2319G>T (p.Arg773=)
c.2577G>T (p.Arg859=)
c.2472G>T (p.Arg824=)
c.804G>T (p.Arg268=)
c.2418G>T (p.Arg806=)
c.2496G>T (p.Arg832=)
c.2247G>T (p.Arg749=)
n.2432G>T
c.2478G>T (p.Arg826=)
c.1404G>T (p.Arg468=)
n.2459G>T
 gnomAD v4
1g.151406431C=CA2479570662POGZc.2652G= (p.Arg884=)
c.2445G= (p.Arg815=)
c.2604G= (p.Arg868=)
c.2625G= (p.Arg875=)
n.2752G=
c.2319G= (p.Arg773=)
c.2577G= (p.Arg859=)
c.2472G= (p.Arg824=)
c.804G= (p.Arg268=)
c.2418G= (p.Arg806=)
c.2496G= (p.Arg832=)
c.2247G= (p.Arg749=)
n.2432G=
c.2478G= (p.Arg826=)
c.1404G= (p.Arg468=)
n.2459G=
1g.151406431C>GCA1091093POGZc.2652G>C (p.Arg884=)
c.2445G>C (p.Arg815=)
c.2604G>C (p.Arg868=)
c.2625G>C (p.Arg875=)
n.2752G>C
c.2319G>C (p.Arg773=)
c.2577G>C (p.Arg859=)
c.2472G>C (p.Arg824=)
c.804G>C (p.Arg268=)
c.2418G>C (p.Arg806=)
c.2496G>C (p.Arg832=)
c.2247G>C (p.Arg749=)
n.2432G>C
c.2478G>C (p.Arg826=)
c.1404G>C (p.Arg468=)
n.2459G>C
 dbSNP ExAC gnomAD v2
1g.151406431C>TCA420909899POGZc.2652G>A (p.Arg884=)
c.2445G>A (p.Arg815=)
c.2604G>A (p.Arg868=)
c.2625G>A (p.Arg875=)
n.2752G>A
c.2319G>A (p.Arg773=)
c.2577G>A (p.Arg859=)
c.2472G>A (p.Arg824=)
c.804G>A (p.Arg268=)
c.2418G>A (p.Arg806=)
c.2496G>A (p.Arg832=)
c.2247G>A (p.Arg749=)
n.2432G>A
c.2478G>A (p.Arg826=)
c.1404G>A (p.Arg468=)
n.2459G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406432delCA645372442POGZc.2652del (p.Asn885ThrfsTer2)
c.2445del (p.Asn816ThrfsTer2)
c.2604del (p.Asn869ThrfsTer2)
c.2625del (p.Asn876ThrfsTer2)
n.2752del
c.2319del (p.Asn774ThrfsTer2)
c.2577del (p.Asn860ThrfsTer2)
c.2472del (p.Asn825ThrfsTer2)
c.804del (p.Asn269ThrfsTer2)
c.2418del (p.Asn807ThrfsTer2)
c.2496del (p.Asn833ThrfsTer2)
c.2247del (p.Asn750ThrfsTer2)
n.2432del
c.2478del (p.Asn827ThrfsTer2)
c.1404del (p.Asn469ThrfsTer2)
n.2459del
 ClinVar dbSNP
1g.151406432C>ACA341950087POGZc.2651G>T (p.Arg884Leu)
c.2444G>T (p.Arg815Leu)
c.2603G>T (p.Arg868Leu)
c.2624G>T (p.Arg875Leu)
n.2751G>T
c.2318G>T (p.Arg773Leu)
c.2576G>T (p.Arg859Leu)
c.2471G>T (p.Arg824Leu)
c.803G>T (p.Arg268Leu)
c.2417G>T (p.Arg806Leu)
c.2495G>T (p.Arg832Leu)
c.2246G>T (p.Arg749Leu)
n.2431G>T
c.2477G>T (p.Arg826Leu)
c.1403G>T (p.Arg468Leu)
n.2458G>T
 gnomAD v4
1g.151406432C=CA1143434096POGZc.2651G= (p.Arg884=)
c.2444G= (p.Arg815=)
c.2603G= (p.Arg868=)
c.2624G= (p.Arg875=)
n.2751G=
c.2318G= (p.Arg773=)
c.2576G= (p.Arg859=)
c.2471G= (p.Arg824=)
c.803G= (p.Arg268=)
c.2417G= (p.Arg806=)
c.2495G= (p.Arg832=)
c.2246G= (p.Arg749=)
n.2431G=
c.2477G= (p.Arg826=)
c.1403G= (p.Arg468=)
n.2458G=
1g.151406432C>GCA341950089POGZc.2651G>C (p.Arg884Pro)
c.2444G>C (p.Arg815Pro)
c.2603G>C (p.Arg868Pro)
c.2624G>C (p.Arg875Pro)
n.2751G>C
c.2318G>C (p.Arg773Pro)
c.2576G>C (p.Arg859Pro)
c.2471G>C (p.Arg824Pro)
c.803G>C (p.Arg268Pro)
c.2417G>C (p.Arg806Pro)
c.2495G>C (p.Arg832Pro)
c.2246G>C (p.Arg749Pro)
n.2431G>C
c.2477G>C (p.Arg826Pro)
c.1403G>C (p.Arg468Pro)
n.2458G>C
1g.151406432C>TCA1091094POGZc.2651G>A (p.Arg884Gln)
c.2444G>A (p.Arg815Gln)
c.2603G>A (p.Arg868Gln)
c.2624G>A (p.Arg875Gln)
n.2751G>A
c.2318G>A (p.Arg773Gln)
c.2576G>A (p.Arg859Gln)
c.2471G>A (p.Arg824Gln)
c.803G>A (p.Arg268Gln)
c.2417G>A (p.Arg806Gln)
c.2495G>A (p.Arg832Gln)
c.2246G>A (p.Arg749Gln)
n.2431G>A
c.2477G>A (p.Arg826Gln)
c.1403G>A (p.Arg468Gln)
n.2458G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406433G>ACA1091095POGZc.2650C>T (p.Arg884Trp)
c.2443C>T (p.Arg815Trp)
c.2602C>T (p.Arg868Trp)
c.2623C>T (p.Arg875Trp)
n.2750C>T
c.2317C>T (p.Arg773Trp)
c.2575C>T (p.Arg859Trp)
c.2470C>T (p.Arg824Trp)
c.802C>T (p.Arg268Trp)
c.2416C>T (p.Arg806Trp)
c.2494C>T (p.Arg832Trp)
c.2245C>T (p.Arg749Trp)
n.2430C>T
c.2476C>T (p.Arg826Trp)
c.1402C>T (p.Arg468Trp)
n.2457C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406433G>CCA341950095POGZc.2650C>G (p.Arg884Gly)
c.2443C>G (p.Arg815Gly)
c.2602C>G (p.Arg868Gly)
c.2623C>G (p.Arg875Gly)
n.2750C>G
c.2317C>G (p.Arg773Gly)
c.2575C>G (p.Arg859Gly)
c.2470C>G (p.Arg824Gly)
c.802C>G (p.Arg268Gly)
c.2416C>G (p.Arg806Gly)
c.2494C>G (p.Arg832Gly)
c.2245C>G (p.Arg749Gly)
n.2430C>G
c.2476C>G (p.Arg826Gly)
c.1402C>G (p.Arg468Gly)
n.2457C>G
1g.151406433G=CA2479570663POGZc.2650C= (p.Arg884=)
c.2443C= (p.Arg815=)
c.2602C= (p.Arg868=)
c.2623C= (p.Arg875=)
n.2750C=
c.2317C= (p.Arg773=)
c.2575C= (p.Arg859=)
c.2470C= (p.Arg824=)
c.802C= (p.Arg268=)
c.2416C= (p.Arg806=)
c.2494C= (p.Arg832=)
c.2245C= (p.Arg749=)
n.2430C=
c.2476C= (p.Arg826=)
c.1402C= (p.Arg468=)
n.2457C=
1g.151406433G>TCA420909900POGZc.2650C>A (p.Arg884=)
c.2443C>A (p.Arg815=)
c.2602C>A (p.Arg868=)
c.2623C>A (p.Arg875=)
n.2750C>A
c.2317C>A (p.Arg773=)
c.2575C>A (p.Arg859=)
c.2470C>A (p.Arg824=)
c.802C>A (p.Arg268=)
c.2416C>A (p.Arg806=)
c.2494C>A (p.Arg832=)
c.2245C>A (p.Arg749=)
n.2430C>A
c.2476C>A (p.Arg826=)
c.1402C>A (p.Arg468=)
n.2457C>A
1g.151406434G>ACA420909905POGZc.2649C>T (p.Asp883=)
c.2442C>T (p.Asp814=)
c.2601C>T (p.Asp867=)
c.2622C>T (p.Asp874=)
n.2749C>T
c.2316C>T (p.Asp772=)
c.2574C>T (p.Asp858=)
c.2469C>T (p.Asp823=)
c.801C>T (p.Asp267=)
c.2415C>T (p.Asp805=)
c.2493C>T (p.Asp831=)
c.2244C>T (p.Asp748=)
n.2429C>T
c.2475C>T (p.Asp825=)
c.1401C>T (p.Asp467=)
n.2456C>T
1g.151406434G>CCA341950101POGZc.2649C>G (p.Asp883Glu)
c.2442C>G (p.Asp814Glu)
c.2601C>G (p.Asp867Glu)
c.2622C>G (p.Asp874Glu)
n.2749C>G
c.2316C>G (p.Asp772Glu)
c.2574C>G (p.Asp858Glu)
c.2469C>G (p.Asp823Glu)
c.801C>G (p.Asp267Glu)
c.2415C>G (p.Asp805Glu)
c.2493C>G (p.Asp831Glu)
c.2244C>G (p.Asp748Glu)
n.2429C>G
c.2475C>G (p.Asp825Glu)
c.1401C>G (p.Asp467Glu)
n.2456C>G
1g.151406434G>TCA341950103POGZc.2649C>A (p.Asp883Glu)
c.2442C>A (p.Asp814Glu)
c.2601C>A (p.Asp867Glu)
c.2622C>A (p.Asp874Glu)
n.2749C>A
c.2316C>A (p.Asp772Glu)
c.2574C>A (p.Asp858Glu)
c.2469C>A (p.Asp823Glu)
c.801C>A (p.Asp267Glu)
c.2415C>A (p.Asp805Glu)
c.2493C>A (p.Asp831Glu)
c.2244C>A (p.Asp748Glu)
n.2429C>A
c.2475C>A (p.Asp825Glu)
c.1401C>A (p.Asp467Glu)
n.2456C>A
1g.151406435T>ACA341950110POGZc.2648A>T (p.Asp883Val)
c.2441A>T (p.Asp814Val)
c.2600A>T (p.Asp867Val)
c.2621A>T (p.Asp874Val)
n.2748A>T
c.2315A>T (p.Asp772Val)
c.2573A>T (p.Asp858Val)
c.2468A>T (p.Asp823Val)
c.800A>T (p.Asp267Val)
c.2414A>T (p.Asp805Val)
c.2492A>T (p.Asp831Val)
c.2243A>T (p.Asp748Val)
n.2428A>T
c.2474A>T (p.Asp825Val)
c.1400A>T (p.Asp467Val)
n.2455A>T
1g.151406435T>CCA341950113POGZc.2648A>G (p.Asp883Gly)
c.2441A>G (p.Asp814Gly)
c.2600A>G (p.Asp867Gly)
c.2621A>G (p.Asp874Gly)
n.2748A>G
c.2315A>G (p.Asp772Gly)
c.2573A>G (p.Asp858Gly)
c.2468A>G (p.Asp823Gly)
c.800A>G (p.Asp267Gly)
c.2414A>G (p.Asp805Gly)
c.2492A>G (p.Asp831Gly)
c.2243A>G (p.Asp748Gly)
n.2428A>G
c.2474A>G (p.Asp825Gly)
c.1400A>G (p.Asp467Gly)
n.2455A>G
 gnomAD v4
1g.151406435T>GCA341950115POGZc.2648A>C (p.Asp883Ala)
c.2441A>C (p.Asp814Ala)
c.2600A>C (p.Asp867Ala)
c.2621A>C (p.Asp874Ala)
n.2748A>C
c.2315A>C (p.Asp772Ala)
c.2573A>C (p.Asp858Ala)
c.2468A>C (p.Asp823Ala)
c.800A>C (p.Asp267Ala)
c.2414A>C (p.Asp805Ala)
c.2492A>C (p.Asp831Ala)
c.2243A>C (p.Asp748Ala)
n.2428A>C
c.2474A>C (p.Asp825Ala)
c.1400A>C (p.Asp467Ala)
n.2455A>C
1g.151406435_151406459delinsTCATGCACTCGGTCACGAGTCTGGCCA2479570664POGZc.2624_2648delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly875=)
c.2417_2441delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly806=)
c.2576_2600delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly859=)
c.2597_2621delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly866=)
n.2724_2748delinsGCCAGACTCGTGACCGAGTGCATGA
c.2291_2315delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly764=)
c.2549_2573delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly850=)
c.2444_2468delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly815=)
c.776_800delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly259=)
c.2390_2414delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly797=)
c.2468_2492delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly823=)
c.2219_2243delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly740=)
n.2404_2428delinsGCCAGACTCGTGACCGAGTGCATGA
c.2450_2474delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly817=)
c.1376_1400delinsGCCAGACTCGTGACCGAGTGCATGA (p.Gly459=)
n.2431_2455delinsGCCAGACTCGTGACCGAGTGCATGA
1g.151406436C>ACA341950119POGZc.2647G>T (p.Asp883Tyr)
c.2440G>T (p.Asp814Tyr)
c.2599G>T (p.Asp867Tyr)
c.2620G>T (p.Asp874Tyr)
n.2747G>T
c.2314G>T (p.Asp772Tyr)
c.2572G>T (p.Asp858Tyr)
c.2467G>T (p.Asp823Tyr)
c.799G>T (p.Asp267Tyr)
c.2413G>T (p.Asp805Tyr)
c.2491G>T (p.Asp831Tyr)
c.2242G>T (p.Asp748Tyr)
n.2427G>T
c.2473G>T (p.Asp825Tyr)
c.1399G>T (p.Asp467Tyr)
n.2454G>T
 gnomAD v4
1g.151406436C>GCA341950122POGZc.2647G>C (p.Asp883His)
c.2440G>C (p.Asp814His)
c.2599G>C (p.Asp867His)
c.2620G>C (p.Asp874His)
n.2747G>C
c.2314G>C (p.Asp772His)
c.2572G>C (p.Asp858His)
c.2467G>C (p.Asp823His)
c.799G>C (p.Asp267His)
c.2413G>C (p.Asp805His)
c.2491G>C (p.Asp831His)
c.2242G>C (p.Asp748His)
n.2427G>C
c.2473G>C (p.Asp825His)
c.1399G>C (p.Asp467His)
n.2454G>C
1g.151406436C>TCA341950125POGZc.2647G>A (p.Asp883Asn)
c.2440G>A (p.Asp814Asn)
c.2599G>A (p.Asp867Asn)
c.2620G>A (p.Asp874Asn)
n.2747G>A
c.2314G>A (p.Asp772Asn)
c.2572G>A (p.Asp858Asn)
c.2467G>A (p.Asp823Asn)
c.799G>A (p.Asp267Asn)
c.2413G>A (p.Asp805Asn)
c.2491G>A (p.Asp831Asn)
c.2242G>A (p.Asp748Asn)
n.2427G>A
c.2473G>A (p.Asp825Asn)
c.1399G>A (p.Asp467Asn)
n.2454G>A
 gnomAD v4
1g.151406441_151406464delCA2479570665POGZc.2624_2647del (p.Gly875_His882del)
c.2417_2440del (p.Gly806_His813del)
c.2576_2599del (p.Gly859_His866del)
c.2597_2620del (p.Gly866_His873del)
n.2724_2747del
c.2291_2314del (p.Gly764_His771del)
c.2549_2572del (p.Gly850_His857del)
c.2444_2467del (p.Gly815_His822del)
c.776_799del (p.Gly259_His266del)
c.2390_2413del (p.Gly797_His804del)
c.2468_2491del (p.Gly823_His830del)
c.2219_2242del (p.Gly740_His747del)
n.2404_2427del
c.2450_2473del (p.Gly817_His824del)
c.1376_1399del (p.Gly459_His466del)
n.2431_2454del
 ClinVar dbSNP gnomAD v4
1g.151406437A>CCA341950128POGZc.2646T>G (p.His882Gln)
c.2439T>G (p.His813Gln)
c.2598T>G (p.His866Gln)
c.2619T>G (p.His873Gln)
n.2746T>G
c.2313T>G (p.His771Gln)
c.2571T>G (p.His857Gln)
c.2466T>G (p.His822Gln)
c.798T>G (p.His266Gln)
c.2412T>G (p.His804Gln)
c.2490T>G (p.His830Gln)
c.2241T>G (p.His747Gln)
n.2426T>G
c.2472T>G (p.His824Gln)
c.1398T>G (p.His466Gln)
n.2453T>G
1g.151406437A>GCA420909911POGZc.2646T>C (p.His882=)
c.2439T>C (p.His813=)
c.2598T>C (p.His866=)
c.2619T>C (p.His873=)
n.2746T>C
c.2313T>C (p.His771=)
c.2571T>C (p.His857=)
c.2466T>C (p.His822=)
c.798T>C (p.His266=)
c.2412T>C (p.His804=)
c.2490T>C (p.His830=)
c.2241T>C (p.His747=)
n.2426T>C
c.2472T>C (p.His824=)
c.1398T>C (p.His466=)
n.2453T>C
1g.151406437A>TCA341950132POGZc.2646T>A (p.His882Gln)
c.2439T>A (p.His813Gln)
c.2598T>A (p.His866Gln)
c.2619T>A (p.His873Gln)
n.2746T>A
c.2313T>A (p.His771Gln)
c.2571T>A (p.His857Gln)
c.2466T>A (p.His822Gln)
c.798T>A (p.His266Gln)
c.2412T>A (p.His804Gln)
c.2490T>A (p.His830Gln)
c.2241T>A (p.His747Gln)
n.2426T>A
c.2472T>A (p.His824Gln)
c.1398T>A (p.His466Gln)
n.2453T>A
1g.151406438T>ACA341950137POGZc.2645A>T (p.His882Leu)
c.2438A>T (p.His813Leu)
c.2597A>T (p.His866Leu)
c.2618A>T (p.His873Leu)
n.2745A>T
c.2312A>T (p.His771Leu)
c.2570A>T (p.His857Leu)
c.2465A>T (p.His822Leu)
c.797A>T (p.His266Leu)
c.2411A>T (p.His804Leu)
c.2489A>T (p.His830Leu)
c.2240A>T (p.His747Leu)
n.2425A>T
c.2471A>T (p.His824Leu)
c.1397A>T (p.His466Leu)
n.2452A>T
1g.151406438T>CCA1091096POGZc.2645A>G (p.His882Arg)
c.2438A>G (p.His813Arg)
c.2597A>G (p.His866Arg)
c.2618A>G (p.His873Arg)
n.2745A>G
c.2312A>G (p.His771Arg)
c.2570A>G (p.His857Arg)
c.2465A>G (p.His822Arg)
c.797A>G (p.His266Arg)
c.2411A>G (p.His804Arg)
c.2489A>G (p.His830Arg)
c.2240A>G (p.His747Arg)
n.2425A>G
c.2471A>G (p.His824Arg)
c.1397A>G (p.His466Arg)
n.2452A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406438T>GCA341950140POGZc.2645A>C (p.His882Pro)
c.2438A>C (p.His813Pro)
c.2597A>C (p.His866Pro)
c.2618A>C (p.His873Pro)
n.2745A>C
c.2312A>C (p.His771Pro)
c.2570A>C (p.His857Pro)
c.2465A>C (p.His822Pro)
c.797A>C (p.His266Pro)
c.2411A>C (p.His804Pro)
c.2489A>C (p.His830Pro)
c.2240A>C (p.His747Pro)
n.2425A>C
c.2471A>C (p.His824Pro)
c.1397A>C (p.His466Pro)
n.2452A>C
1g.151406438T=CA2479570666POGZc.2645A= (p.His882=)
c.2438A= (p.His813=)
c.2597A= (p.His866=)
c.2618A= (p.His873=)
n.2745A=
c.2312A= (p.His771=)
c.2570A= (p.His857=)
c.2465A= (p.His822=)
c.797A= (p.His266=)
c.2411A= (p.His804=)
c.2489A= (p.His830=)
c.2240A= (p.His747=)
n.2425A=
c.2471A= (p.His824=)
c.1397A= (p.His466=)
n.2452A=
1g.151406439G>ACA341950146POGZc.2644C>T (p.His882Tyr)
c.2437C>T (p.His813Tyr)
c.2596C>T (p.His866Tyr)
c.2617C>T (p.His873Tyr)
n.2744C>T
c.2311C>T (p.His771Tyr)
c.2569C>T (p.His857Tyr)
c.2464C>T (p.His822Tyr)
c.796C>T (p.His266Tyr)
c.2410C>T (p.His804Tyr)
c.2488C>T (p.His830Tyr)
c.2239C>T (p.His747Tyr)
n.2424C>T
c.2470C>T (p.His824Tyr)
c.1396C>T (p.His466Tyr)
n.2451C>T
1g.151406439G>CCA341950151POGZc.2644C>G (p.His882Asp)
c.2437C>G (p.His813Asp)
c.2596C>G (p.His866Asp)
c.2617C>G (p.His873Asp)
n.2744C>G
c.2311C>G (p.His771Asp)
c.2569C>G (p.His857Asp)
c.2464C>G (p.His822Asp)
c.796C>G (p.His266Asp)
c.2410C>G (p.His804Asp)
c.2488C>G (p.His830Asp)
c.2239C>G (p.His747Asp)
n.2424C>G
c.2470C>G (p.His824Asp)
c.1396C>G (p.His466Asp)
n.2451C>G
1g.151406439G>TCA341950149POGZc.2644C>A (p.His882Asn)
c.2437C>A (p.His813Asn)
c.2596C>A (p.His866Asn)
c.2617C>A (p.His873Asn)
n.2744C>A
c.2311C>A (p.His771Asn)
c.2569C>A (p.His857Asn)
c.2464C>A (p.His822Asn)
c.796C>A (p.His266Asn)
c.2410C>A (p.His804Asn)
c.2488C>A (p.His830Asn)
c.2239C>A (p.His747Asn)
n.2424C>A
c.2470C>A (p.His824Asn)
c.1396C>A (p.His466Asn)
n.2451C>A
1g.151406440C>ACA420909916POGZc.2643G>T (p.Val881=)
c.2436G>T (p.Val812=)
c.2595G>T (p.Val865=)
c.2616G>T (p.Val872=)
n.2743G>T
c.2310G>T (p.Val770=)
c.2568G>T (p.Val856=)
c.2463G>T (p.Val821=)
c.795G>T (p.Val265=)
c.2409G>T (p.Val803=)
c.2487G>T (p.Val829=)
c.2238G>T (p.Val746=)
n.2423G>T
c.2469G>T (p.Val823=)
c.1395G>T (p.Val465=)
n.2450G>T
1g.151406440C=CA2479570667POGZc.2643G= (p.Val881=)
c.2436G= (p.Val812=)
c.2595G= (p.Val865=)
c.2616G= (p.Val872=)
n.2743G=
c.2310G= (p.Val770=)
c.2568G= (p.Val856=)
c.2463G= (p.Val821=)
c.795G= (p.Val265=)
c.2409G= (p.Val803=)
c.2487G= (p.Val829=)
c.2238G= (p.Val746=)
n.2423G=
c.2469G= (p.Val823=)
c.1395G= (p.Val465=)
n.2450G=
1g.151406440C>GCA420909917POGZc.2643G>C (p.Val881=)
c.2436G>C (p.Val812=)
c.2595G>C (p.Val865=)
c.2616G>C (p.Val872=)
n.2743G>C
c.2310G>C (p.Val770=)
c.2568G>C (p.Val856=)
c.2463G>C (p.Val821=)
c.795G>C (p.Val265=)
c.2409G>C (p.Val803=)
c.2487G>C (p.Val829=)
c.2238G>C (p.Val746=)
n.2423G>C
c.2469G>C (p.Val823=)
c.1395G>C (p.Val465=)
n.2450G>C
1g.151406440C>TCA420909918POGZc.2643G>A (p.Val881=)
c.2436G>A (p.Val812=)
c.2595G>A (p.Val865=)
c.2616G>A (p.Val872=)
n.2743G>A
c.2310G>A (p.Val770=)
c.2568G>A (p.Val856=)
c.2463G>A (p.Val821=)
c.795G>A (p.Val265=)
c.2409G>A (p.Val803=)
c.2487G>A (p.Val829=)
c.2238G>A (p.Val746=)
n.2423G>A
c.2469G>A (p.Val823=)
c.1395G>A (p.Val465=)
n.2450G>A
 dbSNP
1g.151406441A>CCA341950157POGZc.2642T>G (p.Val881Gly)
c.2435T>G (p.Val812Gly)
c.2594T>G (p.Val865Gly)
c.2615T>G (p.Val872Gly)
n.2742T>G
c.2309T>G (p.Val770Gly)
c.2567T>G (p.Val856Gly)
c.2462T>G (p.Val821Gly)
c.794T>G (p.Val265Gly)
c.2408T>G (p.Val803Gly)
c.2486T>G (p.Val829Gly)
c.2237T>G (p.Val746Gly)
n.2422T>G
c.2468T>G (p.Val823Gly)
c.1394T>G (p.Val465Gly)
n.2449T>G
1g.151406441A>GCA341950160POGZc.2642T>C (p.Val881Ala)
c.2435T>C (p.Val812Ala)
c.2594T>C (p.Val865Ala)
c.2615T>C (p.Val872Ala)
n.2742T>C
c.2309T>C (p.Val770Ala)
c.2567T>C (p.Val856Ala)
c.2462T>C (p.Val821Ala)
c.794T>C (p.Val265Ala)
c.2408T>C (p.Val803Ala)
c.2486T>C (p.Val829Ala)
c.2237T>C (p.Val746Ala)
n.2422T>C
c.2468T>C (p.Val823Ala)
c.1394T>C (p.Val465Ala)
n.2449T>C
 gnomAD v4
1g.151406441A>TCA341950163POGZc.2642T>A (p.Val881Glu)
c.2435T>A (p.Val812Glu)
c.2594T>A (p.Val865Glu)
c.2615T>A (p.Val872Glu)
n.2742T>A
c.2309T>A (p.Val770Glu)
c.2567T>A (p.Val856Glu)
c.2462T>A (p.Val821Glu)
c.794T>A (p.Val265Glu)
c.2408T>A (p.Val803Glu)
c.2486T>A (p.Val829Glu)
c.2237T>A (p.Val746Glu)
n.2422T>A
c.2468T>A (p.Val823Glu)
c.1394T>A (p.Val465Glu)
n.2449T>A
1g.151406442C>ACA341950167POGZc.2641G>T (p.Val881Leu)
c.2434G>T (p.Val812Leu)
c.2593G>T (p.Val865Leu)
c.2614G>T (p.Val872Leu)
n.2741G>T
c.2308G>T (p.Val770Leu)
c.2566G>T (p.Val856Leu)
c.2461G>T (p.Val821Leu)
c.793G>T (p.Val265Leu)
c.2407G>T (p.Val803Leu)
c.2485G>T (p.Val829Leu)
c.2236G>T (p.Val746Leu)
n.2421G>T
c.2467G>T (p.Val823Leu)
c.1393G>T (p.Val465Leu)
n.2448G>T
1g.151406442C=CA2479570668POGZc.2641G= (p.Val881=)
c.2434G= (p.Val812=)
c.2593G= (p.Val865=)
c.2614G= (p.Val872=)
n.2741G=
c.2308G= (p.Val770=)
c.2566G= (p.Val856=)
c.2461G= (p.Val821=)
c.793G= (p.Val265=)
c.2407G= (p.Val803=)
c.2485G= (p.Val829=)
c.2236G= (p.Val746=)
n.2421G=
c.2467G= (p.Val823=)
c.1393G= (p.Val465=)
n.2448G=
1g.151406442C>GCA341950170POGZc.2641G>C (p.Val881Leu)
c.2434G>C (p.Val812Leu)
c.2593G>C (p.Val865Leu)
c.2614G>C (p.Val872Leu)
n.2741G>C
c.2308G>C (p.Val770Leu)
c.2566G>C (p.Val856Leu)
c.2461G>C (p.Val821Leu)
c.793G>C (p.Val265Leu)
c.2407G>C (p.Val803Leu)
c.2485G>C (p.Val829Leu)
c.2236G>C (p.Val746Leu)
n.2421G>C
c.2467G>C (p.Val823Leu)
c.1393G>C (p.Val465Leu)
n.2448G>C
1g.151406442C>TCA341950174POGZc.2641G>A (p.Val881Met)
c.2434G>A (p.Val812Met)
c.2593G>A (p.Val865Met)
c.2614G>A (p.Val872Met)
n.2741G>A
c.2308G>A (p.Val770Met)
c.2566G>A (p.Val856Met)
c.2461G>A (p.Val821Met)
c.793G>A (p.Val265Met)
c.2407G>A (p.Val803Met)
c.2485G>A (p.Val829Met)
c.2236G>A (p.Val746Met)
n.2421G>A
c.2467G>A (p.Val823Met)
c.1393G>A (p.Val465Met)
n.2448G>A
 dbSNP gnomAD v3 gnomAD v4
1g.151406443T>ACA420909923POGZc.2640A>T (p.Arg880=)
c.2433A>T (p.Arg811=)
c.2592A>T (p.Arg864=)
c.2613A>T (p.Arg871=)
n.2740A>T
c.2307A>T (p.Arg769=)
c.2565A>T (p.Arg855=)
c.2460A>T (p.Arg820=)
c.792A>T (p.Arg264=)
c.2406A>T (p.Arg802=)
c.2484A>T (p.Arg828=)
c.2235A>T (p.Arg745=)
n.2420A>T
c.2466A>T (p.Arg822=)
c.1392A>T (p.Arg464=)
n.2447A>T
1g.151406443T>CCA420909922POGZc.2640A>G (p.Arg880=)
c.2433A>G (p.Arg811=)
c.2592A>G (p.Arg864=)
c.2613A>G (p.Arg871=)
n.2740A>G
c.2307A>G (p.Arg769=)
c.2565A>G (p.Arg855=)
c.2460A>G (p.Arg820=)
c.792A>G (p.Arg264=)
c.2406A>G (p.Arg802=)
c.2484A>G (p.Arg828=)
c.2235A>G (p.Arg745=)
n.2420A>G
c.2466A>G (p.Arg822=)
c.1392A>G (p.Arg464=)
n.2447A>G
1g.151406443T>GCA420909920POGZc.2640A>C (p.Arg880=)
c.2433A>C (p.Arg811=)
c.2592A>C (p.Arg864=)
c.2613A>C (p.Arg871=)
n.2740A>C
c.2307A>C (p.Arg769=)
c.2565A>C (p.Arg855=)
c.2460A>C (p.Arg820=)
c.792A>C (p.Arg264=)
c.2406A>C (p.Arg802=)
c.2484A>C (p.Arg828=)
c.2235A>C (p.Arg745=)
n.2420A>C
c.2466A>C (p.Arg822=)
c.1392A>C (p.Arg464=)
n.2447A>C
 gnomAD v4
1g.151406444C>ACA341950179POGZc.2639G>T (p.Arg880Leu)
c.2432G>T (p.Arg811Leu)
c.2591G>T (p.Arg864Leu)
c.2612G>T (p.Arg871Leu)
n.2739G>T
c.2306G>T (p.Arg769Leu)
c.2564G>T (p.Arg855Leu)
c.2459G>T (p.Arg820Leu)
c.791G>T (p.Arg264Leu)
c.2405G>T (p.Arg802Leu)
c.2483G>T (p.Arg828Leu)
c.2234G>T (p.Arg745Leu)
n.2419G>T
c.2465G>T (p.Arg822Leu)
c.1391G>T (p.Arg464Leu)
n.2446G>T
1g.151406444C=CA2479570669POGZc.2639G= (p.Arg880=)
c.2432G= (p.Arg811=)
c.2591G= (p.Arg864=)
c.2612G= (p.Arg871=)
n.2739G=
c.2306G= (p.Arg769=)
c.2564G= (p.Arg855=)
c.2459G= (p.Arg820=)
c.791G= (p.Arg264=)
c.2405G= (p.Arg802=)
c.2483G= (p.Arg828=)
c.2234G= (p.Arg745=)
n.2419G=
c.2465G= (p.Arg822=)
c.1391G= (p.Arg464=)
n.2446G=
1g.151406444C>GCA341950182POGZc.2639G>C (p.Arg880Pro)
c.2432G>C (p.Arg811Pro)
c.2591G>C (p.Arg864Pro)
c.2612G>C (p.Arg871Pro)
n.2739G>C
c.2306G>C (p.Arg769Pro)
c.2564G>C (p.Arg855Pro)
c.2459G>C (p.Arg820Pro)
c.791G>C (p.Arg264Pro)
c.2405G>C (p.Arg802Pro)
c.2483G>C (p.Arg828Pro)
c.2234G>C (p.Arg745Pro)
n.2419G>C
c.2465G>C (p.Arg822Pro)
c.1391G>C (p.Arg464Pro)
n.2446G>C
1g.151406444C>TCA1091097POGZc.2639G>A (p.Arg880Gln)
c.2432G>A (p.Arg811Gln)
c.2591G>A (p.Arg864Gln)
c.2612G>A (p.Arg871Gln)
n.2739G>A
c.2306G>A (p.Arg769Gln)
c.2564G>A (p.Arg855Gln)
c.2459G>A (p.Arg820Gln)
c.791G>A (p.Arg264Gln)
c.2405G>A (p.Arg802Gln)
c.2483G>A (p.Arg828Gln)
c.2234G>A (p.Arg745Gln)
n.2419G>A
c.2465G>A (p.Arg822Gln)
c.1391G>A (p.Arg464Gln)
n.2446G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406445G>ACA351485POGZc.2638C>T (p.Arg880Ter)
c.2431C>T (p.Arg811Ter)
c.2590C>T (p.Arg864Ter)
c.2611C>T (p.Arg871Ter)
n.2738C>T
c.2305C>T (p.Arg769Ter)
c.2563C>T (p.Arg855Ter)
c.2458C>T (p.Arg820Ter)
c.790C>T (p.Arg264Ter)
c.2404C>T (p.Arg802Ter)
c.2482C>T (p.Arg828Ter)
c.2233C>T (p.Arg745Ter)
n.2418C>T
c.2464C>T (p.Arg822Ter)
c.1390C>T (p.Arg464Ter)
n.2445C>T
 ClinVar dbSNP
1g.151406445G>CCA341950191POGZc.2638C>G (p.Arg880Gly)
c.2431C>G (p.Arg811Gly)
c.2590C>G (p.Arg864Gly)
c.2611C>G (p.Arg871Gly)
n.2738C>G
c.2305C>G (p.Arg769Gly)
c.2563C>G (p.Arg855Gly)
c.2458C>G (p.Arg820Gly)
c.790C>G (p.Arg264Gly)
c.2404C>G (p.Arg802Gly)
c.2482C>G (p.Arg828Gly)
c.2233C>G (p.Arg745Gly)
n.2418C>G
c.2464C>G (p.Arg822Gly)
c.1390C>G (p.Arg464Gly)
n.2445C>G
 dbSNP
1g.151406445G=CA2479570670POGZc.2638C= (p.Arg880=)
c.2431C= (p.Arg811=)
c.2590C= (p.Arg864=)
c.2611C= (p.Arg871=)
n.2738C=
c.2305C= (p.Arg769=)
c.2563C= (p.Arg855=)
c.2458C= (p.Arg820=)
c.790C= (p.Arg264=)
c.2404C= (p.Arg802=)
c.2482C= (p.Arg828=)
c.2233C= (p.Arg745=)
n.2418C=
c.2464C= (p.Arg822=)
c.1390C= (p.Arg464=)
n.2445C=
1g.151406445G>TCA1091098POGZc.2638C>A (p.Arg880=)
c.2431C>A (p.Arg811=)
c.2590C>A (p.Arg864=)
c.2611C>A (p.Arg871=)
n.2738C>A
c.2305C>A (p.Arg769=)
c.2563C>A (p.Arg855=)
c.2458C>A (p.Arg820=)
c.790C>A (p.Arg264=)
c.2404C>A (p.Arg802=)
c.2482C>A (p.Arg828=)
c.2233C>A (p.Arg745=)
n.2418C>A
c.2464C>A (p.Arg822=)
c.1390C>A (p.Arg464=)
n.2445C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406446G>ACA420909924POGZc.2637C>T (p.Asp879=)
c.2430C>T (p.Asp810=)
c.2589C>T (p.Asp863=)
c.2610C>T (p.Asp870=)
n.2737C>T
c.2304C>T (p.Asp768=)
c.2562C>T (p.Asp854=)
c.2457C>T (p.Asp819=)
c.789C>T (p.Asp263=)
c.2403C>T (p.Asp801=)
c.2481C>T (p.Asp827=)
c.2232C>T (p.Asp744=)
n.2417C>T
c.2463C>T (p.Asp821=)
c.1389C>T (p.Asp463=)
n.2444C>T
 gnomAD v4
1g.151406446G>CCA341950194POGZc.2637C>G (p.Asp879Glu)
c.2430C>G (p.Asp810Glu)
c.2589C>G (p.Asp863Glu)
c.2610C>G (p.Asp870Glu)
n.2737C>G
c.2304C>G (p.Asp768Glu)
c.2562C>G (p.Asp854Glu)
c.2457C>G (p.Asp819Glu)
c.789C>G (p.Asp263Glu)
c.2403C>G (p.Asp801Glu)
c.2481C>G (p.Asp827Glu)
c.2232C>G (p.Asp744Glu)
n.2417C>G
c.2463C>G (p.Asp821Glu)
c.1389C>G (p.Asp463Glu)
n.2444C>G
1g.151406446G>TCA341950196POGZc.2637C>A (p.Asp879Glu)
c.2430C>A (p.Asp810Glu)
c.2589C>A (p.Asp863Glu)
c.2610C>A (p.Asp870Glu)
n.2737C>A
c.2304C>A (p.Asp768Glu)
c.2562C>A (p.Asp854Glu)
c.2457C>A (p.Asp819Glu)
c.789C>A (p.Asp263Glu)
c.2403C>A (p.Asp801Glu)
c.2481C>A (p.Asp827Glu)
c.2232C>A (p.Asp744Glu)
n.2417C>A
c.2463C>A (p.Asp821Glu)
c.1389C>A (p.Asp463Glu)
n.2444C>A
1g.151406447T>ACA341950198POGZc.2636A>T (p.Asp879Val)
c.2429A>T (p.Asp810Val)
c.2588A>T (p.Asp863Val)
c.2609A>T (p.Asp870Val)
n.2736A>T
c.2303A>T (p.Asp768Val)
c.2561A>T (p.Asp854Val)
c.2456A>T (p.Asp819Val)
c.788A>T (p.Asp263Val)
c.2402A>T (p.Asp801Val)
c.2480A>T (p.Asp827Val)
c.2231A>T (p.Asp744Val)
n.2416A>T
c.2462A>T (p.Asp821Val)
c.1388A>T (p.Asp463Val)
n.2443A>T
1g.151406447T>CCA341950200POGZc.2636A>G (p.Asp879Gly)
c.2429A>G (p.Asp810Gly)
c.2588A>G (p.Asp863Gly)
c.2609A>G (p.Asp870Gly)
n.2736A>G
c.2303A>G (p.Asp768Gly)
c.2561A>G (p.Asp854Gly)
c.2456A>G (p.Asp819Gly)
c.788A>G (p.Asp263Gly)
c.2402A>G (p.Asp801Gly)
c.2480A>G (p.Asp827Gly)
c.2231A>G (p.Asp744Gly)
n.2416A>G
c.2462A>G (p.Asp821Gly)
c.1388A>G (p.Asp463Gly)
n.2443A>G
1g.151406447T>GCA341950202POGZc.2636A>C (p.Asp879Ala)
c.2429A>C (p.Asp810Ala)
c.2588A>C (p.Asp863Ala)
c.2609A>C (p.Asp870Ala)
n.2736A>C
c.2303A>C (p.Asp768Ala)
c.2561A>C (p.Asp854Ala)
c.2456A>C (p.Asp819Ala)
c.788A>C (p.Asp263Ala)
c.2402A>C (p.Asp801Ala)
c.2480A>C (p.Asp827Ala)
c.2231A>C (p.Asp744Ala)
n.2416A>C
c.2462A>C (p.Asp821Ala)
c.1388A>C (p.Asp463Ala)
n.2443A>C
1g.151406448C>ACA341950204POGZc.2635G>T (p.Asp879Tyr)
c.2428G>T (p.Asp810Tyr)
c.2587G>T (p.Asp863Tyr)
c.2608G>T (p.Asp870Tyr)
n.2735G>T
c.2302G>T (p.Asp768Tyr)
c.2560G>T (p.Asp854Tyr)
c.2455G>T (p.Asp819Tyr)
c.787G>T (p.Asp263Tyr)
c.2401G>T (p.Asp801Tyr)
c.2479G>T (p.Asp827Tyr)
c.2230G>T (p.Asp744Tyr)
n.2415G>T
c.2461G>T (p.Asp821Tyr)
c.1387G>T (p.Asp463Tyr)
n.2442G>T
 gnomAD v4
1g.151406448C>GCA341950206POGZc.2635G>C (p.Asp879His)
c.2428G>C (p.Asp810His)
c.2587G>C (p.Asp863His)
c.2608G>C (p.Asp870His)
n.2735G>C
c.2302G>C (p.Asp768His)
c.2560G>C (p.Asp854His)
c.2455G>C (p.Asp819His)
c.787G>C (p.Asp263His)
c.2401G>C (p.Asp801His)
c.2479G>C (p.Asp827His)
c.2230G>C (p.Asp744His)
n.2415G>C
c.2461G>C (p.Asp821His)
c.1387G>C (p.Asp463His)
n.2442G>C
1g.151406448C>TCA341950207POGZc.2635G>A (p.Asp879Asn)
c.2428G>A (p.Asp810Asn)
c.2587G>A (p.Asp863Asn)
c.2608G>A (p.Asp870Asn)
n.2735G>A
c.2302G>A (p.Asp768Asn)
c.2560G>A (p.Asp854Asn)
c.2455G>A (p.Asp819Asn)
c.787G>A (p.Asp263Asn)
c.2401G>A (p.Asp801Asn)
c.2479G>A (p.Asp827Asn)
c.2230G>A (p.Asp744Asn)
n.2415G>A
c.2461G>A (p.Asp821Asn)
c.1387G>A (p.Asp463Asn)
n.2442G>A
1g.151406449A>CCA420909928POGZc.2634T>G (p.Arg878=)
c.2427T>G (p.Arg809=)
c.2586T>G (p.Arg862=)
c.2607T>G (p.Arg869=)
n.2734T>G
c.2301T>G (p.Arg767=)
c.2559T>G (p.Arg853=)
c.2454T>G (p.Arg818=)
c.786T>G (p.Arg262=)
c.2400T>G (p.Arg800=)
c.2478T>G (p.Arg826=)
c.2229T>G (p.Arg743=)
n.2414T>G
c.2460T>G (p.Arg820=)
c.1386T>G (p.Arg462=)
n.2441T>G
1g.151406449A>GCA420909929POGZc.2634T>C (p.Arg878=)
c.2427T>C (p.Arg809=)
c.2586T>C (p.Arg862=)
c.2607T>C (p.Arg869=)
n.2734T>C
c.2301T>C (p.Arg767=)
c.2559T>C (p.Arg853=)
c.2454T>C (p.Arg818=)
c.786T>C (p.Arg262=)
c.2400T>C (p.Arg800=)
c.2478T>C (p.Arg826=)
c.2229T>C (p.Arg743=)
n.2414T>C
c.2460T>C (p.Arg820=)
c.1386T>C (p.Arg462=)
n.2441T>C
1g.151406449A>TCA420909930POGZc.2634T>A (p.Arg878=)
c.2427T>A (p.Arg809=)
c.2586T>A (p.Arg862=)
c.2607T>A (p.Arg869=)
n.2734T>A
c.2301T>A (p.Arg767=)
c.2559T>A (p.Arg853=)
c.2454T>A (p.Arg818=)
c.786T>A (p.Arg262=)
c.2400T>A (p.Arg800=)
c.2478T>A (p.Arg826=)
c.2229T>A (p.Arg743=)
n.2414T>A
c.2460T>A (p.Arg820=)
c.1386T>A (p.Arg462=)
n.2441T>A
1g.151406450C>ACA341950210POGZc.2633G>T (p.Arg878Leu)
c.2426G>T (p.Arg809Leu)
c.2585G>T (p.Arg862Leu)
c.2606G>T (p.Arg869Leu)
n.2733G>T
c.2300G>T (p.Arg767Leu)
c.2558G>T (p.Arg853Leu)
c.2453G>T (p.Arg818Leu)
c.785G>T (p.Arg262Leu)
c.2399G>T (p.Arg800Leu)
c.2477G>T (p.Arg826Leu)
c.2228G>T (p.Arg743Leu)
n.2413G>T
c.2459G>T (p.Arg820Leu)
c.1385G>T (p.Arg462Leu)
n.2440G>T
1g.151406450C=CA2479570671POGZc.2633G= (p.Arg878=)
c.2426G= (p.Arg809=)
c.2585G= (p.Arg862=)
c.2606G= (p.Arg869=)
n.2733G=
c.2300G= (p.Arg767=)
c.2558G= (p.Arg853=)
c.2453G= (p.Arg818=)
c.785G= (p.Arg262=)
c.2399G= (p.Arg800=)
c.2477G= (p.Arg826=)
c.2228G= (p.Arg743=)
n.2413G=
c.2459G= (p.Arg820=)
c.1385G= (p.Arg462=)
n.2440G=
1g.151406450C>GCA341950211POGZc.2633G>C (p.Arg878Pro)
c.2426G>C (p.Arg809Pro)
c.2585G>C (p.Arg862Pro)
c.2606G>C (p.Arg869Pro)
n.2733G>C
c.2300G>C (p.Arg767Pro)
c.2558G>C (p.Arg853Pro)
c.2453G>C (p.Arg818Pro)
c.785G>C (p.Arg262Pro)
c.2399G>C (p.Arg800Pro)
c.2477G>C (p.Arg826Pro)
c.2228G>C (p.Arg743Pro)
n.2413G>C
c.2459G>C (p.Arg820Pro)
c.1385G>C (p.Arg462Pro)
n.2440G>C
 dbSNP gnomAD v4
1g.151406450C>TCA1091099POGZc.2633G>A (p.Arg878His)
c.2426G>A (p.Arg809His)
c.2585G>A (p.Arg862His)
c.2606G>A (p.Arg869His)
n.2733G>A
c.2300G>A (p.Arg767His)
c.2558G>A (p.Arg853His)
c.2453G>A (p.Arg818His)
c.785G>A (p.Arg262His)
c.2399G>A (p.Arg800His)
c.2477G>A (p.Arg826His)
c.2228G>A (p.Arg743His)
n.2413G>A
c.2459G>A (p.Arg820His)
c.1385G>A (p.Arg462His)
n.2440G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406451G>ACA341950214POGZc.2632C>T (p.Arg878Cys)
c.2425C>T (p.Arg809Cys)
c.2584C>T (p.Arg862Cys)
c.2605C>T (p.Arg869Cys)
n.2732C>T
c.2299C>T (p.Arg767Cys)
c.2557C>T (p.Arg853Cys)
c.2452C>T (p.Arg818Cys)
c.784C>T (p.Arg262Cys)
c.2398C>T (p.Arg800Cys)
c.2476C>T (p.Arg826Cys)
c.2227C>T (p.Arg743Cys)
n.2412C>T
c.2458C>T (p.Arg820Cys)
c.1384C>T (p.Arg462Cys)
n.2439C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406451G>CCA1091100POGZc.2632C>G (p.Arg878Gly)
c.2425C>G (p.Arg809Gly)
c.2584C>G (p.Arg862Gly)
c.2605C>G (p.Arg869Gly)
n.2732C>G
c.2299C>G (p.Arg767Gly)
c.2557C>G (p.Arg853Gly)
c.2452C>G (p.Arg818Gly)
c.784C>G (p.Arg262Gly)
c.2398C>G (p.Arg800Gly)
c.2476C>G (p.Arg826Gly)
c.2227C>G (p.Arg743Gly)
n.2412C>G
c.2458C>G (p.Arg820Gly)
c.1384C>G (p.Arg462Gly)
n.2439C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406451G=CA1149108113POGZc.2632C= (p.Arg878=)
c.2425C= (p.Arg809=)
c.2584C= (p.Arg862=)
c.2605C= (p.Arg869=)
n.2732C=
c.2299C= (p.Arg767=)
c.2557C= (p.Arg853=)
c.2452C= (p.Arg818=)
c.784C= (p.Arg262=)
c.2398C= (p.Arg800=)
c.2476C= (p.Arg826=)
c.2227C= (p.Arg743=)
n.2412C=
c.2458C= (p.Arg820=)
c.1384C= (p.Arg462=)
n.2439C=
1g.151406451G>TCA341950215POGZc.2632C>A (p.Arg878Ser)
c.2425C>A (p.Arg809Ser)
c.2584C>A (p.Arg862Ser)
c.2605C>A (p.Arg869Ser)
n.2732C>A
c.2299C>A (p.Arg767Ser)
c.2557C>A (p.Arg853Ser)
c.2452C>A (p.Arg818Ser)
c.784C>A (p.Arg262Ser)
c.2398C>A (p.Arg800Ser)
c.2476C>A (p.Arg826Ser)
c.2227C>A (p.Arg743Ser)
n.2412C>A
c.2458C>A (p.Arg820Ser)
c.1384C>A (p.Arg462Ser)
n.2439C>A
1g.151406452A=CA2479570672POGZc.2631T= (p.Thr877=)
c.2424T= (p.Thr808=)
c.2583T= (p.Thr861=)
c.2604T= (p.Thr868=)
n.2731T=
c.2298T= (p.Thr766=)
c.2556T= (p.Thr852=)
c.2451T= (p.Thr817=)
c.783T= (p.Thr261=)
c.2397T= (p.Thr799=)
c.2475T= (p.Thr825=)
c.2226T= (p.Thr742=)
n.2411T=
c.2457T= (p.Thr819=)
c.1383T= (p.Thr461=)
n.2438T=
1g.151406452A>CCA420909933POGZc.2631T>G (p.Thr877=)
c.2424T>G (p.Thr808=)
c.2583T>G (p.Thr861=)
c.2604T>G (p.Thr868=)
n.2731T>G
c.2298T>G (p.Thr766=)
c.2556T>G (p.Thr852=)
c.2451T>G (p.Thr817=)
c.783T>G (p.Thr261=)
c.2397T>G (p.Thr799=)
c.2475T>G (p.Thr825=)
c.2226T>G (p.Thr742=)
n.2411T>G
c.2457T>G (p.Thr819=)
c.1383T>G (p.Thr461=)
n.2438T>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406452A>GCA420909935POGZc.2631T>C (p.Thr877=)
c.2424T>C (p.Thr808=)
c.2583T>C (p.Thr861=)
c.2604T>C (p.Thr868=)
n.2731T>C
c.2298T>C (p.Thr766=)
c.2556T>C (p.Thr852=)
c.2451T>C (p.Thr817=)
c.783T>C (p.Thr261=)
c.2397T>C (p.Thr799=)
c.2475T>C (p.Thr825=)
c.2226T>C (p.Thr742=)
n.2411T>C
c.2457T>C (p.Thr819=)
c.1383T>C (p.Thr461=)
n.2438T>C
1g.151406452A>TCA420909937POGZc.2631T>A (p.Thr877=)
c.2424T>A (p.Thr808=)
c.2583T>A (p.Thr861=)
c.2604T>A (p.Thr868=)
n.2731T>A
c.2298T>A (p.Thr766=)
c.2556T>A (p.Thr852=)
c.2451T>A (p.Thr817=)
c.783T>A (p.Thr261=)
c.2397T>A (p.Thr799=)
c.2475T>A (p.Thr825=)
c.2226T>A (p.Thr742=)
n.2411T>A
c.2457T>A (p.Thr819=)
c.1383T>A (p.Thr461=)
n.2438T>A
1g.151406453G>ACA341950217POGZc.2630C>T (p.Thr877Ile)
c.2423C>T (p.Thr808Ile)
c.2582C>T (p.Thr861Ile)
c.2603C>T (p.Thr868Ile)
n.2730C>T
c.2297C>T (p.Thr766Ile)
c.2555C>T (p.Thr852Ile)
c.2450C>T (p.Thr817Ile)
c.782C>T (p.Thr261Ile)
c.2396C>T (p.Thr799Ile)
c.2474C>T (p.Thr825Ile)
c.2225C>T (p.Thr742Ile)
n.2410C>T
c.2456C>T (p.Thr819Ile)
c.1382C>T (p.Thr461Ile)
n.2437C>T
1g.151406453G>CCA341950220POGZc.2630C>G (p.Thr877Ser)
c.2423C>G (p.Thr808Ser)
c.2582C>G (p.Thr861Ser)
c.2603C>G (p.Thr868Ser)
n.2730C>G
c.2297C>G (p.Thr766Ser)
c.2555C>G (p.Thr852Ser)
c.2450C>G (p.Thr817Ser)
c.782C>G (p.Thr261Ser)
c.2396C>G (p.Thr799Ser)
c.2474C>G (p.Thr825Ser)
c.2225C>G (p.Thr742Ser)
n.2410C>G
c.2456C>G (p.Thr819Ser)
c.1382C>G (p.Thr461Ser)
n.2437C>G
1g.151406453G>TCA341950218POGZc.2630C>A (p.Thr877Asn)
c.2423C>A (p.Thr808Asn)
c.2582C>A (p.Thr861Asn)
c.2603C>A (p.Thr868Asn)
n.2730C>A
c.2297C>A (p.Thr766Asn)
c.2555C>A (p.Thr852Asn)
c.2450C>A (p.Thr817Asn)
c.782C>A (p.Thr261Asn)
c.2396C>A (p.Thr799Asn)
c.2474C>A (p.Thr825Asn)
c.2225C>A (p.Thr742Asn)
n.2410C>A
c.2456C>A (p.Thr819Asn)
c.1382C>A (p.Thr461Asn)
n.2437C>A
1g.151406454T>ACA341950222POGZc.2629A>T (p.Thr877Ser)
c.2422A>T (p.Thr808Ser)
c.2581A>T (p.Thr861Ser)
c.2602A>T (p.Thr868Ser)
n.2729A>T
c.2296A>T (p.Thr766Ser)
c.2554A>T (p.Thr852Ser)
c.2449A>T (p.Thr817Ser)
c.781A>T (p.Thr261Ser)
c.2395A>T (p.Thr799Ser)
c.2473A>T (p.Thr825Ser)
c.2224A>T (p.Thr742Ser)
n.2409A>T
c.2455A>T (p.Thr819Ser)
c.1381A>T (p.Thr461Ser)
n.2436A>T
1g.151406454T>CCA341950223POGZc.2629A>G (p.Thr877Ala)
c.2422A>G (p.Thr808Ala)
c.2581A>G (p.Thr861Ala)
c.2602A>G (p.Thr868Ala)
n.2729A>G
c.2296A>G (p.Thr766Ala)
c.2554A>G (p.Thr852Ala)
c.2449A>G (p.Thr817Ala)
c.781A>G (p.Thr261Ala)
c.2395A>G (p.Thr799Ala)
c.2473A>G (p.Thr825Ala)
c.2224A>G (p.Thr742Ala)
n.2409A>G
c.2455A>G (p.Thr819Ala)
c.1381A>G (p.Thr461Ala)
n.2436A>G
1g.151406454T>GCA341950224POGZc.2629A>C (p.Thr877Pro)
c.2422A>C (p.Thr808Pro)
c.2581A>C (p.Thr861Pro)
c.2602A>C (p.Thr868Pro)
n.2729A>C
c.2296A>C (p.Thr766Pro)
c.2554A>C (p.Thr852Pro)
c.2449A>C (p.Thr817Pro)
c.781A>C (p.Thr261Pro)
c.2395A>C (p.Thr799Pro)
c.2473A>C (p.Thr825Pro)
c.2224A>C (p.Thr742Pro)
n.2409A>C
c.2455A>C (p.Thr819Pro)
c.1381A>C (p.Thr461Pro)
n.2436A>C
1g.151406455C>ACA341950226POGZc.2628G>T (p.Gln876His)
c.2421G>T (p.Gln807His)
c.2580G>T (p.Gln860His)
c.2601G>T (p.Gln867His)
n.2728G>T
c.2295G>T (p.Gln765His)
c.2553G>T (p.Gln851His)
c.2448G>T (p.Gln816His)
c.780G>T (p.Gln260His)
c.2394G>T (p.Gln798His)
c.2472G>T (p.Gln824His)
c.2223G>T (p.Gln741His)
n.2408G>T
c.2454G>T (p.Gln818His)
c.1380G>T (p.Gln460His)
n.2435G>T
1g.151406455C>GCA341950227POGZc.2628G>C (p.Gln876His)
c.2421G>C (p.Gln807His)
c.2580G>C (p.Gln860His)
c.2601G>C (p.Gln867His)
n.2728G>C
c.2295G>C (p.Gln765His)
c.2553G>C (p.Gln851His)
c.2448G>C (p.Gln816His)
c.780G>C (p.Gln260His)
c.2394G>C (p.Gln798His)
c.2472G>C (p.Gln824His)
c.2223G>C (p.Gln741His)
n.2408G>C
c.2454G>C (p.Gln818His)
c.1380G>C (p.Gln460His)
n.2435G>C
 gnomAD v4
1g.151406455C>TCA420909940POGZc.2628G>A (p.Gln876=)
c.2421G>A (p.Gln807=)
c.2580G>A (p.Gln860=)
c.2601G>A (p.Gln867=)
n.2728G>A
c.2295G>A (p.Gln765=)
c.2553G>A (p.Gln851=)
c.2448G>A (p.Gln816=)
c.780G>A (p.Gln260=)
c.2394G>A (p.Gln798=)
c.2472G>A (p.Gln824=)
c.2223G>A (p.Gln741=)
n.2408G>A
c.2454G>A (p.Gln818=)
c.1380G>A (p.Gln460=)
n.2435G>A
1g.151406456T>ACA341950229POGZc.2627A>T (p.Gln876Leu)
c.2420A>T (p.Gln807Leu)
c.2579A>T (p.Gln860Leu)
c.2600A>T (p.Gln867Leu)
n.2727A>T
c.2294A>T (p.Gln765Leu)
c.2552A>T (p.Gln851Leu)
c.2447A>T (p.Gln816Leu)
c.779A>T (p.Gln260Leu)
c.2393A>T (p.Gln798Leu)
c.2471A>T (p.Gln824Leu)
c.2222A>T (p.Gln741Leu)
n.2407A>T
c.2453A>T (p.Gln818Leu)
c.1379A>T (p.Gln460Leu)
n.2434A>T
1g.151406456T>CCA341950231POGZc.2627A>G (p.Gln876Arg)
c.2420A>G (p.Gln807Arg)
c.2579A>G (p.Gln860Arg)
c.2600A>G (p.Gln867Arg)
n.2727A>G
c.2294A>G (p.Gln765Arg)
c.2552A>G (p.Gln851Arg)
c.2447A>G (p.Gln816Arg)
c.779A>G (p.Gln260Arg)
c.2393A>G (p.Gln798Arg)
c.2471A>G (p.Gln824Arg)
c.2222A>G (p.Gln741Arg)
n.2407A>G
c.2453A>G (p.Gln818Arg)
c.1379A>G (p.Gln460Arg)
n.2434A>G
 dbSNP gnomAD v3 gnomAD v4
1g.151406456T>GCA341950232POGZc.2627A>C (p.Gln876Pro)
c.2420A>C (p.Gln807Pro)
c.2579A>C (p.Gln860Pro)
c.2600A>C (p.Gln867Pro)
n.2727A>C
c.2294A>C (p.Gln765Pro)
c.2552A>C (p.Gln851Pro)
c.2447A>C (p.Gln816Pro)
c.779A>C (p.Gln260Pro)
c.2393A>C (p.Gln798Pro)
c.2471A>C (p.Gln824Pro)
c.2222A>C (p.Gln741Pro)
n.2407A>C
c.2453A>C (p.Gln818Pro)
c.1379A>C (p.Gln460Pro)
n.2434A>C
1g.151406456T=CA2479570673POGZc.2627A= (p.Gln876=)
c.2420A= (p.Gln807=)
c.2579A= (p.Gln860=)
c.2600A= (p.Gln867=)
n.2727A=
c.2294A= (p.Gln765=)
c.2552A= (p.Gln851=)
c.2447A= (p.Gln816=)
c.779A= (p.Gln260=)
c.2393A= (p.Gln798=)
c.2471A= (p.Gln824=)
c.2222A= (p.Gln741=)
n.2407A=
c.2453A= (p.Gln818=)
c.1379A= (p.Gln460=)
n.2434A=
1g.151406457G>ACA341950235POGZc.2626C>T (p.Gln876Ter)
c.2419C>T (p.Gln807Ter)
c.2578C>T (p.Gln860Ter)
c.2599C>T (p.Gln867Ter)
n.2726C>T
c.2293C>T (p.Gln765Ter)
c.2551C>T (p.Gln851Ter)
c.2446C>T (p.Gln816Ter)
c.778C>T (p.Gln260Ter)
c.2392C>T (p.Gln798Ter)
c.2470C>T (p.Gln824Ter)
c.2221C>T (p.Gln741Ter)
n.2406C>T
c.2452C>T (p.Gln818Ter)
c.1378C>T (p.Gln460Ter)
n.2433C>T
1g.151406457G>CCA341950237POGZc.2626C>G (p.Gln876Glu)
c.2419C>G (p.Gln807Glu)
c.2578C>G (p.Gln860Glu)
c.2599C>G (p.Gln867Glu)
n.2726C>G
c.2293C>G (p.Gln765Glu)
c.2551C>G (p.Gln851Glu)
c.2446C>G (p.Gln816Glu)
c.778C>G (p.Gln260Glu)
c.2392C>G (p.Gln798Glu)
c.2470C>G (p.Gln824Glu)
c.2221C>G (p.Gln741Glu)
n.2406C>G
c.2452C>G (p.Gln818Glu)
c.1378C>G (p.Gln460Glu)
n.2433C>G
1g.151406457G>TCA341950238POGZc.2626C>A (p.Gln876Lys)
c.2419C>A (p.Gln807Lys)
c.2578C>A (p.Gln860Lys)
c.2599C>A (p.Gln867Lys)
n.2726C>A
c.2293C>A (p.Gln765Lys)
c.2551C>A (p.Gln851Lys)
c.2446C>A (p.Gln816Lys)
c.778C>A (p.Gln260Lys)
c.2392C>A (p.Gln798Lys)
c.2470C>A (p.Gln824Lys)
c.2221C>A (p.Gln741Lys)
n.2406C>A
c.2452C>A (p.Gln818Lys)
c.1378C>A (p.Gln460Lys)
n.2433C>A
1g.151406458G>ACA420909944POGZc.2625C>T (p.Gly875=)
c.2418C>T (p.Gly806=)
c.2577C>T (p.Gly859=)
c.2598C>T (p.Gly866=)
n.2725C>T
c.2292C>T (p.Gly764=)
c.2550C>T (p.Gly850=)
c.2445C>T (p.Gly815=)
c.777C>T (p.Gly259=)
c.2391C>T (p.Gly797=)
c.2469C>T (p.Gly823=)
c.2220C>T (p.Gly740=)
n.2405C>T
c.2451C>T (p.Gly817=)
c.1377C>T (p.Gly459=)
n.2432C>T
 gnomAD v4
1g.151406458G>CCA420909946POGZc.2625C>G (p.Gly875=)
c.2418C>G (p.Gly806=)
c.2577C>G (p.Gly859=)
c.2598C>G (p.Gly866=)
n.2725C>G
c.2292C>G (p.Gly764=)
c.2550C>G (p.Gly850=)
c.2445C>G (p.Gly815=)
c.777C>G (p.Gly259=)
c.2391C>G (p.Gly797=)
c.2469C>G (p.Gly823=)
c.2220C>G (p.Gly740=)
n.2405C>G
c.2451C>G (p.Gly817=)
c.1377C>G (p.Gly459=)
n.2432C>G
1g.151406458G>TCA420909947POGZc.2625C>A (p.Gly875=)
c.2418C>A (p.Gly806=)
c.2577C>A (p.Gly859=)
c.2598C>A (p.Gly866=)
n.2725C>A
c.2292C>A (p.Gly764=)
c.2550C>A (p.Gly850=)
c.2445C>A (p.Gly815=)
c.777C>A (p.Gly259=)
c.2391C>A (p.Gly797=)
c.2469C>A (p.Gly823=)
c.2220C>A (p.Gly740=)
n.2405C>A
c.2451C>A (p.Gly817=)
c.1377C>A (p.Gly459=)
n.2432C>A
1g.151406458_151406466delinsGCCATGCCTCA2479570674POGZc.2619-2_2625delinsAGGCATGGC
c.2412-2_2418delinsAGGCATGGC
c.2571-2_2577delinsAGGCATGGC
c.2592-2_2598delinsAGGCATGGC
n.2719-2_2725delinsAGGCATGGC
c.2286-2_2292delinsAGGCATGGC
c.2544-2_2550delinsAGGCATGGC
c.2439-2_2445delinsAGGCATGGC
c.771-2_777delinsAGGCATGGC
c.2385-2_2391delinsAGGCATGGC
c.2463-2_2469delinsAGGCATGGC
c.2214-2_2220delinsAGGCATGGC
n.2399-2_2405delinsAGGCATGGC
c.2445-2_2451delinsAGGCATGGC
c.1371-2_1377delinsAGGCATGGC
n.2426-2_2432delinsAGGCATGGC
1g.151406459C>ACA341950243POGZc.2624G>T (p.Gly875Val)
c.2417G>T (p.Gly806Val)
c.2576G>T (p.Gly859Val)
c.2597G>T (p.Gly866Val)
n.2724G>T
c.2291G>T (p.Gly764Val)
c.2549G>T (p.Gly850Val)
c.2444G>T (p.Gly815Val)
c.776G>T (p.Gly259Val)
c.2390G>T (p.Gly797Val)
c.2468G>T (p.Gly823Val)
c.2219G>T (p.Gly740Val)
n.2404G>T
c.2450G>T (p.Gly817Val)
c.1376G>T (p.Gly459Val)
n.2431G>T
1g.151406459C>GCA341950241POGZc.2624G>C (p.Gly875Ala)
c.2417G>C (p.Gly806Ala)
c.2576G>C (p.Gly859Ala)
c.2597G>C (p.Gly866Ala)
n.2724G>C
c.2291G>C (p.Gly764Ala)
c.2549G>C (p.Gly850Ala)
c.2444G>C (p.Gly815Ala)
c.776G>C (p.Gly259Ala)
c.2390G>C (p.Gly797Ala)
c.2468G>C (p.Gly823Ala)
c.2219G>C (p.Gly740Ala)
n.2404G>C
c.2450G>C (p.Gly817Ala)
c.1376G>C (p.Gly459Ala)
n.2431G>C
1g.151406459C>TCA341950239POGZc.2624G>A (p.Gly875Asp)
c.2417G>A (p.Gly806Asp)
c.2576G>A (p.Gly859Asp)
c.2597G>A (p.Gly866Asp)
n.2724G>A
c.2291G>A (p.Gly764Asp)
c.2549G>A (p.Gly850Asp)
c.2444G>A (p.Gly815Asp)
c.776G>A (p.Gly259Asp)
c.2390G>A (p.Gly797Asp)
c.2468G>A (p.Gly823Asp)
c.2219G>A (p.Gly740Asp)
n.2404G>A
c.2450G>A (p.Gly817Asp)
c.1376G>A (p.Gly459Asp)
n.2431G>A
1g.151406459_151406466delCA916082084POGZc.2619-2_2624del
c.2412-2_2417del
c.2571-2_2576del
c.2592-2_2597del
n.2719-2_2724del
c.2286-2_2291del
c.2544-2_2549del
c.2439-2_2444del
c.771-2_776del
c.2385-2_2390del
c.2463-2_2468del
c.2214-2_2219del
n.2399-2_2404del
c.2445-2_2450del
c.1371-2_1376del
n.2426-2_2431del
 ClinVar dbSNP
1g.151406460C>ACA341950245POGZc.2623G>T (p.Gly875Cys)
c.2416G>T (p.Gly806Cys)
c.2575G>T (p.Gly859Cys)
c.2596G>T (p.Gly866Cys)
n.2723G>T
c.2290G>T (p.Gly764Cys)
c.2548G>T (p.Gly850Cys)
c.2443G>T (p.Gly815Cys)
c.775G>T (p.Gly259Cys)
c.2389G>T (p.Gly797Cys)
c.2467G>T (p.Gly823Cys)
c.2218G>T (p.Gly740Cys)
n.2403G>T
c.2449G>T (p.Gly817Cys)
c.1375G>T (p.Gly459Cys)
n.2430G>T
1g.151406460C=CA2479570675POGZc.2623G= (p.Gly875=)
c.2416G= (p.Gly806=)
c.2575G= (p.Gly859=)
c.2596G= (p.Gly866=)
n.2723G=
c.2290G= (p.Gly764=)
c.2548G= (p.Gly850=)
c.2443G= (p.Gly815=)
c.775G= (p.Gly259=)
c.2389G= (p.Gly797=)
c.2467G= (p.Gly823=)
c.2218G= (p.Gly740=)
n.2403G=
c.2449G= (p.Gly817=)
c.1375G= (p.Gly459=)
n.2430G=
1g.151406460C>GCA341950247POGZc.2623G>C (p.Gly875Arg)
c.2416G>C (p.Gly806Arg)
c.2575G>C (p.Gly859Arg)
c.2596G>C (p.Gly866Arg)
n.2723G>C
c.2290G>C (p.Gly764Arg)
c.2548G>C (p.Gly850Arg)
c.2443G>C (p.Gly815Arg)
c.775G>C (p.Gly259Arg)
c.2389G>C (p.Gly797Arg)
c.2467G>C (p.Gly823Arg)
c.2218G>C (p.Gly740Arg)
n.2403G>C
c.2449G>C (p.Gly817Arg)
c.1375G>C (p.Gly459Arg)
n.2430G>C
1g.151406460C>TCA341950249POGZc.2623G>A (p.Gly875Ser)
c.2416G>A (p.Gly806Ser)
c.2575G>A (p.Gly859Ser)
c.2596G>A (p.Gly866Ser)
n.2723G>A
c.2290G>A (p.Gly764Ser)
c.2548G>A (p.Gly850Ser)
c.2443G>A (p.Gly815Ser)
c.775G>A (p.Gly259Ser)
c.2389G>A (p.Gly797Ser)
c.2467G>A (p.Gly823Ser)
c.2218G>A (p.Gly740Ser)
n.2403G>A
c.2449G>A (p.Gly817Ser)
c.1375G>A (p.Gly459Ser)
n.2430G>A
 dbSNP gnomAD v3 gnomAD v4
1g.151406460_151406461delinsCACA2479570676POGZc.2622_2623delinsTG (p.His874=)
c.2415_2416delinsTG (p.His805=)
c.2574_2575delinsTG (p.His858=)
c.2595_2596delinsTG (p.His865=)
n.2722_2723delinsTG
c.2289_2290delinsTG (p.His763=)
c.2547_2548delinsTG (p.His849=)
c.2442_2443delinsTG (p.His814=)
c.774_775delinsTG (p.His258=)
c.2388_2389delinsTG (p.His796=)
c.2466_2467delinsTG (p.His822=)
c.2217_2218delinsTG (p.His739=)
n.2402_2403delinsTG
c.2448_2449delinsTG (p.His816=)
c.1374_1375delinsTG (p.His458=)
n.2429_2430delinsTG
1g.151406461delCA1139656308POGZc.2622del (p.His874GlnfsTer13)
c.2415del (p.His805GlnfsTer13)
c.2574del (p.His858GlnfsTer13)
c.2595del (p.His865GlnfsTer13)
n.2722del
c.2289del (p.His763GlnfsTer13)
c.2547del (p.His849GlnfsTer13)
c.2442del (p.His814GlnfsTer13)
c.774del (p.His258GlnfsTer13)
c.2388del (p.His796GlnfsTer13)
c.2466del (p.His822GlnfsTer13)
c.2217del (p.His739GlnfsTer13)
n.2402del
c.2448del (p.His816GlnfsTer13)
c.1374del (p.His458GlnfsTer13)
n.2429del
 ClinVar dbSNP
1g.151406461A=CA2479570677POGZc.2622T= (p.His874=)
c.2415T= (p.His805=)
c.2574T= (p.His858=)
c.2595T= (p.His865=)
n.2722T=
c.2289T= (p.His763=)
c.2547T= (p.His849=)
c.2442T= (p.His814=)
c.774T= (p.His258=)
c.2388T= (p.His796=)
c.2466T= (p.His822=)
c.2217T= (p.His739=)
n.2402T=
c.2448T= (p.His816=)
c.1374T= (p.His458=)
n.2429T=
1g.151406461A>CCA341950251POGZc.2622T>G (p.His874Gln)
c.2415T>G (p.His805Gln)
c.2574T>G (p.His858Gln)
c.2595T>G (p.His865Gln)
n.2722T>G
c.2289T>G (p.His763Gln)
c.2547T>G (p.His849Gln)
c.2442T>G (p.His814Gln)
c.774T>G (p.His258Gln)
c.2388T>G (p.His796Gln)
c.2466T>G (p.His822Gln)
c.2217T>G (p.His739Gln)
n.2402T>G
c.2448T>G (p.His816Gln)
c.1374T>G (p.His458Gln)
n.2429T>G
1g.151406461A>GCA420909951POGZc.2622T>C (p.His874=)
c.2415T>C (p.His805=)
c.2574T>C (p.His858=)
c.2595T>C (p.His865=)
n.2722T>C
c.2289T>C (p.His763=)
c.2547T>C (p.His849=)
c.2442T>C (p.His814=)
c.774T>C (p.His258=)
c.2388T>C (p.His796=)
c.2466T>C (p.His822=)
c.2217T>C (p.His739=)
n.2402T>C
c.2448T>C (p.His816=)
c.1374T>C (p.His458=)
n.2429T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406461A>TCA341950252POGZc.2622T>A (p.His874Gln)
c.2415T>A (p.His805Gln)
c.2574T>A (p.His858Gln)
c.2595T>A (p.His865Gln)
n.2722T>A
c.2289T>A (p.His763Gln)
c.2547T>A (p.His849Gln)
c.2442T>A (p.His814Gln)
c.774T>A (p.His258Gln)
c.2388T>A (p.His796Gln)
c.2466T>A (p.His822Gln)
c.2217T>A (p.His739Gln)
n.2402T>A
c.2448T>A (p.His816Gln)
c.1374T>A (p.His458Gln)
n.2429T>A
 dbSNP
1g.151406462T>ACA341950255POGZc.2621A>T (p.His874Leu)
c.2414A>T (p.His805Leu)
c.2573A>T (p.His858Leu)
c.2594A>T (p.His865Leu)
n.2721A>T
c.2288A>T (p.His763Leu)
c.2546A>T (p.His849Leu)
c.2441A>T (p.His814Leu)
c.773A>T (p.His258Leu)
c.2387A>T (p.His796Leu)
c.2465A>T (p.His822Leu)
c.2216A>T (p.His739Leu)
n.2401A>T
c.2447A>T (p.His816Leu)
c.1373A>T (p.His458Leu)
n.2428A>T
1g.151406462T>CCA341950256POGZc.2621A>G (p.His874Arg)
c.2414A>G (p.His805Arg)
c.2573A>G (p.His858Arg)
c.2594A>G (p.His865Arg)
n.2721A>G
c.2288A>G (p.His763Arg)
c.2546A>G (p.His849Arg)
c.2441A>G (p.His814Arg)
c.773A>G (p.His258Arg)
c.2387A>G (p.His796Arg)
c.2465A>G (p.His822Arg)
c.2216A>G (p.His739Arg)
n.2401A>G
c.2447A>G (p.His816Arg)
c.1373A>G (p.His458Arg)
n.2428A>G
 dbSNP
1g.151406462T>GCA341950257POGZc.2621A>C (p.His874Pro)
c.2414A>C (p.His805Pro)
c.2573A>C (p.His858Pro)
c.2594A>C (p.His865Pro)
n.2721A>C
c.2288A>C (p.His763Pro)
c.2546A>C (p.His849Pro)
c.2441A>C (p.His814Pro)
c.773A>C (p.His258Pro)
c.2387A>C (p.His796Pro)
c.2465A>C (p.His822Pro)
c.2216A>C (p.His739Pro)
n.2401A>C
c.2447A>C (p.His816Pro)
c.1373A>C (p.His458Pro)
n.2428A>C
1g.151406462T=CA2479570678POGZc.2621A= (p.His874=)
c.2414A= (p.His805=)
c.2573A= (p.His858=)
c.2594A= (p.His865=)
n.2721A=
c.2288A= (p.His763=)
c.2546A= (p.His849=)
c.2441A= (p.His814=)
c.773A= (p.His258=)
c.2387A= (p.His796=)
c.2465A= (p.His822=)
c.2216A= (p.His739=)
n.2401A=
c.2447A= (p.His816=)
c.1373A= (p.His458=)
n.2428A=
1g.151406463G>ACA29569552POGZc.2620C>T (p.His874Tyr)
c.2413C>T (p.His805Tyr)
c.2572C>T (p.His858Tyr)
c.2593C>T (p.His865Tyr)
n.2720C>T
c.2287C>T (p.His763Tyr)
c.2545C>T (p.His849Tyr)
c.2440C>T (p.His814Tyr)
c.772C>T (p.His258Tyr)
c.2386C>T (p.His796Tyr)
c.2464C>T (p.His822Tyr)
c.2215C>T (p.His739Tyr)
n.2400C>T
c.2446C>T (p.His816Tyr)
c.1372C>T (p.His458Tyr)
n.2427C>T
 dbSNP gnomAD v4
1g.151406463G>CCA341950259POGZc.2620C>G (p.His874Asp)
c.2413C>G (p.His805Asp)
c.2572C>G (p.His858Asp)
c.2593C>G (p.His865Asp)
n.2720C>G
c.2287C>G (p.His763Asp)
c.2545C>G (p.His849Asp)
c.2440C>G (p.His814Asp)
c.772C>G (p.His258Asp)
c.2386C>G (p.His796Asp)
c.2464C>G (p.His822Asp)
c.2215C>G (p.His739Asp)
n.2400C>G
c.2446C>G (p.His816Asp)
c.1372C>G (p.His458Asp)
n.2427C>G
1g.151406463G=CA2479570679POGZc.2620C= (p.His874=)
c.2413C= (p.His805=)
c.2572C= (p.His858=)
c.2593C= (p.His865=)
n.2720C=
c.2287C= (p.His763=)
c.2545C= (p.His849=)
c.2440C= (p.His814=)
c.772C= (p.His258=)
c.2386C= (p.His796=)
c.2464C= (p.His822=)
c.2215C= (p.His739=)
n.2400C=
c.2446C= (p.His816=)
c.1372C= (p.His458=)
n.2427C=
1g.151406463G>TCA341950261POGZc.2620C>A (p.His874Asn)
c.2413C>A (p.His805Asn)
c.2572C>A (p.His858Asn)
c.2593C>A (p.His865Asn)
n.2720C>A
c.2287C>A (p.His763Asn)
c.2545C>A (p.His849Asn)
c.2440C>A (p.His814Asn)
c.772C>A (p.His258Asn)
c.2386C>A (p.His796Asn)
c.2464C>A (p.His822Asn)
c.2215C>A (p.His739Asn)
n.2400C>A
c.2446C>A (p.His816Asn)
c.1372C>A (p.His458Asn)
n.2427C>A
1g.151406464C>ACA341950263POGZc.2619G>T (p.Arg873Ser)
c.2412G>T (p.Arg804Ser)
c.2571G>T (p.Arg857Ser)
c.2592G>T (p.Arg864Ser)
n.2719G>T
c.2286G>T (p.Arg762Ser)
c.2544G>T (p.Arg848Ser)
c.2439G>T (p.Arg813Ser)
c.771G>T (p.Arg257Ser)
c.2385G>T (p.Arg795Ser)
c.2463G>T (p.Arg821Ser)
c.2214G>T (p.Arg738Ser)
n.2399G>T
c.2445G>T (p.Arg815Ser)
c.1371G>T (p.Arg457Ser)
n.2426G>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406464C=CA2479570680POGZc.2619G= (p.Arg873=)
c.2412G= (p.Arg804=)
c.2571G= (p.Arg857=)
c.2592G= (p.Arg864=)
n.2719G=
c.2286G= (p.Arg762=)
c.2544G= (p.Arg848=)
c.2439G= (p.Arg813=)
c.771G= (p.Arg257=)
c.2385G= (p.Arg795=)
c.2463G= (p.Arg821=)
c.2214G= (p.Arg738=)
n.2399G=
c.2445G= (p.Arg815=)
c.1371G= (p.Arg457=)
n.2426G=
1g.151406464C>GCA341950265POGZc.2619G>C (p.Arg873Ser)
c.2412G>C (p.Arg804Ser)
c.2571G>C (p.Arg857Ser)
c.2592G>C (p.Arg864Ser)
n.2719G>C
c.2286G>C (p.Arg762Ser)
c.2544G>C (p.Arg848Ser)
c.2439G>C (p.Arg813Ser)
c.771G>C (p.Arg257Ser)
c.2385G>C (p.Arg795Ser)
c.2463G>C (p.Arg821Ser)
c.2214G>C (p.Arg738Ser)
n.2399G>C
c.2445G>C (p.Arg815Ser)
c.1371G>C (p.Arg457Ser)
n.2426G>C
 dbSNP gnomAD v3 gnomAD v4
1g.151406464C>TCA420909953POGZc.2619G>A (p.Arg873=)
c.2412G>A (p.Arg804=)
c.2571G>A (p.Arg857=)
c.2592G>A (p.Arg864=)
n.2719G>A
c.2286G>A (p.Arg762=)
c.2544G>A (p.Arg848=)
c.2439G>A (p.Arg813=)
c.771G>A (p.Arg257=)
c.2385G>A (p.Arg795=)
c.2463G>A (p.Arg821=)
c.2214G>A (p.Arg738=)
n.2399G>A
c.2445G>A (p.Arg815=)
c.1371G>A (p.Arg457=)
n.2426G>A
1g.151406465C>ACA341950270POGZc.2619-1G>T (n.2619-1G>T)
c.2412-1G>T (n.2412-1G>T)
c.2571-1G>T (n.2571-1G>T)
c.2592-1G>T (n.2592-1G>T)
n.2719-1G>T
c.2286-1G>T (n.2286-1G>T)
c.2544-1G>T (n.2544-1G>T)
c.2439-1G>T (n.2439-1G>T)
c.771-1G>T (n.771-1G>T)
c.2385-1G>T (n.2385-1G>T)
c.2463-1G>T (n.2463-1G>T)
c.2214-1G>T (n.2214-1G>T)
n.2399-1G>T
c.2445-1G>T (n.2445-1G>T)
c.1371-1G>T (n.1371-1G>T)
n.2426-1G>T
1g.151406465C>GCA341950268POGZc.2619-1G>C (n.2619-1G>C)
c.2412-1G>C (n.2412-1G>C)
c.2571-1G>C (n.2571-1G>C)
c.2592-1G>C (n.2592-1G>C)
n.2719-1G>C
c.2286-1G>C (n.2286-1G>C)
c.2544-1G>C (n.2544-1G>C)
c.2439-1G>C (n.2439-1G>C)
c.771-1G>C (n.771-1G>C)
c.2385-1G>C (n.2385-1G>C)
c.2463-1G>C (n.2463-1G>C)
c.2214-1G>C (n.2214-1G>C)
n.2399-1G>C
c.2445-1G>C (n.2445-1G>C)
c.1371-1G>C (n.1371-1G>C)
n.2426-1G>C
 ClinVar dbSNP
1g.151406465C>TCA341950267POGZc.2619-1G>A (n.2619-1G>A)
c.2412-1G>A (n.2412-1G>A)
c.2571-1G>A (n.2571-1G>A)
c.2592-1G>A (n.2592-1G>A)
n.2719-1G>A
c.2286-1G>A (n.2286-1G>A)
c.2544-1G>A (n.2544-1G>A)
c.2439-1G>A (n.2439-1G>A)
c.771-1G>A (n.771-1G>A)
c.2385-1G>A (n.2385-1G>A)
c.2463-1G>A (n.2463-1G>A)
c.2214-1G>A (n.2214-1G>A)
n.2399-1G>A
c.2445-1G>A (n.2445-1G>A)
c.1371-1G>A (n.1371-1G>A)
n.2426-1G>A
1g.151406466delCA2586964175POGZc.2619-2del (n.2619-2del)
c.2412-2del (n.2412-2del)
c.2571-2del (n.2571-2del)
c.2592-2del (n.2592-2del)
n.2719-2del
c.2286-2del (n.2286-2del)
c.2544-2del (n.2544-2del)
c.2439-2del (n.2439-2del)
c.771-2del (n.771-2del)
c.2385-2del (n.2385-2del)
c.2463-2del (n.2463-2del)
c.2214-2del (n.2214-2del)
n.2399-2del
c.2445-2del (n.2445-2del)
c.1371-2del (n.1371-2del)
n.2426-2del
1g.151406466T>ACA341950278POGZc.2619-2A>T (n.2619-2A>T)
c.2412-2A>T (n.2412-2A>T)
c.2571-2A>T (n.2571-2A>T)
c.2592-2A>T (n.2592-2A>T)
n.2719-2A>T
c.2286-2A>T (n.2286-2A>T)
c.2544-2A>T (n.2544-2A>T)
c.2439-2A>T (n.2439-2A>T)
c.771-2A>T (n.771-2A>T)
c.2385-2A>T (n.2385-2A>T)
c.2463-2A>T (n.2463-2A>T)
c.2214-2A>T (n.2214-2A>T)
n.2399-2A>T
c.2445-2A>T (n.2445-2A>T)
c.1371-2A>T (n.1371-2A>T)
n.2426-2A>T
 COSMIC COSMIC
1g.151406466T>CCA341950276POGZc.2619-2A>G (n.2619-2A>G)
c.2412-2A>G (n.2412-2A>G)
c.2571-2A>G (n.2571-2A>G)
c.2592-2A>G (n.2592-2A>G)
n.2719-2A>G
c.2286-2A>G (n.2286-2A>G)
c.2544-2A>G (n.2544-2A>G)
c.2439-2A>G (n.2439-2A>G)
c.771-2A>G (n.771-2A>G)
c.2385-2A>G (n.2385-2A>G)
c.2463-2A>G (n.2463-2A>G)
c.2214-2A>G (n.2214-2A>G)
n.2399-2A>G
c.2445-2A>G (n.2445-2A>G)
c.1371-2A>G (n.1371-2A>G)
n.2426-2A>G
1g.151406466T>GCA341950280POGZc.2619-2A>C (n.2619-2A>C)
c.2412-2A>C (n.2412-2A>C)
c.2571-2A>C (n.2571-2A>C)
c.2592-2A>C (n.2592-2A>C)
n.2719-2A>C
c.2286-2A>C (n.2286-2A>C)
c.2544-2A>C (n.2544-2A>C)
c.2439-2A>C (n.2439-2A>C)
c.771-2A>C (n.771-2A>C)
c.2385-2A>C (n.2385-2A>C)
c.2463-2A>C (n.2463-2A>C)
c.2214-2A>C (n.2214-2A>C)
n.2399-2A>C
c.2445-2A>C (n.2445-2A>C)
c.1371-2A>C (n.1371-2A>C)
n.2426-2A>C
1g.151406468A>CCA2647920378POGZc.2619-4T>G (n.2619-4T>G)
c.2412-4T>G (n.2412-4T>G)
c.2571-4T>G (n.2571-4T>G)
c.2592-4T>G (n.2592-4T>G)
n.2719-4T>G
c.2286-4T>G (n.2286-4T>G)
c.2544-4T>G (n.2544-4T>G)
c.2439-4T>G (n.2439-4T>G)
c.771-4T>G (n.771-4T>G)
c.2385-4T>G (n.2385-4T>G)
c.2463-4T>G (n.2463-4T>G)
c.2214-4T>G (n.2214-4T>G)
n.2399-4T>G
c.2445-4T>G (n.2445-4T>G)
c.1371-4T>G (n.1371-4T>G)
n.2426-4T>G
 gnomAD v4
1g.151406469A=CA2479570681POGZc.2619-5T= (n.2619-5T=)
c.2412-5T= (n.2412-5T=)
c.2571-5T= (n.2571-5T=)
c.2592-5T= (n.2592-5T=)
n.2719-5T=
c.2286-5T= (n.2286-5T=)
c.2544-5T= (n.2544-5T=)
c.2439-5T= (n.2439-5T=)
c.771-5T= (n.771-5T=)
c.2385-5T= (n.2385-5T=)
c.2463-5T= (n.2463-5T=)
c.2214-5T= (n.2214-5T=)
n.2399-5T=
c.2445-5T= (n.2445-5T=)
c.1371-5T= (n.1371-5T=)
n.2426-5T=
1g.151406469A>CCA526660646POGZc.2619-5T>G (n.2619-5T>G)
c.2412-5T>G (n.2412-5T>G)
c.2571-5T>G (n.2571-5T>G)
c.2592-5T>G (n.2592-5T>G)
n.2719-5T>G
c.2286-5T>G (n.2286-5T>G)
c.2544-5T>G (n.2544-5T>G)
c.2439-5T>G (n.2439-5T>G)
c.771-5T>G (n.771-5T>G)
c.2385-5T>G (n.2385-5T>G)
c.2463-5T>G (n.2463-5T>G)
c.2214-5T>G (n.2214-5T>G)
n.2399-5T>G
c.2445-5T>G (n.2445-5T>G)
c.1371-5T>G (n.1371-5T>G)
n.2426-5T>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406470G>ACA1091101POGZc.2619-6C>T (n.2619-6C>T)
c.2412-6C>T (n.2412-6C>T)
c.2571-6C>T (n.2571-6C>T)
c.2592-6C>T (n.2592-6C>T)
n.2719-6C>T
c.2286-6C>T (n.2286-6C>T)
c.2544-6C>T (n.2544-6C>T)
c.2439-6C>T (n.2439-6C>T)
c.771-6C>T (n.771-6C>T)
c.2385-6C>T (n.2385-6C>T)
c.2463-6C>T (n.2463-6C>T)
c.2214-6C>T (n.2214-6C>T)
n.2399-6C>T
c.2445-6C>T (n.2445-6C>T)
c.1371-6C>T (n.1371-6C>T)
n.2426-6C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406470G=CA2479570682POGZc.2619-6C= (n.2619-6C=)
c.2412-6C= (n.2412-6C=)
c.2571-6C= (n.2571-6C=)
c.2592-6C= (n.2592-6C=)
n.2719-6C=
c.2286-6C= (n.2286-6C=)
c.2544-6C= (n.2544-6C=)
c.2439-6C= (n.2439-6C=)
c.771-6C= (n.771-6C=)
c.2385-6C= (n.2385-6C=)
c.2463-6C= (n.2463-6C=)
c.2214-6C= (n.2214-6C=)
n.2399-6C=
c.2445-6C= (n.2445-6C=)
c.1371-6C= (n.1371-6C=)
n.2426-6C=
1g.151406471G>TCA2746103789POGZc.2619-7C>A (n.2619-7C>A)
c.2412-7C>A (n.2412-7C>A)
c.2571-7C>A (n.2571-7C>A)
c.2592-7C>A (n.2592-7C>A)
n.2719-7C>A
c.2286-7C>A (n.2286-7C>A)
c.2544-7C>A (n.2544-7C>A)
c.2439-7C>A (n.2439-7C>A)
c.771-7C>A (n.771-7C>A)
c.2385-7C>A (n.2385-7C>A)
c.2463-7C>A (n.2463-7C>A)
c.2214-7C>A (n.2214-7C>A)
n.2399-7C>A
c.2445-7C>A (n.2445-7C>A)
c.1371-7C>A (n.1371-7C>A)
n.2426-7C>A
1g.151406472G>ACA1091102POGZc.2619-8C>T (n.2619-8C>T)
c.2412-8C>T (n.2412-8C>T)
c.2571-8C>T (n.2571-8C>T)
c.2592-8C>T (n.2592-8C>T)
n.2719-8C>T
c.2286-8C>T (n.2286-8C>T)
c.2544-8C>T (n.2544-8C>T)
c.2439-8C>T (n.2439-8C>T)
c.771-8C>T (n.771-8C>T)
c.2385-8C>T (n.2385-8C>T)
c.2463-8C>T (n.2463-8C>T)
c.2214-8C>T (n.2214-8C>T)
n.2399-8C>T
c.2445-8C>T (n.2445-8C>T)
c.1371-8C>T (n.1371-8C>T)
n.2426-8C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406472G>CCA2479570684POGZc.2619-8C>G (n.2619-8C>G)
c.2412-8C>G (n.2412-8C>G)
c.2571-8C>G (n.2571-8C>G)
c.2592-8C>G (n.2592-8C>G)
n.2719-8C>G
c.2286-8C>G (n.2286-8C>G)
c.2544-8C>G (n.2544-8C>G)
c.2439-8C>G (n.2439-8C>G)
c.771-8C>G (n.771-8C>G)
c.2385-8C>G (n.2385-8C>G)
c.2463-8C>G (n.2463-8C>G)
c.2214-8C>G (n.2214-8C>G)
n.2399-8C>G
c.2445-8C>G (n.2445-8C>G)
c.1371-8C>G (n.1371-8C>G)
n.2426-8C>G
 dbSNP
1g.151406472G=CA2479570683POGZc.2619-8C= (n.2619-8C=)
c.2412-8C= (n.2412-8C=)
c.2571-8C= (n.2571-8C=)
c.2592-8C= (n.2592-8C=)
n.2719-8C=
c.2286-8C= (n.2286-8C=)
c.2544-8C= (n.2544-8C=)
c.2439-8C= (n.2439-8C=)
c.771-8C= (n.771-8C=)
c.2385-8C= (n.2385-8C=)
c.2463-8C= (n.2463-8C=)
c.2214-8C= (n.2214-8C=)
n.2399-8C=
c.2445-8C= (n.2445-8C=)
c.1371-8C= (n.1371-8C=)
n.2426-8C=
1g.151406473G>TCA2574056017POGZc.2619-9C>A (n.2619-9C>A)
c.2412-9C>A (n.2412-9C>A)
c.2571-9C>A (n.2571-9C>A)
c.2592-9C>A (n.2592-9C>A)
n.2719-9C>A
c.2286-9C>A (n.2286-9C>A)
c.2544-9C>A (n.2544-9C>A)
c.2439-9C>A (n.2439-9C>A)
c.771-9C>A (n.771-9C>A)
c.2385-9C>A (n.2385-9C>A)
c.2463-9C>A (n.2463-9C>A)
c.2214-9C>A (n.2214-9C>A)
n.2399-9C>A
c.2445-9C>A (n.2445-9C>A)
c.1371-9C>A (n.1371-9C>A)
n.2426-9C>A
 gnomAD v4
1g.151406474T>CCA1091103POGZc.2619-10A>G (n.2619-10A>G)
c.2412-10A>G (n.2412-10A>G)
c.2571-10A>G (n.2571-10A>G)
c.2592-10A>G (n.2592-10A>G)
n.2719-10A>G
c.2286-10A>G (n.2286-10A>G)
c.2544-10A>G (n.2544-10A>G)
c.2439-10A>G (n.2439-10A>G)
c.771-10A>G (n.771-10A>G)
c.2385-10A>G (n.2385-10A>G)
c.2463-10A>G (n.2463-10A>G)
c.2214-10A>G (n.2214-10A>G)
n.2399-10A>G
c.2445-10A>G (n.2445-10A>G)
c.1371-10A>G (n.1371-10A>G)
n.2426-10A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406474T=CA2479570685POGZc.2619-10A= (n.2619-10A=)
c.2412-10A= (n.2412-10A=)
c.2571-10A= (n.2571-10A=)
c.2592-10A= (n.2592-10A=)
n.2719-10A=
c.2286-10A= (n.2286-10A=)
c.2544-10A= (n.2544-10A=)
c.2439-10A= (n.2439-10A=)
c.771-10A= (n.771-10A=)
c.2385-10A= (n.2385-10A=)
c.2463-10A= (n.2463-10A=)
c.2214-10A= (n.2214-10A=)
n.2399-10A=
c.2445-10A= (n.2445-10A=)
c.1371-10A= (n.1371-10A=)
n.2426-10A=
1g.151406475G>ACA2647920379POGZc.2619-11C>T (n.2619-11C>T)
c.2412-11C>T (n.2412-11C>T)
c.2571-11C>T (n.2571-11C>T)
c.2592-11C>T (n.2592-11C>T)
n.2719-11C>T
c.2286-11C>T (n.2286-11C>T)
c.2544-11C>T (n.2544-11C>T)
c.2439-11C>T (n.2439-11C>T)
c.771-11C>T (n.771-11C>T)
c.2385-11C>T (n.2385-11C>T)
c.2463-11C>T (n.2463-11C>T)
c.2214-11C>T (n.2214-11C>T)
n.2399-11C>T
c.2445-11C>T (n.2445-11C>T)
c.1371-11C>T (n.1371-11C>T)
n.2426-11C>T
 gnomAD v4
1g.151406476A=CA2479570686POGZc.2619-12T= (n.2619-12T=)
c.2412-12T= (n.2412-12T=)
c.2571-12T= (n.2571-12T=)
c.2592-12T= (n.2592-12T=)
n.2719-12T=
c.2286-12T= (n.2286-12T=)
c.2544-12T= (n.2544-12T=)
c.2439-12T= (n.2439-12T=)
c.771-12T= (n.771-12T=)
c.2385-12T= (n.2385-12T=)
c.2463-12T= (n.2463-12T=)
c.2214-12T= (n.2214-12T=)
n.2399-12T=
c.2445-12T= (n.2445-12T=)
c.1371-12T= (n.1371-12T=)
n.2426-12T=
1g.151406476A>GCA889312951POGZc.2619-12T>C (n.2619-12T>C)
c.2412-12T>C (n.2412-12T>C)
c.2571-12T>C (n.2571-12T>C)
c.2592-12T>C (n.2592-12T>C)
n.2719-12T>C
c.2286-12T>C (n.2286-12T>C)
c.2544-12T>C (n.2544-12T>C)
c.2439-12T>C (n.2439-12T>C)
c.771-12T>C (n.771-12T>C)
c.2385-12T>C (n.2385-12T>C)
c.2463-12T>C (n.2463-12T>C)
c.2214-12T>C (n.2214-12T>C)
n.2399-12T>C
c.2445-12T>C (n.2445-12T>C)
c.1371-12T>C (n.1371-12T>C)
n.2426-12T>C
 dbSNP

Number of alleles fetched