Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406266dupCA2740090363POGZc.2819dup (p.Gln941AlafsTer19)
c.2612dup (p.Gln872AlafsTer19)
c.2771dup (p.Gln925AlafsTer19)
c.2792dup (p.Gln932AlafsTer19)
n.2919dup
c.2486dup (p.Gln830AlafsTer19)
c.2744dup (p.Gln916AlafsTer19)
c.2639dup (p.Gln881AlafsTer19)
c.2585dup (p.Gln863AlafsTer19)
c.2663dup (p.Gln889AlafsTer19)
c.2414dup (p.Gln806AlafsTer19)
c.2645dup (p.Gln883AlafsTer19)
c.1571dup (p.Gln525AlafsTer19)
n.2626dup
 ClinVar
1g.151406266delCA658795515POGZc.2819del (p.Pro940ArgfsTer4)
c.2612del (p.Pro871ArgfsTer4)
c.2771del (p.Pro924ArgfsTer4)
c.2792del (p.Pro931ArgfsTer4)
n.2919del
c.2486del (p.Pro829ArgfsTer4)
c.2744del (p.Pro915ArgfsTer4)
c.2639del (p.Pro880ArgfsTer4)
c.2585del (p.Pro862ArgfsTer4)
c.2663del (p.Pro888ArgfsTer4)
c.2414del (p.Pro805ArgfsTer4)
c.2645del (p.Pro882ArgfsTer4)
c.1571del (p.Pro524ArgfsTer4)
n.2626del
 ClinVar dbSNP
1g.151406266G>ACA420910221POGZc.2817C>T (p.His939=)
c.2610C>T (p.His870=)
c.2769C>T (p.His923=)
c.2790C>T (p.His930=)
n.2917C>T
c.2484C>T (p.His828=)
c.2742C>T (p.His914=)
c.2637C>T (p.His879=)
c.2583C>T (p.His861=)
c.2661C>T (p.His887=)
c.2412C>T (p.His804=)
c.2643C>T (p.His881=)
c.1569C>T (p.His523=)
n.2624C>T
1g.151406266G>CCA341948987POGZc.2817C>G (p.His939Gln)
c.2610C>G (p.His870Gln)
c.2769C>G (p.His923Gln)
c.2790C>G (p.His930Gln)
n.2917C>G
c.2484C>G (p.His828Gln)
c.2742C>G (p.His914Gln)
c.2637C>G (p.His879Gln)
c.2583C>G (p.His861Gln)
c.2661C>G (p.His887Gln)
c.2412C>G (p.His804Gln)
c.2643C>G (p.His881Gln)
c.1569C>G (p.His523Gln)
n.2624C>G
1g.151406266G=CA2479570582POGZc.2817C= (p.His939=)
c.2610C= (p.His870=)
c.2769C= (p.His923=)
c.2790C= (p.His930=)
n.2917C=
c.2484C= (p.His828=)
c.2742C= (p.His914=)
c.2637C= (p.His879=)
c.2583C= (p.His861=)
c.2661C= (p.His887=)
c.2412C= (p.His804=)
c.2643C= (p.His881=)
c.1569C= (p.His523=)
n.2624C=
1g.151406266G>TCA341948988POGZc.2817C>A (p.His939Gln)
c.2610C>A (p.His870Gln)
c.2769C>A (p.His923Gln)
c.2790C>A (p.His930Gln)
n.2917C>A
c.2484C>A (p.His828Gln)
c.2742C>A (p.His914Gln)
c.2637C>A (p.His879Gln)
c.2583C>A (p.His861Gln)
c.2661C>A (p.His887Gln)
c.2412C>A (p.His804Gln)
c.2643C>A (p.His881Gln)
c.1569C>A (p.His523Gln)
n.2624C>A
 dbSNP gnomAD v4
1g.151406267T>ACA341948989POGZc.2816A>T (p.His939Leu)
c.2609A>T (p.His870Leu)
c.2768A>T (p.His923Leu)
c.2789A>T (p.His930Leu)
n.2916A>T
c.2483A>T (p.His828Leu)
c.2741A>T (p.His914Leu)
c.2636A>T (p.His879Leu)
c.2582A>T (p.His861Leu)
c.2660A>T (p.His887Leu)
c.2411A>T (p.His804Leu)
c.2642A>T (p.His881Leu)
c.1568A>T (p.His523Leu)
n.2623A>T
1g.151406267T>CCA341948990POGZc.2816A>G (p.His939Arg)
c.2609A>G (p.His870Arg)
c.2768A>G (p.His923Arg)
c.2789A>G (p.His930Arg)
n.2916A>G
c.2483A>G (p.His828Arg)
c.2741A>G (p.His914Arg)
c.2636A>G (p.His879Arg)
c.2582A>G (p.His861Arg)
c.2660A>G (p.His887Arg)
c.2411A>G (p.His804Arg)
c.2642A>G (p.His881Arg)
c.1568A>G (p.His523Arg)
n.2623A>G
1g.151406267T>GCA341948994POGZc.2816A>C (p.His939Pro)
c.2609A>C (p.His870Pro)
c.2768A>C (p.His923Pro)
c.2789A>C (p.His930Pro)
n.2916A>C
c.2483A>C (p.His828Pro)
c.2741A>C (p.His914Pro)
c.2636A>C (p.His879Pro)
c.2582A>C (p.His861Pro)
c.2660A>C (p.His887Pro)
c.2411A>C (p.His804Pro)
c.2642A>C (p.His881Pro)
c.1568A>C (p.His523Pro)
n.2623A>C
1g.151406267dupCA2479570583POGZc.2816dup (p.His939GlnfsTer21)
c.2609dup (p.His870GlnfsTer21)
c.2768dup (p.His923GlnfsTer21)
c.2789dup (p.His930GlnfsTer21)
n.2916dup
c.2483dup (p.His828GlnfsTer21)
c.2741dup (p.His914GlnfsTer21)
c.2636dup (p.His879GlnfsTer21)
c.2582dup (p.His861GlnfsTer21)
c.2660dup (p.His887GlnfsTer21)
c.2411dup (p.His804GlnfsTer21)
c.2642dup (p.His881GlnfsTer21)
c.1568dup (p.His523GlnfsTer21)
n.2623dup
 ClinVar dbSNP
1g.151406268G>ACA1091066POGZc.2815C>T (p.His939Tyr)
c.2608C>T (p.His870Tyr)
c.2767C>T (p.His923Tyr)
c.2788C>T (p.His930Tyr)
n.2915C>T
c.2482C>T (p.His828Tyr)
c.2740C>T (p.His914Tyr)
c.2635C>T (p.His879Tyr)
c.2581C>T (p.His861Tyr)
c.2659C>T (p.His887Tyr)
c.2410C>T (p.His804Tyr)
c.2641C>T (p.His881Tyr)
c.1567C>T (p.His523Tyr)
n.2622C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406268G>CCA341949005POGZc.2815C>G (p.His939Asp)
c.2608C>G (p.His870Asp)
c.2767C>G (p.His923Asp)
c.2788C>G (p.His930Asp)
n.2915C>G
c.2482C>G (p.His828Asp)
c.2740C>G (p.His914Asp)
c.2635C>G (p.His879Asp)
c.2581C>G (p.His861Asp)
c.2659C>G (p.His887Asp)
c.2410C>G (p.His804Asp)
c.2641C>G (p.His881Asp)
c.1567C>G (p.His523Asp)
n.2622C>G
1g.151406268G=CA2479570584POGZc.2815C= (p.His939=)
c.2608C= (p.His870=)
c.2767C= (p.His923=)
c.2788C= (p.His930=)
n.2915C=
c.2482C= (p.His828=)
c.2740C= (p.His914=)
c.2635C= (p.His879=)
c.2581C= (p.His861=)
c.2659C= (p.His887=)
c.2410C= (p.His804=)
c.2641C= (p.His881=)
c.1567C= (p.His523=)
n.2622C=
1g.151406268G>TCA341948998POGZc.2815C>A (p.His939Asn)
c.2608C>A (p.His870Asn)
c.2767C>A (p.His923Asn)
c.2788C>A (p.His930Asn)
n.2915C>A
c.2482C>A (p.His828Asn)
c.2740C>A (p.His914Asn)
c.2635C>A (p.His879Asn)
c.2581C>A (p.His861Asn)
c.2659C>A (p.His887Asn)
c.2410C>A (p.His804Asn)
c.2641C>A (p.His881Asn)
c.1567C>A (p.His523Asn)
n.2622C>A
1g.151406269A>CCA420910226POGZc.2814T>G (p.Thr938=)
c.2607T>G (p.Thr869=)
c.2766T>G (p.Thr922=)
c.2787T>G (p.Thr929=)
n.2914T>G
c.2481T>G (p.Thr827=)
c.2739T>G (p.Thr913=)
c.2634T>G (p.Thr878=)
c.2580T>G (p.Thr860=)
c.2658T>G (p.Thr886=)
c.2409T>G (p.Thr803=)
c.2640T>G (p.Thr880=)
c.1566T>G (p.Thr522=)
n.2621T>G
1g.151406269A>GCA420910227POGZc.2814T>C (p.Thr938=)
c.2607T>C (p.Thr869=)
c.2766T>C (p.Thr922=)
c.2787T>C (p.Thr929=)
n.2914T>C
c.2481T>C (p.Thr827=)
c.2739T>C (p.Thr913=)
c.2634T>C (p.Thr878=)
c.2580T>C (p.Thr860=)
c.2658T>C (p.Thr886=)
c.2409T>C (p.Thr803=)
c.2640T>C (p.Thr880=)
c.1566T>C (p.Thr522=)
n.2621T>C
1g.151406269A>TCA420910228POGZc.2814T>A (p.Thr938=)
c.2607T>A (p.Thr869=)
c.2766T>A (p.Thr922=)
c.2787T>A (p.Thr929=)
n.2914T>A
c.2481T>A (p.Thr827=)
c.2739T>A (p.Thr913=)
c.2634T>A (p.Thr878=)
c.2580T>A (p.Thr860=)
c.2658T>A (p.Thr886=)
c.2409T>A (p.Thr803=)
c.2640T>A (p.Thr880=)
c.1566T>A (p.Thr522=)
n.2621T>A
1g.151406270G>ACA341949022POGZc.2813C>T (p.Thr938Ile)
c.2606C>T (p.Thr869Ile)
c.2765C>T (p.Thr922Ile)
c.2786C>T (p.Thr929Ile)
n.2913C>T
c.2480C>T (p.Thr827Ile)
c.2738C>T (p.Thr913Ile)
c.2633C>T (p.Thr878Ile)
c.2579C>T (p.Thr860Ile)
c.2657C>T (p.Thr886Ile)
c.2408C>T (p.Thr803Ile)
c.2639C>T (p.Thr880Ile)
c.1565C>T (p.Thr522Ile)
n.2620C>T
1g.151406270G>CCA341949020POGZc.2813C>G (p.Thr938Ser)
c.2606C>G (p.Thr869Ser)
c.2765C>G (p.Thr922Ser)
c.2786C>G (p.Thr929Ser)
n.2913C>G
c.2480C>G (p.Thr827Ser)
c.2738C>G (p.Thr913Ser)
c.2633C>G (p.Thr878Ser)
c.2579C>G (p.Thr860Ser)
c.2657C>G (p.Thr886Ser)
c.2408C>G (p.Thr803Ser)
c.2639C>G (p.Thr880Ser)
c.1565C>G (p.Thr522Ser)
n.2620C>G
1g.151406270G>TCA341949031POGZc.2813C>A (p.Thr938Asn)
c.2606C>A (p.Thr869Asn)
c.2765C>A (p.Thr922Asn)
c.2786C>A (p.Thr929Asn)
n.2913C>A
c.2480C>A (p.Thr827Asn)
c.2738C>A (p.Thr913Asn)
c.2633C>A (p.Thr878Asn)
c.2579C>A (p.Thr860Asn)
c.2657C>A (p.Thr886Asn)
c.2408C>A (p.Thr803Asn)
c.2639C>A (p.Thr880Asn)
c.1565C>A (p.Thr522Asn)
n.2620C>A
1g.151406271T>ACA341949038POGZc.2812A>T (p.Thr938Ser)
c.2605A>T (p.Thr869Ser)
c.2764A>T (p.Thr922Ser)
c.2785A>T (p.Thr929Ser)
n.2912A>T
c.2479A>T (p.Thr827Ser)
c.2737A>T (p.Thr913Ser)
c.2632A>T (p.Thr878Ser)
c.2578A>T (p.Thr860Ser)
c.2656A>T (p.Thr886Ser)
c.2407A>T (p.Thr803Ser)
c.2638A>T (p.Thr880Ser)
c.1564A>T (p.Thr522Ser)
n.2619A>T
1g.151406271T>CCA1091067POGZc.2812A>G (p.Thr938Ala)
c.2605A>G (p.Thr869Ala)
c.2764A>G (p.Thr922Ala)
c.2785A>G (p.Thr929Ala)
n.2912A>G
c.2479A>G (p.Thr827Ala)
c.2737A>G (p.Thr913Ala)
c.2632A>G (p.Thr878Ala)
c.2578A>G (p.Thr860Ala)
c.2656A>G (p.Thr886Ala)
c.2407A>G (p.Thr803Ala)
c.2638A>G (p.Thr880Ala)
c.1564A>G (p.Thr522Ala)
n.2619A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406271T>GCA341949041POGZc.2812A>C (p.Thr938Pro)
c.2605A>C (p.Thr869Pro)
c.2764A>C (p.Thr922Pro)
c.2785A>C (p.Thr929Pro)
n.2912A>C
c.2479A>C (p.Thr827Pro)
c.2737A>C (p.Thr913Pro)
c.2632A>C (p.Thr878Pro)
c.2578A>C (p.Thr860Pro)
c.2656A>C (p.Thr886Pro)
c.2407A>C (p.Thr803Pro)
c.2638A>C (p.Thr880Pro)
c.1564A>C (p.Thr522Pro)
n.2619A>C
1g.151406271T=CA2479570585POGZc.2812A= (p.Thr938=)
c.2605A= (p.Thr869=)
c.2764A= (p.Thr922=)
c.2785A= (p.Thr929=)
n.2912A=
c.2479A= (p.Thr827=)
c.2737A= (p.Thr913=)
c.2632A= (p.Thr878=)
c.2578A= (p.Thr860=)
c.2656A= (p.Thr886=)
c.2407A= (p.Thr803=)
c.2638A= (p.Thr880=)
c.1564A= (p.Thr522=)
n.2619A=
1g.151406272G>ACA1091068POGZc.2811C>T (p.Pro937=)
c.2604C>T (p.Pro868=)
c.2763C>T (p.Pro921=)
c.2784C>T (p.Pro928=)
n.2911C>T
c.2478C>T (p.Pro826=)
c.2736C>T (p.Pro912=)
c.2631C>T (p.Pro877=)
c.2577C>T (p.Pro859=)
c.2655C>T (p.Pro885=)
c.2406C>T (p.Pro802=)
c.2637C>T (p.Pro879=)
c.1563C>T (p.Pro521=)
n.2618C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151406272G>CCA420910236POGZc.2811C>G (p.Pro937=)
c.2604C>G (p.Pro868=)
c.2763C>G (p.Pro921=)
c.2784C>G (p.Pro928=)
n.2911C>G
c.2478C>G (p.Pro826=)
c.2736C>G (p.Pro912=)
c.2631C>G (p.Pro877=)
c.2577C>G (p.Pro859=)
c.2655C>G (p.Pro885=)
c.2406C>G (p.Pro802=)
c.2637C>G (p.Pro879=)
c.1563C>G (p.Pro521=)
n.2618C>G
 gnomAD v4
1g.151406272G=CA2479570586POGZc.2811C= (p.Pro937=)
c.2604C= (p.Pro868=)
c.2763C= (p.Pro921=)
c.2784C= (p.Pro928=)
n.2911C=
c.2478C= (p.Pro826=)
c.2736C= (p.Pro912=)
c.2631C= (p.Pro877=)
c.2577C= (p.Pro859=)
c.2655C= (p.Pro885=)
c.2406C= (p.Pro802=)
c.2637C= (p.Pro879=)
c.1563C= (p.Pro521=)
n.2618C=
1g.151406272G>TCA420910235POGZc.2811C>A (p.Pro937=)
c.2604C>A (p.Pro868=)
c.2763C>A (p.Pro921=)
c.2784C>A (p.Pro928=)
n.2911C>A
c.2478C>A (p.Pro826=)
c.2736C>A (p.Pro912=)
c.2631C>A (p.Pro877=)
c.2577C>A (p.Pro859=)
c.2655C>A (p.Pro885=)
c.2406C>A (p.Pro802=)
c.2637C>A (p.Pro879=)
c.1563C>A (p.Pro521=)
n.2618C>A
1g.151406276dupCA347918POGZc.2811dup (p.Thr938HisfsTer22)
c.2604dup (p.Thr869HisfsTer22)
c.2763dup (p.Thr922HisfsTer22)
c.2784dup (p.Thr929HisfsTer22)
n.2911dup
c.2478dup (p.Thr827HisfsTer22)
c.2736dup (p.Thr913HisfsTer22)
c.2631dup (p.Thr878HisfsTer22)
c.2577dup (p.Thr860HisfsTer22)
c.2655dup (p.Thr886HisfsTer22)
c.2406dup (p.Thr803HisfsTer22)
c.2637dup (p.Thr880HisfsTer22)
c.1563dup (p.Thr522HisfsTer22)
n.2618dup
 ClinVar dbSNP
1g.151406276delCA2586964172POGZc.2811del (p.Thr938LeufsTer6)
c.2604del (p.Thr869LeufsTer6)
c.2763del (p.Thr922LeufsTer6)
c.2784del (p.Thr929LeufsTer6)
n.2911del
c.2478del (p.Thr827LeufsTer6)
c.2736del (p.Thr913LeufsTer6)
c.2631del (p.Thr878LeufsTer6)
c.2577del (p.Thr860LeufsTer6)
c.2655del (p.Thr886LeufsTer6)
c.2406del (p.Thr803LeufsTer6)
c.2637del (p.Thr880LeufsTer6)
c.1563del (p.Thr522LeufsTer6)
n.2618del
1g.151406273G>ACA341949067POGZc.2810C>T (p.Pro937Leu)
c.2603C>T (p.Pro868Leu)
c.2762C>T (p.Pro921Leu)
c.2783C>T (p.Pro928Leu)
n.2910C>T
c.2477C>T (p.Pro826Leu)
c.2735C>T (p.Pro912Leu)
c.2630C>T (p.Pro877Leu)
c.2576C>T (p.Pro859Leu)
c.2654C>T (p.Pro885Leu)
c.2405C>T (p.Pro802Leu)
c.2636C>T (p.Pro879Leu)
c.1562C>T (p.Pro521Leu)
n.2617C>T
1g.151406273G>CCA341949069POGZc.2810C>G (p.Pro937Arg)
c.2603C>G (p.Pro868Arg)
c.2762C>G (p.Pro921Arg)
c.2783C>G (p.Pro928Arg)
n.2910C>G
c.2477C>G (p.Pro826Arg)
c.2735C>G (p.Pro912Arg)
c.2630C>G (p.Pro877Arg)
c.2576C>G (p.Pro859Arg)
c.2654C>G (p.Pro885Arg)
c.2405C>G (p.Pro802Arg)
c.2636C>G (p.Pro879Arg)
c.1562C>G (p.Pro521Arg)
n.2617C>G
1g.151406273G>TCA341949072POGZc.2810C>A (p.Pro937His)
c.2603C>A (p.Pro868His)
c.2762C>A (p.Pro921His)
c.2783C>A (p.Pro928His)
n.2910C>A
c.2477C>A (p.Pro826His)
c.2735C>A (p.Pro912His)
c.2630C>A (p.Pro877His)
c.2576C>A (p.Pro859His)
c.2654C>A (p.Pro885His)
c.2405C>A (p.Pro802His)
c.2636C>A (p.Pro879His)
c.1562C>A (p.Pro521His)
n.2617C>A
1g.151406274G>ACA341949076POGZc.2809C>T (p.Pro937Ser)
c.2602C>T (p.Pro868Ser)
c.2761C>T (p.Pro921Ser)
c.2782C>T (p.Pro928Ser)
n.2909C>T
c.2476C>T (p.Pro826Ser)
c.2734C>T (p.Pro912Ser)
c.2629C>T (p.Pro877Ser)
c.2575C>T (p.Pro859Ser)
c.2653C>T (p.Pro885Ser)
c.2404C>T (p.Pro802Ser)
c.2635C>T (p.Pro879Ser)
c.1561C>T (p.Pro521Ser)
n.2616C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406274G>CCA341949079POGZc.2809C>G (p.Pro937Ala)
c.2602C>G (p.Pro868Ala)
c.2761C>G (p.Pro921Ala)
c.2782C>G (p.Pro928Ala)
n.2909C>G
c.2476C>G (p.Pro826Ala)
c.2734C>G (p.Pro912Ala)
c.2629C>G (p.Pro877Ala)
c.2575C>G (p.Pro859Ala)
c.2653C>G (p.Pro885Ala)
c.2404C>G (p.Pro802Ala)
c.2635C>G (p.Pro879Ala)
c.1561C>G (p.Pro521Ala)
n.2616C>G
1g.151406274G=CA2479570587POGZc.2809C= (p.Pro937=)
c.2602C= (p.Pro868=)
c.2761C= (p.Pro921=)
c.2782C= (p.Pro928=)
n.2909C=
c.2476C= (p.Pro826=)
c.2734C= (p.Pro912=)
c.2629C= (p.Pro877=)
c.2575C= (p.Pro859=)
c.2653C= (p.Pro885=)
c.2404C= (p.Pro802=)
c.2635C= (p.Pro879=)
c.1561C= (p.Pro521=)
n.2616C=
1g.151406274G>TCA341949084POGZc.2809C>A (p.Pro937Thr)
c.2602C>A (p.Pro868Thr)
c.2761C>A (p.Pro921Thr)
c.2782C>A (p.Pro928Thr)
n.2909C>A
c.2476C>A (p.Pro826Thr)
c.2734C>A (p.Pro912Thr)
c.2629C>A (p.Pro877Thr)
c.2575C>A (p.Pro859Thr)
c.2653C>A (p.Pro885Thr)
c.2404C>A (p.Pro802Thr)
c.2635C>A (p.Pro879Thr)
c.1561C>A (p.Pro521Thr)
n.2616C>A
1g.151406275G>ACA420910240POGZc.2808C>T (p.Thr936=)
c.2601C>T (p.Thr867=)
c.2760C>T (p.Thr920=)
c.2781C>T (p.Thr927=)
n.2908C>T
c.2475C>T (p.Thr825=)
c.2733C>T (p.Thr911=)
c.2628C>T (p.Thr876=)
c.2574C>T (p.Thr858=)
c.2652C>T (p.Thr884=)
c.2403C>T (p.Thr801=)
c.2634C>T (p.Thr878=)
c.1560C>T (p.Thr520=)
n.2615C>T
1g.151406275G>CCA420910242POGZc.2808C>G (p.Thr936=)
c.2601C>G (p.Thr867=)
c.2760C>G (p.Thr920=)
c.2781C>G (p.Thr927=)
n.2908C>G
c.2475C>G (p.Thr825=)
c.2733C>G (p.Thr911=)
c.2628C>G (p.Thr876=)
c.2574C>G (p.Thr858=)
c.2652C>G (p.Thr884=)
c.2403C>G (p.Thr801=)
c.2634C>G (p.Thr878=)
c.1560C>G (p.Thr520=)
n.2615C>G
 gnomAD v4
1g.151406275G=CA2479570588POGZc.2808C= (p.Thr936=)
c.2601C= (p.Thr867=)
c.2760C= (p.Thr920=)
c.2781C= (p.Thr927=)
n.2908C=
c.2475C= (p.Thr825=)
c.2733C= (p.Thr911=)
c.2628C= (p.Thr876=)
c.2574C= (p.Thr858=)
c.2652C= (p.Thr884=)
c.2403C= (p.Thr801=)
c.2634C= (p.Thr878=)
c.1560C= (p.Thr520=)
n.2615C=
1g.151406275G>TCA420910244POGZc.2808C>A (p.Thr936=)
c.2601C>A (p.Thr867=)
c.2760C>A (p.Thr920=)
c.2781C>A (p.Thr927=)
n.2908C>A
c.2475C>A (p.Thr825=)
c.2733C>A (p.Thr911=)
c.2628C>A (p.Thr876=)
c.2574C>A (p.Thr858=)
c.2652C>A (p.Thr884=)
c.2403C>A (p.Thr801=)
c.2634C>A (p.Thr878=)
c.1560C>A (p.Thr520=)
n.2615C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406276G>ACA341949086POGZc.2807C>T (p.Thr936Ile)
c.2600C>T (p.Thr867Ile)
c.2759C>T (p.Thr920Ile)
c.2780C>T (p.Thr927Ile)
n.2907C>T
c.2474C>T (p.Thr825Ile)
c.2732C>T (p.Thr911Ile)
c.2627C>T (p.Thr876Ile)
c.2573C>T (p.Thr858Ile)
c.2651C>T (p.Thr884Ile)
c.2402C>T (p.Thr801Ile)
c.2633C>T (p.Thr878Ile)
c.1559C>T (p.Thr520Ile)
n.2614C>T
1g.151406276G>CCA341949088POGZc.2807C>G (p.Thr936Ser)
c.2600C>G (p.Thr867Ser)
c.2759C>G (p.Thr920Ser)
c.2780C>G (p.Thr927Ser)
n.2907C>G
c.2474C>G (p.Thr825Ser)
c.2732C>G (p.Thr911Ser)
c.2627C>G (p.Thr876Ser)
c.2573C>G (p.Thr858Ser)
c.2651C>G (p.Thr884Ser)
c.2402C>G (p.Thr801Ser)
c.2633C>G (p.Thr878Ser)
c.1559C>G (p.Thr520Ser)
n.2614C>G
1g.151406276G>TCA341949091POGZc.2807C>A (p.Thr936Asn)
c.2600C>A (p.Thr867Asn)
c.2759C>A (p.Thr920Asn)
c.2780C>A (p.Thr927Asn)
n.2907C>A
c.2474C>A (p.Thr825Asn)
c.2732C>A (p.Thr911Asn)
c.2627C>A (p.Thr876Asn)
c.2573C>A (p.Thr858Asn)
c.2651C>A (p.Thr884Asn)
c.2402C>A (p.Thr801Asn)
c.2633C>A (p.Thr878Asn)
c.1559C>A (p.Thr520Asn)
n.2614C>A
 gnomAD v4
1g.151406277T>ACA341949099POGZc.2806A>T (p.Thr936Ser)
c.2599A>T (p.Thr867Ser)
c.2758A>T (p.Thr920Ser)
c.2779A>T (p.Thr927Ser)
n.2906A>T
c.2473A>T (p.Thr825Ser)
c.2731A>T (p.Thr911Ser)
c.2626A>T (p.Thr876Ser)
c.2572A>T (p.Thr858Ser)
c.2650A>T (p.Thr884Ser)
c.2401A>T (p.Thr801Ser)
c.2632A>T (p.Thr878Ser)
c.1558A>T (p.Thr520Ser)
n.2613A>T
1g.151406277T>CCA341949097POGZc.2806A>G (p.Thr936Ala)
c.2599A>G (p.Thr867Ala)
c.2758A>G (p.Thr920Ala)
c.2779A>G (p.Thr927Ala)
n.2906A>G
c.2473A>G (p.Thr825Ala)
c.2731A>G (p.Thr911Ala)
c.2626A>G (p.Thr876Ala)
c.2572A>G (p.Thr858Ala)
c.2650A>G (p.Thr884Ala)
c.2401A>G (p.Thr801Ala)
c.2632A>G (p.Thr878Ala)
c.1558A>G (p.Thr520Ala)
n.2613A>G
1g.151406277T>GCA341949095POGZc.2806A>C (p.Thr936Pro)
c.2599A>C (p.Thr867Pro)
c.2758A>C (p.Thr920Pro)
c.2779A>C (p.Thr927Pro)
n.2906A>C
c.2473A>C (p.Thr825Pro)
c.2731A>C (p.Thr911Pro)
c.2626A>C (p.Thr876Pro)
c.2572A>C (p.Thr858Pro)
c.2650A>C (p.Thr884Pro)
c.2401A>C (p.Thr801Pro)
c.2632A>C (p.Thr878Pro)
c.1558A>C (p.Thr520Pro)
n.2613A>C
1g.151406278T>ACA420910246POGZc.2805A>T (p.Pro935=)
c.2598A>T (p.Pro866=)
c.2757A>T (p.Pro919=)
c.2778A>T (p.Pro926=)
n.2905A>T
c.2472A>T (p.Pro824=)
c.2730A>T (p.Pro910=)
c.2625A>T (p.Pro875=)
c.2571A>T (p.Pro857=)
c.2649A>T (p.Pro883=)
c.2400A>T (p.Pro800=)
c.2631A>T (p.Pro877=)
c.1557A>T (p.Pro519=)
n.2612A>T
1g.151406278T>CCA420910247POGZc.2805A>G (p.Pro935=)
c.2598A>G (p.Pro866=)
c.2757A>G (p.Pro919=)
c.2778A>G (p.Pro926=)
n.2905A>G
c.2472A>G (p.Pro824=)
c.2730A>G (p.Pro910=)
c.2625A>G (p.Pro875=)
c.2571A>G (p.Pro857=)
c.2649A>G (p.Pro883=)
c.2400A>G (p.Pro800=)
c.2631A>G (p.Pro877=)
c.1557A>G (p.Pro519=)
n.2612A>G
1g.151406278T>GCA420910248POGZc.2805A>C (p.Pro935=)
c.2598A>C (p.Pro866=)
c.2757A>C (p.Pro919=)
c.2778A>C (p.Pro926=)
n.2905A>C
c.2472A>C (p.Pro824=)
c.2730A>C (p.Pro910=)
c.2625A>C (p.Pro875=)
c.2571A>C (p.Pro857=)
c.2649A>C (p.Pro883=)
c.2400A>C (p.Pro800=)
c.2631A>C (p.Pro877=)
c.1557A>C (p.Pro519=)
n.2612A>C
1g.151406279G>ACA341949104POGZc.2804C>T (p.Pro935Leu)
c.2597C>T (p.Pro866Leu)
c.2756C>T (p.Pro919Leu)
c.2777C>T (p.Pro926Leu)
n.2904C>T
c.2471C>T (p.Pro824Leu)
c.2729C>T (p.Pro910Leu)
c.2624C>T (p.Pro875Leu)
c.2570C>T (p.Pro857Leu)
c.2648C>T (p.Pro883Leu)
c.2399C>T (p.Pro800Leu)
c.2630C>T (p.Pro877Leu)
c.1556C>T (p.Pro519Leu)
n.2611C>T
1g.151406279G>CCA341949109POGZc.2804C>G (p.Pro935Arg)
c.2597C>G (p.Pro866Arg)
c.2756C>G (p.Pro919Arg)
c.2777C>G (p.Pro926Arg)
n.2904C>G
c.2471C>G (p.Pro824Arg)
c.2729C>G (p.Pro910Arg)
c.2624C>G (p.Pro875Arg)
c.2570C>G (p.Pro857Arg)
c.2648C>G (p.Pro883Arg)
c.2399C>G (p.Pro800Arg)
c.2630C>G (p.Pro877Arg)
c.1556C>G (p.Pro519Arg)
n.2611C>G
1g.151406279G>TCA341949111POGZc.2804C>A (p.Pro935Gln)
c.2597C>A (p.Pro866Gln)
c.2756C>A (p.Pro919Gln)
c.2777C>A (p.Pro926Gln)
n.2904C>A
c.2471C>A (p.Pro824Gln)
c.2729C>A (p.Pro910Gln)
c.2624C>A (p.Pro875Gln)
c.2570C>A (p.Pro857Gln)
c.2648C>A (p.Pro883Gln)
c.2399C>A (p.Pro800Gln)
c.2630C>A (p.Pro877Gln)
c.1556C>A (p.Pro519Gln)
n.2611C>A
1g.151406280G>ACA341949115POGZc.2803C>T (p.Pro935Ser)
c.2596C>T (p.Pro866Ser)
c.2755C>T (p.Pro919Ser)
c.2776C>T (p.Pro926Ser)
n.2903C>T
c.2470C>T (p.Pro824Ser)
c.2728C>T (p.Pro910Ser)
c.2623C>T (p.Pro875Ser)
c.2569C>T (p.Pro857Ser)
c.2647C>T (p.Pro883Ser)
c.2398C>T (p.Pro800Ser)
c.2629C>T (p.Pro877Ser)
c.1555C>T (p.Pro519Ser)
n.2610C>T
 COSMIC COSMIC
1g.151406280G>CCA341949119POGZc.2803C>G (p.Pro935Ala)
c.2596C>G (p.Pro866Ala)
c.2755C>G (p.Pro919Ala)
c.2776C>G (p.Pro926Ala)
n.2903C>G
c.2470C>G (p.Pro824Ala)
c.2728C>G (p.Pro910Ala)
c.2623C>G (p.Pro875Ala)
c.2569C>G (p.Pro857Ala)
c.2647C>G (p.Pro883Ala)
c.2398C>G (p.Pro800Ala)
c.2629C>G (p.Pro877Ala)
c.1555C>G (p.Pro519Ala)
n.2610C>G
1g.151406280G>TCA341949121POGZc.2803C>A (p.Pro935Thr)
c.2596C>A (p.Pro866Thr)
c.2755C>A (p.Pro919Thr)
c.2776C>A (p.Pro926Thr)
n.2903C>A
c.2470C>A (p.Pro824Thr)
c.2728C>A (p.Pro910Thr)
c.2623C>A (p.Pro875Thr)
c.2569C>A (p.Pro857Thr)
c.2647C>A (p.Pro883Thr)
c.2398C>A (p.Pro800Thr)
c.2629C>A (p.Pro877Thr)
c.1555C>A (p.Pro519Thr)
n.2610C>A
1g.151406281T>ACA420910254POGZc.2802A>T (p.Pro934=)
c.2595A>T (p.Pro865=)
c.2754A>T (p.Pro918=)
c.2775A>T (p.Pro925=)
n.2902A>T
c.2469A>T (p.Pro823=)
c.2727A>T (p.Pro909=)
c.2622A>T (p.Pro874=)
c.2568A>T (p.Pro856=)
c.2646A>T (p.Pro882=)
c.2397A>T (p.Pro799=)
c.2628A>T (p.Pro876=)
c.1554A>T (p.Pro518=)
n.2609A>T
1g.151406281T>CCA1091069POGZc.2802A>G (p.Pro934=)
c.2595A>G (p.Pro865=)
c.2754A>G (p.Pro918=)
c.2775A>G (p.Pro925=)
n.2902A>G
c.2469A>G (p.Pro823=)
c.2727A>G (p.Pro909=)
c.2622A>G (p.Pro874=)
c.2568A>G (p.Pro856=)
c.2646A>G (p.Pro882=)
c.2397A>G (p.Pro799=)
c.2628A>G (p.Pro876=)
c.1554A>G (p.Pro518=)
n.2609A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406281T>GCA420910256POGZc.2802A>C (p.Pro934=)
c.2595A>C (p.Pro865=)
c.2754A>C (p.Pro918=)
c.2775A>C (p.Pro925=)
n.2902A>C
c.2469A>C (p.Pro823=)
c.2727A>C (p.Pro909=)
c.2622A>C (p.Pro874=)
c.2568A>C (p.Pro856=)
c.2646A>C (p.Pro882=)
c.2397A>C (p.Pro799=)
c.2628A>C (p.Pro876=)
c.1554A>C (p.Pro518=)
n.2609A>C
1g.151406281T=CA2479570589POGZc.2802A= (p.Pro934=)
c.2595A= (p.Pro865=)
c.2754A= (p.Pro918=)
c.2775A= (p.Pro925=)
n.2902A=
c.2469A= (p.Pro823=)
c.2727A= (p.Pro909=)
c.2622A= (p.Pro874=)
c.2568A= (p.Pro856=)
c.2646A= (p.Pro882=)
c.2397A= (p.Pro799=)
c.2628A= (p.Pro876=)
c.1554A= (p.Pro518=)
n.2609A=
1g.151406282G>ACA341949126POGZc.2801C>T (p.Pro934Leu)
c.2594C>T (p.Pro865Leu)
c.2753C>T (p.Pro918Leu)
c.2774C>T (p.Pro925Leu)
n.2901C>T
c.2468C>T (p.Pro823Leu)
c.2726C>T (p.Pro909Leu)
c.2621C>T (p.Pro874Leu)
c.2567C>T (p.Pro856Leu)
c.2645C>T (p.Pro882Leu)
c.2396C>T (p.Pro799Leu)
c.2627C>T (p.Pro876Leu)
c.1553C>T (p.Pro518Leu)
n.2608C>T
 gnomAD v4
1g.151406282G>CCA341949127POGZc.2801C>G (p.Pro934Arg)
c.2594C>G (p.Pro865Arg)
c.2753C>G (p.Pro918Arg)
c.2774C>G (p.Pro925Arg)
n.2901C>G
c.2468C>G (p.Pro823Arg)
c.2726C>G (p.Pro909Arg)
c.2621C>G (p.Pro874Arg)
c.2567C>G (p.Pro856Arg)
c.2645C>G (p.Pro882Arg)
c.2396C>G (p.Pro799Arg)
c.2627C>G (p.Pro876Arg)
c.1553C>G (p.Pro518Arg)
n.2608C>G
 gnomAD v4
1g.151406282G>TCA341949128POGZc.2801C>A (p.Pro934Gln)
c.2594C>A (p.Pro865Gln)
c.2753C>A (p.Pro918Gln)
c.2774C>A (p.Pro925Gln)
n.2901C>A
c.2468C>A (p.Pro823Gln)
c.2726C>A (p.Pro909Gln)
c.2621C>A (p.Pro874Gln)
c.2567C>A (p.Pro856Gln)
c.2645C>A (p.Pro882Gln)
c.2396C>A (p.Pro799Gln)
c.2627C>A (p.Pro876Gln)
c.1553C>A (p.Pro518Gln)
n.2608C>A
1g.151406283G>ACA341949131POGZc.2800C>T (p.Pro934Ser)
c.2593C>T (p.Pro865Ser)
c.2752C>T (p.Pro918Ser)
c.2773C>T (p.Pro925Ser)
n.2900C>T
c.2467C>T (p.Pro823Ser)
c.2725C>T (p.Pro909Ser)
c.2620C>T (p.Pro874Ser)
c.2566C>T (p.Pro856Ser)
c.2644C>T (p.Pro882Ser)
c.2395C>T (p.Pro799Ser)
c.2626C>T (p.Pro876Ser)
c.1552C>T (p.Pro518Ser)
n.2607C>T
1g.151406283G>CCA341949133POGZc.2800C>G (p.Pro934Ala)
c.2593C>G (p.Pro865Ala)
c.2752C>G (p.Pro918Ala)
c.2773C>G (p.Pro925Ala)
n.2900C>G
c.2467C>G (p.Pro823Ala)
c.2725C>G (p.Pro909Ala)
c.2620C>G (p.Pro874Ala)
c.2566C>G (p.Pro856Ala)
c.2644C>G (p.Pro882Ala)
c.2395C>G (p.Pro799Ala)
c.2626C>G (p.Pro876Ala)
c.1552C>G (p.Pro518Ala)
n.2607C>G
 gnomAD v4
1g.151406283G>TCA341949136POGZc.2800C>A (p.Pro934Thr)
c.2593C>A (p.Pro865Thr)
c.2752C>A (p.Pro918Thr)
c.2773C>A (p.Pro925Thr)
n.2900C>A
c.2467C>A (p.Pro823Thr)
c.2725C>A (p.Pro909Thr)
c.2620C>A (p.Pro874Thr)
c.2566C>A (p.Pro856Thr)
c.2644C>A (p.Pro882Thr)
c.2395C>A (p.Pro799Thr)
c.2626C>A (p.Pro876Thr)
c.1552C>A (p.Pro518Thr)
n.2607C>A
1g.151406284T>ACA420910262POGZc.2799A>T (p.Pro933=)
c.2592A>T (p.Pro864=)
c.2751A>T (p.Pro917=)
c.2772A>T (p.Pro924=)
n.2899A>T
c.2466A>T (p.Pro822=)
c.2724A>T (p.Pro908=)
c.2619A>T (p.Pro873=)
c.2565A>T (p.Pro855=)
c.2643A>T (p.Pro881=)
c.2394A>T (p.Pro798=)
c.2625A>T (p.Pro875=)
c.1551A>T (p.Pro517=)
n.2606A>T
1g.151406284T>CCA1091070POGZc.2799A>G (p.Pro933=)
c.2592A>G (p.Pro864=)
c.2751A>G (p.Pro917=)
c.2772A>G (p.Pro924=)
n.2899A>G
c.2466A>G (p.Pro822=)
c.2724A>G (p.Pro908=)
c.2619A>G (p.Pro873=)
c.2565A>G (p.Pro855=)
c.2643A>G (p.Pro881=)
c.2394A>G (p.Pro798=)
c.2625A>G (p.Pro875=)
c.1551A>G (p.Pro517=)
n.2606A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406284T>GCA420910264POGZc.2799A>C (p.Pro933=)
c.2592A>C (p.Pro864=)
c.2751A>C (p.Pro917=)
c.2772A>C (p.Pro924=)
n.2899A>C
c.2466A>C (p.Pro822=)
c.2724A>C (p.Pro908=)
c.2619A>C (p.Pro873=)
c.2565A>C (p.Pro855=)
c.2643A>C (p.Pro881=)
c.2394A>C (p.Pro798=)
c.2625A>C (p.Pro875=)
c.1551A>C (p.Pro517=)
n.2606A>C
1g.151406284T=CA2479570590POGZc.2799A= (p.Pro933=)
c.2592A= (p.Pro864=)
c.2751A= (p.Pro917=)
c.2772A= (p.Pro924=)
n.2899A=
c.2466A= (p.Pro822=)
c.2724A= (p.Pro908=)
c.2619A= (p.Pro873=)
c.2565A= (p.Pro855=)
c.2643A= (p.Pro881=)
c.2394A= (p.Pro798=)
c.2625A= (p.Pro875=)
c.1551A= (p.Pro517=)
n.2606A=
1g.151406285G>ACA341949143POGZc.2798C>T (p.Pro933Leu)
c.2591C>T (p.Pro864Leu)
c.2750C>T (p.Pro917Leu)
c.2771C>T (p.Pro924Leu)
n.2898C>T
c.2465C>T (p.Pro822Leu)
c.2723C>T (p.Pro908Leu)
c.2618C>T (p.Pro873Leu)
c.2564C>T (p.Pro855Leu)
c.2642C>T (p.Pro881Leu)
c.2393C>T (p.Pro798Leu)
c.2624C>T (p.Pro875Leu)
c.1550C>T (p.Pro517Leu)
n.2605C>T
1g.151406285G>CCA341949145POGZc.2798C>G (p.Pro933Arg)
c.2591C>G (p.Pro864Arg)
c.2750C>G (p.Pro917Arg)
c.2771C>G (p.Pro924Arg)
n.2898C>G
c.2465C>G (p.Pro822Arg)
c.2723C>G (p.Pro908Arg)
c.2618C>G (p.Pro873Arg)
c.2564C>G (p.Pro855Arg)
c.2642C>G (p.Pro881Arg)
c.2393C>G (p.Pro798Arg)
c.2624C>G (p.Pro875Arg)
c.1550C>G (p.Pro517Arg)
n.2605C>G
1g.151406285G>TCA341949147POGZc.2798C>A (p.Pro933Gln)
c.2591C>A (p.Pro864Gln)
c.2750C>A (p.Pro917Gln)
c.2771C>A (p.Pro924Gln)
n.2898C>A
c.2465C>A (p.Pro822Gln)
c.2723C>A (p.Pro908Gln)
c.2618C>A (p.Pro873Gln)
c.2564C>A (p.Pro855Gln)
c.2642C>A (p.Pro881Gln)
c.2393C>A (p.Pro798Gln)
c.2624C>A (p.Pro875Gln)
c.1550C>A (p.Pro517Gln)
n.2605C>A
1g.151406288dupCA319616POGZc.2798dup (p.Pro934ThrfsTer26)
c.2591dup (p.Pro865ThrfsTer26)
c.2750dup (p.Pro918ThrfsTer26)
c.2771dup (p.Pro925ThrfsTer26)
n.2898dup
c.2465dup (p.Pro823ThrfsTer26)
c.2723dup (p.Pro909ThrfsTer26)
c.2618dup (p.Pro874ThrfsTer26)
c.2564dup (p.Pro856ThrfsTer26)
c.2642dup (p.Pro882ThrfsTer26)
c.2393dup (p.Pro799ThrfsTer26)
c.2624dup (p.Pro876ThrfsTer26)
c.1550dup (p.Pro518ThrfsTer26)
n.2605dup
 ClinVar dbSNP
1g.151406286G>ACA1091071POGZc.2797C>T (p.Pro933Ser)
c.2590C>T (p.Pro864Ser)
c.2749C>T (p.Pro917Ser)
c.2770C>T (p.Pro924Ser)
n.2897C>T
c.2464C>T (p.Pro822Ser)
c.2722C>T (p.Pro908Ser)
c.2617C>T (p.Pro873Ser)
c.949C>T
c.2563C>T (p.Pro855Ser)
c.2641C>T (p.Pro881Ser)
c.2392C>T (p.Pro798Ser)
c.2623C>T (p.Pro875Ser)
c.1549C>T (p.Pro517Ser)
n.2604C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406286G>CCA341949151POGZc.2797C>G (p.Pro933Ala)
c.2590C>G (p.Pro864Ala)
c.2749C>G (p.Pro917Ala)
c.2770C>G (p.Pro924Ala)
n.2897C>G
c.2464C>G (p.Pro822Ala)
c.2722C>G (p.Pro908Ala)
c.2617C>G (p.Pro873Ala)
c.949C>G
c.2563C>G (p.Pro855Ala)
c.2641C>G (p.Pro881Ala)
c.2392C>G (p.Pro798Ala)
c.2623C>G (p.Pro875Ala)
c.1549C>G (p.Pro517Ala)
n.2604C>G
1g.151406286G=CA2479570591POGZc.2797C= (p.Pro933=)
c.2590C= (p.Pro864=)
c.2749C= (p.Pro917=)
c.2770C= (p.Pro924=)
n.2897C=
c.2464C= (p.Pro822=)
c.2722C= (p.Pro908=)
c.2617C= (p.Pro873=)
c.949C=
c.2563C= (p.Pro855=)
c.2641C= (p.Pro881=)
c.2392C= (p.Pro798=)
c.2623C= (p.Pro875=)
c.1549C= (p.Pro517=)
n.2604C=
1g.151406286G>TCA341949153POGZc.2797C>A (p.Pro933Thr)
c.2590C>A (p.Pro864Thr)
c.2749C>A (p.Pro917Thr)
c.2770C>A (p.Pro924Thr)
n.2897C>A
c.2464C>A (p.Pro822Thr)
c.2722C>A (p.Pro908Thr)
c.2617C>A (p.Pro873Thr)
c.949C>A
c.2563C>A (p.Pro855Thr)
c.2641C>A (p.Pro881Thr)
c.2392C>A (p.Pro798Thr)
c.2623C>A (p.Pro875Thr)
c.1549C>A (p.Pro517Thr)
n.2604C>A
1g.151406287G>ACA420910271POGZc.2796C>T (p.Thr932=)
c.2589C>T (p.Thr863=)
c.2748C>T (p.Thr916=)
c.2769C>T (p.Thr923=)
n.2896C>T
c.2463C>T (p.Thr821=)
c.2721C>T (p.Thr907=)
c.2616C>T (p.Thr872=)
c.948C>T (p.Thr316=)
c.2562C>T (p.Thr854=)
c.2640C>T (p.Thr880=)
c.2391C>T (p.Thr797=)
c.2622C>T (p.Thr874=)
c.1548C>T (p.Thr516=)
n.2603C>T
1g.151406287G>CCA420910272POGZc.2796C>G (p.Thr932=)
c.2589C>G (p.Thr863=)
c.2748C>G (p.Thr916=)
c.2769C>G (p.Thr923=)
n.2896C>G
c.2463C>G (p.Thr821=)
c.2721C>G (p.Thr907=)
c.2616C>G (p.Thr872=)
c.948C>G (p.Thr316=)
c.2562C>G (p.Thr854=)
c.2640C>G (p.Thr880=)
c.2391C>G (p.Thr797=)
c.2622C>G (p.Thr874=)
c.1548C>G (p.Thr516=)
n.2603C>G
1g.151406287G>TCA420910273POGZc.2796C>A (p.Thr932=)
c.2589C>A (p.Thr863=)
c.2748C>A (p.Thr916=)
c.2769C>A (p.Thr923=)
n.2896C>A
c.2463C>A (p.Thr821=)
c.2721C>A (p.Thr907=)
c.2616C>A (p.Thr872=)
c.948C>A (p.Thr316=)
c.2562C>A (p.Thr854=)
c.2640C>A (p.Thr880=)
c.2391C>A (p.Thr797=)
c.2622C>A (p.Thr874=)
c.1548C>A (p.Thr516=)
n.2603C>A
 gnomAD v4
1g.151406288G>ACA341949155POGZc.2795C>T (p.Thr932Ile)
c.2588C>T (p.Thr863Ile)
c.2747C>T (p.Thr916Ile)
c.2768C>T (p.Thr923Ile)
n.2895C>T
c.2462C>T (p.Thr821Ile)
c.2720C>T (p.Thr907Ile)
c.2615C>T (p.Thr872Ile)
c.947C>T (p.Thr316Ile)
c.2561C>T (p.Thr854Ile)
c.2639C>T (p.Thr880Ile)
c.2390C>T (p.Thr797Ile)
c.2621C>T (p.Thr874Ile)
c.1547C>T (p.Thr516Ile)
n.2602C>T
1g.151406288G>CCA341949157POGZc.2795C>G (p.Thr932Ser)
c.2588C>G (p.Thr863Ser)
c.2747C>G (p.Thr916Ser)
c.2768C>G (p.Thr923Ser)
n.2895C>G
c.2462C>G (p.Thr821Ser)
c.2720C>G (p.Thr907Ser)
c.2615C>G (p.Thr872Ser)
c.947C>G (p.Thr316Ser)
c.2561C>G (p.Thr854Ser)
c.2639C>G (p.Thr880Ser)
c.2390C>G (p.Thr797Ser)
c.2621C>G (p.Thr874Ser)
c.1547C>G (p.Thr516Ser)
n.2602C>G
 gnomAD v4
1g.151406288G>TCA341949158POGZc.2795C>A (p.Thr932Asn)
c.2588C>A (p.Thr863Asn)
c.2747C>A (p.Thr916Asn)
c.2768C>A (p.Thr923Asn)
n.2895C>A
c.2462C>A (p.Thr821Asn)
c.2720C>A (p.Thr907Asn)
c.2615C>A (p.Thr872Asn)
c.947C>A (p.Thr316Asn)
c.2561C>A (p.Thr854Asn)
c.2639C>A (p.Thr880Asn)
c.2390C>A (p.Thr797Asn)
c.2621C>A (p.Thr874Asn)
c.1547C>A (p.Thr516Asn)
n.2602C>A
1g.151406289T>ACA1091072POGZc.2794A>T (p.Thr932Ser)
c.2587A>T (p.Thr863Ser)
c.2746A>T (p.Thr916Ser)
c.2767A>T (p.Thr923Ser)
n.2894A>T
c.2461A>T (p.Thr821Ser)
c.2719A>T (p.Thr907Ser)
c.2614A>T (p.Thr872Ser)
c.946A>T (p.Thr316Ser)
c.2560A>T (p.Thr854Ser)
c.2638A>T (p.Thr880Ser)
c.2389A>T (p.Thr797Ser)
c.2620A>T (p.Thr874Ser)
c.1546A>T (p.Thr516Ser)
n.2601A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406289T>CCA341949162POGZc.2794A>G (p.Thr932Ala)
c.2587A>G (p.Thr863Ala)
c.2746A>G (p.Thr916Ala)
c.2767A>G (p.Thr923Ala)
n.2894A>G
c.2461A>G (p.Thr821Ala)
c.2719A>G (p.Thr907Ala)
c.2614A>G (p.Thr872Ala)
c.946A>G (p.Thr316Ala)
c.2560A>G (p.Thr854Ala)
c.2638A>G (p.Thr880Ala)
c.2389A>G (p.Thr797Ala)
c.2620A>G (p.Thr874Ala)
c.1546A>G (p.Thr516Ala)
n.2601A>G
 gnomAD v4
1g.151406289T>GCA341949163POGZc.2794A>C (p.Thr932Pro)
c.2587A>C (p.Thr863Pro)
c.2746A>C (p.Thr916Pro)
c.2767A>C (p.Thr923Pro)
n.2894A>C
c.2461A>C (p.Thr821Pro)
c.2719A>C (p.Thr907Pro)
c.2614A>C (p.Thr872Pro)
c.946A>C (p.Thr316Pro)
c.2560A>C (p.Thr854Pro)
c.2638A>C (p.Thr880Pro)
c.2389A>C (p.Thr797Pro)
c.2620A>C (p.Thr874Pro)
c.1546A>C (p.Thr516Pro)
n.2601A>C
 dbSNP
1g.151406289T=CA1144163607POGZc.2794A= (p.Thr932=)
c.2587A= (p.Thr863=)
c.2746A= (p.Thr916=)
c.2767A= (p.Thr923=)
n.2894A=
c.2461A= (p.Thr821=)
c.2719A= (p.Thr907=)
c.2614A= (p.Thr872=)
c.946A= (p.Thr316=)
c.2560A= (p.Thr854=)
c.2638A= (p.Thr880=)
c.2389A= (p.Thr797=)
c.2620A= (p.Thr874=)
c.1546A= (p.Thr516=)
n.2601A=
1g.151406290delCA2586964173POGZc.2794del (p.Thr932ProfsTer12)
c.2587del (p.Thr863ProfsTer12)
c.2746del (p.Thr916ProfsTer12)
c.2767del (p.Thr923ProfsTer12)
n.2894del
c.2461del (p.Thr821ProfsTer12)
c.2719del (p.Thr907ProfsTer12)
c.2614del (p.Thr872ProfsTer12)
c.946del (p.Thr316ProfsTer?)
c.2560del (p.Thr854ProfsTer12)
c.2638del (p.Thr880ProfsTer12)
c.2389del (p.Thr797ProfsTer12)
c.2620del (p.Thr874ProfsTer12)
c.1546del (p.Thr516ProfsTer12)
n.2601del
1g.151406290T>ACA420910284POGZc.2793A>T (p.Ala931=)
c.2586A>T (p.Ala862=)
c.2745A>T (p.Ala915=)
c.2766A>T (p.Ala922=)
n.2893A>T
c.2460A>T (p.Ala820=)
c.2718A>T (p.Ala906=)
c.2613A>T (p.Ala871=)
c.945A>T (p.Ala315=)
c.2559A>T (p.Ala853=)
c.2637A>T (p.Ala879=)
c.2388A>T (p.Ala796=)
c.2619A>T (p.Ala873=)
c.1545A>T (p.Ala515=)
n.2600A>T
1g.151406290T>CCA420910285POGZc.2793A>G (p.Ala931=)
c.2586A>G (p.Ala862=)
c.2745A>G (p.Ala915=)
c.2766A>G (p.Ala922=)
n.2893A>G
c.2460A>G (p.Ala820=)
c.2718A>G (p.Ala906=)
c.2613A>G (p.Ala871=)
c.945A>G (p.Ala315=)
c.2559A>G (p.Ala853=)
c.2637A>G (p.Ala879=)
c.2388A>G (p.Ala796=)
c.2619A>G (p.Ala873=)
c.1545A>G (p.Ala515=)
n.2600A>G
1g.151406290T>GCA420910286POGZc.2793A>C (p.Ala931=)
c.2586A>C (p.Ala862=)
c.2745A>C (p.Ala915=)
c.2766A>C (p.Ala922=)
n.2893A>C
c.2460A>C (p.Ala820=)
c.2718A>C (p.Ala906=)
c.2613A>C (p.Ala871=)
c.945A>C (p.Ala315=)
c.2559A>C (p.Ala853=)
c.2637A>C (p.Ala879=)
c.2388A>C (p.Ala796=)
c.2619A>C (p.Ala873=)
c.1545A>C (p.Ala515=)
n.2600A>C
1g.151406291G>ACA341949173POGZc.2792C>T (p.Ala931Val)
c.2585C>T (p.Ala862Val)
c.2744C>T (p.Ala915Val)
c.2765C>T (p.Ala922Val)
n.2892C>T
c.2459C>T (p.Ala820Val)
c.2717C>T (p.Ala906Val)
c.2612C>T (p.Ala871Val)
c.944C>T (p.Ala315Val)
c.2558C>T (p.Ala853Val)
c.2636C>T (p.Ala879Val)
c.2387C>T (p.Ala796Val)
c.2618C>T (p.Ala873Val)
c.1544C>T (p.Ala515Val)
n.2599C>T
1g.151406291G>CCA341949170POGZc.2792C>G (p.Ala931Gly)
c.2585C>G (p.Ala862Gly)
c.2744C>G (p.Ala915Gly)
c.2765C>G (p.Ala922Gly)
n.2892C>G
c.2459C>G (p.Ala820Gly)
c.2717C>G (p.Ala906Gly)
c.2612C>G (p.Ala871Gly)
c.944C>G (p.Ala315Gly)
c.2558C>G (p.Ala853Gly)
c.2636C>G (p.Ala879Gly)
c.2387C>G (p.Ala796Gly)
c.2618C>G (p.Ala873Gly)
c.1544C>G (p.Ala515Gly)
n.2599C>G
1g.151406291G>TCA341949167POGZc.2792C>A (p.Ala931Glu)
c.2585C>A (p.Ala862Glu)
c.2744C>A (p.Ala915Glu)
c.2765C>A (p.Ala922Glu)
n.2892C>A
c.2459C>A (p.Ala820Glu)
c.2717C>A (p.Ala906Glu)
c.2612C>A (p.Ala871Glu)
c.944C>A (p.Ala315Glu)
c.2558C>A (p.Ala853Glu)
c.2636C>A (p.Ala879Glu)
c.2387C>A (p.Ala796Glu)
c.2618C>A (p.Ala873Glu)
c.1544C>A (p.Ala515Glu)
n.2599C>A
1g.151406292C>ACA1091073POGZc.2791G>T (p.Ala931Ser)
c.2584G>T (p.Ala862Ser)
c.2743G>T (p.Ala915Ser)
c.2764G>T (p.Ala922Ser)
n.2891G>T
c.2458G>T (p.Ala820Ser)
c.2716G>T (p.Ala906Ser)
c.2611G>T (p.Ala871Ser)
c.943G>T (p.Ala315Ser)
c.2557G>T (p.Ala853Ser)
c.2635G>T (p.Ala879Ser)
c.2386G>T (p.Ala796Ser)
c.2617G>T (p.Ala873Ser)
c.1543G>T (p.Ala515Ser)
n.2598G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406292C=CA2479570592POGZc.2791G= (p.Ala931=)
c.2584G= (p.Ala862=)
c.2743G= (p.Ala915=)
c.2764G= (p.Ala922=)
n.2891G=
c.2458G= (p.Ala820=)
c.2716G= (p.Ala906=)
c.2611G= (p.Ala871=)
c.943G= (p.Ala315=)
c.2557G= (p.Ala853=)
c.2635G= (p.Ala879=)
c.2386G= (p.Ala796=)
c.2617G= (p.Ala873=)
c.1543G= (p.Ala515=)
n.2598G=
1g.151406292C>GCA341949181POGZc.2791G>C (p.Ala931Pro)
c.2584G>C (p.Ala862Pro)
c.2743G>C (p.Ala915Pro)
c.2764G>C (p.Ala922Pro)
n.2891G>C
c.2458G>C (p.Ala820Pro)
c.2716G>C (p.Ala906Pro)
c.2611G>C (p.Ala871Pro)
c.943G>C (p.Ala315Pro)
c.2557G>C (p.Ala853Pro)
c.2635G>C (p.Ala879Pro)
c.2386G>C (p.Ala796Pro)
c.2617G>C (p.Ala873Pro)
c.1543G>C (p.Ala515Pro)
n.2598G>C
1g.151406292C>TCA29569379POGZc.2791G>A (p.Ala931Thr)
c.2584G>A (p.Ala862Thr)
c.2743G>A (p.Ala915Thr)
c.2764G>A (p.Ala922Thr)
n.2891G>A
c.2458G>A (p.Ala820Thr)
c.2716G>A (p.Ala906Thr)
c.2611G>A (p.Ala871Thr)
c.943G>A (p.Ala315Thr)
c.2557G>A (p.Ala853Thr)
c.2635G>A (p.Ala879Thr)
c.2386G>A (p.Ala796Thr)
c.2617G>A (p.Ala873Thr)
c.1543G>A (p.Ala515Thr)
n.2598G>A
 dbSNP gnomAD v4
1g.151406292_151406293dupCA2573051361POGZc.2790_2791dup (p.Ala931ValfsTer14)
c.2583_2584dup (p.Ala862ValfsTer14)
c.2742_2743dup (p.Ala915ValfsTer14)
c.2763_2764dup (p.Ala922ValfsTer14)
n.2890_2891dup
c.2457_2458dup (p.Ala820ValfsTer14)
c.2715_2716dup (p.Ala906ValfsTer14)
c.2610_2611dup (p.Ala871ValfsTer14)
c.942_943dup (p.Ala315ValfsTer?)
c.2556_2557dup (p.Ala853ValfsTer14)
c.2634_2635dup (p.Ala879ValfsTer14)
c.2385_2386dup (p.Ala796ValfsTer14)
c.2616_2617dup (p.Ala873ValfsTer14)
c.1542_1543dup (p.Ala515ValfsTer14)
n.2597_2598dup
 ClinVar dbSNP
1g.151406293A>CCA420910296POGZc.2790T>G (p.Thr930=)
c.2583T>G (p.Thr861=)
c.2742T>G (p.Thr914=)
c.2763T>G (p.Thr921=)
n.2890T>G
c.2457T>G (p.Thr819=)
c.2715T>G (p.Thr905=)
c.2610T>G (p.Thr870=)
c.942T>G (p.Thr314=)
c.2556T>G (p.Thr852=)
c.2634T>G (p.Thr878=)
c.2385T>G (p.Thr795=)
c.2616T>G (p.Thr872=)
c.1542T>G (p.Thr514=)
n.2597T>G
1g.151406293A>GCA420910300POGZc.2790T>C (p.Thr930=)
c.2583T>C (p.Thr861=)
c.2742T>C (p.Thr914=)
c.2763T>C (p.Thr921=)
n.2890T>C
c.2457T>C (p.Thr819=)
c.2715T>C (p.Thr905=)
c.2610T>C (p.Thr870=)
c.942T>C (p.Thr314=)
c.2556T>C (p.Thr852=)
c.2634T>C (p.Thr878=)
c.2385T>C (p.Thr795=)
c.2616T>C (p.Thr872=)
c.1542T>C (p.Thr514=)
n.2597T>C
1g.151406293A>TCA420910297POGZc.2790T>A (p.Thr930=)
c.2583T>A (p.Thr861=)
c.2742T>A (p.Thr914=)
c.2763T>A (p.Thr921=)
n.2890T>A
c.2457T>A (p.Thr819=)
c.2715T>A (p.Thr905=)
c.2610T>A (p.Thr870=)
c.942T>A (p.Thr314=)
c.2556T>A (p.Thr852=)
c.2634T>A (p.Thr878=)
c.2385T>A (p.Thr795=)
c.2616T>A (p.Thr872=)
c.1542T>A (p.Thr514=)
n.2597T>A
1g.151406294G>ACA341949188POGZc.2789C>T (p.Thr930Ile)
c.2582C>T (p.Thr861Ile)
c.2741C>T (p.Thr914Ile)
c.2762C>T (p.Thr921Ile)
n.2889C>T
c.2456C>T (p.Thr819Ile)
c.2714C>T (p.Thr905Ile)
c.2609C>T (p.Thr870Ile)
c.941C>T (p.Thr314Ile)
c.2555C>T (p.Thr852Ile)
c.2633C>T (p.Thr878Ile)
c.2384C>T (p.Thr795Ile)
c.2615C>T (p.Thr872Ile)
c.1541C>T (p.Thr514Ile)
n.2596C>T
 gnomAD v4
1g.151406294G>CCA341949191POGZc.2789C>G (p.Thr930Ser)
c.2582C>G (p.Thr861Ser)
c.2741C>G (p.Thr914Ser)
c.2762C>G (p.Thr921Ser)
n.2889C>G
c.2456C>G (p.Thr819Ser)
c.2714C>G (p.Thr905Ser)
c.2609C>G (p.Thr870Ser)
c.941C>G (p.Thr314Ser)
c.2555C>G (p.Thr852Ser)
c.2633C>G (p.Thr878Ser)
c.2384C>G (p.Thr795Ser)
c.2615C>G (p.Thr872Ser)
c.1541C>G (p.Thr514Ser)
n.2596C>G
 gnomAD v4
1g.151406294G>TCA341949193POGZc.2789C>A (p.Thr930Asn)
c.2582C>A (p.Thr861Asn)
c.2741C>A (p.Thr914Asn)
c.2762C>A (p.Thr921Asn)
n.2889C>A
c.2456C>A (p.Thr819Asn)
c.2714C>A (p.Thr905Asn)
c.2609C>A (p.Thr870Asn)
c.941C>A (p.Thr314Asn)
c.2555C>A (p.Thr852Asn)
c.2633C>A (p.Thr878Asn)
c.2384C>A (p.Thr795Asn)
c.2615C>A (p.Thr872Asn)
c.1541C>A (p.Thr514Asn)
n.2596C>A
1g.151406295T>ACA341949198POGZc.2788A>T (p.Thr930Ser)
c.2581A>T (p.Thr861Ser)
c.2740A>T (p.Thr914Ser)
c.2761A>T (p.Thr921Ser)
n.2888A>T
c.2455A>T (p.Thr819Ser)
c.2713A>T (p.Thr905Ser)
c.2608A>T (p.Thr870Ser)
c.940A>T (p.Thr314Ser)
c.2554A>T (p.Thr852Ser)
c.2632A>T (p.Thr878Ser)
c.2383A>T (p.Thr795Ser)
c.2614A>T (p.Thr872Ser)
c.1540A>T (p.Thr514Ser)
n.2595A>T
1g.151406295T>CCA341949201POGZc.2788A>G (p.Thr930Ala)
c.2581A>G (p.Thr861Ala)
c.2740A>G (p.Thr914Ala)
c.2761A>G (p.Thr921Ala)
n.2888A>G
c.2455A>G (p.Thr819Ala)
c.2713A>G (p.Thr905Ala)
c.2608A>G (p.Thr870Ala)
c.940A>G (p.Thr314Ala)
c.2554A>G (p.Thr852Ala)
c.2632A>G (p.Thr878Ala)
c.2383A>G (p.Thr795Ala)
c.2614A>G (p.Thr872Ala)
c.1540A>G (p.Thr514Ala)
n.2595A>G
1g.151406295T>GCA341949203POGZc.2788A>C (p.Thr930Pro)
c.2581A>C (p.Thr861Pro)
c.2740A>C (p.Thr914Pro)
c.2761A>C (p.Thr921Pro)
n.2888A>C
c.2455A>C (p.Thr819Pro)
c.2713A>C (p.Thr905Pro)
c.2608A>C (p.Thr870Pro)
c.940A>C (p.Thr314Pro)
c.2554A>C (p.Thr852Pro)
c.2632A>C (p.Thr878Pro)
c.2383A>C (p.Thr795Pro)
c.2614A>C (p.Thr872Pro)
c.1540A>C (p.Thr514Pro)
n.2595A>C
1g.151406296T>ACA420910306POGZc.2787A>T (p.Ser929=)
c.2580A>T (p.Ser860=)
c.2739A>T (p.Ser913=)
c.2760A>T (p.Ser920=)
n.2887A>T
c.2454A>T (p.Ser818=)
c.2712A>T (p.Ser904=)
c.2607A>T (p.Ser869=)
c.939A>T (p.Ser313=)
c.2553A>T (p.Ser851=)
c.2631A>T (p.Ser877=)
c.2382A>T (p.Ser794=)
c.2613A>T (p.Ser871=)
c.1539A>T (p.Ser513=)
n.2594A>T
1g.151406296T>CCA420910307POGZc.2787A>G (p.Ser929=)
c.2580A>G (p.Ser860=)
c.2739A>G (p.Ser913=)
c.2760A>G (p.Ser920=)
n.2887A>G
c.2454A>G (p.Ser818=)
c.2712A>G (p.Ser904=)
c.2607A>G (p.Ser869=)
c.939A>G (p.Ser313=)
c.2553A>G (p.Ser851=)
c.2631A>G (p.Ser877=)
c.2382A>G (p.Ser794=)
c.2613A>G (p.Ser871=)
c.1539A>G (p.Ser513=)
n.2594A>G
 dbSNP gnomAD v3 gnomAD v4
1g.151406296T>GCA420910308POGZc.2787A>C (p.Ser929=)
c.2580A>C (p.Ser860=)
c.2739A>C (p.Ser913=)
c.2760A>C (p.Ser920=)
n.2887A>C
c.2454A>C (p.Ser818=)
c.2712A>C (p.Ser904=)
c.2607A>C (p.Ser869=)
c.939A>C (p.Ser313=)
c.2553A>C (p.Ser851=)
c.2631A>C (p.Ser877=)
c.2382A>C (p.Ser794=)
c.2613A>C (p.Ser871=)
c.1539A>C (p.Ser513=)
n.2594A>C
1g.151406296T=CA2479570593POGZc.2787A= (p.Ser929=)
c.2580A= (p.Ser860=)
c.2739A= (p.Ser913=)
c.2760A= (p.Ser920=)
n.2887A=
c.2454A= (p.Ser818=)
c.2712A= (p.Ser904=)
c.2607A= (p.Ser869=)
c.939A= (p.Ser313=)
c.2553A= (p.Ser851=)
c.2631A= (p.Ser877=)
c.2382A= (p.Ser794=)
c.2613A= (p.Ser871=)
c.1539A= (p.Ser513=)
n.2594A=
1g.151406297G>ACA341949208POGZc.2786C>T (p.Ser929Leu)
c.2579C>T (p.Ser860Leu)
c.2738C>T (p.Ser913Leu)
c.2759C>T (p.Ser920Leu)
n.2886C>T
c.2453C>T (p.Ser818Leu)
c.2711C>T (p.Ser904Leu)
c.2606C>T (p.Ser869Leu)
c.938C>T (p.Ser313Leu)
c.2552C>T (p.Ser851Leu)
c.2630C>T (p.Ser877Leu)
c.2381C>T (p.Ser794Leu)
c.2612C>T (p.Ser871Leu)
c.1538C>T (p.Ser513Leu)
n.2593C>T
1g.151406297G>CCA341949211POGZc.2786C>G (p.Ser929Ter)
c.2579C>G (p.Ser860Ter)
c.2738C>G (p.Ser913Ter)
c.2759C>G (p.Ser920Ter)
n.2886C>G
c.2453C>G (p.Ser818Ter)
c.2711C>G (p.Ser904Ter)
c.2606C>G (p.Ser869Ter)
c.938C>G (p.Ser313Ter)
c.2552C>G (p.Ser851Ter)
c.2630C>G (p.Ser877Ter)
c.2381C>G (p.Ser794Ter)
c.2612C>G (p.Ser871Ter)
c.1538C>G (p.Ser513Ter)
n.2593C>G
1g.151406297G>TCA341949214POGZc.2786C>A (p.Ser929Ter)
c.2579C>A (p.Ser860Ter)
c.2738C>A (p.Ser913Ter)
c.2759C>A (p.Ser920Ter)
n.2886C>A
c.2453C>A (p.Ser818Ter)
c.2711C>A (p.Ser904Ter)
c.2606C>A (p.Ser869Ter)
c.938C>A (p.Ser313Ter)
c.2552C>A (p.Ser851Ter)
c.2630C>A (p.Ser877Ter)
c.2381C>A (p.Ser794Ter)
c.2612C>A (p.Ser871Ter)
c.1538C>A (p.Ser513Ter)
n.2593C>A
1g.151406298A>CCA341949221POGZc.2785T>G (p.Ser929Ala)
c.2578T>G (p.Ser860Ala)
c.2737T>G (p.Ser913Ala)
c.2758T>G (p.Ser920Ala)
n.2885T>G
c.2452T>G (p.Ser818Ala)
c.2710T>G (p.Ser904Ala)
c.2605T>G (p.Ser869Ala)
c.937T>G (p.Ser313Ala)
c.2551T>G (p.Ser851Ala)
c.2629T>G (p.Ser877Ala)
c.2380T>G (p.Ser794Ala)
c.2611T>G (p.Ser871Ala)
c.1537T>G (p.Ser513Ala)
n.2592T>G
1g.151406298A>GCA341949219POGZc.2785T>C (p.Ser929Pro)
c.2578T>C (p.Ser860Pro)
c.2737T>C (p.Ser913Pro)
c.2758T>C (p.Ser920Pro)
n.2885T>C
c.2452T>C (p.Ser818Pro)
c.2710T>C (p.Ser904Pro)
c.2605T>C (p.Ser869Pro)
c.937T>C (p.Ser313Pro)
c.2551T>C (p.Ser851Pro)
c.2629T>C (p.Ser877Pro)
c.2380T>C (p.Ser794Pro)
c.2611T>C (p.Ser871Pro)
c.1537T>C (p.Ser513Pro)
n.2592T>C
1g.151406298A>TCA341949218POGZc.2785T>A (p.Ser929Thr)
c.2578T>A (p.Ser860Thr)
c.2737T>A (p.Ser913Thr)
c.2758T>A (p.Ser920Thr)
n.2885T>A
c.2452T>A (p.Ser818Thr)
c.2710T>A (p.Ser904Thr)
c.2605T>A (p.Ser869Thr)
c.937T>A (p.Ser313Thr)
c.2551T>A (p.Ser851Thr)
c.2629T>A (p.Ser877Thr)
c.2380T>A (p.Ser794Thr)
c.2611T>A (p.Ser871Thr)
c.1537T>A (p.Ser513Thr)
n.2592T>A
1g.151406299G>ACA420910316POGZc.2784C>T (p.Ala928=)
c.2577C>T (p.Ala859=)
c.2736C>T (p.Ala912=)
c.2757C>T (p.Ala919=)
n.2884C>T
c.2451C>T (p.Ala817=)
c.2709C>T (p.Ala903=)
c.2604C>T (p.Ala868=)
c.936C>T (p.Ala312=)
c.2550C>T (p.Ala850=)
c.2628C>T (p.Ala876=)
c.2379C>T (p.Ala793=)
c.2610C>T (p.Ala870=)
c.1536C>T (p.Ala512=)
n.2591C>T
 gnomAD v4
1g.151406299G>CCA420910317POGZc.2784C>G (p.Ala928=)
c.2577C>G (p.Ala859=)
c.2736C>G (p.Ala912=)
c.2757C>G (p.Ala919=)
n.2884C>G
c.2451C>G (p.Ala817=)
c.2709C>G (p.Ala903=)
c.2604C>G (p.Ala868=)
c.936C>G (p.Ala312=)
c.2550C>G (p.Ala850=)
c.2628C>G (p.Ala876=)
c.2379C>G (p.Ala793=)
c.2610C>G (p.Ala870=)
c.1536C>G (p.Ala512=)
n.2591C>G
1g.151406299G>TCA420910318POGZc.2784C>A (p.Ala928=)
c.2577C>A (p.Ala859=)
c.2736C>A (p.Ala912=)
c.2757C>A (p.Ala919=)
n.2884C>A
c.2451C>A (p.Ala817=)
c.2709C>A (p.Ala903=)
c.2604C>A (p.Ala868=)
c.936C>A (p.Ala312=)
c.2550C>A (p.Ala850=)
c.2628C>A (p.Ala876=)
c.2379C>A (p.Ala793=)
c.2610C>A (p.Ala870=)
c.1536C>A (p.Ala512=)
n.2591C>A
1g.151406300G>ACA341949228POGZc.2783C>T (p.Ala928Val)
c.2576C>T (p.Ala859Val)
c.2735C>T (p.Ala912Val)
c.2756C>T (p.Ala919Val)
n.2883C>T
c.2450C>T (p.Ala817Val)
c.2708C>T (p.Ala903Val)
c.2603C>T (p.Ala868Val)
c.935C>T (p.Ala312Val)
c.2549C>T (p.Ala850Val)
c.2627C>T (p.Ala876Val)
c.2378C>T (p.Ala793Val)
c.2609C>T (p.Ala870Val)
c.1535C>T (p.Ala512Val)
n.2590C>T
 dbSNP
1g.151406300G>CCA341949230POGZc.2783C>G (p.Ala928Gly)
c.2576C>G (p.Ala859Gly)
c.2735C>G (p.Ala912Gly)
c.2756C>G (p.Ala919Gly)
n.2883C>G
c.2450C>G (p.Ala817Gly)
c.2708C>G (p.Ala903Gly)
c.2603C>G (p.Ala868Gly)
c.935C>G (p.Ala312Gly)
c.2549C>G (p.Ala850Gly)
c.2627C>G (p.Ala876Gly)
c.2378C>G (p.Ala793Gly)
c.2609C>G (p.Ala870Gly)
c.1535C>G (p.Ala512Gly)
n.2590C>G
1g.151406300G=CA2479570594POGZc.2783C= (p.Ala928=)
c.2576C= (p.Ala859=)
c.2735C= (p.Ala912=)
c.2756C= (p.Ala919=)
n.2883C=
c.2450C= (p.Ala817=)
c.2708C= (p.Ala903=)
c.2603C= (p.Ala868=)
c.935C= (p.Ala312=)
c.2549C= (p.Ala850=)
c.2627C= (p.Ala876=)
c.2378C= (p.Ala793=)
c.2609C= (p.Ala870=)
c.1535C= (p.Ala512=)
n.2590C=
1g.151406300G>TCA341949233POGZc.2783C>A (p.Ala928Asp)
c.2576C>A (p.Ala859Asp)
c.2735C>A (p.Ala912Asp)
c.2756C>A (p.Ala919Asp)
n.2883C>A
c.2450C>A (p.Ala817Asp)
c.2708C>A (p.Ala903Asp)
c.2603C>A (p.Ala868Asp)
c.935C>A (p.Ala312Asp)
c.2549C>A (p.Ala850Asp)
c.2627C>A (p.Ala876Asp)
c.2378C>A (p.Ala793Asp)
c.2609C>A (p.Ala870Asp)
c.1535C>A (p.Ala512Asp)
n.2590C>A
1g.151406301C>ACA341949236POGZc.2782G>T (p.Ala928Ser)
c.2575G>T (p.Ala859Ser)
c.2734G>T (p.Ala912Ser)
c.2755G>T (p.Ala919Ser)
n.2882G>T
c.2449G>T (p.Ala817Ser)
c.2707G>T (p.Ala903Ser)
c.2602G>T (p.Ala868Ser)
c.934G>T (p.Ala312Ser)
c.2548G>T (p.Ala850Ser)
c.2626G>T (p.Ala876Ser)
c.2377G>T (p.Ala793Ser)
c.2608G>T (p.Ala870Ser)
c.1534G>T (p.Ala512Ser)
n.2589G>T
 dbSNP
1g.151406301C=CA2479570595POGZc.2782G= (p.Ala928=)
c.2575G= (p.Ala859=)
c.2734G= (p.Ala912=)
c.2755G= (p.Ala919=)
n.2882G=
c.2449G= (p.Ala817=)
c.2707G= (p.Ala903=)
c.2602G= (p.Ala868=)
c.934G= (p.Ala312=)
c.2548G= (p.Ala850=)
c.2626G= (p.Ala876=)
c.2377G= (p.Ala793=)
c.2608G= (p.Ala870=)
c.1534G= (p.Ala512=)
n.2589G=
1g.151406301C>GCA341949238POGZc.2782G>C (p.Ala928Pro)
c.2575G>C (p.Ala859Pro)
c.2734G>C (p.Ala912Pro)
c.2755G>C (p.Ala919Pro)
n.2882G>C
c.2449G>C (p.Ala817Pro)
c.2707G>C (p.Ala903Pro)
c.2602G>C (p.Ala868Pro)
c.934G>C (p.Ala312Pro)
c.2548G>C (p.Ala850Pro)
c.2626G>C (p.Ala876Pro)
c.2377G>C (p.Ala793Pro)
c.2608G>C (p.Ala870Pro)
c.1534G>C (p.Ala512Pro)
n.2589G>C
1g.151406301C>TCA341949240POGZc.2782G>A (p.Ala928Thr)
c.2575G>A (p.Ala859Thr)
c.2734G>A (p.Ala912Thr)
c.2755G>A (p.Ala919Thr)
n.2882G>A
c.2449G>A (p.Ala817Thr)
c.2707G>A (p.Ala903Thr)
c.2602G>A (p.Ala868Thr)
c.934G>A (p.Ala312Thr)
c.2548G>A (p.Ala850Thr)
c.2626G>A (p.Ala876Thr)
c.2377G>A (p.Ala793Thr)
c.2608G>A (p.Ala870Thr)
c.1534G>A (p.Ala512Thr)
n.2589G>A
1g.151406302T>ACA420910324POGZc.2781A>T (p.Pro927=)
c.2574A>T (p.Pro858=)
c.2733A>T (p.Pro911=)
c.2754A>T (p.Pro918=)
n.2881A>T
c.2448A>T (p.Pro816=)
c.2706A>T (p.Pro902=)
c.2601A>T (p.Pro867=)
c.933A>T (p.Pro311=)
c.2547A>T (p.Pro849=)
c.2625A>T (p.Pro875=)
c.2376A>T (p.Pro792=)
c.2607A>T (p.Pro869=)
c.1533A>T (p.Pro511=)
n.2588A>T
1g.151406302T>CCA420910325POGZc.2781A>G (p.Pro927=)
c.2574A>G (p.Pro858=)
c.2733A>G (p.Pro911=)
c.2754A>G (p.Pro918=)
n.2881A>G
c.2448A>G (p.Pro816=)
c.2706A>G (p.Pro902=)
c.2601A>G (p.Pro867=)
c.933A>G (p.Pro311=)
c.2547A>G (p.Pro849=)
c.2625A>G (p.Pro875=)
c.2376A>G (p.Pro792=)
c.2607A>G (p.Pro869=)
c.1533A>G (p.Pro511=)
n.2588A>G
1g.151406302T>GCA420910327POGZc.2781A>C (p.Pro927=)
c.2574A>C (p.Pro858=)
c.2733A>C (p.Pro911=)
c.2754A>C (p.Pro918=)
n.2881A>C
c.2448A>C (p.Pro816=)
c.2706A>C (p.Pro902=)
c.2601A>C (p.Pro867=)
c.933A>C (p.Pro311=)
c.2547A>C (p.Pro849=)
c.2625A>C (p.Pro875=)
c.2376A>C (p.Pro792=)
c.2607A>C (p.Pro869=)
c.1533A>C (p.Pro511=)
n.2588A>C
1g.151406303G>ACA341949244POGZc.2780C>T (p.Pro927Leu)
c.2573C>T (p.Pro858Leu)
c.2732C>T (p.Pro911Leu)
c.2753C>T (p.Pro918Leu)
n.2880C>T
c.2447C>T (p.Pro816Leu)
c.2705C>T (p.Pro902Leu)
c.2600C>T (p.Pro867Leu)
c.932C>T (p.Pro311Leu)
c.2546C>T (p.Pro849Leu)
c.2624C>T (p.Pro875Leu)
c.2375C>T (p.Pro792Leu)
c.2606C>T (p.Pro869Leu)
c.1532C>T (p.Pro511Leu)
n.2587C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406303G>CCA341949245POGZc.2780C>G (p.Pro927Arg)
c.2573C>G (p.Pro858Arg)
c.2732C>G (p.Pro911Arg)
c.2753C>G (p.Pro918Arg)
n.2880C>G
c.2447C>G (p.Pro816Arg)
c.2705C>G (p.Pro902Arg)
c.2600C>G (p.Pro867Arg)
c.932C>G (p.Pro311Arg)
c.2546C>G (p.Pro849Arg)
c.2624C>G (p.Pro875Arg)
c.2375C>G (p.Pro792Arg)
c.2606C>G (p.Pro869Arg)
c.1532C>G (p.Pro511Arg)
n.2587C>G
1g.151406303G=CA2479570596POGZc.2780C= (p.Pro927=)
c.2573C= (p.Pro858=)
c.2732C= (p.Pro911=)
c.2753C= (p.Pro918=)
n.2880C=
c.2447C= (p.Pro816=)
c.2705C= (p.Pro902=)
c.2600C= (p.Pro867=)
c.932C= (p.Pro311=)
c.2546C= (p.Pro849=)
c.2624C= (p.Pro875=)
c.2375C= (p.Pro792=)
c.2606C= (p.Pro869=)
c.1532C= (p.Pro511=)
n.2587C=
1g.151406303G>TCA341949246POGZc.2780C>A (p.Pro927Gln)
c.2573C>A (p.Pro858Gln)
c.2732C>A (p.Pro911Gln)
c.2753C>A (p.Pro918Gln)
n.2880C>A
c.2447C>A (p.Pro816Gln)
c.2705C>A (p.Pro902Gln)
c.2600C>A (p.Pro867Gln)
c.932C>A (p.Pro311Gln)
c.2546C>A (p.Pro849Gln)
c.2624C>A (p.Pro875Gln)
c.2375C>A (p.Pro792Gln)
c.2606C>A (p.Pro869Gln)
c.1532C>A (p.Pro511Gln)
n.2587C>A
1g.151406304G>ACA341949250POGZc.2779C>T (p.Pro927Ser)
c.2572C>T (p.Pro858Ser)
c.2731C>T (p.Pro911Ser)
c.2752C>T (p.Pro918Ser)
n.2879C>T
c.2446C>T (p.Pro816Ser)
c.2704C>T (p.Pro902Ser)
c.2599C>T (p.Pro867Ser)
c.931C>T (p.Pro311Ser)
c.2545C>T (p.Pro849Ser)
c.2623C>T (p.Pro875Ser)
c.2374C>T (p.Pro792Ser)
c.2605C>T (p.Pro869Ser)
c.1531C>T (p.Pro511Ser)
n.2586C>T
1g.151406304G>CCA341949253POGZc.2779C>G (p.Pro927Ala)
c.2572C>G (p.Pro858Ala)
c.2731C>G (p.Pro911Ala)
c.2752C>G (p.Pro918Ala)
n.2879C>G
c.2446C>G (p.Pro816Ala)
c.2704C>G (p.Pro902Ala)
c.2599C>G (p.Pro867Ala)
c.931C>G (p.Pro311Ala)
c.2545C>G (p.Pro849Ala)
c.2623C>G (p.Pro875Ala)
c.2374C>G (p.Pro792Ala)
c.2605C>G (p.Pro869Ala)
c.1531C>G (p.Pro511Ala)
n.2586C>G
1g.151406304G>TCA341949256POGZc.2779C>A (p.Pro927Thr)
c.2572C>A (p.Pro858Thr)
c.2731C>A (p.Pro911Thr)
c.2752C>A (p.Pro918Thr)
n.2879C>A
c.2446C>A (p.Pro816Thr)
c.2704C>A (p.Pro902Thr)
c.2599C>A (p.Pro867Thr)
c.931C>A (p.Pro311Thr)
c.2545C>A (p.Pro849Thr)
c.2623C>A (p.Pro875Thr)
c.2374C>A (p.Pro792Thr)
c.2605C>A (p.Pro869Thr)
c.1531C>A (p.Pro511Thr)
n.2586C>A
1g.151406305T>ACA420910333POGZc.2778A>T (p.Ser926=)
c.2571A>T (p.Ser857=)
c.2730A>T (p.Ser910=)
c.2751A>T (p.Ser917=)
n.2878A>T
c.2445A>T (p.Ser815=)
c.2703A>T (p.Ser901=)
c.2598A>T (p.Ser866=)
c.930A>T (p.Ser310=)
c.2544A>T (p.Ser848=)
c.2622A>T (p.Ser874=)
c.2373A>T (p.Ser791=)
c.2604A>T (p.Ser868=)
c.1530A>T (p.Ser510=)
n.2585A>T
1g.151406305T>CCA420910335POGZc.2778A>G (p.Ser926=)
c.2571A>G (p.Ser857=)
c.2730A>G (p.Ser910=)
c.2751A>G (p.Ser917=)
n.2878A>G
c.2445A>G (p.Ser815=)
c.2703A>G (p.Ser901=)
c.2598A>G (p.Ser866=)
c.930A>G (p.Ser310=)
c.2544A>G (p.Ser848=)
c.2622A>G (p.Ser874=)
c.2373A>G (p.Ser791=)
c.2604A>G (p.Ser868=)
c.1530A>G (p.Ser510=)
n.2585A>G
1g.151406305T>GCA1091074POGZc.2778A>C (p.Ser926=)
c.2571A>C (p.Ser857=)
c.2730A>C (p.Ser910=)
c.2751A>C (p.Ser917=)
n.2878A>C
c.2445A>C (p.Ser815=)
c.2703A>C (p.Ser901=)
c.2598A>C (p.Ser866=)
c.930A>C (p.Ser310=)
c.2544A>C (p.Ser848=)
c.2622A>C (p.Ser874=)
c.2373A>C (p.Ser791=)
c.2604A>C (p.Ser868=)
c.1530A>C (p.Ser510=)
n.2585A>C
 dbSNP ExAC gnomAD v2
1g.151406305T=CA2479570597POGZc.2778A= (p.Ser926=)
c.2571A= (p.Ser857=)
c.2730A= (p.Ser910=)
c.2751A= (p.Ser917=)
n.2878A=
c.2445A= (p.Ser815=)
c.2703A= (p.Ser901=)
c.2598A= (p.Ser866=)
c.930A= (p.Ser310=)
c.2544A= (p.Ser848=)
c.2622A= (p.Ser874=)
c.2373A= (p.Ser791=)
c.2604A= (p.Ser868=)
c.1530A= (p.Ser510=)
n.2585A=
1g.151406306G>ACA341949263POGZc.2777C>T (p.Ser926Leu)
c.2570C>T (p.Ser857Leu)
c.2729C>T (p.Ser910Leu)
c.2750C>T (p.Ser917Leu)
n.2877C>T
c.2444C>T (p.Ser815Leu)
c.2702C>T (p.Ser901Leu)
c.2597C>T (p.Ser866Leu)
c.929C>T (p.Ser310Leu)
c.2543C>T (p.Ser848Leu)
c.2621C>T (p.Ser874Leu)
c.2372C>T (p.Ser791Leu)
c.2603C>T (p.Ser868Leu)
c.1529C>T (p.Ser510Leu)
n.2584C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.151406306G>CCA341949262POGZc.2777C>G (p.Ser926Ter)
c.2570C>G (p.Ser857Ter)
c.2729C>G (p.Ser910Ter)
c.2750C>G (p.Ser917Ter)
n.2877C>G
c.2444C>G (p.Ser815Ter)
c.2702C>G (p.Ser901Ter)
c.2597C>G (p.Ser866Ter)
c.929C>G (p.Ser310Ter)
c.2543C>G (p.Ser848Ter)
c.2621C>G (p.Ser874Ter)
c.2372C>G (p.Ser791Ter)
c.2603C>G (p.Ser868Ter)
c.1529C>G (p.Ser510Ter)
n.2584C>G
 ClinVar
1g.151406306G=CA2479570598POGZc.2777C= (p.Ser926=)
c.2570C= (p.Ser857=)
c.2729C= (p.Ser910=)
c.2750C= (p.Ser917=)
n.2877C=
c.2444C= (p.Ser815=)
c.2702C= (p.Ser901=)
c.2597C= (p.Ser866=)
c.929C= (p.Ser310=)
c.2543C= (p.Ser848=)
c.2621C= (p.Ser874=)
c.2372C= (p.Ser791=)
c.2603C= (p.Ser868=)
c.1529C= (p.Ser510=)
n.2584C=
1g.151406306G>TCA341949261POGZc.2777C>A (p.Ser926Ter)
c.2570C>A (p.Ser857Ter)
c.2729C>A (p.Ser910Ter)
c.2750C>A (p.Ser917Ter)
n.2877C>A
c.2444C>A (p.Ser815Ter)
c.2702C>A (p.Ser901Ter)
c.2597C>A (p.Ser866Ter)
c.929C>A (p.Ser310Ter)
c.2543C>A (p.Ser848Ter)
c.2621C>A (p.Ser874Ter)
c.2372C>A (p.Ser791Ter)
c.2603C>A (p.Ser868Ter)
c.1529C>A (p.Ser510Ter)
n.2584C>A
 ClinVar dbSNP gnomAD v4
1g.151406307A=CA2479570599POGZc.2776T= (p.Ser926=)
c.2569T= (p.Ser857=)
c.2728T= (p.Ser910=)
c.2749T= (p.Ser917=)
n.2876T=
c.2443T= (p.Ser815=)
c.2701T= (p.Ser901=)
c.2596T= (p.Ser866=)
c.928T= (p.Ser310=)
c.2542T= (p.Ser848=)
c.2620T= (p.Ser874=)
c.2371T= (p.Ser791=)
c.2602T= (p.Ser868=)
c.1528T= (p.Ser510=)
n.2583T=
1g.151406307A>CCA341949264POGZc.2776T>G (p.Ser926Ala)
c.2569T>G (p.Ser857Ala)
c.2728T>G (p.Ser910Ala)
c.2749T>G (p.Ser917Ala)
n.2876T>G
c.2443T>G (p.Ser815Ala)
c.2701T>G (p.Ser901Ala)
c.2596T>G (p.Ser866Ala)
c.928T>G (p.Ser310Ala)
c.2542T>G (p.Ser848Ala)
c.2620T>G (p.Ser874Ala)
c.2371T>G (p.Ser791Ala)
c.2602T>G (p.Ser868Ala)
c.1528T>G (p.Ser510Ala)
n.2583T>G
 dbSNP gnomAD v4
1g.151406307A>GCA341949265POGZc.2776T>C (p.Ser926Pro)
c.2569T>C (p.Ser857Pro)
c.2728T>C (p.Ser910Pro)
c.2749T>C (p.Ser917Pro)
n.2876T>C
c.2443T>C (p.Ser815Pro)
c.2701T>C (p.Ser901Pro)
c.2596T>C (p.Ser866Pro)
c.928T>C (p.Ser310Pro)
c.2542T>C (p.Ser848Pro)
c.2620T>C (p.Ser874Pro)
c.2371T>C (p.Ser791Pro)
c.2602T>C (p.Ser868Pro)
c.1528T>C (p.Ser510Pro)
n.2583T>C
 dbSNP
1g.151406307A>TCA341949268POGZc.2776T>A (p.Ser926Thr)
c.2569T>A (p.Ser857Thr)
c.2728T>A (p.Ser910Thr)
c.2749T>A (p.Ser917Thr)
n.2876T>A
c.2443T>A (p.Ser815Thr)
c.2701T>A (p.Ser901Thr)
c.2596T>A (p.Ser866Thr)
c.928T>A (p.Ser310Thr)
c.2542T>A (p.Ser848Thr)
c.2620T>A (p.Ser874Thr)
c.2371T>A (p.Ser791Thr)
c.2602T>A (p.Ser868Thr)
c.1528T>A (p.Ser510Thr)
n.2583T>A
 gnomAD v4
1g.151406308T>ACA1091075POGZc.2775A>T (p.Pro925=)
c.2568A>T (p.Pro856=)
c.2727A>T (p.Pro909=)
c.2748A>T (p.Pro916=)
n.2875A>T
c.2442A>T (p.Pro814=)
c.2700A>T (p.Pro900=)
c.2595A>T (p.Pro865=)
c.927A>T (p.Pro309=)
c.2541A>T (p.Pro847=)
c.2619A>T (p.Pro873=)
c.2370A>T (p.Pro790=)
c.2601A>T (p.Pro867=)
c.1527A>T (p.Pro509=)
n.2582A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406308T>CCA420910349POGZc.2775A>G (p.Pro925=)
c.2568A>G (p.Pro856=)
c.2727A>G (p.Pro909=)
c.2748A>G (p.Pro916=)
n.2875A>G
c.2442A>G (p.Pro814=)
c.2700A>G (p.Pro900=)
c.2595A>G (p.Pro865=)
c.927A>G (p.Pro309=)
c.2541A>G (p.Pro847=)
c.2619A>G (p.Pro873=)
c.2370A>G (p.Pro790=)
c.2601A>G (p.Pro867=)
c.1527A>G (p.Pro509=)
n.2582A>G
1g.151406308T>GCA420910350POGZc.2775A>C (p.Pro925=)
c.2568A>C (p.Pro856=)
c.2727A>C (p.Pro909=)
c.2748A>C (p.Pro916=)
n.2875A>C
c.2442A>C (p.Pro814=)
c.2700A>C (p.Pro900=)
c.2595A>C (p.Pro865=)
c.927A>C (p.Pro309=)
c.2541A>C (p.Pro847=)
c.2619A>C (p.Pro873=)
c.2370A>C (p.Pro790=)
c.2601A>C (p.Pro867=)
c.1527A>C (p.Pro509=)
n.2582A>C
1g.151406308T=CA2479570600POGZc.2775A= (p.Pro925=)
c.2568A= (p.Pro856=)
c.2727A= (p.Pro909=)
c.2748A= (p.Pro916=)
n.2875A=
c.2442A= (p.Pro814=)
c.2700A= (p.Pro900=)
c.2595A= (p.Pro865=)
c.927A= (p.Pro309=)
c.2541A= (p.Pro847=)
c.2619A= (p.Pro873=)
c.2370A= (p.Pro790=)
c.2601A= (p.Pro867=)
c.1527A= (p.Pro509=)
n.2582A=
1g.151406308_151406309insACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCACA2517180791POGZc.2774_2775insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser926GlufsTer37)
c.2567_2568insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser857GlufsTer37)
c.2726_2727insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser910GlufsTer37)
c.2747_2748insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser917GlufsTer37)
n.2874_2875insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT
c.2441_2442insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser815GlufsTer37)
c.2699_2700insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser901GlufsTer37)
c.2594_2595insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser866GlufsTer37)
c.926_927insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser310GlufsTer?)
c.2540_2541insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser848GlufsTer37)
c.2618_2619insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser874GlufsTer37)
c.2369_2370insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser791GlufsTer37)
c.2600_2601insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser868GlufsTer37)
c.1526_1527insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT (p.Ser510GlufsTer37)
n.2581_2582insTGAGCTAGCATCAGGTGGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGT
1g.151406309G>ACA1091076POGZc.2774C>T (p.Pro925Leu)
c.2567C>T (p.Pro856Leu)
c.2726C>T (p.Pro909Leu)
c.2747C>T (p.Pro916Leu)
n.2874C>T
c.2441C>T (p.Pro814Leu)
c.2699C>T (p.Pro900Leu)
c.2594C>T (p.Pro865Leu)
c.926C>T (p.Pro309Leu)
c.2540C>T (p.Pro847Leu)
c.2618C>T (p.Pro873Leu)
c.2369C>T (p.Pro790Leu)
c.2600C>T (p.Pro867Leu)
c.1526C>T (p.Pro509Leu)
n.2581C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406309G>CCA341949277POGZc.2774C>G (p.Pro925Arg)
c.2567C>G (p.Pro856Arg)
c.2726C>G (p.Pro909Arg)
c.2747C>G (p.Pro916Arg)
n.2874C>G
c.2441C>G (p.Pro814Arg)
c.2699C>G (p.Pro900Arg)
c.2594C>G (p.Pro865Arg)
c.926C>G (p.Pro309Arg)
c.2540C>G (p.Pro847Arg)
c.2618C>G (p.Pro873Arg)
c.2369C>G (p.Pro790Arg)
c.2600C>G (p.Pro867Arg)
c.1526C>G (p.Pro509Arg)
n.2581C>G
1g.151406309G=CA1143375454POGZc.2774C= (p.Pro925=)
c.2567C= (p.Pro856=)
c.2726C= (p.Pro909=)
c.2747C= (p.Pro916=)
n.2874C=
c.2441C= (p.Pro814=)
c.2699C= (p.Pro900=)
c.2594C= (p.Pro865=)
c.926C= (p.Pro309=)
c.2540C= (p.Pro847=)
c.2618C= (p.Pro873=)
c.2369C= (p.Pro790=)
c.2600C= (p.Pro867=)
c.1526C= (p.Pro509=)
n.2581C=
1g.151406309G>TCA341949280POGZc.2774C>A (p.Pro925Gln)
c.2567C>A (p.Pro856Gln)
c.2726C>A (p.Pro909Gln)
c.2747C>A (p.Pro916Gln)
n.2874C>A
c.2441C>A (p.Pro814Gln)
c.2699C>A (p.Pro900Gln)
c.2594C>A (p.Pro865Gln)
c.926C>A (p.Pro309Gln)
c.2540C>A (p.Pro847Gln)
c.2618C>A (p.Pro873Gln)
c.2369C>A (p.Pro790Gln)
c.2600C>A (p.Pro867Gln)
c.1526C>A (p.Pro509Gln)
n.2581C>A
1g.151406310G>ACA341949284POGZc.2773C>T (p.Pro925Ser)
c.2566C>T (p.Pro856Ser)
c.2725C>T (p.Pro909Ser)
c.2746C>T (p.Pro916Ser)
n.2873C>T
c.2440C>T (p.Pro814Ser)
c.2698C>T (p.Pro900Ser)
c.2593C>T (p.Pro865Ser)
c.925C>T (p.Pro309Ser)
c.2539C>T (p.Pro847Ser)
c.2617C>T (p.Pro873Ser)
c.2368C>T (p.Pro790Ser)
c.2599C>T (p.Pro867Ser)
c.1525C>T (p.Pro509Ser)
n.2580C>T
 COSMIC COSMIC
1g.151406310G>CCA341949285POGZc.2773C>G (p.Pro925Ala)
c.2566C>G (p.Pro856Ala)
c.2725C>G (p.Pro909Ala)
c.2746C>G (p.Pro916Ala)
n.2873C>G
c.2440C>G (p.Pro814Ala)
c.2698C>G (p.Pro900Ala)
c.2593C>G (p.Pro865Ala)
c.925C>G (p.Pro309Ala)
c.2539C>G (p.Pro847Ala)
c.2617C>G (p.Pro873Ala)
c.2368C>G (p.Pro790Ala)
c.2599C>G (p.Pro867Ala)
c.1525C>G (p.Pro509Ala)
n.2580C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406310G=CA2479570601POGZc.2773C= (p.Pro925=)
c.2566C= (p.Pro856=)
c.2725C= (p.Pro909=)
c.2746C= (p.Pro916=)
n.2873C=
c.2440C= (p.Pro814=)
c.2698C= (p.Pro900=)
c.2593C= (p.Pro865=)
c.925C= (p.Pro309=)
c.2539C= (p.Pro847=)
c.2617C= (p.Pro873=)
c.2368C= (p.Pro790=)
c.2599C= (p.Pro867=)
c.1525C= (p.Pro509=)
n.2580C=
1g.151406310G>TCA341949289POGZc.2773C>A (p.Pro925Thr)
c.2566C>A (p.Pro856Thr)
c.2725C>A (p.Pro909Thr)
c.2746C>A (p.Pro916Thr)
n.2873C>A
c.2440C>A (p.Pro814Thr)
c.2698C>A (p.Pro900Thr)
c.2593C>A (p.Pro865Thr)
c.925C>A (p.Pro309Thr)
c.2539C>A (p.Pro847Thr)
c.2617C>A (p.Pro873Thr)
c.2368C>A (p.Pro790Thr)
c.2599C>A (p.Pro867Thr)
c.1525C>A (p.Pro509Thr)
n.2580C>A
1g.151406311G>ACA420910356POGZc.2772C>T (p.Leu924=)
c.2565C>T (p.Leu855=)
c.2724C>T (p.Leu908=)
c.2745C>T (p.Leu915=)
n.2872C>T
c.2439C>T (p.Leu813=)
c.2697C>T (p.Leu899=)
c.2592C>T (p.Leu864=)
c.924C>T (p.Leu308=)
c.2538C>T (p.Leu846=)
c.2616C>T (p.Leu872=)
c.2367C>T (p.Leu789=)
c.2598C>T (p.Leu866=)
c.1524C>T (p.Leu508=)
n.2579C>T
 COSMIC COSMIC
1g.151406311G>CCA1091077POGZc.2772C>G (p.Leu924=)
c.2565C>G (p.Leu855=)
c.2724C>G (p.Leu908=)
c.2745C>G (p.Leu915=)
n.2872C>G
c.2439C>G (p.Leu813=)
c.2697C>G (p.Leu899=)
c.2592C>G (p.Leu864=)
c.924C>G (p.Leu308=)
c.2538C>G (p.Leu846=)
c.2616C>G (p.Leu872=)
c.2367C>G (p.Leu789=)
c.2598C>G (p.Leu866=)
c.1524C>G (p.Leu508=)
n.2579C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406311G=CA2479570602POGZc.2772C= (p.Leu924=)
c.2565C= (p.Leu855=)
c.2724C= (p.Leu908=)
c.2745C= (p.Leu915=)
n.2872C=
c.2439C= (p.Leu813=)
c.2697C= (p.Leu899=)
c.2592C= (p.Leu864=)
c.924C= (p.Leu308=)
c.2538C= (p.Leu846=)
c.2616C= (p.Leu872=)
c.2367C= (p.Leu789=)
c.2598C= (p.Leu866=)
c.1524C= (p.Leu508=)
n.2579C=
1g.151406311G>TCA420910357POGZc.2772C>A (p.Leu924=)
c.2565C>A (p.Leu855=)
c.2724C>A (p.Leu908=)
c.2745C>A (p.Leu915=)
n.2872C>A
c.2439C>A (p.Leu813=)
c.2697C>A (p.Leu899=)
c.2592C>A (p.Leu864=)
c.924C>A (p.Leu308=)
c.2538C>A (p.Leu846=)
c.2616C>A (p.Leu872=)
c.2367C>A (p.Leu789=)
c.2598C>A (p.Leu866=)
c.1524C>A (p.Leu508=)
n.2579C>A
1g.151406312A>CCA341949293POGZc.2771T>G (p.Leu924Arg)
c.2564T>G (p.Leu855Arg)
c.2723T>G (p.Leu908Arg)
c.2744T>G (p.Leu915Arg)
n.2871T>G
c.2438T>G (p.Leu813Arg)
c.2696T>G (p.Leu899Arg)
c.2591T>G (p.Leu864Arg)
c.923T>G (p.Leu308Arg)
c.2537T>G (p.Leu846Arg)
c.2615T>G (p.Leu872Arg)
c.2366T>G (p.Leu789Arg)
c.2597T>G (p.Leu866Arg)
c.1523T>G (p.Leu508Arg)
n.2578T>G
1g.151406312A>GCA341949294POGZc.2771T>C (p.Leu924Pro)
c.2564T>C (p.Leu855Pro)
c.2723T>C (p.Leu908Pro)
c.2744T>C (p.Leu915Pro)
n.2871T>C
c.2438T>C (p.Leu813Pro)
c.2696T>C (p.Leu899Pro)
c.2591T>C (p.Leu864Pro)
c.923T>C (p.Leu308Pro)
c.2537T>C (p.Leu846Pro)
c.2615T>C (p.Leu872Pro)
c.2366T>C (p.Leu789Pro)
c.2597T>C (p.Leu866Pro)
c.1523T>C (p.Leu508Pro)
n.2578T>C
1g.151406312A>TCA341949295POGZc.2771T>A (p.Leu924His)
c.2564T>A (p.Leu855His)
c.2723T>A (p.Leu908His)
c.2744T>A (p.Leu915His)
n.2871T>A
c.2438T>A (p.Leu813His)
c.2696T>A (p.Leu899His)
c.2591T>A (p.Leu864His)
c.923T>A (p.Leu308His)
c.2537T>A (p.Leu846His)
c.2615T>A (p.Leu872His)
c.2366T>A (p.Leu789His)
c.2597T>A (p.Leu866His)
c.1523T>A (p.Leu508His)
n.2578T>A
1g.151406313G>ACA341949298POGZc.2770C>T (p.Leu924Phe)
c.2563C>T (p.Leu855Phe)
c.2722C>T (p.Leu908Phe)
c.2743C>T (p.Leu915Phe)
n.2870C>T
c.2437C>T (p.Leu813Phe)
c.2695C>T (p.Leu899Phe)
c.2590C>T (p.Leu864Phe)
c.922C>T (p.Leu308Phe)
c.2536C>T (p.Leu846Phe)
c.2614C>T (p.Leu872Phe)
c.2365C>T (p.Leu789Phe)
c.2596C>T (p.Leu866Phe)
c.1522C>T (p.Leu508Phe)
n.2577C>T
 gnomAD v4
1g.151406313G>CCA341949300POGZc.2770C>G (p.Leu924Val)
c.2563C>G (p.Leu855Val)
c.2722C>G (p.Leu908Val)
c.2743C>G (p.Leu915Val)
n.2870C>G
c.2437C>G (p.Leu813Val)
c.2695C>G (p.Leu899Val)
c.2590C>G (p.Leu864Val)
c.922C>G (p.Leu308Val)
c.2536C>G (p.Leu846Val)
c.2614C>G (p.Leu872Val)
c.2365C>G (p.Leu789Val)
c.2596C>G (p.Leu866Val)
c.1522C>G (p.Leu508Val)
n.2577C>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406313G=CA2479570603POGZc.2770C= (p.Leu924=)
c.2563C= (p.Leu855=)
c.2722C= (p.Leu908=)
c.2743C= (p.Leu915=)
n.2870C=
c.2437C= (p.Leu813=)
c.2695C= (p.Leu899=)
c.2590C= (p.Leu864=)
c.922C= (p.Leu308=)
c.2536C= (p.Leu846=)
c.2614C= (p.Leu872=)
c.2365C= (p.Leu789=)
c.2596C= (p.Leu866=)
c.1522C= (p.Leu508=)
n.2577C=
1g.151406313G>TCA341949296POGZc.2770C>A (p.Leu924Ile)
c.2563C>A (p.Leu855Ile)
c.2722C>A (p.Leu908Ile)
c.2743C>A (p.Leu915Ile)
n.2870C>A
c.2437C>A (p.Leu813Ile)
c.2695C>A (p.Leu899Ile)
c.2590C>A (p.Leu864Ile)
c.922C>A (p.Leu308Ile)
c.2536C>A (p.Leu846Ile)
c.2614C>A (p.Leu872Ile)
c.2365C>A (p.Leu789Ile)
c.2596C>A (p.Leu866Ile)
c.1522C>A (p.Leu508Ile)
n.2577C>A
1g.151406314T>ACA420910367POGZc.2769A>T (p.Ala923=)
c.2562A>T (p.Ala854=)
c.2721A>T (p.Ala907=)
c.2742A>T (p.Ala914=)
n.2869A>T
c.2436A>T (p.Ala812=)
c.2694A>T (p.Ala898=)
c.2589A>T (p.Ala863=)
c.921A>T (p.Ala307=)
c.2535A>T (p.Ala845=)
c.2613A>T (p.Ala871=)
c.2364A>T (p.Ala788=)
c.2595A>T (p.Ala865=)
c.1521A>T (p.Ala507=)
n.2576A>T
1g.151406314T>CCA420910369POGZc.2769A>G (p.Ala923=)
c.2562A>G (p.Ala854=)
c.2721A>G (p.Ala907=)
c.2742A>G (p.Ala914=)
n.2869A>G
c.2436A>G (p.Ala812=)
c.2694A>G (p.Ala898=)
c.2589A>G (p.Ala863=)
c.921A>G (p.Ala307=)
c.2535A>G (p.Ala845=)
c.2613A>G (p.Ala871=)
c.2364A>G (p.Ala788=)
c.2595A>G (p.Ala865=)
c.1521A>G (p.Ala507=)
n.2576A>G
1g.151406314T>GCA420910371POGZc.2769A>C (p.Ala923=)
c.2562A>C (p.Ala854=)
c.2721A>C (p.Ala907=)
c.2742A>C (p.Ala914=)
n.2869A>C
c.2436A>C (p.Ala812=)
c.2694A>C (p.Ala898=)
c.2589A>C (p.Ala863=)
c.921A>C (p.Ala307=)
c.2535A>C (p.Ala845=)
c.2613A>C (p.Ala871=)
c.2364A>C (p.Ala788=)
c.2595A>C (p.Ala865=)
c.1521A>C (p.Ala507=)
n.2576A>C
 dbSNP
1g.151406314T=CA2479570604POGZc.2769A= (p.Ala923=)
c.2562A= (p.Ala854=)
c.2721A= (p.Ala907=)
c.2742A= (p.Ala914=)
n.2869A=
c.2436A= (p.Ala812=)
c.2694A= (p.Ala898=)
c.2589A= (p.Ala863=)
c.921A= (p.Ala307=)
c.2535A= (p.Ala845=)
c.2613A= (p.Ala871=)
c.2364A= (p.Ala788=)
c.2595A= (p.Ala865=)
c.1521A= (p.Ala507=)
n.2576A=
1g.151406315G>ACA341949302POGZc.2768C>T (p.Ala923Val)
c.2561C>T (p.Ala854Val)
c.2720C>T (p.Ala907Val)
c.2741C>T (p.Ala914Val)
n.2868C>T
c.2435C>T (p.Ala812Val)
c.2693C>T (p.Ala898Val)
c.2588C>T (p.Ala863Val)
c.920C>T (p.Ala307Val)
c.2534C>T (p.Ala845Val)
c.2612C>T (p.Ala871Val)
c.2363C>T (p.Ala788Val)
c.2594C>T (p.Ala865Val)
c.1520C>T (p.Ala507Val)
n.2575C>T
1g.151406315G>CCA341949303POGZc.2768C>G (p.Ala923Gly)
c.2561C>G (p.Ala854Gly)
c.2720C>G (p.Ala907Gly)
c.2741C>G (p.Ala914Gly)
n.2868C>G
c.2435C>G (p.Ala812Gly)
c.2693C>G (p.Ala898Gly)
c.2588C>G (p.Ala863Gly)
c.920C>G (p.Ala307Gly)
c.2534C>G (p.Ala845Gly)
c.2612C>G (p.Ala871Gly)
c.2363C>G (p.Ala788Gly)
c.2594C>G (p.Ala865Gly)
c.1520C>G (p.Ala507Gly)
n.2575C>G
1g.151406315G>TCA341949304POGZc.2768C>A (p.Ala923Glu)
c.2561C>A (p.Ala854Glu)
c.2720C>A (p.Ala907Glu)
c.2741C>A (p.Ala914Glu)
n.2868C>A
c.2435C>A (p.Ala812Glu)
c.2693C>A (p.Ala898Glu)
c.2588C>A (p.Ala863Glu)
c.920C>A (p.Ala307Glu)
c.2534C>A (p.Ala845Glu)
c.2612C>A (p.Ala871Glu)
c.2363C>A (p.Ala788Glu)
c.2594C>A (p.Ala865Glu)
c.1520C>A (p.Ala507Glu)
n.2575C>A
1g.151406316C>ACA341949306POGZc.2767G>T (p.Ala923Ser)
c.2560G>T (p.Ala854Ser)
c.2719G>T (p.Ala907Ser)
c.2740G>T (p.Ala914Ser)
n.2867G>T
c.2434G>T (p.Ala812Ser)
c.2692G>T (p.Ala898Ser)
c.2587G>T (p.Ala863Ser)
c.919G>T (p.Ala307Ser)
c.2533G>T (p.Ala845Ser)
c.2611G>T (p.Ala871Ser)
c.2362G>T (p.Ala788Ser)
c.2593G>T (p.Ala865Ser)
c.1519G>T (p.Ala507Ser)
n.2574G>T
1g.151406316C>GCA341949307POGZc.2767G>C (p.Ala923Pro)
c.2560G>C (p.Ala854Pro)
c.2719G>C (p.Ala907Pro)
c.2740G>C (p.Ala914Pro)
n.2867G>C
c.2434G>C (p.Ala812Pro)
c.2692G>C (p.Ala898Pro)
c.2587G>C (p.Ala863Pro)
c.919G>C (p.Ala307Pro)
c.2533G>C (p.Ala845Pro)
c.2611G>C (p.Ala871Pro)
c.2362G>C (p.Ala788Pro)
c.2593G>C (p.Ala865Pro)
c.1519G>C (p.Ala507Pro)
n.2574G>C
1g.151406316C>TCA341949309POGZc.2767G>A (p.Ala923Thr)
c.2560G>A (p.Ala854Thr)
c.2719G>A (p.Ala907Thr)
c.2740G>A (p.Ala914Thr)
n.2867G>A
c.2434G>A (p.Ala812Thr)
c.2692G>A (p.Ala898Thr)
c.2587G>A (p.Ala863Thr)
c.919G>A (p.Ala307Thr)
c.2533G>A (p.Ala845Thr)
c.2611G>A (p.Ala871Thr)
c.2362G>A (p.Ala788Thr)
c.2593G>A (p.Ala865Thr)
c.1519G>A (p.Ala507Thr)
n.2574G>A
1g.151406317T>ACA420910379POGZc.2766A>T (p.Pro922=)
c.2559A>T (p.Pro853=)
c.2718A>T (p.Pro906=)
c.2739A>T (p.Pro913=)
n.2866A>T
c.2433A>T (p.Pro811=)
c.2691A>T (p.Pro897=)
c.2586A>T (p.Pro862=)
c.918A>T (p.Pro306=)
c.2532A>T (p.Pro844=)
c.2610A>T (p.Pro870=)
c.2361A>T (p.Pro787=)
c.2592A>T (p.Pro864=)
c.1518A>T (p.Pro506=)
n.2573A>T
1g.151406317T>CCA420910380POGZc.2766A>G (p.Pro922=)
c.2559A>G (p.Pro853=)
c.2718A>G (p.Pro906=)
c.2739A>G (p.Pro913=)
n.2866A>G
c.2433A>G (p.Pro811=)
c.2691A>G (p.Pro897=)
c.2586A>G (p.Pro862=)
c.918A>G (p.Pro306=)
c.2532A>G (p.Pro844=)
c.2610A>G (p.Pro870=)
c.2361A>G (p.Pro787=)
c.2592A>G (p.Pro864=)
c.1518A>G (p.Pro506=)
n.2573A>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406317T>GCA420910381POGZc.2766A>C (p.Pro922=)
c.2559A>C (p.Pro853=)
c.2718A>C (p.Pro906=)
c.2739A>C (p.Pro913=)
n.2866A>C
c.2433A>C (p.Pro811=)
c.2691A>C (p.Pro897=)
c.2586A>C (p.Pro862=)
c.918A>C (p.Pro306=)
c.2532A>C (p.Pro844=)
c.2610A>C (p.Pro870=)
c.2361A>C (p.Pro787=)
c.2592A>C (p.Pro864=)
c.1518A>C (p.Pro506=)
n.2573A>C
1g.151406317T=CA2479570605POGZc.2766A= (p.Pro922=)
c.2559A= (p.Pro853=)
c.2718A= (p.Pro906=)
c.2739A= (p.Pro913=)
n.2866A=
c.2433A= (p.Pro811=)
c.2691A= (p.Pro897=)
c.2586A= (p.Pro862=)
c.918A= (p.Pro306=)
c.2532A= (p.Pro844=)
c.2610A= (p.Pro870=)
c.2361A= (p.Pro787=)
c.2592A= (p.Pro864=)
c.1518A= (p.Pro506=)
n.2573A=
1g.151406318G>ACA341949313POGZc.2765C>T (p.Pro922Leu)
c.2558C>T (p.Pro853Leu)
c.2717C>T (p.Pro906Leu)
c.2738C>T (p.Pro913Leu)
n.2865C>T
c.2432C>T (p.Pro811Leu)
c.2690C>T (p.Pro897Leu)
c.2585C>T (p.Pro862Leu)
c.917C>T (p.Pro306Leu)
c.2531C>T (p.Pro844Leu)
c.2609C>T (p.Pro870Leu)
c.2360C>T (p.Pro787Leu)
c.2591C>T (p.Pro864Leu)
c.1517C>T (p.Pro506Leu)
n.2572C>T
1g.151406318G>CCA341949316POGZc.2765C>G (p.Pro922Arg)
c.2558C>G (p.Pro853Arg)
c.2717C>G (p.Pro906Arg)
c.2738C>G (p.Pro913Arg)
n.2865C>G
c.2432C>G (p.Pro811Arg)
c.2690C>G (p.Pro897Arg)
c.2585C>G (p.Pro862Arg)
c.917C>G (p.Pro306Arg)
c.2531C>G (p.Pro844Arg)
c.2609C>G (p.Pro870Arg)
c.2360C>G (p.Pro787Arg)
c.2591C>G (p.Pro864Arg)
c.1517C>G (p.Pro506Arg)
n.2572C>G
1g.151406318G>TCA341949319POGZc.2765C>A (p.Pro922Gln)
c.2558C>A (p.Pro853Gln)
c.2717C>A (p.Pro906Gln)
c.2738C>A (p.Pro913Gln)
n.2865C>A
c.2432C>A (p.Pro811Gln)
c.2690C>A (p.Pro897Gln)
c.2585C>A (p.Pro862Gln)
c.917C>A (p.Pro306Gln)
c.2531C>A (p.Pro844Gln)
c.2609C>A (p.Pro870Gln)
c.2360C>A (p.Pro787Gln)
c.2591C>A (p.Pro864Gln)
c.1517C>A (p.Pro506Gln)
n.2572C>A
1g.151406319G>ACA341949323POGZc.2764C>T (p.Pro922Ser)
c.2557C>T (p.Pro853Ser)
c.2716C>T (p.Pro906Ser)
c.2737C>T (p.Pro913Ser)
n.2864C>T
c.2431C>T (p.Pro811Ser)
c.2689C>T (p.Pro897Ser)
c.2584C>T (p.Pro862Ser)
c.916C>T (p.Pro306Ser)
c.2530C>T (p.Pro844Ser)
c.2608C>T (p.Pro870Ser)
c.2359C>T (p.Pro787Ser)
c.2590C>T (p.Pro864Ser)
c.1516C>T (p.Pro506Ser)
n.2571C>T
1g.151406319G>CCA341949325POGZc.2764C>G (p.Pro922Ala)
c.2557C>G (p.Pro853Ala)
c.2716C>G (p.Pro906Ala)
c.2737C>G (p.Pro913Ala)
n.2864C>G
c.2431C>G (p.Pro811Ala)
c.2689C>G (p.Pro897Ala)
c.2584C>G (p.Pro862Ala)
c.916C>G (p.Pro306Ala)
c.2530C>G (p.Pro844Ala)
c.2608C>G (p.Pro870Ala)
c.2359C>G (p.Pro787Ala)
c.2590C>G (p.Pro864Ala)
c.1516C>G (p.Pro506Ala)
n.2571C>G
1g.151406319G>TCA341949327POGZc.2764C>A (p.Pro922Thr)
c.2557C>A (p.Pro853Thr)
c.2716C>A (p.Pro906Thr)
c.2737C>A (p.Pro913Thr)
n.2864C>A
c.2431C>A (p.Pro811Thr)
c.2689C>A (p.Pro897Thr)
c.2584C>A (p.Pro862Thr)
c.916C>A (p.Pro306Thr)
c.2530C>A (p.Pro844Thr)
c.2608C>A (p.Pro870Thr)
c.2359C>A (p.Pro787Thr)
c.2590C>A (p.Pro864Thr)
c.1516C>A (p.Pro506Thr)
n.2571C>A
1g.151406320G>ACA1091079POGZc.2763C>T (p.Ala921=)
c.2556C>T (p.Ala852=)
c.2715C>T (p.Ala905=)
c.2736C>T (p.Ala912=)
n.2863C>T
c.2430C>T (p.Ala810=)
c.2688C>T (p.Ala896=)
c.2583C>T (p.Ala861=)
c.915C>T (p.Ala305=)
c.2529C>T (p.Ala843=)
c.2607C>T (p.Ala869=)
c.2358C>T (p.Ala786=)
c.2589C>T (p.Ala863=)
c.1515C>T (p.Ala505=)
n.2570C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.151406320G>CCA1091078POGZc.2763C>G (p.Ala921=)
c.2556C>G (p.Ala852=)
c.2715C>G (p.Ala905=)
c.2736C>G (p.Ala912=)
n.2863C>G
c.2430C>G (p.Ala810=)
c.2688C>G (p.Ala896=)
c.2583C>G (p.Ala861=)
c.915C>G (p.Ala305=)
c.2529C>G (p.Ala843=)
c.2607C>G (p.Ala869=)
c.2358C>G (p.Ala786=)
c.2589C>G (p.Ala863=)
c.1515C>G (p.Ala505=)
n.2570C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406320G=CA1142929717POGZc.2763C= (p.Ala921=)
c.2556C= (p.Ala852=)
c.2715C= (p.Ala905=)
c.2736C= (p.Ala912=)
n.2863C=
c.2430C= (p.Ala810=)
c.2688C= (p.Ala896=)
c.2583C= (p.Ala861=)
c.915C= (p.Ala305=)
c.2529C= (p.Ala843=)
c.2607C= (p.Ala869=)
c.2358C= (p.Ala786=)
c.2589C= (p.Ala863=)
c.1515C= (p.Ala505=)
n.2570C=
1g.151406320G>TCA420910392POGZc.2763C>A (p.Ala921=)
c.2556C>A (p.Ala852=)
c.2715C>A (p.Ala905=)
c.2736C>A (p.Ala912=)
n.2863C>A
c.2430C>A (p.Ala810=)
c.2688C>A (p.Ala896=)
c.2583C>A (p.Ala861=)
c.915C>A (p.Ala305=)
c.2529C>A (p.Ala843=)
c.2607C>A (p.Ala869=)
c.2358C>A (p.Ala786=)
c.2589C>A (p.Ala863=)
c.1515C>A (p.Ala505=)
n.2570C>A
1g.151406321G>ACA341949332POGZc.2762C>T (p.Ala921Val)
c.2555C>T (p.Ala852Val)
c.2714C>T (p.Ala905Val)
c.2735C>T (p.Ala912Val)
n.2862C>T
c.2429C>T (p.Ala810Val)
c.2687C>T (p.Ala896Val)
c.2582C>T (p.Ala861Val)
c.914C>T (p.Ala305Val)
c.2528C>T (p.Ala843Val)
c.2606C>T (p.Ala869Val)
c.2357C>T (p.Ala786Val)
c.2588C>T (p.Ala863Val)
c.1514C>T (p.Ala505Val)
n.2569C>T
1g.151406321G>CCA341949335POGZc.2762C>G (p.Ala921Gly)
c.2555C>G (p.Ala852Gly)
c.2714C>G (p.Ala905Gly)
c.2735C>G (p.Ala912Gly)
n.2862C>G
c.2429C>G (p.Ala810Gly)
c.2687C>G (p.Ala896Gly)
c.2582C>G (p.Ala861Gly)
c.914C>G (p.Ala305Gly)
c.2528C>G (p.Ala843Gly)
c.2606C>G (p.Ala869Gly)
c.2357C>G (p.Ala786Gly)
c.2588C>G (p.Ala863Gly)
c.1514C>G (p.Ala505Gly)
n.2569C>G
1g.151406321G>TCA341949337POGZc.2762C>A (p.Ala921Asp)
c.2555C>A (p.Ala852Asp)
c.2714C>A (p.Ala905Asp)
c.2735C>A (p.Ala912Asp)
n.2862C>A
c.2429C>A (p.Ala810Asp)
c.2687C>A (p.Ala896Asp)
c.2582C>A (p.Ala861Asp)
c.914C>A (p.Ala305Asp)
c.2528C>A (p.Ala843Asp)
c.2606C>A (p.Ala869Asp)
c.2357C>A (p.Ala786Asp)
c.2588C>A (p.Ala863Asp)
c.1514C>A (p.Ala505Asp)
n.2569C>A
1g.151406322C>ACA341949341POGZc.2761G>T (p.Ala921Ser)
c.2554G>T (p.Ala852Ser)
c.2713G>T (p.Ala905Ser)
c.2734G>T (p.Ala912Ser)
n.2861G>T
c.2428G>T (p.Ala810Ser)
c.2686G>T (p.Ala896Ser)
c.2581G>T (p.Ala861Ser)
c.913G>T (p.Ala305Ser)
c.2527G>T (p.Ala843Ser)
c.2605G>T (p.Ala869Ser)
c.2356G>T (p.Ala786Ser)
c.2587G>T (p.Ala863Ser)
c.1513G>T (p.Ala505Ser)
n.2568G>T
1g.151406322C=CA2479570606POGZc.2761G= (p.Ala921=)
c.2554G= (p.Ala852=)
c.2713G= (p.Ala905=)
c.2734G= (p.Ala912=)
n.2861G=
c.2428G= (p.Ala810=)
c.2686G= (p.Ala896=)
c.2581G= (p.Ala861=)
c.913G= (p.Ala305=)
c.2527G= (p.Ala843=)
c.2605G= (p.Ala869=)
c.2356G= (p.Ala786=)
c.2587G= (p.Ala863=)
c.1513G= (p.Ala505=)
n.2568G=
1g.151406322C>GCA341949343POGZc.2761G>C (p.Ala921Pro)
c.2554G>C (p.Ala852Pro)
c.2713G>C (p.Ala905Pro)
c.2734G>C (p.Ala912Pro)
n.2861G>C
c.2428G>C (p.Ala810Pro)
c.2686G>C (p.Ala896Pro)
c.2581G>C (p.Ala861Pro)
c.913G>C (p.Ala305Pro)
c.2527G>C (p.Ala843Pro)
c.2605G>C (p.Ala869Pro)
c.2356G>C (p.Ala786Pro)
c.2587G>C (p.Ala863Pro)
c.1513G>C (p.Ala505Pro)
n.2568G>C
1g.151406322C>TCA341949346POGZc.2761G>A (p.Ala921Thr)
c.2554G>A (p.Ala852Thr)
c.2713G>A (p.Ala905Thr)
c.2734G>A (p.Ala912Thr)
n.2861G>A
c.2428G>A (p.Ala810Thr)
c.2686G>A (p.Ala896Thr)
c.2581G>A (p.Ala861Thr)
c.913G>A (p.Ala305Thr)
c.2527G>A (p.Ala843Thr)
c.2605G>A (p.Ala869Thr)
c.2356G>A (p.Ala786Thr)
c.2587G>A (p.Ala863Thr)
c.1513G>A (p.Ala505Thr)
n.2568G>A
1g.151406323T>ACA341949350POGZc.2760A>T (p.Leu920Phe)
c.2553A>T (p.Leu851Phe)
c.2712A>T (p.Leu904Phe)
c.2733A>T (p.Leu911Phe)
n.2860A>T
c.2427A>T (p.Leu809Phe)
c.2685A>T (p.Leu895Phe)
c.2580A>T (p.Leu860Phe)
c.912A>T (p.Leu304Phe)
c.2526A>T (p.Leu842Phe)
c.2604A>T (p.Leu868Phe)
c.2355A>T (p.Leu785Phe)
c.2586A>T (p.Leu862Phe)
c.1512A>T (p.Leu504Phe)
n.2567A>T
1g.151406323T>CCA420910399POGZc.2760A>G (p.Leu920=)
c.2553A>G (p.Leu851=)
c.2712A>G (p.Leu904=)
c.2733A>G (p.Leu911=)
n.2860A>G
c.2427A>G (p.Leu809=)
c.2685A>G (p.Leu895=)
c.2580A>G (p.Leu860=)
c.912A>G (p.Leu304=)
c.2526A>G (p.Leu842=)
c.2604A>G (p.Leu868=)
c.2355A>G (p.Leu785=)
c.2586A>G (p.Leu862=)
c.1512A>G (p.Leu504=)
n.2567A>G
1g.151406323T>GCA341949353POGZc.2760A>C (p.Leu920Phe)
c.2553A>C (p.Leu851Phe)
c.2712A>C (p.Leu904Phe)
c.2733A>C (p.Leu911Phe)
n.2860A>C
c.2427A>C (p.Leu809Phe)
c.2685A>C (p.Leu895Phe)
c.2580A>C (p.Leu860Phe)
c.912A>C (p.Leu304Phe)
c.2526A>C (p.Leu842Phe)
c.2604A>C (p.Leu868Phe)
c.2355A>C (p.Leu785Phe)
c.2586A>C (p.Leu862Phe)
c.1512A>C (p.Leu504Phe)
n.2567A>C
1g.151406323dupCA658795516POGZc.2760dup (p.Ala921SerfsTer?)
c.2553dup (p.Ala852SerfsTer?)
c.2712dup (p.Ala905SerfsTer?)
c.2733dup (p.Ala912SerfsTer?)
n.2860dup
c.2427dup (p.Ala810SerfsTer?)
c.2685dup (p.Ala896SerfsTer?)
c.2580dup (p.Ala861SerfsTer?)
c.912dup (p.Ala305SerfsTer?)
c.2526dup (p.Ala843SerfsTer?)
c.2604dup (p.Ala869SerfsTer?)
c.2355dup (p.Ala786SerfsTer?)
c.2586dup (p.Ala863SerfsTer?)
c.1512dup (p.Ala505SerfsTer?)
n.2567dup
 ClinVar dbSNP
1g.151406324A=CA2479570607POGZc.2759T= (p.Leu920=)
c.2552T= (p.Leu851=)
c.2711T= (p.Leu904=)
c.2732T= (p.Leu911=)
n.2859T=
c.2426T= (p.Leu809=)
c.2684T= (p.Leu895=)
c.2579T= (p.Leu860=)
c.911T= (p.Leu304=)
c.2525T= (p.Leu842=)
c.2603T= (p.Leu868=)
c.2354T= (p.Leu785=)
c.2585T= (p.Leu862=)
c.1511T= (p.Leu504=)
n.2566T=
1g.151406324A>CCA341949358POGZc.2759T>G (p.Leu920Ter)
c.2552T>G (p.Leu851Ter)
c.2711T>G (p.Leu904Ter)
c.2732T>G (p.Leu911Ter)
n.2859T>G
c.2426T>G (p.Leu809Ter)
c.2684T>G (p.Leu895Ter)
c.2579T>G (p.Leu860Ter)
c.911T>G (p.Leu304Ter)
c.2525T>G (p.Leu842Ter)
c.2603T>G (p.Leu868Ter)
c.2354T>G (p.Leu785Ter)
c.2585T>G (p.Leu862Ter)
c.1511T>G (p.Leu504Ter)
n.2566T>G
1g.151406324A>GCA341949361POGZc.2759T>C (p.Leu920Ser)
c.2552T>C (p.Leu851Ser)
c.2711T>C (p.Leu904Ser)
c.2732T>C (p.Leu911Ser)
n.2859T>C
c.2426T>C (p.Leu809Ser)
c.2684T>C (p.Leu895Ser)
c.2579T>C (p.Leu860Ser)
c.911T>C (p.Leu304Ser)
c.2525T>C (p.Leu842Ser)
c.2603T>C (p.Leu868Ser)
c.2354T>C (p.Leu785Ser)
c.2585T>C (p.Leu862Ser)
c.1511T>C (p.Leu504Ser)
n.2566T>C
1g.151406324A>TCA346843POGZc.2759T>A (p.Leu920Ter)
c.2552T>A (p.Leu851Ter)
c.2711T>A (p.Leu904Ter)
c.2732T>A (p.Leu911Ter)
n.2859T>A
c.2426T>A (p.Leu809Ter)
c.2684T>A (p.Leu895Ter)
c.2579T>A (p.Leu860Ter)
c.911T>A (p.Leu304Ter)
c.2525T>A (p.Leu842Ter)
c.2603T>A (p.Leu868Ter)
c.2354T>A (p.Leu785Ter)
c.2585T>A (p.Leu862Ter)
c.1511T>A (p.Leu504Ter)
n.2566T>A
 ClinVar dbSNP
1g.151406325A>CCA341949369POGZc.2758T>G (p.Leu920Val)
c.2551T>G (p.Leu851Val)
c.2710T>G (p.Leu904Val)
c.2731T>G (p.Leu911Val)
n.2858T>G
c.2425T>G (p.Leu809Val)
c.2683T>G (p.Leu895Val)
c.2578T>G (p.Leu860Val)
c.910T>G (p.Leu304Val)
c.2524T>G (p.Leu842Val)
c.2602T>G (p.Leu868Val)
c.2353T>G (p.Leu785Val)
c.2584T>G (p.Leu862Val)
c.1510T>G (p.Leu504Val)
n.2565T>G
1g.151406325A>GCA420910407POGZc.2758T>C (p.Leu920=)
c.2551T>C (p.Leu851=)
c.2710T>C (p.Leu904=)
c.2731T>C (p.Leu911=)
n.2858T>C
c.2425T>C (p.Leu809=)
c.2683T>C (p.Leu895=)
c.2578T>C (p.Leu860=)
c.910T>C (p.Leu304=)
c.2524T>C (p.Leu842=)
c.2602T>C (p.Leu868=)
c.2353T>C (p.Leu785=)
c.2584T>C (p.Leu862=)
c.1510T>C (p.Leu504=)
n.2565T>C
1g.151406325A>TCA341949371POGZc.2758T>A (p.Leu920Ile)
c.2551T>A (p.Leu851Ile)
c.2710T>A (p.Leu904Ile)
c.2731T>A (p.Leu911Ile)
n.2858T>A
c.2425T>A (p.Leu809Ile)
c.2683T>A (p.Leu895Ile)
c.2578T>A (p.Leu860Ile)
c.910T>A (p.Leu304Ile)
c.2524T>A (p.Leu842Ile)
c.2602T>A (p.Leu868Ile)
c.2353T>A (p.Leu785Ile)
c.2584T>A (p.Leu862Ile)
c.1510T>A (p.Leu504Ile)
n.2565T>A
1g.151406327_151406334delCA2586964174POGZc.2751_2758del (p.Thr918SerfsTer?)
c.2544_2551del (p.Thr849SerfsTer?)
c.2703_2710del (p.Thr902SerfsTer?)
c.2724_2731del (p.Thr909SerfsTer?)
n.2851_2858del
c.2418_2425del (p.Thr807SerfsTer?)
c.2676_2683del (p.Thr893SerfsTer?)
c.2571_2578del (p.Thr858SerfsTer?)
c.903_910del (p.Thr302SerfsTer?)
c.2517_2524del (p.Thr840SerfsTer?)
c.2595_2602del (p.Thr866SerfsTer?)
c.2346_2353del (p.Thr783SerfsTer?)
c.2577_2584del (p.Thr860SerfsTer?)
c.1503_1510del (p.Thr502SerfsTer?)
n.2558_2565del
1g.151406327_151406337delCA2573131064POGZc.2748_2758del (p.Leu917SerfsTer?)
c.2541_2551del (p.Leu848SerfsTer?)
c.2700_2710del (p.Leu901SerfsTer?)
c.2721_2731del (p.Leu908SerfsTer?)
n.2848_2858del
c.2415_2425del (p.Leu806SerfsTer?)
c.2673_2683del (p.Leu892SerfsTer?)
c.2568_2578del (p.Leu857SerfsTer?)
c.900_910del (p.Leu301SerfsTer?)
c.2514_2524del (p.Leu839SerfsTer?)
c.2592_2602del (p.Leu865SerfsTer?)
c.2343_2353del (p.Leu782SerfsTer?)
c.2574_2584del (p.Leu859SerfsTer?)
c.1500_1510del (p.Leu501SerfsTer?)
n.2555_2565del
 ClinVar dbSNP
1g.151406326G>ACA420910409POGZc.2757C>T (p.Pro919=)
c.2550C>T (p.Pro850=)
c.2709C>T (p.Pro903=)
c.2730C>T (p.Pro910=)
n.2857C>T
c.2424C>T (p.Pro808=)
c.2682C>T (p.Pro894=)
c.2577C>T (p.Pro859=)
c.909C>T (p.Pro303=)
c.2523C>T (p.Pro841=)
c.2601C>T (p.Pro867=)
c.2352C>T (p.Pro784=)
c.2583C>T (p.Pro861=)
c.1509C>T (p.Pro503=)
n.2564C>T
 gnomAD v4
1g.151406326G>CCA420910410POGZc.2757C>G (p.Pro919=)
c.2550C>G (p.Pro850=)
c.2709C>G (p.Pro903=)
c.2730C>G (p.Pro910=)
n.2857C>G
c.2424C>G (p.Pro808=)
c.2682C>G (p.Pro894=)
c.2577C>G (p.Pro859=)
c.909C>G (p.Pro303=)
c.2523C>G (p.Pro841=)
c.2601C>G (p.Pro867=)
c.2352C>G (p.Pro784=)
c.2583C>G (p.Pro861=)
c.1509C>G (p.Pro503=)
n.2564C>G
 gnomAD v4
1g.151406326G>TCA420910417POGZc.2757C>A (p.Pro919=)
c.2550C>A (p.Pro850=)
c.2709C>A (p.Pro903=)
c.2730C>A (p.Pro910=)
n.2857C>A
c.2424C>A (p.Pro808=)
c.2682C>A (p.Pro894=)
c.2577C>A (p.Pro859=)
c.909C>A (p.Pro303=)
c.2523C>A (p.Pro841=)
c.2601C>A (p.Pro867=)
c.2352C>A (p.Pro784=)
c.2583C>A (p.Pro861=)
c.1509C>A (p.Pro503=)
n.2564C>A
 gnomAD v4
1g.151406328delCA2580061028POGZc.2757del (p.Leu920Ter)
c.2550del (p.Leu851Ter)
c.2709del (p.Leu904Ter)
c.2730del (p.Leu911Ter)
n.2857del
c.2424del (p.Leu809Ter)
c.2682del (p.Leu895Ter)
c.2577del (p.Leu860Ter)
c.909del (p.Leu304Ter)
c.2523del (p.Leu842Ter)
c.2601del (p.Leu868Ter)
c.2352del (p.Leu785Ter)
c.2583del (p.Leu862Ter)
c.1509del (p.Leu504Ter)
n.2564del
 ClinVar
1g.151406327G>ACA341949378POGZc.2756C>T (p.Pro919Leu)
c.2549C>T (p.Pro850Leu)
c.2708C>T (p.Pro903Leu)
c.2729C>T (p.Pro910Leu)
n.2856C>T
c.2423C>T (p.Pro808Leu)
c.2681C>T (p.Pro894Leu)
c.2576C>T (p.Pro859Leu)
c.908C>T (p.Pro303Leu)
c.2522C>T (p.Pro841Leu)
c.2600C>T (p.Pro867Leu)
c.2351C>T (p.Pro784Leu)
c.2582C>T (p.Pro861Leu)
c.1508C>T (p.Pro503Leu)
n.2563C>T
1g.151406327G>CCA341949380POGZc.2756C>G (p.Pro919Arg)
c.2549C>G (p.Pro850Arg)
c.2708C>G (p.Pro903Arg)
c.2729C>G (p.Pro910Arg)
n.2856C>G
c.2423C>G (p.Pro808Arg)
c.2681C>G (p.Pro894Arg)
c.2576C>G (p.Pro859Arg)
c.908C>G (p.Pro303Arg)
c.2522C>G (p.Pro841Arg)
c.2600C>G (p.Pro867Arg)
c.2351C>G (p.Pro784Arg)
c.2582C>G (p.Pro861Arg)
c.1508C>G (p.Pro503Arg)
n.2563C>G
1g.151406327G>TCA341949375POGZc.2756C>A (p.Pro919His)
c.2549C>A (p.Pro850His)
c.2708C>A (p.Pro903His)
c.2729C>A (p.Pro910His)
n.2856C>A
c.2423C>A (p.Pro808His)
c.2681C>A (p.Pro894His)
c.2576C>A (p.Pro859His)
c.908C>A (p.Pro303His)
c.2522C>A (p.Pro841His)
c.2600C>A (p.Pro867His)
c.2351C>A (p.Pro784His)
c.2582C>A (p.Pro861His)
c.1508C>A (p.Pro503His)
n.2563C>A
1g.151406328G>ACA341949385POGZc.2755C>T (p.Pro919Ser)
c.2548C>T (p.Pro850Ser)
c.2707C>T (p.Pro903Ser)
c.2728C>T (p.Pro910Ser)
n.2855C>T
c.2422C>T (p.Pro808Ser)
c.2680C>T (p.Pro894Ser)
c.2575C>T (p.Pro859Ser)
c.907C>T (p.Pro303Ser)
c.2521C>T (p.Pro841Ser)
c.2599C>T (p.Pro867Ser)
c.2350C>T (p.Pro784Ser)
c.2581C>T (p.Pro861Ser)
c.1507C>T (p.Pro503Ser)
n.2562C>T
 gnomAD v4
1g.151406328G>CCA341949391POGZc.2755C>G (p.Pro919Ala)
c.2548C>G (p.Pro850Ala)
c.2707C>G (p.Pro903Ala)
c.2728C>G (p.Pro910Ala)
n.2855C>G
c.2422C>G (p.Pro808Ala)
c.2680C>G (p.Pro894Ala)
c.2575C>G (p.Pro859Ala)
c.907C>G (p.Pro303Ala)
c.2521C>G (p.Pro841Ala)
c.2599C>G (p.Pro867Ala)
c.2350C>G (p.Pro784Ala)
c.2581C>G (p.Pro861Ala)
c.1507C>G (p.Pro503Ala)
n.2562C>G
1g.151406328G>TCA341949387POGZc.2755C>A (p.Pro919Thr)
c.2548C>A (p.Pro850Thr)
c.2707C>A (p.Pro903Thr)
c.2728C>A (p.Pro910Thr)
n.2855C>A
c.2422C>A (p.Pro808Thr)
c.2680C>A (p.Pro894Thr)
c.2575C>A (p.Pro859Thr)
c.907C>A (p.Pro303Thr)
c.2521C>A (p.Pro841Thr)
c.2599C>A (p.Pro867Thr)
c.2350C>A (p.Pro784Thr)
c.2581C>A (p.Pro861Thr)
c.1507C>A (p.Pro503Thr)
n.2562C>A
 gnomAD v4
1g.151406329A=CA2479570608POGZc.2754T= (p.Thr918=)
c.2547T= (p.Thr849=)
c.2706T= (p.Thr902=)
c.2727T= (p.Thr909=)
n.2854T=
c.2421T= (p.Thr807=)
c.2679T= (p.Thr893=)
c.2574T= (p.Thr858=)
c.906T= (p.Thr302=)
c.2520T= (p.Thr840=)
c.2598T= (p.Thr866=)
c.2349T= (p.Thr783=)
c.2580T= (p.Thr860=)
c.1506T= (p.Thr502=)
n.2561T=
1g.151406329A>CCA420910431POGZc.2754T>G (p.Thr918=)
c.2547T>G (p.Thr849=)
c.2706T>G (p.Thr902=)
c.2727T>G (p.Thr909=)
n.2854T>G
c.2421T>G (p.Thr807=)
c.2679T>G (p.Thr893=)
c.2574T>G (p.Thr858=)
c.906T>G (p.Thr302=)
c.2520T>G (p.Thr840=)
c.2598T>G (p.Thr866=)
c.2349T>G (p.Thr783=)
c.2580T>G (p.Thr860=)
c.1506T>G (p.Thr502=)
n.2561T>G
1g.151406329A>GCA420910430POGZc.2754T>C (p.Thr918=)
c.2547T>C (p.Thr849=)
c.2706T>C (p.Thr902=)
c.2727T>C (p.Thr909=)
n.2854T>C
c.2421T>C (p.Thr807=)
c.2679T>C (p.Thr893=)
c.2574T>C (p.Thr858=)
c.906T>C (p.Thr302=)
c.2520T>C (p.Thr840=)
c.2598T>C (p.Thr866=)
c.2349T>C (p.Thr783=)
c.2580T>C (p.Thr860=)
c.1506T>C (p.Thr502=)
n.2561T>C
1g.151406329A>TCA29569403POGZc.2754T>A (p.Thr918=)
c.2547T>A (p.Thr849=)
c.2706T>A (p.Thr902=)
c.2727T>A (p.Thr909=)
n.2854T>A
c.2421T>A (p.Thr807=)
c.2679T>A (p.Thr893=)
c.2574T>A (p.Thr858=)
c.906T>A (p.Thr302=)
c.2520T>A (p.Thr840=)
c.2598T>A (p.Thr866=)
c.2349T>A (p.Thr783=)
c.2580T>A (p.Thr860=)
c.1506T>A (p.Thr502=)
n.2561T>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406330G>ACA341949404POGZc.2753C>T (p.Thr918Ile)
c.2546C>T (p.Thr849Ile)
c.2705C>T (p.Thr902Ile)
c.2726C>T (p.Thr909Ile)
n.2853C>T
c.2420C>T (p.Thr807Ile)
c.2678C>T (p.Thr893Ile)
c.2573C>T (p.Thr858Ile)
c.905C>T (p.Thr302Ile)
c.2519C>T (p.Thr840Ile)
c.2597C>T (p.Thr866Ile)
c.2348C>T (p.Thr783Ile)
c.2579C>T (p.Thr860Ile)
c.1505C>T (p.Thr502Ile)
n.2560C>T
 ClinVar dbSNP gnomAD v4
1g.151406330G>CCA341949399POGZc.2753C>G (p.Thr918Ser)
c.2546C>G (p.Thr849Ser)
c.2705C>G (p.Thr902Ser)
c.2726C>G (p.Thr909Ser)
n.2853C>G
c.2420C>G (p.Thr807Ser)
c.2678C>G (p.Thr893Ser)
c.2573C>G (p.Thr858Ser)
c.905C>G (p.Thr302Ser)
c.2519C>G (p.Thr840Ser)
c.2597C>G (p.Thr866Ser)
c.2348C>G (p.Thr783Ser)
c.2579C>G (p.Thr860Ser)
c.1505C>G (p.Thr502Ser)
n.2560C>G
 dbSNP
1g.151406330G=CA2479570609POGZc.2753C= (p.Thr918=)
c.2546C= (p.Thr849=)
c.2705C= (p.Thr902=)
c.2726C= (p.Thr909=)
n.2853C=
c.2420C= (p.Thr807=)
c.2678C= (p.Thr893=)
c.2573C= (p.Thr858=)
c.905C= (p.Thr302=)
c.2519C= (p.Thr840=)
c.2597C= (p.Thr866=)
c.2348C= (p.Thr783=)
c.2579C= (p.Thr860=)
c.1505C= (p.Thr502=)
n.2560C=
1g.151406330G>TCA341949402POGZc.2753C>A (p.Thr918Asn)
c.2546C>A (p.Thr849Asn)
c.2705C>A (p.Thr902Asn)
c.2726C>A (p.Thr909Asn)
n.2853C>A
c.2420C>A (p.Thr807Asn)
c.2678C>A (p.Thr893Asn)
c.2573C>A (p.Thr858Asn)
c.905C>A (p.Thr302Asn)
c.2519C>A (p.Thr840Asn)
c.2597C>A (p.Thr866Asn)
c.2348C>A (p.Thr783Asn)
c.2579C>A (p.Thr860Asn)
c.1505C>A (p.Thr502Asn)
n.2560C>A
1g.151406331T>ACA341949405POGZc.2752A>T (p.Thr918Ser)
c.2545A>T (p.Thr849Ser)
c.2704A>T (p.Thr902Ser)
c.2725A>T (p.Thr909Ser)
n.2852A>T
c.2419A>T (p.Thr807Ser)
c.2677A>T (p.Thr893Ser)
c.2572A>T (p.Thr858Ser)
c.904A>T (p.Thr302Ser)
c.2518A>T (p.Thr840Ser)
c.2596A>T (p.Thr866Ser)
c.2347A>T (p.Thr783Ser)
c.2578A>T (p.Thr860Ser)
c.1504A>T (p.Thr502Ser)
n.2559A>T
1g.151406331T>CCA341949408POGZc.2752A>G (p.Thr918Ala)
c.2545A>G (p.Thr849Ala)
c.2704A>G (p.Thr902Ala)
c.2725A>G (p.Thr909Ala)
n.2852A>G
c.2419A>G (p.Thr807Ala)
c.2677A>G (p.Thr893Ala)
c.2572A>G (p.Thr858Ala)
c.904A>G (p.Thr302Ala)
c.2518A>G (p.Thr840Ala)
c.2596A>G (p.Thr866Ala)
c.2347A>G (p.Thr783Ala)
c.2578A>G (p.Thr860Ala)
c.1504A>G (p.Thr502Ala)
n.2559A>G
1g.151406331T>GCA341949410POGZc.2752A>C (p.Thr918Pro)
c.2545A>C (p.Thr849Pro)
c.2704A>C (p.Thr902Pro)
c.2725A>C (p.Thr909Pro)
n.2852A>C
c.2419A>C (p.Thr807Pro)
c.2677A>C (p.Thr893Pro)
c.2572A>C (p.Thr858Pro)
c.904A>C (p.Thr302Pro)
c.2518A>C (p.Thr840Pro)
c.2596A>C (p.Thr866Pro)
c.2347A>C (p.Thr783Pro)
c.2578A>C (p.Thr860Pro)
c.1504A>C (p.Thr502Pro)
n.2559A>C
 dbSNP
1g.151406331T=CA2479570610POGZc.2752A= (p.Thr918=)
c.2545A= (p.Thr849=)
c.2704A= (p.Thr902=)
c.2725A= (p.Thr909=)
n.2852A=
c.2419A= (p.Thr807=)
c.2677A= (p.Thr893=)
c.2572A= (p.Thr858=)
c.904A= (p.Thr302=)
c.2518A= (p.Thr840=)
c.2596A= (p.Thr866=)
c.2347A= (p.Thr783=)
c.2578A= (p.Thr860=)
c.1504A= (p.Thr502=)
n.2559A=
1g.151406332T>ACA420910439POGZc.2751A>T (p.Leu917=)
c.2544A>T (p.Leu848=)
c.2703A>T (p.Leu901=)
c.2724A>T (p.Leu908=)
n.2851A>T
c.2418A>T (p.Leu806=)
c.2676A>T (p.Leu892=)
c.2571A>T (p.Leu857=)
c.903A>T (p.Leu301=)
c.2517A>T (p.Leu839=)
c.2595A>T (p.Leu865=)
c.2346A>T (p.Leu782=)
c.2577A>T (p.Leu859=)
c.1503A>T (p.Leu501=)
n.2558A>T
1g.151406332T>CCA420910440POGZc.2751A>G (p.Leu917=)
c.2544A>G (p.Leu848=)
c.2703A>G (p.Leu901=)
c.2724A>G (p.Leu908=)
n.2851A>G
c.2418A>G (p.Leu806=)
c.2676A>G (p.Leu892=)
c.2571A>G (p.Leu857=)
c.903A>G (p.Leu301=)
c.2517A>G (p.Leu839=)
c.2595A>G (p.Leu865=)
c.2346A>G (p.Leu782=)
c.2577A>G (p.Leu859=)
c.1503A>G (p.Leu501=)
n.2558A>G
1g.151406332T>GCA420910441POGZc.2751A>C (p.Leu917=)
c.2544A>C (p.Leu848=)
c.2703A>C (p.Leu901=)
c.2724A>C (p.Leu908=)
n.2851A>C
c.2418A>C (p.Leu806=)
c.2676A>C (p.Leu892=)
c.2571A>C (p.Leu857=)
c.903A>C (p.Leu301=)
c.2517A>C (p.Leu839=)
c.2595A>C (p.Leu865=)
c.2346A>C (p.Leu782=)
c.2577A>C (p.Leu859=)
c.1503A>C (p.Leu501=)
n.2558A>C
1g.151406333A=CA2479570611POGZc.2750T= (p.Leu917=)
c.2543T= (p.Leu848=)
c.2702T= (p.Leu901=)
c.2723T= (p.Leu908=)
n.2850T=
c.2417T= (p.Leu806=)
c.2675T= (p.Leu892=)
c.2570T= (p.Leu857=)
c.902T= (p.Leu301=)
c.2516T= (p.Leu839=)
c.2594T= (p.Leu865=)
c.2345T= (p.Leu782=)
c.2576T= (p.Leu859=)
c.1502T= (p.Leu501=)
n.2557T=
1g.151406333A>CCA341949413POGZc.2750T>G (p.Leu917Arg)
c.2543T>G (p.Leu848Arg)
c.2702T>G (p.Leu901Arg)
c.2723T>G (p.Leu908Arg)
n.2850T>G
c.2417T>G (p.Leu806Arg)
c.2675T>G (p.Leu892Arg)
c.2570T>G (p.Leu857Arg)
c.902T>G (p.Leu301Arg)
c.2516T>G (p.Leu839Arg)
c.2594T>G (p.Leu865Arg)
c.2345T>G (p.Leu782Arg)
c.2576T>G (p.Leu859Arg)
c.1502T>G (p.Leu501Arg)
n.2557T>G
 dbSNP gnomAD v3 gnomAD v4
1g.151406333A>GCA341949414POGZc.2750T>C (p.Leu917Pro)
c.2543T>C (p.Leu848Pro)
c.2702T>C (p.Leu901Pro)
c.2723T>C (p.Leu908Pro)
n.2850T>C
c.2417T>C (p.Leu806Pro)
c.2675T>C (p.Leu892Pro)
c.2570T>C (p.Leu857Pro)
c.902T>C (p.Leu301Pro)
c.2516T>C (p.Leu839Pro)
c.2594T>C (p.Leu865Pro)
c.2345T>C (p.Leu782Pro)
c.2576T>C (p.Leu859Pro)
c.1502T>C (p.Leu501Pro)
n.2557T>C
1g.151406333A>TCA341949415POGZc.2750T>A (p.Leu917Gln)
c.2543T>A (p.Leu848Gln)
c.2702T>A (p.Leu901Gln)
c.2723T>A (p.Leu908Gln)
n.2850T>A
c.2417T>A (p.Leu806Gln)
c.2675T>A (p.Leu892Gln)
c.2570T>A (p.Leu857Gln)
c.902T>A (p.Leu301Gln)
c.2516T>A (p.Leu839Gln)
c.2594T>A (p.Leu865Gln)
c.2345T>A (p.Leu782Gln)
c.2576T>A (p.Leu859Gln)
c.1502T>A (p.Leu501Gln)
n.2557T>A
1g.151406334G>ACA420910448POGZc.2749C>T (p.Leu917=)
c.2542C>T (p.Leu848=)
c.2701C>T (p.Leu901=)
c.2722C>T (p.Leu908=)
n.2849C>T
c.2416C>T (p.Leu806=)
c.2674C>T (p.Leu892=)
c.2569C>T (p.Leu857=)
c.901C>T (p.Leu301=)
c.2515C>T (p.Leu839=)
c.2593C>T (p.Leu865=)
c.2344C>T (p.Leu782=)
c.2575C>T (p.Leu859=)
c.1501C>T (p.Leu501=)
n.2556C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406334G>CCA341949416POGZc.2749C>G (p.Leu917Val)
c.2542C>G (p.Leu848Val)
c.2701C>G (p.Leu901Val)
c.2722C>G (p.Leu908Val)
n.2849C>G
c.2416C>G (p.Leu806Val)
c.2674C>G (p.Leu892Val)
c.2569C>G (p.Leu857Val)
c.901C>G (p.Leu301Val)
c.2515C>G (p.Leu839Val)
c.2593C>G (p.Leu865Val)
c.2344C>G (p.Leu782Val)
c.2575C>G (p.Leu859Val)
c.1501C>G (p.Leu501Val)
n.2556C>G
1g.151406334G=CA2479570612POGZc.2749C= (p.Leu917=)
c.2542C= (p.Leu848=)
c.2701C= (p.Leu901=)
c.2722C= (p.Leu908=)
n.2849C=
c.2416C= (p.Leu806=)
c.2674C= (p.Leu892=)
c.2569C= (p.Leu857=)
c.901C= (p.Leu301=)
c.2515C= (p.Leu839=)
c.2593C= (p.Leu865=)
c.2344C= (p.Leu782=)
c.2575C= (p.Leu859=)
c.1501C= (p.Leu501=)
n.2556C=
1g.151406334G>TCA341949417POGZc.2749C>A (p.Leu917Ile)
c.2542C>A (p.Leu848Ile)
c.2701C>A (p.Leu901Ile)
c.2722C>A (p.Leu908Ile)
n.2849C>A
c.2416C>A (p.Leu806Ile)
c.2674C>A (p.Leu892Ile)
c.2569C>A (p.Leu857Ile)
c.901C>A (p.Leu301Ile)
c.2515C>A (p.Leu839Ile)
c.2593C>A (p.Leu865Ile)
c.2344C>A (p.Leu782Ile)
c.2575C>A (p.Leu859Ile)
c.1501C>A (p.Leu501Ile)
n.2556C>A
1g.151406335T>ACA420910449POGZc.2748A>T (p.Leu916=)
c.2541A>T (p.Leu847=)
c.2700A>T (p.Leu900=)
c.2721A>T (p.Leu907=)
n.2848A>T
c.2415A>T (p.Leu805=)
c.2673A>T (p.Leu891=)
c.2568A>T (p.Leu856=)
c.900A>T (p.Leu300=)
c.2514A>T (p.Leu838=)
c.2592A>T (p.Leu864=)
c.2343A>T (p.Leu781=)
c.2574A>T (p.Leu858=)
c.1500A>T (p.Leu500=)
n.2555A>T
1g.151406335T>CCA29569405POGZc.2748A>G (p.Leu916=)
c.2541A>G (p.Leu847=)
c.2700A>G (p.Leu900=)
c.2721A>G (p.Leu907=)
n.2848A>G
c.2415A>G (p.Leu805=)
c.2673A>G (p.Leu891=)
c.2568A>G (p.Leu856=)
c.900A>G (p.Leu300=)
c.2514A>G (p.Leu838=)
c.2592A>G (p.Leu864=)
c.2343A>G (p.Leu781=)
c.2574A>G (p.Leu858=)
c.1500A>G (p.Leu500=)
n.2555A>G
 dbSNP gnomAD v3 gnomAD v4
1g.151406335T>GCA420910450POGZc.2748A>C (p.Leu916=)
c.2541A>C (p.Leu847=)
c.2700A>C (p.Leu900=)
c.2721A>C (p.Leu907=)
n.2848A>C
c.2415A>C (p.Leu805=)
c.2673A>C (p.Leu891=)
c.2568A>C (p.Leu856=)
c.900A>C (p.Leu300=)
c.2514A>C (p.Leu838=)
c.2592A>C (p.Leu864=)
c.2343A>C (p.Leu781=)
c.2574A>C (p.Leu858=)
c.1500A>C (p.Leu500=)
n.2555A>C
1g.151406335T=CA2479570613POGZc.2748A= (p.Leu916=)
c.2541A= (p.Leu847=)
c.2700A= (p.Leu900=)
c.2721A= (p.Leu907=)
n.2848A=
c.2415A= (p.Leu805=)
c.2673A= (p.Leu891=)
c.2568A= (p.Leu856=)
c.900A= (p.Leu300=)
c.2514A= (p.Leu838=)
c.2592A= (p.Leu864=)
c.2343A= (p.Leu781=)
c.2574A= (p.Leu858=)
c.1500A= (p.Leu500=)
n.2555A=
1g.151406336A=CA2479570614POGZc.2747T= (p.Leu916=)
c.2540T= (p.Leu847=)
c.2699T= (p.Leu900=)
c.2720T= (p.Leu907=)
n.2847T=
c.2414T= (p.Leu805=)
c.2672T= (p.Leu891=)
c.2567T= (p.Leu856=)
c.899T= (p.Leu300=)
c.2513T= (p.Leu838=)
c.2591T= (p.Leu864=)
c.2342T= (p.Leu781=)
c.2573T= (p.Leu858=)
c.1499T= (p.Leu500=)
n.2554T=
1g.151406336A>CCA29569410POGZc.2747T>G (p.Leu916Arg)
c.2540T>G (p.Leu847Arg)
c.2699T>G (p.Leu900Arg)
c.2720T>G (p.Leu907Arg)
n.2847T>G
c.2414T>G (p.Leu805Arg)
c.2672T>G (p.Leu891Arg)
c.2567T>G (p.Leu856Arg)
c.899T>G (p.Leu300Arg)
c.2513T>G (p.Leu838Arg)
c.2591T>G (p.Leu864Arg)
c.2342T>G (p.Leu781Arg)
c.2573T>G (p.Leu858Arg)
c.1499T>G (p.Leu500Arg)
n.2554T>G
 ClinVar dbSNP
1g.151406336A>GCA341949424POGZc.2747T>C (p.Leu916Pro)
c.2540T>C (p.Leu847Pro)
c.2699T>C (p.Leu900Pro)
c.2720T>C (p.Leu907Pro)
n.2847T>C
c.2414T>C (p.Leu805Pro)
c.2672T>C (p.Leu891Pro)
c.2567T>C (p.Leu856Pro)
c.899T>C (p.Leu300Pro)
c.2513T>C (p.Leu838Pro)
c.2591T>C (p.Leu864Pro)
c.2342T>C (p.Leu781Pro)
c.2573T>C (p.Leu858Pro)
c.1499T>C (p.Leu500Pro)
n.2554T>C
1g.151406336A>TCA341949426POGZc.2747T>A (p.Leu916Gln)
c.2540T>A (p.Leu847Gln)
c.2699T>A (p.Leu900Gln)
c.2720T>A (p.Leu907Gln)
n.2847T>A
c.2414T>A (p.Leu805Gln)
c.2672T>A (p.Leu891Gln)
c.2567T>A (p.Leu856Gln)
c.899T>A (p.Leu300Gln)
c.2513T>A (p.Leu838Gln)
c.2591T>A (p.Leu864Gln)
c.2342T>A (p.Leu781Gln)
c.2573T>A (p.Leu858Gln)
c.1499T>A (p.Leu500Gln)
n.2554T>A
1g.151406337G>ACA420909627POGZc.2746C>T (p.Leu916=)
c.2539C>T (p.Leu847=)
c.2698C>T (p.Leu900=)
c.2719C>T (p.Leu907=)
n.2846C>T
c.2413C>T (p.Leu805=)
c.2671C>T (p.Leu891=)
c.2566C>T (p.Leu856=)
c.898C>T (p.Leu300=)
c.2512C>T (p.Leu838=)
c.2590C>T (p.Leu864=)
c.2341C>T (p.Leu781=)
c.2572C>T (p.Leu858=)
c.1498C>T (p.Leu500=)
n.2553C>T
1g.151406337G>CCA341949434POGZc.2746C>G (p.Leu916Val)
c.2539C>G (p.Leu847Val)
c.2698C>G (p.Leu900Val)
c.2719C>G (p.Leu907Val)
n.2846C>G
c.2413C>G (p.Leu805Val)
c.2671C>G (p.Leu891Val)
c.2566C>G (p.Leu856Val)
c.898C>G (p.Leu300Val)
c.2512C>G (p.Leu838Val)
c.2590C>G (p.Leu864Val)
c.2341C>G (p.Leu781Val)
c.2572C>G (p.Leu858Val)
c.1498C>G (p.Leu500Val)
n.2553C>G
 gnomAD v4
1g.151406337G>TCA341949431POGZc.2746C>A (p.Leu916Ile)
c.2539C>A (p.Leu847Ile)
c.2698C>A (p.Leu900Ile)
c.2719C>A (p.Leu907Ile)
n.2846C>A
c.2413C>A (p.Leu805Ile)
c.2671C>A (p.Leu891Ile)
c.2566C>A (p.Leu856Ile)
c.898C>A (p.Leu300Ile)
c.2512C>A (p.Leu838Ile)
c.2590C>A (p.Leu864Ile)
c.2341C>A (p.Leu781Ile)
c.2572C>A (p.Leu858Ile)
c.1498C>A (p.Leu500Ile)
n.2553C>A
1g.151406338C>ACA341949438POGZc.2745G>T (p.Glu915Asp)
c.2538G>T (p.Glu846Asp)
c.2697G>T (p.Glu899Asp)
c.2718G>T (p.Glu906Asp)
n.2845G>T
c.2412G>T (p.Glu804Asp)
c.2670G>T (p.Glu890Asp)
c.2565G>T (p.Glu855Asp)
c.897G>T (p.Glu299Asp)
c.2511G>T (p.Glu837Asp)
c.2589G>T (p.Glu863Asp)
c.2340G>T (p.Glu780Asp)
c.2571G>T (p.Glu857Asp)
c.1497G>T (p.Glu499Asp)
n.2552G>T
 gnomAD v4
1g.151406338C=CA2479570615POGZc.2745G= (p.Glu915=)
c.2538G= (p.Glu846=)
c.2697G= (p.Glu899=)
c.2718G= (p.Glu906=)
n.2845G=
c.2412G= (p.Glu804=)
c.2670G= (p.Glu890=)
c.2565G= (p.Glu855=)
c.897G= (p.Glu299=)
c.2511G= (p.Glu837=)
c.2589G= (p.Glu863=)
c.2340G= (p.Glu780=)
c.2571G= (p.Glu857=)
c.1497G= (p.Glu499=)
n.2552G=
1g.151406338C>GCA341949441POGZc.2745G>C (p.Glu915Asp)
c.2538G>C (p.Glu846Asp)
c.2697G>C (p.Glu899Asp)
c.2718G>C (p.Glu906Asp)
n.2845G>C
c.2412G>C (p.Glu804Asp)
c.2670G>C (p.Glu890Asp)
c.2565G>C (p.Glu855Asp)
c.897G>C (p.Glu299Asp)
c.2511G>C (p.Glu837Asp)
c.2589G>C (p.Glu863Asp)
c.2340G>C (p.Glu780Asp)
c.2571G>C (p.Glu857Asp)
c.1497G>C (p.Glu499Asp)
n.2552G>C
1g.151406338C>TCA420909628POGZc.2745G>A (p.Glu915=)
c.2538G>A (p.Glu846=)
c.2697G>A (p.Glu899=)
c.2718G>A (p.Glu906=)
n.2845G>A
c.2412G>A (p.Glu804=)
c.2670G>A (p.Glu890=)
c.2565G>A (p.Glu855=)
c.897G>A (p.Glu299=)
c.2511G>A (p.Glu837=)
c.2589G>A (p.Glu863=)
c.2340G>A (p.Glu780=)
c.2571G>A (p.Glu857=)
c.1497G>A (p.Glu499=)
n.2552G>A
 dbSNP
1g.151406339T>ACA341949445POGZc.2744A>T (p.Glu915Val)
c.2537A>T (p.Glu846Val)
c.2696A>T (p.Glu899Val)
c.2717A>T (p.Glu906Val)
n.2844A>T
c.2411A>T (p.Glu804Val)
c.2669A>T (p.Glu890Val)
c.2564A>T (p.Glu855Val)
c.896A>T (p.Glu299Val)
c.2510A>T (p.Glu837Val)
c.2588A>T (p.Glu863Val)
c.2339A>T (p.Glu780Val)
c.2570A>T (p.Glu857Val)
c.1496A>T (p.Glu499Val)
n.2551A>T
1g.151406339T>CCA341949448POGZc.2744A>G (p.Glu915Gly)
c.2537A>G (p.Glu846Gly)
c.2696A>G (p.Glu899Gly)
c.2717A>G (p.Glu906Gly)
n.2844A>G
c.2411A>G (p.Glu804Gly)
c.2669A>G (p.Glu890Gly)
c.2564A>G (p.Glu855Gly)
c.896A>G (p.Glu299Gly)
c.2510A>G (p.Glu837Gly)
c.2588A>G (p.Glu863Gly)
c.2339A>G (p.Glu780Gly)
c.2570A>G (p.Glu857Gly)
c.1496A>G (p.Glu499Gly)
n.2551A>G
1g.151406339T>GCA341949451POGZc.2744A>C (p.Glu915Ala)
c.2537A>C (p.Glu846Ala)
c.2696A>C (p.Glu899Ala)
c.2717A>C (p.Glu906Ala)
n.2844A>C
c.2411A>C (p.Glu804Ala)
c.2669A>C (p.Glu890Ala)
c.2564A>C (p.Glu855Ala)
c.896A>C (p.Glu299Ala)
c.2510A>C (p.Glu837Ala)
c.2588A>C (p.Glu863Ala)
c.2339A>C (p.Glu780Ala)
c.2570A>C (p.Glu857Ala)
c.1496A>C (p.Glu499Ala)
n.2551A>C
1g.151406340C>ACA341949455POGZc.2743G>T (p.Glu915Ter)
c.2536G>T (p.Glu846Ter)
c.2695G>T (p.Glu899Ter)
c.2716G>T (p.Glu906Ter)
n.2843G>T
c.2410G>T (p.Glu804Ter)
c.2668G>T (p.Glu890Ter)
c.2563G>T (p.Glu855Ter)
c.895G>T (p.Glu299Ter)
c.2509G>T (p.Glu837Ter)
c.2587G>T (p.Glu863Ter)
c.2338G>T (p.Glu780Ter)
c.2569G>T (p.Glu857Ter)
c.1495G>T (p.Glu499Ter)
n.2550G>T
1g.151406340C>GCA341949457POGZc.2743G>C (p.Glu915Gln)
c.2536G>C (p.Glu846Gln)
c.2695G>C (p.Glu899Gln)
c.2716G>C (p.Glu906Gln)
n.2843G>C
c.2410G>C (p.Glu804Gln)
c.2668G>C (p.Glu890Gln)
c.2563G>C (p.Glu855Gln)
c.895G>C (p.Glu299Gln)
c.2509G>C (p.Glu837Gln)
c.2587G>C (p.Glu863Gln)
c.2338G>C (p.Glu780Gln)
c.2569G>C (p.Glu857Gln)
c.1495G>C (p.Glu499Gln)
n.2550G>C
1g.151406340C>TCA341949461POGZc.2743G>A (p.Glu915Lys)
c.2536G>A (p.Glu846Lys)
c.2695G>A (p.Glu899Lys)
c.2716G>A (p.Glu906Lys)
n.2843G>A
c.2410G>A (p.Glu804Lys)
c.2668G>A (p.Glu890Lys)
c.2563G>A (p.Glu855Lys)
c.895G>A (p.Glu299Lys)
c.2509G>A (p.Glu837Lys)
c.2587G>A (p.Glu863Lys)
c.2338G>A (p.Glu780Lys)
c.2569G>A (p.Glu857Lys)
c.1495G>A (p.Glu499Lys)
n.2550G>A
1g.151406341T>ACA341949466POGZc.2742A>T (p.Glu914Asp)
c.2535A>T (p.Glu845Asp)
c.2694A>T (p.Glu898Asp)
c.2715A>T (p.Glu905Asp)
n.2842A>T
c.2409A>T (p.Glu803Asp)
c.2667A>T (p.Glu889Asp)
c.2562A>T (p.Glu854Asp)
c.894A>T (p.Glu298Asp)
c.2508A>T (p.Glu836Asp)
c.2586A>T (p.Glu862Asp)
c.2337A>T (p.Glu779Asp)
c.2568A>T (p.Glu856Asp)
c.1494A>T (p.Glu498Asp)
n.2549A>T
1g.151406341T>CCA420909632POGZc.2742A>G (p.Glu914=)
c.2535A>G (p.Glu845=)
c.2694A>G (p.Glu898=)
c.2715A>G (p.Glu905=)
n.2842A>G
c.2409A>G (p.Glu803=)
c.2667A>G (p.Glu889=)
c.2562A>G (p.Glu854=)
c.894A>G (p.Glu298=)
c.2508A>G (p.Glu836=)
c.2586A>G (p.Glu862=)
c.2337A>G (p.Glu779=)
c.2568A>G (p.Glu856=)
c.1494A>G (p.Glu498=)
n.2549A>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406341T>GCA341949468POGZc.2742A>C (p.Glu914Asp)
c.2535A>C (p.Glu845Asp)
c.2694A>C (p.Glu898Asp)
c.2715A>C (p.Glu905Asp)
n.2842A>C
c.2409A>C (p.Glu803Asp)
c.2667A>C (p.Glu889Asp)
c.2562A>C (p.Glu854Asp)
c.894A>C (p.Glu298Asp)
c.2508A>C (p.Glu836Asp)
c.2586A>C (p.Glu862Asp)
c.2337A>C (p.Glu779Asp)
c.2568A>C (p.Glu856Asp)
c.1494A>C (p.Glu498Asp)
n.2549A>C
1g.151406341T=CA2479570616POGZc.2742A= (p.Glu914=)
c.2535A= (p.Glu845=)
c.2694A= (p.Glu898=)
c.2715A= (p.Glu905=)
n.2842A=
c.2409A= (p.Glu803=)
c.2667A= (p.Glu889=)
c.2562A= (p.Glu854=)
c.894A= (p.Glu298=)
c.2508A= (p.Glu836=)
c.2586A= (p.Glu862=)
c.2337A= (p.Glu779=)
c.2568A= (p.Glu856=)
c.1494A= (p.Glu498=)
n.2549A=
1g.151406342T>ACA341949472POGZc.2741A>T (p.Glu914Val)
c.2534A>T (p.Glu845Val)
c.2693A>T (p.Glu898Val)
c.2714A>T (p.Glu905Val)
n.2841A>T
c.2408A>T (p.Glu803Val)
c.2666A>T (p.Glu889Val)
c.2561A>T (p.Glu854Val)
c.893A>T (p.Glu298Val)
c.2507A>T (p.Glu836Val)
c.2585A>T (p.Glu862Val)
c.2336A>T (p.Glu779Val)
c.2567A>T (p.Glu856Val)
c.1493A>T (p.Glu498Val)
n.2548A>T
1g.151406342T>CCA341949475POGZc.2741A>G (p.Glu914Gly)
c.2534A>G (p.Glu845Gly)
c.2693A>G (p.Glu898Gly)
c.2714A>G (p.Glu905Gly)
n.2841A>G
c.2408A>G (p.Glu803Gly)
c.2666A>G (p.Glu889Gly)
c.2561A>G (p.Glu854Gly)
c.893A>G (p.Glu298Gly)
c.2507A>G (p.Glu836Gly)
c.2585A>G (p.Glu862Gly)
c.2336A>G (p.Glu779Gly)
c.2567A>G (p.Glu856Gly)
c.1493A>G (p.Glu498Gly)
n.2548A>G
1g.151406342T>GCA341949476POGZc.2741A>C (p.Glu914Ala)
c.2534A>C (p.Glu845Ala)
c.2693A>C (p.Glu898Ala)
c.2714A>C (p.Glu905Ala)
n.2841A>C
c.2408A>C (p.Glu803Ala)
c.2666A>C (p.Glu889Ala)
c.2561A>C (p.Glu854Ala)
c.893A>C (p.Glu298Ala)
c.2507A>C (p.Glu836Ala)
c.2585A>C (p.Glu862Ala)
c.2336A>C (p.Glu779Ala)
c.2567A>C (p.Glu856Ala)
c.1493A>C (p.Glu498Ala)
n.2548A>C
 dbSNP
1g.151406342T=CA2479570617POGZc.2741A= (p.Glu914=)
c.2534A= (p.Glu845=)
c.2693A= (p.Glu898=)
c.2714A= (p.Glu905=)
n.2841A=
c.2408A= (p.Glu803=)
c.2666A= (p.Glu889=)
c.2561A= (p.Glu854=)
c.893A= (p.Glu298=)
c.2507A= (p.Glu836=)
c.2585A= (p.Glu862=)
c.2336A= (p.Glu779=)
c.2567A= (p.Glu856=)
c.1493A= (p.Glu498=)
n.2548A=
1g.151406343C>ACA341949477POGZc.2740G>T (p.Glu914Ter)
c.2533G>T (p.Glu845Ter)
c.2692G>T (p.Glu898Ter)
c.2713G>T (p.Glu905Ter)
n.2840G>T
c.2407G>T (p.Glu803Ter)
c.2665G>T (p.Glu889Ter)
c.2560G>T (p.Glu854Ter)
c.892G>T (p.Glu298Ter)
c.2506G>T (p.Glu836Ter)
c.2584G>T (p.Glu862Ter)
c.2335G>T (p.Glu779Ter)
c.2566G>T (p.Glu856Ter)
c.1492G>T (p.Glu498Ter)
n.2547G>T
1g.151406343C=CA2479570618POGZc.2740G= (p.Glu914=)
c.2533G= (p.Glu845=)
c.2692G= (p.Glu898=)
c.2713G= (p.Glu905=)
n.2840G=
c.2407G= (p.Glu803=)
c.2665G= (p.Glu889=)
c.2560G= (p.Glu854=)
c.892G= (p.Glu298=)
c.2506G= (p.Glu836=)
c.2584G= (p.Glu862=)
c.2335G= (p.Glu779=)
c.2566G= (p.Glu856=)
c.1492G= (p.Glu498=)
n.2547G=
1g.151406343C>GCA341949483POGZc.2740G>C (p.Glu914Gln)
c.2533G>C (p.Glu845Gln)
c.2692G>C (p.Glu898Gln)
c.2713G>C (p.Glu905Gln)
n.2840G>C
c.2407G>C (p.Glu803Gln)
c.2665G>C (p.Glu889Gln)
c.2560G>C (p.Glu854Gln)
c.892G>C (p.Glu298Gln)
c.2506G>C (p.Glu836Gln)
c.2584G>C (p.Glu862Gln)
c.2335G>C (p.Glu779Gln)
c.2566G>C (p.Glu856Gln)
c.1492G>C (p.Glu498Gln)
n.2547G>C
1g.151406343C>TCA341949480POGZc.2740G>A (p.Glu914Lys)
c.2533G>A (p.Glu845Lys)
c.2692G>A (p.Glu898Lys)
c.2713G>A (p.Glu905Lys)
n.2840G>A
c.2407G>A (p.Glu803Lys)
c.2665G>A (p.Glu889Lys)
c.2560G>A (p.Glu854Lys)
c.892G>A (p.Glu298Lys)
c.2506G>A (p.Glu836Lys)
c.2584G>A (p.Glu862Lys)
c.2335G>A (p.Glu779Lys)
c.2566G>A (p.Glu856Lys)
c.1492G>A (p.Glu498Lys)
n.2547G>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406344A=CA2479570619POGZc.2739T= (p.Pro913=)
c.2532T= (p.Pro844=)
c.2691T= (p.Pro897=)
c.2712T= (p.Pro904=)
n.2839T=
c.2406T= (p.Pro802=)
c.2664T= (p.Pro888=)
c.2559T= (p.Pro853=)
c.891T= (p.Pro297=)
c.2505T= (p.Pro835=)
c.2583T= (p.Pro861=)
c.2334T= (p.Pro778=)
c.2565T= (p.Pro855=)
c.1491T= (p.Pro497=)
n.2546T=
1g.151406344A>CCA420909642POGZc.2739T>G (p.Pro913=)
c.2532T>G (p.Pro844=)
c.2691T>G (p.Pro897=)
c.2712T>G (p.Pro904=)
n.2839T>G
c.2406T>G (p.Pro802=)
c.2664T>G (p.Pro888=)
c.2559T>G (p.Pro853=)
c.891T>G (p.Pro297=)
c.2505T>G (p.Pro835=)
c.2583T>G (p.Pro861=)
c.2334T>G (p.Pro778=)
c.2565T>G (p.Pro855=)
c.1491T>G (p.Pro497=)
n.2546T>G
1g.151406344A>GCA420909640POGZc.2739T>C (p.Pro913=)
c.2532T>C (p.Pro844=)
c.2691T>C (p.Pro897=)
c.2712T>C (p.Pro904=)
n.2839T>C
c.2406T>C (p.Pro802=)
c.2664T>C (p.Pro888=)
c.2559T>C (p.Pro853=)
c.891T>C (p.Pro297=)
c.2505T>C (p.Pro835=)
c.2583T>C (p.Pro861=)
c.2334T>C (p.Pro778=)
c.2565T>C (p.Pro855=)
c.1491T>C (p.Pro497=)
n.2546T>C
 dbSNP gnomAD v4
1g.151406344A>TCA420909641POGZc.2739T>A (p.Pro913=)
c.2532T>A (p.Pro844=)
c.2691T>A (p.Pro897=)
c.2712T>A (p.Pro904=)
n.2839T>A
c.2406T>A (p.Pro802=)
c.2664T>A (p.Pro888=)
c.2559T>A (p.Pro853=)
c.891T>A (p.Pro297=)
c.2505T>A (p.Pro835=)
c.2583T>A (p.Pro861=)
c.2334T>A (p.Pro778=)
c.2565T>A (p.Pro855=)
c.1491T>A (p.Pro497=)
n.2546T>A
1g.151406345G>ACA341949486POGZc.2738C>T (p.Pro913Leu)
c.2531C>T (p.Pro844Leu)
c.2690C>T (p.Pro897Leu)
c.2711C>T (p.Pro904Leu)
n.2838C>T
c.2405C>T (p.Pro802Leu)
c.2663C>T (p.Pro888Leu)
c.2558C>T (p.Pro853Leu)
c.890C>T (p.Pro297Leu)
c.2504C>T (p.Pro835Leu)
c.2582C>T (p.Pro861Leu)
c.2333C>T (p.Pro778Leu)
c.2564C>T (p.Pro855Leu)
c.1490C>T (p.Pro497Leu)
n.2545C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406345G>CCA341949488POGZc.2738C>G (p.Pro913Arg)
c.2531C>G (p.Pro844Arg)
c.2690C>G (p.Pro897Arg)
c.2711C>G (p.Pro904Arg)
n.2838C>G
c.2405C>G (p.Pro802Arg)
c.2663C>G (p.Pro888Arg)
c.2558C>G (p.Pro853Arg)
c.890C>G (p.Pro297Arg)
c.2504C>G (p.Pro835Arg)
c.2582C>G (p.Pro861Arg)
c.2333C>G (p.Pro778Arg)
c.2564C>G (p.Pro855Arg)
c.1490C>G (p.Pro497Arg)
n.2545C>G
1g.151406345G=CA2479570620POGZc.2738C= (p.Pro913=)
c.2531C= (p.Pro844=)
c.2690C= (p.Pro897=)
c.2711C= (p.Pro904=)
n.2838C=
c.2405C= (p.Pro802=)
c.2663C= (p.Pro888=)
c.2558C= (p.Pro853=)
c.890C= (p.Pro297=)
c.2504C= (p.Pro835=)
c.2582C= (p.Pro861=)
c.2333C= (p.Pro778=)
c.2564C= (p.Pro855=)
c.1490C= (p.Pro497=)
n.2545C=
1g.151406345G>TCA341949491POGZc.2738C>A (p.Pro913His)
c.2531C>A (p.Pro844His)
c.2690C>A (p.Pro897His)
c.2711C>A (p.Pro904His)
n.2838C>A
c.2405C>A (p.Pro802His)
c.2663C>A (p.Pro888His)
c.2558C>A (p.Pro853His)
c.890C>A (p.Pro297His)
c.2504C>A (p.Pro835His)
c.2582C>A (p.Pro861His)
c.2333C>A (p.Pro778His)
c.2564C>A (p.Pro855His)
c.1490C>A (p.Pro497His)
n.2545C>A
1g.151406346G>ACA341949492POGZc.2737C>T (p.Pro913Ser)
c.2530C>T (p.Pro844Ser)
c.2689C>T (p.Pro897Ser)
c.2710C>T (p.Pro904Ser)
n.2837C>T
c.2404C>T (p.Pro802Ser)
c.2662C>T (p.Pro888Ser)
c.2557C>T (p.Pro853Ser)
c.889C>T (p.Pro297Ser)
c.2503C>T (p.Pro835Ser)
c.2581C>T (p.Pro861Ser)
c.2332C>T (p.Pro778Ser)
c.2563C>T (p.Pro855Ser)
c.1489C>T (p.Pro497Ser)
n.2544C>T
1g.151406346G>CCA341949493POGZc.2737C>G (p.Pro913Ala)
c.2530C>G (p.Pro844Ala)
c.2689C>G (p.Pro897Ala)
c.2710C>G (p.Pro904Ala)
n.2837C>G
c.2404C>G (p.Pro802Ala)
c.2662C>G (p.Pro888Ala)
c.2557C>G (p.Pro853Ala)
c.889C>G (p.Pro297Ala)
c.2503C>G (p.Pro835Ala)
c.2581C>G (p.Pro861Ala)
c.2332C>G (p.Pro778Ala)
c.2563C>G (p.Pro855Ala)
c.1489C>G (p.Pro497Ala)
n.2544C>G
1g.151406346G>TCA341949494POGZc.2737C>A (p.Pro913Thr)
c.2530C>A (p.Pro844Thr)
c.2689C>A (p.Pro897Thr)
c.2710C>A (p.Pro904Thr)
n.2837C>A
c.2404C>A (p.Pro802Thr)
c.2662C>A (p.Pro888Thr)
c.2557C>A (p.Pro853Thr)
c.889C>A (p.Pro297Thr)
c.2503C>A (p.Pro835Thr)
c.2581C>A (p.Pro861Thr)
c.2332C>A (p.Pro778Thr)
c.2563C>A (p.Pro855Thr)
c.1489C>A (p.Pro497Thr)
n.2544C>A
1g.151406347C>ACA1091080POGZc.2736G>T (p.Glu912Asp)
c.2529G>T (p.Glu843Asp)
c.2688G>T (p.Glu896Asp)
c.2709G>T (p.Glu903Asp)
n.2836G>T
c.2403G>T (p.Glu801Asp)
c.2661G>T (p.Glu887Asp)
c.2556G>T (p.Glu852Asp)
c.888G>T (p.Glu296Asp)
c.2502G>T (p.Glu834Asp)
c.2580G>T (p.Glu860Asp)
c.2331G>T (p.Glu777Asp)
c.2562G>T (p.Glu854Asp)
c.1488G>T (p.Glu496Asp)
n.2543G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406347C=CA1148900783POGZc.2736G= (p.Glu912=)
c.2529G= (p.Glu843=)
c.2688G= (p.Glu896=)
c.2709G= (p.Glu903=)
n.2836G=
c.2403G= (p.Glu801=)
c.2661G= (p.Glu887=)
c.2556G= (p.Glu852=)
c.888G= (p.Glu296=)
c.2502G= (p.Glu834=)
c.2580G= (p.Glu860=)
c.2331G= (p.Glu777=)
c.2562G= (p.Glu854=)
c.1488G= (p.Glu496=)
n.2543G=
1g.151406347C>GCA341949496POGZc.2736G>C (p.Glu912Asp)
c.2529G>C (p.Glu843Asp)
c.2688G>C (p.Glu896Asp)
c.2709G>C (p.Glu903Asp)
n.2836G>C
c.2403G>C (p.Glu801Asp)
c.2661G>C (p.Glu887Asp)
c.2556G>C (p.Glu852Asp)
c.888G>C (p.Glu296Asp)
c.2502G>C (p.Glu834Asp)
c.2580G>C (p.Glu860Asp)
c.2331G>C (p.Glu777Asp)
c.2562G>C (p.Glu854Asp)
c.1488G>C (p.Glu496Asp)
n.2543G>C
1g.151406347C>TCA420909649POGZc.2736G>A (p.Glu912=)
c.2529G>A (p.Glu843=)
c.2688G>A (p.Glu896=)
c.2709G>A (p.Glu903=)
n.2836G>A
c.2403G>A (p.Glu801=)
c.2661G>A (p.Glu887=)
c.2556G>A (p.Glu852=)
c.888G>A (p.Glu296=)
c.2502G>A (p.Glu834=)
c.2580G>A (p.Glu860=)
c.2331G>A (p.Glu777=)
c.2562G>A (p.Glu854=)
c.1488G>A (p.Glu496=)
n.2543G>A
1g.151406348T>ACA341949500POGZc.2735A>T (p.Glu912Val)
c.2528A>T (p.Glu843Val)
c.2687A>T (p.Glu896Val)
c.2708A>T (p.Glu903Val)
n.2835A>T
c.2402A>T (p.Glu801Val)
c.2660A>T (p.Glu887Val)
c.2555A>T (p.Glu852Val)
c.887A>T (p.Glu296Val)
c.2501A>T (p.Glu834Val)
c.2579A>T (p.Glu860Val)
c.2330A>T (p.Glu777Val)
c.2561A>T (p.Glu854Val)
c.1487A>T (p.Glu496Val)
n.2542A>T
1g.151406348T>CCA341949502POGZc.2735A>G (p.Glu912Gly)
c.2528A>G (p.Glu843Gly)
c.2687A>G (p.Glu896Gly)
c.2708A>G (p.Glu903Gly)
n.2835A>G
c.2402A>G (p.Glu801Gly)
c.2660A>G (p.Glu887Gly)
c.2555A>G (p.Glu852Gly)
c.887A>G (p.Glu296Gly)
c.2501A>G (p.Glu834Gly)
c.2579A>G (p.Glu860Gly)
c.2330A>G (p.Glu777Gly)
c.2561A>G (p.Glu854Gly)
c.1487A>G (p.Glu496Gly)
n.2542A>G
1g.151406348T>GCA341949504POGZc.2735A>C (p.Glu912Ala)
c.2528A>C (p.Glu843Ala)
c.2687A>C (p.Glu896Ala)
c.2708A>C (p.Glu903Ala)
n.2835A>C
c.2402A>C (p.Glu801Ala)
c.2660A>C (p.Glu887Ala)
c.2555A>C (p.Glu852Ala)
c.887A>C (p.Glu296Ala)
c.2501A>C (p.Glu834Ala)
c.2579A>C (p.Glu860Ala)
c.2330A>C (p.Glu777Ala)
c.2561A>C (p.Glu854Ala)
c.1487A>C (p.Glu496Ala)
n.2542A>C
1g.151406349C>ACA341949510POGZc.2734G>T (p.Glu912Ter)
c.2527G>T (p.Glu843Ter)
c.2686G>T (p.Glu896Ter)
c.2707G>T (p.Glu903Ter)
n.2834G>T
c.2401G>T (p.Glu801Ter)
c.2659G>T (p.Glu887Ter)
c.2554G>T (p.Glu852Ter)
c.886G>T (p.Glu296Ter)
c.2500G>T (p.Glu834Ter)
c.2578G>T (p.Glu860Ter)
c.2329G>T (p.Glu777Ter)
c.2560G>T (p.Glu854Ter)
c.1486G>T (p.Glu496Ter)
n.2541G>T
1g.151406349C=CA2479570621POGZc.2734G= (p.Glu912=)
c.2527G= (p.Glu843=)
c.2686G= (p.Glu896=)
c.2707G= (p.Glu903=)
n.2834G=
c.2401G= (p.Glu801=)
c.2659G= (p.Glu887=)
c.2554G= (p.Glu852=)
c.886G= (p.Glu296=)
c.2500G= (p.Glu834=)
c.2578G= (p.Glu860=)
c.2329G= (p.Glu777=)
c.2560G= (p.Glu854=)
c.1486G= (p.Glu496=)
n.2541G=
1g.151406349C>GCA341949508POGZc.2734G>C (p.Glu912Gln)
c.2527G>C (p.Glu843Gln)
c.2686G>C (p.Glu896Gln)
c.2707G>C (p.Glu903Gln)
n.2834G>C
c.2401G>C (p.Glu801Gln)
c.2659G>C (p.Glu887Gln)
c.2554G>C (p.Glu852Gln)
c.886G>C (p.Glu296Gln)
c.2500G>C (p.Glu834Gln)
c.2578G>C (p.Glu860Gln)
c.2329G>C (p.Glu777Gln)
c.2560G>C (p.Glu854Gln)
c.1486G>C (p.Glu496Gln)
n.2541G>C
 dbSNP
1g.151406349C>TCA341949507POGZc.2734G>A (p.Glu912Lys)
c.2527G>A (p.Glu843Lys)
c.2686G>A (p.Glu896Lys)
c.2707G>A (p.Glu903Lys)
n.2834G>A
c.2401G>A (p.Glu801Lys)
c.2659G>A (p.Glu887Lys)
c.2554G>A (p.Glu852Lys)
c.886G>A (p.Glu296Lys)
c.2500G>A (p.Glu834Lys)
c.2578G>A (p.Glu860Lys)
c.2329G>A (p.Glu777Lys)
c.2560G>A (p.Glu854Lys)
c.1486G>A (p.Glu496Lys)
n.2541G>A
 dbSNP
1g.151406350A>CCA420909652POGZc.2733T>G (p.Ala911=)
c.2526T>G (p.Ala842=)
c.2685T>G (p.Ala895=)
c.2706T>G (p.Ala902=)
n.2833T>G
c.2400T>G (p.Ala800=)
c.2658T>G (p.Ala886=)
c.2553T>G (p.Ala851=)
c.885T>G (p.Ala295=)
c.2499T>G (p.Ala833=)
c.2577T>G (p.Ala859=)
c.2328T>G (p.Ala776=)
c.2559T>G (p.Ala853=)
c.1485T>G (p.Ala495=)
n.2540T>G
1g.151406350A>GCA420909653POGZc.2733T>C (p.Ala911=)
c.2526T>C (p.Ala842=)
c.2685T>C (p.Ala895=)
c.2706T>C (p.Ala902=)
n.2833T>C
c.2400T>C (p.Ala800=)
c.2658T>C (p.Ala886=)
c.2553T>C (p.Ala851=)
c.885T>C (p.Ala295=)
c.2499T>C (p.Ala833=)
c.2577T>C (p.Ala859=)
c.2328T>C (p.Ala776=)
c.2559T>C (p.Ala853=)
c.1485T>C (p.Ala495=)
n.2540T>C
1g.151406350A>TCA420909655POGZc.2733T>A (p.Ala911=)
c.2526T>A (p.Ala842=)
c.2685T>A (p.Ala895=)
c.2706T>A (p.Ala902=)
n.2833T>A
c.2400T>A (p.Ala800=)
c.2658T>A (p.Ala886=)
c.2553T>A (p.Ala851=)
c.885T>A (p.Ala295=)
c.2499T>A (p.Ala833=)
c.2577T>A (p.Ala859=)
c.2328T>A (p.Ala776=)
c.2559T>A (p.Ala853=)
c.1485T>A (p.Ala495=)
n.2540T>A
1g.151406351G>ACA341949514POGZc.2732C>T (p.Ala911Val)
c.2525C>T (p.Ala842Val)
c.2684C>T (p.Ala895Val)
c.2705C>T (p.Ala902Val)
n.2832C>T
c.2399C>T (p.Ala800Val)
c.2657C>T (p.Ala886Val)
c.2552C>T (p.Ala851Val)
c.884C>T (p.Ala295Val)
c.2498C>T (p.Ala833Val)
c.2576C>T (p.Ala859Val)
c.2327C>T (p.Ala776Val)
c.2558C>T (p.Ala853Val)
c.1484C>T (p.Ala495Val)
n.2539C>T
1g.151406351G>CCA341949518POGZc.2732C>G (p.Ala911Gly)
c.2525C>G (p.Ala842Gly)
c.2684C>G (p.Ala895Gly)
c.2705C>G (p.Ala902Gly)
n.2832C>G
c.2399C>G (p.Ala800Gly)
c.2657C>G (p.Ala886Gly)
c.2552C>G (p.Ala851Gly)
c.884C>G (p.Ala295Gly)
c.2498C>G (p.Ala833Gly)
c.2576C>G (p.Ala859Gly)
c.2327C>G (p.Ala776Gly)
c.2558C>G (p.Ala853Gly)
c.1484C>G (p.Ala495Gly)
n.2539C>G
1g.151406351G>TCA341949521POGZc.2732C>A (p.Ala911Asp)
c.2525C>A (p.Ala842Asp)
c.2684C>A (p.Ala895Asp)
c.2705C>A (p.Ala902Asp)
n.2832C>A
c.2399C>A (p.Ala800Asp)
c.2657C>A (p.Ala886Asp)
c.2552C>A (p.Ala851Asp)
c.884C>A (p.Ala295Asp)
c.2498C>A (p.Ala833Asp)
c.2576C>A (p.Ala859Asp)
c.2327C>A (p.Ala776Asp)
c.2558C>A (p.Ala853Asp)
c.1484C>A (p.Ala495Asp)
n.2539C>A
1g.151406352C>ACA341949525POGZc.2731G>T (p.Ala911Ser)
c.2524G>T (p.Ala842Ser)
c.2683G>T (p.Ala895Ser)
c.2704G>T (p.Ala902Ser)
n.2831G>T
c.2398G>T (p.Ala800Ser)
c.2656G>T (p.Ala886Ser)
c.2551G>T (p.Ala851Ser)
c.883G>T (p.Ala295Ser)
c.2497G>T (p.Ala833Ser)
c.2575G>T (p.Ala859Ser)
c.2326G>T (p.Ala776Ser)
c.2557G>T (p.Ala853Ser)
c.1483G>T (p.Ala495Ser)
n.2538G>T
 gnomAD v4
1g.151406352C=CA2479570622POGZc.2731G= (p.Ala911=)
c.2524G= (p.Ala842=)
c.2683G= (p.Ala895=)
c.2704G= (p.Ala902=)
n.2831G=
c.2398G= (p.Ala800=)
c.2656G= (p.Ala886=)
c.2551G= (p.Ala851=)
c.883G= (p.Ala295=)
c.2497G= (p.Ala833=)
c.2575G= (p.Ala859=)
c.2326G= (p.Ala776=)
c.2557G= (p.Ala853=)
c.1483G= (p.Ala495=)
n.2538G=
1g.151406352C>GCA341949529POGZc.2731G>C (p.Ala911Pro)
c.2524G>C (p.Ala842Pro)
c.2683G>C (p.Ala895Pro)
c.2704G>C (p.Ala902Pro)
n.2831G>C
c.2398G>C (p.Ala800Pro)
c.2656G>C (p.Ala886Pro)
c.2551G>C (p.Ala851Pro)
c.883G>C (p.Ala295Pro)
c.2497G>C (p.Ala833Pro)
c.2575G>C (p.Ala859Pro)
c.2326G>C (p.Ala776Pro)
c.2557G>C (p.Ala853Pro)
c.1483G>C (p.Ala495Pro)
n.2538G>C
 dbSNP gnomAD v3 gnomAD v4
1g.151406352C>TCA341949531POGZc.2731G>A (p.Ala911Thr)
c.2524G>A (p.Ala842Thr)
c.2683G>A (p.Ala895Thr)
c.2704G>A (p.Ala902Thr)
n.2831G>A
c.2398G>A (p.Ala800Thr)
c.2656G>A (p.Ala886Thr)
c.2551G>A (p.Ala851Thr)
c.883G>A (p.Ala295Thr)
c.2497G>A (p.Ala833Thr)
c.2575G>A (p.Ala859Thr)
c.2326G>A (p.Ala776Thr)
c.2557G>A (p.Ala853Thr)
c.1483G>A (p.Ala495Thr)
n.2538G>A
 gnomAD v4
1g.151406353T>ACA420909661POGZc.2730A>T (p.Pro910=)
c.2523A>T (p.Pro841=)
c.2682A>T (p.Pro894=)
c.2703A>T (p.Pro901=)
n.2830A>T
c.2397A>T (p.Pro799=)
c.2655A>T (p.Pro885=)
c.2550A>T (p.Pro850=)
c.882A>T (p.Pro294=)
c.2496A>T (p.Pro832=)
c.2574A>T (p.Pro858=)
c.2325A>T (p.Pro775=)
c.2556A>T (p.Pro852=)
c.1482A>T (p.Pro494=)
n.2537A>T
1g.151406353T>CCA420909660POGZc.2730A>G (p.Pro910=)
c.2523A>G (p.Pro841=)
c.2682A>G (p.Pro894=)
c.2703A>G (p.Pro901=)
n.2830A>G
c.2397A>G (p.Pro799=)
c.2655A>G (p.Pro885=)
c.2550A>G (p.Pro850=)
c.882A>G (p.Pro294=)
c.2496A>G (p.Pro832=)
c.2574A>G (p.Pro858=)
c.2325A>G (p.Pro775=)
c.2556A>G (p.Pro852=)
c.1482A>G (p.Pro494=)
n.2537A>G
 dbSNP gnomAD v2
1g.151406353T>GCA420909658POGZc.2730A>C (p.Pro910=)
c.2523A>C (p.Pro841=)
c.2682A>C (p.Pro894=)
c.2703A>C (p.Pro901=)
n.2830A>C
c.2397A>C (p.Pro799=)
c.2655A>C (p.Pro885=)
c.2550A>C (p.Pro850=)
c.882A>C (p.Pro294=)
c.2496A>C (p.Pro832=)
c.2574A>C (p.Pro858=)
c.2325A>C (p.Pro775=)
c.2556A>C (p.Pro852=)
c.1482A>C (p.Pro494=)
n.2537A>C
1g.151406353T=CA2479570623POGZc.2730A= (p.Pro910=)
c.2523A= (p.Pro841=)
c.2682A= (p.Pro894=)
c.2703A= (p.Pro901=)
n.2830A=
c.2397A= (p.Pro799=)
c.2655A= (p.Pro885=)
c.2550A= (p.Pro850=)
c.882A= (p.Pro294=)
c.2496A= (p.Pro832=)
c.2574A= (p.Pro858=)
c.2325A= (p.Pro775=)
c.2556A= (p.Pro852=)
c.1482A= (p.Pro494=)
n.2537A=
1g.151406354G>ACA341949534POGZc.2729C>T (p.Pro910Leu)
c.2522C>T (p.Pro841Leu)
c.2681C>T (p.Pro894Leu)
c.2702C>T (p.Pro901Leu)
n.2829C>T
c.2396C>T (p.Pro799Leu)
c.2654C>T (p.Pro885Leu)
c.2549C>T (p.Pro850Leu)
c.881C>T (p.Pro294Leu)
c.2495C>T (p.Pro832Leu)
c.2573C>T (p.Pro858Leu)
c.2324C>T (p.Pro775Leu)
c.2555C>T (p.Pro852Leu)
c.1481C>T (p.Pro494Leu)
n.2536C>T
 dbSNP gnomAD v4
1g.151406354G>CCA341949537POGZc.2729C>G (p.Pro910Arg)
c.2522C>G (p.Pro841Arg)
c.2681C>G (p.Pro894Arg)
c.2702C>G (p.Pro901Arg)
n.2829C>G
c.2396C>G (p.Pro799Arg)
c.2654C>G (p.Pro885Arg)
c.2549C>G (p.Pro850Arg)
c.881C>G (p.Pro294Arg)
c.2495C>G (p.Pro832Arg)
c.2573C>G (p.Pro858Arg)
c.2324C>G (p.Pro775Arg)
c.2555C>G (p.Pro852Arg)
c.1481C>G (p.Pro494Arg)
n.2536C>G
1g.151406354G=CA2479570624POGZc.2729C= (p.Pro910=)
c.2522C= (p.Pro841=)
c.2681C= (p.Pro894=)
c.2702C= (p.Pro901=)
n.2829C=
c.2396C= (p.Pro799=)
c.2654C= (p.Pro885=)
c.2549C= (p.Pro850=)
c.881C= (p.Pro294=)
c.2495C= (p.Pro832=)
c.2573C= (p.Pro858=)
c.2324C= (p.Pro775=)
c.2555C= (p.Pro852=)
c.1481C= (p.Pro494=)
n.2536C=
1g.151406354G>TCA341949540POGZc.2729C>A (p.Pro910Gln)
c.2522C>A (p.Pro841Gln)
c.2681C>A (p.Pro894Gln)
c.2702C>A (p.Pro901Gln)
n.2829C>A
c.2396C>A (p.Pro799Gln)
c.2654C>A (p.Pro885Gln)
c.2549C>A (p.Pro850Gln)
c.881C>A (p.Pro294Gln)
c.2495C>A (p.Pro832Gln)
c.2573C>A (p.Pro858Gln)
c.2324C>A (p.Pro775Gln)
c.2555C>A (p.Pro852Gln)
c.1481C>A (p.Pro494Gln)
n.2536C>A
1g.151406357delCA2647920376POGZc.2729del (p.Pro910GlnfsTer8)
c.2522del (p.Pro841GlnfsTer8)
c.2681del (p.Pro894GlnfsTer8)
c.2702del (p.Pro901GlnfsTer8)
n.2829del
c.2396del (p.Pro799GlnfsTer8)
c.2654del (p.Pro885GlnfsTer8)
c.2549del (p.Pro850GlnfsTer8)
c.881del (p.Pro294GlnfsTer8)
c.2495del (p.Pro832GlnfsTer8)
c.2573del (p.Pro858GlnfsTer8)
c.2324del (p.Pro775GlnfsTer8)
c.2555del (p.Pro852GlnfsTer8)
c.1481del (p.Pro494GlnfsTer8)
n.2536del
 gnomAD v4
1g.151406355G>ACA341949542POGZc.2728C>T (p.Pro910Ser)
c.2521C>T (p.Pro841Ser)
c.2680C>T (p.Pro894Ser)
c.2701C>T (p.Pro901Ser)
n.2828C>T
c.2395C>T (p.Pro799Ser)
c.2653C>T (p.Pro885Ser)
c.2548C>T (p.Pro850Ser)
c.880C>T (p.Pro294Ser)
c.2494C>T (p.Pro832Ser)
c.2572C>T (p.Pro858Ser)
c.2323C>T (p.Pro775Ser)
c.2554C>T (p.Pro852Ser)
c.1480C>T (p.Pro494Ser)
n.2535C>T
1g.151406355G>CCA341949544POGZc.2728C>G (p.Pro910Ala)
c.2521C>G (p.Pro841Ala)
c.2680C>G (p.Pro894Ala)
c.2701C>G (p.Pro901Ala)
n.2828C>G
c.2395C>G (p.Pro799Ala)
c.2653C>G (p.Pro885Ala)
c.2548C>G (p.Pro850Ala)
c.880C>G (p.Pro294Ala)
c.2494C>G (p.Pro832Ala)
c.2572C>G (p.Pro858Ala)
c.2323C>G (p.Pro775Ala)
c.2554C>G (p.Pro852Ala)
c.1480C>G (p.Pro494Ala)
n.2535C>G
1g.151406355G>TCA341949546POGZc.2728C>A (p.Pro910Thr)
c.2521C>A (p.Pro841Thr)
c.2680C>A (p.Pro894Thr)
c.2701C>A (p.Pro901Thr)
n.2828C>A
c.2395C>A (p.Pro799Thr)
c.2653C>A (p.Pro885Thr)
c.2548C>A (p.Pro850Thr)
c.880C>A (p.Pro294Thr)
c.2494C>A (p.Pro832Thr)
c.2572C>A (p.Pro858Thr)
c.2323C>A (p.Pro775Thr)
c.2554C>A (p.Pro852Thr)
c.1480C>A (p.Pro494Thr)
n.2535C>A
 gnomAD v4
1g.151406356G>ACA420909669POGZc.2727C>T (p.Thr909=)
c.2520C>T (p.Thr840=)
c.2679C>T (p.Thr893=)
c.2700C>T (p.Thr900=)
n.2827C>T
c.2394C>T (p.Thr798=)
c.2652C>T (p.Thr884=)
c.2547C>T (p.Thr849=)
c.879C>T (p.Thr293=)
c.2493C>T (p.Thr831=)
c.2571C>T (p.Thr857=)
c.2322C>T (p.Thr774=)
c.2553C>T (p.Thr851=)
c.1479C>T (p.Thr493=)
n.2534C>T
1g.151406356G>CCA420909670POGZc.2727C>G (p.Thr909=)
c.2520C>G (p.Thr840=)
c.2679C>G (p.Thr893=)
c.2700C>G (p.Thr900=)
n.2827C>G
c.2394C>G (p.Thr798=)
c.2652C>G (p.Thr884=)
c.2547C>G (p.Thr849=)
c.879C>G (p.Thr293=)
c.2493C>G (p.Thr831=)
c.2571C>G (p.Thr857=)
c.2322C>G (p.Thr774=)
c.2553C>G (p.Thr851=)
c.1479C>G (p.Thr493=)
n.2534C>G
 dbSNP gnomAD v4
1g.151406356G=CA2479570625POGZc.2727C= (p.Thr909=)
c.2520C= (p.Thr840=)
c.2679C= (p.Thr893=)
c.2700C= (p.Thr900=)
n.2827C=
c.2394C= (p.Thr798=)
c.2652C= (p.Thr884=)
c.2547C= (p.Thr849=)
c.879C= (p.Thr293=)
c.2493C= (p.Thr831=)
c.2571C= (p.Thr857=)
c.2322C= (p.Thr774=)
c.2553C= (p.Thr851=)
c.1479C= (p.Thr493=)
n.2534C=
1g.151406356G>TCA420909671POGZc.2727C>A (p.Thr909=)
c.2520C>A (p.Thr840=)
c.2679C>A (p.Thr893=)
c.2700C>A (p.Thr900=)
n.2827C>A
c.2394C>A (p.Thr798=)
c.2652C>A (p.Thr884=)
c.2547C>A (p.Thr849=)
c.879C>A (p.Thr293=)
c.2493C>A (p.Thr831=)
c.2571C>A (p.Thr857=)
c.2322C>A (p.Thr774=)
c.2553C>A (p.Thr851=)
c.1479C>A (p.Thr493=)
n.2534C>A
1g.151406357G>ACA1091081POGZc.2726C>T (p.Thr909Ile)
c.2519C>T (p.Thr840Ile)
c.2678C>T (p.Thr893Ile)
c.2699C>T (p.Thr900Ile)
n.2826C>T
c.2393C>T (p.Thr798Ile)
c.2651C>T (p.Thr884Ile)
c.2546C>T (p.Thr849Ile)
c.878C>T (p.Thr293Ile)
c.2492C>T (p.Thr831Ile)
c.2570C>T (p.Thr857Ile)
c.2321C>T (p.Thr774Ile)
c.2552C>T (p.Thr851Ile)
c.1478C>T (p.Thr493Ile)
n.2533C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406357G>CCA341949566POGZc.2726C>G (p.Thr909Ser)
c.2519C>G (p.Thr840Ser)
c.2678C>G (p.Thr893Ser)
c.2699C>G (p.Thr900Ser)
n.2826C>G
c.2393C>G (p.Thr798Ser)
c.2651C>G (p.Thr884Ser)
c.2546C>G (p.Thr849Ser)
c.878C>G (p.Thr293Ser)
c.2492C>G (p.Thr831Ser)
c.2570C>G (p.Thr857Ser)
c.2321C>G (p.Thr774Ser)
c.2552C>G (p.Thr851Ser)
c.1478C>G (p.Thr493Ser)
n.2533C>G
1g.151406357G=CA2479570626POGZc.2726C= (p.Thr909=)
c.2519C= (p.Thr840=)
c.2678C= (p.Thr893=)
c.2699C= (p.Thr900=)
n.2826C=
c.2393C= (p.Thr798=)
c.2651C= (p.Thr884=)
c.2546C= (p.Thr849=)
c.878C= (p.Thr293=)
c.2492C= (p.Thr831=)
c.2570C= (p.Thr857=)
c.2321C= (p.Thr774=)
c.2552C= (p.Thr851=)
c.1478C= (p.Thr493=)
n.2533C=
1g.151406357G>TCA341949548POGZc.2726C>A (p.Thr909Asn)
c.2519C>A (p.Thr840Asn)
c.2678C>A (p.Thr893Asn)
c.2699C>A (p.Thr900Asn)
n.2826C>A
c.2393C>A (p.Thr798Asn)
c.2651C>A (p.Thr884Asn)
c.2546C>A (p.Thr849Asn)
c.878C>A (p.Thr293Asn)
c.2492C>A (p.Thr831Asn)
c.2570C>A (p.Thr857Asn)
c.2321C>A (p.Thr774Asn)
c.2552C>A (p.Thr851Asn)
c.1478C>A (p.Thr493Asn)
n.2533C>A
1g.151406358T>ACA341949574POGZc.2725A>T (p.Thr909Ser)
c.2518A>T (p.Thr840Ser)
c.2677A>T (p.Thr893Ser)
c.2698A>T (p.Thr900Ser)
n.2825A>T
c.2392A>T (p.Thr798Ser)
c.2650A>T (p.Thr884Ser)
c.2545A>T (p.Thr849Ser)
c.877A>T (p.Thr293Ser)
c.2491A>T (p.Thr831Ser)
c.2569A>T (p.Thr857Ser)
c.2320A>T (p.Thr774Ser)
c.2551A>T (p.Thr851Ser)
c.1477A>T (p.Thr493Ser)
n.2532A>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406358T>CCA1091082POGZc.2725A>G (p.Thr909Ala)
c.2518A>G (p.Thr840Ala)
c.2677A>G (p.Thr893Ala)
c.2698A>G (p.Thr900Ala)
n.2825A>G
c.2392A>G (p.Thr798Ala)
c.2650A>G (p.Thr884Ala)
c.2545A>G (p.Thr849Ala)
c.877A>G (p.Thr293Ala)
c.2491A>G (p.Thr831Ala)
c.2569A>G (p.Thr857Ala)
c.2320A>G (p.Thr774Ala)
c.2551A>G (p.Thr851Ala)
c.1477A>G (p.Thr493Ala)
n.2532A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406358T>GCA341949571POGZc.2725A>C (p.Thr909Pro)
c.2518A>C (p.Thr840Pro)
c.2677A>C (p.Thr893Pro)
c.2698A>C (p.Thr900Pro)
n.2825A>C
c.2392A>C (p.Thr798Pro)
c.2650A>C (p.Thr884Pro)
c.2545A>C (p.Thr849Pro)
c.877A>C (p.Thr293Pro)
c.2491A>C (p.Thr831Pro)
c.2569A>C (p.Thr857Pro)
c.2320A>C (p.Thr774Pro)
c.2551A>C (p.Thr851Pro)
c.1477A>C (p.Thr493Pro)
n.2532A>C
 dbSNP
1g.151406358T=CA2479570627POGZc.2725A= (p.Thr909=)
c.2518A= (p.Thr840=)
c.2677A= (p.Thr893=)
c.2698A= (p.Thr900=)
n.2825A=
c.2392A= (p.Thr798=)
c.2650A= (p.Thr884=)
c.2545A= (p.Thr849=)
c.877A= (p.Thr293=)
c.2491A= (p.Thr831=)
c.2569A= (p.Thr857=)
c.2320A= (p.Thr774=)
c.2551A= (p.Thr851=)
c.1477A= (p.Thr493=)
n.2532A=
1g.151406359G>ACA420909674POGZc.2724C>T (p.Ala908=)
c.2517C>T (p.Ala839=)
c.2676C>T (p.Ala892=)
c.2697C>T (p.Ala899=)
n.2824C>T
c.2391C>T (p.Ala797=)
c.2649C>T (p.Ala883=)
c.2544C>T (p.Ala848=)
c.876C>T (p.Ala292=)
c.2490C>T (p.Ala830=)
c.2568C>T (p.Ala856=)
c.2319C>T (p.Ala773=)
c.2550C>T (p.Ala850=)
c.1476C>T (p.Ala492=)
n.2531C>T
1g.151406359G>CCA420909676POGZc.2724C>G (p.Ala908=)
c.2517C>G (p.Ala839=)
c.2676C>G (p.Ala892=)
c.2697C>G (p.Ala899=)
n.2824C>G
c.2391C>G (p.Ala797=)
c.2649C>G (p.Ala883=)
c.2544C>G (p.Ala848=)
c.876C>G (p.Ala292=)
c.2490C>G (p.Ala830=)
c.2568C>G (p.Ala856=)
c.2319C>G (p.Ala773=)
c.2550C>G (p.Ala850=)
c.1476C>G (p.Ala492=)
n.2531C>G
1g.151406359G>TCA420909682POGZc.2724C>A (p.Ala908=)
c.2517C>A (p.Ala839=)
c.2676C>A (p.Ala892=)
c.2697C>A (p.Ala899=)
n.2824C>A
c.2391C>A (p.Ala797=)
c.2649C>A (p.Ala883=)
c.2544C>A (p.Ala848=)
c.876C>A (p.Ala292=)
c.2490C>A (p.Ala830=)
c.2568C>A (p.Ala856=)
c.2319C>A (p.Ala773=)
c.2550C>A (p.Ala850=)
c.1476C>A (p.Ala492=)
n.2531C>A
 gnomAD v4
1g.151406360G>ACA341949576POGZc.2723C>T (p.Ala908Val)
c.2516C>T (p.Ala839Val)
c.2675C>T (p.Ala892Val)
c.2696C>T (p.Ala899Val)
n.2823C>T
c.2390C>T (p.Ala797Val)
c.2648C>T (p.Ala883Val)
c.2543C>T (p.Ala848Val)
c.875C>T (p.Ala292Val)
c.2489C>T (p.Ala830Val)
c.2567C>T (p.Ala856Val)
c.2318C>T (p.Ala773Val)
c.2549C>T (p.Ala850Val)
c.1475C>T (p.Ala492Val)
n.2530C>T
 dbSNP gnomAD v4 COSMIC
1g.151406360G>CCA341949579POGZc.2723C>G (p.Ala908Gly)
c.2516C>G (p.Ala839Gly)
c.2675C>G (p.Ala892Gly)
c.2696C>G (p.Ala899Gly)
n.2823C>G
c.2390C>G (p.Ala797Gly)
c.2648C>G (p.Ala883Gly)
c.2543C>G (p.Ala848Gly)
c.875C>G (p.Ala292Gly)
c.2489C>G (p.Ala830Gly)
c.2567C>G (p.Ala856Gly)
c.2318C>G (p.Ala773Gly)
c.2549C>G (p.Ala850Gly)
c.1475C>G (p.Ala492Gly)
n.2530C>G
 gnomAD v4
1g.151406360G=CA2479570628POGZc.2723C= (p.Ala908=)
c.2516C= (p.Ala839=)
c.2675C= (p.Ala892=)
c.2696C= (p.Ala899=)
n.2823C=
c.2390C= (p.Ala797=)
c.2648C= (p.Ala883=)
c.2543C= (p.Ala848=)
c.875C= (p.Ala292=)
c.2489C= (p.Ala830=)
c.2567C= (p.Ala856=)
c.2318C= (p.Ala773=)
c.2549C= (p.Ala850=)
c.1475C= (p.Ala492=)
n.2530C=
1g.151406360G>TCA341949580POGZc.2723C>A (p.Ala908Asp)
c.2516C>A (p.Ala839Asp)
c.2675C>A (p.Ala892Asp)
c.2696C>A (p.Ala899Asp)
n.2823C>A
c.2390C>A (p.Ala797Asp)
c.2648C>A (p.Ala883Asp)
c.2543C>A (p.Ala848Asp)
c.875C>A (p.Ala292Asp)
c.2489C>A (p.Ala830Asp)
c.2567C>A (p.Ala856Asp)
c.2318C>A (p.Ala773Asp)
c.2549C>A (p.Ala850Asp)
c.1475C>A (p.Ala492Asp)
n.2530C>A
 gnomAD v4
1g.151406361C>ACA341949583POGZc.2722G>T (p.Ala908Ser)
c.2515G>T (p.Ala839Ser)
c.2674G>T (p.Ala892Ser)
c.2695G>T (p.Ala899Ser)
n.2822G>T
c.2389G>T (p.Ala797Ser)
c.2647G>T (p.Ala883Ser)
c.2542G>T (p.Ala848Ser)
c.874G>T (p.Ala292Ser)
c.2488G>T (p.Ala830Ser)
c.2566G>T (p.Ala856Ser)
c.2317G>T (p.Ala773Ser)
c.2548G>T (p.Ala850Ser)
c.1474G>T (p.Ala492Ser)
n.2529G>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406361C=CA2479570629POGZc.2722G= (p.Ala908=)
c.2515G= (p.Ala839=)
c.2674G= (p.Ala892=)
c.2695G= (p.Ala899=)
n.2822G=
c.2389G= (p.Ala797=)
c.2647G= (p.Ala883=)
c.2542G= (p.Ala848=)
c.874G= (p.Ala292=)
c.2488G= (p.Ala830=)
c.2566G= (p.Ala856=)
c.2317G= (p.Ala773=)
c.2548G= (p.Ala850=)
c.1474G= (p.Ala492=)
n.2529G=
1g.151406361C>GCA341949585POGZc.2722G>C (p.Ala908Pro)
c.2515G>C (p.Ala839Pro)
c.2674G>C (p.Ala892Pro)
c.2695G>C (p.Ala899Pro)
n.2822G>C
c.2389G>C (p.Ala797Pro)
c.2647G>C (p.Ala883Pro)
c.2542G>C (p.Ala848Pro)
c.874G>C (p.Ala292Pro)
c.2488G>C (p.Ala830Pro)
c.2566G>C (p.Ala856Pro)
c.2317G>C (p.Ala773Pro)
c.2548G>C (p.Ala850Pro)
c.1474G>C (p.Ala492Pro)
n.2529G>C
 dbSNP gnomAD v4
1g.151406361C>TCA341949587POGZc.2722G>A (p.Ala908Thr)
c.2515G>A (p.Ala839Thr)
c.2674G>A (p.Ala892Thr)
c.2695G>A (p.Ala899Thr)
n.2822G>A
c.2389G>A (p.Ala797Thr)
c.2647G>A (p.Ala883Thr)
c.2542G>A (p.Ala848Thr)
c.874G>A (p.Ala292Thr)
c.2488G>A (p.Ala830Thr)
c.2566G>A (p.Ala856Thr)
c.2317G>A (p.Ala773Thr)
c.2548G>A (p.Ala850Thr)
c.1474G>A (p.Ala492Thr)
n.2529G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.151406365dupCA2739292034POGZc.2722dup (p.Ala908GlyfsTer5)
c.2515dup (p.Ala839GlyfsTer5)
c.2674dup (p.Ala892GlyfsTer5)
c.2695dup (p.Ala899GlyfsTer5)
n.2822dup
c.2389dup (p.Ala797GlyfsTer5)
c.2647dup (p.Ala883GlyfsTer5)
c.2542dup (p.Ala848GlyfsTer5)
c.874dup (p.Ala292GlyfsTer5)
c.2488dup (p.Ala830GlyfsTer5)
c.2566dup (p.Ala856GlyfsTer5)
c.2317dup (p.Ala773GlyfsTer5)
c.2548dup (p.Ala850GlyfsTer5)
c.1474dup (p.Ala492GlyfsTer5)
n.2529dup
1g.151406365delCA2647920377POGZc.2722del (p.Ala908ProfsTer10)
c.2515del (p.Ala839ProfsTer10)
c.2674del (p.Ala892ProfsTer10)
c.2695del (p.Ala899ProfsTer10)
n.2822del
c.2389del (p.Ala797ProfsTer10)
c.2647del (p.Ala883ProfsTer10)
c.2542del (p.Ala848ProfsTer10)
c.874del (p.Ala292ProfsTer10)
c.2488del (p.Ala830ProfsTer10)
c.2566del (p.Ala856ProfsTer10)
c.2317del (p.Ala773ProfsTer10)
c.2548del (p.Ala850ProfsTer10)
c.1474del (p.Ala492ProfsTer10)
n.2529del
 gnomAD v4
1g.151406362C>ACA420909687POGZc.2721G>T (p.Gly907=)
c.2514G>T (p.Gly838=)
c.2673G>T (p.Gly891=)
c.2694G>T (p.Gly898=)
n.2821G>T
c.2388G>T (p.Gly796=)
c.2646G>T (p.Gly882=)
c.2541G>T (p.Gly847=)
c.873G>T (p.Gly291=)
c.2487G>T (p.Gly829=)
c.2565G>T (p.Gly855=)
c.2316G>T (p.Gly772=)
c.2547G>T (p.Gly849=)
c.1473G>T (p.Gly491=)
n.2528G>T
 gnomAD v4
1g.151406362C=CA2479570630POGZc.2721G= (p.Gly907=)
c.2514G= (p.Gly838=)
c.2673G= (p.Gly891=)
c.2694G= (p.Gly898=)
n.2821G=
c.2388G= (p.Gly796=)
c.2646G= (p.Gly882=)
c.2541G= (p.Gly847=)
c.873G= (p.Gly291=)
c.2487G= (p.Gly829=)
c.2565G= (p.Gly855=)
c.2316G= (p.Gly772=)
c.2547G= (p.Gly849=)
c.1473G= (p.Gly491=)
n.2528G=
1g.151406362C>GCA420909689POGZc.2721G>C (p.Gly907=)
c.2514G>C (p.Gly838=)
c.2673G>C (p.Gly891=)
c.2694G>C (p.Gly898=)
n.2821G>C
c.2388G>C (p.Gly796=)
c.2646G>C (p.Gly882=)
c.2541G>C (p.Gly847=)
c.873G>C (p.Gly291=)
c.2487G>C (p.Gly829=)
c.2565G>C (p.Gly855=)
c.2316G>C (p.Gly772=)
c.2547G>C (p.Gly849=)
c.1473G>C (p.Gly491=)
n.2528G>C
1g.151406362C>TCA420909690POGZc.2721G>A (p.Gly907=)
c.2514G>A (p.Gly838=)
c.2673G>A (p.Gly891=)
c.2694G>A (p.Gly898=)
n.2821G>A
c.2388G>A (p.Gly796=)
c.2646G>A (p.Gly882=)
c.2541G>A (p.Gly847=)
c.873G>A (p.Gly291=)
c.2487G>A (p.Gly829=)
c.2565G>A (p.Gly855=)
c.2316G>A (p.Gly772=)
c.2547G>A (p.Gly849=)
c.1473G>A (p.Gly491=)
n.2528G>A
 dbSNP gnomAD v3 gnomAD v4
1g.151406363C>ACA341949589POGZc.2720G>T (p.Gly907Val)
c.2513G>T (p.Gly838Val)
c.2672G>T (p.Gly891Val)
c.2693G>T (p.Gly898Val)
n.2820G>T
c.2387G>T (p.Gly796Val)
c.2645G>T (p.Gly882Val)
c.2540G>T (p.Gly847Val)
c.872G>T (p.Gly291Val)
c.2486G>T (p.Gly829Val)
c.2564G>T (p.Gly855Val)
c.2315G>T (p.Gly772Val)
c.2546G>T (p.Gly849Val)
c.1472G>T (p.Gly491Val)
n.2527G>T
1g.151406363C=CA2479570631POGZc.2720G= (p.Gly907=)
c.2513G= (p.Gly838=)
c.2672G= (p.Gly891=)
c.2693G= (p.Gly898=)
n.2820G=
c.2387G= (p.Gly796=)
c.2645G= (p.Gly882=)
c.2540G= (p.Gly847=)
c.872G= (p.Gly291=)
c.2486G= (p.Gly829=)
c.2564G= (p.Gly855=)
c.2315G= (p.Gly772=)
c.2546G= (p.Gly849=)
c.1472G= (p.Gly491=)
n.2527G=
1g.151406363C>GCA341949590POGZc.2720G>C (p.Gly907Ala)
c.2513G>C (p.Gly838Ala)
c.2672G>C (p.Gly891Ala)
c.2693G>C (p.Gly898Ala)
n.2820G>C
c.2387G>C (p.Gly796Ala)
c.2645G>C (p.Gly882Ala)
c.2540G>C (p.Gly847Ala)
c.872G>C (p.Gly291Ala)
c.2486G>C (p.Gly829Ala)
c.2564G>C (p.Gly855Ala)
c.2315G>C (p.Gly772Ala)
c.2546G>C (p.Gly849Ala)
c.1472G>C (p.Gly491Ala)
n.2527G>C
1g.151406363C>TCA341949593POGZc.2720G>A (p.Gly907Glu)
c.2513G>A (p.Gly838Glu)
c.2672G>A (p.Gly891Glu)
c.2693G>A (p.Gly898Glu)
n.2820G>A
c.2387G>A (p.Gly796Glu)
c.2645G>A (p.Gly882Glu)
c.2540G>A (p.Gly847Glu)
c.872G>A (p.Gly291Glu)
c.2486G>A (p.Gly829Glu)
c.2564G>A (p.Gly855Glu)
c.2315G>A (p.Gly772Glu)
c.2546G>A (p.Gly849Glu)
c.1472G>A (p.Gly491Glu)
n.2527G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406364C>ACA341949599POGZc.2719G>T (p.Gly907Trp)
c.2512G>T (p.Gly838Trp)
c.2671G>T (p.Gly891Trp)
c.2692G>T (p.Gly898Trp)
n.2819G>T
c.2386G>T (p.Gly796Trp)
c.2644G>T (p.Gly882Trp)
c.2539G>T (p.Gly847Trp)
c.871G>T (p.Gly291Trp)
c.2485G>T (p.Gly829Trp)
c.2563G>T (p.Gly855Trp)
c.2314G>T (p.Gly772Trp)
c.2545G>T (p.Gly849Trp)
c.1471G>T (p.Gly491Trp)
n.2526G>T
1g.151406364C>GCA341949598POGZc.2719G>C (p.Gly907Arg)
c.2512G>C (p.Gly838Arg)
c.2671G>C (p.Gly891Arg)
c.2692G>C (p.Gly898Arg)
n.2819G>C
c.2386G>C (p.Gly796Arg)
c.2644G>C (p.Gly882Arg)
c.2539G>C (p.Gly847Arg)
c.871G>C (p.Gly291Arg)
c.2485G>C (p.Gly829Arg)
c.2563G>C (p.Gly855Arg)
c.2314G>C (p.Gly772Arg)
c.2545G>C (p.Gly849Arg)
c.1471G>C (p.Gly491Arg)
n.2526G>C
1g.151406364C>TCA341949596POGZc.2719G>A (p.Gly907Arg)
c.2512G>A (p.Gly838Arg)
c.2671G>A (p.Gly891Arg)
c.2692G>A (p.Gly898Arg)
n.2819G>A
c.2386G>A (p.Gly796Arg)
c.2644G>A (p.Gly882Arg)
c.2539G>A (p.Gly847Arg)
c.871G>A (p.Gly291Arg)
c.2485G>A (p.Gly829Arg)
c.2563G>A (p.Gly855Arg)
c.2314G>A (p.Gly772Arg)
c.2545G>A (p.Gly849Arg)
c.1471G>A (p.Gly491Arg)
n.2526G>A
 gnomAD v4
1g.151406365C>ACA420909698POGZc.2718G>T (p.Ala906=)
c.2511G>T (p.Ala837=)
c.2670G>T (p.Ala890=)
c.2691G>T (p.Ala897=)
n.2818G>T
c.2385G>T (p.Ala795=)
c.2643G>T (p.Ala881=)
c.2538G>T (p.Ala846=)
c.870G>T (p.Ala290=)
c.2484G>T (p.Ala828=)
c.2562G>T (p.Ala854=)
c.2313G>T (p.Ala771=)
c.2544G>T (p.Ala848=)
c.1470G>T (p.Ala490=)
n.2525G>T
 gnomAD v4
1g.151406365C=CA1141941340POGZc.2718G= (p.Ala906=)
c.2511G= (p.Ala837=)
c.2670G= (p.Ala890=)
c.2691G= (p.Ala897=)
n.2818G=
c.2385G= (p.Ala795=)
c.2643G= (p.Ala881=)
c.2538G= (p.Ala846=)
c.870G= (p.Ala290=)
c.2484G= (p.Ala828=)
c.2562G= (p.Ala854=)
c.2313G= (p.Ala771=)
c.2544G= (p.Ala848=)
c.1470G= (p.Ala490=)
n.2525G=
1g.151406365C>GCA420909699POGZc.2718G>C (p.Ala906=)
c.2511G>C (p.Ala837=)
c.2670G>C (p.Ala890=)
c.2691G>C (p.Ala897=)
n.2818G>C
c.2385G>C (p.Ala795=)
c.2643G>C (p.Ala881=)
c.2538G>C (p.Ala846=)
c.870G>C (p.Ala290=)
c.2484G>C (p.Ala828=)
c.2562G>C (p.Ala854=)
c.2313G>C (p.Ala771=)
c.2544G>C (p.Ala848=)
c.1470G>C (p.Ala490=)
n.2525G>C
1g.151406365C>TCA1091083POGZc.2718G>A (p.Ala906=)
c.2511G>A (p.Ala837=)
c.2670G>A (p.Ala890=)
c.2691G>A (p.Ala897=)
n.2818G>A
c.2385G>A (p.Ala795=)
c.2643G>A (p.Ala881=)
c.2538G>A (p.Ala846=)
c.870G>A (p.Ala290=)
c.2484G>A (p.Ala828=)
c.2562G>A (p.Ala854=)
c.2313G>A (p.Ala771=)
c.2544G>A (p.Ala848=)
c.1470G>A (p.Ala490=)
n.2525G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406366G>ACA1091084POGZc.2717C>T (p.Ala906Val)
c.2510C>T (p.Ala837Val)
c.2669C>T (p.Ala890Val)
c.2690C>T (p.Ala897Val)
n.2817C>T
c.2384C>T (p.Ala795Val)
c.2642C>T (p.Ala881Val)
c.2537C>T (p.Ala846Val)
c.869C>T (p.Ala290Val)
c.2483C>T (p.Ala828Val)
c.2561C>T (p.Ala854Val)
c.2312C>T (p.Ala771Val)
c.2543C>T (p.Ala848Val)
c.1469C>T (p.Ala490Val)
n.2524C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406366G>CCA341949605POGZc.2717C>G (p.Ala906Gly)
c.2510C>G (p.Ala837Gly)
c.2669C>G (p.Ala890Gly)
c.2690C>G (p.Ala897Gly)
n.2817C>G
c.2384C>G (p.Ala795Gly)
c.2642C>G (p.Ala881Gly)
c.2537C>G (p.Ala846Gly)
c.869C>G (p.Ala290Gly)
c.2483C>G (p.Ala828Gly)
c.2561C>G (p.Ala854Gly)
c.2312C>G (p.Ala771Gly)
c.2543C>G (p.Ala848Gly)
c.1469C>G (p.Ala490Gly)
n.2524C>G
1g.151406366G=CA1141793441POGZc.2717C= (p.Ala906=)
c.2510C= (p.Ala837=)
c.2669C= (p.Ala890=)
c.2690C= (p.Ala897=)
n.2817C=
c.2384C= (p.Ala795=)
c.2642C= (p.Ala881=)
c.2537C= (p.Ala846=)
c.869C= (p.Ala290=)
c.2483C= (p.Ala828=)
c.2561C= (p.Ala854=)
c.2312C= (p.Ala771=)
c.2543C= (p.Ala848=)
c.1469C= (p.Ala490=)
n.2524C=
1g.151406366G>TCA341949608POGZc.2717C>A (p.Ala906Glu)
c.2510C>A (p.Ala837Glu)
c.2669C>A (p.Ala890Glu)
c.2690C>A (p.Ala897Glu)
n.2817C>A
c.2384C>A (p.Ala795Glu)
c.2642C>A (p.Ala881Glu)
c.2537C>A (p.Ala846Glu)
c.869C>A (p.Ala290Glu)
c.2483C>A (p.Ala828Glu)
c.2561C>A (p.Ala854Glu)
c.2312C>A (p.Ala771Glu)
c.2543C>A (p.Ala848Glu)
c.1469C>A (p.Ala490Glu)
n.2524C>A

Number of alleles fetched