Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406200delCA915941412POGZc.2884del (p.Asp962MetfsTer12)
c.2677del (p.Asp893MetfsTer12)
c.2836del (p.Asp946MetfsTer12)
c.2857del (p.Asp953MetfsTer12)
n.2984del
c.2551del (p.Asp851MetfsTer12)
c.2809del (p.Asp937MetfsTer12)
c.2704del (p.Asp902MetfsTer12)
c.2650del (p.Asp884MetfsTer12)
c.2728del (p.Asp910MetfsTer12)
c.2479del (p.Asp827MetfsTer12)
c.2710del (p.Asp904MetfsTer12)
c.1636del (p.Asp546MetfsTer12)
n.2691del
 ClinVar dbSNP
1g.151406200C>ACA341948387POGZc.2883G>T (p.Gln961His)
c.2676G>T (p.Gln892His)
c.2835G>T (p.Gln945His)
c.2856G>T (p.Gln952His)
n.2983G>T
c.2550G>T (p.Gln850His)
c.2808G>T (p.Gln936His)
c.2703G>T (p.Gln901His)
c.2649G>T (p.Gln883His)
c.2727G>T (p.Gln909His)
c.2478G>T (p.Gln826His)
c.2709G>T (p.Gln903His)
c.1635G>T (p.Gln545His)
n.2690G>T
1g.151406200C=CA2479570552POGZc.2883G= (p.Gln961=)
c.2676G= (p.Gln892=)
c.2835G= (p.Gln945=)
c.2856G= (p.Gln952=)
n.2983G=
c.2550G= (p.Gln850=)
c.2808G= (p.Gln936=)
c.2703G= (p.Gln901=)
c.2649G= (p.Gln883=)
c.2727G= (p.Gln909=)
c.2478G= (p.Gln826=)
c.2709G= (p.Gln903=)
c.1635G= (p.Gln545=)
n.2690G=
1g.151406200C>GCA1091053POGZc.2883G>C (p.Gln961His)
c.2676G>C (p.Gln892His)
c.2835G>C (p.Gln945His)
c.2856G>C (p.Gln952His)
n.2983G>C
c.2550G>C (p.Gln850His)
c.2808G>C (p.Gln936His)
c.2703G>C (p.Gln901His)
c.2649G>C (p.Gln883His)
c.2727G>C (p.Gln909His)
c.2478G>C (p.Gln826His)
c.2709G>C (p.Gln903His)
c.1635G>C (p.Gln545His)
n.2690G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406200C>TCA420910070POGZc.2883G>A (p.Gln961=)
c.2676G>A (p.Gln892=)
c.2835G>A (p.Gln945=)
c.2856G>A (p.Gln952=)
n.2983G>A
c.2550G>A (p.Gln850=)
c.2808G>A (p.Gln936=)
c.2703G>A (p.Gln901=)
c.2649G>A (p.Gln883=)
c.2727G>A (p.Gln909=)
c.2478G>A (p.Gln826=)
c.2709G>A (p.Gln903=)
c.1635G>A (p.Gln545=)
n.2690G>A
 gnomAD v4
1g.151406201T>ACA341948393POGZc.2882A>T (p.Gln961Leu)
c.2675A>T (p.Gln892Leu)
c.2834A>T (p.Gln945Leu)
c.2855A>T (p.Gln952Leu)
n.2982A>T
c.2549A>T (p.Gln850Leu)
c.2807A>T (p.Gln936Leu)
c.2702A>T (p.Gln901Leu)
c.2648A>T (p.Gln883Leu)
c.2726A>T (p.Gln909Leu)
c.2477A>T (p.Gln826Leu)
c.2708A>T (p.Gln903Leu)
c.1634A>T (p.Gln545Leu)
n.2689A>T
1g.151406201T>CCA341948403POGZc.2882A>G (p.Gln961Arg)
c.2675A>G (p.Gln892Arg)
c.2834A>G (p.Gln945Arg)
c.2855A>G (p.Gln952Arg)
n.2982A>G
c.2549A>G (p.Gln850Arg)
c.2807A>G (p.Gln936Arg)
c.2702A>G (p.Gln901Arg)
c.2648A>G (p.Gln883Arg)
c.2726A>G (p.Gln909Arg)
c.2477A>G (p.Gln826Arg)
c.2708A>G (p.Gln903Arg)
c.1634A>G (p.Gln545Arg)
n.2689A>G
1g.151406201T>GCA341948399POGZc.2882A>C (p.Gln961Pro)
c.2675A>C (p.Gln892Pro)
c.2834A>C (p.Gln945Pro)
c.2855A>C (p.Gln952Pro)
n.2982A>C
c.2549A>C (p.Gln850Pro)
c.2807A>C (p.Gln936Pro)
c.2702A>C (p.Gln901Pro)
c.2648A>C (p.Gln883Pro)
c.2726A>C (p.Gln909Pro)
c.2477A>C (p.Gln826Pro)
c.2708A>C (p.Gln903Pro)
c.1634A>C (p.Gln545Pro)
n.2689A>C
1g.151406202G>ACA341948404POGZc.2881C>T (p.Gln961Ter)
c.2674C>T (p.Gln892Ter)
c.2833C>T (p.Gln945Ter)
c.2854C>T (p.Gln952Ter)
n.2981C>T
c.2548C>T (p.Gln850Ter)
c.2806C>T (p.Gln936Ter)
c.2701C>T (p.Gln901Ter)
c.2647C>T (p.Gln883Ter)
c.2725C>T (p.Gln909Ter)
c.2476C>T (p.Gln826Ter)
c.2707C>T (p.Gln903Ter)
c.1633C>T (p.Gln545Ter)
n.2688C>T
1g.151406202G>CCA1091055POGZc.2881C>G (p.Gln961Glu)
c.2674C>G (p.Gln892Glu)
c.2833C>G (p.Gln945Glu)
c.2854C>G (p.Gln952Glu)
n.2981C>G
c.2548C>G (p.Gln850Glu)
c.2806C>G (p.Gln936Glu)
c.2701C>G (p.Gln901Glu)
c.2647C>G (p.Gln883Glu)
c.2725C>G (p.Gln909Glu)
c.2476C>G (p.Gln826Glu)
c.2707C>G (p.Gln903Glu)
c.1633C>G (p.Gln545Glu)
n.2688C>G
 dbSNP ExAC gnomAD v2
1g.151406202G=CA2479570553POGZc.2881C= (p.Gln961=)
c.2674C= (p.Gln892=)
c.2833C= (p.Gln945=)
c.2854C= (p.Gln952=)
n.2981C=
c.2548C= (p.Gln850=)
c.2806C= (p.Gln936=)
c.2701C= (p.Gln901=)
c.2647C= (p.Gln883=)
c.2725C= (p.Gln909=)
c.2476C= (p.Gln826=)
c.2707C= (p.Gln903=)
c.1633C= (p.Gln545=)
n.2688C=
1g.151406202G>TCA1091054POGZc.2881C>A (p.Gln961Lys)
c.2674C>A (p.Gln892Lys)
c.2833C>A (p.Gln945Lys)
c.2854C>A (p.Gln952Lys)
n.2981C>A
c.2548C>A (p.Gln850Lys)
c.2806C>A (p.Gln936Lys)
c.2701C>A (p.Gln901Lys)
c.2647C>A (p.Gln883Lys)
c.2725C>A (p.Gln909Lys)
c.2476C>A (p.Gln826Lys)
c.2707C>A (p.Gln903Lys)
c.1633C>A (p.Gln545Lys)
n.2688C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406203A=CA2479570554POGZc.2880T= (p.Asp960=)
c.2673T= (p.Asp891=)
c.2832T= (p.Asp944=)
c.2853T= (p.Asp951=)
n.2980T=
c.2547T= (p.Asp849=)
c.2805T= (p.Asp935=)
c.2700T= (p.Asp900=)
c.2646T= (p.Asp882=)
c.2724T= (p.Asp908=)
c.2475T= (p.Asp825=)
c.2706T= (p.Asp902=)
c.1632T= (p.Asp544=)
n.2687T=
1g.151406203A>CCA341948409POGZc.2880T>G (p.Asp960Glu)
c.2673T>G (p.Asp891Glu)
c.2832T>G (p.Asp944Glu)
c.2853T>G (p.Asp951Glu)
n.2980T>G
c.2547T>G (p.Asp849Glu)
c.2805T>G (p.Asp935Glu)
c.2700T>G (p.Asp900Glu)
c.2646T>G (p.Asp882Glu)
c.2724T>G (p.Asp908Glu)
c.2475T>G (p.Asp825Glu)
c.2706T>G (p.Asp902Glu)
c.1632T>G (p.Asp544Glu)
n.2687T>G
1g.151406203A>GCA420910077POGZc.2880T>C (p.Asp960=)
c.2673T>C (p.Asp891=)
c.2832T>C (p.Asp944=)
c.2853T>C (p.Asp951=)
n.2980T>C
c.2547T>C (p.Asp849=)
c.2805T>C (p.Asp935=)
c.2700T>C (p.Asp900=)
c.2646T>C (p.Asp882=)
c.2724T>C (p.Asp908=)
c.2475T>C (p.Asp825=)
c.2706T>C (p.Asp902=)
c.1632T>C (p.Asp544=)
n.2687T>C
 dbSNP gnomAD v3 gnomAD v4
1g.151406203A>TCA341948413POGZc.2880T>A (p.Asp960Glu)
c.2673T>A (p.Asp891Glu)
c.2832T>A (p.Asp944Glu)
c.2853T>A (p.Asp951Glu)
n.2980T>A
c.2547T>A (p.Asp849Glu)
c.2805T>A (p.Asp935Glu)
c.2700T>A (p.Asp900Glu)
c.2646T>A (p.Asp882Glu)
c.2724T>A (p.Asp908Glu)
c.2475T>A (p.Asp825Glu)
c.2706T>A (p.Asp902Glu)
c.1632T>A (p.Asp544Glu)
n.2687T>A
 gnomAD v4 COSMIC COSMIC
1g.151406207_151406209delCA2647920375POGZc.2878_2880del (p.Asp960del)
c.2671_2673del (p.Asp891del)
c.2830_2832del (p.Asp944del)
c.2851_2853del (p.Asp951del)
n.2978_2980del
c.2545_2547del (p.Asp849del)
c.2803_2805del (p.Asp935del)
c.2698_2700del (p.Asp900del)
c.2644_2646del (p.Asp882del)
c.2722_2724del (p.Asp908del)
c.2473_2475del (p.Asp825del)
c.2704_2706del (p.Asp902del)
c.1630_1632del (p.Asp544del)
n.2685_2687del
 gnomAD v4
1g.151406204T>ACA341948420POGZc.2879A>T (p.Asp960Val)
c.2672A>T (p.Asp891Val)
c.2831A>T (p.Asp944Val)
c.2852A>T (p.Asp951Val)
n.2979A>T
c.2546A>T (p.Asp849Val)
c.2804A>T (p.Asp935Val)
c.2699A>T (p.Asp900Val)
c.2645A>T (p.Asp882Val)
c.2723A>T (p.Asp908Val)
c.2474A>T (p.Asp825Val)
c.2705A>T (p.Asp902Val)
c.1631A>T (p.Asp544Val)
n.2686A>T
1g.151406204T>CCA341948422POGZc.2879A>G (p.Asp960Gly)
c.2672A>G (p.Asp891Gly)
c.2831A>G (p.Asp944Gly)
c.2852A>G (p.Asp951Gly)
n.2979A>G
c.2546A>G (p.Asp849Gly)
c.2804A>G (p.Asp935Gly)
c.2699A>G (p.Asp900Gly)
c.2645A>G (p.Asp882Gly)
c.2723A>G (p.Asp908Gly)
c.2474A>G (p.Asp825Gly)
c.2705A>G (p.Asp902Gly)
c.1631A>G (p.Asp544Gly)
n.2686A>G
1g.151406204T>GCA341948425POGZc.2879A>C (p.Asp960Ala)
c.2672A>C (p.Asp891Ala)
c.2831A>C (p.Asp944Ala)
c.2852A>C (p.Asp951Ala)
n.2979A>C
c.2546A>C (p.Asp849Ala)
c.2804A>C (p.Asp935Ala)
c.2699A>C (p.Asp900Ala)
c.2645A>C (p.Asp882Ala)
c.2723A>C (p.Asp908Ala)
c.2474A>C (p.Asp825Ala)
c.2705A>C (p.Asp902Ala)
c.1631A>C (p.Asp544Ala)
n.2686A>C
1g.151406204_151406218delinsTCATCAACATTCAGACA2479570555POGZc.2865_2879delinsTCTGAATGTTGATGA (p.Cys955=)
c.2658_2672delinsTCTGAATGTTGATGA (p.Cys886=)
c.2817_2831delinsTCTGAATGTTGATGA (p.Cys939=)
c.2838_2852delinsTCTGAATGTTGATGA (p.Cys946=)
n.2965_2979delinsTCTGAATGTTGATGA
c.2532_2546delinsTCTGAATGTTGATGA (p.Cys844=)
c.2790_2804delinsTCTGAATGTTGATGA (p.Cys930=)
c.2685_2699delinsTCTGAATGTTGATGA (p.Cys895=)
c.2631_2645delinsTCTGAATGTTGATGA (p.Cys877=)
c.2709_2723delinsTCTGAATGTTGATGA (p.Cys903=)
c.2460_2474delinsTCTGAATGTTGATGA (p.Cys820=)
c.2691_2705delinsTCTGAATGTTGATGA (p.Cys897=)
c.1617_1631delinsTCTGAATGTTGATGA (p.Cys539=)
n.2672_2686delinsTCTGAATGTTGATGA
1g.151406205C>ACA341948432POGZc.2878G>T (p.Asp960Tyr)
c.2671G>T (p.Asp891Tyr)
c.2830G>T (p.Asp944Tyr)
c.2851G>T (p.Asp951Tyr)
n.2978G>T
c.2545G>T (p.Asp849Tyr)
c.2803G>T (p.Asp935Tyr)
c.2698G>T (p.Asp900Tyr)
c.2644G>T (p.Asp882Tyr)
c.2722G>T (p.Asp908Tyr)
c.2473G>T (p.Asp825Tyr)
c.2704G>T (p.Asp902Tyr)
c.1630G>T (p.Asp544Tyr)
n.2685G>T
1g.151406205C=CA2479570556POGZc.2878G= (p.Asp960=)
c.2671G= (p.Asp891=)
c.2830G= (p.Asp944=)
c.2851G= (p.Asp951=)
n.2978G=
c.2545G= (p.Asp849=)
c.2803G= (p.Asp935=)
c.2698G= (p.Asp900=)
c.2644G= (p.Asp882=)
c.2722G= (p.Asp908=)
c.2473G= (p.Asp825=)
c.2704G= (p.Asp902=)
c.1630G= (p.Asp544=)
n.2685G=
1g.151406205C>GCA341948436POGZc.2878G>C (p.Asp960His)
c.2671G>C (p.Asp891His)
c.2830G>C (p.Asp944His)
c.2851G>C (p.Asp951His)
n.2978G>C
c.2545G>C (p.Asp849His)
c.2803G>C (p.Asp935His)
c.2698G>C (p.Asp900His)
c.2644G>C (p.Asp882His)
c.2722G>C (p.Asp908His)
c.2473G>C (p.Asp825His)
c.2704G>C (p.Asp902His)
c.1630G>C (p.Asp544His)
n.2685G>C
1g.151406205C>TCA341948441POGZc.2878G>A (p.Asp960Asn)
c.2671G>A (p.Asp891Asn)
c.2830G>A (p.Asp944Asn)
c.2851G>A (p.Asp951Asn)
n.2978G>A
c.2545G>A (p.Asp849Asn)
c.2803G>A (p.Asp935Asn)
c.2698G>A (p.Asp900Asn)
c.2644G>A (p.Asp882Asn)
c.2722G>A (p.Asp908Asn)
c.2473G>A (p.Asp825Asn)
c.2704G>A (p.Asp902Asn)
c.1630G>A (p.Asp544Asn)
n.2685G>A
 dbSNP
1g.151406208_151406221delCA658795514POGZc.2865_2878del (p.Cys955Ter)
c.2658_2671del (p.Cys886Ter)
c.2817_2830del (p.Cys939Ter)
c.2838_2851del (p.Cys946Ter)
n.2965_2978del
c.2532_2545del (p.Cys844Ter)
c.2790_2803del (p.Cys930Ter)
c.2685_2698del (p.Cys895Ter)
c.2631_2644del (p.Cys877Ter)
c.2709_2722del (p.Cys903Ter)
c.2460_2473del (p.Cys820Ter)
c.2691_2704del (p.Cys897Ter)
c.1617_1630del (p.Cys539Ter)
n.2672_2685del
 ClinVar dbSNP
1g.151406206A>CCA341948444POGZc.2877T>G (p.Asp959Glu)
c.2670T>G (p.Asp890Glu)
c.2829T>G (p.Asp943Glu)
c.2850T>G (p.Asp950Glu)
n.2977T>G
c.2544T>G (p.Asp848Glu)
c.2802T>G (p.Asp934Glu)
c.2697T>G (p.Asp899Glu)
c.2643T>G (p.Asp881Glu)
c.2721T>G (p.Asp907Glu)
c.2472T>G (p.Asp824Glu)
c.2703T>G (p.Asp901Glu)
c.1629T>G (p.Asp543Glu)
n.2684T>G
1g.151406206A>GCA420910081POGZc.2877T>C (p.Asp959=)
c.2670T>C (p.Asp890=)
c.2829T>C (p.Asp943=)
c.2850T>C (p.Asp950=)
n.2977T>C
c.2544T>C (p.Asp848=)
c.2802T>C (p.Asp934=)
c.2697T>C (p.Asp899=)
c.2643T>C (p.Asp881=)
c.2721T>C (p.Asp907=)
c.2472T>C (p.Asp824=)
c.2703T>C (p.Asp901=)
c.1629T>C (p.Asp543=)
n.2684T>C
1g.151406206A>TCA341948448POGZc.2877T>A (p.Asp959Glu)
c.2670T>A (p.Asp890Glu)
c.2829T>A (p.Asp943Glu)
c.2850T>A (p.Asp950Glu)
n.2977T>A
c.2544T>A (p.Asp848Glu)
c.2802T>A (p.Asp934Glu)
c.2697T>A (p.Asp899Glu)
c.2643T>A (p.Asp881Glu)
c.2721T>A (p.Asp907Glu)
c.2472T>A (p.Asp824Glu)
c.2703T>A (p.Asp901Glu)
c.1629T>A (p.Asp543Glu)
n.2684T>A
1g.151406207T>ACA341948452POGZc.2876A>T (p.Asp959Val)
c.2669A>T (p.Asp890Val)
c.2828A>T (p.Asp943Val)
c.2849A>T (p.Asp950Val)
n.2976A>T
c.2543A>T (p.Asp848Val)
c.2801A>T (p.Asp934Val)
c.2696A>T (p.Asp899Val)
c.2642A>T (p.Asp881Val)
c.2720A>T (p.Asp907Val)
c.2471A>T (p.Asp824Val)
c.2702A>T (p.Asp901Val)
c.1628A>T (p.Asp543Val)
n.2683A>T
1g.151406207T>CCA341948459POGZc.2876A>G (p.Asp959Gly)
c.2669A>G (p.Asp890Gly)
c.2828A>G (p.Asp943Gly)
c.2849A>G (p.Asp950Gly)
n.2976A>G
c.2543A>G (p.Asp848Gly)
c.2801A>G (p.Asp934Gly)
c.2696A>G (p.Asp899Gly)
c.2642A>G (p.Asp881Gly)
c.2720A>G (p.Asp907Gly)
c.2471A>G (p.Asp824Gly)
c.2702A>G (p.Asp901Gly)
c.1628A>G (p.Asp543Gly)
n.2683A>G
 dbSNP
1g.151406207T>GCA341948455POGZc.2876A>C (p.Asp959Ala)
c.2669A>C (p.Asp890Ala)
c.2828A>C (p.Asp943Ala)
c.2849A>C (p.Asp950Ala)
n.2976A>C
c.2543A>C (p.Asp848Ala)
c.2801A>C (p.Asp934Ala)
c.2696A>C (p.Asp899Ala)
c.2642A>C (p.Asp881Ala)
c.2720A>C (p.Asp907Ala)
c.2471A>C (p.Asp824Ala)
c.2702A>C (p.Asp901Ala)
c.1628A>C (p.Asp543Ala)
n.2683A>C
1g.151406207T=CA2479570557POGZc.2876A= (p.Asp959=)
c.2669A= (p.Asp890=)
c.2828A= (p.Asp943=)
c.2849A= (p.Asp950=)
n.2976A=
c.2543A= (p.Asp848=)
c.2801A= (p.Asp934=)
c.2696A= (p.Asp899=)
c.2642A= (p.Asp881=)
c.2720A= (p.Asp907=)
c.2471A= (p.Asp824=)
c.2702A= (p.Asp901=)
c.1628A= (p.Asp543=)
n.2683A=
1g.151406208C>ACA341948464POGZc.2875G>T (p.Asp959Tyr)
c.2668G>T (p.Asp890Tyr)
c.2827G>T (p.Asp943Tyr)
c.2848G>T (p.Asp950Tyr)
n.2975G>T
c.2542G>T (p.Asp848Tyr)
c.2800G>T (p.Asp934Tyr)
c.2695G>T (p.Asp899Tyr)
c.2641G>T (p.Asp881Tyr)
c.2719G>T (p.Asp907Tyr)
c.2470G>T (p.Asp824Tyr)
c.2701G>T (p.Asp901Tyr)
c.1627G>T (p.Asp543Tyr)
n.2682G>T
1g.151406208C>GCA341948467POGZc.2875G>C (p.Asp959His)
c.2668G>C (p.Asp890His)
c.2827G>C (p.Asp943His)
c.2848G>C (p.Asp950His)
n.2975G>C
c.2542G>C (p.Asp848His)
c.2800G>C (p.Asp934His)
c.2695G>C (p.Asp899His)
c.2641G>C (p.Asp881His)
c.2719G>C (p.Asp907His)
c.2470G>C (p.Asp824His)
c.2701G>C (p.Asp901His)
c.1627G>C (p.Asp543His)
n.2682G>C
1g.151406208C>TCA341948470POGZc.2875G>A (p.Asp959Asn)
c.2668G>A (p.Asp890Asn)
c.2827G>A (p.Asp943Asn)
c.2848G>A (p.Asp950Asn)
n.2975G>A
c.2542G>A (p.Asp848Asn)
c.2800G>A (p.Asp934Asn)
c.2695G>A (p.Asp899Asn)
c.2641G>A (p.Asp881Asn)
c.2719G>A (p.Asp907Asn)
c.2470G>A (p.Asp824Asn)
c.2701G>A (p.Asp901Asn)
c.1627G>A (p.Asp543Asn)
n.2682G>A
1g.151406209A>CCA420910087POGZc.2874T>G (p.Val958=)
c.2667T>G (p.Val889=)
c.2826T>G (p.Val942=)
c.2847T>G (p.Val949=)
n.2974T>G
c.2541T>G (p.Val847=)
c.2799T>G (p.Val933=)
c.2694T>G (p.Val898=)
c.2640T>G (p.Val880=)
c.2718T>G (p.Val906=)
c.2469T>G (p.Val823=)
c.2700T>G (p.Val900=)
c.1626T>G (p.Val542=)
n.2681T>G
1g.151406209A>GCA420910088POGZc.2874T>C (p.Val958=)
c.2667T>C (p.Val889=)
c.2826T>C (p.Val942=)
c.2847T>C (p.Val949=)
n.2974T>C
c.2541T>C (p.Val847=)
c.2799T>C (p.Val933=)
c.2694T>C (p.Val898=)
c.2640T>C (p.Val880=)
c.2718T>C (p.Val906=)
c.2469T>C (p.Val823=)
c.2700T>C (p.Val900=)
c.1626T>C (p.Val542=)
n.2681T>C
1g.151406209A>TCA420910089POGZc.2874T>A (p.Val958=)
c.2667T>A (p.Val889=)
c.2826T>A (p.Val942=)
c.2847T>A (p.Val949=)
n.2974T>A
c.2541T>A (p.Val847=)
c.2799T>A (p.Val933=)
c.2694T>A (p.Val898=)
c.2640T>A (p.Val880=)
c.2718T>A (p.Val906=)
c.2469T>A (p.Val823=)
c.2700T>A (p.Val900=)
c.1626T>A (p.Val542=)
n.2681T>A
1g.151406209_151406216delCA2580061025POGZc.2867_2874del (p.Leu956ArgfsTer2)
c.2660_2667del (p.Leu887ArgfsTer2)
c.2819_2826del (p.Leu940ArgfsTer2)
c.2840_2847del (p.Leu947ArgfsTer2)
n.2967_2974del
c.2534_2541del (p.Leu845ArgfsTer2)
c.2792_2799del (p.Leu931ArgfsTer2)
c.2687_2694del (p.Leu896ArgfsTer2)
c.2633_2640del (p.Leu878ArgfsTer2)
c.2711_2718del (p.Leu904ArgfsTer2)
c.2462_2469del (p.Leu821ArgfsTer2)
c.2693_2700del (p.Leu898ArgfsTer2)
c.1619_1626del (p.Leu540ArgfsTer2)
n.2674_2681del
 ClinVar
1g.151406210A>CCA341948474POGZc.2873T>G (p.Val958Gly)
c.2666T>G (p.Val889Gly)
c.2825T>G (p.Val942Gly)
c.2846T>G (p.Val949Gly)
n.2973T>G
c.2540T>G (p.Val847Gly)
c.2798T>G (p.Val933Gly)
c.2693T>G (p.Val898Gly)
c.2639T>G (p.Val880Gly)
c.2717T>G (p.Val906Gly)
c.2468T>G (p.Val823Gly)
c.2699T>G (p.Val900Gly)
c.1625T>G (p.Val542Gly)
n.2680T>G
 gnomAD v4
1g.151406210A>GCA341948477POGZc.2873T>C (p.Val958Ala)
c.2666T>C (p.Val889Ala)
c.2825T>C (p.Val942Ala)
c.2846T>C (p.Val949Ala)
n.2973T>C
c.2540T>C (p.Val847Ala)
c.2798T>C (p.Val933Ala)
c.2693T>C (p.Val898Ala)
c.2639T>C (p.Val880Ala)
c.2717T>C (p.Val906Ala)
c.2468T>C (p.Val823Ala)
c.2699T>C (p.Val900Ala)
c.1625T>C (p.Val542Ala)
n.2680T>C
1g.151406210A>TCA341948481POGZc.2873T>A (p.Val958Asp)
c.2666T>A (p.Val889Asp)
c.2825T>A (p.Val942Asp)
c.2846T>A (p.Val949Asp)
n.2973T>A
c.2540T>A (p.Val847Asp)
c.2798T>A (p.Val933Asp)
c.2693T>A (p.Val898Asp)
c.2639T>A (p.Val880Asp)
c.2717T>A (p.Val906Asp)
c.2468T>A (p.Val823Asp)
c.2699T>A (p.Val900Asp)
c.1625T>A (p.Val542Asp)
n.2680T>A
1g.151406211C>ACA341948482POGZc.2872G>T (p.Val958Phe)
c.2665G>T (p.Val889Phe)
c.2824G>T (p.Val942Phe)
c.2845G>T (p.Val949Phe)
n.2972G>T
c.2539G>T (p.Val847Phe)
c.2797G>T (p.Val933Phe)
c.2692G>T (p.Val898Phe)
c.2638G>T (p.Val880Phe)
c.2716G>T (p.Val906Phe)
c.2467G>T (p.Val823Phe)
c.2698G>T (p.Val900Phe)
c.1624G>T (p.Val542Phe)
n.2679G>T
1g.151406211C>GCA341948483POGZc.2872G>C (p.Val958Leu)
c.2665G>C (p.Val889Leu)
c.2824G>C (p.Val942Leu)
c.2845G>C (p.Val949Leu)
n.2972G>C
c.2539G>C (p.Val847Leu)
c.2797G>C (p.Val933Leu)
c.2692G>C (p.Val898Leu)
c.2638G>C (p.Val880Leu)
c.2716G>C (p.Val906Leu)
c.2467G>C (p.Val823Leu)
c.2698G>C (p.Val900Leu)
c.1624G>C (p.Val542Leu)
n.2679G>C
1g.151406211C>TCA341948486POGZc.2872G>A (p.Val958Ile)
c.2665G>A (p.Val889Ile)
c.2824G>A (p.Val942Ile)
c.2845G>A (p.Val949Ile)
n.2972G>A
c.2539G>A (p.Val847Ile)
c.2797G>A (p.Val933Ile)
c.2692G>A (p.Val898Ile)
c.2638G>A (p.Val880Ile)
c.2716G>A (p.Val906Ile)
c.2467G>A (p.Val823Ile)
c.2698G>A (p.Val900Ile)
c.1624G>A (p.Val542Ile)
n.2679G>A
1g.151406212A=CA2479570558POGZc.2871T= (p.Asn957=)
c.2664T= (p.Asn888=)
c.2823T= (p.Asn941=)
c.2844T= (p.Asn948=)
n.2971T=
c.2538T= (p.Asn846=)
c.2796T= (p.Asn932=)
c.2691T= (p.Asn897=)
c.2637T= (p.Asn879=)
c.2715T= (p.Asn905=)
c.2466T= (p.Asn822=)
c.2697T= (p.Asn899=)
c.1623T= (p.Asn541=)
n.2678T=
1g.151406212A>CCA341948489POGZc.2871T>G (p.Asn957Lys)
c.2664T>G (p.Asn888Lys)
c.2823T>G (p.Asn941Lys)
c.2844T>G (p.Asn948Lys)
n.2971T>G
c.2538T>G (p.Asn846Lys)
c.2796T>G (p.Asn932Lys)
c.2691T>G (p.Asn897Lys)
c.2637T>G (p.Asn879Lys)
c.2715T>G (p.Asn905Lys)
c.2466T>G (p.Asn822Lys)
c.2697T>G (p.Asn899Lys)
c.1623T>G (p.Asn541Lys)
n.2678T>G
1g.151406212A>GCA420910093POGZc.2871T>C (p.Asn957=)
c.2664T>C (p.Asn888=)
c.2823T>C (p.Asn941=)
c.2844T>C (p.Asn948=)
n.2971T>C
c.2538T>C (p.Asn846=)
c.2796T>C (p.Asn932=)
c.2691T>C (p.Asn897=)
c.2637T>C (p.Asn879=)
c.2715T>C (p.Asn905=)
c.2466T>C (p.Asn822=)
c.2697T>C (p.Asn899=)
c.1623T>C (p.Asn541=)
n.2678T>C
 dbSNP
1g.151406212A>TCA341948491POGZc.2871T>A (p.Asn957Lys)
c.2664T>A (p.Asn888Lys)
c.2823T>A (p.Asn941Lys)
c.2844T>A (p.Asn948Lys)
n.2971T>A
c.2538T>A (p.Asn846Lys)
c.2796T>A (p.Asn932Lys)
c.2691T>A (p.Asn897Lys)
c.2637T>A (p.Asn879Lys)
c.2715T>A (p.Asn905Lys)
c.2466T>A (p.Asn822Lys)
c.2697T>A (p.Asn899Lys)
c.1623T>A (p.Asn541Lys)
n.2678T>A
1g.151406213T>ACA341948501POGZc.2870A>T (p.Asn957Ile)
c.2663A>T (p.Asn888Ile)
c.2822A>T (p.Asn941Ile)
c.2843A>T (p.Asn948Ile)
n.2970A>T
c.2537A>T (p.Asn846Ile)
c.2795A>T (p.Asn932Ile)
c.2690A>T (p.Asn897Ile)
c.2636A>T (p.Asn879Ile)
c.2714A>T (p.Asn905Ile)
c.2465A>T (p.Asn822Ile)
c.2696A>T (p.Asn899Ile)
c.1622A>T (p.Asn541Ile)
n.2677A>T
1g.151406213T>CCA341948510POGZc.2870A>G (p.Asn957Ser)
c.2663A>G (p.Asn888Ser)
c.2822A>G (p.Asn941Ser)
c.2843A>G (p.Asn948Ser)
n.2970A>G
c.2537A>G (p.Asn846Ser)
c.2795A>G (p.Asn932Ser)
c.2690A>G (p.Asn897Ser)
c.2636A>G (p.Asn879Ser)
c.2714A>G (p.Asn905Ser)
c.2465A>G (p.Asn822Ser)
c.2696A>G (p.Asn899Ser)
c.1622A>G (p.Asn541Ser)
n.2677A>G
1g.151406213T>GCA341948497POGZc.2870A>C (p.Asn957Thr)
c.2663A>C (p.Asn888Thr)
c.2822A>C (p.Asn941Thr)
c.2843A>C (p.Asn948Thr)
n.2970A>C
c.2537A>C (p.Asn846Thr)
c.2795A>C (p.Asn932Thr)
c.2690A>C (p.Asn897Thr)
c.2636A>C (p.Asn879Thr)
c.2714A>C (p.Asn905Thr)
c.2465A>C (p.Asn822Thr)
c.2696A>C (p.Asn899Thr)
c.1622A>C (p.Asn541Thr)
n.2677A>C
1g.151406214T>ACA341948516POGZc.2869A>T (p.Asn957Tyr)
c.2662A>T (p.Asn888Tyr)
c.2821A>T (p.Asn941Tyr)
c.2842A>T (p.Asn948Tyr)
n.2969A>T
c.2536A>T (p.Asn846Tyr)
c.2794A>T (p.Asn932Tyr)
c.2689A>T (p.Asn897Tyr)
c.2635A>T (p.Asn879Tyr)
c.2713A>T (p.Asn905Tyr)
c.2464A>T (p.Asn822Tyr)
c.2695A>T (p.Asn899Tyr)
c.1621A>T (p.Asn541Tyr)
n.2676A>T
1g.151406214T>CCA341948525POGZc.2869A>G (p.Asn957Asp)
c.2662A>G (p.Asn888Asp)
c.2821A>G (p.Asn941Asp)
c.2842A>G (p.Asn948Asp)
n.2969A>G
c.2536A>G (p.Asn846Asp)
c.2794A>G (p.Asn932Asp)
c.2689A>G (p.Asn897Asp)
c.2635A>G (p.Asn879Asp)
c.2713A>G (p.Asn905Asp)
c.2464A>G (p.Asn822Asp)
c.2695A>G (p.Asn899Asp)
c.1621A>G (p.Asn541Asp)
n.2676A>G
1g.151406214T>GCA341948520POGZc.2869A>C (p.Asn957His)
c.2662A>C (p.Asn888His)
c.2821A>C (p.Asn941His)
c.2842A>C (p.Asn948His)
n.2969A>C
c.2536A>C (p.Asn846His)
c.2794A>C (p.Asn932His)
c.2689A>C (p.Asn897His)
c.2635A>C (p.Asn879His)
c.2713A>C (p.Asn905His)
c.2464A>C (p.Asn822His)
c.2695A>C (p.Asn899His)
c.1621A>C (p.Asn541His)
n.2676A>C
1g.151406215C>ACA420910096POGZc.2868G>T (p.Leu956=)
c.2661G>T (p.Leu887=)
c.2820G>T (p.Leu940=)
c.2841G>T (p.Leu947=)
n.2968G>T
c.2535G>T (p.Leu845=)
c.2793G>T (p.Leu931=)
c.2688G>T (p.Leu896=)
c.2634G>T (p.Leu878=)
c.2712G>T (p.Leu904=)
c.2463G>T (p.Leu821=)
c.2694G>T (p.Leu898=)
c.1620G>T (p.Leu540=)
n.2675G>T
1g.151406215C=CA2479570559POGZc.2868G= (p.Leu956=)
c.2661G= (p.Leu887=)
c.2820G= (p.Leu940=)
c.2841G= (p.Leu947=)
n.2968G=
c.2535G= (p.Leu845=)
c.2793G= (p.Leu931=)
c.2688G= (p.Leu896=)
c.2634G= (p.Leu878=)
c.2712G= (p.Leu904=)
c.2463G= (p.Leu821=)
c.2694G= (p.Leu898=)
c.1620G= (p.Leu540=)
n.2675G=
1g.151406215C>GCA420910097POGZc.2868G>C (p.Leu956=)
c.2661G>C (p.Leu887=)
c.2820G>C (p.Leu940=)
c.2841G>C (p.Leu947=)
n.2968G>C
c.2535G>C (p.Leu845=)
c.2793G>C (p.Leu931=)
c.2688G>C (p.Leu896=)
c.2634G>C (p.Leu878=)
c.2712G>C (p.Leu904=)
c.2463G>C (p.Leu821=)
c.2694G>C (p.Leu898=)
c.1620G>C (p.Leu540=)
n.2675G>C
1g.151406215C>TCA1091056POGZc.2868G>A (p.Leu956=)
c.2661G>A (p.Leu887=)
c.2820G>A (p.Leu940=)
c.2841G>A (p.Leu947=)
n.2968G>A
c.2535G>A (p.Leu845=)
c.2793G>A (p.Leu931=)
c.2688G>A (p.Leu896=)
c.2634G>A (p.Leu878=)
c.2712G>A (p.Leu904=)
c.2463G>A (p.Leu821=)
c.2694G>A (p.Leu898=)
c.1620G>A (p.Leu540=)
n.2675G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406215dupCA2586964171POGZc.2868dup (p.Asn957GlufsTer3)
c.2661dup (p.Asn888GlufsTer3)
c.2820dup (p.Asn941GlufsTer3)
c.2841dup (p.Asn948GlufsTer3)
n.2968dup
c.2535dup (p.Asn846GlufsTer3)
c.2793dup (p.Asn932GlufsTer3)
c.2688dup (p.Asn897GlufsTer3)
c.2634dup (p.Asn879GlufsTer3)
c.2712dup (p.Asn905GlufsTer3)
c.2463dup (p.Asn822GlufsTer3)
c.2694dup (p.Asn899GlufsTer3)
c.1620dup (p.Asn541GlufsTer3)
n.2675dup
1g.151406216A=CA2479570560POGZc.2867T= (p.Leu956=)
c.2660T= (p.Leu887=)
c.2819T= (p.Leu940=)
c.2840T= (p.Leu947=)
n.2967T=
c.2534T= (p.Leu845=)
c.2792T= (p.Leu931=)
c.2687T= (p.Leu896=)
c.2633T= (p.Leu878=)
c.2711T= (p.Leu904=)
c.2462T= (p.Leu821=)
c.2693T= (p.Leu898=)
c.1619T= (p.Leu540=)
n.2674T=
1g.151406216A>CCA341948538POGZc.2867T>G (p.Leu956Arg)
c.2660T>G (p.Leu887Arg)
c.2819T>G (p.Leu940Arg)
c.2840T>G (p.Leu947Arg)
n.2967T>G
c.2534T>G (p.Leu845Arg)
c.2792T>G (p.Leu931Arg)
c.2687T>G (p.Leu896Arg)
c.2633T>G (p.Leu878Arg)
c.2711T>G (p.Leu904Arg)
c.2462T>G (p.Leu821Arg)
c.2693T>G (p.Leu898Arg)
c.1619T>G (p.Leu540Arg)
n.2674T>G
1g.151406216A>GCA341948533POGZc.2867T>C (p.Leu956Pro)
c.2660T>C (p.Leu887Pro)
c.2819T>C (p.Leu940Pro)
c.2840T>C (p.Leu947Pro)
n.2967T>C
c.2534T>C (p.Leu845Pro)
c.2792T>C (p.Leu931Pro)
c.2687T>C (p.Leu896Pro)
c.2633T>C (p.Leu878Pro)
c.2711T>C (p.Leu904Pro)
c.2462T>C (p.Leu821Pro)
c.2693T>C (p.Leu898Pro)
c.1619T>C (p.Leu540Pro)
n.2674T>C
 dbSNP
1g.151406216A>TCA341948536POGZc.2867T>A (p.Leu956Gln)
c.2660T>A (p.Leu887Gln)
c.2819T>A (p.Leu940Gln)
c.2840T>A (p.Leu947Gln)
n.2967T>A
c.2534T>A (p.Leu845Gln)
c.2792T>A (p.Leu931Gln)
c.2687T>A (p.Leu896Gln)
c.2633T>A (p.Leu878Gln)
c.2711T>A (p.Leu904Gln)
c.2462T>A (p.Leu821Gln)
c.2693T>A (p.Leu898Gln)
c.1619T>A (p.Leu540Gln)
n.2674T>A
1g.151406217G>ACA420910103POGZc.2866C>T (p.Leu956=)
c.2659C>T (p.Leu887=)
c.2818C>T (p.Leu940=)
c.2839C>T (p.Leu947=)
n.2966C>T
c.2533C>T (p.Leu845=)
c.2791C>T (p.Leu931=)
c.2686C>T (p.Leu896=)
c.2632C>T (p.Leu878=)
c.2710C>T (p.Leu904=)
c.2461C>T (p.Leu821=)
c.2692C>T (p.Leu898=)
c.1618C>T (p.Leu540=)
n.2673C>T
 gnomAD v4
1g.151406217G>CCA341948545POGZc.2866C>G (p.Leu956Val)
c.2659C>G (p.Leu887Val)
c.2818C>G (p.Leu940Val)
c.2839C>G (p.Leu947Val)
n.2966C>G
c.2533C>G (p.Leu845Val)
c.2791C>G (p.Leu931Val)
c.2686C>G (p.Leu896Val)
c.2632C>G (p.Leu878Val)
c.2710C>G (p.Leu904Val)
c.2461C>G (p.Leu821Val)
c.2692C>G (p.Leu898Val)
c.1618C>G (p.Leu540Val)
n.2673C>G
1g.151406217G>TCA341948549POGZc.2866C>A (p.Leu956Met)
c.2659C>A (p.Leu887Met)
c.2818C>A (p.Leu940Met)
c.2839C>A (p.Leu947Met)
n.2966C>A
c.2533C>A (p.Leu845Met)
c.2791C>A (p.Leu931Met)
c.2686C>A (p.Leu896Met)
c.2632C>A (p.Leu878Met)
c.2710C>A (p.Leu904Met)
c.2461C>A (p.Leu821Met)
c.2692C>A (p.Leu898Met)
c.1618C>A (p.Leu540Met)
n.2673C>A
1g.151406218A>CCA341948553POGZc.2865T>G (p.Cys955Trp)
c.2658T>G (p.Cys886Trp)
c.2817T>G (p.Cys939Trp)
c.2838T>G (p.Cys946Trp)
n.2965T>G
c.2532T>G (p.Cys844Trp)
c.2790T>G (p.Cys930Trp)
c.2685T>G (p.Cys895Trp)
c.2631T>G (p.Cys877Trp)
c.2709T>G (p.Cys903Trp)
c.2460T>G (p.Cys820Trp)
c.2691T>G (p.Cys897Trp)
c.1617T>G (p.Cys539Trp)
n.2672T>G
1g.151406218A>GCA420910106POGZc.2865T>C (p.Cys955=)
c.2658T>C (p.Cys886=)
c.2817T>C (p.Cys939=)
c.2838T>C (p.Cys946=)
n.2965T>C
c.2532T>C (p.Cys844=)
c.2790T>C (p.Cys930=)
c.2685T>C (p.Cys895=)
c.2631T>C (p.Cys877=)
c.2709T>C (p.Cys903=)
c.2460T>C (p.Cys820=)
c.2691T>C (p.Cys897=)
c.1617T>C (p.Cys539=)
n.2672T>C
1g.151406218A>TCA341948556POGZc.2865T>A (p.Cys955Ter)
c.2658T>A (p.Cys886Ter)
c.2817T>A (p.Cys939Ter)
c.2838T>A (p.Cys946Ter)
n.2965T>A
c.2532T>A (p.Cys844Ter)
c.2790T>A (p.Cys930Ter)
c.2685T>A (p.Cys895Ter)
c.2631T>A (p.Cys877Ter)
c.2709T>A (p.Cys903Ter)
c.2460T>A (p.Cys820Ter)
c.2691T>A (p.Cys897Ter)
c.1617T>A (p.Cys539Ter)
n.2672T>A
1g.151406219C>ACA341948563POGZc.2864G>T (p.Cys955Phe)
c.2657G>T (p.Cys886Phe)
c.2816G>T (p.Cys939Phe)
c.2837G>T (p.Cys946Phe)
n.2964G>T
c.2531G>T (p.Cys844Phe)
c.2789G>T (p.Cys930Phe)
c.2684G>T (p.Cys895Phe)
c.2630G>T (p.Cys877Phe)
c.2708G>T (p.Cys903Phe)
c.2459G>T (p.Cys820Phe)
c.2690G>T (p.Cys897Phe)
c.1616G>T (p.Cys539Phe)
n.2671G>T
1g.151406219C>GCA341948566POGZc.2864G>C (p.Cys955Ser)
c.2657G>C (p.Cys886Ser)
c.2816G>C (p.Cys939Ser)
c.2837G>C (p.Cys946Ser)
n.2964G>C
c.2531G>C (p.Cys844Ser)
c.2789G>C (p.Cys930Ser)
c.2684G>C (p.Cys895Ser)
c.2630G>C (p.Cys877Ser)
c.2708G>C (p.Cys903Ser)
c.2459G>C (p.Cys820Ser)
c.2690G>C (p.Cys897Ser)
c.1616G>C (p.Cys539Ser)
n.2671G>C
1g.151406219C>TCA341948576POGZc.2864G>A (p.Cys955Tyr)
c.2657G>A (p.Cys886Tyr)
c.2816G>A (p.Cys939Tyr)
c.2837G>A (p.Cys946Tyr)
n.2964G>A
c.2531G>A (p.Cys844Tyr)
c.2789G>A (p.Cys930Tyr)
c.2684G>A (p.Cys895Tyr)
c.2630G>A (p.Cys877Tyr)
c.2708G>A (p.Cys903Tyr)
c.2459G>A (p.Cys820Tyr)
c.2690G>A (p.Cys897Tyr)
c.1616G>A (p.Cys539Tyr)
n.2671G>A
1g.151406220A>CCA341948578POGZc.2863T>G (p.Cys955Gly)
c.2656T>G (p.Cys886Gly)
c.2815T>G (p.Cys939Gly)
c.2836T>G (p.Cys946Gly)
n.2963T>G
c.2530T>G (p.Cys844Gly)
c.2788T>G (p.Cys930Gly)
c.2683T>G (p.Cys895Gly)
c.2629T>G (p.Cys877Gly)
c.2707T>G (p.Cys903Gly)
c.2458T>G (p.Cys820Gly)
c.2689T>G (p.Cys897Gly)
c.1615T>G (p.Cys539Gly)
n.2670T>G
1g.151406220A>GCA341948580POGZc.2863T>C (p.Cys955Arg)
c.2656T>C (p.Cys886Arg)
c.2815T>C (p.Cys939Arg)
c.2836T>C (p.Cys946Arg)
n.2963T>C
c.2530T>C (p.Cys844Arg)
c.2788T>C (p.Cys930Arg)
c.2683T>C (p.Cys895Arg)
c.2629T>C (p.Cys877Arg)
c.2707T>C (p.Cys903Arg)
c.2458T>C (p.Cys820Arg)
c.2689T>C (p.Cys897Arg)
c.1615T>C (p.Cys539Arg)
n.2670T>C
1g.151406220A>TCA341948581POGZc.2863T>A (p.Cys955Ser)
c.2656T>A (p.Cys886Ser)
c.2815T>A (p.Cys939Ser)
c.2836T>A (p.Cys946Ser)
n.2963T>A
c.2530T>A (p.Cys844Ser)
c.2788T>A (p.Cys930Ser)
c.2683T>A (p.Cys895Ser)
c.2629T>A (p.Cys877Ser)
c.2707T>A (p.Cys903Ser)
c.2458T>A (p.Cys820Ser)
c.2689T>A (p.Cys897Ser)
c.1615T>A (p.Cys539Ser)
n.2670T>A
 gnomAD v4
1g.151406221T>ACA341948590POGZc.2862A>T (p.Glu954Asp)
c.2655A>T (p.Glu885Asp)
c.2814A>T (p.Glu938Asp)
c.2835A>T (p.Glu945Asp)
n.2962A>T
c.2529A>T (p.Glu843Asp)
c.2787A>T (p.Glu929Asp)
c.2682A>T (p.Glu894Asp)
c.2628A>T (p.Glu876Asp)
c.2706A>T (p.Glu902Asp)
c.2457A>T (p.Glu819Asp)
c.2688A>T (p.Glu896Asp)
c.1614A>T (p.Glu538Asp)
n.2669A>T
1g.151406221T>CCA1091057POGZc.2862A>G (p.Glu954=)
c.2655A>G (p.Glu885=)
c.2814A>G (p.Glu938=)
c.2835A>G (p.Glu945=)
n.2962A>G
c.2529A>G (p.Glu843=)
c.2787A>G (p.Glu929=)
c.2682A>G (p.Glu894=)
c.2628A>G (p.Glu876=)
c.2706A>G (p.Glu902=)
c.2457A>G (p.Glu819=)
c.2688A>G (p.Glu896=)
c.1614A>G (p.Glu538=)
n.2669A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406221T>GCA341948586POGZc.2862A>C (p.Glu954Asp)
c.2655A>C (p.Glu885Asp)
c.2814A>C (p.Glu938Asp)
c.2835A>C (p.Glu945Asp)
n.2962A>C
c.2529A>C (p.Glu843Asp)
c.2787A>C (p.Glu929Asp)
c.2682A>C (p.Glu894Asp)
c.2628A>C (p.Glu876Asp)
c.2706A>C (p.Glu902Asp)
c.2457A>C (p.Glu819Asp)
c.2688A>C (p.Glu896Asp)
c.1614A>C (p.Glu538Asp)
n.2669A>C
1g.151406221T=CA2479570561POGZc.2862A= (p.Glu954=)
c.2655A= (p.Glu885=)
c.2814A= (p.Glu938=)
c.2835A= (p.Glu945=)
n.2962A=
c.2529A= (p.Glu843=)
c.2787A= (p.Glu929=)
c.2682A= (p.Glu894=)
c.2628A= (p.Glu876=)
c.2706A= (p.Glu902=)
c.2457A= (p.Glu819=)
c.2688A= (p.Glu896=)
c.1614A= (p.Glu538=)
n.2669A=
1g.151406222T>ACA341948608POGZc.2861A>T (p.Glu954Val)
c.2654A>T (p.Glu885Val)
c.2813A>T (p.Glu938Val)
c.2834A>T (p.Glu945Val)
n.2961A>T
c.2528A>T (p.Glu843Val)
c.2786A>T (p.Glu929Val)
c.2681A>T (p.Glu894Val)
c.2627A>T (p.Glu876Val)
c.2705A>T (p.Glu902Val)
c.2456A>T (p.Glu819Val)
c.2687A>T (p.Glu896Val)
c.1613A>T (p.Glu538Val)
n.2668A>T
1g.151406222T>CCA341948612POGZc.2861A>G (p.Glu954Gly)
c.2654A>G (p.Glu885Gly)
c.2813A>G (p.Glu938Gly)
c.2834A>G (p.Glu945Gly)
n.2961A>G
c.2528A>G (p.Glu843Gly)
c.2786A>G (p.Glu929Gly)
c.2681A>G (p.Glu894Gly)
c.2627A>G (p.Glu876Gly)
c.2705A>G (p.Glu902Gly)
c.2456A>G (p.Glu819Gly)
c.2687A>G (p.Glu896Gly)
c.1613A>G (p.Glu538Gly)
n.2668A>G
1g.151406222T>GCA341948616POGZc.2861A>C (p.Glu954Ala)
c.2654A>C (p.Glu885Ala)
c.2813A>C (p.Glu938Ala)
c.2834A>C (p.Glu945Ala)
n.2961A>C
c.2528A>C (p.Glu843Ala)
c.2786A>C (p.Glu929Ala)
c.2681A>C (p.Glu894Ala)
c.2627A>C (p.Glu876Ala)
c.2705A>C (p.Glu902Ala)
c.2456A>C (p.Glu819Ala)
c.2687A>C (p.Glu896Ala)
c.1613A>C (p.Glu538Ala)
n.2668A>C
1g.151406223C>ACA341948621POGZc.2860G>T (p.Glu954Ter)
c.2653G>T (p.Glu885Ter)
c.2812G>T (p.Glu938Ter)
c.2833G>T (p.Glu945Ter)
n.2960G>T
c.2527G>T (p.Glu843Ter)
c.2785G>T (p.Glu929Ter)
c.2680G>T (p.Glu894Ter)
c.2626G>T (p.Glu876Ter)
c.2704G>T (p.Glu902Ter)
c.2455G>T (p.Glu819Ter)
c.2686G>T (p.Glu896Ter)
c.1612G>T (p.Glu538Ter)
n.2667G>T
1g.151406223C=CA2479570562POGZc.2860G= (p.Glu954=)
c.2653G= (p.Glu885=)
c.2812G= (p.Glu938=)
c.2833G= (p.Glu945=)
n.2960G=
c.2527G= (p.Glu843=)
c.2785G= (p.Glu929=)
c.2680G= (p.Glu894=)
c.2626G= (p.Glu876=)
c.2704G= (p.Glu902=)
c.2455G= (p.Glu819=)
c.2686G= (p.Glu896=)
c.1612G= (p.Glu538=)
n.2667G=
1g.151406223C>GCA341948624POGZc.2860G>C (p.Glu954Gln)
c.2653G>C (p.Glu885Gln)
c.2812G>C (p.Glu938Gln)
c.2833G>C (p.Glu945Gln)
n.2960G>C
c.2527G>C (p.Glu843Gln)
c.2785G>C (p.Glu929Gln)
c.2680G>C (p.Glu894Gln)
c.2626G>C (p.Glu876Gln)
c.2704G>C (p.Glu902Gln)
c.2455G>C (p.Glu819Gln)
c.2686G>C (p.Glu896Gln)
c.1612G>C (p.Glu538Gln)
n.2667G>C
1g.151406223C>TCA29569306POGZc.2860G>A (p.Glu954Lys)
c.2653G>A (p.Glu885Lys)
c.2812G>A (p.Glu938Lys)
c.2833G>A (p.Glu945Lys)
n.2960G>A
c.2527G>A (p.Glu843Lys)
c.2785G>A (p.Glu929Lys)
c.2680G>A (p.Glu894Lys)
c.2626G>A (p.Glu876Lys)
c.2704G>A (p.Glu902Lys)
c.2455G>A (p.Glu819Lys)
c.2686G>A (p.Glu896Lys)
c.1612G>A (p.Glu538Lys)
n.2667G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406224G>ACA1091058POGZc.2859C>T (p.Ala953=)
c.2652C>T (p.Ala884=)
c.2811C>T (p.Ala937=)
c.2832C>T (p.Ala944=)
n.2959C>T
c.2526C>T (p.Ala842=)
c.2784C>T (p.Ala928=)
c.2679C>T (p.Ala893=)
c.2625C>T (p.Ala875=)
c.2703C>T (p.Ala901=)
c.2454C>T (p.Ala818=)
c.2685C>T (p.Ala895=)
c.1611C>T (p.Ala537=)
n.2666C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406224G>CCA420910113POGZc.2859C>G (p.Ala953=)
c.2652C>G (p.Ala884=)
c.2811C>G (p.Ala937=)
c.2832C>G (p.Ala944=)
n.2959C>G
c.2526C>G (p.Ala842=)
c.2784C>G (p.Ala928=)
c.2679C>G (p.Ala893=)
c.2625C>G (p.Ala875=)
c.2703C>G (p.Ala901=)
c.2454C>G (p.Ala818=)
c.2685C>G (p.Ala895=)
c.1611C>G (p.Ala537=)
n.2666C>G
1g.151406224G=CA1143417049POGZc.2859C= (p.Ala953=)
c.2652C= (p.Ala884=)
c.2811C= (p.Ala937=)
c.2832C= (p.Ala944=)
n.2959C=
c.2526C= (p.Ala842=)
c.2784C= (p.Ala928=)
c.2679C= (p.Ala893=)
c.2625C= (p.Ala875=)
c.2703C= (p.Ala901=)
c.2454C= (p.Ala818=)
c.2685C= (p.Ala895=)
c.1611C= (p.Ala537=)
n.2666C=
1g.151406224G>TCA420910114POGZc.2859C>A (p.Ala953=)
c.2652C>A (p.Ala884=)
c.2811C>A (p.Ala937=)
c.2832C>A (p.Ala944=)
n.2959C>A
c.2526C>A (p.Ala842=)
c.2784C>A (p.Ala928=)
c.2679C>A (p.Ala893=)
c.2625C>A (p.Ala875=)
c.2703C>A (p.Ala901=)
c.2454C>A (p.Ala818=)
c.2685C>A (p.Ala895=)
c.1611C>A (p.Ala537=)
n.2666C>A
1g.151406225G>ACA341948640POGZc.2858C>T (p.Ala953Val)
c.2651C>T (p.Ala884Val)
c.2810C>T (p.Ala937Val)
c.2831C>T (p.Ala944Val)
n.2958C>T
c.2525C>T (p.Ala842Val)
c.2783C>T (p.Ala928Val)
c.2678C>T (p.Ala893Val)
c.2624C>T (p.Ala875Val)
c.2702C>T (p.Ala901Val)
c.2453C>T (p.Ala818Val)
c.2684C>T (p.Ala895Val)
c.1610C>T (p.Ala537Val)
n.2665C>T
1g.151406225G>CCA341948643POGZc.2858C>G (p.Ala953Gly)
c.2651C>G (p.Ala884Gly)
c.2810C>G (p.Ala937Gly)
c.2831C>G (p.Ala944Gly)
n.2958C>G
c.2525C>G (p.Ala842Gly)
c.2783C>G (p.Ala928Gly)
c.2678C>G (p.Ala893Gly)
c.2624C>G (p.Ala875Gly)
c.2702C>G (p.Ala901Gly)
c.2453C>G (p.Ala818Gly)
c.2684C>G (p.Ala895Gly)
c.1610C>G (p.Ala537Gly)
n.2665C>G
1g.151406225G>TCA341948651POGZc.2858C>A (p.Ala953Asp)
c.2651C>A (p.Ala884Asp)
c.2810C>A (p.Ala937Asp)
c.2831C>A (p.Ala944Asp)
n.2958C>A
c.2525C>A (p.Ala842Asp)
c.2783C>A (p.Ala928Asp)
c.2678C>A (p.Ala893Asp)
c.2624C>A (p.Ala875Asp)
c.2702C>A (p.Ala901Asp)
c.2453C>A (p.Ala818Asp)
c.2684C>A (p.Ala895Asp)
c.1610C>A (p.Ala537Asp)
n.2665C>A
1g.151406226C>ACA341948656POGZc.2857G>T (p.Ala953Ser)
c.2650G>T (p.Ala884Ser)
c.2809G>T (p.Ala937Ser)
c.2830G>T (p.Ala944Ser)
n.2957G>T
c.2524G>T (p.Ala842Ser)
c.2782G>T (p.Ala928Ser)
c.2677G>T (p.Ala893Ser)
c.2623G>T (p.Ala875Ser)
c.2701G>T (p.Ala901Ser)
c.2452G>T (p.Ala818Ser)
c.2683G>T (p.Ala895Ser)
c.1609G>T (p.Ala537Ser)
n.2664G>T
1g.151406226C>GCA341948660POGZc.2857G>C (p.Ala953Pro)
c.2650G>C (p.Ala884Pro)
c.2809G>C (p.Ala937Pro)
c.2830G>C (p.Ala944Pro)
n.2957G>C
c.2524G>C (p.Ala842Pro)
c.2782G>C (p.Ala928Pro)
c.2677G>C (p.Ala893Pro)
c.2623G>C (p.Ala875Pro)
c.2701G>C (p.Ala901Pro)
c.2452G>C (p.Ala818Pro)
c.2683G>C (p.Ala895Pro)
c.1609G>C (p.Ala537Pro)
n.2664G>C
1g.151406226C>TCA341948663POGZc.2857G>A (p.Ala953Thr)
c.2650G>A (p.Ala884Thr)
c.2809G>A (p.Ala937Thr)
c.2830G>A (p.Ala944Thr)
n.2957G>A
c.2524G>A (p.Ala842Thr)
c.2782G>A (p.Ala928Thr)
c.2677G>A (p.Ala893Thr)
c.2623G>A (p.Ala875Thr)
c.2701G>A (p.Ala901Thr)
c.2452G>A (p.Ala818Thr)
c.2683G>A (p.Ala895Thr)
c.1609G>A (p.Ala537Thr)
n.2664G>A
1g.151406227T>ACA420910123POGZc.2856A>T (p.Gly952=)
c.2649A>T (p.Gly883=)
c.2808A>T (p.Gly936=)
c.2829A>T (p.Gly943=)
n.2956A>T
c.2523A>T (p.Gly841=)
c.2781A>T (p.Gly927=)
c.2676A>T (p.Gly892=)
c.2622A>T (p.Gly874=)
c.2700A>T (p.Gly900=)
c.2451A>T (p.Gly817=)
c.2682A>T (p.Gly894=)
c.1608A>T (p.Gly536=)
n.2663A>T
1g.151406227T>CCA420910122POGZc.2856A>G (p.Gly952=)
c.2649A>G (p.Gly883=)
c.2808A>G (p.Gly936=)
c.2829A>G (p.Gly943=)
n.2956A>G
c.2523A>G (p.Gly841=)
c.2781A>G (p.Gly927=)
c.2676A>G (p.Gly892=)
c.2622A>G (p.Gly874=)
c.2700A>G (p.Gly900=)
c.2451A>G (p.Gly817=)
c.2682A>G (p.Gly894=)
c.1608A>G (p.Gly536=)
n.2663A>G
1g.151406227T>GCA420910121POGZc.2856A>C (p.Gly952=)
c.2649A>C (p.Gly883=)
c.2808A>C (p.Gly936=)
c.2829A>C (p.Gly943=)
n.2956A>C
c.2523A>C (p.Gly841=)
c.2781A>C (p.Gly927=)
c.2676A>C (p.Gly892=)
c.2622A>C (p.Gly874=)
c.2700A>C (p.Gly900=)
c.2451A>C (p.Gly817=)
c.2682A>C (p.Gly894=)
c.1608A>C (p.Gly536=)
n.2663A>C
1g.151406228C>ACA341948674POGZc.2855G>T (p.Gly952Val)
c.2648G>T (p.Gly883Val)
c.2807G>T (p.Gly936Val)
c.2828G>T (p.Gly943Val)
n.2955G>T
c.2522G>T (p.Gly841Val)
c.2780G>T (p.Gly927Val)
c.2675G>T (p.Gly892Val)
c.2621G>T (p.Gly874Val)
c.2699G>T (p.Gly900Val)
c.2450G>T (p.Gly817Val)
c.2681G>T (p.Gly894Val)
c.1607G>T (p.Gly536Val)
n.2662G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406228C=CA2479570563POGZc.2855G= (p.Gly952=)
c.2648G= (p.Gly883=)
c.2807G= (p.Gly936=)
c.2828G= (p.Gly943=)
n.2955G=
c.2522G= (p.Gly841=)
c.2780G= (p.Gly927=)
c.2675G= (p.Gly892=)
c.2621G= (p.Gly874=)
c.2699G= (p.Gly900=)
c.2450G= (p.Gly817=)
c.2681G= (p.Gly894=)
c.1607G= (p.Gly536=)
n.2662G=
1g.151406228C>GCA341948675POGZc.2855G>C (p.Gly952Ala)
c.2648G>C (p.Gly883Ala)
c.2807G>C (p.Gly936Ala)
c.2828G>C (p.Gly943Ala)
n.2955G>C
c.2522G>C (p.Gly841Ala)
c.2780G>C (p.Gly927Ala)
c.2675G>C (p.Gly892Ala)
c.2621G>C (p.Gly874Ala)
c.2699G>C (p.Gly900Ala)
c.2450G>C (p.Gly817Ala)
c.2681G>C (p.Gly894Ala)
c.1607G>C (p.Gly536Ala)
n.2662G>C
1g.151406228C>TCA341948669POGZc.2855G>A (p.Gly952Glu)
c.2648G>A (p.Gly883Glu)
c.2807G>A (p.Gly936Glu)
c.2828G>A (p.Gly943Glu)
n.2955G>A
c.2522G>A (p.Gly841Glu)
c.2780G>A (p.Gly927Glu)
c.2675G>A (p.Gly892Glu)
c.2621G>A (p.Gly874Glu)
c.2699G>A (p.Gly900Glu)
c.2450G>A (p.Gly817Glu)
c.2681G>A (p.Gly894Glu)
c.1607G>A (p.Gly536Glu)
n.2662G>A
1g.151406229C>ACA341948676POGZc.2854G>T (p.Gly952Ter)
c.2647G>T (p.Gly883Ter)
c.2806G>T (p.Gly936Ter)
c.2827G>T (p.Gly943Ter)
n.2954G>T
c.2521G>T (p.Gly841Ter)
c.2779G>T (p.Gly927Ter)
c.2674G>T (p.Gly892Ter)
c.2620G>T (p.Gly874Ter)
c.2698G>T (p.Gly900Ter)
c.2449G>T (p.Gly817Ter)
c.2680G>T (p.Gly894Ter)
c.1606G>T (p.Gly536Ter)
n.2661G>T
 ClinVar
1g.151406229C>GCA341948677POGZc.2854G>C (p.Gly952Arg)
c.2647G>C (p.Gly883Arg)
c.2806G>C (p.Gly936Arg)
c.2827G>C (p.Gly943Arg)
n.2954G>C
c.2521G>C (p.Gly841Arg)
c.2779G>C (p.Gly927Arg)
c.2674G>C (p.Gly892Arg)
c.2620G>C (p.Gly874Arg)
c.2698G>C (p.Gly900Arg)
c.2449G>C (p.Gly817Arg)
c.2680G>C (p.Gly894Arg)
c.1606G>C (p.Gly536Arg)
n.2661G>C
 ClinVar dbSNP
1g.151406229C>TCA341948679POGZc.2854G>A (p.Gly952Arg)
c.2647G>A (p.Gly883Arg)
c.2806G>A (p.Gly936Arg)
c.2827G>A (p.Gly943Arg)
n.2954G>A
c.2521G>A (p.Gly841Arg)
c.2779G>A (p.Gly927Arg)
c.2674G>A (p.Gly892Arg)
c.2620G>A (p.Gly874Arg)
c.2698G>A (p.Gly900Arg)
c.2449G>A (p.Gly817Arg)
c.2680G>A (p.Gly894Arg)
c.1606G>A (p.Gly536Arg)
n.2661G>A
1g.151406230C>ACA341948688POGZc.2853G>T (p.Glu951Asp)
c.2646G>T (p.Glu882Asp)
c.2805G>T (p.Glu935Asp)
c.2826G>T (p.Glu942Asp)
n.2953G>T
c.2520G>T (p.Glu840Asp)
c.2778G>T (p.Glu926Asp)
c.2673G>T (p.Glu891Asp)
c.2619G>T (p.Glu873Asp)
c.2697G>T (p.Glu899Asp)
c.2448G>T (p.Glu816Asp)
c.2679G>T (p.Glu893Asp)
c.1605G>T (p.Glu535Asp)
n.2660G>T
1g.151406230C>GCA341948703POGZc.2853G>C (p.Glu951Asp)
c.2646G>C (p.Glu882Asp)
c.2805G>C (p.Glu935Asp)
c.2826G>C (p.Glu942Asp)
n.2953G>C
c.2520G>C (p.Glu840Asp)
c.2778G>C (p.Glu926Asp)
c.2673G>C (p.Glu891Asp)
c.2619G>C (p.Glu873Asp)
c.2697G>C (p.Glu899Asp)
c.2448G>C (p.Glu816Asp)
c.2679G>C (p.Glu893Asp)
c.1605G>C (p.Glu535Asp)
n.2660G>C
1g.151406230C>TCA420910128POGZc.2853G>A (p.Glu951=)
c.2646G>A (p.Glu882=)
c.2805G>A (p.Glu935=)
c.2826G>A (p.Glu942=)
n.2953G>A
c.2520G>A (p.Glu840=)
c.2778G>A (p.Glu926=)
c.2673G>A (p.Glu891=)
c.2619G>A (p.Glu873=)
c.2697G>A (p.Glu899=)
c.2448G>A (p.Glu816=)
c.2679G>A (p.Glu893=)
c.1605G>A (p.Glu535=)
n.2660G>A
1g.151406231T>ACA341948710POGZc.2852A>T (p.Glu951Val)
c.2645A>T (p.Glu882Val)
c.2804A>T (p.Glu935Val)
c.2825A>T (p.Glu942Val)
n.2952A>T
c.2519A>T (p.Glu840Val)
c.2777A>T (p.Glu926Val)
c.2672A>T (p.Glu891Val)
c.2618A>T (p.Glu873Val)
c.2696A>T (p.Glu899Val)
c.2447A>T (p.Glu816Val)
c.2678A>T (p.Glu893Val)
c.1604A>T (p.Glu535Val)
n.2659A>T
1g.151406231T>CCA341948712POGZc.2852A>G (p.Glu951Gly)
c.2645A>G (p.Glu882Gly)
c.2804A>G (p.Glu935Gly)
c.2825A>G (p.Glu942Gly)
n.2952A>G
c.2519A>G (p.Glu840Gly)
c.2777A>G (p.Glu926Gly)
c.2672A>G (p.Glu891Gly)
c.2618A>G (p.Glu873Gly)
c.2696A>G (p.Glu899Gly)
c.2447A>G (p.Glu816Gly)
c.2678A>G (p.Glu893Gly)
c.1604A>G (p.Glu535Gly)
n.2659A>G
1g.151406231T>GCA341948715POGZc.2852A>C (p.Glu951Ala)
c.2645A>C (p.Glu882Ala)
c.2804A>C (p.Glu935Ala)
c.2825A>C (p.Glu942Ala)
n.2952A>C
c.2519A>C (p.Glu840Ala)
c.2777A>C (p.Glu926Ala)
c.2672A>C (p.Glu891Ala)
c.2618A>C (p.Glu873Ala)
c.2696A>C (p.Glu899Ala)
c.2447A>C (p.Glu816Ala)
c.2678A>C (p.Glu893Ala)
c.1604A>C (p.Glu535Ala)
n.2659A>C
1g.151406232C>ACA341948718POGZc.2851G>T (p.Glu951Ter)
c.2644G>T (p.Glu882Ter)
c.2803G>T (p.Glu935Ter)
c.2824G>T (p.Glu942Ter)
n.2951G>T
c.2518G>T (p.Glu840Ter)
c.2776G>T (p.Glu926Ter)
c.2671G>T (p.Glu891Ter)
c.2617G>T (p.Glu873Ter)
c.2695G>T (p.Glu899Ter)
c.2446G>T (p.Glu816Ter)
c.2677G>T (p.Glu893Ter)
c.1603G>T (p.Glu535Ter)
n.2658G>T
1g.151406232C>GCA341948719POGZc.2851G>C (p.Glu951Gln)
c.2644G>C (p.Glu882Gln)
c.2803G>C (p.Glu935Gln)
c.2824G>C (p.Glu942Gln)
n.2951G>C
c.2518G>C (p.Glu840Gln)
c.2776G>C (p.Glu926Gln)
c.2671G>C (p.Glu891Gln)
c.2617G>C (p.Glu873Gln)
c.2695G>C (p.Glu899Gln)
c.2446G>C (p.Glu816Gln)
c.2677G>C (p.Glu893Gln)
c.1603G>C (p.Glu535Gln)
n.2658G>C
1g.151406232C>TCA341948721POGZc.2851G>A (p.Glu951Lys)
c.2644G>A (p.Glu882Lys)
c.2803G>A (p.Glu935Lys)
c.2824G>A (p.Glu942Lys)
n.2951G>A
c.2518G>A (p.Glu840Lys)
c.2776G>A (p.Glu926Lys)
c.2671G>A (p.Glu891Lys)
c.2617G>A (p.Glu873Lys)
c.2695G>A (p.Glu899Lys)
c.2446G>A (p.Glu816Lys)
c.2677G>A (p.Glu893Lys)
c.1603G>A (p.Glu535Lys)
n.2658G>A
1g.151406233T>ACA420910132POGZc.2850A>T (p.Thr950=)
c.2643A>T (p.Thr881=)
c.2802A>T (p.Thr934=)
c.2823A>T (p.Thr941=)
n.2950A>T
c.2517A>T (p.Thr839=)
c.2775A>T (p.Thr925=)
c.2670A>T (p.Thr890=)
c.2616A>T (p.Thr872=)
c.2694A>T (p.Thr898=)
c.2445A>T (p.Thr815=)
c.2676A>T (p.Thr892=)
c.1602A>T (p.Thr534=)
n.2657A>T
1g.151406233T>CCA420910133POGZc.2850A>G (p.Thr950=)
c.2643A>G (p.Thr881=)
c.2802A>G (p.Thr934=)
c.2823A>G (p.Thr941=)
n.2950A>G
c.2517A>G (p.Thr839=)
c.2775A>G (p.Thr925=)
c.2670A>G (p.Thr890=)
c.2616A>G (p.Thr872=)
c.2694A>G (p.Thr898=)
c.2445A>G (p.Thr815=)
c.2676A>G (p.Thr892=)
c.1602A>G (p.Thr534=)
n.2657A>G
 gnomAD v4
1g.151406233T>GCA420910134POGZc.2850A>C (p.Thr950=)
c.2643A>C (p.Thr881=)
c.2802A>C (p.Thr934=)
c.2823A>C (p.Thr941=)
n.2950A>C
c.2517A>C (p.Thr839=)
c.2775A>C (p.Thr925=)
c.2670A>C (p.Thr890=)
c.2616A>C (p.Thr872=)
c.2694A>C (p.Thr898=)
c.2445A>C (p.Thr815=)
c.2676A>C (p.Thr892=)
c.1602A>C (p.Thr534=)
n.2657A>C
1g.151406234G>ACA341948734POGZc.2849C>T (p.Thr950Ile)
c.2642C>T (p.Thr881Ile)
c.2801C>T (p.Thr934Ile)
c.2822C>T (p.Thr941Ile)
n.2949C>T
c.2516C>T (p.Thr839Ile)
c.2774C>T (p.Thr925Ile)
c.2669C>T (p.Thr890Ile)
c.2615C>T (p.Thr872Ile)
c.2693C>T (p.Thr898Ile)
c.2444C>T (p.Thr815Ile)
c.2675C>T (p.Thr892Ile)
c.1601C>T (p.Thr534Ile)
n.2656C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406234G>CCA341948731POGZc.2849C>G (p.Thr950Arg)
c.2642C>G (p.Thr881Arg)
c.2801C>G (p.Thr934Arg)
c.2822C>G (p.Thr941Arg)
n.2949C>G
c.2516C>G (p.Thr839Arg)
c.2774C>G (p.Thr925Arg)
c.2669C>G (p.Thr890Arg)
c.2615C>G (p.Thr872Arg)
c.2693C>G (p.Thr898Arg)
c.2444C>G (p.Thr815Arg)
c.2675C>G (p.Thr892Arg)
c.1601C>G (p.Thr534Arg)
n.2656C>G
1g.151406234G=CA2479570564POGZc.2849C= (p.Thr950=)
c.2642C= (p.Thr881=)
c.2801C= (p.Thr934=)
c.2822C= (p.Thr941=)
n.2949C=
c.2516C= (p.Thr839=)
c.2774C= (p.Thr925=)
c.2669C= (p.Thr890=)
c.2615C= (p.Thr872=)
c.2693C= (p.Thr898=)
c.2444C= (p.Thr815=)
c.2675C= (p.Thr892=)
c.1601C= (p.Thr534=)
n.2656C=
1g.151406234G>TCA341948727POGZc.2849C>A (p.Thr950Lys)
c.2642C>A (p.Thr881Lys)
c.2801C>A (p.Thr934Lys)
c.2822C>A (p.Thr941Lys)
n.2949C>A
c.2516C>A (p.Thr839Lys)
c.2774C>A (p.Thr925Lys)
c.2669C>A (p.Thr890Lys)
c.2615C>A (p.Thr872Lys)
c.2693C>A (p.Thr898Lys)
c.2444C>A (p.Thr815Lys)
c.2675C>A (p.Thr892Lys)
c.1601C>A (p.Thr534Lys)
n.2656C>A
1g.151406235T>ACA29569307POGZc.2848A>T (p.Thr950Ser)
c.2641A>T (p.Thr881Ser)
c.2800A>T (p.Thr934Ser)
c.2821A>T (p.Thr941Ser)
n.2948A>T
c.2515A>T (p.Thr839Ser)
c.2773A>T (p.Thr925Ser)
c.2668A>T (p.Thr890Ser)
c.2614A>T (p.Thr872Ser)
c.2692A>T (p.Thr898Ser)
c.2443A>T (p.Thr815Ser)
c.2674A>T (p.Thr892Ser)
c.1600A>T (p.Thr534Ser)
n.2655A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406235T>CCA341948744POGZc.2848A>G (p.Thr950Ala)
c.2641A>G (p.Thr881Ala)
c.2800A>G (p.Thr934Ala)
c.2821A>G (p.Thr941Ala)
n.2948A>G
c.2515A>G (p.Thr839Ala)
c.2773A>G (p.Thr925Ala)
c.2668A>G (p.Thr890Ala)
c.2614A>G (p.Thr872Ala)
c.2692A>G (p.Thr898Ala)
c.2443A>G (p.Thr815Ala)
c.2674A>G (p.Thr892Ala)
c.1600A>G (p.Thr534Ala)
n.2655A>G
1g.151406235T>GCA341948747POGZc.2848A>C (p.Thr950Pro)
c.2641A>C (p.Thr881Pro)
c.2800A>C (p.Thr934Pro)
c.2821A>C (p.Thr941Pro)
n.2948A>C
c.2515A>C (p.Thr839Pro)
c.2773A>C (p.Thr925Pro)
c.2668A>C (p.Thr890Pro)
c.2614A>C (p.Thr872Pro)
c.2692A>C (p.Thr898Pro)
c.2443A>C (p.Thr815Pro)
c.2674A>C (p.Thr892Pro)
c.1600A>C (p.Thr534Pro)
n.2655A>C
1g.151406235T=CA2479570565POGZc.2848A= (p.Thr950=)
c.2641A= (p.Thr881=)
c.2800A= (p.Thr934=)
c.2821A= (p.Thr941=)
n.2948A=
c.2515A= (p.Thr839=)
c.2773A= (p.Thr925=)
c.2668A= (p.Thr890=)
c.2614A= (p.Thr872=)
c.2692A= (p.Thr898=)
c.2443A= (p.Thr815=)
c.2674A= (p.Thr892=)
c.1600A= (p.Thr534=)
n.2655A=
1g.151406236A=CA2479570566POGZc.2847T= (p.Ala949=)
c.2640T= (p.Ala880=)
c.2799T= (p.Ala933=)
c.2820T= (p.Ala940=)
n.2947T=
c.2514T= (p.Ala838=)
c.2772T= (p.Ala924=)
c.2667T= (p.Ala889=)
c.2613T= (p.Ala871=)
c.2691T= (p.Ala897=)
c.2442T= (p.Ala814=)
c.2673T= (p.Ala891=)
c.1599T= (p.Ala533=)
n.2654T=
1g.151406236A>CCA420910138POGZc.2847T>G (p.Ala949=)
c.2640T>G (p.Ala880=)
c.2799T>G (p.Ala933=)
c.2820T>G (p.Ala940=)
n.2947T>G
c.2514T>G (p.Ala838=)
c.2772T>G (p.Ala924=)
c.2667T>G (p.Ala889=)
c.2613T>G (p.Ala871=)
c.2691T>G (p.Ala897=)
c.2442T>G (p.Ala814=)
c.2673T>G (p.Ala891=)
c.1599T>G (p.Ala533=)
n.2654T>G
1g.151406236A>GCA29569308POGZc.2847T>C (p.Ala949=)
c.2640T>C (p.Ala880=)
c.2799T>C (p.Ala933=)
c.2820T>C (p.Ala940=)
n.2947T>C
c.2514T>C (p.Ala838=)
c.2772T>C (p.Ala924=)
c.2667T>C (p.Ala889=)
c.2613T>C (p.Ala871=)
c.2691T>C (p.Ala897=)
c.2442T>C (p.Ala814=)
c.2673T>C (p.Ala891=)
c.1599T>C (p.Ala533=)
n.2654T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406236A>TCA420910139POGZc.2847T>A (p.Ala949=)
c.2640T>A (p.Ala880=)
c.2799T>A (p.Ala933=)
c.2820T>A (p.Ala940=)
n.2947T>A
c.2514T>A (p.Ala838=)
c.2772T>A (p.Ala924=)
c.2667T>A (p.Ala889=)
c.2613T>A (p.Ala871=)
c.2691T>A (p.Ala897=)
c.2442T>A (p.Ala814=)
c.2673T>A (p.Ala891=)
c.1599T>A (p.Ala533=)
n.2654T>A
1g.151406237G>ACA341948752POGZc.2846C>T (p.Ala949Val)
c.2639C>T (p.Ala880Val)
c.2798C>T (p.Ala933Val)
c.2819C>T (p.Ala940Val)
n.2946C>T
c.2513C>T (p.Ala838Val)
c.2771C>T (p.Ala924Val)
c.2666C>T (p.Ala889Val)
c.2612C>T (p.Ala871Val)
c.2690C>T (p.Ala897Val)
c.2441C>T (p.Ala814Val)
c.2672C>T (p.Ala891Val)
c.1598C>T (p.Ala533Val)
n.2653C>T
 gnomAD v4
1g.151406237G>CCA341948757POGZc.2846C>G (p.Ala949Gly)
c.2639C>G (p.Ala880Gly)
c.2798C>G (p.Ala933Gly)
c.2819C>G (p.Ala940Gly)
n.2946C>G
c.2513C>G (p.Ala838Gly)
c.2771C>G (p.Ala924Gly)
c.2666C>G (p.Ala889Gly)
c.2612C>G (p.Ala871Gly)
c.2690C>G (p.Ala897Gly)
c.2441C>G (p.Ala814Gly)
c.2672C>G (p.Ala891Gly)
c.1598C>G (p.Ala533Gly)
n.2653C>G
1g.151406237G>TCA341948759POGZc.2846C>A (p.Ala949Asp)
c.2639C>A (p.Ala880Asp)
c.2798C>A (p.Ala933Asp)
c.2819C>A (p.Ala940Asp)
n.2946C>A
c.2513C>A (p.Ala838Asp)
c.2771C>A (p.Ala924Asp)
c.2666C>A (p.Ala889Asp)
c.2612C>A (p.Ala871Asp)
c.2690C>A (p.Ala897Asp)
c.2441C>A (p.Ala814Asp)
c.2672C>A (p.Ala891Asp)
c.1598C>A (p.Ala533Asp)
n.2653C>A
1g.151406238C>ACA341948762POGZc.2845G>T (p.Ala949Ser)
c.2638G>T (p.Ala880Ser)
c.2797G>T (p.Ala933Ser)
c.2818G>T (p.Ala940Ser)
n.2945G>T
c.2512G>T (p.Ala838Ser)
c.2770G>T (p.Ala924Ser)
c.2665G>T (p.Ala889Ser)
c.2611G>T (p.Ala871Ser)
c.2689G>T (p.Ala897Ser)
c.2440G>T (p.Ala814Ser)
c.2671G>T (p.Ala891Ser)
c.1597G>T (p.Ala533Ser)
n.2652G>T
 gnomAD v4
1g.151406238C>GCA341948766POGZc.2845G>C (p.Ala949Pro)
c.2638G>C (p.Ala880Pro)
c.2797G>C (p.Ala933Pro)
c.2818G>C (p.Ala940Pro)
n.2945G>C
c.2512G>C (p.Ala838Pro)
c.2770G>C (p.Ala924Pro)
c.2665G>C (p.Ala889Pro)
c.2611G>C (p.Ala871Pro)
c.2689G>C (p.Ala897Pro)
c.2440G>C (p.Ala814Pro)
c.2671G>C (p.Ala891Pro)
c.1597G>C (p.Ala533Pro)
n.2652G>C
1g.151406238C>TCA341948777POGZc.2845G>A (p.Ala949Thr)
c.2638G>A (p.Ala880Thr)
c.2797G>A (p.Ala933Thr)
c.2818G>A (p.Ala940Thr)
n.2945G>A
c.2512G>A (p.Ala838Thr)
c.2770G>A (p.Ala924Thr)
c.2665G>A (p.Ala889Thr)
c.2611G>A (p.Ala871Thr)
c.2689G>A (p.Ala897Thr)
c.2440G>A (p.Ala814Thr)
c.2671G>A (p.Ala891Thr)
c.1597G>A (p.Ala533Thr)
n.2652G>A
1g.151406239C>ACA420910143POGZc.2844G>T (p.Leu948=)
c.2637G>T (p.Leu879=)
c.2796G>T (p.Leu932=)
c.2817G>T (p.Leu939=)
n.2944G>T
c.2511G>T (p.Leu837=)
c.2769G>T (p.Leu923=)
c.2664G>T (p.Leu888=)
c.2610G>T (p.Leu870=)
c.2688G>T (p.Leu896=)
c.2439G>T (p.Leu813=)
c.2670G>T (p.Leu890=)
c.1596G>T (p.Leu532=)
n.2651G>T
 gnomAD v4
1g.151406239C=CA2479570567POGZc.2844G= (p.Leu948=)
c.2637G= (p.Leu879=)
c.2796G= (p.Leu932=)
c.2817G= (p.Leu939=)
n.2944G=
c.2511G= (p.Leu837=)
c.2769G= (p.Leu923=)
c.2664G= (p.Leu888=)
c.2610G= (p.Leu870=)
c.2688G= (p.Leu896=)
c.2439G= (p.Leu813=)
c.2670G= (p.Leu890=)
c.1596G= (p.Leu532=)
n.2651G=
1g.151406239C>GCA420910144POGZc.2844G>C (p.Leu948=)
c.2637G>C (p.Leu879=)
c.2796G>C (p.Leu932=)
c.2817G>C (p.Leu939=)
n.2944G>C
c.2511G>C (p.Leu837=)
c.2769G>C (p.Leu923=)
c.2664G>C (p.Leu888=)
c.2610G>C (p.Leu870=)
c.2688G>C (p.Leu896=)
c.2439G>C (p.Leu813=)
c.2670G>C (p.Leu890=)
c.1596G>C (p.Leu532=)
n.2651G>C
1g.151406239C>TCA420910145POGZc.2844G>A (p.Leu948=)
c.2637G>A (p.Leu879=)
c.2796G>A (p.Leu932=)
c.2817G>A (p.Leu939=)
n.2944G>A
c.2511G>A (p.Leu837=)
c.2769G>A (p.Leu923=)
c.2664G>A (p.Leu888=)
c.2610G>A (p.Leu870=)
c.2688G>A (p.Leu896=)
c.2439G>A (p.Leu813=)
c.2670G>A (p.Leu890=)
c.1596G>A (p.Leu532=)
n.2651G>A
 dbSNP
1g.151406240A>CCA341948781POGZc.2843T>G (p.Leu948Arg)
c.2636T>G (p.Leu879Arg)
c.2795T>G (p.Leu932Arg)
c.2816T>G (p.Leu939Arg)
n.2943T>G
c.2510T>G (p.Leu837Arg)
c.2768T>G (p.Leu923Arg)
c.2663T>G (p.Leu888Arg)
c.2609T>G (p.Leu870Arg)
c.2687T>G (p.Leu896Arg)
c.2438T>G (p.Leu813Arg)
c.2669T>G (p.Leu890Arg)
c.1595T>G (p.Leu532Arg)
n.2650T>G
1g.151406240A>GCA341948785POGZc.2843T>C (p.Leu948Pro)
c.2636T>C (p.Leu879Pro)
c.2795T>C (p.Leu932Pro)
c.2816T>C (p.Leu939Pro)
n.2943T>C
c.2510T>C (p.Leu837Pro)
c.2768T>C (p.Leu923Pro)
c.2663T>C (p.Leu888Pro)
c.2609T>C (p.Leu870Pro)
c.2687T>C (p.Leu896Pro)
c.2438T>C (p.Leu813Pro)
c.2669T>C (p.Leu890Pro)
c.1595T>C (p.Leu532Pro)
n.2650T>C
1g.151406240A>TCA341948788POGZc.2843T>A (p.Leu948Gln)
c.2636T>A (p.Leu879Gln)
c.2795T>A (p.Leu932Gln)
c.2816T>A (p.Leu939Gln)
n.2943T>A
c.2510T>A (p.Leu837Gln)
c.2768T>A (p.Leu923Gln)
c.2663T>A (p.Leu888Gln)
c.2609T>A (p.Leu870Gln)
c.2687T>A (p.Leu896Gln)
c.2438T>A (p.Leu813Gln)
c.2669T>A (p.Leu890Gln)
c.1595T>A (p.Leu532Gln)
n.2650T>A
1g.151406241G>ACA420910146POGZc.2842C>T (p.Leu948=)
c.2635C>T (p.Leu879=)
c.2794C>T (p.Leu932=)
c.2815C>T (p.Leu939=)
n.2942C>T
c.2509C>T (p.Leu837=)
c.2767C>T (p.Leu923=)
c.2662C>T (p.Leu888=)
c.2608C>T (p.Leu870=)
c.2686C>T (p.Leu896=)
c.2437C>T (p.Leu813=)
c.2668C>T (p.Leu890=)
c.1594C>T (p.Leu532=)
n.2649C>T
1g.151406241G>CCA341948799POGZc.2842C>G (p.Leu948Val)
c.2635C>G (p.Leu879Val)
c.2794C>G (p.Leu932Val)
c.2815C>G (p.Leu939Val)
n.2942C>G
c.2509C>G (p.Leu837Val)
c.2767C>G (p.Leu923Val)
c.2662C>G (p.Leu888Val)
c.2608C>G (p.Leu870Val)
c.2686C>G (p.Leu896Val)
c.2437C>G (p.Leu813Val)
c.2668C>G (p.Leu890Val)
c.1594C>G (p.Leu532Val)
n.2649C>G
1g.151406241G>TCA341948797POGZc.2842C>A (p.Leu948Met)
c.2635C>A (p.Leu879Met)
c.2794C>A (p.Leu932Met)
c.2815C>A (p.Leu939Met)
n.2942C>A
c.2509C>A (p.Leu837Met)
c.2767C>A (p.Leu923Met)
c.2662C>A (p.Leu888Met)
c.2608C>A (p.Leu870Met)
c.2686C>A (p.Leu896Met)
c.2437C>A (p.Leu813Met)
c.2668C>A (p.Leu890Met)
c.1594C>A (p.Leu532Met)
n.2649C>A
1g.151406242C>ACA420910149POGZc.2841G>T (p.Pro947=)
c.2634G>T (p.Pro878=)
c.2793G>T (p.Pro931=)
c.2814G>T (p.Pro938=)
n.2941G>T
c.2508G>T (p.Pro836=)
c.2766G>T (p.Pro922=)
c.2661G>T (p.Pro887=)
c.2607G>T (p.Pro869=)
c.2685G>T (p.Pro895=)
c.2436G>T (p.Pro812=)
c.2667G>T (p.Pro889=)
c.1593G>T (p.Pro531=)
n.2648G>T
 gnomAD v4
1g.151406242C=CA2479570568POGZc.2841G= (p.Pro947=)
c.2634G= (p.Pro878=)
c.2793G= (p.Pro931=)
c.2814G= (p.Pro938=)
n.2941G=
c.2508G= (p.Pro836=)
c.2766G= (p.Pro922=)
c.2661G= (p.Pro887=)
c.2607G= (p.Pro869=)
c.2685G= (p.Pro895=)
c.2436G= (p.Pro812=)
c.2667G= (p.Pro889=)
c.1593G= (p.Pro531=)
n.2648G=
1g.151406242C>GCA420910147POGZc.2841G>C (p.Pro947=)
c.2634G>C (p.Pro878=)
c.2793G>C (p.Pro931=)
c.2814G>C (p.Pro938=)
n.2941G>C
c.2508G>C (p.Pro836=)
c.2766G>C (p.Pro922=)
c.2661G>C (p.Pro887=)
c.2607G>C (p.Pro869=)
c.2685G>C (p.Pro895=)
c.2436G>C (p.Pro812=)
c.2667G>C (p.Pro889=)
c.1593G>C (p.Pro531=)
n.2648G>C
1g.151406242C>TCA1091059POGZc.2841G>A (p.Pro947=)
c.2634G>A (p.Pro878=)
c.2793G>A (p.Pro931=)
c.2814G>A (p.Pro938=)
n.2941G>A
c.2508G>A (p.Pro836=)
c.2766G>A (p.Pro922=)
c.2661G>A (p.Pro887=)
c.2607G>A (p.Pro869=)
c.2685G>A (p.Pro895=)
c.2436G>A (p.Pro812=)
c.2667G>A (p.Pro889=)
c.1593G>A (p.Pro531=)
n.2648G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406243G>ACA1091060POGZc.2840C>T (p.Pro947Leu)
c.2633C>T (p.Pro878Leu)
c.2792C>T (p.Pro931Leu)
c.2813C>T (p.Pro938Leu)
n.2940C>T
c.2507C>T (p.Pro836Leu)
c.2765C>T (p.Pro922Leu)
c.2660C>T (p.Pro887Leu)
c.2606C>T (p.Pro869Leu)
c.2684C>T (p.Pro895Leu)
c.2435C>T (p.Pro812Leu)
c.2666C>T (p.Pro889Leu)
c.1592C>T (p.Pro531Leu)
n.2647C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406243G>CCA341948812POGZc.2840C>G (p.Pro947Arg)
c.2633C>G (p.Pro878Arg)
c.2792C>G (p.Pro931Arg)
c.2813C>G (p.Pro938Arg)
n.2940C>G
c.2507C>G (p.Pro836Arg)
c.2765C>G (p.Pro922Arg)
c.2660C>G (p.Pro887Arg)
c.2606C>G (p.Pro869Arg)
c.2684C>G (p.Pro895Arg)
c.2435C>G (p.Pro812Arg)
c.2666C>G (p.Pro889Arg)
c.1592C>G (p.Pro531Arg)
n.2647C>G
1g.151406243G=CA1143951554POGZc.2840C= (p.Pro947=)
c.2633C= (p.Pro878=)
c.2792C= (p.Pro931=)
c.2813C= (p.Pro938=)
n.2940C=
c.2507C= (p.Pro836=)
c.2765C= (p.Pro922=)
c.2660C= (p.Pro887=)
c.2606C= (p.Pro869=)
c.2684C= (p.Pro895=)
c.2435C= (p.Pro812=)
c.2666C= (p.Pro889=)
c.1592C= (p.Pro531=)
n.2647C=
1g.151406243G>TCA341948816POGZc.2840C>A (p.Pro947Gln)
c.2633C>A (p.Pro878Gln)
c.2792C>A (p.Pro931Gln)
c.2813C>A (p.Pro938Gln)
n.2940C>A
c.2507C>A (p.Pro836Gln)
c.2765C>A (p.Pro922Gln)
c.2660C>A (p.Pro887Gln)
c.2606C>A (p.Pro869Gln)
c.2684C>A (p.Pro895Gln)
c.2435C>A (p.Pro812Gln)
c.2666C>A (p.Pro889Gln)
c.1592C>A (p.Pro531Gln)
n.2647C>A
1g.151406244G>ACA341948820POGZc.2839C>T (p.Pro947Ser)
c.2632C>T (p.Pro878Ser)
c.2791C>T (p.Pro931Ser)
c.2812C>T (p.Pro938Ser)
n.2939C>T
c.2506C>T (p.Pro836Ser)
c.2764C>T (p.Pro922Ser)
c.2659C>T (p.Pro887Ser)
c.2605C>T (p.Pro869Ser)
c.2683C>T (p.Pro895Ser)
c.2434C>T (p.Pro812Ser)
c.2665C>T (p.Pro889Ser)
c.1591C>T (p.Pro531Ser)
n.2646C>T
1g.151406244G>CCA341948823POGZc.2839C>G (p.Pro947Ala)
c.2632C>G (p.Pro878Ala)
c.2791C>G (p.Pro931Ala)
c.2812C>G (p.Pro938Ala)
n.2939C>G
c.2506C>G (p.Pro836Ala)
c.2764C>G (p.Pro922Ala)
c.2659C>G (p.Pro887Ala)
c.2605C>G (p.Pro869Ala)
c.2683C>G (p.Pro895Ala)
c.2434C>G (p.Pro812Ala)
c.2665C>G (p.Pro889Ala)
c.1591C>G (p.Pro531Ala)
n.2646C>G
 gnomAD v4
1g.151406244G>TCA341948826POGZc.2839C>A (p.Pro947Thr)
c.2632C>A (p.Pro878Thr)
c.2791C>A (p.Pro931Thr)
c.2812C>A (p.Pro938Thr)
n.2939C>A
c.2506C>A (p.Pro836Thr)
c.2764C>A (p.Pro922Thr)
c.2659C>A (p.Pro887Thr)
c.2605C>A (p.Pro869Thr)
c.2683C>A (p.Pro895Thr)
c.2434C>A (p.Pro812Thr)
c.2665C>A (p.Pro889Thr)
c.1591C>A (p.Pro531Thr)
n.2646C>A
1g.151406245T>ACA420910156POGZc.2838A>T (p.Pro946=)
c.2631A>T (p.Pro877=)
c.2790A>T (p.Pro930=)
c.2811A>T (p.Pro937=)
n.2938A>T
c.2505A>T (p.Pro835=)
c.2763A>T (p.Pro921=)
c.2658A>T (p.Pro886=)
c.2604A>T (p.Pro868=)
c.2682A>T (p.Pro894=)
c.2433A>T (p.Pro811=)
c.2664A>T (p.Pro888=)
c.1590A>T (p.Pro530=)
n.2645A>T
 gnomAD v4
1g.151406245T>CCA420910157POGZc.2838A>G (p.Pro946=)
c.2631A>G (p.Pro877=)
c.2790A>G (p.Pro930=)
c.2811A>G (p.Pro937=)
n.2938A>G
c.2505A>G (p.Pro835=)
c.2763A>G (p.Pro921=)
c.2658A>G (p.Pro886=)
c.2604A>G (p.Pro868=)
c.2682A>G (p.Pro894=)
c.2433A>G (p.Pro811=)
c.2664A>G (p.Pro888=)
c.1590A>G (p.Pro530=)
n.2645A>G
1g.151406245T>GCA420910159POGZc.2838A>C (p.Pro946=)
c.2631A>C (p.Pro877=)
c.2790A>C (p.Pro930=)
c.2811A>C (p.Pro937=)
n.2938A>C
c.2505A>C (p.Pro835=)
c.2763A>C (p.Pro921=)
c.2658A>C (p.Pro886=)
c.2604A>C (p.Pro868=)
c.2682A>C (p.Pro894=)
c.2433A>C (p.Pro811=)
c.2664A>C (p.Pro888=)
c.1590A>C (p.Pro530=)
n.2645A>C
 dbSNP
1g.151406245T=CA2479570569POGZc.2838A= (p.Pro946=)
c.2631A= (p.Pro877=)
c.2790A= (p.Pro930=)
c.2811A= (p.Pro937=)
n.2938A=
c.2505A= (p.Pro835=)
c.2763A= (p.Pro921=)
c.2658A= (p.Pro886=)
c.2604A= (p.Pro868=)
c.2682A= (p.Pro894=)
c.2433A= (p.Pro811=)
c.2664A= (p.Pro888=)
c.1590A= (p.Pro530=)
n.2645A=
1g.151406246G>ACA1091062POGZc.2837C>T (p.Pro946Leu)
c.2630C>T (p.Pro877Leu)
c.2789C>T (p.Pro930Leu)
c.2810C>T (p.Pro937Leu)
n.2937C>T
c.2504C>T (p.Pro835Leu)
c.2762C>T (p.Pro921Leu)
c.2657C>T (p.Pro886Leu)
c.2603C>T (p.Pro868Leu)
c.2681C>T (p.Pro894Leu)
c.2432C>T (p.Pro811Leu)
c.2663C>T (p.Pro888Leu)
c.1589C>T (p.Pro530Leu)
n.2644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406246G>CCA1091061POGZc.2837C>G (p.Pro946Arg)
c.2630C>G (p.Pro877Arg)
c.2789C>G (p.Pro930Arg)
c.2810C>G (p.Pro937Arg)
n.2937C>G
c.2504C>G (p.Pro835Arg)
c.2762C>G (p.Pro921Arg)
c.2657C>G (p.Pro886Arg)
c.2603C>G (p.Pro868Arg)
c.2681C>G (p.Pro894Arg)
c.2432C>G (p.Pro811Arg)
c.2663C>G (p.Pro888Arg)
c.1589C>G (p.Pro530Arg)
n.2644C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406246G=CA1142061475POGZc.2837C= (p.Pro946=)
c.2630C= (p.Pro877=)
c.2789C= (p.Pro930=)
c.2810C= (p.Pro937=)
n.2937C=
c.2504C= (p.Pro835=)
c.2762C= (p.Pro921=)
c.2657C= (p.Pro886=)
c.2603C= (p.Pro868=)
c.2681C= (p.Pro894=)
c.2432C= (p.Pro811=)
c.2663C= (p.Pro888=)
c.1589C= (p.Pro530=)
n.2644C=
1g.151406246G>TCA341948837POGZc.2837C>A (p.Pro946Gln)
c.2630C>A (p.Pro877Gln)
c.2789C>A (p.Pro930Gln)
c.2810C>A (p.Pro937Gln)
n.2937C>A
c.2504C>A (p.Pro835Gln)
c.2762C>A (p.Pro921Gln)
c.2657C>A (p.Pro886Gln)
c.2603C>A (p.Pro868Gln)
c.2681C>A (p.Pro894Gln)
c.2432C>A (p.Pro811Gln)
c.2663C>A (p.Pro888Gln)
c.1589C>A (p.Pro530Gln)
n.2644C>A
1g.151406247G>ACA341948839POGZc.2836C>T (p.Pro946Ser)
c.2629C>T (p.Pro877Ser)
c.2788C>T (p.Pro930Ser)
c.2809C>T (p.Pro937Ser)
n.2936C>T
c.2503C>T (p.Pro835Ser)
c.2761C>T (p.Pro921Ser)
c.2656C>T (p.Pro886Ser)
c.2602C>T (p.Pro868Ser)
c.2680C>T (p.Pro894Ser)
c.2431C>T (p.Pro811Ser)
c.2662C>T (p.Pro888Ser)
c.1588C>T (p.Pro530Ser)
n.2643C>T
1g.151406247G>CCA341948842POGZc.2836C>G (p.Pro946Ala)
c.2629C>G (p.Pro877Ala)
c.2788C>G (p.Pro930Ala)
c.2809C>G (p.Pro937Ala)
n.2936C>G
c.2503C>G (p.Pro835Ala)
c.2761C>G (p.Pro921Ala)
c.2656C>G (p.Pro886Ala)
c.2602C>G (p.Pro868Ala)
c.2680C>G (p.Pro894Ala)
c.2431C>G (p.Pro811Ala)
c.2662C>G (p.Pro888Ala)
c.1588C>G (p.Pro530Ala)
n.2643C>G
1g.151406247G>TCA341948844POGZc.2836C>A (p.Pro946Thr)
c.2629C>A (p.Pro877Thr)
c.2788C>A (p.Pro930Thr)
c.2809C>A (p.Pro937Thr)
n.2936C>A
c.2503C>A (p.Pro835Thr)
c.2761C>A (p.Pro921Thr)
c.2656C>A (p.Pro886Thr)
c.2602C>A (p.Pro868Thr)
c.2680C>A (p.Pro894Thr)
c.2431C>A (p.Pro811Thr)
c.2662C>A (p.Pro888Thr)
c.1588C>A (p.Pro530Thr)
n.2643C>A
1g.151406248A>CCA420910165POGZc.2835T>G (p.Leu945=)
c.2628T>G (p.Leu876=)
c.2787T>G (p.Leu929=)
c.2808T>G (p.Leu936=)
n.2935T>G
c.2502T>G (p.Leu834=)
c.2760T>G (p.Leu920=)
c.2655T>G (p.Leu885=)
c.2601T>G (p.Leu867=)
c.2679T>G (p.Leu893=)
c.2430T>G (p.Leu810=)
c.2661T>G (p.Leu887=)
c.1587T>G (p.Leu529=)
n.2642T>G
1g.151406248A>GCA420910166POGZc.2835T>C (p.Leu945=)
c.2628T>C (p.Leu876=)
c.2787T>C (p.Leu929=)
c.2808T>C (p.Leu936=)
n.2935T>C
c.2502T>C (p.Leu834=)
c.2760T>C (p.Leu920=)
c.2655T>C (p.Leu885=)
c.2601T>C (p.Leu867=)
c.2679T>C (p.Leu893=)
c.2430T>C (p.Leu810=)
c.2661T>C (p.Leu887=)
c.1587T>C (p.Leu529=)
n.2642T>C
1g.151406248A>TCA420910168POGZc.2835T>A (p.Leu945=)
c.2628T>A (p.Leu876=)
c.2787T>A (p.Leu929=)
c.2808T>A (p.Leu936=)
n.2935T>A
c.2502T>A (p.Leu834=)
c.2760T>A (p.Leu920=)
c.2655T>A (p.Leu885=)
c.2601T>A (p.Leu867=)
c.2679T>A (p.Leu893=)
c.2430T>A (p.Leu810=)
c.2661T>A (p.Leu887=)
c.1587T>A (p.Leu529=)
n.2642T>A
1g.151406249A=CA2479570570POGZc.2834T= (p.Leu945=)
c.2627T= (p.Leu876=)
c.2786T= (p.Leu929=)
c.2807T= (p.Leu936=)
n.2934T=
c.2501T= (p.Leu834=)
c.2759T= (p.Leu920=)
c.2654T= (p.Leu885=)
c.2600T= (p.Leu867=)
c.2678T= (p.Leu893=)
c.2429T= (p.Leu810=)
c.2660T= (p.Leu887=)
c.1586T= (p.Leu529=)
n.2641T=
1g.151406249A>CCA341948850POGZc.2834T>G (p.Leu945Arg)
c.2627T>G (p.Leu876Arg)
c.2786T>G (p.Leu929Arg)
c.2807T>G (p.Leu936Arg)
n.2934T>G
c.2501T>G (p.Leu834Arg)
c.2759T>G (p.Leu920Arg)
c.2654T>G (p.Leu885Arg)
c.2600T>G (p.Leu867Arg)
c.2678T>G (p.Leu893Arg)
c.2429T>G (p.Leu810Arg)
c.2660T>G (p.Leu887Arg)
c.1586T>G (p.Leu529Arg)
n.2641T>G
1g.151406249A>GCA341948845POGZc.2834T>C (p.Leu945Pro)
c.2627T>C (p.Leu876Pro)
c.2786T>C (p.Leu929Pro)
c.2807T>C (p.Leu936Pro)
n.2934T>C
c.2501T>C (p.Leu834Pro)
c.2759T>C (p.Leu920Pro)
c.2654T>C (p.Leu885Pro)
c.2600T>C (p.Leu867Pro)
c.2678T>C (p.Leu893Pro)
c.2429T>C (p.Leu810Pro)
c.2660T>C (p.Leu887Pro)
c.1586T>C (p.Leu529Pro)
n.2641T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406249A>TCA341948848POGZc.2834T>A (p.Leu945His)
c.2627T>A (p.Leu876His)
c.2786T>A (p.Leu929His)
c.2807T>A (p.Leu936His)
n.2934T>A
c.2501T>A (p.Leu834His)
c.2759T>A (p.Leu920His)
c.2654T>A (p.Leu885His)
c.2600T>A (p.Leu867His)
c.2678T>A (p.Leu893His)
c.2429T>A (p.Leu810His)
c.2660T>A (p.Leu887His)
c.1586T>A (p.Leu529His)
n.2641T>A
1g.151406250G>ACA341948854POGZc.2833C>T (p.Leu945Phe)
c.2626C>T (p.Leu876Phe)
c.2785C>T (p.Leu929Phe)
c.2806C>T (p.Leu936Phe)
n.2933C>T
c.2500C>T (p.Leu834Phe)
c.2758C>T (p.Leu920Phe)
c.2653C>T (p.Leu885Phe)
c.2599C>T (p.Leu867Phe)
c.2677C>T (p.Leu893Phe)
c.2428C>T (p.Leu810Phe)
c.2659C>T (p.Leu887Phe)
c.1585C>T (p.Leu529Phe)
n.2640C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406250G>CCA341948855POGZc.2833C>G (p.Leu945Val)
c.2626C>G (p.Leu876Val)
c.2785C>G (p.Leu929Val)
c.2806C>G (p.Leu936Val)
n.2933C>G
c.2500C>G (p.Leu834Val)
c.2758C>G (p.Leu920Val)
c.2653C>G (p.Leu885Val)
c.2599C>G (p.Leu867Val)
c.2677C>G (p.Leu893Val)
c.2428C>G (p.Leu810Val)
c.2659C>G (p.Leu887Val)
c.1585C>G (p.Leu529Val)
n.2640C>G
1g.151406250G=CA2479570571POGZc.2833C= (p.Leu945=)
c.2626C= (p.Leu876=)
c.2785C= (p.Leu929=)
c.2806C= (p.Leu936=)
n.2933C=
c.2500C= (p.Leu834=)
c.2758C= (p.Leu920=)
c.2653C= (p.Leu885=)
c.2599C= (p.Leu867=)
c.2677C= (p.Leu893=)
c.2428C= (p.Leu810=)
c.2659C= (p.Leu887=)
c.1585C= (p.Leu529=)
n.2640C=
1g.151406250G>TCA341948859POGZc.2833C>A (p.Leu945Ile)
c.2626C>A (p.Leu876Ile)
c.2785C>A (p.Leu929Ile)
c.2806C>A (p.Leu936Ile)
n.2933C>A
c.2500C>A (p.Leu834Ile)
c.2758C>A (p.Leu920Ile)
c.2653C>A (p.Leu885Ile)
c.2599C>A (p.Leu867Ile)
c.2677C>A (p.Leu893Ile)
c.2428C>A (p.Leu810Ile)
c.2659C>A (p.Leu887Ile)
c.1585C>A (p.Leu529Ile)
n.2640C>A
1g.151406251G>ACA420910175POGZc.2832C>T (p.Ala944=)
c.2625C>T (p.Ala875=)
c.2784C>T (p.Ala928=)
c.2805C>T (p.Ala935=)
n.2932C>T
c.2499C>T (p.Ala833=)
c.2757C>T (p.Ala919=)
c.2652C>T (p.Ala884=)
c.2598C>T (p.Ala866=)
c.2676C>T (p.Ala892=)
c.2427C>T (p.Ala809=)
c.2658C>T (p.Ala886=)
c.1584C>T (p.Ala528=)
n.2639C>T
 gnomAD v4
1g.151406251G>CCA420910176POGZc.2832C>G (p.Ala944=)
c.2625C>G (p.Ala875=)
c.2784C>G (p.Ala928=)
c.2805C>G (p.Ala935=)
n.2932C>G
c.2499C>G (p.Ala833=)
c.2757C>G (p.Ala919=)
c.2652C>G (p.Ala884=)
c.2598C>G (p.Ala866=)
c.2676C>G (p.Ala892=)
c.2427C>G (p.Ala809=)
c.2658C>G (p.Ala886=)
c.1584C>G (p.Ala528=)
n.2639C>G
1g.151406251G>TCA420910177POGZc.2832C>A (p.Ala944=)
c.2625C>A (p.Ala875=)
c.2784C>A (p.Ala928=)
c.2805C>A (p.Ala935=)
n.2932C>A
c.2499C>A (p.Ala833=)
c.2757C>A (p.Ala919=)
c.2652C>A (p.Ala884=)
c.2598C>A (p.Ala866=)
c.2676C>A (p.Ala892=)
c.2427C>A (p.Ala809=)
c.2658C>A (p.Ala886=)
c.1584C>A (p.Ala528=)
n.2639C>A
1g.151406252G>ACA341948864POGZc.2831C>T (p.Ala944Val)
c.2624C>T (p.Ala875Val)
c.2783C>T (p.Ala928Val)
c.2804C>T (p.Ala935Val)
n.2931C>T
c.2498C>T (p.Ala833Val)
c.2756C>T (p.Ala919Val)
c.2651C>T (p.Ala884Val)
c.2597C>T (p.Ala866Val)
c.2675C>T (p.Ala892Val)
c.2426C>T (p.Ala809Val)
c.2657C>T (p.Ala886Val)
c.1583C>T (p.Ala528Val)
n.2638C>T
1g.151406252G>CCA341948867POGZc.2831C>G (p.Ala944Gly)
c.2624C>G (p.Ala875Gly)
c.2783C>G (p.Ala928Gly)
c.2804C>G (p.Ala935Gly)
n.2931C>G
c.2498C>G (p.Ala833Gly)
c.2756C>G (p.Ala919Gly)
c.2651C>G (p.Ala884Gly)
c.2597C>G (p.Ala866Gly)
c.2675C>G (p.Ala892Gly)
c.2426C>G (p.Ala809Gly)
c.2657C>G (p.Ala886Gly)
c.1583C>G (p.Ala528Gly)
n.2638C>G
1g.151406252G=CA2479570572POGZc.2831C= (p.Ala944=)
c.2624C= (p.Ala875=)
c.2783C= (p.Ala928=)
c.2804C= (p.Ala935=)
n.2931C=
c.2498C= (p.Ala833=)
c.2756C= (p.Ala919=)
c.2651C= (p.Ala884=)
c.2597C= (p.Ala866=)
c.2675C= (p.Ala892=)
c.2426C= (p.Ala809=)
c.2657C= (p.Ala886=)
c.1583C= (p.Ala528=)
n.2638C=
1g.151406252G>TCA29569346POGZc.2831C>A (p.Ala944Asp)
c.2624C>A (p.Ala875Asp)
c.2783C>A (p.Ala928Asp)
c.2804C>A (p.Ala935Asp)
n.2931C>A
c.2498C>A (p.Ala833Asp)
c.2756C>A (p.Ala919Asp)
c.2651C>A (p.Ala884Asp)
c.2597C>A (p.Ala866Asp)
c.2675C>A (p.Ala892Asp)
c.2426C>A (p.Ala809Asp)
c.2657C>A (p.Ala886Asp)
c.1583C>A (p.Ala528Asp)
n.2638C>A
 dbSNP gnomAD v4
1g.151406253C>ACA341948873POGZc.2830G>T (p.Ala944Ser)
c.2623G>T (p.Ala875Ser)
c.2782G>T (p.Ala928Ser)
c.2803G>T (p.Ala935Ser)
n.2930G>T
c.2497G>T (p.Ala833Ser)
c.2755G>T (p.Ala919Ser)
c.2650G>T (p.Ala884Ser)
c.2596G>T (p.Ala866Ser)
c.2674G>T (p.Ala892Ser)
c.2425G>T (p.Ala809Ser)
c.2656G>T (p.Ala886Ser)
c.1582G>T (p.Ala528Ser)
n.2637G>T
1g.151406253C=CA2479570573POGZc.2830G= (p.Ala944=)
c.2623G= (p.Ala875=)
c.2782G= (p.Ala928=)
c.2803G= (p.Ala935=)
n.2930G=
c.2497G= (p.Ala833=)
c.2755G= (p.Ala919=)
c.2650G= (p.Ala884=)
c.2596G= (p.Ala866=)
c.2674G= (p.Ala892=)
c.2425G= (p.Ala809=)
c.2656G= (p.Ala886=)
c.1582G= (p.Ala528=)
n.2637G=
1g.151406253C>GCA341948875POGZc.2830G>C (p.Ala944Pro)
c.2623G>C (p.Ala875Pro)
c.2782G>C (p.Ala928Pro)
c.2803G>C (p.Ala935Pro)
n.2930G>C
c.2497G>C (p.Ala833Pro)
c.2755G>C (p.Ala919Pro)
c.2650G>C (p.Ala884Pro)
c.2596G>C (p.Ala866Pro)
c.2674G>C (p.Ala892Pro)
c.2425G>C (p.Ala809Pro)
c.2656G>C (p.Ala886Pro)
c.1582G>C (p.Ala528Pro)
n.2637G>C
1g.151406253C>TCA341948878POGZc.2830G>A (p.Ala944Thr)
c.2623G>A (p.Ala875Thr)
c.2782G>A (p.Ala928Thr)
c.2803G>A (p.Ala935Thr)
n.2930G>A
c.2497G>A (p.Ala833Thr)
c.2755G>A (p.Ala919Thr)
c.2650G>A (p.Ala884Thr)
c.2596G>A (p.Ala866Thr)
c.2674G>A (p.Ala892Thr)
c.2425G>A (p.Ala809Thr)
c.2656G>A (p.Ala886Thr)
c.1582G>A (p.Ala528Thr)
n.2637G>A
1g.151406254T>ACA341948880POGZc.2829A>T (p.Leu943Phe)
c.2622A>T (p.Leu874Phe)
c.2781A>T (p.Leu927Phe)
c.2802A>T (p.Leu934Phe)
n.2929A>T
c.2496A>T (p.Leu832Phe)
c.2754A>T (p.Leu918Phe)
c.2649A>T (p.Leu883Phe)
c.2595A>T (p.Leu865Phe)
c.2673A>T (p.Leu891Phe)
c.2424A>T (p.Leu808Phe)
c.2655A>T (p.Leu885Phe)
c.1581A>T (p.Leu527Phe)
n.2636A>T
 gnomAD v4
1g.151406254T>CCA420910185POGZc.2829A>G (p.Leu943=)
c.2622A>G (p.Leu874=)
c.2781A>G (p.Leu927=)
c.2802A>G (p.Leu934=)
n.2929A>G
c.2496A>G (p.Leu832=)
c.2754A>G (p.Leu918=)
c.2649A>G (p.Leu883=)
c.2595A>G (p.Leu865=)
c.2673A>G (p.Leu891=)
c.2424A>G (p.Leu808=)
c.2655A>G (p.Leu885=)
c.1581A>G (p.Leu527=)
n.2636A>G
1g.151406254T>GCA341948882POGZc.2829A>C (p.Leu943Phe)
c.2622A>C (p.Leu874Phe)
c.2781A>C (p.Leu927Phe)
c.2802A>C (p.Leu934Phe)
n.2929A>C
c.2496A>C (p.Leu832Phe)
c.2754A>C (p.Leu918Phe)
c.2649A>C (p.Leu883Phe)
c.2595A>C (p.Leu865Phe)
c.2673A>C (p.Leu891Phe)
c.2424A>C (p.Leu808Phe)
c.2655A>C (p.Leu885Phe)
c.1581A>C (p.Leu527Phe)
n.2636A>C
1g.151406254T=CA2479570574POGZc.2829A= (p.Leu943=)
c.2622A= (p.Leu874=)
c.2781A= (p.Leu927=)
c.2802A= (p.Leu934=)
n.2929A=
c.2496A= (p.Leu832=)
c.2754A= (p.Leu918=)
c.2649A= (p.Leu883=)
c.2595A= (p.Leu865=)
c.2673A= (p.Leu891=)
c.2424A= (p.Leu808=)
c.2655A= (p.Leu885=)
c.1581A= (p.Leu527=)
n.2636A=
1g.151406254dupCA915941413POGZc.2829dup (p.Ala944SerfsTer16)
c.2622dup (p.Ala875SerfsTer16)
c.2781dup (p.Ala928SerfsTer16)
c.2802dup (p.Ala935SerfsTer16)
n.2929dup
c.2496dup (p.Ala833SerfsTer16)
c.2754dup (p.Ala919SerfsTer16)
c.2649dup (p.Ala884SerfsTer16)
c.2595dup (p.Ala866SerfsTer16)
c.2673dup (p.Ala892SerfsTer16)
c.2424dup (p.Ala809SerfsTer16)
c.2655dup (p.Ala886SerfsTer16)
c.1581dup (p.Ala528SerfsTer16)
n.2636dup
 ClinVar dbSNP
1g.151406255A>CCA341948893POGZc.2828T>G (p.Leu943Ter)
c.2621T>G (p.Leu874Ter)
c.2780T>G (p.Leu927Ter)
c.2801T>G (p.Leu934Ter)
n.2928T>G
c.2495T>G (p.Leu832Ter)
c.2753T>G (p.Leu918Ter)
c.2648T>G (p.Leu883Ter)
c.2594T>G (p.Leu865Ter)
c.2672T>G (p.Leu891Ter)
c.2423T>G (p.Leu808Ter)
c.2654T>G (p.Leu885Ter)
c.1580T>G (p.Leu527Ter)
n.2635T>G
1g.151406255A>GCA341948890POGZc.2828T>C (p.Leu943Ser)
c.2621T>C (p.Leu874Ser)
c.2780T>C (p.Leu927Ser)
c.2801T>C (p.Leu934Ser)
n.2928T>C
c.2495T>C (p.Leu832Ser)
c.2753T>C (p.Leu918Ser)
c.2648T>C (p.Leu883Ser)
c.2594T>C (p.Leu865Ser)
c.2672T>C (p.Leu891Ser)
c.2423T>C (p.Leu808Ser)
c.2654T>C (p.Leu885Ser)
c.1580T>C (p.Leu527Ser)
n.2635T>C
1g.151406255A>TCA341948887POGZc.2828T>A (p.Leu943Ter)
c.2621T>A (p.Leu874Ter)
c.2780T>A (p.Leu927Ter)
c.2801T>A (p.Leu934Ter)
n.2928T>A
c.2495T>A (p.Leu832Ter)
c.2753T>A (p.Leu918Ter)
c.2648T>A (p.Leu883Ter)
c.2594T>A (p.Leu865Ter)
c.2672T>A (p.Leu891Ter)
c.2423T>A (p.Leu808Ter)
c.2654T>A (p.Leu885Ter)
c.1580T>A (p.Leu527Ter)
n.2635T>A
1g.151406257dupCA347939POGZc.2828dup (p.Leu943PhefsTer17)
c.2621dup (p.Leu874PhefsTer17)
c.2780dup (p.Leu927PhefsTer17)
c.2801dup (p.Leu934PhefsTer17)
n.2928dup
c.2495dup (p.Leu832PhefsTer17)
c.2753dup (p.Leu918PhefsTer17)
c.2648dup (p.Leu883PhefsTer17)
c.2594dup (p.Leu865PhefsTer17)
c.2672dup (p.Leu891PhefsTer17)
c.2423dup (p.Leu808PhefsTer17)
c.2654dup (p.Leu885PhefsTer17)
c.1580dup (p.Leu527PhefsTer17)
n.2635dup
 ClinVar dbSNP
1g.151406256A>CCA341948894POGZc.2827T>G (p.Leu943Val)
c.2620T>G (p.Leu874Val)
c.2779T>G (p.Leu927Val)
c.2800T>G (p.Leu934Val)
n.2927T>G
c.2494T>G (p.Leu832Val)
c.2752T>G (p.Leu918Val)
c.2647T>G (p.Leu883Val)
c.2593T>G (p.Leu865Val)
c.2671T>G (p.Leu891Val)
c.2422T>G (p.Leu808Val)
c.2653T>G (p.Leu885Val)
c.1579T>G (p.Leu527Val)
n.2634T>G
1g.151406256A>GCA420910189POGZc.2827T>C (p.Leu943=)
c.2620T>C (p.Leu874=)
c.2779T>C (p.Leu927=)
c.2800T>C (p.Leu934=)
n.2927T>C
c.2494T>C (p.Leu832=)
c.2752T>C (p.Leu918=)
c.2647T>C (p.Leu883=)
c.2593T>C (p.Leu865=)
c.2671T>C (p.Leu891=)
c.2422T>C (p.Leu808=)
c.2653T>C (p.Leu885=)
c.1579T>C (p.Leu527=)
n.2634T>C
1g.151406256A>TCA341948895POGZc.2827T>A (p.Leu943Ile)
c.2620T>A (p.Leu874Ile)
c.2779T>A (p.Leu927Ile)
c.2800T>A (p.Leu934Ile)
n.2927T>A
c.2494T>A (p.Leu832Ile)
c.2752T>A (p.Leu918Ile)
c.2647T>A (p.Leu883Ile)
c.2593T>A (p.Leu865Ile)
c.2671T>A (p.Leu891Ile)
c.2422T>A (p.Leu808Ile)
c.2653T>A (p.Leu885Ile)
c.1579T>A (p.Leu527Ile)
n.2634T>A
1g.151406257A>CCA420910196POGZc.2826T>G (p.Ala942=)
c.2619T>G (p.Ala873=)
c.2778T>G (p.Ala926=)
c.2799T>G (p.Ala933=)
n.2926T>G
c.2493T>G (p.Ala831=)
c.2751T>G (p.Ala917=)
c.2646T>G (p.Ala882=)
c.2592T>G (p.Ala864=)
c.2670T>G (p.Ala890=)
c.2421T>G (p.Ala807=)
c.2652T>G (p.Ala884=)
c.1578T>G (p.Ala526=)
n.2633T>G
1g.151406257A>GCA420910198POGZc.2826T>C (p.Ala942=)
c.2619T>C (p.Ala873=)
c.2778T>C (p.Ala926=)
c.2799T>C (p.Ala933=)
n.2926T>C
c.2493T>C (p.Ala831=)
c.2751T>C (p.Ala917=)
c.2646T>C (p.Ala882=)
c.2592T>C (p.Ala864=)
c.2670T>C (p.Ala890=)
c.2421T>C (p.Ala807=)
c.2652T>C (p.Ala884=)
c.1578T>C (p.Ala526=)
n.2633T>C
 gnomAD v4
1g.151406257A>TCA420910201POGZc.2826T>A (p.Ala942=)
c.2619T>A (p.Ala873=)
c.2778T>A (p.Ala926=)
c.2799T>A (p.Ala933=)
n.2926T>A
c.2493T>A (p.Ala831=)
c.2751T>A (p.Ala917=)
c.2646T>A (p.Ala882=)
c.2592T>A (p.Ala864=)
c.2670T>A (p.Ala890=)
c.2421T>A (p.Ala807=)
c.2652T>A (p.Ala884=)
c.1578T>A (p.Ala526=)
n.2633T>A
1g.151406258G>ACA341948900POGZc.2825C>T (p.Ala942Val)
c.2618C>T (p.Ala873Val)
c.2777C>T (p.Ala926Val)
c.2798C>T (p.Ala933Val)
n.2925C>T
c.2492C>T (p.Ala831Val)
c.2750C>T (p.Ala917Val)
c.2645C>T (p.Ala882Val)
c.2591C>T (p.Ala864Val)
c.2669C>T (p.Ala890Val)
c.2420C>T (p.Ala807Val)
c.2651C>T (p.Ala884Val)
c.1577C>T (p.Ala526Val)
n.2632C>T
1g.151406258G>CCA341948903POGZc.2825C>G (p.Ala942Gly)
c.2618C>G (p.Ala873Gly)
c.2777C>G (p.Ala926Gly)
c.2798C>G (p.Ala933Gly)
n.2925C>G
c.2492C>G (p.Ala831Gly)
c.2750C>G (p.Ala917Gly)
c.2645C>G (p.Ala882Gly)
c.2591C>G (p.Ala864Gly)
c.2669C>G (p.Ala890Gly)
c.2420C>G (p.Ala807Gly)
c.2651C>G (p.Ala884Gly)
c.1577C>G (p.Ala526Gly)
n.2632C>G
1g.151406258G>TCA341948906POGZc.2825C>A (p.Ala942Asp)
c.2618C>A (p.Ala873Asp)
c.2777C>A (p.Ala926Asp)
c.2798C>A (p.Ala933Asp)
n.2925C>A
c.2492C>A (p.Ala831Asp)
c.2750C>A (p.Ala917Asp)
c.2645C>A (p.Ala882Asp)
c.2591C>A (p.Ala864Asp)
c.2669C>A (p.Ala890Asp)
c.2420C>A (p.Ala807Asp)
c.2651C>A (p.Ala884Asp)
c.1577C>A (p.Ala526Asp)
n.2632C>A
1g.151406259C>ACA341948914POGZc.2824G>T (p.Ala942Ser)
c.2617G>T (p.Ala873Ser)
c.2776G>T (p.Ala926Ser)
c.2797G>T (p.Ala933Ser)
n.2924G>T
c.2491G>T (p.Ala831Ser)
c.2749G>T (p.Ala917Ser)
c.2644G>T (p.Ala882Ser)
c.2590G>T (p.Ala864Ser)
c.2668G>T (p.Ala890Ser)
c.2419G>T (p.Ala807Ser)
c.2650G>T (p.Ala884Ser)
c.1576G>T (p.Ala526Ser)
n.2631G>T
 ClinVar
1g.151406259C=CA2479570575POGZc.2824G= (p.Ala942=)
c.2617G= (p.Ala873=)
c.2776G= (p.Ala926=)
c.2797G= (p.Ala933=)
n.2924G=
c.2491G= (p.Ala831=)
c.2749G= (p.Ala917=)
c.2644G= (p.Ala882=)
c.2590G= (p.Ala864=)
c.2668G= (p.Ala890=)
c.2419G= (p.Ala807=)
c.2650G= (p.Ala884=)
c.1576G= (p.Ala526=)
n.2631G=
1g.151406259C>GCA341948920POGZc.2824G>C (p.Ala942Pro)
c.2617G>C (p.Ala873Pro)
c.2776G>C (p.Ala926Pro)
c.2797G>C (p.Ala933Pro)
n.2924G>C
c.2491G>C (p.Ala831Pro)
c.2749G>C (p.Ala917Pro)
c.2644G>C (p.Ala882Pro)
c.2590G>C (p.Ala864Pro)
c.2668G>C (p.Ala890Pro)
c.2419G>C (p.Ala807Pro)
c.2650G>C (p.Ala884Pro)
c.1576G>C (p.Ala526Pro)
n.2631G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151406259C>TCA341948924POGZc.2824G>A (p.Ala942Thr)
c.2617G>A (p.Ala873Thr)
c.2776G>A (p.Ala926Thr)
c.2797G>A (p.Ala933Thr)
n.2924G>A
c.2491G>A (p.Ala831Thr)
c.2749G>A (p.Ala917Thr)
c.2644G>A (p.Ala882Thr)
c.2590G>A (p.Ala864Thr)
c.2668G>A (p.Ala890Thr)
c.2419G>A (p.Ala807Thr)
c.2650G>A (p.Ala884Thr)
c.1576G>A (p.Ala526Thr)
n.2631G>A
1g.151406260C>ACA341948930POGZc.2823G>T (p.Gln941His)
c.2616G>T (p.Gln872His)
c.2775G>T (p.Gln925His)
c.2796G>T (p.Gln932His)
n.2923G>T
c.2490G>T (p.Gln830His)
c.2748G>T (p.Gln916His)
c.2643G>T (p.Gln881His)
c.2589G>T (p.Gln863His)
c.2667G>T (p.Gln889His)
c.2418G>T (p.Gln806His)
c.2649G>T (p.Gln883His)
c.1575G>T (p.Gln525His)
n.2630G>T
1g.151406260C=CA2479570576POGZc.2823G= (p.Gln941=)
c.2616G= (p.Gln872=)
c.2775G= (p.Gln925=)
c.2796G= (p.Gln932=)
n.2923G=
c.2490G= (p.Gln830=)
c.2748G= (p.Gln916=)
c.2643G= (p.Gln881=)
c.2589G= (p.Gln863=)
c.2667G= (p.Gln889=)
c.2418G= (p.Gln806=)
c.2649G= (p.Gln883=)
c.1575G= (p.Gln525=)
n.2630G=
1g.151406260C>GCA29569352POGZc.2823G>C (p.Gln941His)
c.2616G>C (p.Gln872His)
c.2775G>C (p.Gln925His)
c.2796G>C (p.Gln932His)
n.2923G>C
c.2490G>C (p.Gln830His)
c.2748G>C (p.Gln916His)
c.2643G>C (p.Gln881His)
c.2589G>C (p.Gln863His)
c.2667G>C (p.Gln889His)
c.2418G>C (p.Gln806His)
c.2649G>C (p.Gln883His)
c.1575G>C (p.Gln525His)
n.2630G>C
 dbSNP gnomAD v3 gnomAD v4
1g.151406260C>TCA420910206POGZc.2823G>A (p.Gln941=)
c.2616G>A (p.Gln872=)
c.2775G>A (p.Gln925=)
c.2796G>A (p.Gln932=)
n.2923G>A
c.2490G>A (p.Gln830=)
c.2748G>A (p.Gln916=)
c.2643G>A (p.Gln881=)
c.2589G>A (p.Gln863=)
c.2667G>A (p.Gln889=)
c.2418G>A (p.Gln806=)
c.2649G>A (p.Gln883=)
c.1575G>A (p.Gln525=)
n.2630G>A
 gnomAD v4
1g.151406261T>ACA341948939POGZc.2822A>T (p.Gln941Leu)
c.2615A>T (p.Gln872Leu)
c.2774A>T (p.Gln925Leu)
c.2795A>T (p.Gln932Leu)
n.2922A>T
c.2489A>T (p.Gln830Leu)
c.2747A>T (p.Gln916Leu)
c.2642A>T (p.Gln881Leu)
c.2588A>T (p.Gln863Leu)
c.2666A>T (p.Gln889Leu)
c.2417A>T (p.Gln806Leu)
c.2648A>T (p.Gln883Leu)
c.1574A>T (p.Gln525Leu)
n.2629A>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406261T>CCA341948947POGZc.2822A>G (p.Gln941Arg)
c.2615A>G (p.Gln872Arg)
c.2774A>G (p.Gln925Arg)
c.2795A>G (p.Gln932Arg)
n.2922A>G
c.2489A>G (p.Gln830Arg)
c.2747A>G (p.Gln916Arg)
c.2642A>G (p.Gln881Arg)
c.2588A>G (p.Gln863Arg)
c.2666A>G (p.Gln889Arg)
c.2417A>G (p.Gln806Arg)
c.2648A>G (p.Gln883Arg)
c.1574A>G (p.Gln525Arg)
n.2629A>G
1g.151406261T>GCA341948951POGZc.2822A>C (p.Gln941Pro)
c.2615A>C (p.Gln872Pro)
c.2774A>C (p.Gln925Pro)
c.2795A>C (p.Gln932Pro)
n.2922A>C
c.2489A>C (p.Gln830Pro)
c.2747A>C (p.Gln916Pro)
c.2642A>C (p.Gln881Pro)
c.2588A>C (p.Gln863Pro)
c.2666A>C (p.Gln889Pro)
c.2417A>C (p.Gln806Pro)
c.2648A>C (p.Gln883Pro)
c.1574A>C (p.Gln525Pro)
n.2629A>C
1g.151406261T=CA2479570577POGZc.2822A= (p.Gln941=)
c.2615A= (p.Gln872=)
c.2774A= (p.Gln925=)
c.2795A= (p.Gln932=)
n.2922A=
c.2489A= (p.Gln830=)
c.2747A= (p.Gln916=)
c.2642A= (p.Gln881=)
c.2588A= (p.Gln863=)
c.2666A= (p.Gln889=)
c.2417A= (p.Gln806=)
c.2648A= (p.Gln883=)
c.1574A= (p.Gln525=)
n.2629A=
1g.151406262G>ACA341948955POGZc.2821C>T (p.Gln941Ter)
c.2614C>T (p.Gln872Ter)
c.2773C>T (p.Gln925Ter)
c.2794C>T (p.Gln932Ter)
n.2921C>T
c.2488C>T (p.Gln830Ter)
c.2746C>T (p.Gln916Ter)
c.2641C>T (p.Gln881Ter)
c.2587C>T (p.Gln863Ter)
c.2665C>T (p.Gln889Ter)
c.2416C>T (p.Gln806Ter)
c.2647C>T (p.Gln883Ter)
c.1573C>T (p.Gln525Ter)
n.2628C>T
1g.151406262G>CCA341948953POGZc.2821C>G (p.Gln941Glu)
c.2614C>G (p.Gln872Glu)
c.2773C>G (p.Gln925Glu)
c.2794C>G (p.Gln932Glu)
n.2921C>G
c.2488C>G (p.Gln830Glu)
c.2746C>G (p.Gln916Glu)
c.2641C>G (p.Gln881Glu)
c.2587C>G (p.Gln863Glu)
c.2665C>G (p.Gln889Glu)
c.2416C>G (p.Gln806Glu)
c.2647C>G (p.Gln883Glu)
c.1573C>G (p.Gln525Glu)
n.2628C>G
1g.151406262G>TCA341948952POGZc.2821C>A (p.Gln941Lys)
c.2614C>A (p.Gln872Lys)
c.2773C>A (p.Gln925Lys)
c.2794C>A (p.Gln932Lys)
n.2921C>A
c.2488C>A (p.Gln830Lys)
c.2746C>A (p.Gln916Lys)
c.2641C>A (p.Gln881Lys)
c.2587C>A (p.Gln863Lys)
c.2665C>A (p.Gln889Lys)
c.2416C>A (p.Gln806Lys)
c.2647C>A (p.Gln883Lys)
c.1573C>A (p.Gln525Lys)
n.2628C>A
1g.151406263C>ACA1091063POGZc.2820G>T (p.Pro940=)
c.2613G>T (p.Pro871=)
c.2772G>T (p.Pro924=)
c.2793G>T (p.Pro931=)
n.2920G>T
c.2487G>T (p.Pro829=)
c.2745G>T (p.Pro915=)
c.2640G>T (p.Pro880=)
c.2586G>T (p.Pro862=)
c.2664G>T (p.Pro888=)
c.2415G>T (p.Pro805=)
c.2646G>T (p.Pro882=)
c.1572G>T (p.Pro524=)
n.2627G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406263C=CA2479570578POGZc.2820G= (p.Pro940=)
c.2613G= (p.Pro871=)
c.2772G= (p.Pro924=)
c.2793G= (p.Pro931=)
n.2920G=
c.2487G= (p.Pro829=)
c.2745G= (p.Pro915=)
c.2640G= (p.Pro880=)
c.2586G= (p.Pro862=)
c.2664G= (p.Pro888=)
c.2415G= (p.Pro805=)
c.2646G= (p.Pro882=)
c.1572G= (p.Pro524=)
n.2627G=
1g.151406263C>GCA420910214POGZc.2820G>C (p.Pro940=)
c.2613G>C (p.Pro871=)
c.2772G>C (p.Pro924=)
c.2793G>C (p.Pro931=)
n.2920G>C
c.2487G>C (p.Pro829=)
c.2745G>C (p.Pro915=)
c.2640G>C (p.Pro880=)
c.2586G>C (p.Pro862=)
c.2664G>C (p.Pro888=)
c.2415G>C (p.Pro805=)
c.2646G>C (p.Pro882=)
c.1572G>C (p.Pro524=)
n.2627G>C
 COSMIC COSMIC
1g.151406263C>TCA1091064POGZc.2820G>A (p.Pro940=)
c.2613G>A (p.Pro871=)
c.2772G>A (p.Pro924=)
c.2793G>A (p.Pro931=)
n.2920G>A
c.2487G>A (p.Pro829=)
c.2745G>A (p.Pro915=)
c.2640G>A (p.Pro880=)
c.2586G>A (p.Pro862=)
c.2664G>A (p.Pro888=)
c.2415G>A (p.Pro805=)
c.2646G>A (p.Pro882=)
c.1572G>A (p.Pro524=)
n.2627G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406263_151406264delinsCGCA2479570579POGZc.2819_2820delinsCG (p.Pro940=)
c.2612_2613delinsCG (p.Pro871=)
c.2771_2772delinsCG (p.Pro924=)
c.2792_2793delinsCG (p.Pro931=)
n.2919_2920delinsCG
c.2486_2487delinsCG (p.Pro829=)
c.2744_2745delinsCG (p.Pro915=)
c.2639_2640delinsCG (p.Pro880=)
c.2585_2586delinsCG (p.Pro862=)
c.2663_2664delinsCG (p.Pro888=)
c.2414_2415delinsCG (p.Pro805=)
c.2645_2646delinsCG (p.Pro882=)
c.1571_1572delinsCG (p.Pro524=)
n.2626_2627delinsCG
1g.151406264G>ACA1091065POGZc.2819C>T (p.Pro940Leu)
c.2612C>T (p.Pro871Leu)
c.2771C>T (p.Pro924Leu)
c.2792C>T (p.Pro931Leu)
n.2919C>T
c.2486C>T (p.Pro829Leu)
c.2744C>T (p.Pro915Leu)
c.2639C>T (p.Pro880Leu)
c.2585C>T (p.Pro862Leu)
c.2663C>T (p.Pro888Leu)
c.2414C>T (p.Pro805Leu)
c.2645C>T (p.Pro882Leu)
c.1571C>T (p.Pro524Leu)
n.2626C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406264G>CCA341948975POGZc.2819C>G (p.Pro940Arg)
c.2612C>G (p.Pro871Arg)
c.2771C>G (p.Pro924Arg)
c.2792C>G (p.Pro931Arg)
n.2919C>G
c.2486C>G (p.Pro829Arg)
c.2744C>G (p.Pro915Arg)
c.2639C>G (p.Pro880Arg)
c.2585C>G (p.Pro862Arg)
c.2663C>G (p.Pro888Arg)
c.2414C>G (p.Pro805Arg)
c.2645C>G (p.Pro882Arg)
c.1571C>G (p.Pro524Arg)
n.2626C>G
1g.151406264G=CA2479570580POGZc.2819C= (p.Pro940=)
c.2612C= (p.Pro871=)
c.2771C= (p.Pro924=)
c.2792C= (p.Pro931=)
n.2919C=
c.2486C= (p.Pro829=)
c.2744C= (p.Pro915=)
c.2639C= (p.Pro880=)
c.2585C= (p.Pro862=)
c.2663C= (p.Pro888=)
c.2414C= (p.Pro805=)
c.2645C= (p.Pro882=)
c.1571C= (p.Pro524=)
n.2626C=
1g.151406264G>TCA341948976POGZc.2819C>A (p.Pro940Gln)
c.2612C>A (p.Pro871Gln)
c.2771C>A (p.Pro924Gln)
c.2792C>A (p.Pro931Gln)
n.2919C>A
c.2486C>A (p.Pro829Gln)
c.2744C>A (p.Pro915Gln)
c.2639C>A (p.Pro880Gln)
c.2585C>A (p.Pro862Gln)
c.2663C>A (p.Pro888Gln)
c.2414C>A (p.Pro805Gln)
c.2645C>A (p.Pro882Gln)
c.1571C>A (p.Pro524Gln)
n.2626C>A
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.151406265G>ACA341948977POGZc.2818C>T (p.Pro940Ser)
c.2611C>T (p.Pro871Ser)
c.2770C>T (p.Pro924Ser)
c.2791C>T (p.Pro931Ser)
n.2918C>T
c.2485C>T (p.Pro829Ser)
c.2743C>T (p.Pro915Ser)
c.2638C>T (p.Pro880Ser)
c.2584C>T (p.Pro862Ser)
c.2662C>T (p.Pro888Ser)
c.2413C>T (p.Pro805Ser)
c.2644C>T (p.Pro882Ser)
c.1570C>T (p.Pro524Ser)
n.2625C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406265G>CCA341948978POGZc.2818C>G (p.Pro940Ala)
c.2611C>G (p.Pro871Ala)
c.2770C>G (p.Pro924Ala)
c.2791C>G (p.Pro931Ala)
n.2918C>G
c.2485C>G (p.Pro829Ala)
c.2743C>G (p.Pro915Ala)
c.2638C>G (p.Pro880Ala)
c.2584C>G (p.Pro862Ala)
c.2662C>G (p.Pro888Ala)
c.2413C>G (p.Pro805Ala)
c.2644C>G (p.Pro882Ala)
c.1570C>G (p.Pro524Ala)
n.2625C>G
 dbSNP
1g.151406265G=CA2479570581POGZc.2818C= (p.Pro940=)
c.2611C= (p.Pro871=)
c.2770C= (p.Pro924=)
c.2791C= (p.Pro931=)
n.2918C=
c.2485C= (p.Pro829=)
c.2743C= (p.Pro915=)
c.2638C= (p.Pro880=)
c.2584C= (p.Pro862=)
c.2662C= (p.Pro888=)
c.2413C= (p.Pro805=)
c.2644C= (p.Pro882=)
c.1570C= (p.Pro524=)
n.2625C=
1g.151406265G>TCA341948982POGZc.2818C>A (p.Pro940Thr)
c.2611C>A (p.Pro871Thr)
c.2770C>A (p.Pro924Thr)
c.2791C>A (p.Pro931Thr)
n.2918C>A
c.2485C>A (p.Pro829Thr)
c.2743C>A (p.Pro915Thr)
c.2638C>A (p.Pro880Thr)
c.2584C>A (p.Pro862Thr)
c.2662C>A (p.Pro888Thr)
c.2413C>A (p.Pro805Thr)
c.2644C>A (p.Pro882Thr)
c.1570C>A (p.Pro524Thr)
n.2625C>A
 gnomAD v4
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

Number of alleles fetched