Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406082G>ACA420909815POGZc.3001C>T (p.Leu1001=)
c.2794C>T (p.Leu932=)
c.2953C>T (p.Leu985=)
c.2974C>T (p.Leu992=)
n.3101C>T
c.2668C>T (p.Leu890=)
c.2926C>T (p.Leu976=)
c.2821C>T (p.Leu941=)
c.2767C>T (p.Leu923=)
c.2845C>T (p.Leu949=)
c.2596C>T (p.Leu866=)
c.2827C>T (p.Leu943=)
c.1753C>T (p.Leu585=)
n.2808C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406082G>CCA341947241POGZc.3001C>G (p.Leu1001Val)
c.2794C>G (p.Leu932Val)
c.2953C>G (p.Leu985Val)
c.2974C>G (p.Leu992Val)
n.3101C>G
c.2668C>G (p.Leu890Val)
c.2926C>G (p.Leu976Val)
c.2821C>G (p.Leu941Val)
c.2767C>G (p.Leu923Val)
c.2845C>G (p.Leu949Val)
c.2596C>G (p.Leu866Val)
c.2827C>G (p.Leu943Val)
c.1753C>G (p.Leu585Val)
n.2808C>G
 gnomAD v4 COSMIC COSMIC
1g.151406082G=CA2479570508POGZc.3001C= (p.Leu1001=)
c.2794C= (p.Leu932=)
c.2953C= (p.Leu985=)
c.2974C= (p.Leu992=)
n.3101C=
c.2668C= (p.Leu890=)
c.2926C= (p.Leu976=)
c.2821C= (p.Leu941=)
c.2767C= (p.Leu923=)
c.2845C= (p.Leu949=)
c.2596C= (p.Leu866=)
c.2827C= (p.Leu943=)
c.1753C= (p.Leu585=)
n.2808C=
1g.151406082G>TCA341947243POGZc.3001C>A (p.Leu1001Ile)
c.2794C>A (p.Leu932Ile)
c.2953C>A (p.Leu985Ile)
c.2974C>A (p.Leu992Ile)
n.3101C>A
c.2668C>A (p.Leu890Ile)
c.2926C>A (p.Leu976Ile)
c.2821C>A (p.Leu941Ile)
c.2767C>A (p.Leu923Ile)
c.2845C>A (p.Leu949Ile)
c.2596C>A (p.Leu866Ile)
c.2827C>A (p.Leu943Ile)
c.1753C>A (p.Leu585Ile)
n.2808C>A
1g.151406083A=CA1143682428POGZc.3000T= (p.Ala1000=)
c.2793T= (p.Ala931=)
c.2952T= (p.Ala984=)
c.2973T= (p.Ala991=)
n.3100T=
c.2667T= (p.Ala889=)
c.2925T= (p.Ala975=)
c.2820T= (p.Ala940=)
c.2766T= (p.Ala922=)
c.2844T= (p.Ala948=)
c.2595T= (p.Ala865=)
c.2826T= (p.Ala942=)
c.1752T= (p.Ala584=)
n.2807T=
1g.151406083A>CCA1091030POGZc.3000T>G (p.Ala1000=)
c.2793T>G (p.Ala931=)
c.2952T>G (p.Ala984=)
c.2973T>G (p.Ala991=)
n.3100T>G
c.2667T>G (p.Ala889=)
c.2925T>G (p.Ala975=)
c.2820T>G (p.Ala940=)
c.2766T>G (p.Ala922=)
c.2844T>G (p.Ala948=)
c.2595T>G (p.Ala865=)
c.2826T>G (p.Ala942=)
c.1752T>G (p.Ala584=)
n.2807T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406083A>GCA420909830POGZc.3000T>C (p.Ala1000=)
c.2793T>C (p.Ala931=)
c.2952T>C (p.Ala984=)
c.2973T>C (p.Ala991=)
n.3100T>C
c.2667T>C (p.Ala889=)
c.2925T>C (p.Ala975=)
c.2820T>C (p.Ala940=)
c.2766T>C (p.Ala922=)
c.2844T>C (p.Ala948=)
c.2595T>C (p.Ala865=)
c.2826T>C (p.Ala942=)
c.1752T>C (p.Ala584=)
n.2807T>C
1g.151406083A>TCA420909827POGZc.3000T>A (p.Ala1000=)
c.2793T>A (p.Ala931=)
c.2952T>A (p.Ala984=)
c.2973T>A (p.Ala991=)
n.3100T>A
c.2667T>A (p.Ala889=)
c.2925T>A (p.Ala975=)
c.2820T>A (p.Ala940=)
c.2766T>A (p.Ala922=)
c.2844T>A (p.Ala948=)
c.2595T>A (p.Ala865=)
c.2826T>A (p.Ala942=)
c.1752T>A (p.Ala584=)
n.2807T>A
 gnomAD v4
1g.151406084G>ACA341947249POGZc.2999C>T (p.Ala1000Val)
c.2792C>T (p.Ala931Val)
c.2951C>T (p.Ala984Val)
c.2972C>T (p.Ala991Val)
n.3099C>T
c.2666C>T (p.Ala889Val)
c.2924C>T (p.Ala975Val)
c.2819C>T (p.Ala940Val)
c.2765C>T (p.Ala922Val)
c.2843C>T (p.Ala948Val)
c.2594C>T (p.Ala865Val)
c.2825C>T (p.Ala942Val)
c.1751C>T (p.Ala584Val)
n.2806C>T
1g.151406084G>CCA341947247POGZc.2999C>G (p.Ala1000Gly)
c.2792C>G (p.Ala931Gly)
c.2951C>G (p.Ala984Gly)
c.2972C>G (p.Ala991Gly)
n.3099C>G
c.2666C>G (p.Ala889Gly)
c.2924C>G (p.Ala975Gly)
c.2819C>G (p.Ala940Gly)
c.2765C>G (p.Ala922Gly)
c.2843C>G (p.Ala948Gly)
c.2594C>G (p.Ala865Gly)
c.2825C>G (p.Ala942Gly)
c.1751C>G (p.Ala584Gly)
n.2806C>G
 gnomAD v4
1g.151406084G>TCA341947245POGZc.2999C>A (p.Ala1000Asp)
c.2792C>A (p.Ala931Asp)
c.2951C>A (p.Ala984Asp)
c.2972C>A (p.Ala991Asp)
n.3099C>A
c.2666C>A (p.Ala889Asp)
c.2924C>A (p.Ala975Asp)
c.2819C>A (p.Ala940Asp)
c.2765C>A (p.Ala922Asp)
c.2843C>A (p.Ala948Asp)
c.2594C>A (p.Ala865Asp)
c.2825C>A (p.Ala942Asp)
c.1751C>A (p.Ala584Asp)
n.2806C>A
1g.151406085C>ACA341947253POGZc.2998G>T (p.Ala1000Ser)
c.2791G>T (p.Ala931Ser)
c.2950G>T (p.Ala984Ser)
c.2971G>T (p.Ala991Ser)
n.3098G>T
c.2665G>T (p.Ala889Ser)
c.2923G>T (p.Ala975Ser)
c.2818G>T (p.Ala940Ser)
c.2764G>T (p.Ala922Ser)
c.2842G>T (p.Ala948Ser)
c.2593G>T (p.Ala865Ser)
c.2824G>T (p.Ala942Ser)
c.1750G>T (p.Ala584Ser)
n.2805G>T
1g.151406085C>GCA341947256POGZc.2998G>C (p.Ala1000Pro)
c.2791G>C (p.Ala931Pro)
c.2950G>C (p.Ala984Pro)
c.2971G>C (p.Ala991Pro)
n.3098G>C
c.2665G>C (p.Ala889Pro)
c.2923G>C (p.Ala975Pro)
c.2818G>C (p.Ala940Pro)
c.2764G>C (p.Ala922Pro)
c.2842G>C (p.Ala948Pro)
c.2593G>C (p.Ala865Pro)
c.2824G>C (p.Ala942Pro)
c.1750G>C (p.Ala584Pro)
n.2805G>C
1g.151406085C>TCA341947260POGZc.2998G>A (p.Ala1000Thr)
c.2791G>A (p.Ala931Thr)
c.2950G>A (p.Ala984Thr)
c.2971G>A (p.Ala991Thr)
n.3098G>A
c.2665G>A (p.Ala889Thr)
c.2923G>A (p.Ala975Thr)
c.2818G>A (p.Ala940Thr)
c.2764G>A (p.Ala922Thr)
c.2842G>A (p.Ala948Thr)
c.2593G>A (p.Ala865Thr)
c.2824G>A (p.Ala942Thr)
c.1750G>A (p.Ala584Thr)
n.2805G>A
1g.151406086A=CA2479570509POGZc.2997T= (p.Phe999=)
c.2790T= (p.Phe930=)
c.2949T= (p.Phe983=)
c.2970T= (p.Phe990=)
n.3097T=
c.2664T= (p.Phe888=)
c.2922T= (p.Phe974=)
c.2817T= (p.Phe939=)
c.2763T= (p.Phe921=)
c.2841T= (p.Phe947=)
c.2592T= (p.Phe864=)
c.2823T= (p.Phe941=)
c.1749T= (p.Phe583=)
n.2804T=
1g.151406086A>CCA341947265POGZc.2997T>G (p.Phe999Leu)
c.2790T>G (p.Phe930Leu)
c.2949T>G (p.Phe983Leu)
c.2970T>G (p.Phe990Leu)
n.3097T>G
c.2664T>G (p.Phe888Leu)
c.2922T>G (p.Phe974Leu)
c.2817T>G (p.Phe939Leu)
c.2763T>G (p.Phe921Leu)
c.2841T>G (p.Phe947Leu)
c.2592T>G (p.Phe864Leu)
c.2823T>G (p.Phe941Leu)
c.1749T>G (p.Phe583Leu)
n.2804T>G
1g.151406086A>GCA1091031POGZc.2997T>C (p.Phe999=)
c.2790T>C (p.Phe930=)
c.2949T>C (p.Phe983=)
c.2970T>C (p.Phe990=)
n.3097T>C
c.2664T>C (p.Phe888=)
c.2922T>C (p.Phe974=)
c.2817T>C (p.Phe939=)
c.2763T>C (p.Phe921=)
c.2841T>C (p.Phe947=)
c.2592T>C (p.Phe864=)
c.2823T>C (p.Phe941=)
c.1749T>C (p.Phe583=)
n.2804T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406086A>TCA341947279POGZc.2997T>A (p.Phe999Leu)
c.2790T>A (p.Phe930Leu)
c.2949T>A (p.Phe983Leu)
c.2970T>A (p.Phe990Leu)
n.3097T>A
c.2664T>A (p.Phe888Leu)
c.2922T>A (p.Phe974Leu)
c.2817T>A (p.Phe939Leu)
c.2763T>A (p.Phe921Leu)
c.2841T>A (p.Phe947Leu)
c.2592T>A (p.Phe864Leu)
c.2823T>A (p.Phe941Leu)
c.1749T>A (p.Phe583Leu)
n.2804T>A
1g.151406087A>CCA341947284POGZc.2996T>G (p.Phe999Cys)
c.2789T>G (p.Phe930Cys)
c.2948T>G (p.Phe983Cys)
c.2969T>G (p.Phe990Cys)
n.3096T>G
c.2663T>G (p.Phe888Cys)
c.2921T>G (p.Phe974Cys)
c.2816T>G (p.Phe939Cys)
c.2762T>G (p.Phe921Cys)
c.2840T>G (p.Phe947Cys)
c.2591T>G (p.Phe864Cys)
c.2822T>G (p.Phe941Cys)
c.1748T>G (p.Phe583Cys)
n.2803T>G
1g.151406087A>GCA341947287POGZc.2996T>C (p.Phe999Ser)
c.2789T>C (p.Phe930Ser)
c.2948T>C (p.Phe983Ser)
c.2969T>C (p.Phe990Ser)
n.3096T>C
c.2663T>C (p.Phe888Ser)
c.2921T>C (p.Phe974Ser)
c.2816T>C (p.Phe939Ser)
c.2762T>C (p.Phe921Ser)
c.2840T>C (p.Phe947Ser)
c.2591T>C (p.Phe864Ser)
c.2822T>C (p.Phe941Ser)
c.1748T>C (p.Phe583Ser)
n.2803T>C
1g.151406087A>TCA341947291POGZc.2996T>A (p.Phe999Tyr)
c.2789T>A (p.Phe930Tyr)
c.2948T>A (p.Phe983Tyr)
c.2969T>A (p.Phe990Tyr)
n.3096T>A
c.2663T>A (p.Phe888Tyr)
c.2921T>A (p.Phe974Tyr)
c.2816T>A (p.Phe939Tyr)
c.2762T>A (p.Phe921Tyr)
c.2840T>A (p.Phe947Tyr)
c.2591T>A (p.Phe864Tyr)
c.2822T>A (p.Phe941Tyr)
c.1748T>A (p.Phe583Tyr)
n.2803T>A
1g.151406088A>CCA341947298POGZc.2995T>G (p.Phe999Val)
c.2788T>G (p.Phe930Val)
c.2947T>G (p.Phe983Val)
c.2968T>G (p.Phe990Val)
n.3095T>G
c.2662T>G (p.Phe888Val)
c.2920T>G (p.Phe974Val)
c.2815T>G (p.Phe939Val)
c.2761T>G (p.Phe921Val)
c.2839T>G (p.Phe947Val)
c.2590T>G (p.Phe864Val)
c.2821T>G (p.Phe941Val)
c.1747T>G (p.Phe583Val)
n.2802T>G
1g.151406088A>GCA341947300POGZc.2995T>C (p.Phe999Leu)
c.2788T>C (p.Phe930Leu)
c.2947T>C (p.Phe983Leu)
c.2968T>C (p.Phe990Leu)
n.3095T>C
c.2662T>C (p.Phe888Leu)
c.2920T>C (p.Phe974Leu)
c.2815T>C (p.Phe939Leu)
c.2761T>C (p.Phe921Leu)
c.2839T>C (p.Phe947Leu)
c.2590T>C (p.Phe864Leu)
c.2821T>C (p.Phe941Leu)
c.1747T>C (p.Phe583Leu)
n.2802T>C
1g.151406088A>TCA341947303POGZc.2995T>A (p.Phe999Ile)
c.2788T>A (p.Phe930Ile)
c.2947T>A (p.Phe983Ile)
c.2968T>A (p.Phe990Ile)
n.3095T>A
c.2662T>A (p.Phe888Ile)
c.2920T>A (p.Phe974Ile)
c.2815T>A (p.Phe939Ile)
c.2761T>A (p.Phe921Ile)
c.2839T>A (p.Phe947Ile)
c.2590T>A (p.Phe864Ile)
c.2821T>A (p.Phe941Ile)
c.1747T>A (p.Phe583Ile)
n.2802T>A
1g.151406089C>ACA420909854POGZc.2994G>T (p.Leu998=)
c.2787G>T (p.Leu929=)
c.2946G>T (p.Leu982=)
c.2967G>T (p.Leu989=)
n.3094G>T
c.2661G>T (p.Leu887=)
c.2919G>T (p.Leu973=)
c.2814G>T (p.Leu938=)
c.2760G>T (p.Leu920=)
c.2838G>T (p.Leu946=)
c.2589G>T (p.Leu863=)
c.2820G>T (p.Leu940=)
c.1746G>T (p.Leu582=)
n.2801G>T
1g.151406089C>GCA420909855POGZc.2994G>C (p.Leu998=)
c.2787G>C (p.Leu929=)
c.2946G>C (p.Leu982=)
c.2967G>C (p.Leu989=)
n.3094G>C
c.2661G>C (p.Leu887=)
c.2919G>C (p.Leu973=)
c.2814G>C (p.Leu938=)
c.2760G>C (p.Leu920=)
c.2838G>C (p.Leu946=)
c.2589G>C (p.Leu863=)
c.2820G>C (p.Leu940=)
c.1746G>C (p.Leu582=)
n.2801G>C
 gnomAD v4
1g.151406089C>TCA420909857POGZc.2994G>A (p.Leu998=)
c.2787G>A (p.Leu929=)
c.2946G>A (p.Leu982=)
c.2967G>A (p.Leu989=)
n.3094G>A
c.2661G>A (p.Leu887=)
c.2919G>A (p.Leu973=)
c.2814G>A (p.Leu938=)
c.2760G>A (p.Leu920=)
c.2838G>A (p.Leu946=)
c.2589G>A (p.Leu863=)
c.2820G>A (p.Leu940=)
c.1746G>A (p.Leu582=)
n.2801G>A
1g.151406090A>CCA341947315POGZc.2993T>G (p.Leu998Arg)
c.2786T>G (p.Leu929Arg)
c.2945T>G (p.Leu982Arg)
c.2966T>G (p.Leu989Arg)
n.3093T>G
c.2660T>G (p.Leu887Arg)
c.2918T>G (p.Leu973Arg)
c.2813T>G (p.Leu938Arg)
c.2759T>G (p.Leu920Arg)
c.2837T>G (p.Leu946Arg)
c.2588T>G (p.Leu863Arg)
c.2819T>G (p.Leu940Arg)
c.1745T>G (p.Leu582Arg)
n.2800T>G
1g.151406090A>GCA341947312POGZc.2993T>C (p.Leu998Pro)
c.2786T>C (p.Leu929Pro)
c.2945T>C (p.Leu982Pro)
c.2966T>C (p.Leu989Pro)
n.3093T>C
c.2660T>C (p.Leu887Pro)
c.2918T>C (p.Leu973Pro)
c.2813T>C (p.Leu938Pro)
c.2759T>C (p.Leu920Pro)
c.2837T>C (p.Leu946Pro)
c.2588T>C (p.Leu863Pro)
c.2819T>C (p.Leu940Pro)
c.1745T>C (p.Leu582Pro)
n.2800T>C
1g.151406090A>TCA341947308POGZc.2993T>A (p.Leu998Gln)
c.2786T>A (p.Leu929Gln)
c.2945T>A (p.Leu982Gln)
c.2966T>A (p.Leu989Gln)
n.3093T>A
c.2660T>A (p.Leu887Gln)
c.2918T>A (p.Leu973Gln)
c.2813T>A (p.Leu938Gln)
c.2759T>A (p.Leu920Gln)
c.2837T>A (p.Leu946Gln)
c.2588T>A (p.Leu863Gln)
c.2819T>A (p.Leu940Gln)
c.1745T>A (p.Leu582Gln)
n.2800T>A
1g.151406090_151406093dupCA2740097920POGZc.2990_2993dup (p.Phe999ThrfsTer13)
c.2783_2786dup (p.Phe930ThrfsTer13)
c.2942_2945dup (p.Phe983ThrfsTer13)
c.2963_2966dup (p.Phe990ThrfsTer13)
n.3090_3093dup
c.2657_2660dup (p.Phe888ThrfsTer13)
c.2915_2918dup (p.Phe974ThrfsTer13)
c.2810_2813dup (p.Phe939ThrfsTer13)
c.2756_2759dup (p.Phe921ThrfsTer13)
c.2834_2837dup (p.Phe947ThrfsTer13)
c.2585_2588dup (p.Phe864ThrfsTer13)
c.2816_2819dup (p.Phe941ThrfsTer13)
c.1742_1745dup (p.Phe583ThrfsTer13)
n.2797_2800dup
 ClinVar
1g.151406091G>ACA1091032POGZc.2992C>T (p.Leu998=)
c.2785C>T (p.Leu929=)
c.2944C>T (p.Leu982=)
c.2965C>T (p.Leu989=)
n.3092C>T
c.2659C>T (p.Leu887=)
c.2917C>T (p.Leu973=)
c.2812C>T (p.Leu938=)
c.2758C>T (p.Leu920=)
c.2836C>T (p.Leu946=)
c.2587C>T (p.Leu863=)
c.2818C>T (p.Leu940=)
c.1744C>T (p.Leu582=)
n.2799C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406091G>CCA341947322POGZc.2992C>G (p.Leu998Val)
c.2785C>G (p.Leu929Val)
c.2944C>G (p.Leu982Val)
c.2965C>G (p.Leu989Val)
n.3092C>G
c.2659C>G (p.Leu887Val)
c.2917C>G (p.Leu973Val)
c.2812C>G (p.Leu938Val)
c.2758C>G (p.Leu920Val)
c.2836C>G (p.Leu946Val)
c.2587C>G (p.Leu863Val)
c.2818C>G (p.Leu940Val)
c.1744C>G (p.Leu582Val)
n.2799C>G
1g.151406091G=CA1143438857POGZc.2992C= (p.Leu998=)
c.2785C= (p.Leu929=)
c.2944C= (p.Leu982=)
c.2965C= (p.Leu989=)
n.3092C=
c.2659C= (p.Leu887=)
c.2917C= (p.Leu973=)
c.2812C= (p.Leu938=)
c.2758C= (p.Leu920=)
c.2836C= (p.Leu946=)
c.2587C= (p.Leu863=)
c.2818C= (p.Leu940=)
c.1744C= (p.Leu582=)
n.2799C=
1g.151406091G>TCA341947324POGZc.2992C>A (p.Leu998Met)
c.2785C>A (p.Leu929Met)
c.2944C>A (p.Leu982Met)
c.2965C>A (p.Leu989Met)
n.3092C>A
c.2659C>A (p.Leu887Met)
c.2917C>A (p.Leu973Met)
c.2812C>A (p.Leu938Met)
c.2758C>A (p.Leu920Met)
c.2836C>A (p.Leu946Met)
c.2587C>A (p.Leu863Met)
c.2818C>A (p.Leu940Met)
c.1744C>A (p.Leu582Met)
n.2799C>A
1g.151406092T>ACA420909868POGZc.2991A>T (p.Val997=)
c.2784A>T (p.Val928=)
c.2943A>T (p.Val981=)
c.2964A>T (p.Val988=)
n.3091A>T
c.2658A>T (p.Val886=)
c.2916A>T (p.Val972=)
c.2811A>T (p.Val937=)
c.2757A>T (p.Val919=)
c.2835A>T (p.Val945=)
c.2586A>T (p.Val862=)
c.2817A>T (p.Val939=)
c.1743A>T (p.Val581=)
n.2798A>T
1g.151406092T>CCA420909870POGZc.2991A>G (p.Val997=)
c.2784A>G (p.Val928=)
c.2943A>G (p.Val981=)
c.2964A>G (p.Val988=)
n.3091A>G
c.2658A>G (p.Val886=)
c.2916A>G (p.Val972=)
c.2811A>G (p.Val937=)
c.2757A>G (p.Val919=)
c.2835A>G (p.Val945=)
c.2586A>G (p.Val862=)
c.2817A>G (p.Val939=)
c.1743A>G (p.Val581=)
n.2798A>G
1g.151406092T>GCA420909872POGZc.2991A>C (p.Val997=)
c.2784A>C (p.Val928=)
c.2943A>C (p.Val981=)
c.2964A>C (p.Val988=)
n.3091A>C
c.2658A>C (p.Val886=)
c.2916A>C (p.Val972=)
c.2811A>C (p.Val937=)
c.2757A>C (p.Val919=)
c.2835A>C (p.Val945=)
c.2586A>C (p.Val862=)
c.2817A>C (p.Val939=)
c.1743A>C (p.Val581=)
n.2798A>C
1g.151406093A>CCA341947325POGZc.2990T>G (p.Val997Gly)
c.2783T>G (p.Val928Gly)
c.2942T>G (p.Val981Gly)
c.2963T>G (p.Val988Gly)
n.3090T>G
c.2657T>G (p.Val886Gly)
c.2915T>G (p.Val972Gly)
c.2810T>G (p.Val937Gly)
c.2756T>G (p.Val919Gly)
c.2834T>G (p.Val945Gly)
c.2585T>G (p.Val862Gly)
c.2816T>G (p.Val939Gly)
c.1742T>G (p.Val581Gly)
n.2797T>G
1g.151406093A>GCA341947326POGZc.2990T>C (p.Val997Ala)
c.2783T>C (p.Val928Ala)
c.2942T>C (p.Val981Ala)
c.2963T>C (p.Val988Ala)
n.3090T>C
c.2657T>C (p.Val886Ala)
c.2915T>C (p.Val972Ala)
c.2810T>C (p.Val937Ala)
c.2756T>C (p.Val919Ala)
c.2834T>C (p.Val945Ala)
c.2585T>C (p.Val862Ala)
c.2816T>C (p.Val939Ala)
c.1742T>C (p.Val581Ala)
n.2797T>C
1g.151406093A>TCA341947327POGZc.2990T>A (p.Val997Glu)
c.2783T>A (p.Val928Glu)
c.2942T>A (p.Val981Glu)
c.2963T>A (p.Val988Glu)
n.3090T>A
c.2657T>A (p.Val886Glu)
c.2915T>A (p.Val972Glu)
c.2810T>A (p.Val937Glu)
c.2756T>A (p.Val919Glu)
c.2834T>A (p.Val945Glu)
c.2585T>A (p.Val862Glu)
c.2816T>A (p.Val939Glu)
c.1742T>A (p.Val581Glu)
n.2797T>A
1g.151406094C>ACA341947331POGZc.2989G>T (p.Val997Leu)
c.2782G>T (p.Val928Leu)
c.2941G>T (p.Val981Leu)
c.2962G>T (p.Val988Leu)
n.3089G>T
c.2656G>T (p.Val886Leu)
c.2914G>T (p.Val972Leu)
c.2809G>T (p.Val937Leu)
c.2755G>T (p.Val919Leu)
c.2833G>T (p.Val945Leu)
c.2584G>T (p.Val862Leu)
c.2815G>T (p.Val939Leu)
c.1741G>T (p.Val581Leu)
n.2796G>T
1g.151406094C>GCA341947333POGZc.2989G>C (p.Val997Leu)
c.2782G>C (p.Val928Leu)
c.2941G>C (p.Val981Leu)
c.2962G>C (p.Val988Leu)
n.3089G>C
c.2656G>C (p.Val886Leu)
c.2914G>C (p.Val972Leu)
c.2809G>C (p.Val937Leu)
c.2755G>C (p.Val919Leu)
c.2833G>C (p.Val945Leu)
c.2584G>C (p.Val862Leu)
c.2815G>C (p.Val939Leu)
c.1741G>C (p.Val581Leu)
n.2796G>C
1g.151406094C>TCA341947335POGZc.2989G>A (p.Val997Ile)
c.2782G>A (p.Val928Ile)
c.2941G>A (p.Val981Ile)
c.2962G>A (p.Val988Ile)
n.3089G>A
c.2656G>A (p.Val886Ile)
c.2914G>A (p.Val972Ile)
c.2809G>A (p.Val937Ile)
c.2755G>A (p.Val919Ile)
c.2833G>A (p.Val945Ile)
c.2584G>A (p.Val862Ile)
c.2815G>A (p.Val939Ile)
c.1741G>A (p.Val581Ile)
n.2796G>A
1g.151406095T>ACA420909879POGZc.2988A>T (p.Val996=)
c.2781A>T (p.Val927=)
c.2940A>T (p.Val980=)
c.2961A>T (p.Val987=)
n.3088A>T
c.2655A>T (p.Val885=)
c.2913A>T (p.Val971=)
c.2808A>T (p.Val936=)
c.2754A>T (p.Val918=)
c.2832A>T (p.Val944=)
c.2583A>T (p.Val861=)
c.2814A>T (p.Val938=)
c.1740A>T (p.Val580=)
n.2795A>T
1g.151406095T>CCA420909882POGZc.2988A>G (p.Val996=)
c.2781A>G (p.Val927=)
c.2940A>G (p.Val980=)
c.2961A>G (p.Val987=)
n.3088A>G
c.2655A>G (p.Val885=)
c.2913A>G (p.Val971=)
c.2808A>G (p.Val936=)
c.2754A>G (p.Val918=)
c.2832A>G (p.Val944=)
c.2583A>G (p.Val861=)
c.2814A>G (p.Val938=)
c.1740A>G (p.Val580=)
n.2795A>G
1g.151406095T>GCA420909884POGZc.2988A>C (p.Val996=)
c.2781A>C (p.Val927=)
c.2940A>C (p.Val980=)
c.2961A>C (p.Val987=)
n.3088A>C
c.2655A>C (p.Val885=)
c.2913A>C (p.Val971=)
c.2808A>C (p.Val936=)
c.2754A>C (p.Val918=)
c.2832A>C (p.Val944=)
c.2583A>C (p.Val861=)
c.2814A>C (p.Val938=)
c.1740A>C (p.Val580=)
n.2795A>C
1g.151406096A>CCA341947340POGZc.2987T>G (p.Val996Gly)
c.2780T>G (p.Val927Gly)
c.2939T>G (p.Val980Gly)
c.2960T>G (p.Val987Gly)
n.3087T>G
c.2654T>G (p.Val885Gly)
c.2912T>G (p.Val971Gly)
c.2807T>G (p.Val936Gly)
c.2753T>G (p.Val918Gly)
c.2831T>G (p.Val944Gly)
c.2582T>G (p.Val861Gly)
c.2813T>G (p.Val938Gly)
c.1739T>G (p.Val580Gly)
n.2794T>G
 gnomAD v4
1g.151406096A>GCA341947343POGZc.2987T>C (p.Val996Ala)
c.2780T>C (p.Val927Ala)
c.2939T>C (p.Val980Ala)
c.2960T>C (p.Val987Ala)
n.3087T>C
c.2654T>C (p.Val885Ala)
c.2912T>C (p.Val971Ala)
c.2807T>C (p.Val936Ala)
c.2753T>C (p.Val918Ala)
c.2831T>C (p.Val944Ala)
c.2582T>C (p.Val861Ala)
c.2813T>C (p.Val938Ala)
c.1739T>C (p.Val580Ala)
n.2794T>C
1g.151406096A>TCA341947345POGZc.2987T>A (p.Val996Glu)
c.2780T>A (p.Val927Glu)
c.2939T>A (p.Val980Glu)
c.2960T>A (p.Val987Glu)
n.3087T>A
c.2654T>A (p.Val885Glu)
c.2912T>A (p.Val971Glu)
c.2807T>A (p.Val936Glu)
c.2753T>A (p.Val918Glu)
c.2831T>A (p.Val944Glu)
c.2582T>A (p.Val861Glu)
c.2813T>A (p.Val938Glu)
c.1739T>A (p.Val580Glu)
n.2794T>A
1g.151406097C>ACA341947355POGZc.2986G>T (p.Val996Leu)
c.2779G>T (p.Val927Leu)
c.2938G>T (p.Val980Leu)
c.2959G>T (p.Val987Leu)
n.3086G>T
c.2653G>T (p.Val885Leu)
c.2911G>T (p.Val971Leu)
c.2806G>T (p.Val936Leu)
c.2752G>T (p.Val918Leu)
c.2830G>T (p.Val944Leu)
c.2581G>T (p.Val861Leu)
c.2812G>T (p.Val938Leu)
c.1738G>T (p.Val580Leu)
n.2793G>T
1g.151406097C>GCA341947354POGZc.2986G>C (p.Val996Leu)
c.2779G>C (p.Val927Leu)
c.2938G>C (p.Val980Leu)
c.2959G>C (p.Val987Leu)
n.3086G>C
c.2653G>C (p.Val885Leu)
c.2911G>C (p.Val971Leu)
c.2806G>C (p.Val936Leu)
c.2752G>C (p.Val918Leu)
c.2830G>C (p.Val944Leu)
c.2581G>C (p.Val861Leu)
c.2812G>C (p.Val938Leu)
c.1738G>C (p.Val580Leu)
n.2793G>C
1g.151406097C>TCA341947352POGZc.2986G>A (p.Val996Ile)
c.2779G>A (p.Val927Ile)
c.2938G>A (p.Val980Ile)
c.2959G>A (p.Val987Ile)
n.3086G>A
c.2653G>A (p.Val885Ile)
c.2911G>A (p.Val971Ile)
c.2806G>A (p.Val936Ile)
c.2752G>A (p.Val918Ile)
c.2830G>A (p.Val944Ile)
c.2581G>A (p.Val861Ile)
c.2812G>A (p.Val938Ile)
c.1738G>A (p.Val580Ile)
n.2793G>A
1g.151406098T>ACA420909897POGZc.2985A>T (p.Arg995=)
c.2778A>T (p.Arg926=)
c.2937A>T (p.Arg979=)
c.2958A>T (p.Arg986=)
n.3085A>T
c.2652A>T (p.Arg884=)
c.2910A>T (p.Arg970=)
c.2805A>T (p.Arg935=)
c.2751A>T (p.Arg917=)
c.2829A>T (p.Arg943=)
c.2580A>T (p.Arg860=)
c.2811A>T (p.Arg937=)
c.1737A>T (p.Arg579=)
n.2792A>T
1g.151406098T>CCA420909890POGZc.2985A>G (p.Arg995=)
c.2778A>G (p.Arg926=)
c.2937A>G (p.Arg979=)
c.2958A>G (p.Arg986=)
n.3085A>G
c.2652A>G (p.Arg884=)
c.2910A>G (p.Arg970=)
c.2805A>G (p.Arg935=)
c.2751A>G (p.Arg917=)
c.2829A>G (p.Arg943=)
c.2580A>G (p.Arg860=)
c.2811A>G (p.Arg937=)
c.1737A>G (p.Arg579=)
n.2792A>G
1g.151406098T>GCA420909892POGZc.2985A>C (p.Arg995=)
c.2778A>C (p.Arg926=)
c.2937A>C (p.Arg979=)
c.2958A>C (p.Arg986=)
n.3085A>C
c.2652A>C (p.Arg884=)
c.2910A>C (p.Arg970=)
c.2805A>C (p.Arg935=)
c.2751A>C (p.Arg917=)
c.2829A>C (p.Arg943=)
c.2580A>C (p.Arg860=)
c.2811A>C (p.Arg937=)
c.1737A>C (p.Arg579=)
n.2792A>C
1g.151406099C>ACA341947361POGZc.2984G>T (p.Arg995Leu)
c.2777G>T (p.Arg926Leu)
c.2936G>T (p.Arg979Leu)
c.2957G>T (p.Arg986Leu)
n.3084G>T
c.2651G>T (p.Arg884Leu)
c.2909G>T (p.Arg970Leu)
c.2804G>T (p.Arg935Leu)
c.2750G>T (p.Arg917Leu)
c.2828G>T (p.Arg943Leu)
c.2579G>T (p.Arg860Leu)
c.2810G>T (p.Arg937Leu)
c.1736G>T (p.Arg579Leu)
n.2791G>T
1g.151406099C>GCA341947362POGZc.2984G>C (p.Arg995Pro)
c.2777G>C (p.Arg926Pro)
c.2936G>C (p.Arg979Pro)
c.2957G>C (p.Arg986Pro)
n.3084G>C
c.2651G>C (p.Arg884Pro)
c.2909G>C (p.Arg970Pro)
c.2804G>C (p.Arg935Pro)
c.2750G>C (p.Arg917Pro)
c.2828G>C (p.Arg943Pro)
c.2579G>C (p.Arg860Pro)
c.2810G>C (p.Arg937Pro)
c.1736G>C (p.Arg579Pro)
n.2791G>C
1g.151406099C>TCA341947366POGZc.2984G>A (p.Arg995Gln)
c.2777G>A (p.Arg926Gln)
c.2936G>A (p.Arg979Gln)
c.2957G>A (p.Arg986Gln)
n.3084G>A
c.2651G>A (p.Arg884Gln)
c.2909G>A (p.Arg970Gln)
c.2804G>A (p.Arg935Gln)
c.2750G>A (p.Arg917Gln)
c.2828G>A (p.Arg943Gln)
c.2579G>A (p.Arg860Gln)
c.2810G>A (p.Arg937Gln)
c.1736G>A (p.Arg579Gln)
n.2791G>A
 ClinVar dbSNP
1g.151406100G>ACA347938POGZc.2983C>T (p.Arg995Ter)
c.2776C>T (p.Arg926Ter)
c.2935C>T (p.Arg979Ter)
c.2956C>T (p.Arg986Ter)
n.3083C>T
c.2650C>T (p.Arg884Ter)
c.2908C>T (p.Arg970Ter)
c.2803C>T (p.Arg935Ter)
c.2749C>T (p.Arg917Ter)
c.2827C>T (p.Arg943Ter)
c.2578C>T (p.Arg860Ter)
c.2809C>T (p.Arg937Ter)
c.1735C>T (p.Arg579Ter)
n.2790C>T
 ClinVar dbSNP COSMIC COSMIC
1g.151406100G>CCA341947372POGZc.2983C>G (p.Arg995Gly)
c.2776C>G (p.Arg926Gly)
c.2935C>G (p.Arg979Gly)
c.2956C>G (p.Arg986Gly)
n.3083C>G
c.2650C>G (p.Arg884Gly)
c.2908C>G (p.Arg970Gly)
c.2803C>G (p.Arg935Gly)
c.2749C>G (p.Arg917Gly)
c.2827C>G (p.Arg943Gly)
c.2578C>G (p.Arg860Gly)
c.2809C>G (p.Arg937Gly)
c.1735C>G (p.Arg579Gly)
n.2790C>G
1g.151406100G=CA2479570510POGZc.2983C= (p.Arg995=)
c.2776C= (p.Arg926=)
c.2935C= (p.Arg979=)
c.2956C= (p.Arg986=)
n.3083C=
c.2650C= (p.Arg884=)
c.2908C= (p.Arg970=)
c.2803C= (p.Arg935=)
c.2749C= (p.Arg917=)
c.2827C= (p.Arg943=)
c.2578C= (p.Arg860=)
c.2809C= (p.Arg937=)
c.1735C= (p.Arg579=)
n.2790C=
1g.151406100G>TCA420909902POGZc.2983C>A (p.Arg995=)
c.2776C>A (p.Arg926=)
c.2935C>A (p.Arg979=)
c.2956C>A (p.Arg986=)
n.3083C>A
c.2650C>A (p.Arg884=)
c.2908C>A (p.Arg970=)
c.2803C>A (p.Arg935=)
c.2749C>A (p.Arg917=)
c.2827C>A (p.Arg943=)
c.2578C>A (p.Arg860=)
c.2809C>A (p.Arg937=)
c.1735C>A (p.Arg579=)
n.2790C>A
1g.151406101A>CCA420909904POGZc.2982T>G (p.Leu994=)
c.2775T>G (p.Leu925=)
c.2934T>G (p.Leu978=)
c.2955T>G (p.Leu985=)
n.3082T>G
c.2649T>G (p.Leu883=)
c.2907T>G (p.Leu969=)
c.2802T>G (p.Leu934=)
c.2748T>G (p.Leu916=)
c.2826T>G (p.Leu942=)
c.2577T>G (p.Leu859=)
c.2808T>G (p.Leu936=)
c.1734T>G (p.Leu578=)
n.2789T>G
1g.151406101A>GCA420909906POGZc.2982T>C (p.Leu994=)
c.2775T>C (p.Leu925=)
c.2934T>C (p.Leu978=)
c.2955T>C (p.Leu985=)
n.3082T>C
c.2649T>C (p.Leu883=)
c.2907T>C (p.Leu969=)
c.2802T>C (p.Leu934=)
c.2748T>C (p.Leu916=)
c.2826T>C (p.Leu942=)
c.2577T>C (p.Leu859=)
c.2808T>C (p.Leu936=)
c.1734T>C (p.Leu578=)
n.2789T>C
1g.151406101A>TCA420909908POGZc.2982T>A (p.Leu994=)
c.2775T>A (p.Leu925=)
c.2934T>A (p.Leu978=)
c.2955T>A (p.Leu985=)
n.3082T>A
c.2649T>A (p.Leu883=)
c.2907T>A (p.Leu969=)
c.2802T>A (p.Leu934=)
c.2748T>A (p.Leu916=)
c.2826T>A (p.Leu942=)
c.2577T>A (p.Leu859=)
c.2808T>A (p.Leu936=)
c.1734T>A (p.Leu578=)
n.2789T>A
1g.151406101_151406102dupCA2586964169POGZc.2981_2982dup (p.Arg995PhefsTer3)
c.2774_2775dup (p.Arg926PhefsTer3)
c.2933_2934dup (p.Arg979PhefsTer3)
c.2954_2955dup (p.Arg986PhefsTer3)
n.3081_3082dup
c.2648_2649dup (p.Arg884PhefsTer3)
c.2906_2907dup (p.Arg970PhefsTer3)
c.2801_2802dup (p.Arg935PhefsTer3)
c.2747_2748dup (p.Arg917PhefsTer3)
c.2825_2826dup (p.Arg943PhefsTer3)
c.2576_2577dup (p.Arg860PhefsTer3)
c.2807_2808dup (p.Arg937PhefsTer3)
c.1733_1734dup (p.Arg579PhefsTer3)
n.2788_2789dup
1g.151406102A>CCA341947379POGZc.2981T>G (p.Leu994Arg)
c.2774T>G (p.Leu925Arg)
c.2933T>G (p.Leu978Arg)
c.2954T>G (p.Leu985Arg)
n.3081T>G
c.2648T>G (p.Leu883Arg)
c.2906T>G (p.Leu969Arg)
c.2801T>G (p.Leu934Arg)
c.2747T>G (p.Leu916Arg)
c.2825T>G (p.Leu942Arg)
c.2576T>G (p.Leu859Arg)
c.2807T>G (p.Leu936Arg)
c.1733T>G (p.Leu578Arg)
n.2788T>G
1g.151406102A>GCA341947381POGZc.2981T>C (p.Leu994Pro)
c.2774T>C (p.Leu925Pro)
c.2933T>C (p.Leu978Pro)
c.2954T>C (p.Leu985Pro)
n.3081T>C
c.2648T>C (p.Leu883Pro)
c.2906T>C (p.Leu969Pro)
c.2801T>C (p.Leu934Pro)
c.2747T>C (p.Leu916Pro)
c.2825T>C (p.Leu942Pro)
c.2576T>C (p.Leu859Pro)
c.2807T>C (p.Leu936Pro)
c.1733T>C (p.Leu578Pro)
n.2788T>C
1g.151406102A>TCA341947385POGZc.2981T>A (p.Leu994His)
c.2774T>A (p.Leu925His)
c.2933T>A (p.Leu978His)
c.2954T>A (p.Leu985His)
n.3081T>A
c.2648T>A (p.Leu883His)
c.2906T>A (p.Leu969His)
c.2801T>A (p.Leu934His)
c.2747T>A (p.Leu916His)
c.2825T>A (p.Leu942His)
c.2576T>A (p.Leu859His)
c.2807T>A (p.Leu936His)
c.1733T>A (p.Leu578His)
n.2788T>A
1g.151406103G>ACA341947390POGZc.2980C>T (p.Leu994Phe)
c.2773C>T (p.Leu925Phe)
c.2932C>T (p.Leu978Phe)
c.2953C>T (p.Leu985Phe)
n.3080C>T
c.2647C>T (p.Leu883Phe)
c.2905C>T (p.Leu969Phe)
c.2800C>T (p.Leu934Phe)
c.2746C>T (p.Leu916Phe)
c.2824C>T (p.Leu942Phe)
c.2575C>T (p.Leu859Phe)
c.2806C>T (p.Leu936Phe)
c.1732C>T (p.Leu578Phe)
n.2787C>T
1g.151406103G>CCA341947394POGZc.2980C>G (p.Leu994Val)
c.2773C>G (p.Leu925Val)
c.2932C>G (p.Leu978Val)
c.2953C>G (p.Leu985Val)
n.3080C>G
c.2647C>G (p.Leu883Val)
c.2905C>G (p.Leu969Val)
c.2800C>G (p.Leu934Val)
c.2746C>G (p.Leu916Val)
c.2824C>G (p.Leu942Val)
c.2575C>G (p.Leu859Val)
c.2806C>G (p.Leu936Val)
c.1732C>G (p.Leu578Val)
n.2787C>G
1g.151406103G>TCA341947401POGZc.2980C>A (p.Leu994Ile)
c.2773C>A (p.Leu925Ile)
c.2932C>A (p.Leu978Ile)
c.2953C>A (p.Leu985Ile)
n.3080C>A
c.2647C>A (p.Leu883Ile)
c.2905C>A (p.Leu969Ile)
c.2800C>A (p.Leu934Ile)
c.2746C>A (p.Leu916Ile)
c.2824C>A (p.Leu942Ile)
c.2575C>A (p.Leu859Ile)
c.2806C>A (p.Leu936Ile)
c.1732C>A (p.Leu578Ile)
n.2787C>A
1g.151406104C>ACA341947404POGZc.2979G>T (p.Lys993Asn)
c.2772G>T (p.Lys924Asn)
c.2931G>T (p.Lys977Asn)
c.2952G>T (p.Lys984Asn)
n.3079G>T
c.2646G>T (p.Lys882Asn)
c.2904G>T (p.Lys968Asn)
c.2799G>T (p.Lys933Asn)
c.2745G>T (p.Lys915Asn)
c.2823G>T (p.Lys941Asn)
c.2574G>T (p.Lys858Asn)
c.2805G>T (p.Lys935Asn)
c.1731G>T (p.Lys577Asn)
n.2786G>T
1g.151406104C>GCA341947408POGZc.2979G>C (p.Lys993Asn)
c.2772G>C (p.Lys924Asn)
c.2931G>C (p.Lys977Asn)
c.2952G>C (p.Lys984Asn)
n.3079G>C
c.2646G>C (p.Lys882Asn)
c.2904G>C (p.Lys968Asn)
c.2799G>C (p.Lys933Asn)
c.2745G>C (p.Lys915Asn)
c.2823G>C (p.Lys941Asn)
c.2574G>C (p.Lys858Asn)
c.2805G>C (p.Lys935Asn)
c.1731G>C (p.Lys577Asn)
n.2786G>C
1g.151406104C>TCA420909915POGZc.2979G>A (p.Lys993=)
c.2772G>A (p.Lys924=)
c.2931G>A (p.Lys977=)
c.2952G>A (p.Lys984=)
n.3079G>A
c.2646G>A (p.Lys882=)
c.2904G>A (p.Lys968=)
c.2799G>A (p.Lys933=)
c.2745G>A (p.Lys915=)
c.2823G>A (p.Lys941=)
c.2574G>A (p.Lys858=)
c.2805G>A (p.Lys935=)
c.1731G>A (p.Lys577=)
n.2786G>A
 ClinVar
1g.151406105T>ACA341947420POGZc.2978A>T (p.Lys993Met)
c.2771A>T (p.Lys924Met)
c.2930A>T (p.Lys977Met)
c.2951A>T (p.Lys984Met)
n.3078A>T
c.2645A>T (p.Lys882Met)
c.2903A>T (p.Lys968Met)
c.2798A>T (p.Lys933Met)
c.2744A>T (p.Lys915Met)
c.2822A>T (p.Lys941Met)
c.2573A>T (p.Lys858Met)
c.2804A>T (p.Lys935Met)
c.1730A>T (p.Lys577Met)
n.2785A>T
1g.151406105T>CCA341947418POGZc.2978A>G (p.Lys993Arg)
c.2771A>G (p.Lys924Arg)
c.2930A>G (p.Lys977Arg)
c.2951A>G (p.Lys984Arg)
n.3078A>G
c.2645A>G (p.Lys882Arg)
c.2903A>G (p.Lys968Arg)
c.2798A>G (p.Lys933Arg)
c.2744A>G (p.Lys915Arg)
c.2822A>G (p.Lys941Arg)
c.2573A>G (p.Lys858Arg)
c.2804A>G (p.Lys935Arg)
c.1730A>G (p.Lys577Arg)
n.2785A>G
1g.151406105T>GCA341947416POGZc.2978A>C (p.Lys993Thr)
c.2771A>C (p.Lys924Thr)
c.2930A>C (p.Lys977Thr)
c.2951A>C (p.Lys984Thr)
n.3078A>C
c.2645A>C (p.Lys882Thr)
c.2903A>C (p.Lys968Thr)
c.2798A>C (p.Lys933Thr)
c.2744A>C (p.Lys915Thr)
c.2822A>C (p.Lys941Thr)
c.2573A>C (p.Lys858Thr)
c.2804A>C (p.Lys935Thr)
c.1730A>C (p.Lys577Thr)
n.2785A>C
1g.151406106T>ACA341947425POGZc.2977A>T (p.Lys993Ter)
c.2770A>T (p.Lys924Ter)
c.2929A>T (p.Lys977Ter)
c.2950A>T (p.Lys984Ter)
n.3077A>T
c.2644A>T (p.Lys882Ter)
c.2902A>T (p.Lys968Ter)
c.2797A>T (p.Lys933Ter)
c.2743A>T (p.Lys915Ter)
c.2821A>T (p.Lys941Ter)
c.2572A>T (p.Lys858Ter)
c.2803A>T (p.Lys935Ter)
c.1729A>T (p.Lys577Ter)
n.2784A>T
1g.151406106T>CCA341947432POGZc.2977A>G (p.Lys993Glu)
c.2770A>G (p.Lys924Glu)
c.2929A>G (p.Lys977Glu)
c.2950A>G (p.Lys984Glu)
n.3077A>G
c.2644A>G (p.Lys882Glu)
c.2902A>G (p.Lys968Glu)
c.2797A>G (p.Lys933Glu)
c.2743A>G (p.Lys915Glu)
c.2821A>G (p.Lys941Glu)
c.2572A>G (p.Lys858Glu)
c.2803A>G (p.Lys935Glu)
c.1729A>G (p.Lys577Glu)
n.2784A>G
1g.151406106T>GCA341947429POGZc.2977A>C (p.Lys993Gln)
c.2770A>C (p.Lys924Gln)
c.2929A>C (p.Lys977Gln)
c.2950A>C (p.Lys984Gln)
n.3077A>C
c.2644A>C (p.Lys882Gln)
c.2902A>C (p.Lys968Gln)
c.2797A>C (p.Lys933Gln)
c.2743A>C (p.Lys915Gln)
c.2821A>C (p.Lys941Gln)
c.2572A>C (p.Lys858Gln)
c.2803A>C (p.Lys935Gln)
c.1729A>C (p.Lys577Gln)
n.2784A>C
1g.151406107C>ACA341947437POGZc.2976G>T (p.Lys992Asn)
c.2769G>T (p.Lys923Asn)
c.2928G>T (p.Lys976Asn)
c.2949G>T (p.Lys983Asn)
n.3076G>T
c.2643G>T (p.Lys881Asn)
c.2901G>T (p.Lys967Asn)
c.2796G>T (p.Lys932Asn)
c.2742G>T (p.Lys914Asn)
c.2820G>T (p.Lys940Asn)
c.2571G>T (p.Lys857Asn)
c.2802G>T (p.Lys934Asn)
c.1728G>T (p.Lys576Asn)
n.2783G>T
1g.151406107C=CA2479570511POGZc.2976G= (p.Lys992=)
c.2769G= (p.Lys923=)
c.2928G= (p.Lys976=)
c.2949G= (p.Lys983=)
n.3076G=
c.2643G= (p.Lys881=)
c.2901G= (p.Lys967=)
c.2796G= (p.Lys932=)
c.2742G= (p.Lys914=)
c.2820G= (p.Lys940=)
c.2571G= (p.Lys857=)
c.2802G= (p.Lys934=)
c.1728G= (p.Lys576=)
n.2783G=
1g.151406107C>GCA341947441POGZc.2976G>C (p.Lys992Asn)
c.2769G>C (p.Lys923Asn)
c.2928G>C (p.Lys976Asn)
c.2949G>C (p.Lys983Asn)
n.3076G>C
c.2643G>C (p.Lys881Asn)
c.2901G>C (p.Lys967Asn)
c.2796G>C (p.Lys932Asn)
c.2742G>C (p.Lys914Asn)
c.2820G>C (p.Lys940Asn)
c.2571G>C (p.Lys857Asn)
c.2802G>C (p.Lys934Asn)
c.1728G>C (p.Lys576Asn)
n.2783G>C
1g.151406107C>TCA420909921POGZc.2976G>A (p.Lys992=)
c.2769G>A (p.Lys923=)
c.2928G>A (p.Lys976=)
c.2949G>A (p.Lys983=)
n.3076G>A
c.2643G>A (p.Lys881=)
c.2901G>A (p.Lys967=)
c.2796G>A (p.Lys932=)
c.2742G>A (p.Lys914=)
c.2820G>A (p.Lys940=)
c.2571G>A (p.Lys857=)
c.2802G>A (p.Lys934=)
c.1728G>A (p.Lys576=)
n.2783G>A
 dbSNP gnomAD v2
1g.151406108T>ACA341947446POGZc.2975A>T (p.Lys992Met)
c.2768A>T (p.Lys923Met)
c.2927A>T (p.Lys976Met)
c.2948A>T (p.Lys983Met)
n.3075A>T
c.2642A>T (p.Lys881Met)
c.2900A>T (p.Lys967Met)
c.2795A>T (p.Lys932Met)
c.2741A>T (p.Lys914Met)
c.2819A>T (p.Lys940Met)
c.2570A>T (p.Lys857Met)
c.2801A>T (p.Lys934Met)
c.1727A>T (p.Lys576Met)
n.2782A>T
1g.151406108T>CCA341947453POGZc.2975A>G (p.Lys992Arg)
c.2768A>G (p.Lys923Arg)
c.2927A>G (p.Lys976Arg)
c.2948A>G (p.Lys983Arg)
n.3075A>G
c.2642A>G (p.Lys881Arg)
c.2900A>G (p.Lys967Arg)
c.2795A>G (p.Lys932Arg)
c.2741A>G (p.Lys914Arg)
c.2819A>G (p.Lys940Arg)
c.2570A>G (p.Lys857Arg)
c.2801A>G (p.Lys934Arg)
c.1727A>G (p.Lys576Arg)
n.2782A>G
 gnomAD v4
1g.151406108T>GCA341947450POGZc.2975A>C (p.Lys992Thr)
c.2768A>C (p.Lys923Thr)
c.2927A>C (p.Lys976Thr)
c.2948A>C (p.Lys983Thr)
n.3075A>C
c.2642A>C (p.Lys881Thr)
c.2900A>C (p.Lys967Thr)
c.2795A>C (p.Lys932Thr)
c.2741A>C (p.Lys914Thr)
c.2819A>C (p.Lys940Thr)
c.2570A>C (p.Lys857Thr)
c.2801A>C (p.Lys934Thr)
c.1727A>C (p.Lys576Thr)
n.2782A>C
1g.151406109T>ACA341947457POGZc.2974A>T (p.Lys992Ter)
c.2767A>T (p.Lys923Ter)
c.2926A>T (p.Lys976Ter)
c.2947A>T (p.Lys983Ter)
n.3074A>T
c.2641A>T (p.Lys881Ter)
c.2899A>T (p.Lys967Ter)
c.2794A>T (p.Lys932Ter)
c.2740A>T (p.Lys914Ter)
c.2818A>T (p.Lys940Ter)
c.2569A>T (p.Lys857Ter)
c.2800A>T (p.Lys934Ter)
c.1726A>T (p.Lys576Ter)
n.2781A>T
1g.151406109T>CCA341947460POGZc.2974A>G (p.Lys992Glu)
c.2767A>G (p.Lys923Glu)
c.2926A>G (p.Lys976Glu)
c.2947A>G (p.Lys983Glu)
n.3074A>G
c.2641A>G (p.Lys881Glu)
c.2899A>G (p.Lys967Glu)
c.2794A>G (p.Lys932Glu)
c.2740A>G (p.Lys914Glu)
c.2818A>G (p.Lys940Glu)
c.2569A>G (p.Lys857Glu)
c.2800A>G (p.Lys934Glu)
c.1726A>G (p.Lys576Glu)
n.2781A>G
1g.151406109T>GCA341947462POGZc.2974A>C (p.Lys992Gln)
c.2767A>C (p.Lys923Gln)
c.2926A>C (p.Lys976Gln)
c.2947A>C (p.Lys983Gln)
n.3074A>C
c.2641A>C (p.Lys881Gln)
c.2899A>C (p.Lys967Gln)
c.2794A>C (p.Lys932Gln)
c.2740A>C (p.Lys914Gln)
c.2818A>C (p.Lys940Gln)
c.2569A>C (p.Lys857Gln)
c.2800A>C (p.Lys934Gln)
c.1726A>C (p.Lys576Gln)
n.2781A>C
1g.151406109_151406111delinsTCACA2479570512POGZc.2972_2974delinsTGA (p.Val991=)
c.2765_2767delinsTGA (p.Val922=)
c.2924_2926delinsTGA (p.Val975=)
c.2945_2947delinsTGA (p.Val982=)
n.3072_3074delinsTGA
c.2639_2641delinsTGA (p.Val880=)
c.2897_2899delinsTGA (p.Val966=)
c.2792_2794delinsTGA (p.Val931=)
c.2738_2740delinsTGA (p.Val913=)
c.2816_2818delinsTGA (p.Val939=)
c.2567_2569delinsTGA (p.Val856=)
c.2798_2800delinsTGA (p.Val933=)
c.1724_1726delinsTGA (p.Val575=)
n.2779_2781delinsTGA
1g.151406110C>ACA420909926POGZc.2973G>T (p.Val991=)
c.2766G>T (p.Val922=)
c.2925G>T (p.Val975=)
c.2946G>T (p.Val982=)
n.3073G>T
c.2640G>T (p.Val880=)
c.2898G>T (p.Val966=)
c.2793G>T (p.Val931=)
c.2739G>T (p.Val913=)
c.2817G>T (p.Val939=)
c.2568G>T (p.Val856=)
c.2799G>T (p.Val933=)
c.1725G>T (p.Val575=)
n.2780G>T
1g.151406110C=CA2479570513POGZc.2973G= (p.Val991=)
c.2766G= (p.Val922=)
c.2925G= (p.Val975=)
c.2946G= (p.Val982=)
n.3073G=
c.2640G= (p.Val880=)
c.2898G= (p.Val966=)
c.2793G= (p.Val931=)
c.2739G= (p.Val913=)
c.2817G= (p.Val939=)
c.2568G= (p.Val856=)
c.2799G= (p.Val933=)
c.1725G= (p.Val575=)
n.2780G=
1g.151406110C>GCA1091033POGZc.2973G>C (p.Val991=)
c.2766G>C (p.Val922=)
c.2925G>C (p.Val975=)
c.2946G>C (p.Val982=)
n.3073G>C
c.2640G>C (p.Val880=)
c.2898G>C (p.Val966=)
c.2793G>C (p.Val931=)
c.2739G>C (p.Val913=)
c.2817G>C (p.Val939=)
c.2568G>C (p.Val856=)
c.2799G>C (p.Val933=)
c.1725G>C (p.Val575=)
n.2780G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406110C>TCA420909927POGZc.2973G>A (p.Val991=)
c.2766G>A (p.Val922=)
c.2925G>A (p.Val975=)
c.2946G>A (p.Val982=)
n.3073G>A
c.2640G>A (p.Val880=)
c.2898G>A (p.Val966=)
c.2793G>A (p.Val931=)
c.2739G>A (p.Val913=)
c.2817G>A (p.Val939=)
c.2568G>A (p.Val856=)
c.2799G>A (p.Val933=)
c.1725G>A (p.Val575=)
n.2780G>A
 COSMIC COSMIC
1g.151406112_151406113delCA16616969POGZc.2972_2973del (p.Val991GlufsTer19)
c.2765_2766del (p.Val922GlufsTer19)
c.2924_2925del (p.Val975GlufsTer19)
c.2945_2946del (p.Val982GlufsTer19)
n.3072_3073del
c.2639_2640del (p.Val880GlufsTer19)
c.2897_2898del (p.Val966GlufsTer19)
c.2792_2793del (p.Val931GlufsTer19)
c.2738_2739del (p.Val913GlufsTer19)
c.2816_2817del (p.Val939GlufsTer19)
c.2567_2568del (p.Val856GlufsTer19)
c.2798_2799del (p.Val933GlufsTer19)
c.1724_1725del (p.Val575GlufsTer19)
n.2779_2780del
 ClinVar dbSNP
1g.151406111A>CCA341947470POGZc.2972T>G (p.Val991Gly)
c.2765T>G (p.Val922Gly)
c.2924T>G (p.Val975Gly)
c.2945T>G (p.Val982Gly)
n.3072T>G
c.2639T>G (p.Val880Gly)
c.2897T>G (p.Val966Gly)
c.2792T>G (p.Val931Gly)
c.2738T>G (p.Val913Gly)
c.2816T>G (p.Val939Gly)
c.2567T>G (p.Val856Gly)
c.2798T>G (p.Val933Gly)
c.1724T>G (p.Val575Gly)
n.2779T>G
 COSMIC COSMIC
1g.151406111A>GCA341947473POGZc.2972T>C (p.Val991Ala)
c.2765T>C (p.Val922Ala)
c.2924T>C (p.Val975Ala)
c.2945T>C (p.Val982Ala)
n.3072T>C
c.2639T>C (p.Val880Ala)
c.2897T>C (p.Val966Ala)
c.2792T>C (p.Val931Ala)
c.2738T>C (p.Val913Ala)
c.2816T>C (p.Val939Ala)
c.2567T>C (p.Val856Ala)
c.2798T>C (p.Val933Ala)
c.1724T>C (p.Val575Ala)
n.2779T>C
1g.151406111A>TCA341947476POGZc.2972T>A (p.Val991Glu)
c.2765T>A (p.Val922Glu)
c.2924T>A (p.Val975Glu)
c.2945T>A (p.Val982Glu)
n.3072T>A
c.2639T>A (p.Val880Glu)
c.2897T>A (p.Val966Glu)
c.2792T>A (p.Val931Glu)
c.2738T>A (p.Val913Glu)
c.2816T>A (p.Val939Glu)
c.2567T>A (p.Val856Glu)
c.2798T>A (p.Val933Glu)
c.1724T>A (p.Val575Glu)
n.2779T>A
1g.151406112C>ACA341947479POGZc.2971G>T (p.Val991Leu)
c.2764G>T (p.Val922Leu)
c.2923G>T (p.Val975Leu)
c.2944G>T (p.Val982Leu)
n.3071G>T
c.2638G>T (p.Val880Leu)
c.2896G>T (p.Val966Leu)
c.2791G>T (p.Val931Leu)
c.2737G>T (p.Val913Leu)
c.2815G>T (p.Val939Leu)
c.2566G>T (p.Val856Leu)
c.2797G>T (p.Val933Leu)
c.1723G>T (p.Val575Leu)
n.2778G>T
1g.151406112C>GCA341947482POGZc.2971G>C (p.Val991Leu)
c.2764G>C (p.Val922Leu)
c.2923G>C (p.Val975Leu)
c.2944G>C (p.Val982Leu)
n.3071G>C
c.2638G>C (p.Val880Leu)
c.2896G>C (p.Val966Leu)
c.2791G>C (p.Val931Leu)
c.2737G>C (p.Val913Leu)
c.2815G>C (p.Val939Leu)
c.2566G>C (p.Val856Leu)
c.2797G>C (p.Val933Leu)
c.1723G>C (p.Val575Leu)
n.2778G>C
1g.151406112C>TCA341947484POGZc.2971G>A (p.Val991Met)
c.2764G>A (p.Val922Met)
c.2923G>A (p.Val975Met)
c.2944G>A (p.Val982Met)
n.3071G>A
c.2638G>A (p.Val880Met)
c.2896G>A (p.Val966Met)
c.2791G>A (p.Val931Met)
c.2737G>A (p.Val913Met)
c.2815G>A (p.Val939Met)
c.2566G>A (p.Val856Met)
c.2797G>A (p.Val933Met)
c.1723G>A (p.Val575Met)
n.2778G>A
1g.151406113A>CCA420909932POGZc.2970T>G (p.Ser990=)
c.2763T>G (p.Ser921=)
c.2922T>G (p.Ser974=)
c.2943T>G (p.Ser981=)
n.3070T>G
c.2637T>G (p.Ser879=)
c.2895T>G (p.Ser965=)
c.2790T>G (p.Ser930=)
c.2736T>G (p.Ser912=)
c.2814T>G (p.Ser938=)
c.2565T>G (p.Ser855=)
c.2796T>G (p.Ser932=)
c.1722T>G (p.Ser574=)
n.2777T>G
1g.151406113A>GCA420909934POGZc.2970T>C (p.Ser990=)
c.2763T>C (p.Ser921=)
c.2922T>C (p.Ser974=)
c.2943T>C (p.Ser981=)
n.3070T>C
c.2637T>C (p.Ser879=)
c.2895T>C (p.Ser965=)
c.2790T>C (p.Ser930=)
c.2736T>C (p.Ser912=)
c.2814T>C (p.Ser938=)
c.2565T>C (p.Ser855=)
c.2796T>C (p.Ser932=)
c.1722T>C (p.Ser574=)
n.2777T>C
1g.151406113A>TCA420909936POGZc.2970T>A (p.Ser990=)
c.2763T>A (p.Ser921=)
c.2922T>A (p.Ser974=)
c.2943T>A (p.Ser981=)
n.3070T>A
c.2637T>A (p.Ser879=)
c.2895T>A (p.Ser965=)
c.2790T>A (p.Ser930=)
c.2736T>A (p.Ser912=)
c.2814T>A (p.Ser938=)
c.2565T>A (p.Ser855=)
c.2796T>A (p.Ser932=)
c.1722T>A (p.Ser574=)
n.2777T>A
1g.151406114G>ACA341947488POGZc.2969C>T (p.Ser990Phe)
c.2762C>T (p.Ser921Phe)
c.2921C>T (p.Ser974Phe)
c.2942C>T (p.Ser981Phe)
n.3069C>T
c.2636C>T (p.Ser879Phe)
c.2894C>T (p.Ser965Phe)
c.2789C>T (p.Ser930Phe)
c.2735C>T (p.Ser912Phe)
c.2813C>T (p.Ser938Phe)
c.2564C>T (p.Ser855Phe)
c.2795C>T (p.Ser932Phe)
c.1721C>T (p.Ser574Phe)
n.2776C>T
1g.151406114G>CCA341947491POGZc.2969C>G (p.Ser990Cys)
c.2762C>G (p.Ser921Cys)
c.2921C>G (p.Ser974Cys)
c.2942C>G (p.Ser981Cys)
n.3069C>G
c.2636C>G (p.Ser879Cys)
c.2894C>G (p.Ser965Cys)
c.2789C>G (p.Ser930Cys)
c.2735C>G (p.Ser912Cys)
c.2813C>G (p.Ser938Cys)
c.2564C>G (p.Ser855Cys)
c.2795C>G (p.Ser932Cys)
c.1721C>G (p.Ser574Cys)
n.2776C>G
1g.151406114G>TCA341947493POGZc.2969C>A (p.Ser990Tyr)
c.2762C>A (p.Ser921Tyr)
c.2921C>A (p.Ser974Tyr)
c.2942C>A (p.Ser981Tyr)
n.3069C>A
c.2636C>A (p.Ser879Tyr)
c.2894C>A (p.Ser965Tyr)
c.2789C>A (p.Ser930Tyr)
c.2735C>A (p.Ser912Tyr)
c.2813C>A (p.Ser938Tyr)
c.2564C>A (p.Ser855Tyr)
c.2795C>A (p.Ser932Tyr)
c.1721C>A (p.Ser574Tyr)
n.2776C>A
1g.151406115A>CCA341947497POGZc.2968T>G (p.Ser990Ala)
c.2761T>G (p.Ser921Ala)
c.2920T>G (p.Ser974Ala)
c.2941T>G (p.Ser981Ala)
n.3068T>G
c.2635T>G (p.Ser879Ala)
c.2893T>G (p.Ser965Ala)
c.2788T>G (p.Ser930Ala)
c.2734T>G (p.Ser912Ala)
c.2812T>G (p.Ser938Ala)
c.2563T>G (p.Ser855Ala)
c.2794T>G (p.Ser932Ala)
c.1720T>G (p.Ser574Ala)
n.2775T>G
 gnomAD v4
1g.151406115A>GCA341947502POGZc.2968T>C (p.Ser990Pro)
c.2761T>C (p.Ser921Pro)
c.2920T>C (p.Ser974Pro)
c.2941T>C (p.Ser981Pro)
n.3068T>C
c.2635T>C (p.Ser879Pro)
c.2893T>C (p.Ser965Pro)
c.2788T>C (p.Ser930Pro)
c.2734T>C (p.Ser912Pro)
c.2812T>C (p.Ser938Pro)
c.2563T>C (p.Ser855Pro)
c.2794T>C (p.Ser932Pro)
c.1720T>C (p.Ser574Pro)
n.2775T>C
1g.151406115A>TCA341947500POGZc.2968T>A (p.Ser990Thr)
c.2761T>A (p.Ser921Thr)
c.2920T>A (p.Ser974Thr)
c.2941T>A (p.Ser981Thr)
n.3068T>A
c.2635T>A (p.Ser879Thr)
c.2893T>A (p.Ser965Thr)
c.2788T>A (p.Ser930Thr)
c.2734T>A (p.Ser912Thr)
c.2812T>A (p.Ser938Thr)
c.2563T>A (p.Ser855Thr)
c.2794T>A (p.Ser932Thr)
c.1720T>A (p.Ser574Thr)
n.2775T>A
1g.151406116C>ACA420909942POGZc.2967G>T (p.Leu989=)
c.2760G>T (p.Leu920=)
c.2919G>T (p.Leu973=)
c.2940G>T (p.Leu980=)
n.3067G>T
c.2634G>T (p.Leu878=)
c.2892G>T (p.Leu964=)
c.2787G>T (p.Leu929=)
c.2733G>T (p.Leu911=)
c.2811G>T (p.Leu937=)
c.2562G>T (p.Leu854=)
c.2793G>T (p.Leu931=)
c.1719G>T (p.Leu573=)
n.2774G>T
1g.151406116C=CA2479570514POGZc.2967G= (p.Leu989=)
c.2760G= (p.Leu920=)
c.2919G= (p.Leu973=)
c.2940G= (p.Leu980=)
n.3067G=
c.2634G= (p.Leu878=)
c.2892G= (p.Leu964=)
c.2787G= (p.Leu929=)
c.2733G= (p.Leu911=)
c.2811G= (p.Leu937=)
c.2562G= (p.Leu854=)
c.2793G= (p.Leu931=)
c.1719G= (p.Leu573=)
n.2774G=
1g.151406116C>GCA420909943POGZc.2967G>C (p.Leu989=)
c.2760G>C (p.Leu920=)
c.2919G>C (p.Leu973=)
c.2940G>C (p.Leu980=)
n.3067G>C
c.2634G>C (p.Leu878=)
c.2892G>C (p.Leu964=)
c.2787G>C (p.Leu929=)
c.2733G>C (p.Leu911=)
c.2811G>C (p.Leu937=)
c.2562G>C (p.Leu854=)
c.2793G>C (p.Leu931=)
c.1719G>C (p.Leu573=)
n.2774G>C
1g.151406116C>TCA1091034POGZc.2967G>A (p.Leu989=)
c.2760G>A (p.Leu920=)
c.2919G>A (p.Leu973=)
c.2940G>A (p.Leu980=)
n.3067G>A
c.2634G>A (p.Leu878=)
c.2892G>A (p.Leu964=)
c.2787G>A (p.Leu929=)
c.2733G>A (p.Leu911=)
c.2811G>A (p.Leu937=)
c.2562G>A (p.Leu854=)
c.2793G>A (p.Leu931=)
c.1719G>A (p.Leu573=)
n.2774G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406117A=CA2479570515POGZc.2966T= (p.Leu989=)
c.2759T= (p.Leu920=)
c.2918T= (p.Leu973=)
c.2939T= (p.Leu980=)
n.3066T=
c.2633T= (p.Leu878=)
c.2891T= (p.Leu964=)
c.2786T= (p.Leu929=)
c.2732T= (p.Leu911=)
c.2810T= (p.Leu937=)
c.2561T= (p.Leu854=)
c.2792T= (p.Leu931=)
c.1718T= (p.Leu573=)
n.2773T=
1g.151406117A>CCA341947512POGZc.2966T>G (p.Leu989Arg)
c.2759T>G (p.Leu920Arg)
c.2918T>G (p.Leu973Arg)
c.2939T>G (p.Leu980Arg)
n.3066T>G
c.2633T>G (p.Leu878Arg)
c.2891T>G (p.Leu964Arg)
c.2786T>G (p.Leu929Arg)
c.2732T>G (p.Leu911Arg)
c.2810T>G (p.Leu937Arg)
c.2561T>G (p.Leu854Arg)
c.2792T>G (p.Leu931Arg)
c.1718T>G (p.Leu573Arg)
n.2773T>G
1g.151406117A>GCA341947514POGZc.2966T>C (p.Leu989Pro)
c.2759T>C (p.Leu920Pro)
c.2918T>C (p.Leu973Pro)
c.2939T>C (p.Leu980Pro)
n.3066T>C
c.2633T>C (p.Leu878Pro)
c.2891T>C (p.Leu964Pro)
c.2786T>C (p.Leu929Pro)
c.2732T>C (p.Leu911Pro)
c.2810T>C (p.Leu937Pro)
c.2561T>C (p.Leu854Pro)
c.2792T>C (p.Leu931Pro)
c.1718T>C (p.Leu573Pro)
n.2773T>C
1g.151406117A>TCA341947517POGZc.2966T>A (p.Leu989Gln)
c.2759T>A (p.Leu920Gln)
c.2918T>A (p.Leu973Gln)
c.2939T>A (p.Leu980Gln)
n.3066T>A
c.2633T>A (p.Leu878Gln)
c.2891T>A (p.Leu964Gln)
c.2786T>A (p.Leu929Gln)
c.2732T>A (p.Leu911Gln)
c.2810T>A (p.Leu937Gln)
c.2561T>A (p.Leu854Gln)
c.2792T>A (p.Leu931Gln)
c.1718T>A (p.Leu573Gln)
n.2773T>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406118G>ACA420909949POGZc.2965C>T (p.Leu989=)
c.2758C>T (p.Leu920=)
c.2917C>T (p.Leu973=)
c.2938C>T (p.Leu980=)
n.3065C>T
c.2632C>T (p.Leu878=)
c.2890C>T (p.Leu964=)
c.2785C>T (p.Leu929=)
c.2731C>T (p.Leu911=)
c.2809C>T (p.Leu937=)
c.2560C>T (p.Leu854=)
c.2791C>T (p.Leu931=)
c.1717C>T (p.Leu573=)
n.2772C>T
1g.151406118G>CCA341947521POGZc.2965C>G (p.Leu989Val)
c.2758C>G (p.Leu920Val)
c.2917C>G (p.Leu973Val)
c.2938C>G (p.Leu980Val)
n.3065C>G
c.2632C>G (p.Leu878Val)
c.2890C>G (p.Leu964Val)
c.2785C>G (p.Leu929Val)
c.2731C>G (p.Leu911Val)
c.2809C>G (p.Leu937Val)
c.2560C>G (p.Leu854Val)
c.2791C>G (p.Leu931Val)
c.1717C>G (p.Leu573Val)
n.2772C>G
1g.151406118G>TCA341947522POGZc.2965C>A (p.Leu989Met)
c.2758C>A (p.Leu920Met)
c.2917C>A (p.Leu973Met)
c.2938C>A (p.Leu980Met)
n.3065C>A
c.2632C>A (p.Leu878Met)
c.2890C>A (p.Leu964Met)
c.2785C>A (p.Leu929Met)
c.2731C>A (p.Leu911Met)
c.2809C>A (p.Leu937Met)
c.2560C>A (p.Leu854Met)
c.2791C>A (p.Leu931Met)
c.1717C>A (p.Leu573Met)
n.2772C>A
1g.151406119C>ACA341947526POGZc.2964G>T (p.Gln988His)
c.2757G>T (p.Gln919His)
c.2916G>T (p.Gln972His)
c.2937G>T (p.Gln979His)
n.3064G>T
c.2631G>T (p.Gln877His)
c.2889G>T (p.Gln963His)
c.2784G>T (p.Gln928His)
c.2730G>T (p.Gln910His)
c.2808G>T (p.Gln936His)
c.2559G>T (p.Gln853His)
c.2790G>T (p.Gln930His)
c.1716G>T (p.Gln572His)
n.2771G>T
1g.151406119C=CA2479570516POGZc.2964G= (p.Gln988=)
c.2757G= (p.Gln919=)
c.2916G= (p.Gln972=)
c.2937G= (p.Gln979=)
n.3064G=
c.2631G= (p.Gln877=)
c.2889G= (p.Gln963=)
c.2784G= (p.Gln928=)
c.2730G= (p.Gln910=)
c.2808G= (p.Gln936=)
c.2559G= (p.Gln853=)
c.2790G= (p.Gln930=)
c.1716G= (p.Gln572=)
n.2771G=
1g.151406119C>GCA341947529POGZc.2964G>C (p.Gln988His)
c.2757G>C (p.Gln919His)
c.2916G>C (p.Gln972His)
c.2937G>C (p.Gln979His)
n.3064G>C
c.2631G>C (p.Gln877His)
c.2889G>C (p.Gln963His)
c.2784G>C (p.Gln928His)
c.2730G>C (p.Gln910His)
c.2808G>C (p.Gln936His)
c.2559G>C (p.Gln853His)
c.2790G>C (p.Gln930His)
c.1716G>C (p.Gln572His)
n.2771G>C
1g.151406119C>TCA1091035POGZc.2964G>A (p.Gln988=)
c.2757G>A (p.Gln919=)
c.2916G>A (p.Gln972=)
c.2937G>A (p.Gln979=)
n.3064G>A
c.2631G>A (p.Gln877=)
c.2889G>A (p.Gln963=)
c.2784G>A (p.Gln928=)
c.2730G>A (p.Gln910=)
c.2808G>A (p.Gln936=)
c.2559G>A (p.Gln853=)
c.2790G>A (p.Gln930=)
c.1716G>A (p.Gln572=)
n.2771G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406120T>ACA341947546POGZc.2963A>T (p.Gln988Leu)
c.2756A>T (p.Gln919Leu)
c.2915A>T (p.Gln972Leu)
c.2936A>T (p.Gln979Leu)
n.3063A>T
c.2630A>T (p.Gln877Leu)
c.2888A>T (p.Gln963Leu)
c.2783A>T (p.Gln928Leu)
c.2729A>T (p.Gln910Leu)
c.2807A>T (p.Gln936Leu)
c.2558A>T (p.Gln853Leu)
c.2789A>T (p.Gln930Leu)
c.1715A>T (p.Gln572Leu)
n.2770A>T
1g.151406120T>CCA341947543POGZc.2963A>G (p.Gln988Arg)
c.2756A>G (p.Gln919Arg)
c.2915A>G (p.Gln972Arg)
c.2936A>G (p.Gln979Arg)
n.3063A>G
c.2630A>G (p.Gln877Arg)
c.2888A>G (p.Gln963Arg)
c.2783A>G (p.Gln928Arg)
c.2729A>G (p.Gln910Arg)
c.2807A>G (p.Gln936Arg)
c.2558A>G (p.Gln853Arg)
c.2789A>G (p.Gln930Arg)
c.1715A>G (p.Gln572Arg)
n.2770A>G
1g.151406120T>GCA341947539POGZc.2963A>C (p.Gln988Pro)
c.2756A>C (p.Gln919Pro)
c.2915A>C (p.Gln972Pro)
c.2936A>C (p.Gln979Pro)
n.3063A>C
c.2630A>C (p.Gln877Pro)
c.2888A>C (p.Gln963Pro)
c.2783A>C (p.Gln928Pro)
c.2729A>C (p.Gln910Pro)
c.2807A>C (p.Gln936Pro)
c.2558A>C (p.Gln853Pro)
c.2789A>C (p.Gln930Pro)
c.1715A>C (p.Gln572Pro)
n.2770A>C
1g.151406121G>ACA341947549POGZc.2962C>T (p.Gln988Ter)
c.2755C>T (p.Gln919Ter)
c.2914C>T (p.Gln972Ter)
c.2935C>T (p.Gln979Ter)
n.3062C>T
c.2629C>T (p.Gln877Ter)
c.2887C>T (p.Gln963Ter)
c.2782C>T (p.Gln928Ter)
c.2728C>T (p.Gln910Ter)
c.2806C>T (p.Gln936Ter)
c.2557C>T (p.Gln853Ter)
c.2788C>T (p.Gln930Ter)
c.1714C>T (p.Gln572Ter)
n.2769C>T
 ClinVar dbSNP
1g.151406121G>CCA341947550POGZc.2962C>G (p.Gln988Glu)
c.2755C>G (p.Gln919Glu)
c.2914C>G (p.Gln972Glu)
c.2935C>G (p.Gln979Glu)
n.3062C>G
c.2629C>G (p.Gln877Glu)
c.2887C>G (p.Gln963Glu)
c.2782C>G (p.Gln928Glu)
c.2728C>G (p.Gln910Glu)
c.2806C>G (p.Gln936Glu)
c.2557C>G (p.Gln853Glu)
c.2788C>G (p.Gln930Glu)
c.1714C>G (p.Gln572Glu)
n.2769C>G
1g.151406121G=CA2479570517POGZc.2962C= (p.Gln988=)
c.2755C= (p.Gln919=)
c.2914C= (p.Gln972=)
c.2935C= (p.Gln979=)
n.3062C=
c.2629C= (p.Gln877=)
c.2887C= (p.Gln963=)
c.2782C= (p.Gln928=)
c.2728C= (p.Gln910=)
c.2806C= (p.Gln936=)
c.2557C= (p.Gln853=)
c.2788C= (p.Gln930=)
c.1714C= (p.Gln572=)
n.2769C=
1g.151406121G>TCA341947551POGZc.2962C>A (p.Gln988Lys)
c.2755C>A (p.Gln919Lys)
c.2914C>A (p.Gln972Lys)
c.2935C>A (p.Gln979Lys)
n.3062C>A
c.2629C>A (p.Gln877Lys)
c.2887C>A (p.Gln963Lys)
c.2782C>A (p.Gln928Lys)
c.2728C>A (p.Gln910Lys)
c.2806C>A (p.Gln936Lys)
c.2557C>A (p.Gln853Lys)
c.2788C>A (p.Gln930Lys)
c.1714C>A (p.Gln572Lys)
n.2769C>A
1g.151406122C>ACA341947553POGZc.2961G>T (p.Glu987Asp)
c.2754G>T (p.Glu918Asp)
c.2913G>T (p.Glu971Asp)
c.2934G>T (p.Glu978Asp)
n.3061G>T
c.2628G>T (p.Glu876Asp)
c.2886G>T (p.Glu962Asp)
c.2781G>T (p.Glu927Asp)
c.2727G>T (p.Glu909Asp)
c.2805G>T (p.Glu935Asp)
c.2556G>T (p.Glu852Asp)
c.2787G>T (p.Glu929Asp)
c.1713G>T (p.Glu571Asp)
n.2768G>T
1g.151406122C=CA1141367361POGZc.2961G= (p.Glu987=)
c.2754G= (p.Glu918=)
c.2913G= (p.Glu971=)
c.2934G= (p.Glu978=)
n.3061G=
c.2628G= (p.Glu876=)
c.2886G= (p.Glu962=)
c.2781G= (p.Glu927=)
c.2727G= (p.Glu909=)
c.2805G= (p.Glu935=)
c.2556G= (p.Glu852=)
c.2787G= (p.Glu929=)
c.1713G= (p.Glu571=)
n.2768G=
1g.151406122C>GCA341947555POGZc.2961G>C (p.Glu987Asp)
c.2754G>C (p.Glu918Asp)
c.2913G>C (p.Glu971Asp)
c.2934G>C (p.Glu978Asp)
n.3061G>C
c.2628G>C (p.Glu876Asp)
c.2886G>C (p.Glu962Asp)
c.2781G>C (p.Glu927Asp)
c.2727G>C (p.Glu909Asp)
c.2805G>C (p.Glu935Asp)
c.2556G>C (p.Glu852Asp)
c.2787G>C (p.Glu929Asp)
c.1713G>C (p.Glu571Asp)
n.2768G>C
1g.151406122C>TCA1091036POGZc.2961G>A (p.Glu987=)
c.2754G>A (p.Glu918=)
c.2913G>A (p.Glu971=)
c.2934G>A (p.Glu978=)
n.3061G>A
c.2628G>A (p.Glu876=)
c.2886G>A (p.Glu962=)
c.2781G>A (p.Glu927=)
c.2727G>A (p.Glu909=)
c.2805G>A (p.Glu935=)
c.2556G>A (p.Glu852=)
c.2787G>A (p.Glu929=)
c.1713G>A (p.Glu571=)
n.2768G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406123T>ACA341947593POGZc.2960A>T (p.Glu987Val)
c.2753A>T (p.Glu918Val)
c.2912A>T (p.Glu971Val)
c.2933A>T (p.Glu978Val)
n.3060A>T
c.2627A>T (p.Glu876Val)
c.2885A>T (p.Glu962Val)
c.2780A>T (p.Glu927Val)
c.2726A>T (p.Glu909Val)
c.2804A>T (p.Glu935Val)
c.2555A>T (p.Glu852Val)
c.2786A>T (p.Glu929Val)
c.1712A>T (p.Glu571Val)
n.2767A>T
1g.151406123T>CCA341947596POGZc.2960A>G (p.Glu987Gly)
c.2753A>G (p.Glu918Gly)
c.2912A>G (p.Glu971Gly)
c.2933A>G (p.Glu978Gly)
n.3060A>G
c.2627A>G (p.Glu876Gly)
c.2885A>G (p.Glu962Gly)
c.2780A>G (p.Glu927Gly)
c.2726A>G (p.Glu909Gly)
c.2804A>G (p.Glu935Gly)
c.2555A>G (p.Glu852Gly)
c.2786A>G (p.Glu929Gly)
c.1712A>G (p.Glu571Gly)
n.2767A>G
1g.151406123T>GCA341947598POGZc.2960A>C (p.Glu987Ala)
c.2753A>C (p.Glu918Ala)
c.2912A>C (p.Glu971Ala)
c.2933A>C (p.Glu978Ala)
n.3060A>C
c.2627A>C (p.Glu876Ala)
c.2885A>C (p.Glu962Ala)
c.2780A>C (p.Glu927Ala)
c.2726A>C (p.Glu909Ala)
c.2804A>C (p.Glu935Ala)
c.2555A>C (p.Glu852Ala)
c.2786A>C (p.Glu929Ala)
c.1712A>C (p.Glu571Ala)
n.2767A>C
1g.151406124C>ACA341947606POGZc.2959G>T (p.Glu987Ter)
c.2752G>T (p.Glu918Ter)
c.2911G>T (p.Glu971Ter)
c.2932G>T (p.Glu978Ter)
n.3059G>T
c.2626G>T (p.Glu876Ter)
c.2884G>T (p.Glu962Ter)
c.2779G>T (p.Glu927Ter)
c.2725G>T (p.Glu909Ter)
c.2803G>T (p.Glu935Ter)
c.2554G>T (p.Glu852Ter)
c.2785G>T (p.Glu929Ter)
c.1711G>T (p.Glu571Ter)
n.2766G>T
1g.151406124C>GCA341947609POGZc.2959G>C (p.Glu987Gln)
c.2752G>C (p.Glu918Gln)
c.2911G>C (p.Glu971Gln)
c.2932G>C (p.Glu978Gln)
n.3059G>C
c.2626G>C (p.Glu876Gln)
c.2884G>C (p.Glu962Gln)
c.2779G>C (p.Glu927Gln)
c.2725G>C (p.Glu909Gln)
c.2803G>C (p.Glu935Gln)
c.2554G>C (p.Glu852Gln)
c.2785G>C (p.Glu929Gln)
c.1711G>C (p.Glu571Gln)
n.2766G>C
1g.151406124C>TCA341947623POGZc.2959G>A (p.Glu987Lys)
c.2752G>A (p.Glu918Lys)
c.2911G>A (p.Glu971Lys)
c.2932G>A (p.Glu978Lys)
n.3059G>A
c.2626G>A (p.Glu876Lys)
c.2884G>A (p.Glu962Lys)
c.2779G>A (p.Glu927Lys)
c.2725G>A (p.Glu909Lys)
c.2803G>A (p.Glu935Lys)
c.2554G>A (p.Glu852Lys)
c.2785G>A (p.Glu929Lys)
c.1711G>A (p.Glu571Lys)
n.2766G>A
1g.151406125C>ACA341947632POGZc.2958G>T (p.Lys986Asn)
c.2751G>T (p.Lys917Asn)
c.2910G>T (p.Lys970Asn)
c.2931G>T (p.Lys977Asn)
n.3058G>T
c.2625G>T (p.Lys875Asn)
c.2883G>T (p.Lys961Asn)
c.2778G>T (p.Lys926Asn)
c.2724G>T (p.Lys908Asn)
c.2802G>T (p.Lys934Asn)
c.2553G>T (p.Lys851Asn)
c.2784G>T (p.Lys928Asn)
c.1710G>T (p.Lys570Asn)
n.2765G>T
1g.151406125C=CA1143365921POGZc.2958G= (p.Lys986=)
c.2751G= (p.Lys917=)
c.2910G= (p.Lys970=)
c.2931G= (p.Lys977=)
n.3058G=
c.2625G= (p.Lys875=)
c.2883G= (p.Lys961=)
c.2778G= (p.Lys926=)
c.2724G= (p.Lys908=)
c.2802G= (p.Lys934=)
c.2553G= (p.Lys851=)
c.2784G= (p.Lys928=)
c.1710G= (p.Lys570=)
n.2765G=
1g.151406125C>GCA341947629POGZc.2958G>C (p.Lys986Asn)
c.2751G>C (p.Lys917Asn)
c.2910G>C (p.Lys970Asn)
c.2931G>C (p.Lys977Asn)
n.3058G>C
c.2625G>C (p.Lys875Asn)
c.2883G>C (p.Lys961Asn)
c.2778G>C (p.Lys926Asn)
c.2724G>C (p.Lys908Asn)
c.2802G>C (p.Lys934Asn)
c.2553G>C (p.Lys851Asn)
c.2784G>C (p.Lys928Asn)
c.1710G>C (p.Lys570Asn)
n.2765G>C
1g.151406125C>TCA1091037POGZc.2958G>A (p.Lys986=)
c.2751G>A (p.Lys917=)
c.2910G>A (p.Lys970=)
c.2931G>A (p.Lys977=)
n.3058G>A
c.2625G>A (p.Lys875=)
c.2883G>A (p.Lys961=)
c.2778G>A (p.Lys926=)
c.2724G>A (p.Lys908=)
c.2802G>A (p.Lys934=)
c.2553G>A (p.Lys851=)
c.2784G>A (p.Lys928=)
c.1710G>A (p.Lys570=)
n.2765G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406126T>ACA341947636POGZc.2957A>T (p.Lys986Met)
c.2750A>T (p.Lys917Met)
c.2909A>T (p.Lys970Met)
c.2930A>T (p.Lys977Met)
n.3057A>T
c.2624A>T (p.Lys875Met)
c.2882A>T (p.Lys961Met)
c.2777A>T (p.Lys926Met)
c.2723A>T (p.Lys908Met)
c.2801A>T (p.Lys934Met)
c.2552A>T (p.Lys851Met)
c.2783A>T (p.Lys928Met)
c.1709A>T (p.Lys570Met)
n.2764A>T
1g.151406126T>CCA341947641POGZc.2957A>G (p.Lys986Arg)
c.2750A>G (p.Lys917Arg)
c.2909A>G (p.Lys970Arg)
c.2930A>G (p.Lys977Arg)
n.3057A>G
c.2624A>G (p.Lys875Arg)
c.2882A>G (p.Lys961Arg)
c.2777A>G (p.Lys926Arg)
c.2723A>G (p.Lys908Arg)
c.2801A>G (p.Lys934Arg)
c.2552A>G (p.Lys851Arg)
c.2783A>G (p.Lys928Arg)
c.1709A>G (p.Lys570Arg)
n.2764A>G
1g.151406126T>GCA341947650POGZc.2957A>C (p.Lys986Thr)
c.2750A>C (p.Lys917Thr)
c.2909A>C (p.Lys970Thr)
c.2930A>C (p.Lys977Thr)
n.3057A>C
c.2624A>C (p.Lys875Thr)
c.2882A>C (p.Lys961Thr)
c.2777A>C (p.Lys926Thr)
c.2723A>C (p.Lys908Thr)
c.2801A>C (p.Lys934Thr)
c.2552A>C (p.Lys851Thr)
c.2783A>C (p.Lys928Thr)
c.1709A>C (p.Lys570Thr)
n.2764A>C
1g.151406127T>ACA341947655POGZc.2956A>T (p.Lys986Ter)
c.2749A>T (p.Lys917Ter)
c.2908A>T (p.Lys970Ter)
c.2929A>T (p.Lys977Ter)
n.3056A>T
c.2623A>T (p.Lys875Ter)
c.2881A>T (p.Lys961Ter)
c.2776A>T (p.Lys926Ter)
c.2722A>T (p.Lys908Ter)
c.2800A>T (p.Lys934Ter)
c.2551A>T (p.Lys851Ter)
c.2782A>T (p.Lys928Ter)
c.1708A>T (p.Lys570Ter)
n.2763A>T
1g.151406127T>CCA341947658POGZc.2956A>G (p.Lys986Glu)
c.2749A>G (p.Lys917Glu)
c.2908A>G (p.Lys970Glu)
c.2929A>G (p.Lys977Glu)
n.3056A>G
c.2623A>G (p.Lys875Glu)
c.2881A>G (p.Lys961Glu)
c.2776A>G (p.Lys926Glu)
c.2722A>G (p.Lys908Glu)
c.2800A>G (p.Lys934Glu)
c.2551A>G (p.Lys851Glu)
c.2782A>G (p.Lys928Glu)
c.1708A>G (p.Lys570Glu)
n.2763A>G
1g.151406127T>GCA341947661POGZc.2956A>C (p.Lys986Gln)
c.2749A>C (p.Lys917Gln)
c.2908A>C (p.Lys970Gln)
c.2929A>C (p.Lys977Gln)
n.3056A>C
c.2623A>C (p.Lys875Gln)
c.2881A>C (p.Lys961Gln)
c.2776A>C (p.Lys926Gln)
c.2722A>C (p.Lys908Gln)
c.2800A>C (p.Lys934Gln)
c.2551A>C (p.Lys851Gln)
c.2782A>C (p.Lys928Gln)
c.1708A>C (p.Lys570Gln)
n.2763A>C
1g.151406128T>ACA341947674POGZc.2955A>T (p.Lys985Asn)
c.2748A>T (p.Lys916Asn)
c.2907A>T (p.Lys969Asn)
c.2928A>T (p.Lys976Asn)
n.3055A>T
c.2622A>T (p.Lys874Asn)
c.2880A>T (p.Lys960Asn)
c.2775A>T (p.Lys925Asn)
c.2721A>T (p.Lys907Asn)
c.2799A>T (p.Lys933Asn)
c.2550A>T (p.Lys850Asn)
c.2781A>T (p.Lys927Asn)
c.1707A>T (p.Lys569Asn)
n.2762A>T
1g.151406128T>CCA420909959POGZc.2955A>G (p.Lys985=)
c.2748A>G (p.Lys916=)
c.2907A>G (p.Lys969=)
c.2928A>G (p.Lys976=)
n.3055A>G
c.2622A>G (p.Lys874=)
c.2880A>G (p.Lys960=)
c.2775A>G (p.Lys925=)
c.2721A>G (p.Lys907=)
c.2799A>G (p.Lys933=)
c.2550A>G (p.Lys850=)
c.2781A>G (p.Lys927=)
c.1707A>G (p.Lys569=)
n.2762A>G
1g.151406128T>GCA341947677POGZc.2955A>C (p.Lys985Asn)
c.2748A>C (p.Lys916Asn)
c.2907A>C (p.Lys969Asn)
c.2928A>C (p.Lys976Asn)
n.3055A>C
c.2622A>C (p.Lys874Asn)
c.2880A>C (p.Lys960Asn)
c.2775A>C (p.Lys925Asn)
c.2721A>C (p.Lys907Asn)
c.2799A>C (p.Lys933Asn)
c.2550A>C (p.Lys850Asn)
c.2781A>C (p.Lys927Asn)
c.1707A>C (p.Lys569Asn)
n.2762A>C
1g.151406129T>ACA341947684POGZc.2954A>T (p.Lys985Ile)
c.2747A>T (p.Lys916Ile)
c.2906A>T (p.Lys969Ile)
c.2927A>T (p.Lys976Ile)
n.3054A>T
c.2621A>T (p.Lys874Ile)
c.2879A>T (p.Lys960Ile)
c.2774A>T (p.Lys925Ile)
c.2720A>T (p.Lys907Ile)
c.2798A>T (p.Lys933Ile)
c.2549A>T (p.Lys850Ile)
c.2780A>T (p.Lys927Ile)
c.1706A>T (p.Lys569Ile)
n.2761A>T
1g.151406129T>CCA29569232POGZc.2954A>G (p.Lys985Arg)
c.2747A>G (p.Lys916Arg)
c.2906A>G (p.Lys969Arg)
c.2927A>G (p.Lys976Arg)
n.3054A>G
c.2621A>G (p.Lys874Arg)
c.2879A>G (p.Lys960Arg)
c.2774A>G (p.Lys925Arg)
c.2720A>G (p.Lys907Arg)
c.2798A>G (p.Lys933Arg)
c.2549A>G (p.Lys850Arg)
c.2780A>G (p.Lys927Arg)
c.1706A>G (p.Lys569Arg)
n.2761A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406129T>GCA341947689POGZc.2954A>C (p.Lys985Thr)
c.2747A>C (p.Lys916Thr)
c.2906A>C (p.Lys969Thr)
c.2927A>C (p.Lys976Thr)
n.3054A>C
c.2621A>C (p.Lys874Thr)
c.2879A>C (p.Lys960Thr)
c.2774A>C (p.Lys925Thr)
c.2720A>C (p.Lys907Thr)
c.2798A>C (p.Lys933Thr)
c.2549A>C (p.Lys850Thr)
c.2780A>C (p.Lys927Thr)
c.1706A>C (p.Lys569Thr)
n.2761A>C
1g.151406129T=CA1141960376POGZc.2954A= (p.Lys985=)
c.2747A= (p.Lys916=)
c.2906A= (p.Lys969=)
c.2927A= (p.Lys976=)
n.3054A=
c.2621A= (p.Lys874=)
c.2879A= (p.Lys960=)
c.2774A= (p.Lys925=)
c.2720A= (p.Lys907=)
c.2798A= (p.Lys933=)
c.2549A= (p.Lys850=)
c.2780A= (p.Lys927=)
c.1706A= (p.Lys569=)
n.2761A=
1g.151406130T>ACA341947700POGZc.2953A>T (p.Lys985Ter)
c.2746A>T (p.Lys916Ter)
c.2905A>T (p.Lys969Ter)
c.2926A>T (p.Lys976Ter)
n.3053A>T
c.2620A>T (p.Lys874Ter)
c.2878A>T (p.Lys960Ter)
c.2773A>T (p.Lys925Ter)
c.2719A>T (p.Lys907Ter)
c.2797A>T (p.Lys933Ter)
c.2548A>T (p.Lys850Ter)
c.2779A>T (p.Lys927Ter)
c.1705A>T (p.Lys569Ter)
n.2760A>T
1g.151406130T>CCA341947695POGZc.2953A>G (p.Lys985Glu)
c.2746A>G (p.Lys916Glu)
c.2905A>G (p.Lys969Glu)
c.2926A>G (p.Lys976Glu)
n.3053A>G
c.2620A>G (p.Lys874Glu)
c.2878A>G (p.Lys960Glu)
c.2773A>G (p.Lys925Glu)
c.2719A>G (p.Lys907Glu)
c.2797A>G (p.Lys933Glu)
c.2548A>G (p.Lys850Glu)
c.2779A>G (p.Lys927Glu)
c.1705A>G (p.Lys569Glu)
n.2760A>G
1g.151406130T>GCA341947693POGZc.2953A>C (p.Lys985Gln)
c.2746A>C (p.Lys916Gln)
c.2905A>C (p.Lys969Gln)
c.2926A>C (p.Lys976Gln)
n.3053A>C
c.2620A>C (p.Lys874Gln)
c.2878A>C (p.Lys960Gln)
c.2773A>C (p.Lys925Gln)
c.2719A>C (p.Lys907Gln)
c.2797A>C (p.Lys933Gln)
c.2548A>C (p.Lys850Gln)
c.2779A>C (p.Lys927Gln)
c.1705A>C (p.Lys569Gln)
n.2760A>C
1g.151406131G>ACA420909963POGZc.2952C>T (p.Gly984=)
c.2745C>T (p.Gly915=)
c.2904C>T (p.Gly968=)
c.2925C>T (p.Gly975=)
n.3052C>T
c.2619C>T (p.Gly873=)
c.2877C>T (p.Gly959=)
c.2772C>T (p.Gly924=)
c.2718C>T (p.Gly906=)
c.2796C>T (p.Gly932=)
c.2547C>T (p.Gly849=)
c.2778C>T (p.Gly926=)
c.1704C>T (p.Gly568=)
n.2759C>T
 gnomAD v4
1g.151406131G>CCA420909965POGZc.2952C>G (p.Gly984=)
c.2745C>G (p.Gly915=)
c.2904C>G (p.Gly968=)
c.2925C>G (p.Gly975=)
n.3052C>G
c.2619C>G (p.Gly873=)
c.2877C>G (p.Gly959=)
c.2772C>G (p.Gly924=)
c.2718C>G (p.Gly906=)
c.2796C>G (p.Gly932=)
c.2547C>G (p.Gly849=)
c.2778C>G (p.Gly926=)
c.1704C>G (p.Gly568=)
n.2759C>G
1g.151406131G=CA2479570518POGZc.2952C= (p.Gly984=)
c.2745C= (p.Gly915=)
c.2904C= (p.Gly968=)
c.2925C= (p.Gly975=)
n.3052C=
c.2619C= (p.Gly873=)
c.2877C= (p.Gly959=)
c.2772C= (p.Gly924=)
c.2718C= (p.Gly906=)
c.2796C= (p.Gly932=)
c.2547C= (p.Gly849=)
c.2778C= (p.Gly926=)
c.1704C= (p.Gly568=)
n.2759C=
1g.151406131G>TCA420909966POGZc.2952C>A (p.Gly984=)
c.2745C>A (p.Gly915=)
c.2904C>A (p.Gly968=)
c.2925C>A (p.Gly975=)
n.3052C>A
c.2619C>A (p.Gly873=)
c.2877C>A (p.Gly959=)
c.2772C>A (p.Gly924=)
c.2718C>A (p.Gly906=)
c.2796C>A (p.Gly932=)
c.2547C>A (p.Gly849=)
c.2778C>A (p.Gly926=)
c.1704C>A (p.Gly568=)
n.2759C>A
 dbSNP
1g.151406132C>ACA341947703POGZc.2951G>T (p.Gly984Val)
c.2744G>T (p.Gly915Val)
c.2903G>T (p.Gly968Val)
c.2924G>T (p.Gly975Val)
n.3051G>T
c.2618G>T (p.Gly873Val)
c.2876G>T (p.Gly959Val)
c.2771G>T (p.Gly924Val)
c.2717G>T (p.Gly906Val)
c.2795G>T (p.Gly932Val)
c.2546G>T (p.Gly849Val)
c.2777G>T (p.Gly926Val)
c.1703G>T (p.Gly568Val)
n.2758G>T
1g.151406132C=CA2479570519POGZc.2951G= (p.Gly984=)
c.2744G= (p.Gly915=)
c.2903G= (p.Gly968=)
c.2924G= (p.Gly975=)
n.3051G=
c.2618G= (p.Gly873=)
c.2876G= (p.Gly959=)
c.2771G= (p.Gly924=)
c.2717G= (p.Gly906=)
c.2795G= (p.Gly932=)
c.2546G= (p.Gly849=)
c.2777G= (p.Gly926=)
c.1703G= (p.Gly568=)
n.2758G=
1g.151406132C>GCA341947706POGZc.2951G>C (p.Gly984Ala)
c.2744G>C (p.Gly915Ala)
c.2903G>C (p.Gly968Ala)
c.2924G>C (p.Gly975Ala)
n.3051G>C
c.2618G>C (p.Gly873Ala)
c.2876G>C (p.Gly959Ala)
c.2771G>C (p.Gly924Ala)
c.2717G>C (p.Gly906Ala)
c.2795G>C (p.Gly932Ala)
c.2546G>C (p.Gly849Ala)
c.2777G>C (p.Gly926Ala)
c.1703G>C (p.Gly568Ala)
n.2758G>C
1g.151406132C>TCA1091038POGZc.2951G>A (p.Gly984Asp)
c.2744G>A (p.Gly915Asp)
c.2903G>A (p.Gly968Asp)
c.2924G>A (p.Gly975Asp)
n.3051G>A
c.2618G>A (p.Gly873Asp)
c.2876G>A (p.Gly959Asp)
c.2771G>A (p.Gly924Asp)
c.2717G>A (p.Gly906Asp)
c.2795G>A (p.Gly932Asp)
c.2546G>A (p.Gly849Asp)
c.2777G>A (p.Gly926Asp)
c.1703G>A (p.Gly568Asp)
n.2758G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406133C>ACA341947713POGZc.2950G>T (p.Gly984Cys)
c.2743G>T (p.Gly915Cys)
c.2902G>T (p.Gly968Cys)
c.2923G>T (p.Gly975Cys)
n.3050G>T
c.2617G>T (p.Gly873Cys)
c.2875G>T (p.Gly959Cys)
c.2770G>T (p.Gly924Cys)
c.2716G>T (p.Gly906Cys)
c.2794G>T (p.Gly932Cys)
c.2545G>T (p.Gly849Cys)
c.2776G>T (p.Gly926Cys)
c.1702G>T (p.Gly568Cys)
n.2757G>T
1g.151406133C>GCA341947716POGZc.2950G>C (p.Gly984Arg)
c.2743G>C (p.Gly915Arg)
c.2902G>C (p.Gly968Arg)
c.2923G>C (p.Gly975Arg)
n.3050G>C
c.2617G>C (p.Gly873Arg)
c.2875G>C (p.Gly959Arg)
c.2770G>C (p.Gly924Arg)
c.2716G>C (p.Gly906Arg)
c.2794G>C (p.Gly932Arg)
c.2545G>C (p.Gly849Arg)
c.2776G>C (p.Gly926Arg)
c.1702G>C (p.Gly568Arg)
n.2757G>C
1g.151406133C>TCA341947719POGZc.2950G>A (p.Gly984Ser)
c.2743G>A (p.Gly915Ser)
c.2902G>A (p.Gly968Ser)
c.2923G>A (p.Gly975Ser)
n.3050G>A
c.2617G>A (p.Gly873Ser)
c.2875G>A (p.Gly959Ser)
c.2770G>A (p.Gly924Ser)
c.2716G>A (p.Gly906Ser)
c.2794G>A (p.Gly932Ser)
c.2545G>A (p.Gly849Ser)
c.2776G>A (p.Gly926Ser)
c.1702G>A (p.Gly568Ser)
n.2757G>A
1g.151406134A=CA2479570520POGZc.2949T= (p.Val983=)
c.2742T= (p.Val914=)
c.2901T= (p.Val967=)
c.2922T= (p.Val974=)
n.3049T=
c.2616T= (p.Val872=)
c.2874T= (p.Val958=)
c.2769T= (p.Val923=)
c.2715T= (p.Val905=)
c.2793T= (p.Val931=)
c.2544T= (p.Val848=)
c.2775T= (p.Val925=)
c.1701T= (p.Val567=)
n.2756T=
1g.151406134A>CCA420909968POGZc.2949T>G (p.Val983=)
c.2742T>G (p.Val914=)
c.2901T>G (p.Val967=)
c.2922T>G (p.Val974=)
n.3049T>G
c.2616T>G (p.Val872=)
c.2874T>G (p.Val958=)
c.2769T>G (p.Val923=)
c.2715T>G (p.Val905=)
c.2793T>G (p.Val931=)
c.2544T>G (p.Val848=)
c.2775T>G (p.Val925=)
c.1701T>G (p.Val567=)
n.2756T>G
1g.151406134A>GCA420909969POGZc.2949T>C (p.Val983=)
c.2742T>C (p.Val914=)
c.2901T>C (p.Val967=)
c.2922T>C (p.Val974=)
n.3049T>C
c.2616T>C (p.Val872=)
c.2874T>C (p.Val958=)
c.2769T>C (p.Val923=)
c.2715T>C (p.Val905=)
c.2793T>C (p.Val931=)
c.2544T>C (p.Val848=)
c.2775T>C (p.Val925=)
c.1701T>C (p.Val567=)
n.2756T>C
 dbSNP
1g.151406134A>TCA420909970POGZc.2949T>A (p.Val983=)
c.2742T>A (p.Val914=)
c.2901T>A (p.Val967=)
c.2922T>A (p.Val974=)
n.3049T>A
c.2616T>A (p.Val872=)
c.2874T>A (p.Val958=)
c.2769T>A (p.Val923=)
c.2715T>A (p.Val905=)
c.2793T>A (p.Val931=)
c.2544T>A (p.Val848=)
c.2775T>A (p.Val925=)
c.1701T>A (p.Val567=)
n.2756T>A
1g.151406135A=CA2479570521POGZc.2948T= (p.Val983=)
c.2741T= (p.Val914=)
c.2900T= (p.Val967=)
c.2921T= (p.Val974=)
n.3048T=
c.2615T= (p.Val872=)
c.2873T= (p.Val958=)
c.2768T= (p.Val923=)
c.2714T= (p.Val905=)
c.2792T= (p.Val931=)
c.2543T= (p.Val848=)
c.2774T= (p.Val925=)
c.1700T= (p.Val567=)
n.2755T=
1g.151406135A>CCA341947731POGZc.2948T>G (p.Val983Gly)
c.2741T>G (p.Val914Gly)
c.2900T>G (p.Val967Gly)
c.2921T>G (p.Val974Gly)
n.3048T>G
c.2615T>G (p.Val872Gly)
c.2873T>G (p.Val958Gly)
c.2768T>G (p.Val923Gly)
c.2714T>G (p.Val905Gly)
c.2792T>G (p.Val931Gly)
c.2543T>G (p.Val848Gly)
c.2774T>G (p.Val925Gly)
c.1700T>G (p.Val567Gly)
n.2755T>G
1g.151406135A>GCA341947727POGZc.2948T>C (p.Val983Ala)
c.2741T>C (p.Val914Ala)
c.2900T>C (p.Val967Ala)
c.2921T>C (p.Val974Ala)
n.3048T>C
c.2615T>C (p.Val872Ala)
c.2873T>C (p.Val958Ala)
c.2768T>C (p.Val923Ala)
c.2714T>C (p.Val905Ala)
c.2792T>C (p.Val931Ala)
c.2543T>C (p.Val848Ala)
c.2774T>C (p.Val925Ala)
c.1700T>C (p.Val567Ala)
n.2755T>C
 dbSNP gnomAD v4
1g.151406135A>TCA341947724POGZc.2948T>A (p.Val983Asp)
c.2741T>A (p.Val914Asp)
c.2900T>A (p.Val967Asp)
c.2921T>A (p.Val974Asp)
n.3048T>A
c.2615T>A (p.Val872Asp)
c.2873T>A (p.Val958Asp)
c.2768T>A (p.Val923Asp)
c.2714T>A (p.Val905Asp)
c.2792T>A (p.Val931Asp)
c.2543T>A (p.Val848Asp)
c.2774T>A (p.Val925Asp)
c.1700T>A (p.Val567Asp)
n.2755T>A
1g.151406136C>ACA341947734POGZc.2947G>T (p.Val983Phe)
c.2740G>T (p.Val914Phe)
c.2899G>T (p.Val967Phe)
c.2920G>T (p.Val974Phe)
n.3047G>T
c.2614G>T (p.Val872Phe)
c.2872G>T (p.Val958Phe)
c.2767G>T (p.Val923Phe)
c.2713G>T (p.Val905Phe)
c.2791G>T (p.Val931Phe)
c.2542G>T (p.Val848Phe)
c.2773G>T (p.Val925Phe)
c.1699G>T (p.Val567Phe)
n.2754G>T
1g.151406136C>GCA341947736POGZc.2947G>C (p.Val983Leu)
c.2740G>C (p.Val914Leu)
c.2899G>C (p.Val967Leu)
c.2920G>C (p.Val974Leu)
n.3047G>C
c.2614G>C (p.Val872Leu)
c.2872G>C (p.Val958Leu)
c.2767G>C (p.Val923Leu)
c.2713G>C (p.Val905Leu)
c.2791G>C (p.Val931Leu)
c.2542G>C (p.Val848Leu)
c.2773G>C (p.Val925Leu)
c.1699G>C (p.Val567Leu)
n.2754G>C
1g.151406136C>TCA341947738POGZc.2947G>A (p.Val983Ile)
c.2740G>A (p.Val914Ile)
c.2899G>A (p.Val967Ile)
c.2920G>A (p.Val974Ile)
n.3047G>A
c.2614G>A (p.Val872Ile)
c.2872G>A (p.Val958Ile)
c.2767G>A (p.Val923Ile)
c.2713G>A (p.Val905Ile)
c.2791G>A (p.Val931Ile)
c.2542G>A (p.Val848Ile)
c.2773G>A (p.Val925Ile)
c.1699G>A (p.Val567Ile)
n.2754G>A
1g.151406137T>ACA420909975POGZc.2946A>T (p.Gly982=)
c.2739A>T (p.Gly913=)
c.2898A>T (p.Gly966=)
c.2919A>T (p.Gly973=)
n.3046A>T
c.2613A>T (p.Gly871=)
c.2871A>T (p.Gly957=)
c.2766A>T (p.Gly922=)
c.2712A>T (p.Gly904=)
c.2790A>T (p.Gly930=)
c.2541A>T (p.Gly847=)
c.2772A>T (p.Gly924=)
c.1698A>T (p.Gly566=)
n.2753A>T
1g.151406137T>CCA420909973POGZc.2946A>G (p.Gly982=)
c.2739A>G (p.Gly913=)
c.2898A>G (p.Gly966=)
c.2919A>G (p.Gly973=)
n.3046A>G
c.2613A>G (p.Gly871=)
c.2871A>G (p.Gly957=)
c.2766A>G (p.Gly922=)
c.2712A>G (p.Gly904=)
c.2790A>G (p.Gly930=)
c.2541A>G (p.Gly847=)
c.2772A>G (p.Gly924=)
c.1698A>G (p.Gly566=)
n.2753A>G
 dbSNP
1g.151406137T>GCA420909972POGZc.2946A>C (p.Gly982=)
c.2739A>C (p.Gly913=)
c.2898A>C (p.Gly966=)
c.2919A>C (p.Gly973=)
n.3046A>C
c.2613A>C (p.Gly871=)
c.2871A>C (p.Gly957=)
c.2766A>C (p.Gly922=)
c.2712A>C (p.Gly904=)
c.2790A>C (p.Gly930=)
c.2541A>C (p.Gly847=)
c.2772A>C (p.Gly924=)
c.1698A>C (p.Gly566=)
n.2753A>C
 gnomAD v4
1g.151406137_151406146delinsTCCACCACTACA2479570522POGZc.2937_2946delinsTAGTGGTGGA (p.Gly979=)
c.2730_2739delinsTAGTGGTGGA (p.Gly910=)
c.2889_2898delinsTAGTGGTGGA (p.Gly963=)
c.2910_2919delinsTAGTGGTGGA (p.Gly970=)
n.3037_3046delinsTAGTGGTGGA
c.2604_2613delinsTAGTGGTGGA (p.Gly868=)
c.2862_2871delinsTAGTGGTGGA (p.Gly954=)
c.2757_2766delinsTAGTGGTGGA (p.Gly919=)
c.2703_2712delinsTAGTGGTGGA (p.Gly901=)
c.2781_2790delinsTAGTGGTGGA (p.Gly927=)
c.2532_2541delinsTAGTGGTGGA (p.Gly844=)
c.2763_2772delinsTAGTGGTGGA (p.Gly921=)
c.1689_1698delinsTAGTGGTGGA (p.Gly563=)
n.2744_2753delinsTAGTGGTGGA
1g.151406138C>ACA341947746POGZc.2945G>T (p.Gly982Val)
c.2738G>T (p.Gly913Val)
c.2897G>T (p.Gly966Val)
c.2918G>T (p.Gly973Val)
n.3045G>T
c.2612G>T (p.Gly871Val)
c.2870G>T (p.Gly957Val)
c.2765G>T (p.Gly922Val)
c.2711G>T (p.Gly904Val)
c.2789G>T (p.Gly930Val)
c.2540G>T (p.Gly847Val)
c.2771G>T (p.Gly924Val)
c.1697G>T (p.Gly566Val)
n.2752G>T
1g.151406138C=CA2479570523POGZc.2945G= (p.Gly982=)
c.2738G= (p.Gly913=)
c.2897G= (p.Gly966=)
c.2918G= (p.Gly973=)
n.3045G=
c.2612G= (p.Gly871=)
c.2870G= (p.Gly957=)
c.2765G= (p.Gly922=)
c.2711G= (p.Gly904=)
c.2789G= (p.Gly930=)
c.2540G= (p.Gly847=)
c.2771G= (p.Gly924=)
c.1697G= (p.Gly566=)
n.2752G=
1g.151406138C>GCA341947748POGZc.2945G>C (p.Gly982Ala)
c.2738G>C (p.Gly913Ala)
c.2897G>C (p.Gly966Ala)
c.2918G>C (p.Gly973Ala)
n.3045G>C
c.2612G>C (p.Gly871Ala)
c.2870G>C (p.Gly957Ala)
c.2765G>C (p.Gly922Ala)
c.2711G>C (p.Gly904Ala)
c.2789G>C (p.Gly930Ala)
c.2540G>C (p.Gly847Ala)
c.2771G>C (p.Gly924Ala)
c.1697G>C (p.Gly566Ala)
n.2752G>C
1g.151406138C>TCA341947750POGZc.2945G>A (p.Gly982Glu)
c.2738G>A (p.Gly913Glu)
c.2897G>A (p.Gly966Glu)
c.2918G>A (p.Gly973Glu)
n.3045G>A
c.2612G>A (p.Gly871Glu)
c.2870G>A (p.Gly957Glu)
c.2765G>A (p.Gly922Glu)
c.2711G>A (p.Gly904Glu)
c.2789G>A (p.Gly930Glu)
c.2540G>A (p.Gly847Glu)
c.2771G>A (p.Gly924Glu)
c.1697G>A (p.Gly566Glu)
n.2752G>A
 dbSNP
1g.151406145_151406153delCA420909979POGZc.2937_2945del (p.Ser980_Gly982del)
c.2730_2738del (p.Ser911_Gly913del)
c.2889_2897del (p.Ser964_Gly966del)
c.2910_2918del (p.Ser971_Gly973del)
n.3037_3045del
c.2604_2612del (p.Ser869_Gly871del)
c.2862_2870del (p.Ser955_Gly957del)
c.2757_2765del (p.Ser920_Gly922del)
c.2703_2711del (p.Ser902_Gly904del)
c.2781_2789del (p.Ser928_Gly930del)
c.2532_2540del (p.Ser845_Gly847del)
c.2763_2771del (p.Ser922_Gly924del)
c.1689_1697del (p.Ser564_Gly566del)
n.2744_2752del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406139C>ACA341947754POGZc.2944G>T (p.Gly982Ter)
c.2737G>T (p.Gly913Ter)
c.2896G>T (p.Gly966Ter)
c.2917G>T (p.Gly973Ter)
n.3044G>T
c.2611G>T (p.Gly871Ter)
c.2869G>T (p.Gly957Ter)
c.2764G>T (p.Gly922Ter)
c.2710G>T (p.Gly904Ter)
c.2788G>T (p.Gly930Ter)
c.2539G>T (p.Gly847Ter)
c.2770G>T (p.Gly924Ter)
c.1696G>T (p.Gly566Ter)
n.2751G>T
1g.151406139C>GCA341947759POGZc.2944G>C (p.Gly982Arg)
c.2737G>C (p.Gly913Arg)
c.2896G>C (p.Gly966Arg)
c.2917G>C (p.Gly973Arg)
n.3044G>C
c.2611G>C (p.Gly871Arg)
c.2869G>C (p.Gly957Arg)
c.2764G>C (p.Gly922Arg)
c.2710G>C (p.Gly904Arg)
c.2788G>C (p.Gly930Arg)
c.2539G>C (p.Gly847Arg)
c.2770G>C (p.Gly924Arg)
c.1696G>C (p.Gly566Arg)
n.2751G>C
1g.151406139C>TCA341947756POGZc.2944G>A (p.Gly982Arg)
c.2737G>A (p.Gly913Arg)
c.2896G>A (p.Gly966Arg)
c.2917G>A (p.Gly973Arg)
n.3044G>A
c.2611G>A (p.Gly871Arg)
c.2869G>A (p.Gly957Arg)
c.2764G>A (p.Gly922Arg)
c.2710G>A (p.Gly904Arg)
c.2788G>A (p.Gly930Arg)
c.2539G>A (p.Gly847Arg)
c.2770G>A (p.Gly924Arg)
c.1696G>A (p.Gly566Arg)
n.2751G>A
1g.151406140A>CCA420909980POGZc.2943T>G (p.Gly981=)
c.2736T>G (p.Gly912=)
c.2895T>G (p.Gly965=)
c.2916T>G (p.Gly972=)
n.3043T>G
c.2610T>G (p.Gly870=)
c.2868T>G (p.Gly956=)
c.2763T>G (p.Gly921=)
c.2709T>G (p.Gly903=)
c.2787T>G (p.Gly929=)
c.2538T>G (p.Gly846=)
c.2769T>G (p.Gly923=)
c.1695T>G (p.Gly565=)
n.2750T>G
1g.151406140A>GCA420909981POGZc.2943T>C (p.Gly981=)
c.2736T>C (p.Gly912=)
c.2895T>C (p.Gly965=)
c.2916T>C (p.Gly972=)
n.3043T>C
c.2610T>C (p.Gly870=)
c.2868T>C (p.Gly956=)
c.2763T>C (p.Gly921=)
c.2709T>C (p.Gly903=)
c.2787T>C (p.Gly929=)
c.2538T>C (p.Gly846=)
c.2769T>C (p.Gly923=)
c.1695T>C (p.Gly565=)
n.2750T>C
1g.151406140A>TCA420909982POGZc.2943T>A (p.Gly981=)
c.2736T>A (p.Gly912=)
c.2895T>A (p.Gly965=)
c.2916T>A (p.Gly972=)
n.3043T>A
c.2610T>A (p.Gly870=)
c.2868T>A (p.Gly956=)
c.2763T>A (p.Gly921=)
c.2709T>A (p.Gly903=)
c.2787T>A (p.Gly929=)
c.2538T>A (p.Gly846=)
c.2769T>A (p.Gly923=)
c.1695T>A (p.Gly565=)
n.2750T>A
1g.151406141C>ACA341947763POGZc.2942G>T (p.Gly981Val)
c.2735G>T (p.Gly912Val)
c.2894G>T (p.Gly965Val)
c.2915G>T (p.Gly972Val)
n.3042G>T
c.2609G>T (p.Gly870Val)
c.2867G>T (p.Gly956Val)
c.2762G>T (p.Gly921Val)
c.2708G>T (p.Gly903Val)
c.2786G>T (p.Gly929Val)
c.2537G>T (p.Gly846Val)
c.2768G>T (p.Gly923Val)
c.1694G>T (p.Gly565Val)
n.2749G>T
 dbSNP
1g.151406141C=CA2479570524POGZc.2942G= (p.Gly981=)
c.2735G= (p.Gly912=)
c.2894G= (p.Gly965=)
c.2915G= (p.Gly972=)
n.3042G=
c.2609G= (p.Gly870=)
c.2867G= (p.Gly956=)
c.2762G= (p.Gly921=)
c.2708G= (p.Gly903=)
c.2786G= (p.Gly929=)
c.2537G= (p.Gly846=)
c.2768G= (p.Gly923=)
c.1694G= (p.Gly565=)
n.2749G=
1g.151406141C>GCA341947768POGZc.2942G>C (p.Gly981Ala)
c.2735G>C (p.Gly912Ala)
c.2894G>C (p.Gly965Ala)
c.2915G>C (p.Gly972Ala)
n.3042G>C
c.2609G>C (p.Gly870Ala)
c.2867G>C (p.Gly956Ala)
c.2762G>C (p.Gly921Ala)
c.2708G>C (p.Gly903Ala)
c.2786G>C (p.Gly929Ala)
c.2537G>C (p.Gly846Ala)
c.2768G>C (p.Gly923Ala)
c.1694G>C (p.Gly565Ala)
n.2749G>C
1g.151406141C>TCA341947771POGZc.2942G>A (p.Gly981Asp)
c.2735G>A (p.Gly912Asp)
c.2894G>A (p.Gly965Asp)
c.2915G>A (p.Gly972Asp)
n.3042G>A
c.2609G>A (p.Gly870Asp)
c.2867G>A (p.Gly956Asp)
c.2762G>A (p.Gly921Asp)
c.2708G>A (p.Gly903Asp)
c.2786G>A (p.Gly929Asp)
c.2537G>A (p.Gly846Asp)
c.2768G>A (p.Gly923Asp)
c.1694G>A (p.Gly565Asp)
n.2749G>A
1g.151406142C>ACA341947775POGZc.2941G>T (p.Gly981Cys)
c.2734G>T (p.Gly912Cys)
c.2893G>T (p.Gly965Cys)
c.2914G>T (p.Gly972Cys)
n.3041G>T
c.2608G>T (p.Gly870Cys)
c.2866G>T (p.Gly956Cys)
c.2761G>T (p.Gly921Cys)
c.2707G>T (p.Gly903Cys)
c.2785G>T (p.Gly929Cys)
c.2536G>T (p.Gly846Cys)
c.2767G>T (p.Gly923Cys)
c.1693G>T (p.Gly565Cys)
n.2748G>T
1g.151406142C=CA2479570525POGZc.2941G= (p.Gly981=)
c.2734G= (p.Gly912=)
c.2893G= (p.Gly965=)
c.2914G= (p.Gly972=)
n.3041G=
c.2608G= (p.Gly870=)
c.2866G= (p.Gly956=)
c.2761G= (p.Gly921=)
c.2707G= (p.Gly903=)
c.2785G= (p.Gly929=)
c.2536G= (p.Gly846=)
c.2767G= (p.Gly923=)
c.1693G= (p.Gly565=)
n.2748G=
1g.151406142C>GCA341947776POGZc.2941G>C (p.Gly981Arg)
c.2734G>C (p.Gly912Arg)
c.2893G>C (p.Gly965Arg)
c.2914G>C (p.Gly972Arg)
n.3041G>C
c.2608G>C (p.Gly870Arg)
c.2866G>C (p.Gly956Arg)
c.2761G>C (p.Gly921Arg)
c.2707G>C (p.Gly903Arg)
c.2785G>C (p.Gly929Arg)
c.2536G>C (p.Gly846Arg)
c.2767G>C (p.Gly923Arg)
c.1693G>C (p.Gly565Arg)
n.2748G>C
1g.151406142C>TCA29569235POGZc.2941G>A (p.Gly981Ser)
c.2734G>A (p.Gly912Ser)
c.2893G>A (p.Gly965Ser)
c.2914G>A (p.Gly972Ser)
n.3041G>A
c.2608G>A (p.Gly870Ser)
c.2866G>A (p.Gly956Ser)
c.2761G>A (p.Gly921Ser)
c.2707G>A (p.Gly903Ser)
c.2785G>A (p.Gly929Ser)
c.2536G>A (p.Gly846Ser)
c.2767G>A (p.Gly923Ser)
c.1693G>A (p.Gly565Ser)
n.2748G>A
 dbSNP gnomAD v3 gnomAD v4
1g.151406143A>CCA341947782POGZc.2940T>G (p.Ser980Arg)
c.2733T>G (p.Ser911Arg)
c.2892T>G (p.Ser964Arg)
c.2913T>G (p.Ser971Arg)
n.3040T>G
c.2607T>G (p.Ser869Arg)
c.2865T>G (p.Ser955Arg)
c.2760T>G (p.Ser920Arg)
c.2706T>G (p.Ser902Arg)
c.2784T>G (p.Ser928Arg)
c.2535T>G (p.Ser845Arg)
c.2766T>G (p.Ser922Arg)
c.1692T>G (p.Ser564Arg)
n.2747T>G
1g.151406143A>GCA420909985POGZc.2940T>C (p.Ser980=)
c.2733T>C (p.Ser911=)
c.2892T>C (p.Ser964=)
c.2913T>C (p.Ser971=)
n.3040T>C
c.2607T>C (p.Ser869=)
c.2865T>C (p.Ser955=)
c.2760T>C (p.Ser920=)
c.2706T>C (p.Ser902=)
c.2784T>C (p.Ser928=)
c.2535T>C (p.Ser845=)
c.2766T>C (p.Ser922=)
c.1692T>C (p.Ser564=)
n.2747T>C
1g.151406143A>TCA341947785POGZc.2940T>A (p.Ser980Arg)
c.2733T>A (p.Ser911Arg)
c.2892T>A (p.Ser964Arg)
c.2913T>A (p.Ser971Arg)
n.3040T>A
c.2607T>A (p.Ser869Arg)
c.2865T>A (p.Ser955Arg)
c.2760T>A (p.Ser920Arg)
c.2706T>A (p.Ser902Arg)
c.2784T>A (p.Ser928Arg)
c.2535T>A (p.Ser845Arg)
c.2766T>A (p.Ser922Arg)
c.1692T>A (p.Ser564Arg)
n.2747T>A
1g.151406144C>ACA341947788POGZc.2939G>T (p.Ser980Ile)
c.2732G>T (p.Ser911Ile)
c.2891G>T (p.Ser964Ile)
c.2912G>T (p.Ser971Ile)
n.3039G>T
c.2606G>T (p.Ser869Ile)
c.2864G>T (p.Ser955Ile)
c.2759G>T (p.Ser920Ile)
c.2705G>T (p.Ser902Ile)
c.2783G>T (p.Ser928Ile)
c.2534G>T (p.Ser845Ile)
c.2765G>T (p.Ser922Ile)
c.1691G>T (p.Ser564Ile)
n.2746G>T
1g.151406144C>GCA341947789POGZc.2939G>C (p.Ser980Thr)
c.2732G>C (p.Ser911Thr)
c.2891G>C (p.Ser964Thr)
c.2912G>C (p.Ser971Thr)
n.3039G>C
c.2606G>C (p.Ser869Thr)
c.2864G>C (p.Ser955Thr)
c.2759G>C (p.Ser920Thr)
c.2705G>C (p.Ser902Thr)
c.2783G>C (p.Ser928Thr)
c.2534G>C (p.Ser845Thr)
c.2765G>C (p.Ser922Thr)
c.1691G>C (p.Ser564Thr)
n.2746G>C
1g.151406144C>TCA341947792POGZc.2939G>A (p.Ser980Asn)
c.2732G>A (p.Ser911Asn)
c.2891G>A (p.Ser964Asn)
c.2912G>A (p.Ser971Asn)
n.3039G>A
c.2606G>A (p.Ser869Asn)
c.2864G>A (p.Ser955Asn)
c.2759G>A (p.Ser920Asn)
c.2705G>A (p.Ser902Asn)
c.2783G>A (p.Ser928Asn)
c.2534G>A (p.Ser845Asn)
c.2765G>A (p.Ser922Asn)
c.1691G>A (p.Ser564Asn)
n.2746G>A
1g.151406145T>ACA341947796POGZc.2938A>T (p.Ser980Cys)
c.2731A>T (p.Ser911Cys)
c.2890A>T (p.Ser964Cys)
c.2911A>T (p.Ser971Cys)
n.3038A>T
c.2605A>T (p.Ser869Cys)
c.2863A>T (p.Ser955Cys)
c.2758A>T (p.Ser920Cys)
c.2704A>T (p.Ser902Cys)
c.2782A>T (p.Ser928Cys)
c.2533A>T (p.Ser845Cys)
c.2764A>T (p.Ser922Cys)
c.1690A>T (p.Ser564Cys)
n.2745A>T
1g.151406145T>CCA29569239POGZc.2938A>G (p.Ser980Gly)
c.2731A>G (p.Ser911Gly)
c.2890A>G (p.Ser964Gly)
c.2911A>G (p.Ser971Gly)
n.3038A>G
c.2605A>G (p.Ser869Gly)
c.2863A>G (p.Ser955Gly)
c.2758A>G (p.Ser920Gly)
c.2704A>G (p.Ser902Gly)
c.2782A>G (p.Ser928Gly)
c.2533A>G (p.Ser845Gly)
c.2764A>G (p.Ser922Gly)
c.1690A>G (p.Ser564Gly)
n.2745A>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406145T>GCA341947799POGZc.2938A>C (p.Ser980Arg)
c.2731A>C (p.Ser911Arg)
c.2890A>C (p.Ser964Arg)
c.2911A>C (p.Ser971Arg)
n.3038A>C
c.2605A>C (p.Ser869Arg)
c.2863A>C (p.Ser955Arg)
c.2758A>C (p.Ser920Arg)
c.2704A>C (p.Ser902Arg)
c.2782A>C (p.Ser928Arg)
c.2533A>C (p.Ser845Arg)
c.2764A>C (p.Ser922Arg)
c.1690A>C (p.Ser564Arg)
n.2745A>C
1g.151406145T=CA2479570526POGZc.2938A= (p.Ser980=)
c.2731A= (p.Ser911=)
c.2890A= (p.Ser964=)
c.2911A= (p.Ser971=)
n.3038A=
c.2605A= (p.Ser869=)
c.2863A= (p.Ser955=)
c.2758A= (p.Ser920=)
c.2704A= (p.Ser902=)
c.2782A= (p.Ser928=)
c.2533A= (p.Ser845=)
c.2764A= (p.Ser922=)
c.1690A= (p.Ser564=)
n.2745A=
1g.151406145_151406154delinsTACCACCACCCA2479570527POGZc.2929_2938delinsGGTGGTGGTA (p.Gly977=)
c.2722_2731delinsGGTGGTGGTA (p.Gly908=)
c.2881_2890delinsGGTGGTGGTA (p.Gly961=)
c.2902_2911delinsGGTGGTGGTA (p.Gly968=)
n.3029_3038delinsGGTGGTGGTA
c.2596_2605delinsGGTGGTGGTA (p.Gly866=)
c.2854_2863delinsGGTGGTGGTA (p.Gly952=)
c.2749_2758delinsGGTGGTGGTA (p.Gly917=)
c.2695_2704delinsGGTGGTGGTA (p.Gly899=)
c.2773_2782delinsGGTGGTGGTA (p.Gly925=)
c.2524_2533delinsGGTGGTGGTA (p.Gly842=)
c.2755_2764delinsGGTGGTGGTA (p.Gly919=)
c.1681_1690delinsGGTGGTGGTA (p.Gly561=)
n.2736_2745delinsGGTGGTGGTA
1g.151406146A=CA2479570528POGZc.2937T= (p.Gly979=)
c.2730T= (p.Gly910=)
c.2889T= (p.Gly963=)
c.2910T= (p.Gly970=)
n.3037T=
c.2604T= (p.Gly868=)
c.2862T= (p.Gly954=)
c.2757T= (p.Gly919=)
c.2703T= (p.Gly901=)
c.2781T= (p.Gly927=)
c.2532T= (p.Gly844=)
c.2763T= (p.Gly921=)
c.1689T= (p.Gly563=)
n.2744T=
1g.151406146A>CCA420909987POGZc.2937T>G (p.Gly979=)
c.2730T>G (p.Gly910=)
c.2889T>G (p.Gly963=)
c.2910T>G (p.Gly970=)
n.3037T>G
c.2604T>G (p.Gly868=)
c.2862T>G (p.Gly954=)
c.2757T>G (p.Gly919=)
c.2703T>G (p.Gly901=)
c.2781T>G (p.Gly927=)
c.2532T>G (p.Gly844=)
c.2763T>G (p.Gly921=)
c.1689T>G (p.Gly563=)
n.2744T>G
1g.151406146A>GCA420909988POGZc.2937T>C (p.Gly979=)
c.2730T>C (p.Gly910=)
c.2889T>C (p.Gly963=)
c.2910T>C (p.Gly970=)
n.3037T>C
c.2604T>C (p.Gly868=)
c.2862T>C (p.Gly954=)
c.2757T>C (p.Gly919=)
c.2703T>C (p.Gly901=)
c.2781T>C (p.Gly927=)
c.2532T>C (p.Gly844=)
c.2763T>C (p.Gly921=)
c.1689T>C (p.Gly563=)
n.2744T>C
 dbSNP gnomAD v4
1g.151406146A>TCA420909989POGZc.2937T>A (p.Gly979=)
c.2730T>A (p.Gly910=)
c.2889T>A (p.Gly963=)
c.2910T>A (p.Gly970=)
n.3037T>A
c.2604T>A (p.Gly868=)
c.2862T>A (p.Gly954=)
c.2757T>A (p.Gly919=)
c.2703T>A (p.Gly901=)
c.2781T>A (p.Gly927=)
c.2532T>A (p.Gly844=)
c.2763T>A (p.Gly921=)
c.1689T>A (p.Gly563=)
n.2744T>A
1g.151406155_151406157dupCA916309723POGZc.2935_2937dup (p.Gly979_Ser980insGly)
c.2728_2730dup (p.Gly910_Ser911insGly)
c.2887_2889dup (p.Gly963_Ser964insGly)
c.2908_2910dup (p.Gly970_Ser971insGly)
n.3035_3037dup
c.2602_2604dup (p.Gly868_Ser869insGly)
c.2860_2862dup (p.Gly954_Ser955insGly)
c.2755_2757dup (p.Gly919_Ser920insGly)
c.2701_2703dup (p.Gly901_Ser902insGly)
c.2779_2781dup (p.Gly927_Ser928insGly)
c.2530_2532dup (p.Gly844_Ser845insGly)
c.2761_2763dup (p.Gly921_Ser922insGly)
c.1687_1689dup (p.Gly563_Ser564insGly)
n.2742_2744dup
 dbSNP gnomAD v4
1g.151406152_151406157dupCA2647920374POGZc.2932_2937dup (p.Gly979_Ser980insGlyGly)
c.2725_2730dup (p.Gly910_Ser911insGlyGly)
c.2884_2889dup (p.Gly963_Ser964insGlyGly)
c.2905_2910dup (p.Gly970_Ser971insGlyGly)
n.3032_3037dup
c.2599_2604dup (p.Gly868_Ser869insGlyGly)
c.2857_2862dup (p.Gly954_Ser955insGlyGly)
c.2752_2757dup (p.Gly919_Ser920insGlyGly)
c.2698_2703dup (p.Gly901_Ser902insGlyGly)
c.2776_2781dup (p.Gly927_Ser928insGlyGly)
c.2527_2532dup (p.Gly844_Ser845insGlyGly)
c.2758_2763dup (p.Gly921_Ser922insGlyGly)
c.1684_1689dup (p.Gly563_Ser564insGlyGly)
n.2739_2744dup
 gnomAD v4
1g.151406155_151406157delCA2574056014POGZc.2935_2937del (p.Gly979del)
c.2728_2730del (p.Gly910del)
c.2887_2889del (p.Gly963del)
c.2908_2910del (p.Gly970del)
n.3035_3037del
c.2602_2604del (p.Gly868del)
c.2860_2862del (p.Gly954del)
c.2755_2757del (p.Gly919del)
c.2701_2703del (p.Gly901del)
c.2779_2781del (p.Gly927del)
c.2530_2532del (p.Gly844del)
c.2761_2763del (p.Gly921del)
c.1687_1689del (p.Gly563del)
n.2742_2744del
 gnomAD v4
1g.151406149_151406157delCA526660631POGZc.2929_2937del (p.Gly977_Gly979del)
c.2722_2730del (p.Gly908_Gly910del)
c.2881_2889del (p.Gly961_Gly963del)
c.2902_2910del (p.Gly968_Gly970del)
n.3029_3037del
c.2596_2604del (p.Gly866_Gly868del)
c.2854_2862del (p.Gly952_Gly954del)
c.2749_2757del (p.Gly917_Gly919del)
c.2695_2703del (p.Gly899_Gly901del)
c.2773_2781del (p.Gly925_Gly927del)
c.2524_2532del (p.Gly842_Gly844del)
c.2755_2763del (p.Gly919_Gly921del)
c.1681_1689del (p.Gly561_Gly563del)
n.2736_2744del
 dbSNP gnomAD v2 gnomAD v4
1g.151406147C>ACA1091039POGZc.2936G>T (p.Gly979Val)
c.2729G>T (p.Gly910Val)
c.2888G>T (p.Gly963Val)
c.2909G>T (p.Gly970Val)
n.3036G>T
c.2603G>T (p.Gly868Val)
c.2861G>T (p.Gly954Val)
c.2756G>T (p.Gly919Val)
c.2702G>T (p.Gly901Val)
c.2780G>T (p.Gly927Val)
c.2531G>T (p.Gly844Val)
c.2762G>T (p.Gly921Val)
c.1688G>T (p.Gly563Val)
n.2743G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406147C=CA2479570529POGZc.2936G= (p.Gly979=)
c.2729G= (p.Gly910=)
c.2888G= (p.Gly963=)
c.2909G= (p.Gly970=)
n.3036G=
c.2603G= (p.Gly868=)
c.2861G= (p.Gly954=)
c.2756G= (p.Gly919=)
c.2702G= (p.Gly901=)
c.2780G= (p.Gly927=)
c.2531G= (p.Gly844=)
c.2762G= (p.Gly921=)
c.1688G= (p.Gly563=)
n.2743G=
1g.151406147C>GCA341947803POGZc.2936G>C (p.Gly979Ala)
c.2729G>C (p.Gly910Ala)
c.2888G>C (p.Gly963Ala)
c.2909G>C (p.Gly970Ala)
n.3036G>C
c.2603G>C (p.Gly868Ala)
c.2861G>C (p.Gly954Ala)
c.2756G>C (p.Gly919Ala)
c.2702G>C (p.Gly901Ala)
c.2780G>C (p.Gly927Ala)
c.2531G>C (p.Gly844Ala)
c.2762G>C (p.Gly921Ala)
c.1688G>C (p.Gly563Ala)
n.2743G>C
1g.151406147C>TCA341947806POGZc.2936G>A (p.Gly979Asp)
c.2729G>A (p.Gly910Asp)
c.2888G>A (p.Gly963Asp)
c.2909G>A (p.Gly970Asp)
n.3036G>A
c.2603G>A (p.Gly868Asp)
c.2861G>A (p.Gly954Asp)
c.2756G>A (p.Gly919Asp)
c.2702G>A (p.Gly901Asp)
c.2780G>A (p.Gly927Asp)
c.2531G>A (p.Gly844Asp)
c.2762G>A (p.Gly921Asp)
c.1688G>A (p.Gly563Asp)
n.2743G>A
 dbSNP gnomAD v4
1g.151406148C>ACA341947829POGZc.2935G>T (p.Gly979Cys)
c.2728G>T (p.Gly910Cys)
c.2887G>T (p.Gly963Cys)
c.2908G>T (p.Gly970Cys)
n.3035G>T
c.2602G>T (p.Gly868Cys)
c.2860G>T (p.Gly954Cys)
c.2755G>T (p.Gly919Cys)
c.2701G>T (p.Gly901Cys)
c.2779G>T (p.Gly927Cys)
c.2530G>T (p.Gly844Cys)
c.2761G>T (p.Gly921Cys)
c.1687G>T (p.Gly563Cys)
n.2742G>T
 COSMIC COSMIC
1g.151406148C>GCA341947831POGZc.2935G>C (p.Gly979Arg)
c.2728G>C (p.Gly910Arg)
c.2887G>C (p.Gly963Arg)
c.2908G>C (p.Gly970Arg)
n.3035G>C
c.2602G>C (p.Gly868Arg)
c.2860G>C (p.Gly954Arg)
c.2755G>C (p.Gly919Arg)
c.2701G>C (p.Gly901Arg)
c.2779G>C (p.Gly927Arg)
c.2530G>C (p.Gly844Arg)
c.2761G>C (p.Gly921Arg)
c.1687G>C (p.Gly563Arg)
n.2742G>C
 gnomAD v4
1g.151406148C>TCA341947835POGZc.2935G>A (p.Gly979Ser)
c.2728G>A (p.Gly910Ser)
c.2887G>A (p.Gly963Ser)
c.2908G>A (p.Gly970Ser)
n.3035G>A
c.2602G>A (p.Gly868Ser)
c.2860G>A (p.Gly954Ser)
c.2755G>A (p.Gly919Ser)
c.2701G>A (p.Gly901Ser)
c.2779G>A (p.Gly927Ser)
c.2530G>A (p.Gly844Ser)
c.2761G>A (p.Gly921Ser)
c.1687G>A (p.Gly563Ser)
n.2742G>A
 gnomAD v4
1g.151406149A>CCA420909991POGZc.2934T>G (p.Gly978=)
c.2727T>G (p.Gly909=)
c.2886T>G (p.Gly962=)
c.2907T>G (p.Gly969=)
n.3034T>G
c.2601T>G (p.Gly867=)
c.2859T>G (p.Gly953=)
c.2754T>G (p.Gly918=)
c.2700T>G (p.Gly900=)
c.2778T>G (p.Gly926=)
c.2529T>G (p.Gly843=)
c.2760T>G (p.Gly920=)
c.1686T>G (p.Gly562=)
n.2741T>G
 gnomAD v4
1g.151406149A>GCA420909992POGZc.2934T>C (p.Gly978=)
c.2727T>C (p.Gly909=)
c.2886T>C (p.Gly962=)
c.2907T>C (p.Gly969=)
n.3034T>C
c.2601T>C (p.Gly867=)
c.2859T>C (p.Gly953=)
c.2754T>C (p.Gly918=)
c.2700T>C (p.Gly900=)
c.2778T>C (p.Gly926=)
c.2529T>C (p.Gly843=)
c.2760T>C (p.Gly920=)
c.1686T>C (p.Gly562=)
n.2741T>C
 gnomAD v4
1g.151406149A>TCA420909993POGZc.2934T>A (p.Gly978=)
c.2727T>A (p.Gly909=)
c.2886T>A (p.Gly962=)
c.2907T>A (p.Gly969=)
n.3034T>A
c.2601T>A (p.Gly867=)
c.2859T>A (p.Gly953=)
c.2754T>A (p.Gly918=)
c.2700T>A (p.Gly900=)
c.2778T>A (p.Gly926=)
c.2529T>A (p.Gly843=)
c.2760T>A (p.Gly920=)
c.1686T>A (p.Gly562=)
n.2741T>A
1g.151406150C>ACA341947841POGZc.2933G>T (p.Gly978Val)
c.2726G>T (p.Gly909Val)
c.2885G>T (p.Gly962Val)
c.2906G>T (p.Gly969Val)
n.3033G>T
c.2600G>T (p.Gly867Val)
c.2858G>T (p.Gly953Val)
c.2753G>T (p.Gly918Val)
c.2699G>T (p.Gly900Val)
c.2777G>T (p.Gly926Val)
c.2528G>T (p.Gly843Val)
c.2759G>T (p.Gly920Val)
c.1685G>T (p.Gly562Val)
n.2740G>T
1g.151406150C>GCA341947843POGZc.2933G>C (p.Gly978Ala)
c.2726G>C (p.Gly909Ala)
c.2885G>C (p.Gly962Ala)
c.2906G>C (p.Gly969Ala)
n.3033G>C
c.2600G>C (p.Gly867Ala)
c.2858G>C (p.Gly953Ala)
c.2753G>C (p.Gly918Ala)
c.2699G>C (p.Gly900Ala)
c.2777G>C (p.Gly926Ala)
c.2528G>C (p.Gly843Ala)
c.2759G>C (p.Gly920Ala)
c.1685G>C (p.Gly562Ala)
n.2740G>C
1g.151406150C>TCA341947844POGZc.2933G>A (p.Gly978Asp)
c.2726G>A (p.Gly909Asp)
c.2885G>A (p.Gly962Asp)
c.2906G>A (p.Gly969Asp)
n.3033G>A
c.2600G>A (p.Gly867Asp)
c.2858G>A (p.Gly953Asp)
c.2753G>A (p.Gly918Asp)
c.2699G>A (p.Gly900Asp)
c.2777G>A (p.Gly926Asp)
c.2528G>A (p.Gly843Asp)
c.2759G>A (p.Gly920Asp)
c.1685G>A (p.Gly562Asp)
n.2740G>A
1g.151406151C>ACA341947849POGZc.2932G>T (p.Gly978Cys)
c.2725G>T (p.Gly909Cys)
c.2884G>T (p.Gly962Cys)
c.2905G>T (p.Gly969Cys)
n.3032G>T
c.2599G>T (p.Gly867Cys)
c.2857G>T (p.Gly953Cys)
c.2752G>T (p.Gly918Cys)
c.2698G>T (p.Gly900Cys)
c.2776G>T (p.Gly926Cys)
c.2527G>T (p.Gly843Cys)
c.2758G>T (p.Gly920Cys)
c.1684G>T (p.Gly562Cys)
n.2739G>T
1g.151406151C=CA2479570530POGZc.2932G= (p.Gly978=)
c.2725G= (p.Gly909=)
c.2884G= (p.Gly962=)
c.2905G= (p.Gly969=)
n.3032G=
c.2599G= (p.Gly867=)
c.2857G= (p.Gly953=)
c.2752G= (p.Gly918=)
c.2698G= (p.Gly900=)
c.2776G= (p.Gly926=)
c.2527G= (p.Gly843=)
c.2758G= (p.Gly920=)
c.1684G= (p.Gly562=)
n.2739G=
1g.151406151C>GCA341947851POGZc.2932G>C (p.Gly978Arg)
c.2725G>C (p.Gly909Arg)
c.2884G>C (p.Gly962Arg)
c.2905G>C (p.Gly969Arg)
n.3032G>C
c.2599G>C (p.Gly867Arg)
c.2857G>C (p.Gly953Arg)
c.2752G>C (p.Gly918Arg)
c.2698G>C (p.Gly900Arg)
c.2776G>C (p.Gly926Arg)
c.2527G>C (p.Gly843Arg)
c.2758G>C (p.Gly920Arg)
c.1684G>C (p.Gly562Arg)
n.2739G>C
1g.151406151C>TCA341947855POGZc.2932G>A (p.Gly978Ser)
c.2725G>A (p.Gly909Ser)
c.2884G>A (p.Gly962Ser)
c.2905G>A (p.Gly969Ser)
n.3032G>A
c.2599G>A (p.Gly867Ser)
c.2857G>A (p.Gly953Ser)
c.2752G>A (p.Gly918Ser)
c.2698G>A (p.Gly900Ser)
c.2776G>A (p.Gly926Ser)
c.2527G>A (p.Gly843Ser)
c.2758G>A (p.Gly920Ser)
c.1684G>A (p.Gly562Ser)
n.2739G>A
 gnomAD v4
1g.151406152A>CCA420909996POGZc.2931T>G (p.Gly977=)
c.2724T>G (p.Gly908=)
c.2883T>G (p.Gly961=)
c.2904T>G (p.Gly968=)
n.3031T>G
c.2598T>G (p.Gly866=)
c.2856T>G (p.Gly952=)
c.2751T>G (p.Gly917=)
c.2697T>G (p.Gly899=)
c.2775T>G (p.Gly925=)
c.2526T>G (p.Gly842=)
c.2757T>G (p.Gly919=)
c.1683T>G (p.Gly561=)
n.2738T>G
1g.151406152A>GCA420909998POGZc.2931T>C (p.Gly977=)
c.2724T>C (p.Gly908=)
c.2883T>C (p.Gly961=)
c.2904T>C (p.Gly968=)
n.3031T>C
c.2598T>C (p.Gly866=)
c.2856T>C (p.Gly952=)
c.2751T>C (p.Gly917=)
c.2697T>C (p.Gly899=)
c.2775T>C (p.Gly925=)
c.2526T>C (p.Gly842=)
c.2757T>C (p.Gly919=)
c.1683T>C (p.Gly561=)
n.2738T>C
1g.151406152A>TCA420909997POGZc.2931T>A (p.Gly977=)
c.2724T>A (p.Gly908=)
c.2883T>A (p.Gly961=)
c.2904T>A (p.Gly968=)
n.3031T>A
c.2598T>A (p.Gly866=)
c.2856T>A (p.Gly952=)
c.2751T>A (p.Gly917=)
c.2697T>A (p.Gly899=)
c.2775T>A (p.Gly925=)
c.2526T>A (p.Gly842=)
c.2757T>A (p.Gly919=)
c.1683T>A (p.Gly561=)
n.2738T>A
1g.151406152dupCA658795513POGZc.2931dup (p.Gly978TrpfsTer3)
c.2724dup (p.Gly909TrpfsTer3)
c.2883dup (p.Gly962TrpfsTer3)
c.2904dup (p.Gly969TrpfsTer3)
n.3031dup
c.2598dup (p.Gly867TrpfsTer3)
c.2856dup (p.Gly953TrpfsTer3)
c.2751dup (p.Gly918TrpfsTer3)
c.2697dup (p.Gly900TrpfsTer3)
c.2775dup (p.Gly926TrpfsTer3)
c.2526dup (p.Gly843TrpfsTer3)
c.2757dup (p.Gly920TrpfsTer3)
c.1683dup (p.Gly562TrpfsTer3)
n.2738dup
 ClinVar dbSNP
1g.151406153C>ACA1091040POGZc.2930G>T (p.Gly977Val)
c.2723G>T (p.Gly908Val)
c.2882G>T (p.Gly961Val)
c.2903G>T (p.Gly968Val)
n.3030G>T
c.2597G>T (p.Gly866Val)
c.2855G>T (p.Gly952Val)
c.2750G>T (p.Gly917Val)
c.2696G>T (p.Gly899Val)
c.2774G>T (p.Gly925Val)
c.2525G>T (p.Gly842Val)
c.2756G>T (p.Gly919Val)
c.1682G>T (p.Gly561Val)
n.2737G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406153C=CA1148295195POGZc.2930G= (p.Gly977=)
c.2723G= (p.Gly908=)
c.2882G= (p.Gly961=)
c.2903G= (p.Gly968=)
n.3030G=
c.2597G= (p.Gly866=)
c.2855G= (p.Gly952=)
c.2750G= (p.Gly917=)
c.2696G= (p.Gly899=)
c.2774G= (p.Gly925=)
c.2525G= (p.Gly842=)
c.2756G= (p.Gly919=)
c.1682G= (p.Gly561=)
n.2737G=
1g.151406153C>GCA341947864POGZc.2930G>C (p.Gly977Ala)
c.2723G>C (p.Gly908Ala)
c.2882G>C (p.Gly961Ala)
c.2903G>C (p.Gly968Ala)
n.3030G>C
c.2597G>C (p.Gly866Ala)
c.2855G>C (p.Gly952Ala)
c.2750G>C (p.Gly917Ala)
c.2696G>C (p.Gly899Ala)
c.2774G>C (p.Gly925Ala)
c.2525G>C (p.Gly842Ala)
c.2756G>C (p.Gly919Ala)
c.1682G>C (p.Gly561Ala)
n.2737G>C
 dbSNP gnomAD v4
1g.151406153C>TCA1091041POGZc.2930G>A (p.Gly977Asp)
c.2723G>A (p.Gly908Asp)
c.2882G>A (p.Gly961Asp)
c.2903G>A (p.Gly968Asp)
n.3030G>A
c.2597G>A (p.Gly866Asp)
c.2855G>A (p.Gly952Asp)
c.2750G>A (p.Gly917Asp)
c.2696G>A (p.Gly899Asp)
c.2774G>A (p.Gly925Asp)
c.2525G>A (p.Gly842Asp)
c.2756G>A (p.Gly919Asp)
c.1682G>A (p.Gly561Asp)
n.2737G>A
 dbSNP ExAC gnomAD v2
1g.151406154C>ACA341947879POGZc.2929G>T (p.Gly977Cys)
c.2722G>T (p.Gly908Cys)
c.2881G>T (p.Gly961Cys)
c.2902G>T (p.Gly968Cys)
n.3029G>T
c.2596G>T (p.Gly866Cys)
c.2854G>T (p.Gly952Cys)
c.2749G>T (p.Gly917Cys)
c.2695G>T (p.Gly899Cys)
c.2773G>T (p.Gly925Cys)
c.2524G>T (p.Gly842Cys)
c.2755G>T (p.Gly919Cys)
c.1681G>T (p.Gly561Cys)
n.2736G>T
1g.151406154C=CA2479570531POGZc.2929G= (p.Gly977=)
c.2722G= (p.Gly908=)
c.2881G= (p.Gly961=)
c.2902G= (p.Gly968=)
n.3029G=
c.2596G= (p.Gly866=)
c.2854G= (p.Gly952=)
c.2749G= (p.Gly917=)
c.2695G= (p.Gly899=)
c.2773G= (p.Gly925=)
c.2524G= (p.Gly842=)
c.2755G= (p.Gly919=)
c.1681G= (p.Gly561=)
n.2736G=
1g.151406154C>GCA341947886POGZc.2929G>C (p.Gly977Arg)
c.2722G>C (p.Gly908Arg)
c.2881G>C (p.Gly961Arg)
c.2902G>C (p.Gly968Arg)
n.3029G>C
c.2596G>C (p.Gly866Arg)
c.2854G>C (p.Gly952Arg)
c.2749G>C (p.Gly917Arg)
c.2695G>C (p.Gly899Arg)
c.2773G>C (p.Gly925Arg)
c.2524G>C (p.Gly842Arg)
c.2755G>C (p.Gly919Arg)
c.1681G>C (p.Gly561Arg)
n.2736G>C
1g.151406154C>TCA341947889POGZc.2929G>A (p.Gly977Ser)
c.2722G>A (p.Gly908Ser)
c.2881G>A (p.Gly961Ser)
c.2902G>A (p.Gly968Ser)
n.3029G>A
c.2596G>A (p.Gly866Ser)
c.2854G>A (p.Gly952Ser)
c.2749G>A (p.Gly917Ser)
c.2695G>A (p.Gly899Ser)
c.2773G>A (p.Gly925Ser)
c.2524G>A (p.Gly842Ser)
c.2755G>A (p.Gly919Ser)
c.1681G>A (p.Gly561Ser)
n.2736G>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406155A>CCA420910001POGZc.2928T>G (p.Gly976=)
c.2721T>G (p.Gly907=)
c.2880T>G (p.Gly960=)
c.2901T>G (p.Gly967=)
n.3028T>G
c.2595T>G (p.Gly865=)
c.2853T>G (p.Gly951=)
c.2748T>G (p.Gly916=)
c.2694T>G (p.Gly898=)
c.2772T>G (p.Gly924=)
c.2523T>G (p.Gly841=)
c.2754T>G (p.Gly918=)
c.1680T>G (p.Gly560=)
n.2735T>G
1g.151406155A>GCA420910002POGZc.2928T>C (p.Gly976=)
c.2721T>C (p.Gly907=)
c.2880T>C (p.Gly960=)
c.2901T>C (p.Gly967=)
n.3028T>C
c.2595T>C (p.Gly865=)
c.2853T>C (p.Gly951=)
c.2748T>C (p.Gly916=)
c.2694T>C (p.Gly898=)
c.2772T>C (p.Gly924=)
c.2523T>C (p.Gly841=)
c.2754T>C (p.Gly918=)
c.1680T>C (p.Gly560=)
n.2735T>C
1g.151406155A>TCA420910003POGZc.2928T>A (p.Gly976=)
c.2721T>A (p.Gly907=)
c.2880T>A (p.Gly960=)
c.2901T>A (p.Gly967=)
n.3028T>A
c.2595T>A (p.Gly865=)
c.2853T>A (p.Gly951=)
c.2748T>A (p.Gly916=)
c.2694T>A (p.Gly898=)
c.2772T>A (p.Gly924=)
c.2523T>A (p.Gly841=)
c.2754T>A (p.Gly918=)
c.1680T>A (p.Gly560=)
n.2735T>A
1g.151406156C>ACA341947890POGZc.2927G>T (p.Gly976Val)
c.2720G>T (p.Gly907Val)
c.2879G>T (p.Gly960Val)
c.2900G>T (p.Gly967Val)
n.3027G>T
c.2594G>T (p.Gly865Val)
c.2852G>T (p.Gly951Val)
c.2747G>T (p.Gly916Val)
c.2693G>T (p.Gly898Val)
c.2771G>T (p.Gly924Val)
c.2522G>T (p.Gly841Val)
c.2753G>T (p.Gly918Val)
c.1679G>T (p.Gly560Val)
n.2734G>T
1g.151406156C=CA2479570532POGZc.2927G= (p.Gly976=)
c.2720G= (p.Gly907=)
c.2879G= (p.Gly960=)
c.2900G= (p.Gly967=)
n.3027G=
c.2594G= (p.Gly865=)
c.2852G= (p.Gly951=)
c.2747G= (p.Gly916=)
c.2693G= (p.Gly898=)
c.2771G= (p.Gly924=)
c.2522G= (p.Gly841=)
c.2753G= (p.Gly918=)
c.1679G= (p.Gly560=)
n.2734G=
1g.151406156C>GCA341947891POGZc.2927G>C (p.Gly976Ala)
c.2720G>C (p.Gly907Ala)
c.2879G>C (p.Gly960Ala)
c.2900G>C (p.Gly967Ala)
n.3027G>C
c.2594G>C (p.Gly865Ala)
c.2852G>C (p.Gly951Ala)
c.2747G>C (p.Gly916Ala)
c.2693G>C (p.Gly898Ala)
c.2771G>C (p.Gly924Ala)
c.2522G>C (p.Gly841Ala)
c.2753G>C (p.Gly918Ala)
c.1679G>C (p.Gly560Ala)
n.2734G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406156C>TCA341947892POGZc.2927G>A (p.Gly976Asp)
c.2720G>A (p.Gly907Asp)
c.2879G>A (p.Gly960Asp)
c.2900G>A (p.Gly967Asp)
n.3027G>A
c.2594G>A (p.Gly865Asp)
c.2852G>A (p.Gly951Asp)
c.2747G>A (p.Gly916Asp)
c.2693G>A (p.Gly898Asp)
c.2771G>A (p.Gly924Asp)
c.2522G>A (p.Gly841Asp)
c.2753G>A (p.Gly918Asp)
c.1679G>A (p.Gly560Asp)
n.2734G>A
 gnomAD v4
1g.151406157C>ACA341947895POGZc.2926G>T (p.Gly976Cys)
c.2719G>T (p.Gly907Cys)
c.2878G>T (p.Gly960Cys)
c.2899G>T (p.Gly967Cys)
n.3026G>T
c.2593G>T (p.Gly865Cys)
c.2851G>T (p.Gly951Cys)
c.2746G>T (p.Gly916Cys)
c.2692G>T (p.Gly898Cys)
c.2770G>T (p.Gly924Cys)
c.2521G>T (p.Gly841Cys)
c.2752G>T (p.Gly918Cys)
c.1678G>T (p.Gly560Cys)
n.2733G>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406157C=CA2479570533POGZc.2926G= (p.Gly976=)
c.2719G= (p.Gly907=)
c.2878G= (p.Gly960=)
c.2899G= (p.Gly967=)
n.3026G=
c.2593G= (p.Gly865=)
c.2851G= (p.Gly951=)
c.2746G= (p.Gly916=)
c.2692G= (p.Gly898=)
c.2770G= (p.Gly924=)
c.2521G= (p.Gly841=)
c.2752G= (p.Gly918=)
c.1678G= (p.Gly560=)
n.2733G=
1g.151406157C>GCA341947898POGZc.2926G>C (p.Gly976Arg)
c.2719G>C (p.Gly907Arg)
c.2878G>C (p.Gly960Arg)
c.2899G>C (p.Gly967Arg)
n.3026G>C
c.2593G>C (p.Gly865Arg)
c.2851G>C (p.Gly951Arg)
c.2746G>C (p.Gly916Arg)
c.2692G>C (p.Gly898Arg)
c.2770G>C (p.Gly924Arg)
c.2521G>C (p.Gly841Arg)
c.2752G>C (p.Gly918Arg)
c.1678G>C (p.Gly560Arg)
n.2733G>C
1g.151406157C>TCA341947905POGZc.2926G>A (p.Gly976Ser)
c.2719G>A (p.Gly907Ser)
c.2878G>A (p.Gly960Ser)
c.2899G>A (p.Gly967Ser)
n.3026G>A
c.2593G>A (p.Gly865Ser)
c.2851G>A (p.Gly951Ser)
c.2746G>A (p.Gly916Ser)
c.2692G>A (p.Gly898Ser)
c.2770G>A (p.Gly924Ser)
c.2521G>A (p.Gly841Ser)
c.2752G>A (p.Gly918Ser)
c.1678G>A (p.Gly560Ser)
n.2733G>A
1g.151406158T>ACA420910007POGZc.2925A>T (p.Ser975=)
c.2718A>T (p.Ser906=)
c.2877A>T (p.Ser959=)
c.2898A>T (p.Ser966=)
n.3025A>T
c.2592A>T (p.Ser864=)
c.2850A>T (p.Ser950=)
c.2745A>T (p.Ser915=)
c.2691A>T (p.Ser897=)
c.2769A>T (p.Ser923=)
c.2520A>T (p.Ser840=)
c.2751A>T (p.Ser917=)
c.1677A>T (p.Ser559=)
n.2732A>T
1g.151406158T>CCA420910008POGZc.2925A>G (p.Ser975=)
c.2718A>G (p.Ser906=)
c.2877A>G (p.Ser959=)
c.2898A>G (p.Ser966=)
n.3025A>G
c.2592A>G (p.Ser864=)
c.2850A>G (p.Ser950=)
c.2745A>G (p.Ser915=)
c.2691A>G (p.Ser897=)
c.2769A>G (p.Ser923=)
c.2520A>G (p.Ser840=)
c.2751A>G (p.Ser917=)
c.1677A>G (p.Ser559=)
n.2732A>G
 gnomAD v4
1g.151406158T>GCA420910009POGZc.2925A>C (p.Ser975=)
c.2718A>C (p.Ser906=)
c.2877A>C (p.Ser959=)
c.2898A>C (p.Ser966=)
n.3025A>C
c.2592A>C (p.Ser864=)
c.2850A>C (p.Ser950=)
c.2745A>C (p.Ser915=)
c.2691A>C (p.Ser897=)
c.2769A>C (p.Ser923=)
c.2520A>C (p.Ser840=)
c.2751A>C (p.Ser917=)
c.1677A>C (p.Ser559=)
n.2732A>C
1g.151406159G>ACA341947909POGZc.2924C>T (p.Ser975Leu)
c.2717C>T (p.Ser906Leu)
c.2876C>T (p.Ser959Leu)
c.2897C>T (p.Ser966Leu)
n.3024C>T
c.2591C>T (p.Ser864Leu)
c.2849C>T (p.Ser950Leu)
c.2744C>T (p.Ser915Leu)
c.2690C>T (p.Ser897Leu)
c.2768C>T (p.Ser923Leu)
c.2519C>T (p.Ser840Leu)
c.2750C>T (p.Ser917Leu)
c.1676C>T (p.Ser559Leu)
n.2731C>T
 dbSNP gnomAD v4
1g.151406159G>CCA341947914POGZc.2924C>G (p.Ser975Ter)
c.2717C>G (p.Ser906Ter)
c.2876C>G (p.Ser959Ter)
c.2897C>G (p.Ser966Ter)
n.3024C>G
c.2591C>G (p.Ser864Ter)
c.2849C>G (p.Ser950Ter)
c.2744C>G (p.Ser915Ter)
c.2690C>G (p.Ser897Ter)
c.2768C>G (p.Ser923Ter)
c.2519C>G (p.Ser840Ter)
c.2750C>G (p.Ser917Ter)
c.1676C>G (p.Ser559Ter)
n.2731C>G
1g.151406159G=CA2479570534POGZc.2924C= (p.Ser975=)
c.2717C= (p.Ser906=)
c.2876C= (p.Ser959=)
c.2897C= (p.Ser966=)
n.3024C=
c.2591C= (p.Ser864=)
c.2849C= (p.Ser950=)
c.2744C= (p.Ser915=)
c.2690C= (p.Ser897=)
c.2768C= (p.Ser923=)
c.2519C= (p.Ser840=)
c.2750C= (p.Ser917=)
c.1676C= (p.Ser559=)
n.2731C=
1g.151406159G>TCA341947917POGZc.2924C>A (p.Ser975Ter)
c.2717C>A (p.Ser906Ter)
c.2876C>A (p.Ser959Ter)
c.2897C>A (p.Ser966Ter)
n.3024C>A
c.2591C>A (p.Ser864Ter)
c.2849C>A (p.Ser950Ter)
c.2744C>A (p.Ser915Ter)
c.2690C>A (p.Ser897Ter)
c.2768C>A (p.Ser923Ter)
c.2519C>A (p.Ser840Ter)
c.2750C>A (p.Ser917Ter)
c.1676C>A (p.Ser559Ter)
n.2731C>A
1g.151406160A>CCA341947932POGZc.2923T>G (p.Ser975Ala)
c.2716T>G (p.Ser906Ala)
c.2875T>G (p.Ser959Ala)
c.2896T>G (p.Ser966Ala)
n.3023T>G
c.2590T>G (p.Ser864Ala)
c.2848T>G (p.Ser950Ala)
c.2743T>G (p.Ser915Ala)
c.2689T>G (p.Ser897Ala)
c.2767T>G (p.Ser923Ala)
c.2518T>G (p.Ser840Ala)
c.2749T>G (p.Ser917Ala)
c.1675T>G (p.Ser559Ala)
n.2730T>G
1g.151406160A>GCA341947928POGZc.2923T>C (p.Ser975Pro)
c.2716T>C (p.Ser906Pro)
c.2875T>C (p.Ser959Pro)
c.2896T>C (p.Ser966Pro)
n.3023T>C
c.2590T>C (p.Ser864Pro)
c.2848T>C (p.Ser950Pro)
c.2743T>C (p.Ser915Pro)
c.2689T>C (p.Ser897Pro)
c.2767T>C (p.Ser923Pro)
c.2518T>C (p.Ser840Pro)
c.2749T>C (p.Ser917Pro)
c.1675T>C (p.Ser559Pro)
n.2730T>C
1g.151406160A>TCA341947924POGZc.2923T>A (p.Ser975Thr)
c.2716T>A (p.Ser906Thr)
c.2875T>A (p.Ser959Thr)
c.2896T>A (p.Ser966Thr)
n.3023T>A
c.2590T>A (p.Ser864Thr)
c.2848T>A (p.Ser950Thr)
c.2743T>A (p.Ser915Thr)
c.2689T>A (p.Ser897Thr)
c.2767T>A (p.Ser923Thr)
c.2518T>A (p.Ser840Thr)
c.2749T>A (p.Ser917Thr)
c.1675T>A (p.Ser559Thr)
n.2730T>A
1g.151406161delCA2574056015POGZc.2922del (p.Ser975GlnfsTer17)
c.2715del (p.Ser906GlnfsTer17)
c.2874del (p.Ser959GlnfsTer17)
c.2895del (p.Ser966GlnfsTer17)
n.3022del
c.2589del (p.Ser864GlnfsTer17)
c.2847del (p.Ser950GlnfsTer17)
c.2742del (p.Ser915GlnfsTer17)
c.2688del (p.Ser897GlnfsTer17)
c.2766del (p.Ser923GlnfsTer17)
c.2517del (p.Ser840GlnfsTer17)
c.2748del (p.Ser917GlnfsTer17)
c.1674del (p.Ser559GlnfsTer17)
n.2729del
1g.151406161T>ACA420910014POGZc.2922A>T (p.Ala974=)
c.2715A>T (p.Ala905=)
c.2874A>T (p.Ala958=)
c.2895A>T (p.Ala965=)
n.3022A>T
c.2589A>T (p.Ala863=)
c.2847A>T (p.Ala949=)
c.2742A>T (p.Ala914=)
c.2688A>T (p.Ala896=)
c.2766A>T (p.Ala922=)
c.2517A>T (p.Ala839=)
c.2748A>T (p.Ala916=)
c.1674A>T (p.Ala558=)
n.2729A>T
1g.151406161T>CCA420910013POGZc.2922A>G (p.Ala974=)
c.2715A>G (p.Ala905=)
c.2874A>G (p.Ala958=)
c.2895A>G (p.Ala965=)
n.3022A>G
c.2589A>G (p.Ala863=)
c.2847A>G (p.Ala949=)
c.2742A>G (p.Ala914=)
c.2688A>G (p.Ala896=)
c.2766A>G (p.Ala922=)
c.2517A>G (p.Ala839=)
c.2748A>G (p.Ala916=)
c.1674A>G (p.Ala558=)
n.2729A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406161T>GCA420910012POGZc.2922A>C (p.Ala974=)
c.2715A>C (p.Ala905=)
c.2874A>C (p.Ala958=)
c.2895A>C (p.Ala965=)
n.3022A>C
c.2589A>C (p.Ala863=)
c.2847A>C (p.Ala949=)
c.2742A>C (p.Ala914=)
c.2688A>C (p.Ala896=)
c.2766A>C (p.Ala922=)
c.2517A>C (p.Ala839=)
c.2748A>C (p.Ala916=)
c.1674A>C (p.Ala558=)
n.2729A>C
1g.151406161T=CA2479570535POGZc.2922A= (p.Ala974=)
c.2715A= (p.Ala905=)
c.2874A= (p.Ala958=)
c.2895A= (p.Ala965=)
n.3022A=
c.2589A= (p.Ala863=)
c.2847A= (p.Ala949=)
c.2742A= (p.Ala914=)
c.2688A= (p.Ala896=)
c.2766A= (p.Ala922=)
c.2517A= (p.Ala839=)
c.2748A= (p.Ala916=)
c.1674A= (p.Ala558=)
n.2729A=
1g.151406161_151406162delCA2586964170POGZc.2921_2922del (p.Ala974ValfsTer6)
c.2714_2715del (p.Ala905ValfsTer6)
c.2873_2874del (p.Ala958ValfsTer6)
c.2894_2895del (p.Ala965ValfsTer6)
n.3021_3022del
c.2588_2589del (p.Ala863ValfsTer6)
c.2846_2847del (p.Ala949ValfsTer6)
c.2741_2742del (p.Ala914ValfsTer6)
c.2687_2688del (p.Ala896ValfsTer6)
c.2765_2766del (p.Ala922ValfsTer6)
c.2516_2517del (p.Ala839ValfsTer6)
c.2747_2748del (p.Ala916ValfsTer6)
c.1673_1674del (p.Ala558ValfsTer6)
n.2728_2729del
1g.151406162G>ACA1091042POGZc.2921C>T (p.Ala974Val)
c.2714C>T (p.Ala905Val)
c.2873C>T (p.Ala958Val)
c.2894C>T (p.Ala965Val)
n.3021C>T
c.2588C>T (p.Ala863Val)
c.2846C>T (p.Ala949Val)
c.2741C>T (p.Ala914Val)
c.2687C>T (p.Ala896Val)
c.2765C>T (p.Ala922Val)
c.2516C>T (p.Ala839Val)
c.2747C>T (p.Ala916Val)
c.1673C>T (p.Ala558Val)
n.2728C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406162G>CCA341947940POGZc.2921C>G (p.Ala974Gly)
c.2714C>G (p.Ala905Gly)
c.2873C>G (p.Ala958Gly)
c.2894C>G (p.Ala965Gly)
n.3021C>G
c.2588C>G (p.Ala863Gly)
c.2846C>G (p.Ala949Gly)
c.2741C>G (p.Ala914Gly)
c.2687C>G (p.Ala896Gly)
c.2765C>G (p.Ala922Gly)
c.2516C>G (p.Ala839Gly)
c.2747C>G (p.Ala916Gly)
c.1673C>G (p.Ala558Gly)
n.2728C>G
1g.151406162G=CA2479570536POGZc.2921C= (p.Ala974=)
c.2714C= (p.Ala905=)
c.2873C= (p.Ala958=)
c.2894C= (p.Ala965=)
n.3021C=
c.2588C= (p.Ala863=)
c.2846C= (p.Ala949=)
c.2741C= (p.Ala914=)
c.2687C= (p.Ala896=)
c.2765C= (p.Ala922=)
c.2516C= (p.Ala839=)
c.2747C= (p.Ala916=)
c.1673C= (p.Ala558=)
n.2728C=
1g.151406162G>TCA341947961POGZc.2921C>A (p.Ala974Glu)
c.2714C>A (p.Ala905Glu)
c.2873C>A (p.Ala958Glu)
c.2894C>A (p.Ala965Glu)
n.3021C>A
c.2588C>A (p.Ala863Glu)
c.2846C>A (p.Ala949Glu)
c.2741C>A (p.Ala914Glu)
c.2687C>A (p.Ala896Glu)
c.2765C>A (p.Ala922Glu)
c.2516C>A (p.Ala839Glu)
c.2747C>A (p.Ala916Glu)
c.1673C>A (p.Ala558Glu)
n.2728C>A
1g.151406163C>ACA341947969POGZc.2920G>T (p.Ala974Ser)
c.2713G>T (p.Ala905Ser)
c.2872G>T (p.Ala958Ser)
c.2893G>T (p.Ala965Ser)
n.3020G>T
c.2587G>T (p.Ala863Ser)
c.2845G>T (p.Ala949Ser)
c.2740G>T (p.Ala914Ser)
c.2686G>T (p.Ala896Ser)
c.2764G>T (p.Ala922Ser)
c.2515G>T (p.Ala839Ser)
c.2746G>T (p.Ala916Ser)
c.1672G>T (p.Ala558Ser)
n.2727G>T
1g.151406163C=CA1148465950POGZc.2920G= (p.Ala974=)
c.2713G= (p.Ala905=)
c.2872G= (p.Ala958=)
c.2893G= (p.Ala965=)
n.3020G=
c.2587G= (p.Ala863=)
c.2845G= (p.Ala949=)
c.2740G= (p.Ala914=)
c.2686G= (p.Ala896=)
c.2764G= (p.Ala922=)
c.2515G= (p.Ala839=)
c.2746G= (p.Ala916=)
c.1672G= (p.Ala558=)
n.2727G=
1g.151406163C>GCA341947985POGZc.2920G>C (p.Ala974Pro)
c.2713G>C (p.Ala905Pro)
c.2872G>C (p.Ala958Pro)
c.2893G>C (p.Ala965Pro)
n.3020G>C
c.2587G>C (p.Ala863Pro)
c.2845G>C (p.Ala949Pro)
c.2740G>C (p.Ala914Pro)
c.2686G>C (p.Ala896Pro)
c.2764G>C (p.Ala922Pro)
c.2515G>C (p.Ala839Pro)
c.2746G>C (p.Ala916Pro)
c.1672G>C (p.Ala558Pro)
n.2727G>C
1g.151406163C>TCA1091043POGZc.2920G>A (p.Ala974Thr)
c.2713G>A (p.Ala905Thr)
c.2872G>A (p.Ala958Thr)
c.2893G>A (p.Ala965Thr)
n.3020G>A
c.2587G>A (p.Ala863Thr)
c.2845G>A (p.Ala949Thr)
c.2740G>A (p.Ala914Thr)
c.2686G>A (p.Ala896Thr)
c.2764G>A (p.Ala922Thr)
c.2515G>A (p.Ala839Thr)
c.2746G>A (p.Ala916Thr)
c.1672G>A (p.Ala558Thr)
n.2727G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406164T>ACA420910015POGZc.2919A>T (p.Leu973=)
c.2712A>T (p.Leu904=)
c.2871A>T (p.Leu957=)
c.2892A>T (p.Leu964=)
n.3019A>T
c.2586A>T (p.Leu862=)
c.2844A>T (p.Leu948=)
c.2739A>T (p.Leu913=)
c.2685A>T (p.Leu895=)
c.2763A>T (p.Leu921=)
c.2514A>T (p.Leu838=)
c.2745A>T (p.Leu915=)
c.1671A>T (p.Leu557=)
n.2726A>T
1g.151406164T>CCA420910016POGZc.2919A>G (p.Leu973=)
c.2712A>G (p.Leu904=)
c.2871A>G (p.Leu957=)
c.2892A>G (p.Leu964=)
n.3019A>G
c.2586A>G (p.Leu862=)
c.2844A>G (p.Leu948=)
c.2739A>G (p.Leu913=)
c.2685A>G (p.Leu895=)
c.2763A>G (p.Leu921=)
c.2514A>G (p.Leu838=)
c.2745A>G (p.Leu915=)
c.1671A>G (p.Leu557=)
n.2726A>G
1g.151406164T>GCA420910017POGZc.2919A>C (p.Leu973=)
c.2712A>C (p.Leu904=)
c.2871A>C (p.Leu957=)
c.2892A>C (p.Leu964=)
n.3019A>C
c.2586A>C (p.Leu862=)
c.2844A>C (p.Leu948=)
c.2739A>C (p.Leu913=)
c.2685A>C (p.Leu895=)
c.2763A>C (p.Leu921=)
c.2514A>C (p.Leu838=)
c.2745A>C (p.Leu915=)
c.1671A>C (p.Leu557=)
n.2726A>C
1g.151406165A>CCA341947991POGZc.2918T>G (p.Leu973Arg)
c.2711T>G (p.Leu904Arg)
c.2870T>G (p.Leu957Arg)
c.2891T>G (p.Leu964Arg)
n.3018T>G
c.2585T>G (p.Leu862Arg)
c.2843T>G (p.Leu948Arg)
c.2738T>G (p.Leu913Arg)
c.2684T>G (p.Leu895Arg)
c.2762T>G (p.Leu921Arg)
c.2513T>G (p.Leu838Arg)
c.2744T>G (p.Leu915Arg)
c.1670T>G (p.Leu557Arg)
n.2725T>G
1g.151406165A>GCA341947994POGZc.2918T>C (p.Leu973Pro)
c.2711T>C (p.Leu904Pro)
c.2870T>C (p.Leu957Pro)
c.2891T>C (p.Leu964Pro)
n.3018T>C
c.2585T>C (p.Leu862Pro)
c.2843T>C (p.Leu948Pro)
c.2738T>C (p.Leu913Pro)
c.2684T>C (p.Leu895Pro)
c.2762T>C (p.Leu921Pro)
c.2513T>C (p.Leu838Pro)
c.2744T>C (p.Leu915Pro)
c.1670T>C (p.Leu557Pro)
n.2725T>C
 gnomAD v4
1g.151406165A>TCA341947999POGZc.2918T>A (p.Leu973Gln)
c.2711T>A (p.Leu904Gln)
c.2870T>A (p.Leu957Gln)
c.2891T>A (p.Leu964Gln)
n.3018T>A
c.2585T>A (p.Leu862Gln)
c.2843T>A (p.Leu948Gln)
c.2738T>A (p.Leu913Gln)
c.2684T>A (p.Leu895Gln)
c.2762T>A (p.Leu921Gln)
c.2513T>A (p.Leu838Gln)
c.2744T>A (p.Leu915Gln)
c.1670T>A (p.Leu557Gln)
n.2725T>A
1g.151406166G>ACA420910018POGZc.2917C>T (p.Leu973=)
c.2710C>T (p.Leu904=)
c.2869C>T (p.Leu957=)
c.2890C>T (p.Leu964=)
n.3017C>T
c.2584C>T (p.Leu862=)
c.2842C>T (p.Leu948=)
c.2737C>T (p.Leu913=)
c.2683C>T (p.Leu895=)
c.2761C>T (p.Leu921=)
c.2512C>T (p.Leu838=)
c.2743C>T (p.Leu915=)
c.1669C>T (p.Leu557=)
n.2724C>T
1g.151406166G>CCA341948009POGZc.2917C>G (p.Leu973Val)
c.2710C>G (p.Leu904Val)
c.2869C>G (p.Leu957Val)
c.2890C>G (p.Leu964Val)
n.3017C>G
c.2584C>G (p.Leu862Val)
c.2842C>G (p.Leu948Val)
c.2737C>G (p.Leu913Val)
c.2683C>G (p.Leu895Val)
c.2761C>G (p.Leu921Val)
c.2512C>G (p.Leu838Val)
c.2743C>G (p.Leu915Val)
c.1669C>G (p.Leu557Val)
n.2724C>G
 gnomAD v4
1g.151406166G>TCA341948014POGZc.2917C>A (p.Leu973Ile)
c.2710C>A (p.Leu904Ile)
c.2869C>A (p.Leu957Ile)
c.2890C>A (p.Leu964Ile)
n.3017C>A
c.2584C>A (p.Leu862Ile)
c.2842C>A (p.Leu948Ile)
c.2737C>A (p.Leu913Ile)
c.2683C>A (p.Leu895Ile)
c.2761C>A (p.Leu921Ile)
c.2512C>A (p.Leu838Ile)
c.2743C>A (p.Leu915Ile)
c.1669C>A (p.Leu557Ile)
n.2724C>A
1g.151406167C>ACA341948018POGZc.2916G>T (p.Glu972Asp)
c.2709G>T (p.Glu903Asp)
c.2868G>T (p.Glu956Asp)
c.2889G>T (p.Glu963Asp)
n.3016G>T
c.2583G>T (p.Glu861Asp)
c.2841G>T (p.Glu947Asp)
c.2736G>T (p.Glu912Asp)
c.2682G>T (p.Glu894Asp)
c.2760G>T (p.Glu920Asp)
c.2511G>T (p.Glu837Asp)
c.2742G>T (p.Glu914Asp)
c.1668G>T (p.Glu556Asp)
n.2723G>T
1g.151406167C=CA2479570537POGZc.2916G= (p.Glu972=)
c.2709G= (p.Glu903=)
c.2868G= (p.Glu956=)
c.2889G= (p.Glu963=)
n.3016G=
c.2583G= (p.Glu861=)
c.2841G= (p.Glu947=)
c.2736G= (p.Glu912=)
c.2682G= (p.Glu894=)
c.2760G= (p.Glu920=)
c.2511G= (p.Glu837=)
c.2742G= (p.Glu914=)
c.1668G= (p.Glu556=)
n.2723G=
1g.151406167C>GCA341948019POGZc.2916G>C (p.Glu972Asp)
c.2709G>C (p.Glu903Asp)
c.2868G>C (p.Glu956Asp)
c.2889G>C (p.Glu963Asp)
n.3016G>C
c.2583G>C (p.Glu861Asp)
c.2841G>C (p.Glu947Asp)
c.2736G>C (p.Glu912Asp)
c.2682G>C (p.Glu894Asp)
c.2760G>C (p.Glu920Asp)
c.2511G>C (p.Glu837Asp)
c.2742G>C (p.Glu914Asp)
c.1668G>C (p.Glu556Asp)
n.2723G>C
 gnomAD v4
1g.151406167C>TCA1091044POGZc.2916G>A (p.Glu972=)
c.2709G>A (p.Glu903=)
c.2868G>A (p.Glu956=)
c.2889G>A (p.Glu963=)
n.3016G>A
c.2583G>A (p.Glu861=)
c.2841G>A (p.Glu947=)
c.2736G>A (p.Glu912=)
c.2682G>A (p.Glu894=)
c.2760G>A (p.Glu920=)
c.2511G>A (p.Glu837=)
c.2742G>A (p.Glu914=)
c.1668G>A (p.Glu556=)
n.2723G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406167_151406168insACA2574056016POGZc.2915_2916insT (p.Glu972AspfsTer9)
c.2708_2709insT (p.Glu903AspfsTer9)
c.2867_2868insT (p.Glu956AspfsTer9)
c.2888_2889insT (p.Glu963AspfsTer9)
n.3015_3016insT
c.2582_2583insT (p.Glu861AspfsTer9)
c.2840_2841insT (p.Glu947AspfsTer9)
c.2735_2736insT (p.Glu912AspfsTer9)
c.2681_2682insT (p.Glu894AspfsTer9)
c.2759_2760insT (p.Glu920AspfsTer9)
c.2510_2511insT (p.Glu837AspfsTer9)
c.2741_2742insT (p.Glu914AspfsTer9)
c.1667_1668insT (p.Glu556AspfsTer9)
n.2722_2723insT
1g.151406168T>ACA341948028POGZc.2915A>T (p.Glu972Val)
c.2708A>T (p.Glu903Val)
c.2867A>T (p.Glu956Val)
c.2888A>T (p.Glu963Val)
n.3015A>T
c.2582A>T (p.Glu861Val)
c.2840A>T (p.Glu947Val)
c.2735A>T (p.Glu912Val)
c.2681A>T (p.Glu894Val)
c.2759A>T (p.Glu920Val)
c.2510A>T (p.Glu837Val)
c.2741A>T (p.Glu914Val)
c.1667A>T (p.Glu556Val)
n.2722A>T
1g.151406168T>CCA341948032POGZc.2915A>G (p.Glu972Gly)
c.2708A>G (p.Glu903Gly)
c.2867A>G (p.Glu956Gly)
c.2888A>G (p.Glu963Gly)
n.3015A>G
c.2582A>G (p.Glu861Gly)
c.2840A>G (p.Glu947Gly)
c.2735A>G (p.Glu912Gly)
c.2681A>G (p.Glu894Gly)
c.2759A>G (p.Glu920Gly)
c.2510A>G (p.Glu837Gly)
c.2741A>G (p.Glu914Gly)
c.1667A>G (p.Glu556Gly)
n.2722A>G
1g.151406168T>GCA29569261POGZc.2915A>C (p.Glu972Ala)
c.2708A>C (p.Glu903Ala)
c.2867A>C (p.Glu956Ala)
c.2888A>C (p.Glu963Ala)
n.3015A>C
c.2582A>C (p.Glu861Ala)
c.2840A>C (p.Glu947Ala)
c.2735A>C (p.Glu912Ala)
c.2681A>C (p.Glu894Ala)
c.2759A>C (p.Glu920Ala)
c.2510A>C (p.Glu837Ala)
c.2741A>C (p.Glu914Ala)
c.1667A>C (p.Glu556Ala)
n.2722A>C
 dbSNP
1g.151406168T=CA1146712103POGZc.2915A= (p.Glu972=)
c.2708A= (p.Glu903=)
c.2867A= (p.Glu956=)
c.2888A= (p.Glu963=)
n.3015A=
c.2582A= (p.Glu861=)
c.2840A= (p.Glu947=)
c.2735A= (p.Glu912=)
c.2681A= (p.Glu894=)
c.2759A= (p.Glu920=)
c.2510A= (p.Glu837=)
c.2741A= (p.Glu914=)
c.1667A= (p.Glu556=)
n.2722A=
1g.151406169C>ACA341948048POGZc.2914G>T (p.Glu972Ter)
c.2707G>T (p.Glu903Ter)
c.2866G>T (p.Glu956Ter)
c.2887G>T (p.Glu963Ter)
n.3014G>T
c.2581G>T (p.Glu861Ter)
c.2839G>T (p.Glu947Ter)
c.2734G>T (p.Glu912Ter)
c.2680G>T (p.Glu894Ter)
c.2758G>T (p.Glu920Ter)
c.2509G>T (p.Glu837Ter)
c.2740G>T (p.Glu914Ter)
c.1666G>T (p.Glu556Ter)
n.2721G>T
1g.151406169C>GCA341948045POGZc.2914G>C (p.Glu972Gln)
c.2707G>C (p.Glu903Gln)
c.2866G>C (p.Glu956Gln)
c.2887G>C (p.Glu963Gln)
n.3014G>C
c.2581G>C (p.Glu861Gln)
c.2839G>C (p.Glu947Gln)
c.2734G>C (p.Glu912Gln)
c.2680G>C (p.Glu894Gln)
c.2758G>C (p.Glu920Gln)
c.2509G>C (p.Glu837Gln)
c.2740G>C (p.Glu914Gln)
c.1666G>C (p.Glu556Gln)
n.2721G>C
1g.151406169C>TCA341948041POGZc.2914G>A (p.Glu972Lys)
c.2707G>A (p.Glu903Lys)
c.2866G>A (p.Glu956Lys)
c.2887G>A (p.Glu963Lys)
n.3014G>A
c.2581G>A (p.Glu861Lys)
c.2839G>A (p.Glu947Lys)
c.2734G>A (p.Glu912Lys)
c.2680G>A (p.Glu894Lys)
c.2758G>A (p.Glu920Lys)
c.2509G>A (p.Glu837Lys)
c.2740G>A (p.Glu914Lys)
c.1666G>A (p.Glu556Lys)
n.2721G>A
1g.151406170A>CCA420910022POGZc.2913T>G (p.Pro971=)
c.2706T>G (p.Pro902=)
c.2865T>G (p.Pro955=)
c.2886T>G (p.Pro962=)
n.3013T>G
c.2580T>G (p.Pro860=)
c.2838T>G (p.Pro946=)
c.2733T>G (p.Pro911=)
c.2679T>G (p.Pro893=)
c.2757T>G (p.Pro919=)
c.2508T>G (p.Pro836=)
c.2739T>G (p.Pro913=)
c.1665T>G (p.Pro555=)
n.2720T>G
 ClinVar gnomAD v4
1g.151406170A>GCA420910023POGZc.2913T>C (p.Pro971=)
c.2706T>C (p.Pro902=)
c.2865T>C (p.Pro955=)
c.2886T>C (p.Pro962=)
n.3013T>C
c.2580T>C (p.Pro860=)
c.2838T>C (p.Pro946=)
c.2733T>C (p.Pro911=)
c.2679T>C (p.Pro893=)
c.2757T>C (p.Pro919=)
c.2508T>C (p.Pro836=)
c.2739T>C (p.Pro913=)
c.1665T>C (p.Pro555=)
n.2720T>C
1g.151406170A>TCA420910024POGZc.2913T>A (p.Pro971=)
c.2706T>A (p.Pro902=)
c.2865T>A (p.Pro955=)
c.2886T>A (p.Pro962=)
n.3013T>A
c.2580T>A (p.Pro860=)
c.2838T>A (p.Pro946=)
c.2733T>A (p.Pro911=)
c.2679T>A (p.Pro893=)
c.2757T>A (p.Pro919=)
c.2508T>A (p.Pro836=)
c.2739T>A (p.Pro913=)
c.1665T>A (p.Pro555=)
n.2720T>A
1g.151406171G>ACA341948053POGZc.2912C>T (p.Pro971Leu)
c.2705C>T (p.Pro902Leu)
c.2864C>T (p.Pro955Leu)
c.2885C>T (p.Pro962Leu)
n.3012C>T
c.2579C>T (p.Pro860Leu)
c.2837C>T (p.Pro946Leu)
c.2732C>T (p.Pro911Leu)
c.2678C>T (p.Pro893Leu)
c.2756C>T (p.Pro919Leu)
c.2507C>T (p.Pro836Leu)
c.2738C>T (p.Pro913Leu)
c.1664C>T (p.Pro555Leu)
n.2719C>T
 gnomAD v4
1g.151406171G>CCA1091045POGZc.2912C>G (p.Pro971Arg)
c.2705C>G (p.Pro902Arg)
c.2864C>G (p.Pro955Arg)
c.2885C>G (p.Pro962Arg)
n.3012C>G
c.2579C>G (p.Pro860Arg)
c.2837C>G (p.Pro946Arg)
c.2732C>G (p.Pro911Arg)
c.2678C>G (p.Pro893Arg)
c.2756C>G (p.Pro919Arg)
c.2507C>G (p.Pro836Arg)
c.2738C>G (p.Pro913Arg)
c.1664C>G (p.Pro555Arg)
n.2719C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406171G=CA2479570538POGZc.2912C= (p.Pro971=)
c.2705C= (p.Pro902=)
c.2864C= (p.Pro955=)
c.2885C= (p.Pro962=)
n.3012C=
c.2579C= (p.Pro860=)
c.2837C= (p.Pro946=)
c.2732C= (p.Pro911=)
c.2678C= (p.Pro893=)
c.2756C= (p.Pro919=)
c.2507C= (p.Pro836=)
c.2738C= (p.Pro913=)
c.1664C= (p.Pro555=)
n.2719C=
1g.151406171G>TCA341948058POGZc.2912C>A (p.Pro971His)
c.2705C>A (p.Pro902His)
c.2864C>A (p.Pro955His)
c.2885C>A (p.Pro962His)
n.3012C>A
c.2579C>A (p.Pro860His)
c.2837C>A (p.Pro946His)
c.2732C>A (p.Pro911His)
c.2678C>A (p.Pro893His)
c.2756C>A (p.Pro919His)
c.2507C>A (p.Pro836His)
c.2738C>A (p.Pro913His)
c.1664C>A (p.Pro555His)
n.2719C>A
1g.151406172G>ACA341948066POGZc.2911C>T (p.Pro971Ser)
c.2704C>T (p.Pro902Ser)
c.2863C>T (p.Pro955Ser)
c.2884C>T (p.Pro962Ser)
n.3011C>T
c.2578C>T (p.Pro860Ser)
c.2836C>T (p.Pro946Ser)
c.2731C>T (p.Pro911Ser)
c.2677C>T (p.Pro893Ser)
c.2755C>T (p.Pro919Ser)
c.2506C>T (p.Pro836Ser)
c.2737C>T (p.Pro913Ser)
c.1663C>T (p.Pro555Ser)
n.2718C>T
1g.151406172G>CCA341948067POGZc.2911C>G (p.Pro971Ala)
c.2704C>G (p.Pro902Ala)
c.2863C>G (p.Pro955Ala)
c.2884C>G (p.Pro962Ala)
n.3011C>G
c.2578C>G (p.Pro860Ala)
c.2836C>G (p.Pro946Ala)
c.2731C>G (p.Pro911Ala)
c.2677C>G (p.Pro893Ala)
c.2755C>G (p.Pro919Ala)
c.2506C>G (p.Pro836Ala)
c.2737C>G (p.Pro913Ala)
c.1663C>G (p.Pro555Ala)
n.2718C>G
1g.151406172G>TCA341948077POGZc.2911C>A (p.Pro971Thr)
c.2704C>A (p.Pro902Thr)
c.2863C>A (p.Pro955Thr)
c.2884C>A (p.Pro962Thr)
n.3011C>A
c.2578C>A (p.Pro860Thr)
c.2836C>A (p.Pro946Thr)
c.2731C>A (p.Pro911Thr)
c.2677C>A (p.Pro893Thr)
c.2755C>A (p.Pro919Thr)
c.2506C>A (p.Pro836Thr)
c.2737C>A (p.Pro913Thr)
c.1663C>A (p.Pro555Thr)
n.2718C>A
1g.151406173T>ACA341948087POGZc.2910A>T (p.Glu970Asp)
c.2703A>T (p.Glu901Asp)
c.2862A>T (p.Glu954Asp)
c.2883A>T (p.Glu961Asp)
n.3010A>T
c.2577A>T (p.Glu859Asp)
c.2835A>T (p.Glu945Asp)
c.2730A>T (p.Glu910Asp)
c.2676A>T (p.Glu892Asp)
c.2754A>T (p.Glu918Asp)
c.2505A>T (p.Glu835Asp)
c.2736A>T (p.Glu912Asp)
c.1662A>T (p.Glu554Asp)
n.2717A>T
1g.151406173T>CCA420910026POGZc.2910A>G (p.Glu970=)
c.2703A>G (p.Glu901=)
c.2862A>G (p.Glu954=)
c.2883A>G (p.Glu961=)
n.3010A>G
c.2577A>G (p.Glu859=)
c.2835A>G (p.Glu945=)
c.2730A>G (p.Glu910=)
c.2676A>G (p.Glu892=)
c.2754A>G (p.Glu918=)
c.2505A>G (p.Glu835=)
c.2736A>G (p.Glu912=)
c.1662A>G (p.Glu554=)
n.2717A>G
1g.151406173T>GCA1091046POGZc.2910A>C (p.Glu970Asp)
c.2703A>C (p.Glu901Asp)
c.2862A>C (p.Glu954Asp)
c.2883A>C (p.Glu961Asp)
n.3010A>C
c.2577A>C (p.Glu859Asp)
c.2835A>C (p.Glu945Asp)
c.2730A>C (p.Glu910Asp)
c.2676A>C (p.Glu892Asp)
c.2754A>C (p.Glu918Asp)
c.2505A>C (p.Glu835Asp)
c.2736A>C (p.Glu912Asp)
c.1662A>C (p.Glu554Asp)
n.2717A>C
 dbSNP ExAC gnomAD v2
1g.151406173T=CA2479570539POGZc.2910A= (p.Glu970=)
c.2703A= (p.Glu901=)
c.2862A= (p.Glu954=)
c.2883A= (p.Glu961=)
n.3010A=
c.2577A= (p.Glu859=)
c.2835A= (p.Glu945=)
c.2730A= (p.Glu910=)
c.2676A= (p.Glu892=)
c.2754A= (p.Glu918=)
c.2505A= (p.Glu835=)
c.2736A= (p.Glu912=)
c.1662A= (p.Glu554=)
n.2717A=
1g.151406174T>ACA341948095POGZc.2909A>T (p.Glu970Val)
c.2702A>T (p.Glu901Val)
c.2861A>T (p.Glu954Val)
c.2882A>T (p.Glu961Val)
n.3009A>T
c.2576A>T (p.Glu859Val)
c.2834A>T (p.Glu945Val)
c.2729A>T (p.Glu910Val)
c.2675A>T (p.Glu892Val)
c.2753A>T (p.Glu918Val)
c.2504A>T (p.Glu835Val)
c.2735A>T (p.Glu912Val)
c.1661A>T (p.Glu554Val)
n.2716A>T
1g.151406174T>CCA1091047POGZc.2909A>G (p.Glu970Gly)
c.2702A>G (p.Glu901Gly)
c.2861A>G (p.Glu954Gly)
c.2882A>G (p.Glu961Gly)
n.3009A>G
c.2576A>G (p.Glu859Gly)
c.2834A>G (p.Glu945Gly)
c.2729A>G (p.Glu910Gly)
c.2675A>G (p.Glu892Gly)
c.2753A>G (p.Glu918Gly)
c.2504A>G (p.Glu835Gly)
c.2735A>G (p.Glu912Gly)
c.1661A>G (p.Glu554Gly)
n.2716A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406174T>GCA341948107POGZc.2909A>C (p.Glu970Ala)
c.2702A>C (p.Glu901Ala)
c.2861A>C (p.Glu954Ala)
c.2882A>C (p.Glu961Ala)
n.3009A>C
c.2576A>C (p.Glu859Ala)
c.2834A>C (p.Glu945Ala)
c.2729A>C (p.Glu910Ala)
c.2675A>C (p.Glu892Ala)
c.2753A>C (p.Glu918Ala)
c.2504A>C (p.Glu835Ala)
c.2735A>C (p.Glu912Ala)
c.1661A>C (p.Glu554Ala)
n.2716A>C
1g.151406174T=CA2479570540POGZc.2909A= (p.Glu970=)
c.2702A= (p.Glu901=)
c.2861A= (p.Glu954=)
c.2882A= (p.Glu961=)
n.3009A=
c.2576A= (p.Glu859=)
c.2834A= (p.Glu945=)
c.2729A= (p.Glu910=)
c.2675A= (p.Glu892=)
c.2753A= (p.Glu918=)
c.2504A= (p.Glu835=)
c.2735A= (p.Glu912=)
c.1661A= (p.Glu554=)
n.2716A=
1g.151406175C>ACA341948130POGZc.2908G>T (p.Glu970Ter)
c.2701G>T (p.Glu901Ter)
c.2860G>T (p.Glu954Ter)
c.2881G>T (p.Glu961Ter)
n.3008G>T
c.2575G>T (p.Glu859Ter)
c.2833G>T (p.Glu945Ter)
c.2728G>T (p.Glu910Ter)
c.2674G>T (p.Glu892Ter)
c.2752G>T (p.Glu918Ter)
c.2503G>T (p.Glu835Ter)
c.2734G>T (p.Glu912Ter)
c.1660G>T (p.Glu554Ter)
n.2715G>T
1g.151406175C>GCA341948127POGZc.2908G>C (p.Glu970Gln)
c.2701G>C (p.Glu901Gln)
c.2860G>C (p.Glu954Gln)
c.2881G>C (p.Glu961Gln)
n.3008G>C
c.2575G>C (p.Glu859Gln)
c.2833G>C (p.Glu945Gln)
c.2728G>C (p.Glu910Gln)
c.2674G>C (p.Glu892Gln)
c.2752G>C (p.Glu918Gln)
c.2503G>C (p.Glu835Gln)
c.2734G>C (p.Glu912Gln)
c.1660G>C (p.Glu554Gln)
n.2715G>C
1g.151406175C>TCA341948113POGZc.2908G>A (p.Glu970Lys)
c.2701G>A (p.Glu901Lys)
c.2860G>A (p.Glu954Lys)
c.2881G>A (p.Glu961Lys)
n.3008G>A
c.2575G>A (p.Glu859Lys)
c.2833G>A (p.Glu945Lys)
c.2728G>A (p.Glu910Lys)
c.2674G>A (p.Glu892Lys)
c.2752G>A (p.Glu918Lys)
c.2503G>A (p.Glu835Lys)
c.2734G>A (p.Glu912Lys)
c.1660G>A (p.Glu554Lys)
n.2715G>A
1g.151406176T>ACA341948134POGZc.2907A>T (p.Gln969His)
c.2700A>T (p.Gln900His)
c.2859A>T (p.Gln953His)
c.2880A>T (p.Gln960His)
n.3007A>T
c.2574A>T (p.Gln858His)
c.2832A>T (p.Gln944His)
c.2727A>T (p.Gln909His)
c.2673A>T (p.Gln891His)
c.2751A>T (p.Gln917His)
c.2502A>T (p.Gln834His)
c.2733A>T (p.Gln911His)
c.1659A>T (p.Gln553His)
n.2714A>T
1g.151406176T>CCA1091048POGZc.2907A>G (p.Gln969=)
c.2700A>G (p.Gln900=)
c.2859A>G (p.Gln953=)
c.2880A>G (p.Gln960=)
n.3007A>G
c.2574A>G (p.Gln858=)
c.2832A>G (p.Gln944=)
c.2727A>G (p.Gln909=)
c.2673A>G (p.Gln891=)
c.2751A>G (p.Gln917=)
c.2502A>G (p.Gln834=)
c.2733A>G (p.Gln911=)
c.1659A>G (p.Gln553=)
n.2714A>G
 dbSNP ExAC
1g.151406176T>GCA341948141POGZc.2907A>C (p.Gln969His)
c.2700A>C (p.Gln900His)
c.2859A>C (p.Gln953His)
c.2880A>C (p.Gln960His)
n.3007A>C
c.2574A>C (p.Gln858His)
c.2832A>C (p.Gln944His)
c.2727A>C (p.Gln909His)
c.2673A>C (p.Gln891His)
c.2751A>C (p.Gln917His)
c.2502A>C (p.Gln834His)
c.2733A>C (p.Gln911His)
c.1659A>C (p.Gln553His)
n.2714A>C
1g.151406176T=CA2479570541POGZc.2907A= (p.Gln969=)
c.2700A= (p.Gln900=)
c.2859A= (p.Gln953=)
c.2880A= (p.Gln960=)
n.3007A=
c.2574A= (p.Gln858=)
c.2832A= (p.Gln944=)
c.2727A= (p.Gln909=)
c.2673A= (p.Gln891=)
c.2751A= (p.Gln917=)
c.2502A= (p.Gln834=)
c.2733A= (p.Gln911=)
c.1659A= (p.Gln553=)
n.2714A=
1g.151406177T>ACA341948147POGZc.2906A>T (p.Gln969Leu)
c.2699A>T (p.Gln900Leu)
c.2858A>T (p.Gln953Leu)
c.2879A>T (p.Gln960Leu)
n.3006A>T
c.2573A>T (p.Gln858Leu)
c.2831A>T (p.Gln944Leu)
c.2726A>T (p.Gln909Leu)
c.2672A>T (p.Gln891Leu)
c.2750A>T (p.Gln917Leu)
c.2501A>T (p.Gln834Leu)
c.2732A>T (p.Gln911Leu)
c.1658A>T (p.Gln553Leu)
n.2713A>T
1g.151406177T>CCA341948152POGZc.2906A>G (p.Gln969Arg)
c.2699A>G (p.Gln900Arg)
c.2858A>G (p.Gln953Arg)
c.2879A>G (p.Gln960Arg)
n.3006A>G
c.2573A>G (p.Gln858Arg)
c.2831A>G (p.Gln944Arg)
c.2726A>G (p.Gln909Arg)
c.2672A>G (p.Gln891Arg)
c.2750A>G (p.Gln917Arg)
c.2501A>G (p.Gln834Arg)
c.2732A>G (p.Gln911Arg)
c.1658A>G (p.Gln553Arg)
n.2713A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406177T>GCA341948155POGZc.2906A>C (p.Gln969Pro)
c.2699A>C (p.Gln900Pro)
c.2858A>C (p.Gln953Pro)
c.2879A>C (p.Gln960Pro)
n.3006A>C
c.2573A>C (p.Gln858Pro)
c.2831A>C (p.Gln944Pro)
c.2726A>C (p.Gln909Pro)
c.2672A>C (p.Gln891Pro)
c.2750A>C (p.Gln917Pro)
c.2501A>C (p.Gln834Pro)
c.2732A>C (p.Gln911Pro)
c.1658A>C (p.Gln553Pro)
n.2713A>C
1g.151406177T=CA2479570542POGZc.2906A= (p.Gln969=)
c.2699A= (p.Gln900=)
c.2858A= (p.Gln953=)
c.2879A= (p.Gln960=)
n.3006A=
c.2573A= (p.Gln858=)
c.2831A= (p.Gln944=)
c.2726A= (p.Gln909=)
c.2672A= (p.Gln891=)
c.2750A= (p.Gln917=)
c.2501A= (p.Gln834=)
c.2732A= (p.Gln911=)
c.1658A= (p.Gln553=)
n.2713A=
1g.151406178G>ACA341948162POGZc.2905C>T (p.Gln969Ter)
c.2698C>T (p.Gln900Ter)
c.2857C>T (p.Gln953Ter)
c.2878C>T (p.Gln960Ter)
n.3005C>T
c.2572C>T (p.Gln858Ter)
c.2830C>T (p.Gln944Ter)
c.2725C>T (p.Gln909Ter)
c.2671C>T (p.Gln891Ter)
c.2749C>T (p.Gln917Ter)
c.2500C>T (p.Gln834Ter)
c.2731C>T (p.Gln911Ter)
c.1657C>T (p.Gln553Ter)
n.2712C>T
1g.151406178G>CCA341948167POGZc.2905C>G (p.Gln969Glu)
c.2698C>G (p.Gln900Glu)
c.2857C>G (p.Gln953Glu)
c.2878C>G (p.Gln960Glu)
n.3005C>G
c.2572C>G (p.Gln858Glu)
c.2830C>G (p.Gln944Glu)
c.2725C>G (p.Gln909Glu)
c.2671C>G (p.Gln891Glu)
c.2749C>G (p.Gln917Glu)
c.2500C>G (p.Gln834Glu)
c.2731C>G (p.Gln911Glu)
c.1657C>G (p.Gln553Glu)
n.2712C>G
1g.151406178G=CA2479570543POGZc.2905C= (p.Gln969=)
c.2698C= (p.Gln900=)
c.2857C= (p.Gln953=)
c.2878C= (p.Gln960=)
n.3005C=
c.2572C= (p.Gln858=)
c.2830C= (p.Gln944=)
c.2725C= (p.Gln909=)
c.2671C= (p.Gln891=)
c.2749C= (p.Gln917=)
c.2500C= (p.Gln834=)
c.2731C= (p.Gln911=)
c.1657C= (p.Gln553=)
n.2712C=
1g.151406178G>TCA341948174POGZc.2905C>A (p.Gln969Lys)
c.2698C>A (p.Gln900Lys)
c.2857C>A (p.Gln953Lys)
c.2878C>A (p.Gln960Lys)
n.3005C>A
c.2572C>A (p.Gln858Lys)
c.2830C>A (p.Gln944Lys)
c.2725C>A (p.Gln909Lys)
c.2671C>A (p.Gln891Lys)
c.2749C>A (p.Gln917Lys)
c.2500C>A (p.Gln834Lys)
c.2731C>A (p.Gln911Lys)
c.1657C>A (p.Gln553Lys)
n.2712C>A
1g.151406179G>ACA420910034POGZc.2904C>T (p.Thr968=)
c.2697C>T (p.Thr899=)
c.2856C>T (p.Thr952=)
c.2877C>T (p.Thr959=)
n.3004C>T
c.2571C>T (p.Thr857=)
c.2829C>T (p.Thr943=)
c.2724C>T (p.Thr908=)
c.2670C>T (p.Thr890=)
c.2748C>T (p.Thr916=)
c.2499C>T (p.Thr833=)
c.2730C>T (p.Thr910=)
c.1656C>T (p.Thr552=)
n.2711C>T
 dbSNP gnomAD v4
1g.151406179G>CCA420910036POGZc.2904C>G (p.Thr968=)
c.2697C>G (p.Thr899=)
c.2856C>G (p.Thr952=)
c.2877C>G (p.Thr959=)
n.3004C>G
c.2571C>G (p.Thr857=)
c.2829C>G (p.Thr943=)
c.2724C>G (p.Thr908=)
c.2670C>G (p.Thr890=)
c.2748C>G (p.Thr916=)
c.2499C>G (p.Thr833=)
c.2730C>G (p.Thr910=)
c.1656C>G (p.Thr552=)
n.2711C>G
 gnomAD v4
1g.151406179G=CA2479570544POGZc.2904C= (p.Thr968=)
c.2697C= (p.Thr899=)
c.2856C= (p.Thr952=)
c.2877C= (p.Thr959=)
n.3004C=
c.2571C= (p.Thr857=)
c.2829C= (p.Thr943=)
c.2724C= (p.Thr908=)
c.2670C= (p.Thr890=)
c.2748C= (p.Thr916=)
c.2499C= (p.Thr833=)
c.2730C= (p.Thr910=)
c.1656C= (p.Thr552=)
n.2711C=
1g.151406179G>TCA420910038POGZc.2904C>A (p.Thr968=)
c.2697C>A (p.Thr899=)
c.2856C>A (p.Thr952=)
c.2877C>A (p.Thr959=)
n.3004C>A
c.2571C>A (p.Thr857=)
c.2829C>A (p.Thr943=)
c.2724C>A (p.Thr908=)
c.2670C>A (p.Thr890=)
c.2748C>A (p.Thr916=)
c.2499C>A (p.Thr833=)
c.2730C>A (p.Thr910=)
c.1656C>A (p.Thr552=)
n.2711C>A
1g.151406179_151406184dupCA526660632POGZc.2899_2904dup (p.Thr968_Gln969insValThr)
c.2692_2697dup (p.Thr899_Gln900insValThr)
c.2851_2856dup (p.Thr952_Gln953insValThr)
c.2872_2877dup (p.Thr959_Gln960insValThr)
n.2999_3004dup
c.2566_2571dup (p.Thr857_Gln858insValThr)
c.2824_2829dup (p.Thr943_Gln944insValThr)
c.2719_2724dup (p.Thr908_Gln909insValThr)
c.2665_2670dup (p.Thr890_Gln891insValThr)
c.2743_2748dup (p.Thr916_Gln917insValThr)
c.2494_2499dup (p.Thr833_Gln834insValThr)
c.2725_2730dup (p.Thr910_Gln911insValThr)
c.1651_1656dup (p.Thr552_Gln553insValThr)
n.2706_2711dup
 dbSNP gnomAD v2 gnomAD v4
1g.151406180G>ACA341948179POGZc.2903C>T (p.Thr968Ile)
c.2696C>T (p.Thr899Ile)
c.2855C>T (p.Thr952Ile)
c.2876C>T (p.Thr959Ile)
n.3003C>T
c.2570C>T (p.Thr857Ile)
c.2828C>T (p.Thr943Ile)
c.2723C>T (p.Thr908Ile)
c.2669C>T (p.Thr890Ile)
c.2747C>T (p.Thr916Ile)
c.2498C>T (p.Thr833Ile)
c.2729C>T (p.Thr910Ile)
c.1655C>T (p.Thr552Ile)
n.2710C>T
 dbSNP gnomAD v4
1g.151406180G>CCA341948182POGZc.2903C>G (p.Thr968Ser)
c.2696C>G (p.Thr899Ser)
c.2855C>G (p.Thr952Ser)
c.2876C>G (p.Thr959Ser)
n.3003C>G
c.2570C>G (p.Thr857Ser)
c.2828C>G (p.Thr943Ser)
c.2723C>G (p.Thr908Ser)
c.2669C>G (p.Thr890Ser)
c.2747C>G (p.Thr916Ser)
c.2498C>G (p.Thr833Ser)
c.2729C>G (p.Thr910Ser)
c.1655C>G (p.Thr552Ser)
n.2710C>G
1g.151406180G>TCA341948184POGZc.2903C>A (p.Thr968Asn)
c.2696C>A (p.Thr899Asn)
c.2855C>A (p.Thr952Asn)
c.2876C>A (p.Thr959Asn)
n.3003C>A
c.2570C>A (p.Thr857Asn)
c.2828C>A (p.Thr943Asn)
c.2723C>A (p.Thr908Asn)
c.2669C>A (p.Thr890Asn)
c.2747C>A (p.Thr916Asn)
c.2498C>A (p.Thr833Asn)
c.2729C>A (p.Thr910Asn)
c.1655C>A (p.Thr552Asn)
n.2710C>A
1g.151406181T>ACA341948200POGZc.2902A>T (p.Thr968Ser)
c.2695A>T (p.Thr899Ser)
c.2854A>T (p.Thr952Ser)
c.2875A>T (p.Thr959Ser)
n.3002A>T
c.2569A>T (p.Thr857Ser)
c.2827A>T (p.Thr943Ser)
c.2722A>T (p.Thr908Ser)
c.2668A>T (p.Thr890Ser)
c.2746A>T (p.Thr916Ser)
c.2497A>T (p.Thr833Ser)
c.2728A>T (p.Thr910Ser)
c.1654A>T (p.Thr552Ser)
n.2709A>T
1g.151406181T>CCA1091049POGZc.2902A>G (p.Thr968Ala)
c.2695A>G (p.Thr899Ala)
c.2854A>G (p.Thr952Ala)
c.2875A>G (p.Thr959Ala)
n.3002A>G
c.2569A>G (p.Thr857Ala)
c.2827A>G (p.Thr943Ala)
c.2722A>G (p.Thr908Ala)
c.2668A>G (p.Thr890Ala)
c.2746A>G (p.Thr916Ala)
c.2497A>G (p.Thr833Ala)
c.2728A>G (p.Thr910Ala)
c.1654A>G (p.Thr552Ala)
n.2709A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406181T>GCA341948193POGZc.2902A>C (p.Thr968Pro)
c.2695A>C (p.Thr899Pro)
c.2854A>C (p.Thr952Pro)
c.2875A>C (p.Thr959Pro)
n.3002A>C
c.2569A>C (p.Thr857Pro)
c.2827A>C (p.Thr943Pro)
c.2722A>C (p.Thr908Pro)
c.2668A>C (p.Thr890Pro)
c.2746A>C (p.Thr916Pro)
c.2497A>C (p.Thr833Pro)
c.2728A>C (p.Thr910Pro)
c.1654A>C (p.Thr552Pro)
n.2709A>C
1g.151406181T=CA2479570545POGZc.2902A= (p.Thr968=)
c.2695A= (p.Thr899=)
c.2854A= (p.Thr952=)
c.2875A= (p.Thr959=)
n.3002A=
c.2569A= (p.Thr857=)
c.2827A= (p.Thr943=)
c.2722A= (p.Thr908=)
c.2668A= (p.Thr890=)
c.2746A= (p.Thr916=)
c.2497A= (p.Thr833=)
c.2728A= (p.Thr910=)
c.1654A= (p.Thr552=)
n.2709A=
1g.151406182G>ACA1091050POGZc.2901C>T (p.Val967=)
c.2694C>T (p.Val898=)
c.2853C>T (p.Val951=)
c.2874C>T (p.Val958=)
n.3001C>T
c.2568C>T (p.Val856=)
c.2826C>T (p.Val942=)
c.2721C>T (p.Val907=)
c.2667C>T (p.Val889=)
c.2745C>T (p.Val915=)
c.2496C>T (p.Val832=)
c.2727C>T (p.Val909=)
c.1653C>T (p.Val551=)
n.2708C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406182G>CCA420910044POGZc.2901C>G (p.Val967=)
c.2694C>G (p.Val898=)
c.2853C>G (p.Val951=)
c.2874C>G (p.Val958=)
n.3001C>G
c.2568C>G (p.Val856=)
c.2826C>G (p.Val942=)
c.2721C>G (p.Val907=)
c.2667C>G (p.Val889=)
c.2745C>G (p.Val915=)
c.2496C>G (p.Val832=)
c.2727C>G (p.Val909=)
c.1653C>G (p.Val551=)
n.2708C>G
1g.151406182G=CA2479570546POGZc.2901C= (p.Val967=)
c.2694C= (p.Val898=)
c.2853C= (p.Val951=)
c.2874C= (p.Val958=)
n.3001C=
c.2568C= (p.Val856=)
c.2826C= (p.Val942=)
c.2721C= (p.Val907=)
c.2667C= (p.Val889=)
c.2745C= (p.Val915=)
c.2496C= (p.Val832=)
c.2727C= (p.Val909=)
c.1653C= (p.Val551=)
n.2708C=
1g.151406182G>TCA420910043POGZc.2901C>A (p.Val967=)
c.2694C>A (p.Val898=)
c.2853C>A (p.Val951=)
c.2874C>A (p.Val958=)
n.3001C>A
c.2568C>A (p.Val856=)
c.2826C>A (p.Val942=)
c.2721C>A (p.Val907=)
c.2667C>A (p.Val889=)
c.2745C>A (p.Val915=)
c.2496C>A (p.Val832=)
c.2727C>A (p.Val909=)
c.1653C>A (p.Val551=)
n.2708C>A

Number of alleles fetched