Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53243367G>ACA16043640IQSEC2c.3013C>T (p.Gln1005Ter)
c.806C>T
c.315C>T
c.144C>T
c.2854C>T (p.Gln952Ter)
n.605C>T
c.2824C>T (p.Gln942Ter)
c.2239C>T (p.Gln747Ter)
c.2950C>T (p.Gln984Ter)
c.2176C>T (p.Gln726Ter)
c.2143C>T (p.Gln715Ter)
n.3177C>T
c.2356C>T (p.Gln786Ter)
n.3171C>T
 ClinVar dbSNP
Xg.53243367G>CCA413153580IQSEC2c.3013C>G (p.Gln1005Glu)
c.806C>G
c.315C>G
c.144C>G
c.2854C>G (p.Gln952Glu)
n.605C>G
c.2824C>G (p.Gln942Glu)
c.2239C>G (p.Gln747Glu)
c.2950C>G (p.Gln984Glu)
c.2176C>G (p.Gln726Glu)
c.2143C>G (p.Gln715Glu)
n.3177C>G
c.2356C>G (p.Gln786Glu)
n.3171C>G
Xg.53243367G=CA2429773355IQSEC2c.3013C= (p.Gln1005=)
c.806C=
c.315C=
c.144C=
c.2854C= (p.Gln952=)
n.605C=
c.2824C= (p.Gln942=)
c.2239C= (p.Gln747=)
c.2950C= (p.Gln984=)
c.2176C= (p.Gln726=)
c.2143C= (p.Gln715=)
n.3177C=
c.2356C= (p.Gln786=)
n.3171C=
Xg.53243367G>TCA413153582IQSEC2c.3013C>A (p.Gln1005Lys)
c.806C>A
c.315C>A
c.144C>A
c.2854C>A (p.Gln952Lys)
n.605C>A
c.2824C>A (p.Gln942Lys)
c.2239C>A (p.Gln747Lys)
c.2950C>A (p.Gln984Lys)
c.2176C>A (p.Gln726Lys)
c.2143C>A (p.Gln715Lys)
n.3177C>A
c.2356C>A (p.Gln786Lys)
n.3171C>A
Xg.53243368C>ACA516426239IQSEC2c.3012G>T (p.Val1004=)
c.805G>T
c.314G>T
c.143G>T
c.2853G>T (p.Val951=)
n.604G>T
c.2823G>T (p.Val941=)
c.2238G>T (p.Val746=)
c.2949G>T (p.Val983=)
c.2175G>T (p.Val725=)
c.2142G>T (p.Val714=)
n.3176G>T
c.2355G>T (p.Val785=)
n.3170G>T
Xg.53243368C=CA2429773356IQSEC2c.3012G= (p.Val1004=)
c.805G=
c.314G=
c.143G=
c.2853G= (p.Val951=)
n.604G=
c.2823G= (p.Val941=)
c.2238G= (p.Val746=)
c.2949G= (p.Val983=)
c.2175G= (p.Val725=)
c.2142G= (p.Val714=)
n.3176G=
c.2355G= (p.Val785=)
n.3170G=
Xg.53243368C>GCA516426241IQSEC2c.3012G>C (p.Val1004=)
c.805G>C
c.314G>C
c.143G>C
c.2853G>C (p.Val951=)
n.604G>C
c.2823G>C (p.Val941=)
c.2238G>C (p.Val746=)
c.2949G>C (p.Val983=)
c.2175G>C (p.Val725=)
c.2142G>C (p.Val714=)
n.3176G>C
c.2355G>C (p.Val785=)
n.3170G>C
Xg.53243368C>TCA516426242IQSEC2c.3012G>A (p.Val1004=)
c.805G>A
c.314G>A
c.143G>A
c.2853G>A (p.Val951=)
n.604G>A
c.2823G>A (p.Val941=)
c.2238G>A (p.Val746=)
c.2949G>A (p.Val983=)
c.2175G>A (p.Val725=)
c.2142G>A (p.Val714=)
n.3176G>A
c.2355G>A (p.Val785=)
n.3170G>A
 ClinVar dbSNP
Xg.53243369A>CCA413153585IQSEC2c.3011T>G (p.Val1004Gly)
c.804T>G
c.313T>G
c.142T>G
c.2852T>G (p.Val951Gly)
n.603T>G
c.2822T>G (p.Val941Gly)
c.2237T>G (p.Val746Gly)
c.2948T>G (p.Val983Gly)
c.2174T>G (p.Val725Gly)
c.2141T>G (p.Val714Gly)
n.3175T>G
c.2354T>G (p.Val785Gly)
n.3169T>G
Xg.53243369A>GCA413153587IQSEC2c.3011T>C (p.Val1004Ala)
c.804T>C
c.313T>C
c.142T>C
c.2852T>C (p.Val951Ala)
n.603T>C
c.2822T>C (p.Val941Ala)
c.2237T>C (p.Val746Ala)
c.2948T>C (p.Val983Ala)
c.2174T>C (p.Val725Ala)
c.2141T>C (p.Val714Ala)
n.3175T>C
c.2354T>C (p.Val785Ala)
n.3169T>C
Xg.53243369A>TCA413153589IQSEC2c.3011T>A (p.Val1004Glu)
c.804T>A
c.313T>A
c.142T>A
c.2852T>A (p.Val951Glu)
n.603T>A
c.2822T>A (p.Val941Glu)
c.2237T>A (p.Val746Glu)
c.2948T>A (p.Val983Glu)
c.2174T>A (p.Val725Glu)
c.2141T>A (p.Val714Glu)
n.3175T>A
c.2354T>A (p.Val785Glu)
n.3169T>A
Xg.53243371_53243377delCA2695234294IQSEC2c.3005_3011del (p.Ser1002CysfsTer7)
c.798_804del
c.307_313del
c.136_142del
c.2846_2852del (p.Ser949CysfsTer7)
n.597_603del
c.2816_2822del (p.Ser939CysfsTer7)
c.2231_2237del (p.Ser744CysfsTer7)
c.2942_2948del (p.Ser981CysfsTer7)
c.2168_2174del (p.Ser723CysfsTer7)
c.2135_2141del (p.Ser712CysfsTer7)
n.3169_3175del
c.2348_2354del (p.Ser783CysfsTer7)
n.3163_3169del
Xg.53243370C>ACA413153593IQSEC2c.3010G>T (p.Val1004Leu)
c.803G>T
c.312G>T
c.141G>T
c.2851G>T (p.Val951Leu)
n.602G>T
c.2821G>T (p.Val941Leu)
c.2236G>T (p.Val746Leu)
c.2947G>T (p.Val983Leu)
c.2173G>T (p.Val725Leu)
c.2140G>T (p.Val714Leu)
n.3174G>T
c.2353G>T (p.Val785Leu)
n.3168G>T
Xg.53243370C>GCA413153596IQSEC2c.3010G>C (p.Val1004Leu)
c.803G>C
c.312G>C
c.141G>C
c.2851G>C (p.Val951Leu)
n.602G>C
c.2821G>C (p.Val941Leu)
c.2236G>C (p.Val746Leu)
c.2947G>C (p.Val983Leu)
c.2173G>C (p.Val725Leu)
c.2140G>C (p.Val714Leu)
n.3174G>C
c.2353G>C (p.Val785Leu)
n.3168G>C
Xg.53243370C>TCA413153599IQSEC2c.3010G>A (p.Val1004Met)
c.803G>A
c.312G>A
c.141G>A
c.2851G>A (p.Val951Met)
n.602G>A
c.2821G>A (p.Val941Met)
c.2236G>A (p.Val746Met)
c.2947G>A (p.Val983Met)
c.2173G>A (p.Val725Met)
c.2140G>A (p.Val714Met)
n.3174G>A
c.2353G>A (p.Val785Met)
n.3168G>A
Xg.53243371C>ACA413153606IQSEC2c.3009G>T (p.Gln1003His)
c.802G>T
c.311G>T
c.140G>T
c.2850G>T (p.Gln950His)
n.601G>T
c.2820G>T (p.Gln940His)
c.2235G>T (p.Gln745His)
c.2946G>T (p.Gln982His)
c.2172G>T (p.Gln724His)
c.2139G>T (p.Gln713His)
n.3173G>T
c.2352G>T (p.Gln784His)
n.3167G>T
Xg.53243371C>GCA413153604IQSEC2c.3009G>C (p.Gln1003His)
c.802G>C
c.311G>C
c.140G>C
c.2850G>C (p.Gln950His)
n.601G>C
c.2820G>C (p.Gln940His)
c.2235G>C (p.Gln745His)
c.2946G>C (p.Gln982His)
c.2172G>C (p.Gln724His)
c.2139G>C (p.Gln713His)
n.3173G>C
c.2352G>C (p.Gln784His)
n.3167G>C
Xg.53243371C>TCA516426252IQSEC2c.3009G>A (p.Gln1003=)
c.802G>A
c.311G>A
c.140G>A
c.2850G>A (p.Gln950=)
n.601G>A
c.2820G>A (p.Gln940=)
c.2235G>A (p.Gln745=)
c.2946G>A (p.Gln982=)
c.2172G>A (p.Gln724=)
c.2139G>A (p.Gln713=)
n.3173G>A
c.2352G>A (p.Gln784=)
n.3167G>A
Xg.53243372T>ACA413153611IQSEC2c.3008A>T (p.Gln1003Leu)
c.801A>T
c.310A>T
c.139A>T
c.2849A>T (p.Gln950Leu)
n.600A>T
c.2819A>T (p.Gln940Leu)
c.2234A>T (p.Gln745Leu)
c.2945A>T (p.Gln982Leu)
c.2171A>T (p.Gln724Leu)
c.2138A>T (p.Gln713Leu)
n.3172A>T
c.2351A>T (p.Gln784Leu)
n.3166A>T
Xg.53243372T>CCA413153614IQSEC2c.3008A>G (p.Gln1003Arg)
c.801A>G
c.310A>G
c.139A>G
c.2849A>G (p.Gln950Arg)
n.600A>G
c.2819A>G (p.Gln940Arg)
c.2234A>G (p.Gln745Arg)
c.2945A>G (p.Gln982Arg)
c.2171A>G (p.Gln724Arg)
c.2138A>G (p.Gln713Arg)
n.3172A>G
c.2351A>G (p.Gln784Arg)
n.3166A>G
Xg.53243372T>GCA413153616IQSEC2c.3008A>C (p.Gln1003Pro)
c.801A>C
c.310A>C
c.139A>C
c.2849A>C (p.Gln950Pro)
n.600A>C
c.2819A>C (p.Gln940Pro)
c.2234A>C (p.Gln745Pro)
c.2945A>C (p.Gln982Pro)
c.2171A>C (p.Gln724Pro)
c.2138A>C (p.Gln713Pro)
n.3172A>C
c.2351A>C (p.Gln784Pro)
n.3166A>C
Xg.53243373G>ACA413153620IQSEC2c.3007C>T (p.Gln1003Ter)
c.800C>T
c.309C>T
c.138C>T
c.2848C>T (p.Gln950Ter)
n.599C>T
c.2818C>T (p.Gln940Ter)
c.2233C>T (p.Gln745Ter)
c.2944C>T (p.Gln982Ter)
c.2170C>T (p.Gln724Ter)
c.2137C>T (p.Gln713Ter)
n.3171C>T
c.2350C>T (p.Gln784Ter)
n.3165C>T
 ClinVar
Xg.53243373G>CCA413153622IQSEC2c.3007C>G (p.Gln1003Glu)
c.800C>G
c.309C>G
c.138C>G
c.2848C>G (p.Gln950Glu)
n.599C>G
c.2818C>G (p.Gln940Glu)
c.2233C>G (p.Gln745Glu)
c.2944C>G (p.Gln982Glu)
c.2170C>G (p.Gln724Glu)
c.2137C>G (p.Gln713Glu)
n.3171C>G
c.2350C>G (p.Gln784Glu)
n.3165C>G
Xg.53243373G>TCA413153628IQSEC2c.3007C>A (p.Gln1003Lys)
c.800C>A
c.309C>A
c.138C>A
c.2848C>A (p.Gln950Lys)
n.599C>A
c.2818C>A (p.Gln940Lys)
c.2233C>A (p.Gln745Lys)
c.2944C>A (p.Gln982Lys)
c.2170C>A (p.Gln724Lys)
c.2137C>A (p.Gln713Lys)
n.3171C>A
c.2350C>A (p.Gln784Lys)
n.3165C>A
Xg.53243374G>ACA10419884IQSEC2c.3006C>T (p.Ser1002=)
c.799C>T
c.308C>T
c.137C>T
c.2847C>T (p.Ser949=)
n.598C>T
c.2817C>T (p.Ser939=)
c.2232C>T (p.Ser744=)
c.2943C>T (p.Ser981=)
c.2169C>T (p.Ser723=)
c.2136C>T (p.Ser712=)
n.3170C>T
c.2349C>T (p.Ser783=)
n.3164C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243374G>CCA516426257IQSEC2c.3006C>G (p.Ser1002=)
c.799C>G
c.308C>G
c.137C>G
c.2847C>G (p.Ser949=)
n.598C>G
c.2817C>G (p.Ser939=)
c.2232C>G (p.Ser744=)
c.2943C>G (p.Ser981=)
c.2169C>G (p.Ser723=)
c.2136C>G (p.Ser712=)
n.3170C>G
c.2349C>G (p.Ser783=)
n.3164C>G
Xg.53243374G=CA2429773357IQSEC2c.3006C= (p.Ser1002=)
c.799C=
c.308C=
c.137C=
c.2847C= (p.Ser949=)
n.598C=
c.2817C= (p.Ser939=)
c.2232C= (p.Ser744=)
c.2943C= (p.Ser981=)
c.2169C= (p.Ser723=)
c.2136C= (p.Ser712=)
n.3170C=
c.2349C= (p.Ser783=)
n.3164C=
Xg.53243374G>TCA516426258IQSEC2c.3006C>A (p.Ser1002=)
c.799C>A
c.308C>A
c.137C>A
c.2847C>A (p.Ser949=)
n.598C>A
c.2817C>A (p.Ser939=)
c.2232C>A (p.Ser744=)
c.2943C>A (p.Ser981=)
c.2169C>A (p.Ser723=)
c.2136C>A (p.Ser712=)
n.3170C>A
c.2349C>A (p.Ser783=)
n.3164C>A
Xg.53243375G>ACA413153640IQSEC2c.3005C>T (p.Ser1002Phe)
c.798C>T
c.307C>T
c.136C>T
c.2846C>T (p.Ser949Phe)
n.597C>T
c.2816C>T (p.Ser939Phe)
c.2231C>T (p.Ser744Phe)
c.2942C>T (p.Ser981Phe)
c.2168C>T (p.Ser723Phe)
c.2135C>T (p.Ser712Phe)
n.3169C>T
c.2348C>T (p.Ser783Phe)
n.3163C>T
 ClinVar dbSNP
Xg.53243375G>CCA413153633IQSEC2c.3005C>G (p.Ser1002Cys)
c.798C>G
c.307C>G
c.136C>G
c.2846C>G (p.Ser949Cys)
n.597C>G
c.2816C>G (p.Ser939Cys)
c.2231C>G (p.Ser744Cys)
c.2942C>G (p.Ser981Cys)
c.2168C>G (p.Ser723Cys)
c.2135C>G (p.Ser712Cys)
n.3169C>G
c.2348C>G (p.Ser783Cys)
n.3163C>G
Xg.53243375G=CA2429773358IQSEC2c.3005C= (p.Ser1002=)
c.798C=
c.307C=
c.136C=
c.2846C= (p.Ser949=)
n.597C=
c.2816C= (p.Ser939=)
c.2231C= (p.Ser744=)
c.2942C= (p.Ser981=)
c.2168C= (p.Ser723=)
c.2135C= (p.Ser712=)
n.3169C=
c.2348C= (p.Ser783=)
n.3163C=
Xg.53243375G>TCA413153638IQSEC2c.3005C>A (p.Ser1002Tyr)
c.798C>A
c.307C>A
c.136C>A
c.2846C>A (p.Ser949Tyr)
n.597C>A
c.2816C>A (p.Ser939Tyr)
c.2231C>A (p.Ser744Tyr)
c.2942C>A (p.Ser981Tyr)
c.2168C>A (p.Ser723Tyr)
c.2135C>A (p.Ser712Tyr)
n.3169C>A
c.2348C>A (p.Ser783Tyr)
n.3163C>A
Xg.53243376A>CCA413153644IQSEC2c.3004T>G (p.Ser1002Ala)
c.797T>G
c.306T>G
c.135T>G
c.2845T>G (p.Ser949Ala)
n.596T>G
c.2815T>G (p.Ser939Ala)
c.2230T>G (p.Ser744Ala)
c.2941T>G (p.Ser981Ala)
c.2167T>G (p.Ser723Ala)
c.2134T>G (p.Ser712Ala)
n.3168T>G
c.2347T>G (p.Ser783Ala)
n.3162T>G
Xg.53243376A>GCA413153648IQSEC2c.3004T>C (p.Ser1002Pro)
c.797T>C
c.306T>C
c.135T>C
c.2845T>C (p.Ser949Pro)
n.596T>C
c.2815T>C (p.Ser939Pro)
c.2230T>C (p.Ser744Pro)
c.2941T>C (p.Ser981Pro)
c.2167T>C (p.Ser723Pro)
c.2134T>C (p.Ser712Pro)
n.3168T>C
c.2347T>C (p.Ser783Pro)
n.3162T>C
Xg.53243376A>TCA413153655IQSEC2c.3004T>A (p.Ser1002Thr)
c.797T>A
c.306T>A
c.135T>A
c.2845T>A (p.Ser949Thr)
n.596T>A
c.2815T>A (p.Ser939Thr)
c.2230T>A (p.Ser744Thr)
c.2941T>A (p.Ser981Thr)
c.2167T>A (p.Ser723Thr)
c.2134T>A (p.Ser712Thr)
n.3168T>A
c.2347T>A (p.Ser783Thr)
n.3162T>A
Xg.53243377C>ACA516426272IQSEC2c.3003G>T (p.Val1001=)
c.796G>T
c.305G>T
c.134G>T
c.2844G>T (p.Val948=)
n.595G>T
c.2814G>T (p.Val938=)
c.2229G>T (p.Val743=)
c.2940G>T (p.Val980=)
c.2166G>T (p.Val722=)
c.2133G>T (p.Val711=)
n.3167G>T
c.2346G>T (p.Val782=)
n.3161G>T
 gnomAD v4
Xg.53243377C=CA2429773359IQSEC2c.3003G= (p.Val1001=)
c.796G=
c.305G=
c.134G=
c.2844G= (p.Val948=)
n.595G=
c.2814G= (p.Val938=)
c.2229G= (p.Val743=)
c.2940G= (p.Val980=)
c.2166G= (p.Val722=)
c.2133G= (p.Val711=)
n.3167G=
c.2346G= (p.Val782=)
n.3161G=
Xg.53243377C>GCA516426273IQSEC2c.3003G>C (p.Val1001=)
c.796G>C
c.305G>C
c.134G>C
c.2844G>C (p.Val948=)
n.595G>C
c.2814G>C (p.Val938=)
c.2229G>C (p.Val743=)
c.2940G>C (p.Val980=)
c.2166G>C (p.Val722=)
c.2133G>C (p.Val711=)
n.3167G>C
c.2346G>C (p.Val782=)
n.3161G>C
Xg.53243377C>TCA516426274IQSEC2c.3003G>A (p.Val1001=)
c.796G>A
c.305G>A
c.134G>A
c.2844G>A (p.Val948=)
n.595G>A
c.2814G>A (p.Val938=)
c.2229G>A (p.Val743=)
c.2940G>A (p.Val980=)
c.2166G>A (p.Val722=)
c.2133G>A (p.Val711=)
n.3167G>A
c.2346G>A (p.Val782=)
n.3161G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53243378A>CCA413153658IQSEC2c.3002T>G (p.Val1001Gly)
c.795T>G
c.304T>G
c.133T>G
c.2843T>G (p.Val948Gly)
n.594T>G
c.2813T>G (p.Val938Gly)
c.2228T>G (p.Val743Gly)
c.2939T>G (p.Val980Gly)
c.2165T>G (p.Val722Gly)
c.2132T>G (p.Val711Gly)
n.3166T>G
c.2345T>G (p.Val782Gly)
n.3160T>G
Xg.53243378A>GCA413153660IQSEC2c.3002T>C (p.Val1001Ala)
c.795T>C
c.304T>C
c.133T>C
c.2843T>C (p.Val948Ala)
n.594T>C
c.2813T>C (p.Val938Ala)
c.2228T>C (p.Val743Ala)
c.2939T>C (p.Val980Ala)
c.2165T>C (p.Val722Ala)
c.2132T>C (p.Val711Ala)
n.3166T>C
c.2345T>C (p.Val782Ala)
n.3160T>C
Xg.53243378A>TCA413153663IQSEC2c.3002T>A (p.Val1001Glu)
c.795T>A
c.304T>A
c.133T>A
c.2843T>A (p.Val948Glu)
n.594T>A
c.2813T>A (p.Val938Glu)
c.2228T>A (p.Val743Glu)
c.2939T>A (p.Val980Glu)
c.2165T>A (p.Val722Glu)
c.2132T>A (p.Val711Glu)
n.3166T>A
c.2345T>A (p.Val782Glu)
n.3160T>A
Xg.53243379C>ACA413153668IQSEC2c.3001G>T (p.Val1001Leu)
c.794G>T
c.303G>T
c.132G>T
c.2842G>T (p.Val948Leu)
n.593G>T
c.2812G>T (p.Val938Leu)
c.2227G>T (p.Val743Leu)
c.2938G>T (p.Val980Leu)
c.2164G>T (p.Val722Leu)
c.2131G>T (p.Val711Leu)
n.3165G>T
c.2344G>T (p.Val782Leu)
n.3159G>T
Xg.53243379C>GCA413153672IQSEC2c.3001G>C (p.Val1001Leu)
c.794G>C
c.303G>C
c.132G>C
c.2842G>C (p.Val948Leu)
n.593G>C
c.2812G>C (p.Val938Leu)
c.2227G>C (p.Val743Leu)
c.2938G>C (p.Val980Leu)
c.2164G>C (p.Val722Leu)
c.2131G>C (p.Val711Leu)
n.3165G>C
c.2344G>C (p.Val782Leu)
n.3159G>C
Xg.53243379C>TCA413153671IQSEC2c.3001G>A (p.Val1001Met)
c.794G>A
c.303G>A
c.132G>A
c.2842G>A (p.Val948Met)
n.593G>A
c.2812G>A (p.Val938Met)
c.2227G>A (p.Val743Met)
c.2938G>A (p.Val980Met)
c.2164G>A (p.Val722Met)
c.2131G>A (p.Val711Met)
n.3165G>A
c.2344G>A (p.Val782Met)
n.3159G>A
Xg.53243380A>CCA413153673IQSEC2c.3000T>G (p.His1000Gln)
c.793T>G
c.302T>G
c.131T>G
c.2841T>G (p.His947Gln)
n.592T>G
c.2811T>G (p.His937Gln)
c.2226T>G (p.His742Gln)
c.2937T>G (p.His979Gln)
c.2163T>G (p.His721Gln)
c.2130T>G (p.His710Gln)
n.3164T>G
c.2343T>G (p.His781Gln)
n.3158T>G
Xg.53243380A>GCA516426287IQSEC2c.3000T>C (p.His1000=)
c.793T>C
c.302T>C
c.131T>C
c.2841T>C (p.His947=)
n.592T>C
c.2811T>C (p.His937=)
c.2226T>C (p.His742=)
c.2937T>C (p.His979=)
c.2163T>C (p.His721=)
c.2130T>C (p.His710=)
n.3164T>C
c.2343T>C (p.His781=)
n.3158T>C
 gnomAD v4
Xg.53243380A>TCA413153674IQSEC2c.3000T>A (p.His1000Gln)
c.793T>A
c.302T>A
c.131T>A
c.2841T>A (p.His947Gln)
n.592T>A
c.2811T>A (p.His937Gln)
c.2226T>A (p.His742Gln)
c.2937T>A (p.His979Gln)
c.2163T>A (p.His721Gln)
c.2130T>A (p.His710Gln)
n.3164T>A
c.2343T>A (p.His781Gln)
n.3158T>A
Xg.53243381T>ACA413153676IQSEC2c.2999A>T (p.His1000Leu)
c.792A>T
c.301A>T
c.130A>T
c.2840A>T (p.His947Leu)
n.591A>T
c.2810A>T (p.His937Leu)
c.2225A>T (p.His742Leu)
c.2936A>T (p.His979Leu)
c.2162A>T (p.His721Leu)
c.2129A>T (p.His710Leu)
n.3163A>T
c.2342A>T (p.His781Leu)
n.3157A>T
Xg.53243381T>CCA413153679IQSEC2c.2999A>G (p.His1000Arg)
c.792A>G
c.301A>G
c.130A>G
c.2840A>G (p.His947Arg)
n.591A>G
c.2810A>G (p.His937Arg)
c.2225A>G (p.His742Arg)
c.2936A>G (p.His979Arg)
c.2162A>G (p.His721Arg)
c.2129A>G (p.His710Arg)
n.3163A>G
c.2342A>G (p.His781Arg)
n.3157A>G
Xg.53243381T>GCA413153682IQSEC2c.2999A>C (p.His1000Pro)
c.792A>C
c.301A>C
c.130A>C
c.2840A>C (p.His947Pro)
n.591A>C
c.2810A>C (p.His937Pro)
c.2225A>C (p.His742Pro)
c.2936A>C (p.His979Pro)
c.2162A>C (p.His721Pro)
c.2129A>C (p.His710Pro)
n.3163A>C
c.2342A>C (p.His781Pro)
n.3157A>C
Xg.53243381dupCA2573158980IQSEC2c.2999dup (p.His1000GlnfsTer?)
c.792dup
c.301dup
c.130dup
c.2840dup (p.His947GlnfsTer?)
n.591dup
c.2810dup (p.His937GlnfsTer?)
c.2225dup (p.His742GlnfsTer?)
c.2936dup (p.His979GlnfsTer?)
c.2162dup (p.His721GlnfsTer?)
c.2129dup (p.His710GlnfsTer?)
n.3163dup
c.2342dup (p.His781GlnfsTer?)
n.3157dup
 ClinVar dbSNP
Xg.53243382G>ACA413153696IQSEC2c.2998C>T (p.His1000Tyr)
c.791C>T
c.300C>T
c.129C>T
c.2839C>T (p.His947Tyr)
n.590C>T
c.2809C>T (p.His937Tyr)
c.2224C>T (p.His742Tyr)
c.2935C>T (p.His979Tyr)
c.2161C>T (p.His721Tyr)
c.2128C>T (p.His710Tyr)
n.3162C>T
c.2341C>T (p.His781Tyr)
n.3156C>T
 ClinVar gnomAD v4
Xg.53243382G>CCA413153699IQSEC2c.2998C>G (p.His1000Asp)
c.791C>G
c.300C>G
c.129C>G
c.2839C>G (p.His947Asp)
n.590C>G
c.2809C>G (p.His937Asp)
c.2224C>G (p.His742Asp)
c.2935C>G (p.His979Asp)
c.2161C>G (p.His721Asp)
c.2128C>G (p.His710Asp)
n.3162C>G
c.2341C>G (p.His781Asp)
n.3156C>G
Xg.53243382G>TCA413153700IQSEC2c.2998C>A (p.His1000Asn)
c.791C>A
c.300C>A
c.129C>A
c.2839C>A (p.His947Asn)
n.590C>A
c.2809C>A (p.His937Asn)
c.2224C>A (p.His742Asn)
c.2935C>A (p.His979Asn)
c.2161C>A (p.His721Asn)
c.2128C>A (p.His710Asn)
n.3162C>A
c.2341C>A (p.His781Asn)
n.3156C>A
Xg.53243383G>ACA516426302IQSEC2c.2997C>T (p.Asp999=)
c.790C>T
c.299C>T
c.128C>T
c.2838C>T (p.Asp946=)
n.589C>T
c.2808C>T (p.Asp936=)
c.2223C>T (p.Asp741=)
c.2934C>T (p.Asp978=)
c.2160C>T (p.Asp720=)
c.2127C>T (p.Asp709=)
n.3161C>T
c.2340C>T (p.Asp780=)
n.3155C>T
Xg.53243383G>CCA413153705IQSEC2c.2997C>G (p.Asp999Glu)
c.790C>G
c.299C>G
c.128C>G
c.2838C>G (p.Asp946Glu)
n.589C>G
c.2808C>G (p.Asp936Glu)
c.2223C>G (p.Asp741Glu)
c.2934C>G (p.Asp978Glu)
c.2160C>G (p.Asp720Glu)
c.2127C>G (p.Asp709Glu)
n.3161C>G
c.2340C>G (p.Asp780Glu)
n.3155C>G
Xg.53243383G>TCA413153708IQSEC2c.2997C>A (p.Asp999Glu)
c.790C>A
c.299C>A
c.128C>A
c.2838C>A (p.Asp946Glu)
n.589C>A
c.2808C>A (p.Asp936Glu)
c.2223C>A (p.Asp741Glu)
c.2934C>A (p.Asp978Glu)
c.2160C>A (p.Asp720Glu)
c.2127C>A (p.Asp709Glu)
n.3161C>A
c.2340C>A (p.Asp780Glu)
n.3155C>A
Xg.53243384T>ACA413153709IQSEC2c.2996A>T (p.Asp999Val)
c.789A>T
c.298A>T
c.127A>T
c.2837A>T (p.Asp946Val)
n.588A>T
c.2807A>T (p.Asp936Val)
c.2222A>T (p.Asp741Val)
c.2933A>T (p.Asp978Val)
c.2159A>T (p.Asp720Val)
c.2126A>T (p.Asp709Val)
n.3160A>T
c.2339A>T (p.Asp780Val)
n.3154A>T
Xg.53243384T>CCA413153710IQSEC2c.2996A>G (p.Asp999Gly)
c.789A>G
c.298A>G
c.127A>G
c.2837A>G (p.Asp946Gly)
n.588A>G
c.2807A>G (p.Asp936Gly)
c.2222A>G (p.Asp741Gly)
c.2933A>G (p.Asp978Gly)
c.2159A>G (p.Asp720Gly)
c.2126A>G (p.Asp709Gly)
n.3160A>G
c.2339A>G (p.Asp780Gly)
n.3154A>G
Xg.53243384T>GCA413153712IQSEC2c.2996A>C (p.Asp999Ala)
c.789A>C
c.298A>C
c.127A>C
c.2837A>C (p.Asp946Ala)
n.588A>C
c.2807A>C (p.Asp936Ala)
c.2222A>C (p.Asp741Ala)
c.2933A>C (p.Asp978Ala)
c.2159A>C (p.Asp720Ala)
c.2126A>C (p.Asp709Ala)
n.3160A>C
c.2339A>C (p.Asp780Ala)
n.3154A>C
Xg.53243385C>ACA413153714IQSEC2c.2995G>T (p.Asp999Tyr)
c.788G>T
c.297G>T
c.126G>T
c.2836G>T (p.Asp946Tyr)
n.587G>T
c.2806G>T (p.Asp936Tyr)
c.2221G>T (p.Asp741Tyr)
c.2932G>T (p.Asp978Tyr)
c.2158G>T (p.Asp720Tyr)
c.2125G>T (p.Asp709Tyr)
n.3159G>T
c.2338G>T (p.Asp780Tyr)
n.3153G>T
Xg.53243385C>GCA413153720IQSEC2c.2995G>C (p.Asp999His)
c.788G>C
c.297G>C
c.126G>C
c.2836G>C (p.Asp946His)
n.587G>C
c.2806G>C (p.Asp936His)
c.2221G>C (p.Asp741His)
c.2932G>C (p.Asp978His)
c.2158G>C (p.Asp720His)
c.2125G>C (p.Asp709His)
n.3159G>C
c.2338G>C (p.Asp780His)
n.3153G>C
Xg.53243385C>TCA413153718IQSEC2c.2995G>A (p.Asp999Asn)
c.788G>A
c.297G>A
c.126G>A
c.2836G>A (p.Asp946Asn)
n.587G>A
c.2806G>A (p.Asp936Asn)
c.2221G>A (p.Asp741Asn)
c.2932G>A (p.Asp978Asn)
c.2158G>A (p.Asp720Asn)
c.2125G>A (p.Asp709Asn)
n.3159G>A
c.2338G>A (p.Asp780Asn)
n.3153G>A
Xg.53243386A=CA2429773360IQSEC2c.2994T= (p.Asp998=)
c.787T=
c.296T=
c.125T=
c.2835T= (p.Asp945=)
n.586T=
c.2805T= (p.Asp935=)
c.2220T= (p.Asp740=)
c.2931T= (p.Asp977=)
c.2157T= (p.Asp719=)
c.2124T= (p.Asp708=)
n.3158T=
c.2337T= (p.Asp779=)
n.3152T=
Xg.53243386A>CCA10419885IQSEC2c.2994T>G (p.Asp998Glu)
c.787T>G
c.296T>G
c.125T>G
c.2835T>G (p.Asp945Glu)
n.586T>G
c.2805T>G (p.Asp935Glu)
c.2220T>G (p.Asp740Glu)
c.2931T>G (p.Asp977Glu)
c.2157T>G (p.Asp719Glu)
c.2124T>G (p.Asp708Glu)
n.3158T>G
c.2337T>G (p.Asp779Glu)
n.3152T>G
 dbSNP ExAC gnomAD v2
Xg.53243386A>GCA516426308IQSEC2c.2994T>C (p.Asp998=)
c.787T>C
c.296T>C
c.125T>C
c.2835T>C (p.Asp945=)
n.586T>C
c.2805T>C (p.Asp935=)
c.2220T>C (p.Asp740=)
c.2931T>C (p.Asp977=)
c.2157T>C (p.Asp719=)
c.2124T>C (p.Asp708=)
n.3158T>C
c.2337T>C (p.Asp779=)
n.3152T>C
Xg.53243386A>TCA413153728IQSEC2c.2994T>A (p.Asp998Glu)
c.787T>A
c.296T>A
c.125T>A
c.2835T>A (p.Asp945Glu)
n.586T>A
c.2805T>A (p.Asp935Glu)
c.2220T>A (p.Asp740Glu)
c.2931T>A (p.Asp977Glu)
c.2157T>A (p.Asp719Glu)
c.2124T>A (p.Asp708Glu)
n.3158T>A
c.2337T>A (p.Asp779Glu)
n.3152T>A
Xg.53243387T>ACA413153733IQSEC2c.2993A>T (p.Asp998Val)
c.786A>T
c.295A>T
c.124A>T
c.2834A>T (p.Asp945Val)
n.585A>T
c.2804A>T (p.Asp935Val)
c.2219A>T (p.Asp740Val)
c.2930A>T (p.Asp977Val)
c.2156A>T (p.Asp719Val)
c.2123A>T (p.Asp708Val)
n.3157A>T
c.2336A>T (p.Asp779Val)
n.3151A>T
 gnomAD v4
Xg.53243387T>CCA413153736IQSEC2c.2993A>G (p.Asp998Gly)
c.786A>G
c.295A>G
c.124A>G
c.2834A>G (p.Asp945Gly)
n.585A>G
c.2804A>G (p.Asp935Gly)
c.2219A>G (p.Asp740Gly)
c.2930A>G (p.Asp977Gly)
c.2156A>G (p.Asp719Gly)
c.2123A>G (p.Asp708Gly)
n.3157A>G
c.2336A>G (p.Asp779Gly)
n.3151A>G
Xg.53243387T>GCA413153737IQSEC2c.2993A>C (p.Asp998Ala)
c.786A>C
c.295A>C
c.124A>C
c.2834A>C (p.Asp945Ala)
n.585A>C
c.2804A>C (p.Asp935Ala)
c.2219A>C (p.Asp740Ala)
c.2930A>C (p.Asp977Ala)
c.2156A>C (p.Asp719Ala)
c.2123A>C (p.Asp708Ala)
n.3157A>C
c.2336A>C (p.Asp779Ala)
n.3151A>C
Xg.53243388C>ACA413153741IQSEC2c.2992G>T (p.Asp998Tyr)
c.785G>T
c.294G>T
c.123G>T
c.2833G>T (p.Asp945Tyr)
n.584G>T
c.2803G>T (p.Asp935Tyr)
c.2218G>T (p.Asp740Tyr)
c.2929G>T (p.Asp977Tyr)
c.2155G>T (p.Asp719Tyr)
c.2122G>T (p.Asp708Tyr)
n.3156G>T
c.2335G>T (p.Asp779Tyr)
n.3150G>T
Xg.53243388C=CA2429773361IQSEC2c.2992G= (p.Asp998=)
c.785G=
c.294G=
c.123G=
c.2833G= (p.Asp945=)
n.584G=
c.2803G= (p.Asp935=)
c.2218G= (p.Asp740=)
c.2929G= (p.Asp977=)
c.2155G= (p.Asp719=)
c.2122G= (p.Asp708=)
n.3156G=
c.2335G= (p.Asp779=)
n.3150G=
Xg.53243388C>GCA413153739IQSEC2c.2992G>C (p.Asp998His)
c.785G>C
c.294G>C
c.123G>C
c.2833G>C (p.Asp945His)
n.584G>C
c.2803G>C (p.Asp935His)
c.2218G>C (p.Asp740His)
c.2929G>C (p.Asp977His)
c.2155G>C (p.Asp719His)
c.2122G>C (p.Asp708His)
n.3156G>C
c.2335G>C (p.Asp779His)
n.3150G>C
Xg.53243388C>TCA10419886IQSEC2c.2992G>A (p.Asp998Asn)
c.785G>A
c.294G>A
c.123G>A
c.2833G>A (p.Asp945Asn)
n.584G>A
c.2803G>A (p.Asp935Asn)
c.2218G>A (p.Asp740Asn)
c.2929G>A (p.Asp977Asn)
c.2155G>A (p.Asp719Asn)
c.2122G>A (p.Asp708Asn)
n.3156G>A
c.2335G>A (p.Asp779Asn)
n.3150G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53243389G>ACA10419887IQSEC2c.2991C>T (p.Asn997=)
c.784C>T
c.293C>T
c.122C>T
c.2832C>T (p.Asn944=)
n.583C>T
c.2802C>T (p.Asn934=)
c.2217C>T (p.Asn739=)
c.2928C>T (p.Asn976=)
c.2154C>T (p.Asn718=)
c.2121C>T (p.Asn707=)
n.3155C>T
c.2334C>T (p.Asn778=)
n.3149C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243389G>CCA413153749IQSEC2c.2991C>G (p.Asn997Lys)
c.784C>G
c.293C>G
c.122C>G
c.2832C>G (p.Asn944Lys)
n.583C>G
c.2802C>G (p.Asn934Lys)
c.2217C>G (p.Asn739Lys)
c.2928C>G (p.Asn976Lys)
c.2154C>G (p.Asn718Lys)
c.2121C>G (p.Asn707Lys)
n.3155C>G
c.2334C>G (p.Asn778Lys)
n.3149C>G
Xg.53243389G=CA2429773362IQSEC2c.2991C= (p.Asn997=)
c.784C=
c.293C=
c.122C=
c.2832C= (p.Asn944=)
n.583C=
c.2802C= (p.Asn934=)
c.2217C= (p.Asn739=)
c.2928C= (p.Asn976=)
c.2154C= (p.Asn718=)
c.2121C= (p.Asn707=)
n.3155C=
c.2334C= (p.Asn778=)
n.3149C=
Xg.53243389G>TCA413153767IQSEC2c.2991C>A (p.Asn997Lys)
c.784C>A
c.293C>A
c.122C>A
c.2832C>A (p.Asn944Lys)
n.583C>A
c.2802C>A (p.Asn934Lys)
c.2217C>A (p.Asn739Lys)
c.2928C>A (p.Asn976Lys)
c.2154C>A (p.Asn718Lys)
c.2121C>A (p.Asn707Lys)
n.3155C>A
c.2334C>A (p.Asn778Lys)
n.3149C>A
Xg.53243390T>ACA413153772IQSEC2c.2990A>T (p.Asn997Ile)
c.783A>T
c.292A>T
c.121A>T
c.2831A>T (p.Asn944Ile)
n.582A>T
c.2801A>T (p.Asn934Ile)
c.2216A>T (p.Asn739Ile)
c.2927A>T (p.Asn976Ile)
c.2153A>T (p.Asn718Ile)
c.2120A>T (p.Asn707Ile)
n.3154A>T
c.2333A>T (p.Asn778Ile)
n.3148A>T
Xg.53243390T>CCA329164390IQSEC2c.2990A>G (p.Asn997Ser)
c.783A>G
c.292A>G
c.121A>G
c.2831A>G (p.Asn944Ser)
n.582A>G
c.2801A>G (p.Asn934Ser)
c.2216A>G (p.Asn739Ser)
c.2927A>G (p.Asn976Ser)
c.2153A>G (p.Asn718Ser)
c.2120A>G (p.Asn707Ser)
n.3154A>G
c.2333A>G (p.Asn778Ser)
n.3148A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243390T>GCA413153776IQSEC2c.2990A>C (p.Asn997Thr)
c.783A>C
c.292A>C
c.121A>C
c.2831A>C (p.Asn944Thr)
n.582A>C
c.2801A>C (p.Asn934Thr)
c.2216A>C (p.Asn739Thr)
c.2927A>C (p.Asn976Thr)
c.2153A>C (p.Asn718Thr)
c.2120A>C (p.Asn707Thr)
n.3154A>C
c.2333A>C (p.Asn778Thr)
n.3148A>C
Xg.53243390T=CA2429773363IQSEC2c.2990A= (p.Asn997=)
c.783A=
c.292A=
c.121A=
c.2831A= (p.Asn944=)
n.582A=
c.2801A= (p.Asn934=)
c.2216A= (p.Asn739=)
c.2927A= (p.Asn976=)
c.2153A= (p.Asn718=)
c.2120A= (p.Asn707=)
n.3154A=
c.2333A= (p.Asn778=)
n.3148A=
Xg.53243391T>ACA413153779IQSEC2c.2989A>T (p.Asn997Tyr)
c.782A>T
c.291A>T
c.120A>T
c.2830A>T (p.Asn944Tyr)
n.581A>T
c.2800A>T (p.Asn934Tyr)
c.2215A>T (p.Asn739Tyr)
c.2926A>T (p.Asn976Tyr)
c.2152A>T (p.Asn718Tyr)
c.2119A>T (p.Asn707Tyr)
n.3153A>T
c.2332A>T (p.Asn778Tyr)
n.3147A>T
Xg.53243391T>CCA413153786IQSEC2c.2989A>G (p.Asn997Asp)
c.782A>G
c.291A>G
c.120A>G
c.2830A>G (p.Asn944Asp)
n.581A>G
c.2800A>G (p.Asn934Asp)
c.2215A>G (p.Asn739Asp)
c.2926A>G (p.Asn976Asp)
c.2152A>G (p.Asn718Asp)
c.2119A>G (p.Asn707Asp)
n.3153A>G
c.2332A>G (p.Asn778Asp)
n.3147A>G
Xg.53243391T>GCA413153783IQSEC2c.2989A>C (p.Asn997His)
c.782A>C
c.291A>C
c.120A>C
c.2830A>C (p.Asn944His)
n.581A>C
c.2800A>C (p.Asn934His)
c.2215A>C (p.Asn739His)
c.2926A>C (p.Asn976His)
c.2152A>C (p.Asn718His)
c.2119A>C (p.Asn707His)
n.3153A>C
c.2332A>C (p.Asn778His)
n.3147A>C
Xg.53243392G>ACA516426328IQSEC2c.2988C>T (p.Thr996=)
c.781C>T
c.290C>T
c.119C>T
c.2829C>T (p.Thr943=)
n.580C>T
c.2799C>T (p.Thr933=)
c.2214C>T (p.Thr738=)
c.2925C>T (p.Thr975=)
c.2151C>T (p.Thr717=)
c.2118C>T (p.Thr706=)
n.3152C>T
c.2331C>T (p.Thr777=)
n.3146C>T
Xg.53243392G>CCA516426329IQSEC2c.2988C>G (p.Thr996=)
c.781C>G
c.290C>G
c.119C>G
c.2829C>G (p.Thr943=)
n.580C>G
c.2799C>G (p.Thr933=)
c.2214C>G (p.Thr738=)
c.2925C>G (p.Thr975=)
c.2151C>G (p.Thr717=)
c.2118C>G (p.Thr706=)
n.3152C>G
c.2331C>G (p.Thr777=)
n.3146C>G
Xg.53243392G>TCA516426331IQSEC2c.2988C>A (p.Thr996=)
c.781C>A
c.290C>A
c.119C>A
c.2829C>A (p.Thr943=)
n.580C>A
c.2799C>A (p.Thr933=)
c.2214C>A (p.Thr738=)
c.2925C>A (p.Thr975=)
c.2151C>A (p.Thr717=)
c.2118C>A (p.Thr706=)
n.3152C>A
c.2331C>A (p.Thr777=)
n.3146C>A
 gnomAD v4
Xg.53243393G>ACA413153793IQSEC2c.2987C>T (p.Thr996Ile)
c.780C>T
c.289C>T
c.118C>T
c.2828C>T (p.Thr943Ile)
n.579C>T
c.2798C>T (p.Thr933Ile)
c.2213C>T (p.Thr738Ile)
c.2924C>T (p.Thr975Ile)
c.2150C>T (p.Thr717Ile)
c.2117C>T (p.Thr706Ile)
n.3151C>T
c.2330C>T (p.Thr777Ile)
n.3145C>T
Xg.53243393G>CCA413153798IQSEC2c.2987C>G (p.Thr996Ser)
c.780C>G
c.289C>G
c.118C>G
c.2828C>G (p.Thr943Ser)
n.579C>G
c.2798C>G (p.Thr933Ser)
c.2213C>G (p.Thr738Ser)
c.2924C>G (p.Thr975Ser)
c.2150C>G (p.Thr717Ser)
c.2117C>G (p.Thr706Ser)
n.3151C>G
c.2330C>G (p.Thr777Ser)
n.3145C>G
 ClinVar gnomAD v4
Xg.53243393G>TCA413153803IQSEC2c.2987C>A (p.Thr996Asn)
c.780C>A
c.289C>A
c.118C>A
c.2828C>A (p.Thr943Asn)
n.579C>A
c.2798C>A (p.Thr933Asn)
c.2213C>A (p.Thr738Asn)
c.2924C>A (p.Thr975Asn)
c.2150C>A (p.Thr717Asn)
c.2117C>A (p.Thr706Asn)
n.3151C>A
c.2330C>A (p.Thr777Asn)
n.3145C>A
Xg.53243394T>ACA413153809IQSEC2c.2986A>T (p.Thr996Ser)
c.779A>T
c.288A>T
c.117A>T
c.2827A>T (p.Thr943Ser)
n.578A>T
c.2797A>T (p.Thr933Ser)
c.2212A>T (p.Thr738Ser)
c.2923A>T (p.Thr975Ser)
c.2149A>T (p.Thr717Ser)
c.2116A>T (p.Thr706Ser)
n.3150A>T
c.2329A>T (p.Thr777Ser)
n.3144A>T
 gnomAD v4
Xg.53243394T>CCA413153810IQSEC2c.2986A>G (p.Thr996Ala)
c.779A>G
c.288A>G
c.117A>G
c.2827A>G (p.Thr943Ala)
n.578A>G
c.2797A>G (p.Thr933Ala)
c.2212A>G (p.Thr738Ala)
c.2923A>G (p.Thr975Ala)
c.2149A>G (p.Thr717Ala)
c.2116A>G (p.Thr706Ala)
n.3150A>G
c.2329A>G (p.Thr777Ala)
n.3144A>G
Xg.53243394T>GCA413153811IQSEC2c.2986A>C (p.Thr996Pro)
c.779A>C
c.288A>C
c.117A>C
c.2827A>C (p.Thr943Pro)
n.578A>C
c.2797A>C (p.Thr933Pro)
c.2212A>C (p.Thr738Pro)
c.2923A>C (p.Thr975Pro)
c.2149A>C (p.Thr717Pro)
c.2116A>C (p.Thr706Pro)
n.3150A>C
c.2329A>C (p.Thr777Pro)
n.3144A>C
Xg.53243395C>ACA516426342IQSEC2c.2985G>T (p.Arg995=)
c.778G>T
c.287G>T
c.116G>T
c.2826G>T (p.Arg942=)
n.577G>T
c.2796G>T (p.Arg932=)
c.2211G>T (p.Arg737=)
c.2922G>T (p.Arg974=)
c.2148G>T (p.Arg716=)
c.2115G>T (p.Arg705=)
n.3149G>T
c.2328G>T (p.Arg776=)
n.3143G>T
 gnomAD v4
Xg.53243395C=CA2429773364IQSEC2c.2985G= (p.Arg995=)
c.778G=
c.287G=
c.116G=
c.2826G= (p.Arg942=)
n.577G=
c.2796G= (p.Arg932=)
c.2211G= (p.Arg737=)
c.2922G= (p.Arg974=)
c.2148G= (p.Arg716=)
c.2115G= (p.Arg705=)
n.3149G=
c.2328G= (p.Arg776=)
n.3143G=
Xg.53243395C>GCA516426344IQSEC2c.2985G>C (p.Arg995=)
c.778G>C
c.287G>C
c.116G>C
c.2826G>C (p.Arg942=)
n.577G>C
c.2796G>C (p.Arg932=)
c.2211G>C (p.Arg737=)
c.2922G>C (p.Arg974=)
c.2148G>C (p.Arg716=)
c.2115G>C (p.Arg705=)
n.3149G>C
c.2328G>C (p.Arg776=)
n.3143G>C
Xg.53243395C>TCA516426345IQSEC2c.2985G>A (p.Arg995=)
c.778G>A
c.287G>A
c.116G>A
c.2826G>A (p.Arg942=)
n.577G>A
c.2796G>A (p.Arg932=)
c.2211G>A (p.Arg737=)
c.2922G>A (p.Arg974=)
c.2148G>A (p.Arg716=)
c.2115G>A (p.Arg705=)
n.3149G>A
c.2328G>A (p.Arg776=)
n.3143G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53243396C>ACA413153812IQSEC2c.2984G>T (p.Arg995Leu)
c.777G>T
c.286G>T
c.115G>T
c.2825G>T (p.Arg942Leu)
n.576G>T
c.2795G>T (p.Arg932Leu)
c.2210G>T (p.Arg737Leu)
c.2921G>T (p.Arg974Leu)
c.2147G>T (p.Arg716Leu)
c.2114G>T (p.Arg705Leu)
n.3148G>T
c.2327G>T (p.Arg776Leu)
n.3142G>T
 gnomAD v4
Xg.53243396C=CA2429773365IQSEC2c.2984G= (p.Arg995=)
c.777G=
c.286G=
c.115G=
c.2825G= (p.Arg942=)
n.576G=
c.2795G= (p.Arg932=)
c.2210G= (p.Arg737=)
c.2921G= (p.Arg974=)
c.2147G= (p.Arg716=)
c.2114G= (p.Arg705=)
n.3148G=
c.2327G= (p.Arg776=)
n.3142G=
Xg.53243396C>GCA413153816IQSEC2c.2984G>C (p.Arg995Pro)
c.777G>C
c.286G>C
c.115G>C
c.2825G>C (p.Arg942Pro)
n.576G>C
c.2795G>C (p.Arg932Pro)
c.2210G>C (p.Arg737Pro)
c.2921G>C (p.Arg974Pro)
c.2147G>C (p.Arg716Pro)
c.2114G>C (p.Arg705Pro)
n.3148G>C
c.2327G>C (p.Arg776Pro)
n.3142G>C
Xg.53243396C>TCA329164394IQSEC2c.2984G>A (p.Arg995Gln)
c.777G>A
c.286G>A
c.115G>A
c.2825G>A (p.Arg942Gln)
n.576G>A
c.2795G>A (p.Arg932Gln)
c.2210G>A (p.Arg737Gln)
c.2921G>A (p.Arg974Gln)
c.2147G>A (p.Arg716Gln)
c.2114G>A (p.Arg705Gln)
n.3148G>A
c.2327G>A (p.Arg776Gln)
n.3142G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243397delCA2820945953IQSEC2c.2983del (p.Arg995GlyfsTer16)
c.776del
c.285del
c.114del
c.2824del (p.Arg942GlyfsTer16)
n.575del
c.2794del (p.Arg932GlyfsTer16)
c.2209del (p.Arg737GlyfsTer16)
c.2920del (p.Arg974GlyfsTer16)
c.2146del (p.Arg716GlyfsTer16)
c.2113del (p.Arg705GlyfsTer16)
n.3147del
c.2326del (p.Arg776GlyfsTer16)
n.3141del
Xg.53243397G>ACA413153821IQSEC2c.2983C>T (p.Arg995Trp)
c.776C>T
c.285C>T
c.114C>T
c.2824C>T (p.Arg942Trp)
n.575C>T
c.2794C>T (p.Arg932Trp)
c.2209C>T (p.Arg737Trp)
c.2920C>T (p.Arg974Trp)
c.2146C>T (p.Arg716Trp)
c.2113C>T (p.Arg705Trp)
n.3147C>T
c.2326C>T (p.Arg776Trp)
n.3141C>T
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53243397G>CCA413153826IQSEC2c.2983C>G (p.Arg995Gly)
c.776C>G
c.285C>G
c.114C>G
c.2824C>G (p.Arg942Gly)
n.575C>G
c.2794C>G (p.Arg932Gly)
c.2209C>G (p.Arg737Gly)
c.2920C>G (p.Arg974Gly)
c.2146C>G (p.Arg716Gly)
c.2113C>G (p.Arg705Gly)
n.3147C>G
c.2326C>G (p.Arg776Gly)
n.3141C>G
Xg.53243397G=CA2429773366IQSEC2c.2983C= (p.Arg995=)
c.776C=
c.285C=
c.114C=
c.2824C= (p.Arg942=)
n.575C=
c.2794C= (p.Arg932=)
c.2209C= (p.Arg737=)
c.2920C= (p.Arg974=)
c.2146C= (p.Arg716=)
c.2113C= (p.Arg705=)
n.3147C=
c.2326C= (p.Arg776=)
n.3141C=
Xg.53243397G>TCA516426352IQSEC2c.2983C>A (p.Arg995=)
c.776C>A
c.285C>A
c.114C>A
c.2824C>A (p.Arg942=)
n.575C>A
c.2794C>A (p.Arg932=)
c.2209C>A (p.Arg737=)
c.2920C>A (p.Arg974=)
c.2146C>A (p.Arg716=)
c.2113C>A (p.Arg705=)
n.3147C>A
c.2326C>A (p.Arg776=)
n.3141C>A
Xg.53243398C>ACA516426353IQSEC2c.2982G>T (p.Leu994=)
c.775G>T
c.284G>T
c.113G>T
c.2823G>T (p.Leu941=)
n.574G>T
c.2793G>T (p.Leu931=)
c.2208G>T (p.Leu736=)
c.2919G>T (p.Leu973=)
c.2145G>T (p.Leu715=)
c.2112G>T (p.Leu704=)
n.3146G>T
c.2325G>T (p.Leu775=)
n.3140G>T
 gnomAD v4
Xg.53243398C>GCA516426355IQSEC2c.2982G>C (p.Leu994=)
c.775G>C
c.284G>C
c.113G>C
c.2823G>C (p.Leu941=)
n.574G>C
c.2793G>C (p.Leu931=)
c.2208G>C (p.Leu736=)
c.2919G>C (p.Leu973=)
c.2145G>C (p.Leu715=)
c.2112G>C (p.Leu704=)
n.3146G>C
c.2325G>C (p.Leu775=)
n.3140G>C
Xg.53243398C>TCA516426357IQSEC2c.2982G>A (p.Leu994=)
c.775G>A
c.284G>A
c.113G>A
c.2823G>A (p.Leu941=)
n.574G>A
c.2793G>A (p.Leu931=)
c.2208G>A (p.Leu736=)
c.2919G>A (p.Leu973=)
c.2145G>A (p.Leu715=)
c.2112G>A (p.Leu704=)
n.3146G>A
c.2325G>A (p.Leu775=)
n.3140G>A
Xg.53243400_53243404dupCA1139667565IQSEC2c.2978_2982dup (p.Arg995AsnfsTer18)
c.771_775dup
c.280_284dup
c.109_113dup
c.2819_2823dup (p.Arg942AsnfsTer18)
n.570_574dup
c.2789_2793dup (p.Arg932AsnfsTer18)
c.2204_2208dup (p.Arg737AsnfsTer18)
c.2915_2919dup (p.Arg974AsnfsTer18)
c.2141_2145dup (p.Arg716AsnfsTer18)
c.2108_2112dup (p.Arg705AsnfsTer18)
n.3142_3146dup
c.2321_2325dup (p.Arg776AsnfsTer18)
n.3136_3140dup
 ClinVar dbSNP
Xg.53243399A>CCA413153837IQSEC2c.2981T>G (p.Leu994Arg)
c.774T>G
c.283T>G
c.112T>G
c.2822T>G (p.Leu941Arg)
n.573T>G
c.2792T>G (p.Leu931Arg)
c.2207T>G (p.Leu736Arg)
c.2918T>G (p.Leu973Arg)
c.2144T>G (p.Leu715Arg)
c.2111T>G (p.Leu704Arg)
n.3145T>G
c.2324T>G (p.Leu775Arg)
n.3139T>G
Xg.53243399A>GCA413153832IQSEC2c.2981T>C (p.Leu994Pro)
c.774T>C
c.283T>C
c.112T>C
c.2822T>C (p.Leu941Pro)
n.573T>C
c.2792T>C (p.Leu931Pro)
c.2207T>C (p.Leu736Pro)
c.2918T>C (p.Leu973Pro)
c.2144T>C (p.Leu715Pro)
c.2111T>C (p.Leu704Pro)
n.3145T>C
c.2324T>C (p.Leu775Pro)
n.3139T>C
Xg.53243399A>TCA413153835IQSEC2c.2981T>A (p.Leu994Gln)
c.774T>A
c.283T>A
c.112T>A
c.2822T>A (p.Leu941Gln)
n.573T>A
c.2792T>A (p.Leu931Gln)
c.2207T>A (p.Leu736Gln)
c.2918T>A (p.Leu973Gln)
c.2144T>A (p.Leu715Gln)
c.2111T>A (p.Leu704Gln)
n.3145T>A
c.2324T>A (p.Leu775Gln)
n.3139T>A
Xg.53243400G>ACA516426365IQSEC2c.2980C>T (p.Leu994=)
c.773C>T
c.282C>T
c.111C>T
c.2821C>T (p.Leu941=)
n.572C>T
c.2791C>T (p.Leu931=)
c.2206C>T (p.Leu736=)
c.2917C>T (p.Leu973=)
c.2143C>T (p.Leu715=)
c.2110C>T (p.Leu704=)
n.3144C>T
c.2323C>T (p.Leu775=)
n.3138C>T
 ClinVar dbSNP gnomAD v4
Xg.53243400G>CCA413153844IQSEC2c.2980C>G (p.Leu994Val)
c.773C>G
c.282C>G
c.111C>G
c.2821C>G (p.Leu941Val)
n.572C>G
c.2791C>G (p.Leu931Val)
c.2206C>G (p.Leu736Val)
c.2917C>G (p.Leu973Val)
c.2143C>G (p.Leu715Val)
c.2110C>G (p.Leu704Val)
n.3144C>G
c.2323C>G (p.Leu775Val)
n.3138C>G
Xg.53243400G>TCA413153849IQSEC2c.2980C>A (p.Leu994Met)
c.773C>A
c.282C>A
c.111C>A
c.2821C>A (p.Leu941Met)
n.572C>A
c.2791C>A (p.Leu931Met)
c.2206C>A (p.Leu736Met)
c.2917C>A (p.Leu973Met)
c.2143C>A (p.Leu715Met)
c.2110C>A (p.Leu704Met)
n.3144C>A
c.2323C>A (p.Leu775Met)
n.3138C>A
Xg.53243401T>ACA413153855IQSEC2c.2979A>T (p.Glu993Asp)
c.772A>T
c.281A>T
c.110A>T
c.2820A>T (p.Glu940Asp)
n.571A>T
c.2790A>T (p.Glu930Asp)
c.2205A>T (p.Glu735Asp)
c.2916A>T (p.Glu972Asp)
c.2142A>T (p.Glu714Asp)
c.2109A>T (p.Glu703Asp)
n.3143A>T
c.2322A>T (p.Glu774Asp)
n.3137A>T
Xg.53243401T>CCA516426367IQSEC2c.2979A>G (p.Glu993=)
c.772A>G
c.281A>G
c.110A>G
c.2820A>G (p.Glu940=)
n.571A>G
c.2790A>G (p.Glu930=)
c.2205A>G (p.Glu735=)
c.2916A>G (p.Glu972=)
c.2142A>G (p.Glu714=)
c.2109A>G (p.Glu703=)
n.3143A>G
c.2322A>G (p.Glu774=)
n.3137A>G
 gnomAD v4
Xg.53243401T>GCA413153859IQSEC2c.2979A>C (p.Glu993Asp)
c.772A>C
c.281A>C
c.110A>C
c.2820A>C (p.Glu940Asp)
n.571A>C
c.2790A>C (p.Glu930Asp)
c.2205A>C (p.Glu735Asp)
c.2916A>C (p.Glu972Asp)
c.2142A>C (p.Glu714Asp)
c.2109A>C (p.Glu703Asp)
n.3143A>C
c.2322A>C (p.Glu774Asp)
n.3137A>C
Xg.53243402T>ACA413153865IQSEC2c.2978A>T (p.Glu993Val)
c.771A>T
c.280A>T
c.109A>T
c.2819A>T (p.Glu940Val)
n.570A>T
c.2789A>T (p.Glu930Val)
c.2204A>T (p.Glu735Val)
c.2915A>T (p.Glu972Val)
c.2141A>T (p.Glu714Val)
c.2108A>T (p.Glu703Val)
n.3142A>T
c.2321A>T (p.Glu774Val)
n.3136A>T
Xg.53243402T>CCA413153868IQSEC2c.2978A>G (p.Glu993Gly)
c.771A>G
c.280A>G
c.109A>G
c.2819A>G (p.Glu940Gly)
n.570A>G
c.2789A>G (p.Glu930Gly)
c.2204A>G (p.Glu735Gly)
c.2915A>G (p.Glu972Gly)
c.2141A>G (p.Glu714Gly)
c.2108A>G (p.Glu703Gly)
n.3142A>G
c.2321A>G (p.Glu774Gly)
n.3136A>G
Xg.53243402T>GCA413153873IQSEC2c.2978A>C (p.Glu993Ala)
c.771A>C
c.280A>C
c.109A>C
c.2819A>C (p.Glu940Ala)
n.570A>C
c.2789A>C (p.Glu930Ala)
c.2204A>C (p.Glu735Ala)
c.2915A>C (p.Glu972Ala)
c.2141A>C (p.Glu714Ala)
c.2108A>C (p.Glu703Ala)
n.3142A>C
c.2321A>C (p.Glu774Ala)
n.3136A>C
Xg.53243403C>ACA413153886IQSEC2c.2977G>T (p.Glu993Ter)
c.770G>T
c.279G>T
c.108G>T
c.2818G>T (p.Glu940Ter)
n.569G>T
c.2788G>T (p.Glu930Ter)
c.2203G>T (p.Glu735Ter)
c.2914G>T (p.Glu972Ter)
c.2140G>T (p.Glu714Ter)
c.2107G>T (p.Glu703Ter)
n.3141G>T
c.2320G>T (p.Glu774Ter)
n.3135G>T
 gnomAD v4
Xg.53243403C>GCA413153884IQSEC2c.2977G>C (p.Glu993Gln)
c.770G>C
c.279G>C
c.108G>C
c.2818G>C (p.Glu940Gln)
n.569G>C
c.2788G>C (p.Glu930Gln)
c.2203G>C (p.Glu735Gln)
c.2914G>C (p.Glu972Gln)
c.2140G>C (p.Glu714Gln)
c.2107G>C (p.Glu703Gln)
n.3141G>C
c.2320G>C (p.Glu774Gln)
n.3135G>C
Xg.53243403C>TCA413153880IQSEC2c.2977G>A (p.Glu993Lys)
c.770G>A
c.279G>A
c.108G>A
c.2818G>A (p.Glu940Lys)
n.569G>A
c.2788G>A (p.Glu930Lys)
c.2203G>A (p.Glu735Lys)
c.2914G>A (p.Glu972Lys)
c.2140G>A (p.Glu714Lys)
c.2107G>A (p.Glu703Lys)
n.3141G>A
c.2320G>A (p.Glu774Lys)
n.3135G>A
 gnomAD v4
Xg.53243404A>CCA516426371IQSEC2c.2976T>G (p.Arg992=)
c.769T>G
c.278T>G
c.107T>G
c.2817T>G (p.Arg939=)
n.568T>G
c.2787T>G (p.Arg929=)
c.2202T>G (p.Arg734=)
c.2913T>G (p.Arg971=)
c.2139T>G (p.Arg713=)
c.2106T>G (p.Arg702=)
n.3140T>G
c.2319T>G (p.Arg773=)
n.3134T>G
 gnomAD v4
Xg.53243404A>GCA516426372IQSEC2c.2976T>C (p.Arg992=)
c.769T>C
c.278T>C
c.107T>C
c.2817T>C (p.Arg939=)
n.568T>C
c.2787T>C (p.Arg929=)
c.2202T>C (p.Arg734=)
c.2913T>C (p.Arg971=)
c.2139T>C (p.Arg713=)
c.2106T>C (p.Arg702=)
n.3140T>C
c.2319T>C (p.Arg773=)
n.3134T>C
 gnomAD v4
Xg.53243404A>TCA516426373IQSEC2c.2976T>A (p.Arg992=)
c.769T>A
c.278T>A
c.107T>A
c.2817T>A (p.Arg939=)
n.568T>A
c.2787T>A (p.Arg929=)
c.2202T>A (p.Arg734=)
c.2913T>A (p.Arg971=)
c.2139T>A (p.Arg713=)
c.2106T>A (p.Arg702=)
n.3140T>A
c.2319T>A (p.Arg773=)
n.3134T>A
Xg.53243405C>ACA413153892IQSEC2c.2975G>T (p.Arg992Leu)
c.768G>T
c.277G>T
c.106G>T
c.2816G>T (p.Arg939Leu)
n.567G>T
c.2786G>T (p.Arg929Leu)
c.2201G>T (p.Arg734Leu)
c.2912G>T (p.Arg971Leu)
c.2138G>T (p.Arg713Leu)
c.2105G>T (p.Arg702Leu)
n.3139G>T
c.2318G>T (p.Arg773Leu)
n.3133G>T
 gnomAD v4
Xg.53243405C=CA2429773367IQSEC2c.2975G= (p.Arg992=)
c.768G=
c.277G=
c.106G=
c.2816G= (p.Arg939=)
n.567G=
c.2786G= (p.Arg929=)
c.2201G= (p.Arg734=)
c.2912G= (p.Arg971=)
c.2138G= (p.Arg713=)
c.2105G= (p.Arg702=)
n.3139G=
c.2318G= (p.Arg773=)
n.3133G=
Xg.53243405C>GCA413153893IQSEC2c.2975G>C (p.Arg992Pro)
c.768G>C
c.277G>C
c.106G>C
c.2816G>C (p.Arg939Pro)
n.567G>C
c.2786G>C (p.Arg929Pro)
c.2201G>C (p.Arg734Pro)
c.2912G>C (p.Arg971Pro)
c.2138G>C (p.Arg713Pro)
c.2105G>C (p.Arg702Pro)
n.3139G>C
c.2318G>C (p.Arg773Pro)
n.3133G>C
Xg.53243405C>TCA10419888IQSEC2c.2975G>A (p.Arg992His)
c.768G>A
c.277G>A
c.106G>A
c.2816G>A (p.Arg939His)
n.567G>A
c.2786G>A (p.Arg929His)
c.2201G>A (p.Arg734His)
c.2912G>A (p.Arg971His)
c.2138G>A (p.Arg713His)
c.2105G>A (p.Arg702His)
n.3139G>A
c.2318G>A (p.Arg773His)
n.3133G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243406G>ACA413153899IQSEC2c.2974C>T (p.Arg992Cys)
c.767C>T
c.276C>T
c.105C>T
c.2815C>T (p.Arg939Cys)
n.566C>T
c.2785C>T (p.Arg929Cys)
c.2200C>T (p.Arg734Cys)
c.2911C>T (p.Arg971Cys)
c.2137C>T (p.Arg713Cys)
c.2104C>T (p.Arg702Cys)
n.3138C>T
c.2317C>T (p.Arg773Cys)
n.3132C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53243406G>CCA413153906IQSEC2c.2974C>G (p.Arg992Gly)
c.767C>G
c.276C>G
c.105C>G
c.2815C>G (p.Arg939Gly)
n.566C>G
c.2785C>G (p.Arg929Gly)
c.2200C>G (p.Arg734Gly)
c.2911C>G (p.Arg971Gly)
c.2137C>G (p.Arg713Gly)
c.2104C>G (p.Arg702Gly)
n.3138C>G
c.2317C>G (p.Arg773Gly)
n.3132C>G
Xg.53243406G=CA2429773368IQSEC2c.2974C= (p.Arg992=)
c.767C=
c.276C=
c.105C=
c.2815C= (p.Arg939=)
n.566C=
c.2785C= (p.Arg929=)
c.2200C= (p.Arg734=)
c.2911C= (p.Arg971=)
c.2137C= (p.Arg713=)
c.2104C= (p.Arg702=)
n.3138C=
c.2317C= (p.Arg773=)
n.3132C=
Xg.53243406G>TCA413153909IQSEC2c.2974C>A (p.Arg992Ser)
c.767C>A
c.276C>A
c.105C>A
c.2815C>A (p.Arg939Ser)
n.566C>A
c.2785C>A (p.Arg929Ser)
c.2200C>A (p.Arg734Ser)
c.2911C>A (p.Arg971Ser)
c.2137C>A (p.Arg713Ser)
c.2104C>A (p.Arg702Ser)
n.3138C>A
c.2317C>A (p.Arg773Ser)
n.3132C>A
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53243407C>ACA516426378IQSEC2c.2973G>T (p.Gly991=)
c.766G>T
c.275G>T
c.104G>T
c.2814G>T (p.Gly938=)
n.565G>T
c.2784G>T (p.Gly928=)
c.2199G>T (p.Gly733=)
c.2910G>T (p.Gly970=)
c.2136G>T (p.Gly712=)
c.2103G>T (p.Gly701=)
n.3137G>T
c.2316G>T (p.Gly772=)
n.3131G>T
 gnomAD v4
Xg.53243407C>GCA516426379IQSEC2c.2973G>C (p.Gly991=)
c.766G>C
c.275G>C
c.104G>C
c.2814G>C (p.Gly938=)
n.565G>C
c.2784G>C (p.Gly928=)
c.2199G>C (p.Gly733=)
c.2910G>C (p.Gly970=)
c.2136G>C (p.Gly712=)
c.2103G>C (p.Gly701=)
n.3137G>C
c.2316G>C (p.Gly772=)
n.3131G>C
Xg.53243407C>TCA516426380IQSEC2c.2973G>A (p.Gly991=)
c.766G>A
c.275G>A
c.104G>A
c.2814G>A (p.Gly938=)
n.565G>A
c.2784G>A (p.Gly928=)
c.2199G>A (p.Gly733=)
c.2910G>A (p.Gly970=)
c.2136G>A (p.Gly712=)
c.2103G>A (p.Gly701=)
n.3137G>A
c.2316G>A (p.Gly772=)
n.3131G>A
Xg.53243408C>ACA413153914IQSEC2c.2972G>T (p.Gly991Val)
c.765G>T
c.274G>T
c.103G>T
c.2813G>T (p.Gly938Val)
n.564G>T
c.2783G>T (p.Gly928Val)
c.2198G>T (p.Gly733Val)
c.2909G>T (p.Gly970Val)
c.2135G>T (p.Gly712Val)
c.2102G>T (p.Gly701Val)
n.3136G>T
c.2315G>T (p.Gly772Val)
n.3130G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53243408C=CA2429773369IQSEC2c.2972G= (p.Gly991=)
c.765G=
c.274G=
c.103G=
c.2813G= (p.Gly938=)
n.564G=
c.2783G= (p.Gly928=)
c.2198G= (p.Gly733=)
c.2909G= (p.Gly970=)
c.2135G= (p.Gly712=)
c.2102G= (p.Gly701=)
n.3136G=
c.2315G= (p.Gly772=)
n.3130G=
Xg.53243408C>GCA413153922IQSEC2c.2972G>C (p.Gly991Ala)
c.765G>C
c.274G>C
c.103G>C
c.2813G>C (p.Gly938Ala)
n.564G>C
c.2783G>C (p.Gly928Ala)
c.2198G>C (p.Gly733Ala)
c.2909G>C (p.Gly970Ala)
c.2135G>C (p.Gly712Ala)
c.2102G>C (p.Gly701Ala)
n.3136G>C
c.2315G>C (p.Gly772Ala)
n.3130G>C
Xg.53243408C>TCA413153918IQSEC2c.2972G>A (p.Gly991Glu)
c.765G>A
c.274G>A
c.103G>A
c.2813G>A (p.Gly938Glu)
n.564G>A
c.2783G>A (p.Gly928Glu)
c.2198G>A (p.Gly733Glu)
c.2909G>A (p.Gly970Glu)
c.2135G>A (p.Gly712Glu)
c.2102G>A (p.Gly701Glu)
n.3136G>A
c.2315G>A (p.Gly772Glu)
n.3130G>A
 gnomAD v4
Xg.53243409C>ACA413153923IQSEC2c.2971G>T (p.Gly991Trp)
c.764G>T
c.273G>T
c.102G>T
c.2812G>T (p.Gly938Trp)
n.563G>T
c.2782G>T (p.Gly928Trp)
c.2197G>T (p.Gly733Trp)
c.2908G>T (p.Gly970Trp)
c.2134G>T (p.Gly712Trp)
c.2101G>T (p.Gly701Trp)
n.3135G>T
c.2314G>T (p.Gly772Trp)
n.3129G>T
 gnomAD v4
Xg.53243409C>GCA413153924IQSEC2c.2971G>C (p.Gly991Arg)
c.764G>C
c.273G>C
c.102G>C
c.2812G>C (p.Gly938Arg)
n.563G>C
c.2782G>C (p.Gly928Arg)
c.2197G>C (p.Gly733Arg)
c.2908G>C (p.Gly970Arg)
c.2134G>C (p.Gly712Arg)
c.2101G>C (p.Gly701Arg)
n.3135G>C
c.2314G>C (p.Gly772Arg)
n.3129G>C
 gnomAD v4
Xg.53243409C>TCA413153925IQSEC2c.2971G>A (p.Gly991Arg)
c.764G>A
c.273G>A
c.102G>A
c.2812G>A (p.Gly938Arg)
n.563G>A
c.2782G>A (p.Gly928Arg)
c.2197G>A (p.Gly733Arg)
c.2908G>A (p.Gly970Arg)
c.2134G>A (p.Gly712Arg)
c.2101G>A (p.Gly701Arg)
n.3135G>A
c.2314G>A (p.Gly772Arg)
n.3129G>A
Xg.53243410C>ACA413153926IQSEC2c.2970G>T (p.Gln990His)
c.763G>T
c.272G>T
c.101G>T
c.2811G>T (p.Gln937His)
n.562G>T
c.2781G>T (p.Gln927His)
c.2196G>T (p.Gln732His)
c.2907G>T (p.Gln969His)
c.2133G>T (p.Gln711His)
c.2100G>T (p.Gln700His)
n.3134G>T
c.2313G>T (p.Gln771His)
n.3128G>T
 gnomAD v4
Xg.53243410C=CA2429773370IQSEC2c.2970G= (p.Gln990=)
c.763G=
c.272G=
c.101G=
c.2811G= (p.Gln937=)
n.562G=
c.2781G= (p.Gln927=)
c.2196G= (p.Gln732=)
c.2907G= (p.Gln969=)
c.2133G= (p.Gln711=)
c.2100G= (p.Gln700=)
n.3134G=
c.2313G= (p.Gln771=)
n.3128G=
Xg.53243410C>GCA413153928IQSEC2c.2970G>C (p.Gln990His)
c.763G>C
c.272G>C
c.101G>C
c.2811G>C (p.Gln937His)
n.562G>C
c.2781G>C (p.Gln927His)
c.2196G>C (p.Gln732His)
c.2907G>C (p.Gln969His)
c.2133G>C (p.Gln711His)
c.2100G>C (p.Gln700His)
n.3134G>C
c.2313G>C (p.Gln771His)
n.3128G>C
 ClinVar dbSNP
Xg.53243410C>TCA10419889IQSEC2c.2970G>A (p.Gln990=)
c.763G>A
c.272G>A
c.101G>A
c.2811G>A (p.Gln937=)
n.562G>A
c.2781G>A (p.Gln927=)
c.2196G>A (p.Gln732=)
c.2907G>A (p.Gln969=)
c.2133G>A (p.Gln711=)
c.2100G>A (p.Gln700=)
n.3134G>A
c.2313G>A (p.Gln771=)
n.3128G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243411delCA2695234295IQSEC2c.2969del (p.Gln990ArgfsTer21)
c.762del
c.271del
c.100del
c.2810del (p.Gln937ArgfsTer21)
n.561del
c.2780del (p.Gln927ArgfsTer21)
c.2195del (p.Gln732ArgfsTer21)
c.2906del (p.Gln969ArgfsTer21)
c.2132del (p.Gln711ArgfsTer21)
c.2099del (p.Gln700ArgfsTer21)
n.3133del
c.2312del (p.Gln771ArgfsTer21)
n.3127del
Xg.53243411T>ACA413153931IQSEC2c.2969A>T (p.Gln990Leu)
c.762A>T
c.271A>T
c.100A>T
c.2810A>T (p.Gln937Leu)
n.561A>T
c.2780A>T (p.Gln927Leu)
c.2195A>T (p.Gln732Leu)
c.2906A>T (p.Gln969Leu)
c.2132A>T (p.Gln711Leu)
c.2099A>T (p.Gln700Leu)
n.3133A>T
c.2312A>T (p.Gln771Leu)
n.3127A>T
 gnomAD v4
Xg.53243411T>CCA413153948IQSEC2c.2969A>G (p.Gln990Arg)
c.762A>G
c.271A>G
c.100A>G
c.2810A>G (p.Gln937Arg)
n.561A>G
c.2780A>G (p.Gln927Arg)
c.2195A>G (p.Gln732Arg)
c.2906A>G (p.Gln969Arg)
c.2132A>G (p.Gln711Arg)
c.2099A>G (p.Gln700Arg)
n.3133A>G
c.2312A>G (p.Gln771Arg)
n.3127A>G
 gnomAD v4
Xg.53243411T>GCA413153954IQSEC2c.2969A>C (p.Gln990Pro)
c.762A>C
c.271A>C
c.100A>C
c.2810A>C (p.Gln937Pro)
n.561A>C
c.2780A>C (p.Gln927Pro)
c.2195A>C (p.Gln732Pro)
c.2906A>C (p.Gln969Pro)
c.2132A>C (p.Gln711Pro)
c.2099A>C (p.Gln700Pro)
n.3133A>C
c.2312A>C (p.Gln771Pro)
n.3127A>C
Xg.53243412G>ACA413153960IQSEC2c.2968C>T (p.Gln990Ter)
c.761C>T
c.270C>T
c.99C>T
c.2809C>T (p.Gln937Ter)
n.560C>T
c.2779C>T (p.Gln927Ter)
c.2194C>T (p.Gln732Ter)
c.2905C>T (p.Gln969Ter)
c.2131C>T (p.Gln711Ter)
c.2098C>T (p.Gln700Ter)
n.3132C>T
c.2311C>T (p.Gln771Ter)
n.3126C>T
 gnomAD v4
Xg.53243412G>CCA413153966IQSEC2c.2968C>G (p.Gln990Glu)
c.761C>G
c.270C>G
c.99C>G
c.2809C>G (p.Gln937Glu)
n.560C>G
c.2779C>G (p.Gln927Glu)
c.2194C>G (p.Gln732Glu)
c.2905C>G (p.Gln969Glu)
c.2131C>G (p.Gln711Glu)
c.2098C>G (p.Gln700Glu)
n.3132C>G
c.2311C>G (p.Gln771Glu)
n.3126C>G
Xg.53243412G>TCA413153969IQSEC2c.2968C>A (p.Gln990Lys)
c.761C>A
c.270C>A
c.99C>A
c.2809C>A (p.Gln937Lys)
n.560C>A
c.2779C>A (p.Gln927Lys)
c.2194C>A (p.Gln732Lys)
c.2905C>A (p.Gln969Lys)
c.2131C>A (p.Gln711Lys)
c.2098C>A (p.Gln700Lys)
n.3132C>A
c.2311C>A (p.Gln771Lys)
n.3126C>A
 gnomAD v4
Xg.53243413G>ACA516426396IQSEC2c.2967C>T (p.Ile989=)
c.760C>T
c.269C>T
c.98C>T
c.2808C>T (p.Ile936=)
n.559C>T
c.2778C>T (p.Ile926=)
c.2193C>T (p.Ile731=)
c.2904C>T (p.Ile968=)
c.2130C>T (p.Ile710=)
c.2097C>T (p.Ile699=)
n.3131C>T
c.2310C>T (p.Ile770=)
n.3125C>T
Xg.53243413G>CCA413153974IQSEC2c.2967C>G (p.Ile989Met)
c.760C>G
c.269C>G
c.98C>G
c.2808C>G (p.Ile936Met)
n.559C>G
c.2778C>G (p.Ile926Met)
c.2193C>G (p.Ile731Met)
c.2904C>G (p.Ile968Met)
c.2130C>G (p.Ile710Met)
c.2097C>G (p.Ile699Met)
n.3131C>G
c.2310C>G (p.Ile770Met)
n.3125C>G
Xg.53243413G>TCA516426397IQSEC2c.2967C>A (p.Ile989=)
c.760C>A
c.269C>A
c.98C>A
c.2808C>A (p.Ile936=)
n.559C>A
c.2778C>A (p.Ile926=)
c.2193C>A (p.Ile731=)
c.2904C>A (p.Ile968=)
c.2130C>A (p.Ile710=)
c.2097C>A (p.Ile699=)
n.3131C>A
c.2310C>A (p.Ile770=)
n.3125C>A
 gnomAD v4
Xg.53243414A>CCA413153983IQSEC2c.2966T>G (p.Ile989Ser)
c.759T>G
c.268T>G
c.97T>G
c.2807T>G (p.Ile936Ser)
n.558T>G
c.2777T>G (p.Ile926Ser)
c.2192T>G (p.Ile731Ser)
c.2903T>G (p.Ile968Ser)
c.2129T>G (p.Ile710Ser)
c.2096T>G (p.Ile699Ser)
n.3130T>G
c.2309T>G (p.Ile770Ser)
n.3124T>G
Xg.53243414A>GCA413153978IQSEC2c.2966T>C (p.Ile989Thr)
c.759T>C
c.268T>C
c.97T>C
c.2807T>C (p.Ile936Thr)
n.558T>C
c.2777T>C (p.Ile926Thr)
c.2192T>C (p.Ile731Thr)
c.2903T>C (p.Ile968Thr)
c.2129T>C (p.Ile710Thr)
c.2096T>C (p.Ile699Thr)
n.3130T>C
c.2309T>C (p.Ile770Thr)
n.3124T>C
Xg.53243414A>TCA413153982IQSEC2c.2966T>A (p.Ile989Asn)
c.759T>A
c.268T>A
c.97T>A
c.2807T>A (p.Ile936Asn)
n.558T>A
c.2777T>A (p.Ile926Asn)
c.2192T>A (p.Ile731Asn)
c.2903T>A (p.Ile968Asn)
c.2129T>A (p.Ile710Asn)
c.2096T>A (p.Ile699Asn)
n.3130T>A
c.2309T>A (p.Ile770Asn)
n.3124T>A
Xg.53243415T>ACA413153984IQSEC2c.2965A>T (p.Ile989Phe)
c.758A>T
c.267A>T
c.96A>T
c.2806A>T (p.Ile936Phe)
n.557A>T
c.2776A>T (p.Ile926Phe)
c.2191A>T (p.Ile731Phe)
c.2902A>T (p.Ile968Phe)
c.2128A>T (p.Ile710Phe)
c.2095A>T (p.Ile699Phe)
n.3129A>T
c.2308A>T (p.Ile770Phe)
n.3123A>T
Xg.53243415T>CCA413153986IQSEC2c.2965A>G (p.Ile989Val)
c.758A>G
c.267A>G
c.96A>G
c.2806A>G (p.Ile936Val)
n.557A>G
c.2776A>G (p.Ile926Val)
c.2191A>G (p.Ile731Val)
c.2902A>G (p.Ile968Val)
c.2128A>G (p.Ile710Val)
c.2095A>G (p.Ile699Val)
n.3129A>G
c.2308A>G (p.Ile770Val)
n.3123A>G
Xg.53243415T>GCA413153988IQSEC2c.2965A>C (p.Ile989Leu)
c.758A>C
c.267A>C
c.96A>C
c.2806A>C (p.Ile936Leu)
n.557A>C
c.2776A>C (p.Ile926Leu)
c.2191A>C (p.Ile731Leu)
c.2902A>C (p.Ile968Leu)
c.2128A>C (p.Ile710Leu)
c.2095A>C (p.Ile699Leu)
n.3129A>C
c.2308A>C (p.Ile770Leu)
n.3123A>C
 gnomAD v4
Xg.53243416G>ACA516426400IQSEC2c.2964C>T (p.Arg988=)
c.757C>T
c.266C>T
c.95C>T
c.2805C>T (p.Arg935=)
n.556C>T
c.2775C>T (p.Arg925=)
c.2190C>T (p.Arg730=)
c.2901C>T (p.Arg967=)
c.2127C>T (p.Arg709=)
c.2094C>T (p.Arg698=)
n.3128C>T
c.2307C>T (p.Arg769=)
n.3122C>T
Xg.53243416G>CCA516426401IQSEC2c.2964C>G (p.Arg988=)
c.757C>G
c.266C>G
c.95C>G
c.2805C>G (p.Arg935=)
n.556C>G
c.2775C>G (p.Arg925=)
c.2190C>G (p.Arg730=)
c.2901C>G (p.Arg967=)
c.2127C>G (p.Arg709=)
c.2094C>G (p.Arg698=)
n.3128C>G
c.2307C>G (p.Arg769=)
n.3122C>G
Xg.53243416G>TCA516426403IQSEC2c.2964C>A (p.Arg988=)
c.757C>A
c.266C>A
c.95C>A
c.2805C>A (p.Arg935=)
n.556C>A
c.2775C>A (p.Arg925=)
c.2190C>A (p.Arg730=)
c.2901C>A (p.Arg967=)
c.2127C>A (p.Arg709=)
c.2094C>A (p.Arg698=)
n.3128C>A
c.2307C>A (p.Arg769=)
n.3122C>A
 gnomAD v4
Xg.53243417C>ACA413153992IQSEC2c.2963G>T (p.Arg988Leu)
c.756G>T
c.265G>T
c.94G>T
c.2804G>T (p.Arg935Leu)
n.555G>T
c.2774G>T (p.Arg925Leu)
c.2189G>T (p.Arg730Leu)
c.2900G>T (p.Arg967Leu)
c.2126G>T (p.Arg709Leu)
c.2093G>T (p.Arg698Leu)
n.3127G>T
c.2306G>T (p.Arg769Leu)
n.3121G>T
 COSMIC COSMIC COSMIC
Xg.53243417C=CA2429773371IQSEC2c.2963G= (p.Arg988=)
c.756G=
c.265G=
c.94G=
c.2804G= (p.Arg935=)
n.555G=
c.2774G= (p.Arg925=)
c.2189G= (p.Arg730=)
c.2900G= (p.Arg967=)
c.2126G= (p.Arg709=)
c.2093G= (p.Arg698=)
n.3127G=
c.2306G= (p.Arg769=)
n.3121G=
Xg.53243417C>GCA413153996IQSEC2c.2963G>C (p.Arg988Pro)
c.756G>C
c.265G>C
c.94G>C
c.2804G>C (p.Arg935Pro)
n.555G>C
c.2774G>C (p.Arg925Pro)
c.2189G>C (p.Arg730Pro)
c.2900G>C (p.Arg967Pro)
c.2126G>C (p.Arg709Pro)
c.2093G>C (p.Arg698Pro)
n.3127G>C
c.2306G>C (p.Arg769Pro)
n.3121G>C
Xg.53243417C>TCA413154002IQSEC2c.2963G>A (p.Arg988His)
c.756G>A
c.265G>A
c.94G>A
c.2804G>A (p.Arg935His)
n.555G>A
c.2774G>A (p.Arg925His)
c.2189G>A (p.Arg730His)
c.2900G>A (p.Arg967His)
c.2126G>A (p.Arg709His)
c.2093G>A (p.Arg698His)
n.3127G>A
c.2306G>A (p.Arg769His)
n.3121G>A
 dbSNP gnomAD v4
Xg.53243418G>ACA413154005IQSEC2c.2962C>T (p.Arg988Cys)
c.755C>T
c.264C>T
c.93C>T
c.2803C>T (p.Arg935Cys)
n.554C>T
c.2773C>T (p.Arg925Cys)
c.2188C>T (p.Arg730Cys)
c.2899C>T (p.Arg967Cys)
c.2125C>T (p.Arg709Cys)
c.2092C>T (p.Arg698Cys)
n.3126C>T
c.2305C>T (p.Arg769Cys)
n.3120C>T
 ClinVar gnomAD v4
Xg.53243418G>CCA413154009IQSEC2c.2962C>G (p.Arg988Gly)
c.755C>G
c.264C>G
c.93C>G
c.2803C>G (p.Arg935Gly)
n.554C>G
c.2773C>G (p.Arg925Gly)
c.2188C>G (p.Arg730Gly)
c.2899C>G (p.Arg967Gly)
c.2125C>G (p.Arg709Gly)
c.2092C>G (p.Arg698Gly)
n.3126C>G
c.2305C>G (p.Arg769Gly)
n.3120C>G
 dbSNP gnomAD v2
Xg.53243418G=CA2429773372IQSEC2c.2962C= (p.Arg988=)
c.755C=
c.264C=
c.93C=
c.2803C= (p.Arg935=)
n.554C=
c.2773C= (p.Arg925=)
c.2188C= (p.Arg730=)
c.2899C= (p.Arg967=)
c.2125C= (p.Arg709=)
c.2092C= (p.Arg698=)
n.3126C=
c.2305C= (p.Arg769=)
n.3120C=
Xg.53243418G>TCA413154013IQSEC2c.2962C>A (p.Arg988Ser)
c.755C>A
c.264C>A
c.93C>A
c.2803C>A (p.Arg935Ser)
n.554C>A
c.2773C>A (p.Arg925Ser)
c.2188C>A (p.Arg730Ser)
c.2899C>A (p.Arg967Ser)
c.2125C>A (p.Arg709Ser)
c.2092C>A (p.Arg698Ser)
n.3126C>A
c.2305C>A (p.Arg769Ser)
n.3120C>A
 gnomAD v4
Xg.53243419C>ACA413154020IQSEC2c.2961G>T (p.Gln987His)
c.754G>T
c.263G>T
c.92G>T
c.2802G>T (p.Gln934His)
n.553G>T
c.2772G>T (p.Gln924His)
c.2187G>T (p.Gln729His)
c.2898G>T (p.Gln966His)
c.2124G>T (p.Gln708His)
c.2091G>T (p.Gln697His)
n.3125G>T
c.2304G>T (p.Gln768His)
n.3119G>T
 gnomAD v4
Xg.53243419C>GCA413154022IQSEC2c.2961G>C (p.Gln987His)
c.754G>C
c.263G>C
c.92G>C
c.2802G>C (p.Gln934His)
n.553G>C
c.2772G>C (p.Gln924His)
c.2187G>C (p.Gln729His)
c.2898G>C (p.Gln966His)
c.2124G>C (p.Gln708His)
c.2091G>C (p.Gln697His)
n.3125G>C
c.2304G>C (p.Gln768His)
n.3119G>C
Xg.53243419C>TCA516426407IQSEC2c.2961G>A (p.Gln987=)
c.754G>A
c.263G>A
c.92G>A
c.2802G>A (p.Gln934=)
n.553G>A
c.2772G>A (p.Gln924=)
c.2187G>A (p.Gln729=)
c.2898G>A (p.Gln966=)
c.2124G>A (p.Gln708=)
c.2091G>A (p.Gln697=)
n.3125G>A
c.2304G>A (p.Gln768=)
n.3119G>A
Xg.53243420T>ACA413154030IQSEC2c.2960A>T (p.Gln987Leu)
c.753A>T
c.262A>T
c.91A>T
c.2801A>T (p.Gln934Leu)
n.552A>T
c.2771A>T (p.Gln924Leu)
c.2186A>T (p.Gln729Leu)
c.2897A>T (p.Gln966Leu)
c.2123A>T (p.Gln708Leu)
c.2090A>T (p.Gln697Leu)
n.3124A>T
c.2303A>T (p.Gln768Leu)
n.3118A>T
 gnomAD v4
Xg.53243420T>CCA413154024IQSEC2c.2960A>G (p.Gln987Arg)
c.753A>G
c.262A>G
c.91A>G
c.2801A>G (p.Gln934Arg)
n.552A>G
c.2771A>G (p.Gln924Arg)
c.2186A>G (p.Gln729Arg)
c.2897A>G (p.Gln966Arg)
c.2123A>G (p.Gln708Arg)
c.2090A>G (p.Gln697Arg)
n.3124A>G
c.2303A>G (p.Gln768Arg)
n.3118A>G
Xg.53243420T>GCA413154027IQSEC2c.2960A>C (p.Gln987Pro)
c.753A>C
c.262A>C
c.91A>C
c.2801A>C (p.Gln934Pro)
n.552A>C
c.2771A>C (p.Gln924Pro)
c.2186A>C (p.Gln729Pro)
c.2897A>C (p.Gln966Pro)
c.2123A>C (p.Gln708Pro)
c.2090A>C (p.Gln697Pro)
n.3124A>C
c.2303A>C (p.Gln768Pro)
n.3118A>C
Xg.53243421G>ACA413154031IQSEC2c.2959C>T (p.Gln987Ter)
c.752C>T
c.261C>T
c.90C>T
c.2800C>T (p.Gln934Ter)
n.551C>T
c.2770C>T (p.Gln924Ter)
c.2185C>T (p.Gln729Ter)
c.2896C>T (p.Gln966Ter)
c.2122C>T (p.Gln708Ter)
c.2089C>T (p.Gln697Ter)
n.3123C>T
c.2302C>T (p.Gln768Ter)
n.3117C>T
Xg.53243421G>CCA413154032IQSEC2c.2959C>G (p.Gln987Glu)
c.752C>G
c.261C>G
c.90C>G
c.2800C>G (p.Gln934Glu)
n.551C>G
c.2770C>G (p.Gln924Glu)
c.2185C>G (p.Gln729Glu)
c.2896C>G (p.Gln966Glu)
c.2122C>G (p.Gln708Glu)
c.2089C>G (p.Gln697Glu)
n.3123C>G
c.2302C>G (p.Gln768Glu)
n.3117C>G
Xg.53243421G>TCA413154035IQSEC2c.2959C>A (p.Gln987Lys)
c.752C>A
c.261C>A
c.90C>A
c.2800C>A (p.Gln934Lys)
n.551C>A
c.2770C>A (p.Gln924Lys)
c.2185C>A (p.Gln729Lys)
c.2896C>A (p.Gln966Lys)
c.2122C>A (p.Gln708Lys)
c.2089C>A (p.Gln697Lys)
n.3123C>A
c.2302C>A (p.Gln768Lys)
n.3117C>A
 gnomAD v4
Xg.53243422G>ACA516426412IQSEC2c.2958C>T (p.Tyr986=)
c.751C>T
c.260C>T
c.89C>T
c.2799C>T (p.Tyr933=)
n.550C>T
c.2769C>T (p.Tyr923=)
c.2184C>T (p.Tyr728=)
c.2895C>T (p.Tyr965=)
c.2121C>T (p.Tyr707=)
c.2088C>T (p.Tyr696=)
n.3122C>T
c.2301C>T (p.Tyr767=)
n.3116C>T
Xg.53243422G>CCA413154040IQSEC2c.2958C>G (p.Tyr986Ter)
c.751C>G
c.260C>G
c.89C>G
c.2799C>G (p.Tyr933Ter)
n.550C>G
c.2769C>G (p.Tyr923Ter)
c.2184C>G (p.Tyr728Ter)
c.2895C>G (p.Tyr965Ter)
c.2121C>G (p.Tyr707Ter)
c.2088C>G (p.Tyr696Ter)
n.3122C>G
c.2301C>G (p.Tyr767Ter)
n.3116C>G
Xg.53243422G>TCA413154041IQSEC2c.2958C>A (p.Tyr986Ter)
c.751C>A
c.260C>A
c.89C>A
c.2799C>A (p.Tyr933Ter)
n.550C>A
c.2769C>A (p.Tyr923Ter)
c.2184C>A (p.Tyr728Ter)
c.2895C>A (p.Tyr965Ter)
c.2121C>A (p.Tyr707Ter)
c.2088C>A (p.Tyr696Ter)
n.3122C>A
c.2301C>A (p.Tyr767Ter)
n.3116C>A
 gnomAD v4
Xg.53243423T>ACA413154042IQSEC2c.2957A>T (p.Tyr986Phe)
c.750A>T
c.259A>T
c.88A>T
c.2798A>T (p.Tyr933Phe)
n.549A>T
c.2768A>T (p.Tyr923Phe)
c.2183A>T (p.Tyr728Phe)
c.2894A>T (p.Tyr965Phe)
c.2120A>T (p.Tyr707Phe)
c.2087A>T (p.Tyr696Phe)
n.3121A>T
c.2300A>T (p.Tyr767Phe)
n.3115A>T
Xg.53243423T>CCA413154045IQSEC2c.2957A>G (p.Tyr986Cys)
c.750A>G
c.259A>G
c.88A>G
c.2798A>G (p.Tyr933Cys)
n.549A>G
c.2768A>G (p.Tyr923Cys)
c.2183A>G (p.Tyr728Cys)
c.2894A>G (p.Tyr965Cys)
c.2120A>G (p.Tyr707Cys)
c.2087A>G (p.Tyr696Cys)
n.3121A>G
c.2300A>G (p.Tyr767Cys)
n.3115A>G
Xg.53243423T>GCA413154049IQSEC2c.2957A>C (p.Tyr986Ser)
c.750A>C
c.259A>C
c.88A>C
c.2798A>C (p.Tyr933Ser)
n.549A>C
c.2768A>C (p.Tyr923Ser)
c.2183A>C (p.Tyr728Ser)
c.2894A>C (p.Tyr965Ser)
c.2120A>C (p.Tyr707Ser)
c.2087A>C (p.Tyr696Ser)
n.3121A>C
c.2300A>C (p.Tyr767Ser)
n.3115A>C
Xg.53243424A>CCA413154055IQSEC2c.2956T>G (p.Tyr986Asp)
c.749T>G
c.258T>G
c.87T>G
c.2797T>G (p.Tyr933Asp)
n.548T>G
c.2767T>G (p.Tyr923Asp)
c.2182T>G (p.Tyr728Asp)
c.2893T>G (p.Tyr965Asp)
c.2119T>G (p.Tyr707Asp)
c.2086T>G (p.Tyr696Asp)
n.3120T>G
c.2299T>G (p.Tyr767Asp)
n.3114T>G
Xg.53243424A>GCA413154059IQSEC2c.2956T>C (p.Tyr986His)
c.749T>C
c.258T>C
c.87T>C
c.2797T>C (p.Tyr933His)
n.548T>C
c.2767T>C (p.Tyr923His)
c.2182T>C (p.Tyr728His)
c.2893T>C (p.Tyr965His)
c.2119T>C (p.Tyr707His)
c.2086T>C (p.Tyr696His)
n.3120T>C
c.2299T>C (p.Tyr767His)
n.3114T>C
Xg.53243424A>TCA413154060IQSEC2c.2956T>A (p.Tyr986Asn)
c.749T>A
c.258T>A
c.87T>A
c.2797T>A (p.Tyr933Asn)
n.548T>A
c.2767T>A (p.Tyr923Asn)
c.2182T>A (p.Tyr728Asn)
c.2893T>A (p.Tyr965Asn)
c.2119T>A (p.Tyr707Asn)
c.2086T>A (p.Tyr696Asn)
n.3120T>A
c.2299T>A (p.Tyr767Asn)
n.3114T>A
Xg.53243425G>ACA516426418IQSEC2c.2955C>T (p.Ile985=)
c.748C>T
c.257C>T
c.86C>T
c.2796C>T (p.Ile932=)
n.547C>T
c.2766C>T (p.Ile922=)
c.2181C>T (p.Ile727=)
c.2892C>T (p.Ile964=)
c.2118C>T (p.Ile706=)
c.2085C>T (p.Ile695=)
n.3119C>T
c.2298C>T (p.Ile766=)
n.3113C>T
Xg.53243425G>CCA413154061IQSEC2c.2955C>G (p.Ile985Met)
c.748C>G
c.257C>G
c.86C>G
c.2796C>G (p.Ile932Met)
n.547C>G
c.2766C>G (p.Ile922Met)
c.2181C>G (p.Ile727Met)
c.2892C>G (p.Ile964Met)
c.2118C>G (p.Ile706Met)
c.2085C>G (p.Ile695Met)
n.3119C>G
c.2298C>G (p.Ile766Met)
n.3113C>G
Xg.53243425G>TCA516426419IQSEC2c.2955C>A (p.Ile985=)
c.748C>A
c.257C>A
c.86C>A
c.2796C>A (p.Ile932=)
n.547C>A
c.2766C>A (p.Ile922=)
c.2181C>A (p.Ile727=)
c.2892C>A (p.Ile964=)
c.2118C>A (p.Ile706=)
c.2085C>A (p.Ile695=)
n.3119C>A
c.2298C>A (p.Ile766=)
n.3113C>A
 gnomAD v4
Xg.53243426A>CCA413154066IQSEC2c.2954T>G (p.Ile985Ser)
c.747T>G
c.256T>G
c.85T>G
c.2795T>G (p.Ile932Ser)
n.546T>G
c.2765T>G (p.Ile922Ser)
c.2180T>G (p.Ile727Ser)
c.2891T>G (p.Ile964Ser)
c.2117T>G (p.Ile706Ser)
c.2084T>G (p.Ile695Ser)
n.3118T>G
c.2297T>G (p.Ile766Ser)
n.3112T>G
Xg.53243426A>GCA413154076IQSEC2c.2954T>C (p.Ile985Thr)
c.747T>C
c.256T>C
c.85T>C
c.2795T>C (p.Ile932Thr)
n.546T>C
c.2765T>C (p.Ile922Thr)
c.2180T>C (p.Ile727Thr)
c.2891T>C (p.Ile964Thr)
c.2117T>C (p.Ile706Thr)
c.2084T>C (p.Ile695Thr)
n.3118T>C
c.2297T>C (p.Ile766Thr)
n.3112T>C
Xg.53243426A>TCA413154069IQSEC2c.2954T>A (p.Ile985Asn)
c.747T>A
c.256T>A
c.85T>A
c.2795T>A (p.Ile932Asn)
n.546T>A
c.2765T>A (p.Ile922Asn)
c.2180T>A (p.Ile727Asn)
c.2891T>A (p.Ile964Asn)
c.2117T>A (p.Ile706Asn)
c.2084T>A (p.Ile695Asn)
n.3118T>A
c.2297T>A (p.Ile766Asn)
n.3112T>A
Xg.53243427T>ACA413154082IQSEC2c.2953A>T (p.Ile985Phe)
c.746A>T
c.255A>T
c.84A>T
c.2794A>T (p.Ile932Phe)
n.545A>T
c.2764A>T (p.Ile922Phe)
c.2179A>T (p.Ile727Phe)
c.2890A>T (p.Ile964Phe)
c.2116A>T (p.Ile706Phe)
c.2083A>T (p.Ile695Phe)
n.3117A>T
c.2296A>T (p.Ile766Phe)
n.3111A>T
Xg.53243427T>CCA413154088IQSEC2c.2953A>G (p.Ile985Val)
c.746A>G
c.255A>G
c.84A>G
c.2794A>G (p.Ile932Val)
n.545A>G
c.2764A>G (p.Ile922Val)
c.2179A>G (p.Ile727Val)
c.2890A>G (p.Ile964Val)
c.2116A>G (p.Ile706Val)
c.2083A>G (p.Ile695Val)
n.3117A>G
c.2296A>G (p.Ile766Val)
n.3111A>G
 ClinVar
Xg.53243427T>GCA413154087IQSEC2c.2953A>C (p.Ile985Leu)
c.746A>C
c.255A>C
c.84A>C
c.2794A>C (p.Ile932Leu)
n.545A>C
c.2764A>C (p.Ile922Leu)
c.2179A>C (p.Ile727Leu)
c.2890A>C (p.Ile964Leu)
c.2116A>C (p.Ile706Leu)
c.2083A>C (p.Ile695Leu)
n.3117A>C
c.2296A>C (p.Ile766Leu)
n.3111A>C
Xg.53243428G>ACA516426424IQSEC2c.2952C>T (p.Gly984=)
c.745C>T
c.254C>T
c.83C>T
c.2793C>T (p.Gly931=)
n.544C>T
c.2763C>T (p.Gly921=)
c.2178C>T (p.Gly726=)
c.2889C>T (p.Gly963=)
c.2115C>T (p.Gly705=)
c.2082C>T (p.Gly694=)
n.3116C>T
c.2295C>T (p.Gly765=)
n.3110C>T
Xg.53243428G>CCA516426425IQSEC2c.2952C>G (p.Gly984=)
c.745C>G
c.254C>G
c.83C>G
c.2793C>G (p.Gly931=)
n.544C>G
c.2763C>G (p.Gly921=)
c.2178C>G (p.Gly726=)
c.2889C>G (p.Gly963=)
c.2115C>G (p.Gly705=)
c.2082C>G (p.Gly694=)
n.3116C>G
c.2295C>G (p.Gly765=)
n.3110C>G
Xg.53243428G>TCA516426428IQSEC2c.2952C>A (p.Gly984=)
c.745C>A
c.254C>A
c.83C>A
c.2793C>A (p.Gly931=)
n.544C>A
c.2763C>A (p.Gly921=)
c.2178C>A (p.Gly726=)
c.2889C>A (p.Gly963=)
c.2115C>A (p.Gly705=)
c.2082C>A (p.Gly694=)
n.3116C>A
c.2295C>A (p.Gly765=)
n.3110C>A
 gnomAD v4
Xg.53243429C>ACA413154091IQSEC2c.2951G>T (p.Gly984Val)
c.744G>T
c.253G>T
c.82G>T
c.2792G>T (p.Gly931Val)
n.543G>T
c.2762G>T (p.Gly921Val)
c.2177G>T (p.Gly726Val)
c.2888G>T (p.Gly963Val)
c.2114G>T (p.Gly705Val)
c.2081G>T (p.Gly694Val)
n.3115G>T
c.2294G>T (p.Gly765Val)
n.3109G>T
 gnomAD v4
Xg.53243429C=CA2429773373IQSEC2c.2951G= (p.Gly984=)
c.744G=
c.253G=
c.82G=
c.2792G= (p.Gly931=)
n.543G=
c.2762G= (p.Gly921=)
c.2177G= (p.Gly726=)
c.2888G= (p.Gly963=)
c.2114G= (p.Gly705=)
c.2081G= (p.Gly694=)
n.3115G=
c.2294G= (p.Gly765=)
n.3109G=
Xg.53243429C>GCA413154101IQSEC2c.2951G>C (p.Gly984Ala)
c.744G>C
c.253G>C
c.82G>C
c.2792G>C (p.Gly931Ala)
n.543G>C
c.2762G>C (p.Gly921Ala)
c.2177G>C (p.Gly726Ala)
c.2888G>C (p.Gly963Ala)
c.2114G>C (p.Gly705Ala)
c.2081G>C (p.Gly694Ala)
n.3115G>C
c.2294G>C (p.Gly765Ala)
n.3109G>C
Xg.53243429C>TCA413154097IQSEC2c.2951G>A (p.Gly984Asp)
c.744G>A
c.253G>A
c.82G>A
c.2792G>A (p.Gly931Asp)
n.543G>A
c.2762G>A (p.Gly921Asp)
c.2177G>A (p.Gly726Asp)
c.2888G>A (p.Gly963Asp)
c.2114G>A (p.Gly705Asp)
c.2081G>A (p.Gly694Asp)
n.3115G>A
c.2294G>A (p.Gly765Asp)
n.3109G>A
 dbSNP gnomAD v4
Xg.53243430C>ACA413154106IQSEC2c.2950G>T (p.Gly984Cys)
c.743G>T
c.252G>T
c.81G>T
c.2791G>T (p.Gly931Cys)
n.542G>T
c.2761G>T (p.Gly921Cys)
c.2176G>T (p.Gly726Cys)
c.2887G>T (p.Gly963Cys)
c.2113G>T (p.Gly705Cys)
c.2080G>T (p.Gly694Cys)
n.3114G>T
c.2293G>T (p.Gly765Cys)
n.3108G>T
 gnomAD v4
Xg.53243430C>GCA413154107IQSEC2c.2950G>C (p.Gly984Arg)
c.743G>C
c.252G>C
c.81G>C
c.2791G>C (p.Gly931Arg)
n.542G>C
c.2761G>C (p.Gly921Arg)
c.2176G>C (p.Gly726Arg)
c.2887G>C (p.Gly963Arg)
c.2113G>C (p.Gly705Arg)
c.2080G>C (p.Gly694Arg)
n.3114G>C
c.2293G>C (p.Gly765Arg)
n.3108G>C
Xg.53243430C>TCA413154108IQSEC2c.2950G>A (p.Gly984Ser)
c.743G>A
c.252G>A
c.81G>A
c.2791G>A (p.Gly931Ser)
n.542G>A
c.2761G>A (p.Gly921Ser)
c.2176G>A (p.Gly726Ser)
c.2887G>A (p.Gly963Ser)
c.2113G>A (p.Gly705Ser)
c.2080G>A (p.Gly694Ser)
n.3114G>A
c.2293G>A (p.Gly765Ser)
n.3108G>A
Xg.53243431C>ACA516426434IQSEC2c.2949G>T (p.Val983=)
c.742G>T
c.251G>T
c.80G>T
c.2790G>T (p.Val930=)
n.541G>T
c.2760G>T (p.Val920=)
c.2175G>T (p.Val725=)
c.2886G>T (p.Val962=)
c.2112G>T (p.Val704=)
c.2079G>T (p.Val693=)
n.3113G>T
c.2292G>T (p.Val764=)
n.3107G>T
 gnomAD v4
Xg.53243431C>GCA516426436IQSEC2c.2949G>C (p.Val983=)
c.742G>C
c.251G>C
c.80G>C
c.2790G>C (p.Val930=)
n.541G>C
c.2760G>C (p.Val920=)
c.2175G>C (p.Val725=)
c.2886G>C (p.Val962=)
c.2112G>C (p.Val704=)
c.2079G>C (p.Val693=)
n.3113G>C
c.2292G>C (p.Val764=)
n.3107G>C
 gnomAD v4
Xg.53243431C>TCA516426437IQSEC2c.2949G>A (p.Val983=)
c.742G>A
c.251G>A
c.80G>A
c.2790G>A (p.Val930=)
n.541G>A
c.2760G>A (p.Val920=)
c.2175G>A (p.Val725=)
c.2886G>A (p.Val962=)
c.2112G>A (p.Val704=)
c.2079G>A (p.Val693=)
n.3113G>A
c.2292G>A (p.Val764=)
n.3107G>A
 gnomAD v4
Xg.53243432A>CCA413154111IQSEC2c.2948T>G (p.Val983Gly)
c.741T>G
c.250T>G
c.79T>G
c.2789T>G (p.Val930Gly)
n.540T>G
c.2759T>G (p.Val920Gly)
c.2174T>G (p.Val725Gly)
c.2885T>G (p.Val962Gly)
c.2111T>G (p.Val704Gly)
c.2078T>G (p.Val693Gly)
n.3112T>G
c.2291T>G (p.Val764Gly)
n.3106T>G
Xg.53243432A>GCA413154118IQSEC2c.2948T>C (p.Val983Ala)
c.741T>C
c.250T>C
c.79T>C
c.2789T>C (p.Val930Ala)
n.540T>C
c.2759T>C (p.Val920Ala)
c.2174T>C (p.Val725Ala)
c.2885T>C (p.Val962Ala)
c.2111T>C (p.Val704Ala)
c.2078T>C (p.Val693Ala)
n.3112T>C
c.2291T>C (p.Val764Ala)
n.3106T>C
Xg.53243432A>TCA413154122IQSEC2c.2948T>A (p.Val983Glu)
c.741T>A
c.250T>A
c.79T>A
c.2789T>A (p.Val930Glu)
n.540T>A
c.2759T>A (p.Val920Glu)
c.2174T>A (p.Val725Glu)
c.2885T>A (p.Val962Glu)
c.2111T>A (p.Val704Glu)
c.2078T>A (p.Val693Glu)
n.3112T>A
c.2291T>A (p.Val764Glu)
n.3106T>A
 gnomAD v4
Xg.53243433C>ACA413154123IQSEC2c.2947G>T (p.Val983Leu)
c.740G>T
c.249G>T
c.78G>T
c.2788G>T (p.Val930Leu)
n.539G>T
c.2758G>T (p.Val920Leu)
c.2173G>T (p.Val725Leu)
c.2884G>T (p.Val962Leu)
c.2110G>T (p.Val704Leu)
c.2077G>T (p.Val693Leu)
n.3111G>T
c.2290G>T (p.Val764Leu)
n.3105G>T
Xg.53243433C>GCA413154124IQSEC2c.2947G>C (p.Val983Leu)
c.740G>C
c.249G>C
c.78G>C
c.2788G>C (p.Val930Leu)
n.539G>C
c.2758G>C (p.Val920Leu)
c.2173G>C (p.Val725Leu)
c.2884G>C (p.Val962Leu)
c.2110G>C (p.Val704Leu)
c.2077G>C (p.Val693Leu)
n.3111G>C
c.2290G>C (p.Val764Leu)
n.3105G>C
Xg.53243433C>TCA413154127IQSEC2c.2947G>A (p.Val983Met)
c.740G>A
c.249G>A
c.78G>A
c.2788G>A (p.Val930Met)
n.539G>A
c.2758G>A (p.Val920Met)
c.2173G>A (p.Val725Met)
c.2884G>A (p.Val962Met)
c.2110G>A (p.Val704Met)
c.2077G>A (p.Val693Met)
n.3111G>A
c.2290G>A (p.Val764Met)
n.3105G>A
 gnomAD v4
Xg.53243434C>ACA516426447IQSEC2c.2946G>T (p.Leu982=)
c.739G>T
c.248G>T
c.77G>T
c.2787G>T (p.Leu929=)
n.538G>T
c.2757G>T (p.Leu919=)
c.2172G>T (p.Leu724=)
c.2883G>T (p.Leu961=)
c.2109G>T (p.Leu703=)
c.2076G>T (p.Leu692=)
n.3110G>T
c.2289G>T (p.Leu763=)
n.3104G>T
 gnomAD v4
Xg.53243434C>GCA516426448IQSEC2c.2946G>C (p.Leu982=)
c.739G>C
c.248G>C
c.77G>C
c.2787G>C (p.Leu929=)
n.538G>C
c.2757G>C (p.Leu919=)
c.2172G>C (p.Leu724=)
c.2883G>C (p.Leu961=)
c.2109G>C (p.Leu703=)
c.2076G>C (p.Leu692=)
n.3110G>C
c.2289G>C (p.Leu763=)
n.3104G>C
Xg.53243434C>TCA516426446IQSEC2c.2946G>A (p.Leu982=)
c.739G>A
c.248G>A
c.77G>A
c.2787G>A (p.Leu929=)
n.538G>A
c.2757G>A (p.Leu919=)
c.2172G>A (p.Leu724=)
c.2883G>A (p.Leu961=)
c.2109G>A (p.Leu703=)
c.2076G>A (p.Leu692=)
n.3110G>A
c.2289G>A (p.Leu763=)
n.3104G>A
 gnomAD v4
Xg.53243434_53243437delinsCAGGCA2429773374IQSEC2c.2943_2946delinsCCTG (p.Leu981=)
c.736_739delinsCCTG
c.245_248delinsCCTG
c.74_77delinsCCTG
c.2784_2787delinsCCTG (p.Leu928=)
n.535_538delinsCCTG
c.2754_2757delinsCCTG (p.Leu918=)
c.2169_2172delinsCCTG (p.Leu723=)
c.2880_2883delinsCCTG (p.Leu960=)
c.2106_2109delinsCCTG (p.Leu702=)
c.2073_2076delinsCCTG (p.Leu691=)
n.3107_3110delinsCCTG
c.2286_2289delinsCCTG (p.Leu762=)
n.3101_3104delinsCCTG
Xg.53243435A>CCA413154134IQSEC2c.2945T>G (p.Leu982Arg)
c.738T>G
c.247T>G
c.76T>G
c.2786T>G (p.Leu929Arg)
n.537T>G
c.2756T>G (p.Leu919Arg)
c.2171T>G (p.Leu724Arg)
c.2882T>G (p.Leu961Arg)
c.2108T>G (p.Leu703Arg)
c.2075T>G (p.Leu692Arg)
n.3109T>G
c.2288T>G (p.Leu763Arg)
n.3103T>G
Xg.53243435A>GCA413154137IQSEC2c.2945T>C (p.Leu982Pro)
c.738T>C
c.247T>C
c.76T>C
c.2786T>C (p.Leu929Pro)
n.537T>C
c.2756T>C (p.Leu919Pro)
c.2171T>C (p.Leu724Pro)
c.2882T>C (p.Leu961Pro)
c.2108T>C (p.Leu703Pro)
c.2075T>C (p.Leu692Pro)
n.3109T>C
c.2288T>C (p.Leu763Pro)
n.3103T>C
Xg.53243435A>TCA413154142IQSEC2c.2945T>A (p.Leu982Gln)
c.738T>A
c.247T>A
c.76T>A
c.2786T>A (p.Leu929Gln)
n.537T>A
c.2756T>A (p.Leu919Gln)
c.2171T>A (p.Leu724Gln)
c.2882T>A (p.Leu961Gln)
c.2108T>A (p.Leu703Gln)
c.2075T>A (p.Leu692Gln)
n.3109T>A
c.2288T>A (p.Leu763Gln)
n.3103T>A
Xg.53243438_53243440delCA915951126IQSEC2c.2943_2945del (p.Leu982del)
c.736_738del
c.245_247del
c.74_76del
c.2784_2786del (p.Leu929del)
n.535_537del
c.2754_2756del (p.Leu919del)
c.2169_2171del (p.Leu724del)
c.2880_2882del (p.Leu961del)
c.2106_2108del (p.Leu703del)
c.2073_2075del (p.Leu692del)
n.3107_3109del
c.2286_2288del (p.Leu763del)
n.3101_3103del
 ClinVar dbSNP
Xg.53243436G>ACA516426450IQSEC2c.2944C>T (p.Leu982=)
c.737C>T
c.246C>T
c.75C>T
c.2785C>T (p.Leu929=)
n.536C>T
c.2755C>T (p.Leu919=)
c.2170C>T (p.Leu724=)
c.2881C>T (p.Leu961=)
c.2107C>T (p.Leu703=)
c.2074C>T (p.Leu692=)
n.3108C>T
c.2287C>T (p.Leu763=)
n.3102C>T
 gnomAD v4
Xg.53243436G>CCA413154146IQSEC2c.2944C>G (p.Leu982Val)
c.737C>G
c.246C>G
c.75C>G
c.2785C>G (p.Leu929Val)
n.536C>G
c.2755C>G (p.Leu919Val)
c.2170C>G (p.Leu724Val)
c.2881C>G (p.Leu961Val)
c.2107C>G (p.Leu703Val)
c.2074C>G (p.Leu692Val)
n.3108C>G
c.2287C>G (p.Leu763Val)
n.3102C>G
Xg.53243436G>TCA413154150IQSEC2c.2944C>A (p.Leu982Met)
c.737C>A
c.246C>A
c.75C>A
c.2785C>A (p.Leu929Met)
n.536C>A
c.2755C>A (p.Leu919Met)
c.2170C>A (p.Leu724Met)
c.2881C>A (p.Leu961Met)
c.2107C>A (p.Leu703Met)
c.2074C>A (p.Leu692Met)
n.3108C>A
c.2287C>A (p.Leu763Met)
n.3102C>A
 gnomAD v4
Xg.53243437G>ACA516426454IQSEC2c.2943C>T (p.Leu981=)
c.736C>T
c.245C>T
c.74C>T
c.2784C>T (p.Leu928=)
n.535C>T
c.2754C>T (p.Leu918=)
c.2169C>T (p.Leu723=)
c.2880C>T (p.Leu960=)
c.2106C>T (p.Leu702=)
c.2073C>T (p.Leu691=)
n.3107C>T
c.2286C>T (p.Leu762=)
n.3101C>T
 gnomAD v4
Xg.53243437G>CCA329164412IQSEC2c.2943C>G (p.Leu981=)
c.736C>G
c.245C>G
c.74C>G
c.2784C>G (p.Leu928=)
n.535C>G
c.2754C>G (p.Leu918=)
c.2169C>G (p.Leu723=)
c.2880C>G (p.Leu960=)
c.2106C>G (p.Leu702=)
c.2073C>G (p.Leu691=)
n.3107C>G
c.2286C>G (p.Leu762=)
n.3101C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53243437G=CA2429773375IQSEC2c.2943C= (p.Leu981=)
c.736C=
c.245C=
c.74C=
c.2784C= (p.Leu928=)
n.535C=
c.2754C= (p.Leu918=)
c.2169C= (p.Leu723=)
c.2880C= (p.Leu960=)
c.2106C= (p.Leu702=)
c.2073C= (p.Leu691=)
n.3107C=
c.2286C= (p.Leu762=)
n.3101C=
Xg.53243437G>TCA516426455IQSEC2c.2943C>A (p.Leu981=)
c.736C>A
c.245C>A
c.74C>A
c.2784C>A (p.Leu928=)
n.535C>A
c.2754C>A (p.Leu918=)
c.2169C>A (p.Leu723=)
c.2880C>A (p.Leu960=)
c.2106C>A (p.Leu702=)
c.2073C>A (p.Leu691=)
n.3107C>A
c.2286C>A (p.Leu762=)
n.3101C>A
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53243438A>CCA413154166IQSEC2c.2942T>G (p.Leu981Arg)
c.735T>G
c.244T>G
c.73T>G
c.2783T>G (p.Leu928Arg)
n.534T>G
c.2753T>G (p.Leu918Arg)
c.2168T>G (p.Leu723Arg)
c.2879T>G (p.Leu960Arg)
c.2105T>G (p.Leu702Arg)
c.2072T>G (p.Leu691Arg)
n.3106T>G
c.2285T>G (p.Leu762Arg)
n.3100T>G
Xg.53243438A>GCA413154169IQSEC2c.2942T>C (p.Leu981Pro)
c.735T>C
c.244T>C
c.73T>C
c.2783T>C (p.Leu928Pro)
n.534T>C
c.2753T>C (p.Leu918Pro)
c.2168T>C (p.Leu723Pro)
c.2879T>C (p.Leu960Pro)
c.2105T>C (p.Leu702Pro)
c.2072T>C (p.Leu691Pro)
n.3106T>C
c.2285T>C (p.Leu762Pro)
n.3100T>C
 gnomAD v4
Xg.53243438A>TCA413154173IQSEC2c.2942T>A (p.Leu981His)
c.735T>A
c.244T>A
c.73T>A
c.2783T>A (p.Leu928His)
n.534T>A
c.2753T>A (p.Leu918His)
c.2168T>A (p.Leu723His)
c.2879T>A (p.Leu960His)
c.2105T>A (p.Leu702His)
c.2072T>A (p.Leu691His)
n.3106T>A
c.2285T>A (p.Leu762His)
n.3100T>A
Xg.53243439G>ACA413154181IQSEC2c.2941C>T (p.Leu981Phe)
c.734C>T
c.243C>T
c.72C>T
c.2782C>T (p.Leu928Phe)
n.533C>T
c.2752C>T (p.Leu918Phe)
c.2167C>T (p.Leu723Phe)
c.2878C>T (p.Leu960Phe)
c.2104C>T (p.Leu702Phe)
c.2071C>T (p.Leu691Phe)
n.3105C>T
c.2284C>T (p.Leu762Phe)
n.3099C>T
 gnomAD v4
Xg.53243439G>CCA413154198IQSEC2c.2941C>G (p.Leu981Val)
c.734C>G
c.243C>G
c.72C>G
c.2782C>G (p.Leu928Val)
n.533C>G
c.2752C>G (p.Leu918Val)
c.2167C>G (p.Leu723Val)
c.2878C>G (p.Leu960Val)
c.2104C>G (p.Leu702Val)
c.2071C>G (p.Leu691Val)
n.3105C>G
c.2284C>G (p.Leu762Val)
n.3099C>G
Xg.53243439G>TCA413154213IQSEC2c.2941C>A (p.Leu981Ile)
c.734C>A
c.243C>A
c.72C>A
c.2782C>A (p.Leu928Ile)
n.533C>A
c.2752C>A (p.Leu918Ile)
c.2167C>A (p.Leu723Ile)
c.2878C>A (p.Leu960Ile)
c.2104C>A (p.Leu702Ile)
c.2071C>A (p.Leu691Ile)
n.3105C>A
c.2284C>A (p.Leu762Ile)
n.3099C>A
Xg.53243440G>ACA329164415IQSEC2c.2940C>T (p.Asp980=)
c.733C>T
c.242C>T
c.71C>T
c.2781C>T (p.Asp927=)
n.532C>T
c.2751C>T (p.Asp917=)
c.2166C>T (p.Asp722=)
c.2877C>T (p.Asp959=)
c.2103C>T (p.Asp701=)
c.2070C>T (p.Asp690=)
n.3104C>T
c.2283C>T (p.Asp761=)
n.3098C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243440G>CCA413154226IQSEC2c.2940C>G (p.Asp980Glu)
c.733C>G
c.242C>G
c.71C>G
c.2781C>G (p.Asp927Glu)
n.532C>G
c.2751C>G (p.Asp917Glu)
c.2166C>G (p.Asp722Glu)
c.2877C>G (p.Asp959Glu)
c.2103C>G (p.Asp701Glu)
c.2070C>G (p.Asp690Glu)
n.3104C>G
c.2283C>G (p.Asp761Glu)
n.3098C>G
Xg.53243440G=CA2429773376IQSEC2c.2940C= (p.Asp980=)
c.733C=
c.242C=
c.71C=
c.2781C= (p.Asp927=)
n.532C=
c.2751C= (p.Asp917=)
c.2166C= (p.Asp722=)
c.2877C= (p.Asp959=)
c.2103C= (p.Asp701=)
c.2070C= (p.Asp690=)
n.3104C=
c.2283C= (p.Asp761=)
n.3098C=
Xg.53243440G>TCA413154230IQSEC2c.2940C>A (p.Asp980Glu)
c.733C>A
c.242C>A
c.71C>A
c.2781C>A (p.Asp927Glu)
n.532C>A
c.2751C>A (p.Asp917Glu)
c.2166C>A (p.Asp722Glu)
c.2877C>A (p.Asp959Glu)
c.2103C>A (p.Asp701Glu)
c.2070C>A (p.Asp690Glu)
n.3104C>A
c.2283C>A (p.Asp761Glu)
n.3098C>A
 gnomAD v4
Xg.53243441T>ACA413154240IQSEC2c.2939A>T (p.Asp980Val)
c.732A>T
c.241A>T
c.70A>T
c.2780A>T (p.Asp927Val)
n.531A>T
c.2750A>T (p.Asp917Val)
c.2165A>T (p.Asp722Val)
c.2876A>T (p.Asp959Val)
c.2102A>T (p.Asp701Val)
c.2069A>T (p.Asp690Val)
n.3103A>T
c.2282A>T (p.Asp761Val)
n.3097A>T
Xg.53243441T>CCA413154245IQSEC2c.2939A>G (p.Asp980Gly)
c.732A>G
c.241A>G
c.70A>G
c.2780A>G (p.Asp927Gly)
n.531A>G
c.2750A>G (p.Asp917Gly)
c.2165A>G (p.Asp722Gly)
c.2876A>G (p.Asp959Gly)
c.2102A>G (p.Asp701Gly)
c.2069A>G (p.Asp690Gly)
n.3103A>G
c.2282A>G (p.Asp761Gly)
n.3097A>G
Xg.53243441T>GCA413154238IQSEC2c.2939A>C (p.Asp980Ala)
c.732A>C
c.241A>C
c.70A>C
c.2780A>C (p.Asp927Ala)
n.531A>C
c.2750A>C (p.Asp917Ala)
c.2165A>C (p.Asp722Ala)
c.2876A>C (p.Asp959Ala)
c.2102A>C (p.Asp701Ala)
c.2069A>C (p.Asp690Ala)
n.3103A>C
c.2282A>C (p.Asp761Ala)
n.3097A>C
Xg.53243442C>ACA413154250IQSEC2c.2938G>T (p.Asp980Tyr)
c.731G>T
c.240G>T
c.69G>T
c.2779G>T (p.Asp927Tyr)
n.530G>T
c.2749G>T (p.Asp917Tyr)
c.2164G>T (p.Asp722Tyr)
c.2875G>T (p.Asp959Tyr)
c.2101G>T (p.Asp701Tyr)
c.2068G>T (p.Asp690Tyr)
n.3102G>T
c.2281G>T (p.Asp761Tyr)
n.3096G>T
 gnomAD v4
Xg.53243442C>GCA413154253IQSEC2c.2938G>C (p.Asp980His)
c.731G>C
c.240G>C
c.69G>C
c.2779G>C (p.Asp927His)
n.530G>C
c.2749G>C (p.Asp917His)
c.2164G>C (p.Asp722His)
c.2875G>C (p.Asp959His)
c.2101G>C (p.Asp701His)
c.2068G>C (p.Asp690His)
n.3102G>C
c.2281G>C (p.Asp761His)
n.3096G>C
Xg.53243442C>TCA413154257IQSEC2c.2938G>A (p.Asp980Asn)
c.731G>A
c.240G>A
c.69G>A
c.2779G>A (p.Asp927Asn)
n.530G>A
c.2749G>A (p.Asp917Asn)
c.2164G>A (p.Asp722Asn)
c.2875G>A (p.Asp959Asn)
c.2101G>A (p.Asp701Asn)
c.2068G>A (p.Asp690Asn)
n.3102G>A
c.2281G>A (p.Asp761Asn)
n.3096G>A
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53243443T>ACA516426469IQSEC2c.2937A>T (p.Arg979=)
c.730A>T
c.239A>T
c.68A>T
c.2778A>T (p.Arg926=)
n.529A>T
c.2748A>T (p.Arg916=)
c.2163A>T (p.Arg721=)
c.2874A>T (p.Arg958=)
c.2100A>T (p.Arg700=)
c.2067A>T (p.Arg689=)
n.3101A>T
c.2280A>T (p.Arg760=)
n.3095A>T
 gnomAD v4
Xg.53243443T>CCA516426470IQSEC2c.2937A>G (p.Arg979=)
c.730A>G
c.239A>G
c.68A>G
c.2778A>G (p.Arg926=)
n.529A>G
c.2748A>G (p.Arg916=)
c.2163A>G (p.Arg721=)
c.2874A>G (p.Arg958=)
c.2100A>G (p.Arg700=)
c.2067A>G (p.Arg689=)
n.3101A>G
c.2280A>G (p.Arg760=)
n.3095A>G
Xg.53243443T>GCA516426473IQSEC2c.2937A>C (p.Arg979=)
c.730A>C
c.239A>C
c.68A>C
c.2778A>C (p.Arg926=)
n.529A>C
c.2748A>C (p.Arg916=)
c.2163A>C (p.Arg721=)
c.2874A>C (p.Arg958=)
c.2100A>C (p.Arg700=)
c.2067A>C (p.Arg689=)
n.3101A>C
c.2280A>C (p.Arg760=)
n.3095A>C
Xg.53243444C>ACA413154260IQSEC2c.2936G>T (p.Arg979Leu)
c.729G>T
c.238G>T
c.67G>T
c.2777G>T (p.Arg926Leu)
n.528G>T
c.2747G>T (p.Arg916Leu)
c.2162G>T (p.Arg721Leu)
c.2873G>T (p.Arg958Leu)
c.2099G>T (p.Arg700Leu)
c.2066G>T (p.Arg689Leu)
n.3100G>T
c.2279G>T (p.Arg760Leu)
n.3094G>T
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53243444C=CA2429773377IQSEC2c.2936G= (p.Arg979=)
c.729G=
c.238G=
c.67G=
c.2777G= (p.Arg926=)
n.528G=
c.2747G= (p.Arg916=)
c.2162G= (p.Arg721=)
c.2873G= (p.Arg958=)
c.2099G= (p.Arg700=)
c.2066G= (p.Arg689=)
n.3100G=
c.2279G= (p.Arg760=)
n.3094G=
Xg.53243444C>GCA413154268IQSEC2c.2936G>C (p.Arg979Pro)
c.729G>C
c.238G>C
c.67G>C
c.2777G>C (p.Arg926Pro)
n.528G>C
c.2747G>C (p.Arg916Pro)
c.2162G>C (p.Arg721Pro)
c.2873G>C (p.Arg958Pro)
c.2099G>C (p.Arg700Pro)
c.2066G>C (p.Arg689Pro)
n.3100G>C
c.2279G>C (p.Arg760Pro)
n.3094G>C
Xg.53243444C>TCA413154271IQSEC2c.2936G>A (p.Arg979Gln)
c.729G>A
c.238G>A
c.67G>A
c.2777G>A (p.Arg926Gln)
n.528G>A
c.2747G>A (p.Arg916Gln)
c.2162G>A (p.Arg721Gln)
c.2873G>A (p.Arg958Gln)
c.2099G>A (p.Arg700Gln)
c.2066G>A (p.Arg689Gln)
n.3100G>A
c.2279G>A (p.Arg760Gln)
n.3094G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53243445G>ACA16608946IQSEC2c.2935C>T (p.Arg979Ter)
c.728C>T
c.237C>T
c.66C>T
c.2776C>T (p.Arg926Ter)
n.527C>T
c.2746C>T (p.Arg916Ter)
c.2161C>T (p.Arg721Ter)
c.2872C>T (p.Arg958Ter)
c.2098C>T (p.Arg700Ter)
c.2065C>T (p.Arg689Ter)
n.3099C>T
c.2278C>T (p.Arg760Ter)
n.3093C>T
 ClinVar dbSNP gnomAD v4
Xg.53243445G>CCA413154282IQSEC2c.2935C>G (p.Arg979Gly)
c.728C>G
c.237C>G
c.66C>G
c.2776C>G (p.Arg926Gly)
n.527C>G
c.2746C>G (p.Arg916Gly)
c.2161C>G (p.Arg721Gly)
c.2872C>G (p.Arg958Gly)
c.2098C>G (p.Arg700Gly)
c.2065C>G (p.Arg689Gly)
n.3099C>G
c.2278C>G (p.Arg760Gly)
n.3093C>G
Xg.53243445G=CA2429773378IQSEC2c.2935C= (p.Arg979=)
c.728C=
c.237C=
c.66C=
c.2776C= (p.Arg926=)
n.527C=
c.2746C= (p.Arg916=)
c.2161C= (p.Arg721=)
c.2872C= (p.Arg958=)
c.2098C= (p.Arg700=)
c.2065C= (p.Arg689=)
n.3099C=
c.2278C= (p.Arg760=)
n.3093C=
Xg.53243445G>TCA516426479IQSEC2c.2935C>A (p.Arg979=)
c.728C>A
c.237C>A
c.66C>A
c.2776C>A (p.Arg926=)
n.527C>A
c.2746C>A (p.Arg916=)
c.2161C>A (p.Arg721=)
c.2872C>A (p.Arg958=)
c.2098C>A (p.Arg700=)
c.2065C>A (p.Arg689=)
n.3099C>A
c.2278C>A (p.Arg760=)
n.3093C>A
 gnomAD v4
Xg.53243446G>ACA10419890IQSEC2c.2934C>T (p.Pro978=)
c.727C>T
c.236C>T
c.65C>T
c.2775C>T (p.Pro925=)
n.526C>T
c.2745C>T (p.Pro915=)
c.2160C>T (p.Pro720=)
c.2871C>T (p.Pro957=)
c.2097C>T (p.Pro699=)
c.2064C>T (p.Pro688=)
n.3098C>T
c.2277C>T (p.Pro759=)
n.3092C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53243446G>CCA516426482IQSEC2c.2934C>G (p.Pro978=)
c.727C>G
c.236C>G
c.65C>G
c.2775C>G (p.Pro925=)
n.526C>G
c.2745C>G (p.Pro915=)
c.2160C>G (p.Pro720=)
c.2871C>G (p.Pro957=)
c.2097C>G (p.Pro699=)
c.2064C>G (p.Pro688=)
n.3098C>G
c.2277C>G (p.Pro759=)
n.3092C>G
Xg.53243446G=CA2429773379IQSEC2c.2934C= (p.Pro978=)
c.727C=
c.236C=
c.65C=
c.2775C= (p.Pro925=)
n.526C=
c.2745C= (p.Pro915=)
c.2160C= (p.Pro720=)
c.2871C= (p.Pro957=)
c.2097C= (p.Pro699=)
c.2064C= (p.Pro688=)
n.3098C=
c.2277C= (p.Pro759=)
n.3092C=
Xg.53243446G>TCA516426481IQSEC2c.2934C>A (p.Pro978=)
c.727C>A
c.236C>A
c.65C>A
c.2775C>A (p.Pro925=)
n.526C>A
c.2745C>A (p.Pro915=)
c.2160C>A (p.Pro720=)
c.2871C>A (p.Pro957=)
c.2097C>A (p.Pro699=)
c.2064C>A (p.Pro688=)
n.3098C>A
c.2277C>A (p.Pro759=)
n.3092C>A
 gnomAD v4
Xg.53243447G>ACA413154291IQSEC2c.2933C>T (p.Pro978Leu)
c.726C>T
c.235C>T
c.64C>T
c.2774C>T (p.Pro925Leu)
n.525C>T
c.2744C>T (p.Pro915Leu)
c.2159C>T (p.Pro720Leu)
c.2870C>T (p.Pro957Leu)
c.2096C>T (p.Pro699Leu)
c.2063C>T (p.Pro688Leu)
n.3097C>T
c.2276C>T (p.Pro759Leu)
n.3091C>T
Xg.53243447G>CCA413154294IQSEC2c.2933C>G (p.Pro978Arg)
c.726C>G
c.235C>G
c.64C>G
c.2774C>G (p.Pro925Arg)
n.525C>G
c.2744C>G (p.Pro915Arg)
c.2159C>G (p.Pro720Arg)
c.2870C>G (p.Pro957Arg)
c.2096C>G (p.Pro699Arg)
c.2063C>G (p.Pro688Arg)
n.3097C>G
c.2276C>G (p.Pro759Arg)
n.3091C>G
Xg.53243447G>TCA413154298IQSEC2c.2933C>A (p.Pro978His)
c.726C>A
c.235C>A
c.64C>A
c.2774C>A (p.Pro925His)
n.525C>A
c.2744C>A (p.Pro915His)
c.2159C>A (p.Pro720His)
c.2870C>A (p.Pro957His)
c.2096C>A (p.Pro699His)
c.2063C>A (p.Pro688His)
n.3097C>A
c.2276C>A (p.Pro759His)
n.3091C>A
 gnomAD v4
Xg.53243448G>ACA413154305IQSEC2c.2932C>T (p.Pro978Ser)
c.725C>T
c.234C>T
c.63C>T
c.2773C>T (p.Pro925Ser)
n.524C>T
c.2743C>T (p.Pro915Ser)
c.2158C>T (p.Pro720Ser)
c.2869C>T (p.Pro957Ser)
c.2095C>T (p.Pro699Ser)
c.2062C>T (p.Pro688Ser)
n.3096C>T
c.2275C>T (p.Pro759Ser)
n.3090C>T
 dbSNP gnomAD v2
Xg.53243448G>CCA413154309IQSEC2c.2932C>G (p.Pro978Ala)
c.725C>G
c.234C>G
c.63C>G
c.2773C>G (p.Pro925Ala)
n.524C>G
c.2743C>G (p.Pro915Ala)
c.2158C>G (p.Pro720Ala)
c.2869C>G (p.Pro957Ala)
c.2095C>G (p.Pro699Ala)
c.2062C>G (p.Pro688Ala)
n.3096C>G
c.2275C>G (p.Pro759Ala)
n.3090C>G
Xg.53243448G=CA2429773380IQSEC2c.2932C= (p.Pro978=)
c.725C=
c.234C=
c.63C=
c.2773C= (p.Pro925=)
n.524C=
c.2743C= (p.Pro915=)
c.2158C= (p.Pro720=)
c.2869C= (p.Pro957=)
c.2095C= (p.Pro699=)
c.2062C= (p.Pro688=)
n.3096C=
c.2275C= (p.Pro759=)
n.3090C=
Xg.53243448G>TCA413154302IQSEC2c.2932C>A (p.Pro978Thr)
c.725C>A
c.234C>A
c.63C>A
c.2773C>A (p.Pro925Thr)
n.524C>A
c.2743C>A (p.Pro915Thr)
c.2158C>A (p.Pro720Thr)
c.2869C>A (p.Pro957Thr)
c.2095C>A (p.Pro699Thr)
c.2062C>A (p.Pro688Thr)
n.3096C>A
c.2275C>A (p.Pro759Thr)
n.3090C>A
 gnomAD v4
Xg.53243449G>ACA10419891IQSEC2c.2931C>T (p.Ile977=)
c.724C>T
c.233C>T
c.62C>T
c.2772C>T (p.Ile924=)
n.523C>T
c.2742C>T (p.Ile914=)
c.2157C>T (p.Ile719=)
c.2868C>T (p.Ile956=)
c.2094C>T (p.Ile698=)
c.2061C>T (p.Ile687=)
n.3095C>T
c.2274C>T (p.Ile758=)
n.3089C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53243449G>CCA413154318IQSEC2c.2931C>G (p.Ile977Met)
c.724C>G
c.233C>G
c.62C>G
c.2772C>G (p.Ile924Met)
n.523C>G
c.2742C>G (p.Ile914Met)
c.2157C>G (p.Ile719Met)
c.2868C>G (p.Ile956Met)
c.2094C>G (p.Ile698Met)
c.2061C>G (p.Ile687Met)
n.3095C>G
c.2274C>G (p.Ile758Met)
n.3089C>G
Xg.53243449G=CA2429773381IQSEC2c.2931C= (p.Ile977=)
c.724C=
c.233C=
c.62C=
c.2772C= (p.Ile924=)
n.523C=
c.2742C= (p.Ile914=)
c.2157C= (p.Ile719=)
c.2868C= (p.Ile956=)
c.2094C= (p.Ile698=)
c.2061C= (p.Ile687=)
n.3095C=
c.2274C= (p.Ile758=)
n.3089C=
Xg.53243449G>TCA516426489IQSEC2c.2931C>A (p.Ile977=)
c.724C>A
c.233C>A
c.62C>A
c.2772C>A (p.Ile924=)
n.523C>A
c.2742C>A (p.Ile914=)
c.2157C>A (p.Ile719=)
c.2868C>A (p.Ile956=)
c.2094C>A (p.Ile698=)
c.2061C>A (p.Ile687=)
n.3095C>A
c.2274C>A (p.Ile758=)
n.3089C>A
 dbSNP gnomAD v4
Xg.53243450A>CCA413154324IQSEC2c.2930T>G (p.Ile977Ser)
c.723T>G
c.232T>G
c.61T>G
c.2771T>G (p.Ile924Ser)
n.522T>G
c.2741T>G (p.Ile914Ser)
c.2156T>G (p.Ile719Ser)
c.2867T>G (p.Ile956Ser)
c.2093T>G (p.Ile698Ser)
c.2060T>G (p.Ile687Ser)
n.3094T>G
c.2273T>G (p.Ile758Ser)
n.3088T>G
Xg.53243450A>GCA413154327IQSEC2c.2930T>C (p.Ile977Thr)
c.723T>C
c.232T>C
c.61T>C
c.2771T>C (p.Ile924Thr)
n.522T>C
c.2741T>C (p.Ile914Thr)
c.2156T>C (p.Ile719Thr)
c.2867T>C (p.Ile956Thr)
c.2093T>C (p.Ile698Thr)
c.2060T>C (p.Ile687Thr)
n.3094T>C
c.2273T>C (p.Ile758Thr)
n.3088T>C
 gnomAD v4
Xg.53243450A>TCA413154331IQSEC2c.2930T>A (p.Ile977Asn)
c.723T>A
c.232T>A
c.61T>A
c.2771T>A (p.Ile924Asn)
n.522T>A
c.2741T>A (p.Ile914Asn)
c.2156T>A (p.Ile719Asn)
c.2867T>A (p.Ile956Asn)
c.2093T>A (p.Ile698Asn)
c.2060T>A (p.Ile687Asn)
n.3094T>A
c.2273T>A (p.Ile758Asn)
n.3088T>A
Xg.53243451T>ACA413154346IQSEC2c.2929A>T (p.Ile977Phe)
c.722A>T
c.231A>T
c.60A>T
c.2770A>T (p.Ile924Phe)
n.521A>T
c.2740A>T (p.Ile914Phe)
c.2155A>T (p.Ile719Phe)
c.2866A>T (p.Ile956Phe)
c.2092A>T (p.Ile698Phe)
c.2059A>T (p.Ile687Phe)
n.3093A>T
c.2272A>T (p.Ile758Phe)
n.3087A>T
Xg.53243451T>CCA413154339IQSEC2c.2929A>G (p.Ile977Val)
c.722A>G
c.231A>G
c.60A>G
c.2770A>G (p.Ile924Val)
n.521A>G
c.2740A>G (p.Ile914Val)
c.2155A>G (p.Ile719Val)
c.2866A>G (p.Ile956Val)
c.2092A>G (p.Ile698Val)
c.2059A>G (p.Ile687Val)
n.3093A>G
c.2272A>G (p.Ile758Val)
n.3087A>G
 ClinVar dbSNP gnomAD v4
Xg.53243451T>GCA413154344IQSEC2c.2929A>C (p.Ile977Leu)
c.722A>C
c.231A>C
c.60A>C
c.2770A>C (p.Ile924Leu)
n.521A>C
c.2740A>C (p.Ile914Leu)
c.2155A>C (p.Ile719Leu)
c.2866A>C (p.Ile956Leu)
c.2092A>C (p.Ile698Leu)
c.2059A>C (p.Ile687Leu)
n.3093A>C
c.2272A>C (p.Ile758Leu)
n.3087A>C
Xg.53243452G>ACA516426494IQSEC2c.2928C>T (p.Asp976=)
c.721C>T
c.230C>T
c.59C>T
c.2769C>T (p.Asp923=)
n.520C>T
c.2739C>T (p.Asp913=)
c.2154C>T (p.Asp718=)
c.2865C>T (p.Asp955=)
c.2091C>T (p.Asp697=)
c.2058C>T (p.Asp686=)
n.3092C>T
c.2271C>T (p.Asp757=)
n.3086C>T
 gnomAD v4
Xg.53243452G>CCA413154349IQSEC2c.2928C>G (p.Asp976Glu)
c.721C>G
c.230C>G
c.59C>G
c.2769C>G (p.Asp923Glu)
n.520C>G
c.2739C>G (p.Asp913Glu)
c.2154C>G (p.Asp718Glu)
c.2865C>G (p.Asp955Glu)
c.2091C>G (p.Asp697Glu)
c.2058C>G (p.Asp686Glu)
n.3092C>G
c.2271C>G (p.Asp757Glu)
n.3086C>G
Xg.53243452G>TCA413154352IQSEC2c.2928C>A (p.Asp976Glu)
c.721C>A
c.230C>A
c.59C>A
c.2769C>A (p.Asp923Glu)
n.520C>A
c.2739C>A (p.Asp913Glu)
c.2154C>A (p.Asp718Glu)
c.2865C>A (p.Asp955Glu)
c.2091C>A (p.Asp697Glu)
c.2058C>A (p.Asp686Glu)
n.3092C>A
c.2271C>A (p.Asp757Glu)
n.3086C>A
 gnomAD v4
Xg.53243453T>ACA413154358IQSEC2c.2927A>T (p.Asp976Val)
c.720A>T
c.229A>T
c.58A>T
c.2768A>T (p.Asp923Val)
n.519A>T
c.2738A>T (p.Asp913Val)
c.2153A>T (p.Asp718Val)
c.2864A>T (p.Asp955Val)
c.2090A>T (p.Asp697Val)
c.2057A>T (p.Asp686Val)
n.3091A>T
c.2270A>T (p.Asp757Val)
n.3085A>T
 gnomAD v4
Xg.53243453T>CCA413154361IQSEC2c.2927A>G (p.Asp976Gly)
c.720A>G
c.229A>G
c.58A>G
c.2768A>G (p.Asp923Gly)
n.519A>G
c.2738A>G (p.Asp913Gly)
c.2153A>G (p.Asp718Gly)
c.2864A>G (p.Asp955Gly)
c.2090A>G (p.Asp697Gly)
c.2057A>G (p.Asp686Gly)
n.3091A>G
c.2270A>G (p.Asp757Gly)
n.3085A>G
 gnomAD v4
Xg.53243453T>GCA413154364IQSEC2c.2927A>C (p.Asp976Ala)
c.720A>C
c.229A>C
c.58A>C
c.2768A>C (p.Asp923Ala)
n.519A>C
c.2738A>C (p.Asp913Ala)
c.2153A>C (p.Asp718Ala)
c.2864A>C (p.Asp955Ala)
c.2090A>C (p.Asp697Ala)
c.2057A>C (p.Asp686Ala)
n.3091A>C
c.2270A>C (p.Asp757Ala)
n.3085A>C
 COSMIC COSMIC COSMIC
Xg.53243454C>ACA413154374IQSEC2c.2926G>T (p.Asp976Tyr)
c.719G>T
c.228G>T
c.57G>T
c.2767G>T (p.Asp923Tyr)
n.518G>T
c.2737G>T (p.Asp913Tyr)
c.2152G>T (p.Asp718Tyr)
c.2863G>T (p.Asp955Tyr)
c.2089G>T (p.Asp697Tyr)
c.2056G>T (p.Asp686Tyr)
n.3090G>T
c.2269G>T (p.Asp757Tyr)
n.3084G>T
 gnomAD v4
Xg.53243454C>GCA413154372IQSEC2c.2926G>C (p.Asp976His)
c.719G>C
c.228G>C
c.57G>C
c.2767G>C (p.Asp923His)
n.518G>C
c.2737G>C (p.Asp913His)
c.2152G>C (p.Asp718His)
c.2863G>C (p.Asp955His)
c.2089G>C (p.Asp697His)
c.2056G>C (p.Asp686His)
n.3090G>C
c.2269G>C (p.Asp757His)
n.3084G>C
Xg.53243454C>TCA413154369IQSEC2c.2926G>A (p.Asp976Asn)
c.719G>A
c.228G>A
c.57G>A
c.2767G>A (p.Asp923Asn)
n.518G>A
c.2737G>A (p.Asp913Asn)
c.2152G>A (p.Asp718Asn)
c.2863G>A (p.Asp955Asn)
c.2089G>A (p.Asp697Asn)
c.2056G>A (p.Asp686Asn)
n.3090G>A
c.2269G>A (p.Asp757Asn)
n.3084G>A
 gnomAD v4
Xg.53243455T>ACA413154377IQSEC2c.2925A>T (p.Glu975Asp)
c.718A>T
c.227A>T
c.56A>T
c.2766A>T (p.Glu922Asp)
n.517A>T
c.2736A>T (p.Glu912Asp)
c.2151A>T (p.Glu717Asp)
c.2862A>T (p.Glu954Asp)
c.2088A>T (p.Glu696Asp)
c.2055A>T (p.Glu685Asp)
n.3089A>T
c.2268A>T (p.Glu756Asp)
n.3083A>T
Xg.53243455T>CCA516426504IQSEC2c.2925A>G (p.Glu975=)
c.718A>G
c.227A>G
c.56A>G
c.2766A>G (p.Glu922=)
n.517A>G
c.2736A>G (p.Glu912=)
c.2151A>G (p.Glu717=)
c.2862A>G (p.Glu954=)
c.2088A>G (p.Glu696=)
c.2055A>G (p.Glu685=)
n.3089A>G
c.2268A>G (p.Glu756=)
n.3083A>G
 gnomAD v4
Xg.53243455T>GCA413154380IQSEC2c.2925A>C (p.Glu975Asp)
c.718A>C
c.227A>C
c.56A>C
c.2766A>C (p.Glu922Asp)
n.517A>C
c.2736A>C (p.Glu912Asp)
c.2151A>C (p.Glu717Asp)
c.2862A>C (p.Glu954Asp)
c.2088A>C (p.Glu696Asp)
c.2055A>C (p.Glu685Asp)
n.3089A>C
c.2268A>C (p.Glu756Asp)
n.3083A>C
Xg.53243456T>ACA413154381IQSEC2c.2924A>T (p.Glu975Val)
c.717A>T
c.226A>T
c.55A>T
c.2765A>T (p.Glu922Val)
n.516A>T
c.2735A>T (p.Glu912Val)
c.2150A>T (p.Glu717Val)
c.2861A>T (p.Glu954Val)
c.2087A>T (p.Glu696Val)
c.2054A>T (p.Glu685Val)
n.3088A>T
c.2267A>T (p.Glu756Val)
n.3082A>T
Xg.53243456T>CCA413154382IQSEC2c.2924A>G (p.Glu975Gly)
c.717A>G
c.226A>G
c.55A>G
c.2765A>G (p.Glu922Gly)
n.516A>G
c.2735A>G (p.Glu912Gly)
c.2150A>G (p.Glu717Gly)
c.2861A>G (p.Glu954Gly)
c.2087A>G (p.Glu696Gly)
c.2054A>G (p.Glu685Gly)
n.3088A>G
c.2267A>G (p.Glu756Gly)
n.3082A>G
Xg.53243456T>GCA413154383IQSEC2c.2924A>C (p.Glu975Ala)
c.717A>C
c.226A>C
c.55A>C
c.2765A>C (p.Glu922Ala)
n.516A>C
c.2735A>C (p.Glu912Ala)
c.2150A>C (p.Glu717Ala)
c.2861A>C (p.Glu954Ala)
c.2087A>C (p.Glu696Ala)
c.2054A>C (p.Glu685Ala)
n.3088A>C
c.2267A>C (p.Glu756Ala)
n.3082A>C
Xg.53243456_53243457delCA2820945957IQSEC2c.2923_2924del (p.Glu975ArgfsTer18)
c.716_717del
c.225_226del
c.54_55del
c.2764_2765del (p.Glu922ArgfsTer18)
n.515_516del
c.2734_2735del (p.Glu912ArgfsTer18)
c.2149_2150del (p.Glu717ArgfsTer18)
c.2860_2861del (p.Glu954ArgfsTer18)
c.2086_2087del (p.Glu696ArgfsTer18)
c.2053_2054del (p.Glu685ArgfsTer18)
n.3087_3088del
c.2266_2267del (p.Glu756ArgfsTer18)
n.3081_3082del
Xg.53243457C>ACA413154386IQSEC2c.2923G>T (p.Glu975Ter)
c.716G>T
c.225G>T
c.54G>T
c.2764G>T (p.Glu922Ter)
n.515G>T
c.2734G>T (p.Glu912Ter)
c.2149G>T (p.Glu717Ter)
c.2860G>T (p.Glu954Ter)
c.2086G>T (p.Glu696Ter)
c.2053G>T (p.Glu685Ter)
n.3087G>T
c.2266G>T (p.Glu756Ter)
n.3081G>T
 dbSNP gnomAD v4
Xg.53243457C=CA2429773382IQSEC2c.2923G= (p.Glu975=)
c.716G=
c.225G=
c.54G=
c.2764G= (p.Glu922=)
n.515G=
c.2734G= (p.Glu912=)
c.2149G= (p.Glu717=)
c.2860G= (p.Glu954=)
c.2086G= (p.Glu696=)
c.2053G= (p.Glu685=)
n.3087G=
c.2266G= (p.Glu756=)
n.3081G=
Xg.53243457C>GCA413154388IQSEC2c.2923G>C (p.Glu975Gln)
c.716G>C
c.225G>C
c.54G>C
c.2764G>C (p.Glu922Gln)
n.515G>C
c.2734G>C (p.Glu912Gln)
c.2149G>C (p.Glu717Gln)
c.2860G>C (p.Glu954Gln)
c.2086G>C (p.Glu696Gln)
c.2053G>C (p.Glu685Gln)
n.3087G>C
c.2266G>C (p.Glu756Gln)
n.3081G>C
 gnomAD v4
Xg.53243457C>TCA413154391IQSEC2c.2923G>A (p.Glu975Lys)
c.716G>A
c.225G>A
c.54G>A
c.2764G>A (p.Glu922Lys)
n.515G>A
c.2734G>A (p.Glu912Lys)
c.2149G>A (p.Glu717Lys)
c.2860G>A (p.Glu954Lys)
c.2086G>A (p.Glu696Lys)
c.2053G>A (p.Glu685Lys)
n.3087G>A
c.2266G>A (p.Glu756Lys)
n.3081G>A
 gnomAD v4
Xg.53243458A>CCA516426508IQSEC2c.2922T>G (p.Gly974=)
c.715T>G
c.224T>G
c.53T>G
c.2763T>G (p.Gly921=)
n.514T>G
c.2733T>G (p.Gly911=)
c.2148T>G (p.Gly716=)
c.2859T>G (p.Gly953=)
c.2085T>G (p.Gly695=)
c.2052T>G (p.Gly684=)
n.3086T>G
c.2265T>G (p.Gly755=)
n.3080T>G
Xg.53243458A>GCA516426510IQSEC2c.2922T>C (p.Gly974=)
c.715T>C
c.224T>C
c.53T>C
c.2763T>C (p.Gly921=)
n.514T>C
c.2733T>C (p.Gly911=)
c.2148T>C (p.Gly716=)
c.2859T>C (p.Gly953=)
c.2085T>C (p.Gly695=)
c.2052T>C (p.Gly684=)
n.3086T>C
c.2265T>C (p.Gly755=)
n.3080T>C
 gnomAD v4
Xg.53243458A>TCA516426512IQSEC2c.2922T>A (p.Gly974=)
c.715T>A
c.224T>A
c.53T>A
c.2763T>A (p.Gly921=)
n.514T>A
c.2733T>A (p.Gly911=)
c.2148T>A (p.Gly716=)
c.2859T>A (p.Gly953=)
c.2085T>A (p.Gly695=)
c.2052T>A (p.Gly684=)
n.3086T>A
c.2265T>A (p.Gly755=)
n.3080T>A
Xg.53243459C>ACA413154401IQSEC2c.2921G>T (p.Gly974Val)
c.714G>T
c.223G>T
c.52G>T
c.2762G>T (p.Gly921Val)
n.513G>T
c.2732G>T (p.Gly911Val)
c.2147G>T (p.Gly716Val)
c.2858G>T (p.Gly953Val)
c.2084G>T (p.Gly695Val)
c.2051G>T (p.Gly684Val)
n.3085G>T
c.2264G>T (p.Gly755Val)
n.3079G>T
 gnomAD v4
Xg.53243459C>GCA413154405IQSEC2c.2921G>C (p.Gly974Ala)
c.714G>C
c.223G>C
c.52G>C
c.2762G>C (p.Gly921Ala)
n.513G>C
c.2732G>C (p.Gly911Ala)
c.2147G>C (p.Gly716Ala)
c.2858G>C (p.Gly953Ala)
c.2084G>C (p.Gly695Ala)
c.2051G>C (p.Gly684Ala)
n.3085G>C
c.2264G>C (p.Gly755Ala)
n.3079G>C
Xg.53243459C>TCA413154407IQSEC2c.2921G>A (p.Gly974Asp)
c.714G>A
c.223G>A
c.52G>A
c.2762G>A (p.Gly921Asp)
n.513G>A
c.2732G>A (p.Gly911Asp)
c.2147G>A (p.Gly716Asp)
c.2858G>A (p.Gly953Asp)
c.2084G>A (p.Gly695Asp)
c.2051G>A (p.Gly684Asp)
n.3085G>A
c.2264G>A (p.Gly755Asp)
n.3079G>A
 gnomAD v4
Xg.53243460C>ACA413154410IQSEC2c.2920G>T (p.Gly974Cys)
c.713G>T
c.222G>T
c.51G>T
c.2761G>T (p.Gly921Cys)
n.512G>T
c.2731G>T (p.Gly911Cys)
c.2146G>T (p.Gly716Cys)
c.2857G>T (p.Gly953Cys)
c.2083G>T (p.Gly695Cys)
c.2050G>T (p.Gly684Cys)
n.3084G>T
c.2263G>T (p.Gly755Cys)
n.3078G>T
 gnomAD v4
Xg.53243460C>GCA413154412IQSEC2c.2920G>C (p.Gly974Arg)
c.713G>C
c.222G>C
c.51G>C
c.2761G>C (p.Gly921Arg)
n.512G>C
c.2731G>C (p.Gly911Arg)
c.2146G>C (p.Gly716Arg)
c.2857G>C (p.Gly953Arg)
c.2083G>C (p.Gly695Arg)
c.2050G>C (p.Gly684Arg)
n.3084G>C
c.2263G>C (p.Gly755Arg)
n.3078G>C
Xg.53243460C>TCA413154417IQSEC2c.2920G>A (p.Gly974Ser)
c.713G>A
c.222G>A
c.51G>A
c.2761G>A (p.Gly921Ser)
n.512G>A
c.2731G>A (p.Gly911Ser)
c.2146G>A (p.Gly716Ser)
c.2857G>A (p.Gly953Ser)
c.2083G>A (p.Gly695Ser)
c.2050G>A (p.Gly684Ser)
n.3084G>A
c.2263G>A (p.Gly755Ser)
n.3078G>A
 gnomAD v4
Xg.53243461A=CA2429773383IQSEC2c.2919T= (p.Asn973=)
c.712T=
c.221T=
c.50T=
c.2760T= (p.Asn920=)
n.511T=
c.2730T= (p.Asn910=)
c.2145T= (p.Asn715=)
c.2856T= (p.Asn952=)
c.2082T= (p.Asn694=)
c.2049T= (p.Asn683=)
n.3083T=
c.2262T= (p.Asn754=)
n.3077T=
Xg.53243461A>CCA413154422IQSEC2c.2919T>G (p.Asn973Lys)
c.712T>G
c.221T>G
c.50T>G
c.2760T>G (p.Asn920Lys)
n.511T>G
c.2730T>G (p.Asn910Lys)
c.2145T>G (p.Asn715Lys)
c.2856T>G (p.Asn952Lys)
c.2082T>G (p.Asn694Lys)
c.2049T>G (p.Asn683Lys)
n.3083T>G
c.2262T>G (p.Asn754Lys)
n.3077T>G
Xg.53243461A>GCA516426517IQSEC2c.2919T>C (p.Asn973=)
c.712T>C
c.221T>C
c.50T>C
c.2760T>C (p.Asn920=)
n.511T>C
c.2730T>C (p.Asn910=)
c.2145T>C (p.Asn715=)
c.2856T>C (p.Asn952=)
c.2082T>C (p.Asn694=)
c.2049T>C (p.Asn683=)
n.3083T>C
c.2262T>C (p.Asn754=)
n.3077T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53243461A>TCA413154420IQSEC2c.2919T>A (p.Asn973Lys)
c.712T>A
c.221T>A
c.50T>A
c.2760T>A (p.Asn920Lys)
n.511T>A
c.2730T>A (p.Asn910Lys)
c.2145T>A (p.Asn715Lys)
c.2856T>A (p.Asn952Lys)
c.2082T>A (p.Asn694Lys)
c.2049T>A (p.Asn683Lys)
n.3083T>A
c.2262T>A (p.Asn754Lys)
n.3077T>A
 gnomAD v4
Xg.53243462T>ACA413154427IQSEC2c.2918A>T (p.Asn973Ile)
c.711A>T
c.220A>T
c.49A>T
c.2759A>T (p.Asn920Ile)
n.510A>T
c.2729A>T (p.Asn910Ile)
c.2144A>T (p.Asn715Ile)
c.2855A>T (p.Asn952Ile)
c.2081A>T (p.Asn694Ile)
c.2048A>T (p.Asn683Ile)
n.3082A>T
c.2261A>T (p.Asn754Ile)
n.3076A>T
Xg.53243462T>CCA413154431IQSEC2c.2918A>G (p.Asn973Ser)
c.711A>G
c.220A>G
c.49A>G
c.2759A>G (p.Asn920Ser)
n.510A>G
c.2729A>G (p.Asn910Ser)
c.2144A>G (p.Asn715Ser)
c.2855A>G (p.Asn952Ser)
c.2081A>G (p.Asn694Ser)
c.2048A>G (p.Asn683Ser)
n.3082A>G
c.2261A>G (p.Asn754Ser)
n.3076A>G
 ClinVar gnomAD v4
Xg.53243462T>GCA413154439IQSEC2c.2918A>C (p.Asn973Thr)
c.711A>C
c.220A>C
c.49A>C
c.2759A>C (p.Asn920Thr)
n.510A>C
c.2729A>C (p.Asn910Thr)
c.2144A>C (p.Asn715Thr)
c.2855A>C (p.Asn952Thr)
c.2081A>C (p.Asn694Thr)
c.2048A>C (p.Asn683Thr)
n.3082A>C
c.2261A>C (p.Asn754Thr)
n.3076A>C
Xg.53243463T>ACA413154442IQSEC2c.2917A>T (p.Asn973Tyr)
c.710A>T
c.219A>T
c.48A>T
c.2758A>T (p.Asn920Tyr)
n.509A>T
c.2728A>T (p.Asn910Tyr)
c.2143A>T (p.Asn715Tyr)
c.2854A>T (p.Asn952Tyr)
c.2080A>T (p.Asn694Tyr)
c.2047A>T (p.Asn683Tyr)
n.3081A>T
c.2260A>T (p.Asn754Tyr)
n.3075A>T
Xg.53243463T>CCA413154444IQSEC2c.2917A>G (p.Asn973Asp)
c.710A>G
c.219A>G
c.48A>G
c.2758A>G (p.Asn920Asp)
n.509A>G
c.2728A>G (p.Asn910Asp)
c.2143A>G (p.Asn715Asp)
c.2854A>G (p.Asn952Asp)
c.2080A>G (p.Asn694Asp)
c.2047A>G (p.Asn683Asp)
n.3081A>G
c.2260A>G (p.Asn754Asp)
n.3075A>G
 ClinVar gnomAD v4
Xg.53243463T>GCA413154446IQSEC2c.2917A>C (p.Asn973His)
c.710A>C
c.219A>C
c.48A>C
c.2758A>C (p.Asn920His)
n.509A>C
c.2728A>C (p.Asn910His)
c.2143A>C (p.Asn715His)
c.2854A>C (p.Asn952His)
c.2080A>C (p.Asn694His)
c.2047A>C (p.Asn683His)
n.3081A>C
c.2260A>C (p.Asn754His)
n.3075A>C
Xg.53243464G>ACA516426518IQSEC2c.2916C>T (p.Asp972=)
c.709C>T
c.218C>T
c.47C>T
c.2757C>T (p.Asp919=)
n.508C>T
c.2727C>T (p.Asp909=)
c.2142C>T (p.Asp714=)
c.2853C>T (p.Asp951=)
c.2079C>T (p.Asp693=)
c.2046C>T (p.Asp682=)
n.3080C>T
c.2259C>T (p.Asp753=)
n.3074C>T
 gnomAD v4
Xg.53243464G>CCA413154450IQSEC2c.2916C>G (p.Asp972Glu)
c.709C>G
c.218C>G
c.47C>G
c.2757C>G (p.Asp919Glu)
n.508C>G
c.2727C>G (p.Asp909Glu)
c.2142C>G (p.Asp714Glu)
c.2853C>G (p.Asp951Glu)
c.2079C>G (p.Asp693Glu)
c.2046C>G (p.Asp682Glu)
n.3080C>G
c.2259C>G (p.Asp753Glu)
n.3074C>G
 gnomAD v4
Xg.53243464G>TCA413154449IQSEC2c.2916C>A (p.Asp972Glu)
c.709C>A
c.218C>A
c.47C>A
c.2757C>A (p.Asp919Glu)
n.508C>A
c.2727C>A (p.Asp909Glu)
c.2142C>A (p.Asp714Glu)
c.2853C>A (p.Asp951Glu)
c.2079C>A (p.Asp693Glu)
c.2046C>A (p.Asp682Glu)
n.3080C>A
c.2259C>A (p.Asp753Glu)
n.3074C>A
 gnomAD v4
Xg.53243465T>ACA413154455IQSEC2c.2915A>T (p.Asp972Val)
c.708A>T
c.217A>T
c.46A>T
c.2756A>T (p.Asp919Val)
n.507A>T
c.2726A>T (p.Asp909Val)
c.2141A>T (p.Asp714Val)
c.2852A>T (p.Asp951Val)
c.2078A>T (p.Asp693Val)
c.2045A>T (p.Asp682Val)
n.3079A>T
c.2258A>T (p.Asp753Val)
n.3073A>T
Xg.53243465T>CCA413154457IQSEC2c.2915A>G (p.Asp972Gly)
c.708A>G
c.217A>G
c.46A>G
c.2756A>G (p.Asp919Gly)
n.507A>G
c.2726A>G (p.Asp909Gly)
c.2141A>G (p.Asp714Gly)
c.2852A>G (p.Asp951Gly)
c.2078A>G (p.Asp693Gly)
c.2045A>G (p.Asp682Gly)
n.3079A>G
c.2258A>G (p.Asp753Gly)
n.3073A>G
 gnomAD v4
Xg.53243465T>GCA413154461IQSEC2c.2915A>C (p.Asp972Ala)
c.708A>C
c.217A>C
c.46A>C
c.2756A>C (p.Asp919Ala)
n.507A>C
c.2726A>C (p.Asp909Ala)
c.2141A>C (p.Asp714Ala)
c.2852A>C (p.Asp951Ala)
c.2078A>C (p.Asp693Ala)
c.2045A>C (p.Asp682Ala)
n.3079A>C
c.2258A>C (p.Asp753Ala)
n.3073A>C
Xg.53243466C>ACA413154463IQSEC2c.2914G>T (p.Asp972Tyr)
c.707G>T
c.216G>T
c.45G>T
c.2755G>T (p.Asp919Tyr)
n.506G>T
c.2725G>T (p.Asp909Tyr)
c.2140G>T (p.Asp714Tyr)
c.2851G>T (p.Asp951Tyr)
c.2077G>T (p.Asp693Tyr)
c.2044G>T (p.Asp682Tyr)
n.3078G>T
c.2257G>T (p.Asp753Tyr)
n.3072G>T
 gnomAD v4
Xg.53243466C>GCA413154465IQSEC2c.2914G>C (p.Asp972His)
c.707G>C
c.216G>C
c.45G>C
c.2755G>C (p.Asp919His)
n.506G>C
c.2725G>C (p.Asp909His)
c.2140G>C (p.Asp714His)
c.2851G>C (p.Asp951His)
c.2077G>C (p.Asp693His)
c.2044G>C (p.Asp682His)
n.3078G>C
c.2257G>C (p.Asp753His)
n.3072G>C
 gnomAD v4
Xg.53243466C>TCA413154467IQSEC2c.2914G>A (p.Asp972Asn)
c.707G>A
c.216G>A
c.45G>A
c.2755G>A (p.Asp919Asn)
n.506G>A
c.2725G>A (p.Asp909Asn)
c.2140G>A (p.Asp714Asn)
c.2851G>A (p.Asp951Asn)
c.2077G>A (p.Asp693Asn)
c.2044G>A (p.Asp682Asn)
n.3078G>A
c.2257G>A (p.Asp753Asn)
n.3072G>A
 gnomAD v4
Xg.53243467A=CA2429773384IQSEC2c.2913T= (p.Val971=)
c.706T=
c.215T=
c.44T=
c.2754T= (p.Val918=)
n.505T=
c.2724T= (p.Val908=)
c.2139T= (p.Val713=)
c.2850T= (p.Val950=)
c.2076T= (p.Val692=)
c.2043T= (p.Val681=)
n.3077T=
c.2256T= (p.Val752=)
n.3071T=
Xg.53243467A>CCA516426524IQSEC2c.2913T>G (p.Val971=)
c.706T>G
c.215T>G
c.44T>G
c.2754T>G (p.Val918=)
n.505T>G
c.2724T>G (p.Val908=)
c.2139T>G (p.Val713=)
c.2850T>G (p.Val950=)
c.2076T>G (p.Val692=)
c.2043T>G (p.Val681=)
n.3077T>G
c.2256T>G (p.Val752=)
n.3071T>G
Xg.53243467A>GCA516426525IQSEC2c.2913T>C (p.Val971=)
c.706T>C
c.215T>C
c.44T>C
c.2754T>C (p.Val918=)
n.505T>C
c.2724T>C (p.Val908=)
c.2139T>C (p.Val713=)
c.2850T>C (p.Val950=)
c.2076T>C (p.Val692=)
c.2043T>C (p.Val681=)
n.3077T>C
c.2256T>C (p.Val752=)
n.3071T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.53243467A>TCA516426527IQSEC2c.2913T>A (p.Val971=)
c.706T>A
c.215T>A
c.44T>A
c.2754T>A (p.Val918=)
n.505T>A
c.2724T>A (p.Val908=)
c.2139T>A (p.Val713=)
c.2850T>A (p.Val950=)
c.2076T>A (p.Val692=)
c.2043T>A (p.Val681=)
n.3077T>A
c.2256T>A (p.Val752=)
n.3071T>A
 gnomAD v4

Number of alleles fetched