Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178014365A>C | CA349703826 | PDE11A | c.1008T>G (p.Ile336Met) c.258T>G (p.Ile86Met) | gnomAD v4 |
2 | g.178014365A>G | CA430205444 | PDE11A | c.1008T>C (p.Ile336=) c.258T>C (p.Ile86=) | |
2 | g.178014365A>T | CA430205445 | PDE11A | c.1008T>A (p.Ile336=) c.258T>A (p.Ile86=) | |
2 | g.178014366A>C | CA349703827 | PDE11A | c.1007T>G (p.Ile336Ser) c.257T>G (p.Ile86Ser) | |
2 | g.178014366A>G | CA349703828 | PDE11A | c.1007T>C (p.Ile336Thr) c.257T>C (p.Ile86Thr) | |
2 | g.178014366A>T | CA349703829 | PDE11A | c.1007T>A (p.Ile336Asn) c.257T>A (p.Ile86Asn) | |
2 | g.178014367T>A | CA349703830 | PDE11A | c.1006A>T (p.Ile336Phe) c.256A>T (p.Ile86Phe) | |
2 | g.178014367T>C | CA349703832 | PDE11A | c.1006A>G (p.Ile336Val) c.256A>G (p.Ile86Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014367T>G | CA349703831 | PDE11A | c.1006A>C (p.Ile336Leu) c.256A>C (p.Ile86Leu) | |
2 | g.178014367T= | CA1310286822 | PDE11A | c.1006A= (p.Ile336=) c.256A= (p.Ile86=) | |
2 | g.178014368A>C | CA349703833 | PDE11A | c.1005T>G (p.Ile335Met) c.255T>G (p.Ile85Met) | |
2 | g.178014368A>G | CA430205446 | PDE11A | c.1005T>C (p.Ile335=) c.255T>C (p.Ile85=) | |
2 | g.178014368A>T | CA430205447 | PDE11A | c.1005T>A (p.Ile335=) c.255T>A (p.Ile85=) | |
2 | g.178014369A= | CA1310286823 | PDE11A | c.1004T= (p.Ile335=) c.254T= (p.Ile85=) | |
2 | g.178014369A>C | CA349703834 | PDE11A | c.1004T>G (p.Ile335Ser) c.254T>G (p.Ile85Ser) | |
2 | g.178014369A>G | CA1982144 | PDE11A | c.1004T>C (p.Ile335Thr) c.254T>C (p.Ile85Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014369A>T | CA349703835 | PDE11A | c.1004T>A (p.Ile335Asn) c.254T>A (p.Ile85Asn) | |
2 | g.178014370T>A | CA349703838 | PDE11A | c.1003A>T (p.Ile335Phe) c.253A>T (p.Ile85Phe) | |
2 | g.178014370T>C | CA349703837 | PDE11A | c.1003A>G (p.Ile335Val) c.253A>G (p.Ile85Val) | |
2 | g.178014370T>G | CA349703836 | PDE11A | c.1003A>C (p.Ile335Leu) c.253A>C (p.Ile85Leu) | |
2 | g.178014371C>A | CA349703839 | PDE11A | c.1002G>T (p.Glu334Asp) c.252G>T (p.Glu84Asp) | |
2 | g.178014371C>G | CA349703840 | PDE11A | c.1002G>C (p.Glu334Asp) c.252G>C (p.Glu84Asp) | |
2 | g.178014371C>T | CA430205448 | PDE11A | c.1002G>A (p.Glu334=) c.252G>A (p.Glu84=) | |
2 | g.178014372T>A | CA349703841 | PDE11A | c.1001A>T (p.Glu334Val) c.251A>T (p.Glu84Val) | |
2 | g.178014372T>C | CA349703843 | PDE11A | c.1001A>G (p.Glu334Gly) c.251A>G (p.Glu84Gly) | |
2 | g.178014372T>G | CA349703842 | PDE11A | c.1001A>C (p.Glu334Ala) c.251A>C (p.Glu84Ala) | |
2 | g.178014373C>A | CA1982145 | PDE11A | c.1000G>T (p.Glu334Ter) c.250G>T (p.Glu84Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014373C= | CA1310286824 | PDE11A | c.1000G= (p.Glu334=) c.250G= (p.Glu84=) | |
2 | g.178014373C>G | CA349703844 | PDE11A | c.1000G>C (p.Glu334Gln) c.250G>C (p.Glu84Gln) | |
2 | g.178014373C>T | CA61449350 | PDE11A | c.1000G>A (p.Glu334Lys) c.250G>A (p.Glu84Lys) | dbSNP gnomAD v4 |
2 | g.178014374A>C | CA430205449 | PDE11A | c.999T>G (p.Gly333=) c.249T>G (p.Gly83=) | gnomAD v4 |
2 | g.178014374A>G | CA430205450 | PDE11A | c.999T>C (p.Gly333=) c.249T>C (p.Gly83=) | |
2 | g.178014374A>T | CA430205451 | PDE11A | c.999T>A (p.Gly333=) c.249T>A (p.Gly83=) | |
2 | g.178014375C>A | CA349703845 | PDE11A | c.998G>T (p.Gly333Val) c.248G>T (p.Gly83Val) | |
2 | g.178014375C>G | CA349703846 | PDE11A | c.998G>C (p.Gly333Ala) c.248G>C (p.Gly83Ala) | |
2 | g.178014375C>T | CA349703847 | PDE11A | c.998G>A (p.Gly333Asp) c.248G>A (p.Gly83Asp) | |
2 | g.178014376C>A | CA349703848 | PDE11A | c.997G>T (p.Gly333Cys) c.247G>T (p.Gly83Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014376C= | CA1310286825 | PDE11A | c.997G= (p.Gly333=) c.247G= (p.Gly83=) | |
2 | g.178014376C>G | CA349703849 | PDE11A | c.997G>C (p.Gly333Arg) c.247G>C (p.Gly83Arg) | |
2 | g.178014376C>T | CA349703850 | PDE11A | c.997G>A (p.Gly333Ser) c.247G>A (p.Gly83Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014377A>C | CA349703851 | PDE11A | c.996T>G (p.Asp332Glu) c.246T>G (p.Asp82Glu) | |
2 | g.178014377A>G | CA430205452 | PDE11A | c.996T>C (p.Asp332=) c.246T>C (p.Asp82=) | gnomAD v4 |
2 | g.178014377A>T | CA349703852 | PDE11A | c.996T>A (p.Asp332Glu) c.246T>A (p.Asp82Glu) | |
2 | g.178014378T>A | CA349703855 | PDE11A | c.995A>T (p.Asp332Val) c.245A>T (p.Asp82Val) | |
2 | g.178014378T>C | CA349703853 | PDE11A | c.995A>G (p.Asp332Gly) c.245A>G (p.Asp82Gly) | |
2 | g.178014378T>G | CA349703854 | PDE11A | c.995A>C (p.Asp332Ala) c.245A>C (p.Asp82Ala) | |
2 | g.178014379C>A | CA349703856 | PDE11A | c.994G>T (p.Asp332Tyr) c.244G>T (p.Asp82Tyr) | |
2 | g.178014379C>G | CA349703857 | PDE11A | c.994G>C (p.Asp332His) c.244G>C (p.Asp82His) | |
2 | g.178014379C>T | CA349703858 | PDE11A | c.994G>A (p.Asp332Asn) c.244G>A (p.Asp82Asn) | |
2 | g.178014380A>C | CA349703859 | PDE11A | c.993T>G (p.Ser331Arg) c.243T>G (p.Ser81Arg) | |
2 | g.178014380A>G | CA430205453 | PDE11A | c.993T>C (p.Ser331=) c.243T>C (p.Ser81=) | gnomAD v4 |
2 | g.178014380A>T | CA349703860 | PDE11A | c.993T>A (p.Ser331Arg) c.243T>A (p.Ser81Arg) | |
2 | g.178014380dup | CA2841593495 | PDE11A | c.993dup (p.Asp332Ter) c.243dup (p.Asp82Ter) | |
2 | g.178014381C>A | CA349703861 | PDE11A | c.992G>T (p.Ser331Ile) c.242G>T (p.Ser81Ile) | |
2 | g.178014381C>G | CA349703862 | PDE11A | c.992G>C (p.Ser331Thr) c.242G>C (p.Ser81Thr) | |
2 | g.178014381C>T | CA349703863 | PDE11A | c.992G>A (p.Ser331Asn) c.242G>A (p.Ser81Asn) | gnomAD v4 |
2 | g.178014382T>A | CA349703864 | PDE11A | c.991A>T (p.Ser331Cys) c.241A>T (p.Ser81Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014382T>C | CA349703865 | PDE11A | c.991A>G (p.Ser331Gly) c.241A>G (p.Ser81Gly) | |
2 | g.178014382T>G | CA349703866 | PDE11A | c.991A>C (p.Ser331Arg) c.241A>C (p.Ser81Arg) | |
2 | g.178014382T= | CA1310286826 | PDE11A | c.991A= (p.Ser331=) c.241A= (p.Ser81=) | |
2 | g.178014383G>A | CA430205454 | PDE11A | c.990C>T (p.Ser330=) c.240C>T (p.Ser80=) | |
2 | g.178014383G>C | CA349703868 | PDE11A | c.990C>G (p.Ser330Arg) c.240C>G (p.Ser80Arg) | |
2 | g.178014383G>T | CA349703867 | PDE11A | c.990C>A (p.Ser330Arg) c.240C>A (p.Ser80Arg) | |
2 | g.178014384C>A | CA349703869 | PDE11A | c.989G>T (p.Ser330Ile) c.239G>T (p.Ser80Ile) | |
2 | g.178014384C>G | CA349703870 | PDE11A | c.989G>C (p.Ser330Thr) c.239G>C (p.Ser80Thr) | |
2 | g.178014384C>T | CA349703871 | PDE11A | c.989G>A (p.Ser330Asn) c.239G>A (p.Ser80Asn) | |
2 | g.178014385T>A | CA349703872 | PDE11A | c.988A>T (p.Ser330Cys) c.238A>T (p.Ser80Cys) | |
2 | g.178014385T>C | CA349703873 | PDE11A | c.988A>G (p.Ser330Gly) c.238A>G (p.Ser80Gly) | |
2 | g.178014385T>G | CA349703874 | PDE11A | c.988A>C (p.Ser330Arg) c.238A>C (p.Ser80Arg) | |
2 | g.178014386T>A | CA430205455 | PDE11A | c.987A>T (p.Arg329=) c.237A>T (p.Arg79=) | |
2 | g.178014386T>C | CA430205456 | PDE11A | c.987A>G (p.Arg329=) c.237A>G (p.Arg79=) | |
2 | g.178014386T>G | CA430205457 | PDE11A | c.987A>C (p.Arg329=) c.237A>C (p.Arg79=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014386T= | CA1310286827 | PDE11A | c.987A= (p.Arg329=) c.237A= (p.Arg79=) | |
2 | g.178014387C>A | CA349703875 | PDE11A | c.986G>T (p.Arg329Leu) c.236G>T (p.Arg79Leu) | |
2 | g.178014387C= | CA1310286828 | PDE11A | c.986G= (p.Arg329=) c.236G= (p.Arg79=) | |
2 | g.178014387C>G | CA349703876 | PDE11A | c.986G>C (p.Arg329Pro) c.236G>C (p.Arg79Pro) | |
2 | g.178014387C>T | CA1982146 | PDE11A | c.986G>A (p.Arg329Gln) c.236G>A (p.Arg79Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014388G>A | CA1982147 | PDE11A | c.985C>T (p.Arg329Ter) c.235C>T (p.Arg79Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014388G>C | CA349703877 | PDE11A | c.985C>G (p.Arg329Gly) c.235C>G (p.Arg79Gly) | |
2 | g.178014388G= | CA1310286829 | PDE11A | c.985C= (p.Arg329=) c.235C= (p.Arg79=) | |
2 | g.178014388G>T | CA430205458 | PDE11A | c.985C>A (p.Arg329=) c.235C>A (p.Arg79=) | |
2 | g.178014389G>A | CA1982148 | PDE11A | c.984C>T (p.Ile328=) c.234C>T (p.Ile78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014389G>C | CA349703878 | PDE11A | c.984C>G (p.Ile328Met) c.234C>G (p.Ile78Met) | |
2 | g.178014389G= | CA1310286830 | PDE11A | c.984C= (p.Ile328=) c.234C= (p.Ile78=) | |
2 | g.178014389G>T | CA430205459 | PDE11A | c.984C>A (p.Ile328=) c.234C>A (p.Ile78=) | |
2 | g.178014390A>C | CA349703881 | PDE11A | c.983T>G (p.Ile328Ser) c.233T>G (p.Ile78Ser) | |
2 | g.178014390A>G | CA349703879 | PDE11A | c.983T>C (p.Ile328Thr) c.233T>C (p.Ile78Thr) | |
2 | g.178014390A>T | CA349703880 | PDE11A | c.983T>A (p.Ile328Asn) c.233T>A (p.Ile78Asn) | |
2 | g.178014391T>A | CA349703882 | PDE11A | c.982A>T (p.Ile328Phe) c.232A>T (p.Ile78Phe) | |
2 | g.178014391T>C | CA349703883 | PDE11A | c.982A>G (p.Ile328Val) c.232A>G (p.Ile78Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014391T>G | CA349703884 | PDE11A | c.982A>C (p.Ile328Leu) c.232A>C (p.Ile78Leu) | |
2 | g.178014391T= | CA1310286831 | PDE11A | c.982A= (p.Ile328=) c.232A= (p.Ile78=) | |
2 | g.178014392A>C | CA430205460 | PDE11A | c.981T>G (p.Pro327=) c.231T>G (p.Pro77=) | |
2 | g.178014392A>G | CA430205461 | PDE11A | c.981T>C (p.Pro327=) c.231T>C (p.Pro77=) | |
2 | g.178014392A>T | CA430205462 | PDE11A | c.981T>A (p.Pro327=) c.231T>A (p.Pro77=) | |
2 | g.178014393G>A | CA1982149 | PDE11A | c.980C>T (p.Pro327Leu) c.230C>T (p.Pro77Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014393G>C | CA1982150 | PDE11A | c.980C>G (p.Pro327Arg) c.230C>G (p.Pro77Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014393G= | CA1310286832 | PDE11A | c.980C= (p.Pro327=) c.230C= (p.Pro77=) | |
2 | g.178014393G>T | CA349703885 | PDE11A | c.980C>A (p.Pro327His) c.230C>A (p.Pro77His) | |
2 | g.178014394G>A | CA349703886 | PDE11A | c.979C>T (p.Pro327Ser) c.229C>T (p.Pro77Ser) | |
2 | g.178014394G>C | CA349703887 | PDE11A | c.979C>G (p.Pro327Ala) c.229C>G (p.Pro77Ala) | |
2 | g.178014394G>T | CA349703888 | PDE11A | c.979C>A (p.Pro327Thr) c.229C>A (p.Pro77Thr) | |
2 | g.178014398_178014499dup | CA2662096199 | PDE11A | c.913-35_979dup c.163-35_229dup | gnomAD v4 |
2 | g.178014395C>A | CA349703889 | PDE11A | c.978G>T (p.Met326Ile) c.228G>T (p.Met76Ile) | |
2 | g.178014395C= | CA1310286833 | PDE11A | c.978G= (p.Met326=) c.228G= (p.Met76=) | |
2 | g.178014395C>G | CA349703890 | PDE11A | c.978G>C (p.Met326Ile) c.228G>C (p.Met76Ile) | |
2 | g.178014395C>T | CA349703891 | PDE11A | c.978G>A (p.Met326Ile) c.228G>A (p.Met76Ile) | dbSNP gnomAD v4 |
2 | g.178014396A>C | CA349703893 | PDE11A | c.977T>G (p.Met326Arg) c.227T>G (p.Met76Arg) | |
2 | g.178014396A>G | CA349703894 | PDE11A | c.977T>C (p.Met326Thr) c.227T>C (p.Met76Thr) | |
2 | g.178014396A>T | CA349703892 | PDE11A | c.977T>A (p.Met326Lys) c.227T>A (p.Met76Lys) | |
2 | g.178014397T>A | CA349703895 | PDE11A | c.976A>T (p.Met326Leu) c.226A>T (p.Met76Leu) | |
2 | g.178014397T>C | CA349703896 | PDE11A | c.976A>G (p.Met326Val) c.226A>G (p.Met76Val) | |
2 | g.178014397T>G | CA1982151 | PDE11A | c.976A>C (p.Met326Leu) c.226A>C (p.Met76Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014397T= | CA1310286834 | PDE11A | c.976A= (p.Met326=) c.226A= (p.Met76=) | |
2 | g.178014398G>A | CA1982152 | PDE11A | c.975C>T (p.Cys325=) c.225C>T (p.Cys75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014398G>C | CA349703897 | PDE11A | c.975C>G (p.Cys325Trp) c.225C>G (p.Cys75Trp) | |
2 | g.178014398G= | CA1310286835 | PDE11A | c.975C= (p.Cys325=) c.225C= (p.Cys75=) | |
2 | g.178014398G>T | CA349703898 | PDE11A | c.975C>A (p.Cys325Ter) c.225C>A (p.Cys75Ter) | dbSNP |
2 | g.178014399C>A | CA349703900 | PDE11A | c.974G>T (p.Cys325Phe) c.224G>T (p.Cys75Phe) | gnomAD v4 |
2 | g.178014399C= | CA1310286836 | PDE11A | c.974G= (p.Cys325=) c.224G= (p.Cys75=) | |
2 | g.178014399C>G | CA349703899 | PDE11A | c.974G>C (p.Cys325Ser) c.224G>C (p.Cys75Ser) | |
2 | g.178014399C>T | CA1982153 | PDE11A | c.974G>A (p.Cys325Tyr) c.224G>A (p.Cys75Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014400A>C | CA349703901 | PDE11A | c.973T>G (p.Cys325Gly) c.223T>G (p.Cys75Gly) | |
2 | g.178014400A>G | CA349703902 | PDE11A | c.973T>C (p.Cys325Arg) c.223T>C (p.Cys75Arg) | |
2 | g.178014400A>T | CA349703903 | PDE11A | c.973T>A (p.Cys325Ser) c.223T>A (p.Cys75Ser) | |
2 | g.178014401C>A | CA349703904 | PDE11A | c.972G>T (p.Leu324Phe) c.222G>T (p.Leu74Phe) | |
2 | g.178014401C= | CA1310286837 | PDE11A | c.972G= (p.Leu324=) c.222G= (p.Leu74=) | |
2 | g.178014401C>G | CA349703905 | PDE11A | c.972G>C (p.Leu324Phe) c.222G>C (p.Leu74Phe) | |
2 | g.178014401C>T | CA430205463 | PDE11A | c.972G>A (p.Leu324=) c.222G>A (p.Leu74=) | dbSNP |
2 | g.178014402A>C | CA349703908 | PDE11A | c.971T>G (p.Leu324Trp) c.221T>G (p.Leu74Trp) | |
2 | g.178014402A>G | CA349703906 | PDE11A | c.971T>C (p.Leu324Ser) c.221T>C (p.Leu74Ser) | |
2 | g.178014402A>T | CA349703907 | PDE11A | c.971T>A (p.Leu324Ter) c.221T>A (p.Leu74Ter) | |
2 | g.178014403A>C | CA349703909 | PDE11A | c.970T>G (p.Leu324Val) c.220T>G (p.Leu74Val) | |
2 | g.178014403A>G | CA430205464 | PDE11A | c.970T>C (p.Leu324=) c.220T>C (p.Leu74=) | |
2 | g.178014403A>T | CA349703910 | PDE11A | c.970T>A (p.Leu324Met) c.220T>A (p.Leu74Met) | |
2 | g.178014404T>A | CA349703911 | PDE11A | c.969A>T (p.Leu323Phe) c.219A>T (p.Leu73Phe) | |
2 | g.178014404T>C | CA430205465 | PDE11A | c.969A>G (p.Leu323=) c.219A>G (p.Leu73=) | |
2 | g.178014404T>G | CA349703912 | PDE11A | c.969A>C (p.Leu323Phe) c.219A>C (p.Leu73Phe) | |
2 | g.178014405A>C | CA349703913 | PDE11A | c.968T>G (p.Leu323Ter) c.218T>G (p.Leu73Ter) | |
2 | g.178014405A>G | CA349703914 | PDE11A | c.968T>C (p.Leu323Ser) c.218T>C (p.Leu73Ser) | |
2 | g.178014405A>T | CA349703915 | PDE11A | c.968T>A (p.Leu323Ter) c.218T>A (p.Leu73Ter) | |
2 | g.178014406del | CA2662096200 | PDE11A | c.968del (p.Leu323TyrfsTer20) c.218del (p.Leu73TyrfsTer20) | gnomAD v4 |
2 | g.178014406A= | CA1310286838 | PDE11A | c.967T= (p.Leu323=) c.217T= (p.Leu73=) | |
2 | g.178014406A>C | CA349703916 | PDE11A | c.967T>G (p.Leu323Val) c.217T>G (p.Leu73Val) | COSMIC COSMIC |
2 | g.178014406A>G | CA1982154 | PDE11A | c.967T>C (p.Leu323=) c.217T>C (p.Leu73=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014406A>T | CA349703917 | PDE11A | c.967T>A (p.Leu323Ile) c.217T>A (p.Leu73Ile) | |
2 | g.178014408_178014410del | CA2606704098 | PDE11A | c.965_967del (p.Ser322del) c.215_217del (p.Ser72del) | gnomAD v3 gnomAD v4 |
2 | g.178014407T>A | CA430205466 | PDE11A | c.966A>T (p.Ser322=) c.216A>T (p.Ser72=) | gnomAD v4 |
2 | g.178014407T>C | CA430205467 | PDE11A | c.966A>G (p.Ser322=) c.216A>G (p.Ser72=) | |
2 | g.178014407T>G | CA430205468 | PDE11A | c.966A>C (p.Ser322=) c.216A>C (p.Ser72=) | |
2 | g.178014408G>A | CA349703918 | PDE11A | c.965C>T (p.Ser322Leu) c.215C>T (p.Ser72Leu) | COSMIC COSMIC |
2 | g.178014408G>C | CA349703919 | PDE11A | c.965C>G (p.Ser322Ter) c.215C>G (p.Ser72Ter) | |
2 | g.178014408G>T | CA349703920 | PDE11A | c.965C>A (p.Ser322Ter) c.215C>A (p.Ser72Ter) | |
2 | g.178014409A>C | CA349703921 | PDE11A | c.964T>G (p.Ser322Ala) c.214T>G (p.Ser72Ala) | |
2 | g.178014409A>G | CA349703923 | PDE11A | c.964T>C (p.Ser322Pro) c.214T>C (p.Ser72Pro) | |
2 | g.178014409A>T | CA349703922 | PDE11A | c.964T>A (p.Ser322Thr) c.214T>A (p.Ser72Thr) | |
2 | g.178014410T>A | CA349703924 | PDE11A | c.963A>T (p.Lys321Asn) c.213A>T (p.Lys71Asn) | |
2 | g.178014410T>C | CA430205469 | PDE11A | c.963A>G (p.Lys321=) c.213A>G (p.Lys71=) | |
2 | g.178014410T>G | CA349703925 | PDE11A | c.963A>C (p.Lys321Asn) c.213A>C (p.Lys71Asn) | |
2 | g.178014411T>A | CA349703926 | PDE11A | c.962A>T (p.Lys321Ile) c.212A>T (p.Lys71Ile) | |
2 | g.178014411T>C | CA349703927 | PDE11A | c.962A>G (p.Lys321Arg) c.212A>G (p.Lys71Arg) | |
2 | g.178014411T>G | CA349703928 | PDE11A | c.962A>C (p.Lys321Thr) c.212A>C (p.Lys71Thr) | |
2 | g.178014412T>A | CA349703929 | PDE11A | c.961A>T (p.Lys321Ter) c.211A>T (p.Lys71Ter) | |
2 | g.178014412T>C | CA349703930 | PDE11A | c.961A>G (p.Lys321Glu) c.211A>G (p.Lys71Glu) | |
2 | g.178014412T>G | CA349703931 | PDE11A | c.961A>C (p.Lys321Gln) c.211A>C (p.Lys71Gln) | |
2 | g.178014413T>A | CA430205470 | PDE11A | c.960A>T (p.Thr320=) c.210A>T (p.Thr70=) | |
2 | g.178014413T>C | CA430205471 | PDE11A | c.960A>G (p.Thr320=) c.210A>G (p.Thr70=) | gnomAD v4 |
2 | g.178014413T>G | CA430205472 | PDE11A | c.960A>C (p.Thr320=) c.210A>C (p.Thr70=) | |
2 | g.178014414G>A | CA349703932 | PDE11A | c.959C>T (p.Thr320Ile) c.209C>T (p.Thr70Ile) | gnomAD v4 |
2 | g.178014414G>C | CA349703933 | PDE11A | c.959C>G (p.Thr320Arg) c.209C>G (p.Thr70Arg) | |
2 | g.178014414G>T | CA349703934 | PDE11A | c.959C>A (p.Thr320Lys) c.209C>A (p.Thr70Lys) | |
2 | g.178014415T>A | CA349703935 | PDE11A | c.958A>T (p.Thr320Ser) c.208A>T (p.Thr70Ser) | gnomAD v4 |
2 | g.178014415T>C | CA349703936 | PDE11A | c.958A>G (p.Thr320Ala) c.208A>G (p.Thr70Ala) | |
2 | g.178014415T>G | CA349703937 | PDE11A | c.958A>C (p.Thr320Pro) c.208A>C (p.Thr70Pro) | |
2 | g.178014416C>A | CA349703938 | PDE11A | c.957G>T (p.Lys319Asn) c.207G>T (p.Lys69Asn) | COSMIC COSMIC |
2 | g.178014416C>G | CA349703939 | PDE11A | c.957G>C (p.Lys319Asn) c.207G>C (p.Lys69Asn) | |
2 | g.178014416C>T | CA430205473 | PDE11A | c.957G>A (p.Lys319=) c.207G>A (p.Lys69=) | |
2 | g.178014417T>A | CA349703940 | PDE11A | c.956A>T (p.Lys319Met) c.206A>T (p.Lys69Met) | |
2 | g.178014417T>C | CA349703941 | PDE11A | c.956A>G (p.Lys319Arg) c.206A>G (p.Lys69Arg) | |
2 | g.178014417T>G | CA349703942 | PDE11A | c.956A>C (p.Lys319Thr) c.206A>C (p.Lys69Thr) | |
2 | g.178014418T>A | CA1982155 | PDE11A | c.955A>T (p.Lys319Ter) c.205A>T (p.Lys69Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014418T>C | CA349703943 | PDE11A | c.955A>G (p.Lys319Glu) c.205A>G (p.Lys69Glu) | |
2 | g.178014418T>G | CA349703944 | PDE11A | c.955A>C (p.Lys319Gln) c.205A>C (p.Lys69Gln) | |
2 | g.178014418T= | CA1310286839 | PDE11A | c.955A= (p.Lys319=) c.205A= (p.Lys69=) | |
2 | g.178014419G>A | CA430205474 | PDE11A | c.954C>T (p.Tyr318=) c.204C>T (p.Tyr68=) | gnomAD v4 |
2 | g.178014419G>C | CA349703945 | PDE11A | c.954C>G (p.Tyr318Ter) c.204C>G (p.Tyr68Ter) | |
2 | g.178014419G>T | CA349703946 | PDE11A | c.954C>A (p.Tyr318Ter) c.204C>A (p.Tyr68Ter) | |
2 | g.178014420T>A | CA349703947 | PDE11A | c.953A>T (p.Tyr318Phe) c.203A>T (p.Tyr68Phe) | dbSNP gnomAD v4 |
2 | g.178014420T>C | CA349703948 | PDE11A | c.953A>G (p.Tyr318Cys) c.203A>G (p.Tyr68Cys) | |
2 | g.178014420T>G | CA349703949 | PDE11A | c.953A>C (p.Tyr318Ser) c.203A>C (p.Tyr68Ser) | |
2 | g.178014420T= | CA1310286840 | PDE11A | c.953A= (p.Tyr318=) c.203A= (p.Tyr68=) | |
2 | g.178014421A= | CA1310286841 | PDE11A | c.952T= (p.Tyr318=) c.202T= (p.Tyr68=) | |
2 | g.178014421A>C | CA349703952 | PDE11A | c.952T>G (p.Tyr318Asp) c.202T>G (p.Tyr68Asp) | |
2 | g.178014421A>G | CA349703951 | PDE11A | c.952T>C (p.Tyr318His) c.202T>C (p.Tyr68His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014421A>T | CA349703950 | PDE11A | c.952T>A (p.Tyr318Asn) c.202T>A (p.Tyr68Asn) | |
2 | g.178014422T>A | CA430205475 | PDE11A | c.951A>T (p.Gly317=) c.201A>T (p.Gly67=) | |
2 | g.178014422T>C | CA430205476 | PDE11A | c.951A>G (p.Gly317=) c.201A>G (p.Gly67=) | gnomAD v4 |
2 | g.178014422T>G | CA430205477 | PDE11A | c.951A>C (p.Gly317=) c.201A>C (p.Gly67=) | |
2 | g.178014423C>A | CA349703953 | PDE11A | c.950G>T (p.Gly317Val) c.200G>T (p.Gly67Val) | |
2 | g.178014423C>G | CA349703955 | PDE11A | c.950G>C (p.Gly317Ala) c.200G>C (p.Gly67Ala) | COSMIC COSMIC |
2 | g.178014423C>T | CA349703954 | PDE11A | c.950G>A (p.Gly317Glu) c.200G>A (p.Gly67Glu) | COSMIC COSMIC |
2 | g.178014424C>A | CA349703956 | PDE11A | c.949G>T (p.Gly317Ter) c.199G>T (p.Gly67Ter) | |
2 | g.178014424C>G | CA349703958 | PDE11A | c.949G>C (p.Gly317Arg) c.199G>C (p.Gly67Arg) | |
2 | g.178014424C>T | CA349703957 | PDE11A | c.949G>A (p.Gly317Arg) c.199G>A (p.Gly67Arg) | |
2 | g.178014425A= | CA1310286842 | PDE11A | c.948T= (p.Thr316=) c.198T= (p.Thr66=) | |
2 | g.178014425A>C | CA430205478 | PDE11A | c.948T>G (p.Thr316=) c.198T>G (p.Thr66=) | |
2 | g.178014425A>G | CA430205479 | PDE11A | c.948T>C (p.Thr316=) c.198T>C (p.Thr66=) | dbSNP gnomAD v4 |
2 | g.178014425A>T | CA430205480 | PDE11A | c.948T>A (p.Thr316=) c.198T>A (p.Thr66=) | |
2 | g.178014426G>A | CA349703959 | PDE11A | c.947C>T (p.Thr316Ile) c.197C>T (p.Thr66Ile) | |
2 | g.178014426G>C | CA349703961 | PDE11A | c.947C>G (p.Thr316Ser) c.197C>G (p.Thr66Ser) | |
2 | g.178014426G>T | CA349703960 | PDE11A | c.947C>A (p.Thr316Asn) c.197C>A (p.Thr66Asn) | |
2 | g.178014427T>A | CA349703962 | PDE11A | c.946A>T (p.Thr316Ser) c.196A>T (p.Thr66Ser) | |
2 | g.178014427T>C | CA349703963 | PDE11A | c.946A>G (p.Thr316Ala) c.196A>G (p.Thr66Ala) | gnomAD v4 |
2 | g.178014427T>G | CA349703964 | PDE11A | c.946A>C (p.Thr316Pro) c.196A>C (p.Thr66Pro) | |
2 | g.178014428T>A | CA430205481 | PDE11A | c.945A>T (p.Leu315=) c.195A>T (p.Leu65=) | |
2 | g.178014428T>C | CA430205482 | PDE11A | c.945A>G (p.Leu315=) c.195A>G (p.Leu65=) | |
2 | g.178014428T>G | CA430205483 | PDE11A | c.945A>C (p.Leu315=) c.195A>C (p.Leu65=) | |
2 | g.178014429A= | CA1310286843 | PDE11A | c.944T= (p.Leu315=) c.194T= (p.Leu65=) | |
2 | g.178014429A>C | CA349703965 | PDE11A | c.944T>G (p.Leu315Arg) c.194T>G (p.Leu65Arg) | dbSNP gnomAD v4 |
2 | g.178014429A>G | CA349703966 | PDE11A | c.944T>C (p.Leu315Pro) c.194T>C (p.Leu65Pro) | |
2 | g.178014429A>T | CA349703967 | PDE11A | c.944T>A (p.Leu315Gln) c.194T>A (p.Leu65Gln) | |
2 | g.178014430G>A | CA430205484 | PDE11A | c.943C>T (p.Leu315=) c.193C>T (p.Leu65=) | |
2 | g.178014430G>C | CA349703968 | PDE11A | c.943C>G (p.Leu315Val) c.193C>G (p.Leu65Val) | |
2 | g.178014430G= | CA1310286844 | PDE11A | c.943C= (p.Leu315=) c.193C= (p.Leu65=) | |
2 | g.178014430G>T | CA349703969 | PDE11A | c.943C>A (p.Leu315Ile) c.193C>A (p.Leu65Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014431del | CA2662096201 | PDE11A | c.942del (p.Lys314AsnfsTer2) c.192del (p.Lys64AsnfsTer2) | gnomAD v4 |
2 | g.178014431C>A | CA349703970 | PDE11A | c.942G>T (p.Lys314Asn) c.192G>T (p.Lys64Asn) | |
2 | g.178014431C= | CA1310286845 | PDE11A | c.942G= (p.Lys314=) c.192G= (p.Lys64=) | |
2 | g.178014431C>G | CA349703971 | PDE11A | c.942G>C (p.Lys314Asn) c.192G>C (p.Lys64Asn) | gnomAD v4 |
2 | g.178014431C>T | CA1982156 | PDE11A | c.942G>A (p.Lys314=) c.192G>A (p.Lys64=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014432T>A | CA349703974 | PDE11A | c.941A>T (p.Lys314Met) c.191A>T (p.Lys64Met) | gnomAD v4 |
2 | g.178014432T>C | CA349703972 | PDE11A | c.941A>G (p.Lys314Arg) c.191A>G (p.Lys64Arg) | |
2 | g.178014432T>G | CA349703973 | PDE11A | c.941A>C (p.Lys314Thr) c.191A>C (p.Lys64Thr) | gnomAD v4 |
2 | g.178014433T>A | CA349703975 | PDE11A | c.940A>T (p.Lys314Ter) c.190A>T (p.Lys64Ter) | |
2 | g.178014433T>C | CA349703976 | PDE11A | c.940A>G (p.Lys314Glu) c.190A>G (p.Lys64Glu) | |
2 | g.178014433T>G | CA349703977 | PDE11A | c.940A>C (p.Lys314Gln) c.190A>C (p.Lys64Gln) | |
2 | g.178014434G>A | CA430205485 | PDE11A | c.939C>T (p.Asp313=) c.189C>T (p.Asp63=) | |
2 | g.178014434G>C | CA349703978 | PDE11A | c.939C>G (p.Asp313Glu) c.189C>G (p.Asp63Glu) | |
2 | g.178014434G>T | CA349703979 | PDE11A | c.939C>A (p.Asp313Glu) c.189C>A (p.Asp63Glu) | |
2 | g.178014434dup | CA2662096202 | PDE11A | c.939dup (p.Lys314GlnfsTer19) c.189dup (p.Lys64GlnfsTer19) | gnomAD v4 |
2 | g.178014435T>A | CA349703980 | PDE11A | c.938A>T (p.Asp313Val) c.188A>T (p.Asp63Val) | |
2 | g.178014435T>C | CA349703981 | PDE11A | c.938A>G (p.Asp313Gly) c.188A>G (p.Asp63Gly) | gnomAD v4 |
2 | g.178014435T>G | CA349703982 | PDE11A | c.938A>C (p.Asp313Ala) c.188A>C (p.Asp63Ala) | |
2 | g.178014435_178014436insG | CA2662096203 | PDE11A | c.937_938insC (p.Asp313AlafsTer20) c.187_188insC (p.Asp63AlafsTer20) | gnomAD v4 |
2 | g.178014436C>A | CA349703983 | PDE11A | c.937G>T (p.Asp313Tyr) c.187G>T (p.Asp63Tyr) | dbSNP gnomAD v4 |
2 | g.178014436C= | CA1310286846 | PDE11A | c.937G= (p.Asp313=) c.187G= (p.Asp63=) | |
2 | g.178014436C>G | CA349703984 | PDE11A | c.937G>C (p.Asp313His) c.187G>C (p.Asp63His) | |
2 | g.178014436C>T | CA349703985 | PDE11A | c.937G>A (p.Asp313Asn) c.187G>A (p.Asp63Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.178014437G>A | CA1982157 | PDE11A | c.936C>T (p.Ile312=) c.186C>T (p.Ile62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014437G>C | CA349703986 | PDE11A | c.936C>G (p.Ile312Met) c.186C>G (p.Ile62Met) | |
2 | g.178014437G= | CA1310286847 | PDE11A | c.936C= (p.Ile312=) c.186C= (p.Ile62=) | |
2 | g.178014437G>T | CA430205486 | PDE11A | c.936C>A (p.Ile312=) c.186C>A (p.Ile62=) | |
2 | g.178014438A>C | CA349703987 | PDE11A | c.935T>G (p.Ile312Ser) c.185T>G (p.Ile62Ser) | |
2 | g.178014438A>G | CA349703988 | PDE11A | c.935T>C (p.Ile312Thr) c.185T>C (p.Ile62Thr) | |
2 | g.178014438A>T | CA349703989 | PDE11A | c.935T>A (p.Ile312Asn) c.185T>A (p.Ile62Asn) | |
2 | g.178014439T>A | CA349703990 | PDE11A | c.934A>T (p.Ile312Phe) c.184A>T (p.Ile62Phe) | |
2 | g.178014439T>C | CA1982158 | PDE11A | c.934A>G (p.Ile312Val) c.184A>G (p.Ile62Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014439T>G | CA349703991 | PDE11A | c.934A>C (p.Ile312Leu) c.184A>C (p.Ile62Leu) | COSMIC COSMIC |
2 | g.178014439T= | CA1310286848 | PDE11A | c.934A= (p.Ile312=) c.184A= (p.Ile62=) | |
2 | g.178014440T>A | CA349703992 | PDE11A | c.933A>T (p.Glu311Asp) c.183A>T (p.Glu61Asp) | |
2 | g.178014440T>C | CA430205487 | PDE11A | c.933A>G (p.Glu311=) c.183A>G (p.Glu61=) | |
2 | g.178014440T>G | CA349703993 | PDE11A | c.933A>C (p.Glu311Asp) c.183A>C (p.Glu61Asp) | |
2 | g.178014441T>A | CA349703994 | PDE11A | c.932A>T (p.Glu311Val) c.182A>T (p.Glu61Val) | |
2 | g.178014441T>C | CA349703995 | PDE11A | c.932A>G (p.Glu311Gly) c.182A>G (p.Glu61Gly) | |
2 | g.178014441T>G | CA349703996 | PDE11A | c.932A>C (p.Glu311Ala) c.182A>C (p.Glu61Ala) | |
2 | g.178014442C>A | CA349703997 | PDE11A | c.931G>T (p.Glu311Ter) c.181G>T (p.Glu61Ter) | |
2 | g.178014442C>G | CA349703998 | PDE11A | c.931G>C (p.Glu311Gln) c.181G>C (p.Glu61Gln) | |
2 | g.178014442C>T | CA349703999 | PDE11A | c.931G>A (p.Glu311Lys) c.181G>A (p.Glu61Lys) | |
2 | g.178014443A>C | CA349704000 | PDE11A | c.930T>G (p.Asp310Glu) c.180T>G (p.Asp60Glu) | gnomAD v4 |
2 | g.178014443A>G | CA430205488 | PDE11A | c.930T>C (p.Asp310=) c.180T>C (p.Asp60=) | |
2 | g.178014443A>T | CA349704001 | PDE11A | c.930T>A (p.Asp310Glu) c.180T>A (p.Asp60Glu) | |
2 | g.178014444T>A | CA349704002 | PDE11A | c.929A>T (p.Asp310Val) c.179A>T (p.Asp60Val) | |
2 | g.178014444T>C | CA349704003 | PDE11A | c.929A>G (p.Asp310Gly) c.179A>G (p.Asp60Gly) | |
2 | g.178014444T>G | CA349704004 | PDE11A | c.929A>C (p.Asp310Ala) c.179A>C (p.Asp60Ala) | |
2 | g.178014445C>A | CA349704005 | PDE11A | c.928G>T (p.Asp310Tyr) c.178G>T (p.Asp60Tyr) | gnomAD v4 |
2 | g.178014445C>G | CA349704006 | PDE11A | c.928G>C (p.Asp310His) c.178G>C (p.Asp60His) | |
2 | g.178014445C>T | CA349704007 | PDE11A | c.928G>A (p.Asp310Asn) c.178G>A (p.Asp60Asn) | COSMIC COSMIC |
2 | g.178014446A= | CA1310286849 | PDE11A | c.927T= (p.Asn309=) c.177T= (p.Asn59=) | |
2 | g.178014446A>C | CA349704008 | PDE11A | c.927T>G (p.Asn309Lys) c.177T>G (p.Asn59Lys) | |
2 | g.178014446A>G | CA430205489 | PDE11A | c.927T>C (p.Asn309=) c.177T>C (p.Asn59=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014446A>T | CA349704009 | PDE11A | c.927T>A (p.Asn309Lys) c.177T>A (p.Asn59Lys) | |
2 | g.178014447T>A | CA349704010 | PDE11A | c.926A>T (p.Asn309Ile) c.176A>T (p.Asn59Ile) | |
2 | g.178014447T>C | CA1982159 | PDE11A | c.926A>G (p.Asn309Ser) c.176A>G (p.Asn59Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014447T>G | CA349704011 | PDE11A | c.926A>C (p.Asn309Thr) c.176A>C (p.Asn59Thr) | |
2 | g.178014447T= | CA1310286850 | PDE11A | c.926A= (p.Asn309=) c.176A= (p.Asn59=) | |
2 | g.178014448del | CA2662096204 | PDE11A | c.926del (p.Asn309MetfsTer7) c.176del (p.Asn59MetfsTer7) | gnomAD v4 |
2 | g.178014448T>A | CA349704014 | PDE11A | c.925A>T (p.Asn309Tyr) c.175A>T (p.Asn59Tyr) | |
2 | g.178014448T>C | CA349704013 | PDE11A | c.925A>G (p.Asn309Asp) c.175A>G (p.Asn59Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014448T>G | CA349704012 | PDE11A | c.925A>C (p.Asn309His) c.175A>C (p.Asn59His) | dbSNP |
2 | g.178014448T= | CA1310286851 | PDE11A | c.925A= (p.Asn309=) c.175A= (p.Asn59=) | |
2 | g.178014449G>A | CA430205490 | PDE11A | c.924C>T (p.Phe308=) c.174C>T (p.Phe58=) | |
2 | g.178014449G>C | CA349704015 | PDE11A | c.924C>G (p.Phe308Leu) c.174C>G (p.Phe58Leu) | |
2 | g.178014449G>T | CA349704016 | PDE11A | c.924C>A (p.Phe308Leu) c.174C>A (p.Phe58Leu) | |
2 | g.178014450A>C | CA349704017 | PDE11A | c.923T>G (p.Phe308Cys) c.173T>G (p.Phe58Cys) | |
2 | g.178014450A>G | CA349704018 | PDE11A | c.923T>C (p.Phe308Ser) c.173T>C (p.Phe58Ser) | |
2 | g.178014450A>T | CA349704019 | PDE11A | c.923T>A (p.Phe308Tyr) c.173T>A (p.Phe58Tyr) | |
2 | g.178014451A>C | CA349704020 | PDE11A | c.922T>G (p.Phe308Val) c.172T>G (p.Phe58Val) | |
2 | g.178014451A>G | CA349704021 | PDE11A | c.922T>C (p.Phe308Leu) c.172T>C (p.Phe58Leu) | COSMIC COSMIC |
2 | g.178014451A>T | CA349704022 | PDE11A | c.922T>A (p.Phe308Ile) c.172T>A (p.Phe58Ile) | |
2 | g.178014452T>A | CA430205493 | PDE11A | c.921A>T (p.Arg307=) c.171A>T (p.Arg57=) | gnomAD v4 |
2 | g.178014452T>C | CA430205492 | PDE11A | c.921A>G (p.Arg307=) c.171A>G (p.Arg57=) | |
2 | g.178014452T>G | CA430205491 | PDE11A | c.921A>C (p.Arg307=) c.171A>C (p.Arg57=) | gnomAD v4 |
2 | g.178014453C>A | CA1982161 | PDE11A | c.920G>T (p.Arg307Leu) c.170G>T (p.Arg57Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014453C= | CA1310286852 | PDE11A | c.920G= (p.Arg307=) c.170G= (p.Arg57=) | |
2 | g.178014453C>G | CA349704023 | PDE11A | c.920G>C (p.Arg307Pro) c.170G>C (p.Arg57Pro) | |
2 | g.178014453C>T | CA1982160 | PDE11A | c.920G>A (p.Arg307Gln) c.170G>A (p.Arg57Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014454G>A | CA117375 | PDE11A | c.919C>T (p.Arg307Ter) c.169C>T (p.Arg57Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014454G>C | CA349704024 | PDE11A | c.919C>G (p.Arg307Gly) c.169C>G (p.Arg57Gly) | |
2 | g.178014454G= | CA1310286853 | PDE11A | c.919C= (p.Arg307=) c.169C= (p.Arg57=) | |
2 | g.178014454G>T | CA430205494 | PDE11A | c.919C>A (p.Arg307=) c.169C>A (p.Arg57=) | |
2 | g.178014455T>A | CA430205495 | PDE11A | c.918A>T (p.Arg306=) c.168A>T (p.Arg56=) | |
2 | g.178014455T>C | CA430205496 | PDE11A | c.918A>G (p.Arg306=) c.168A>G (p.Arg56=) | COSMIC COSMIC |
2 | g.178014455T>G | CA430205497 | PDE11A | c.918A>C (p.Arg306=) c.168A>C (p.Arg56=) | COSMIC COSMIC |
2 | g.178014456C>A | CA349704025 | PDE11A | c.917G>T (p.Arg306Leu) c.167G>T (p.Arg56Leu) | |
2 | g.178014456C= | CA1310286854 | PDE11A | c.917G= (p.Arg306=) c.167G= (p.Arg56=) | |
2 | g.178014456C>G | CA349704026 | PDE11A | c.917G>C (p.Arg306Pro) c.167G>C (p.Arg56Pro) | |
2 | g.178014456C>T | CA1982162 | PDE11A | c.917G>A (p.Arg306Gln) c.167G>A (p.Arg56Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014457G>A | CA1982163 | PDE11A | c.916C>T (p.Arg306Ter) c.166C>T (p.Arg56Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014457G>C | CA349704027 | PDE11A | c.916C>G (p.Arg306Gly) c.166C>G (p.Arg56Gly) | |
2 | g.178014457G= | CA1310286855 | PDE11A | c.916C= (p.Arg306=) c.166C= (p.Arg56=) | |
2 | g.178014457G>T | CA430205498 | PDE11A | c.916C>A (p.Arg306=) c.166C>A (p.Arg56=) | gnomAD v4 |
2 | g.178014458A>C | CA349704028 | PDE11A | c.915T>G (p.Asp305Glu) c.165T>G (p.Asp55Glu) | |
2 | g.178014458A>G | CA430205499 | PDE11A | c.915T>C (p.Asp305=) c.165T>C (p.Asp55=) | |
2 | g.178014458A>T | CA349704029 | PDE11A | c.915T>A (p.Asp305Glu) c.165T>A (p.Asp55Glu) | |
2 | g.178014459T>A | CA349704030 | PDE11A | c.914A>T (p.Asp305Val) c.164A>T (p.Asp55Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014459T>C | CA349704031 | PDE11A | c.914A>G (p.Asp305Gly) c.164A>G (p.Asp55Gly) | |
2 | g.178014459T>G | CA349704032 | PDE11A | c.914A>C (p.Asp305Ala) c.164A>C (p.Asp55Ala) | |
2 | g.178014459T= | CA1310286856 | PDE11A | c.914A= (p.Asp305=) c.164A= (p.Asp55=) | |
2 | g.178014460C>A | CA349704033 | PDE11A | c.913G>T (p.Asp305Tyr) c.163G>T (p.Asp55Tyr) | gnomAD v4 |
2 | g.178014460C>G | CA349704034 | PDE11A | c.913G>C (p.Asp305His) c.163G>C (p.Asp55His) | |
2 | g.178014460C>T | CA349704035 | PDE11A | c.913G>A (p.Asp305Asn) c.163G>A (p.Asp55Asn) | gnomAD v4 COSMIC COSMIC |
2 | g.178014461C>A | CA349704036 | PDE11A | c.913-1G>T (n.913-1G>T) c.163-1G>T (n.163-1G>T) | |
2 | g.178014461C>G | CA349704037 | PDE11A | c.913-1G>C (n.913-1G>C) c.163-1G>C (n.163-1G>C) | |
2 | g.178014461C>T | CA349704038 | PDE11A | c.913-1G>A (n.913-1G>A) c.163-1G>A (n.163-1G>A) | |
2 | g.178014462T>A | CA349704041 | PDE11A | c.913-2A>T (n.913-2A>T) c.163-2A>T (n.163-2A>T) | |
2 | g.178014462T>C | CA349704040 | PDE11A | c.913-2A>G (n.913-2A>G) c.163-2A>G (n.163-2A>G) | dbSNP gnomAD v4 |
2 | g.178014462T>G | CA349704039 | PDE11A | c.913-2A>C (n.913-2A>C) c.163-2A>C (n.163-2A>C) | |
2 | g.178014462T= | CA1310286857 | PDE11A | c.913-2A= (n.913-2A=) c.163-2A= (n.163-2A=) | |
2 | g.178014463A= | CA1310286858 | PDE11A | c.913-3T= (n.913-3T=) c.163-3T= (n.163-3T=) | |
2 | g.178014463A>G | CA538439765 | PDE11A | c.913-3T>C (n.913-3T>C) c.163-3T>C (n.163-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014465A= | CA1310286859 | PDE11A | c.913-5T= (n.913-5T=) c.163-5T= (n.163-5T=) | |
2 | g.178014465A>G | CA1982164 | PDE11A | c.913-5T>C (n.913-5T>C) c.163-5T>C (n.163-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |