Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178014356G>ACA430205435PDE11Ac.1017C>T (p.Ala339=)
c.267C>T (p.Ala89=)
 dbSNP
2g.178014356G>CCA430205436PDE11Ac.1017C>G (p.Ala339=)
c.267C>G (p.Ala89=)
2g.178014356G=CA1310286817PDE11Ac.1017C= (p.Ala339=)
c.267C= (p.Ala89=)
2g.178014356G>TCA430205437PDE11Ac.1017C>A (p.Ala339=)
c.267C>A (p.Ala89=)
 dbSNP
2g.178014357G>ACA349703808PDE11Ac.1016C>T (p.Ala339Val)
c.266C>T (p.Ala89Val)
 gnomAD v4
2g.178014357G>CCA349703809PDE11Ac.1016C>G (p.Ala339Gly)
c.266C>G (p.Ala89Gly)
2g.178014357G>TCA349703810PDE11Ac.1016C>A (p.Ala339Asp)
c.266C>A (p.Ala89Asp)
2g.178014358C>ACA349703811PDE11Ac.1015G>T (p.Ala339Ser)
c.265G>T (p.Ala89Ser)
2g.178014358C>GCA349703812PDE11Ac.1015G>C (p.Ala339Pro)
c.265G>C (p.Ala89Pro)
2g.178014358C>TCA349703813PDE11Ac.1015G>A (p.Ala339Thr)
c.265G>A (p.Ala89Thr)
2g.178014359C>ACA430205438PDE11Ac.1014G>T (p.Val338=)
c.264G>T (p.Val88=)
 dbSNP gnomAD v4
2g.178014359C=CA1310286818PDE11Ac.1014G= (p.Val338=)
c.264G= (p.Val88=)
2g.178014359C>GCA430205439PDE11Ac.1014G>C (p.Val338=)
c.264G>C (p.Val88=)
 dbSNP gnomAD v2 gnomAD v4
2g.178014359C>TCA430205440PDE11Ac.1014G>A (p.Val338=)
c.264G>A (p.Val88=)
2g.178014360A>CCA349703814PDE11Ac.1013T>G (p.Val338Gly)
c.263T>G (p.Val88Gly)
2g.178014360A>GCA349703815PDE11Ac.1013T>C (p.Val338Ala)
c.263T>C (p.Val88Ala)
2g.178014360A>TCA349703816PDE11Ac.1013T>A (p.Val338Glu)
c.263T>A (p.Val88Glu)
2g.178014361C>ACA349703817PDE11Ac.1012G>T (p.Val338Leu)
c.262G>T (p.Val88Leu)
 dbSNP
2g.178014361C=CA1310286819PDE11Ac.1012G= (p.Val338=)
c.262G= (p.Val88=)
2g.178014361C>GCA349703818PDE11Ac.1012G>C (p.Val338Leu)
c.262G>C (p.Val88Leu)
2g.178014361C>TCA349703819PDE11Ac.1012G>A (p.Val338Met)
c.262G>A (p.Val88Met)
2g.178014362A=CA1310286820PDE11Ac.1011T= (p.Gly337=)
c.261T= (p.Gly87=)
2g.178014362A>CCA430205441PDE11Ac.1011T>G (p.Gly337=)
c.261T>G (p.Gly87=)
2g.178014362A>GCA430205442PDE11Ac.1011T>C (p.Gly337=)
c.261T>C (p.Gly87=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.178014362A>TCA430205443PDE11Ac.1011T>A (p.Gly337=)
c.261T>A (p.Gly87=)
2g.178014363C>ACA349703821PDE11Ac.1010G>T (p.Gly337Val)
c.260G>T (p.Gly87Val)
2g.178014363C=CA1310286821PDE11Ac.1010G= (p.Gly337=)
c.260G= (p.Gly87=)
2g.178014363C>GCA349703822PDE11Ac.1010G>C (p.Gly337Ala)
c.260G>C (p.Gly87Ala)
 COSMIC COSMIC
2g.178014363C>TCA349703820PDE11Ac.1010G>A (p.Gly337Asp)
c.260G>A (p.Gly87Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178014364C>ACA349703823PDE11Ac.1009G>T (p.Gly337Cys)
c.259G>T (p.Gly87Cys)
2g.178014364C>GCA349703824PDE11Ac.1009G>C (p.Gly337Arg)
c.259G>C (p.Gly87Arg)
2g.178014364C>TCA349703825PDE11Ac.1009G>A (p.Gly337Ser)
c.259G>A (p.Gly87Ser)
2g.178014365A>CCA349703826PDE11Ac.1008T>G (p.Ile336Met)
c.258T>G (p.Ile86Met)
 gnomAD v4
2g.178014365A>GCA430205444PDE11Ac.1008T>C (p.Ile336=)
c.258T>C (p.Ile86=)
2g.178014365A>TCA430205445PDE11Ac.1008T>A (p.Ile336=)
c.258T>A (p.Ile86=)
2g.178014366A>CCA349703827PDE11Ac.1007T>G (p.Ile336Ser)
c.257T>G (p.Ile86Ser)
2g.178014366A>GCA349703828PDE11Ac.1007T>C (p.Ile336Thr)
c.257T>C (p.Ile86Thr)
2g.178014366A>TCA349703829PDE11Ac.1007T>A (p.Ile336Asn)
c.257T>A (p.Ile86Asn)
2g.178014367T>ACA349703830PDE11Ac.1006A>T (p.Ile336Phe)
c.256A>T (p.Ile86Phe)
2g.178014367T>CCA349703832PDE11Ac.1006A>G (p.Ile336Val)
c.256A>G (p.Ile86Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178014367T>GCA349703831PDE11Ac.1006A>C (p.Ile336Leu)
c.256A>C (p.Ile86Leu)
2g.178014367T=CA1310286822PDE11Ac.1006A= (p.Ile336=)
c.256A= (p.Ile86=)
2g.178014368A>CCA349703833PDE11Ac.1005T>G (p.Ile335Met)
c.255T>G (p.Ile85Met)
2g.178014368A>GCA430205446PDE11Ac.1005T>C (p.Ile335=)
c.255T>C (p.Ile85=)
2g.178014368A>TCA430205447PDE11Ac.1005T>A (p.Ile335=)
c.255T>A (p.Ile85=)
2g.178014369A=CA1310286823PDE11Ac.1004T= (p.Ile335=)
c.254T= (p.Ile85=)
2g.178014369A>CCA349703834PDE11Ac.1004T>G (p.Ile335Ser)
c.254T>G (p.Ile85Ser)
2g.178014369A>GCA1982144PDE11Ac.1004T>C (p.Ile335Thr)
c.254T>C (p.Ile85Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014369A>TCA349703835PDE11Ac.1004T>A (p.Ile335Asn)
c.254T>A (p.Ile85Asn)
2g.178014370T>ACA349703838PDE11Ac.1003A>T (p.Ile335Phe)
c.253A>T (p.Ile85Phe)
2g.178014370T>CCA349703837PDE11Ac.1003A>G (p.Ile335Val)
c.253A>G (p.Ile85Val)
2g.178014370T>GCA349703836PDE11Ac.1003A>C (p.Ile335Leu)
c.253A>C (p.Ile85Leu)
2g.178014371C>ACA349703839PDE11Ac.1002G>T (p.Glu334Asp)
c.252G>T (p.Glu84Asp)
2g.178014371C>GCA349703840PDE11Ac.1002G>C (p.Glu334Asp)
c.252G>C (p.Glu84Asp)
2g.178014371C>TCA430205448PDE11Ac.1002G>A (p.Glu334=)
c.252G>A (p.Glu84=)
2g.178014372T>ACA349703841PDE11Ac.1001A>T (p.Glu334Val)
c.251A>T (p.Glu84Val)
2g.178014372T>CCA349703843PDE11Ac.1001A>G (p.Glu334Gly)
c.251A>G (p.Glu84Gly)
2g.178014372T>GCA349703842PDE11Ac.1001A>C (p.Glu334Ala)
c.251A>C (p.Glu84Ala)
2g.178014373C>ACA1982145PDE11Ac.1000G>T (p.Glu334Ter)
c.250G>T (p.Glu84Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014373C=CA1310286824PDE11Ac.1000G= (p.Glu334=)
c.250G= (p.Glu84=)
2g.178014373C>GCA349703844PDE11Ac.1000G>C (p.Glu334Gln)
c.250G>C (p.Glu84Gln)
2g.178014373C>TCA61449350PDE11Ac.1000G>A (p.Glu334Lys)
c.250G>A (p.Glu84Lys)
 dbSNP gnomAD v4
2g.178014374A>CCA430205449PDE11Ac.999T>G (p.Gly333=)
c.249T>G (p.Gly83=)
 gnomAD v4
2g.178014374A>GCA430205450PDE11Ac.999T>C (p.Gly333=)
c.249T>C (p.Gly83=)
2g.178014374A>TCA430205451PDE11Ac.999T>A (p.Gly333=)
c.249T>A (p.Gly83=)
2g.178014375C>ACA349703845PDE11Ac.998G>T (p.Gly333Val)
c.248G>T (p.Gly83Val)
2g.178014375C>GCA349703846PDE11Ac.998G>C (p.Gly333Ala)
c.248G>C (p.Gly83Ala)
2g.178014375C>TCA349703847PDE11Ac.998G>A (p.Gly333Asp)
c.248G>A (p.Gly83Asp)
2g.178014376C>ACA349703848PDE11Ac.997G>T (p.Gly333Cys)
c.247G>T (p.Gly83Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178014376C=CA1310286825PDE11Ac.997G= (p.Gly333=)
c.247G= (p.Gly83=)
2g.178014376C>GCA349703849PDE11Ac.997G>C (p.Gly333Arg)
c.247G>C (p.Gly83Arg)
2g.178014376C>TCA349703850PDE11Ac.997G>A (p.Gly333Ser)
c.247G>A (p.Gly83Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178014377A>CCA349703851PDE11Ac.996T>G (p.Asp332Glu)
c.246T>G (p.Asp82Glu)
2g.178014377A>GCA430205452PDE11Ac.996T>C (p.Asp332=)
c.246T>C (p.Asp82=)
 gnomAD v4
2g.178014377A>TCA349703852PDE11Ac.996T>A (p.Asp332Glu)
c.246T>A (p.Asp82Glu)
2g.178014378T>ACA349703855PDE11Ac.995A>T (p.Asp332Val)
c.245A>T (p.Asp82Val)
2g.178014378T>CCA349703853PDE11Ac.995A>G (p.Asp332Gly)
c.245A>G (p.Asp82Gly)
2g.178014378T>GCA349703854PDE11Ac.995A>C (p.Asp332Ala)
c.245A>C (p.Asp82Ala)
2g.178014379C>ACA349703856PDE11Ac.994G>T (p.Asp332Tyr)
c.244G>T (p.Asp82Tyr)
2g.178014379C>GCA349703857PDE11Ac.994G>C (p.Asp332His)
c.244G>C (p.Asp82His)
2g.178014379C>TCA349703858PDE11Ac.994G>A (p.Asp332Asn)
c.244G>A (p.Asp82Asn)
2g.178014380A>CCA349703859PDE11Ac.993T>G (p.Ser331Arg)
c.243T>G (p.Ser81Arg)
2g.178014380A>GCA430205453PDE11Ac.993T>C (p.Ser331=)
c.243T>C (p.Ser81=)
 gnomAD v4
2g.178014380A>TCA349703860PDE11Ac.993T>A (p.Ser331Arg)
c.243T>A (p.Ser81Arg)
2g.178014381C>ACA349703861PDE11Ac.992G>T (p.Ser331Ile)
c.242G>T (p.Ser81Ile)
2g.178014381C>GCA349703862PDE11Ac.992G>C (p.Ser331Thr)
c.242G>C (p.Ser81Thr)
2g.178014381C>TCA349703863PDE11Ac.992G>A (p.Ser331Asn)
c.242G>A (p.Ser81Asn)
 gnomAD v4
2g.178014382T>ACA349703864PDE11Ac.991A>T (p.Ser331Cys)
c.241A>T (p.Ser81Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178014382T>CCA349703865PDE11Ac.991A>G (p.Ser331Gly)
c.241A>G (p.Ser81Gly)
2g.178014382T>GCA349703866PDE11Ac.991A>C (p.Ser331Arg)
c.241A>C (p.Ser81Arg)
2g.178014382T=CA1310286826PDE11Ac.991A= (p.Ser331=)
c.241A= (p.Ser81=)
2g.178014383G>ACA430205454PDE11Ac.990C>T (p.Ser330=)
c.240C>T (p.Ser80=)
2g.178014383G>CCA349703868PDE11Ac.990C>G (p.Ser330Arg)
c.240C>G (p.Ser80Arg)
2g.178014383G>TCA349703867PDE11Ac.990C>A (p.Ser330Arg)
c.240C>A (p.Ser80Arg)
2g.178014384C>ACA349703869PDE11Ac.989G>T (p.Ser330Ile)
c.239G>T (p.Ser80Ile)
2g.178014384C>GCA349703870PDE11Ac.989G>C (p.Ser330Thr)
c.239G>C (p.Ser80Thr)
2g.178014384C>TCA349703871PDE11Ac.989G>A (p.Ser330Asn)
c.239G>A (p.Ser80Asn)
2g.178014385T>ACA349703872PDE11Ac.988A>T (p.Ser330Cys)
c.238A>T (p.Ser80Cys)
2g.178014385T>CCA349703873PDE11Ac.988A>G (p.Ser330Gly)
c.238A>G (p.Ser80Gly)
2g.178014385T>GCA349703874PDE11Ac.988A>C (p.Ser330Arg)
c.238A>C (p.Ser80Arg)
2g.178014386T>ACA430205455PDE11Ac.987A>T (p.Arg329=)
c.237A>T (p.Arg79=)
2g.178014386T>CCA430205456PDE11Ac.987A>G (p.Arg329=)
c.237A>G (p.Arg79=)
2g.178014386T>GCA430205457PDE11Ac.987A>C (p.Arg329=)
c.237A>C (p.Arg79=)
 dbSNP gnomAD v2 gnomAD v4
2g.178014386T=CA1310286827PDE11Ac.987A= (p.Arg329=)
c.237A= (p.Arg79=)
2g.178014387C>ACA349703875PDE11Ac.986G>T (p.Arg329Leu)
c.236G>T (p.Arg79Leu)
2g.178014387C=CA1310286828PDE11Ac.986G= (p.Arg329=)
c.236G= (p.Arg79=)
2g.178014387C>GCA349703876PDE11Ac.986G>C (p.Arg329Pro)
c.236G>C (p.Arg79Pro)
2g.178014387C>TCA1982146PDE11Ac.986G>A (p.Arg329Gln)
c.236G>A (p.Arg79Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.178014388G>ACA1982147PDE11Ac.985C>T (p.Arg329Ter)
c.235C>T (p.Arg79Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014388G>CCA349703877PDE11Ac.985C>G (p.Arg329Gly)
c.235C>G (p.Arg79Gly)
2g.178014388G=CA1310286829PDE11Ac.985C= (p.Arg329=)
c.235C= (p.Arg79=)
2g.178014388G>TCA430205458PDE11Ac.985C>A (p.Arg329=)
c.235C>A (p.Arg79=)
2g.178014389G>ACA1982148PDE11Ac.984C>T (p.Ile328=)
c.234C>T (p.Ile78=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014389G>CCA349703878PDE11Ac.984C>G (p.Ile328Met)
c.234C>G (p.Ile78Met)
2g.178014389G=CA1310286830PDE11Ac.984C= (p.Ile328=)
c.234C= (p.Ile78=)
2g.178014389G>TCA430205459PDE11Ac.984C>A (p.Ile328=)
c.234C>A (p.Ile78=)
2g.178014390A>CCA349703881PDE11Ac.983T>G (p.Ile328Ser)
c.233T>G (p.Ile78Ser)
2g.178014390A>GCA349703879PDE11Ac.983T>C (p.Ile328Thr)
c.233T>C (p.Ile78Thr)
2g.178014390A>TCA349703880PDE11Ac.983T>A (p.Ile328Asn)
c.233T>A (p.Ile78Asn)
2g.178014391T>ACA349703882PDE11Ac.982A>T (p.Ile328Phe)
c.232A>T (p.Ile78Phe)
2g.178014391T>CCA349703883PDE11Ac.982A>G (p.Ile328Val)
c.232A>G (p.Ile78Val)
 dbSNP gnomAD v2 gnomAD v4
2g.178014391T>GCA349703884PDE11Ac.982A>C (p.Ile328Leu)
c.232A>C (p.Ile78Leu)
2g.178014391T=CA1310286831PDE11Ac.982A= (p.Ile328=)
c.232A= (p.Ile78=)
2g.178014392A>CCA430205460PDE11Ac.981T>G (p.Pro327=)
c.231T>G (p.Pro77=)
2g.178014392A>GCA430205461PDE11Ac.981T>C (p.Pro327=)
c.231T>C (p.Pro77=)
2g.178014392A>TCA430205462PDE11Ac.981T>A (p.Pro327=)
c.231T>A (p.Pro77=)
2g.178014393G>ACA1982149PDE11Ac.980C>T (p.Pro327Leu)
c.230C>T (p.Pro77Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014393G>CCA1982150PDE11Ac.980C>G (p.Pro327Arg)
c.230C>G (p.Pro77Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014393G=CA1310286832PDE11Ac.980C= (p.Pro327=)
c.230C= (p.Pro77=)
2g.178014393G>TCA349703885PDE11Ac.980C>A (p.Pro327His)
c.230C>A (p.Pro77His)
2g.178014394G>ACA349703886PDE11Ac.979C>T (p.Pro327Ser)
c.229C>T (p.Pro77Ser)
2g.178014394G>CCA349703887PDE11Ac.979C>G (p.Pro327Ala)
c.229C>G (p.Pro77Ala)
2g.178014394G>TCA349703888PDE11Ac.979C>A (p.Pro327Thr)
c.229C>A (p.Pro77Thr)
2g.178014398_178014499dupCA2662096199PDE11Ac.913-35_979dup
c.163-35_229dup
 gnomAD v4
2g.178014395C>ACA349703889PDE11Ac.978G>T (p.Met326Ile)
c.228G>T (p.Met76Ile)
2g.178014395C=CA1310286833PDE11Ac.978G= (p.Met326=)
c.228G= (p.Met76=)
2g.178014395C>GCA349703890PDE11Ac.978G>C (p.Met326Ile)
c.228G>C (p.Met76Ile)
2g.178014395C>TCA349703891PDE11Ac.978G>A (p.Met326Ile)
c.228G>A (p.Met76Ile)
 dbSNP gnomAD v4
2g.178014396A>CCA349703893PDE11Ac.977T>G (p.Met326Arg)
c.227T>G (p.Met76Arg)
2g.178014396A>GCA349703894PDE11Ac.977T>C (p.Met326Thr)
c.227T>C (p.Met76Thr)
2g.178014396A>TCA349703892PDE11Ac.977T>A (p.Met326Lys)
c.227T>A (p.Met76Lys)
2g.178014397T>ACA349703895PDE11Ac.976A>T (p.Met326Leu)
c.226A>T (p.Met76Leu)
2g.178014397T>CCA349703896PDE11Ac.976A>G (p.Met326Val)
c.226A>G (p.Met76Val)
2g.178014397T>GCA1982151PDE11Ac.976A>C (p.Met326Leu)
c.226A>C (p.Met76Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014397T=CA1310286834PDE11Ac.976A= (p.Met326=)
c.226A= (p.Met76=)
2g.178014398G>ACA1982152PDE11Ac.975C>T (p.Cys325=)
c.225C>T (p.Cys75=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.178014398G>CCA349703897PDE11Ac.975C>G (p.Cys325Trp)
c.225C>G (p.Cys75Trp)
2g.178014398G=CA1310286835PDE11Ac.975C= (p.Cys325=)
c.225C= (p.Cys75=)
2g.178014398G>TCA349703898PDE11Ac.975C>A (p.Cys325Ter)
c.225C>A (p.Cys75Ter)
 dbSNP
2g.178014399C>ACA349703900PDE11Ac.974G>T (p.Cys325Phe)
c.224G>T (p.Cys75Phe)
 gnomAD v4
2g.178014399C=CA1310286836PDE11Ac.974G= (p.Cys325=)
c.224G= (p.Cys75=)
2g.178014399C>GCA349703899PDE11Ac.974G>C (p.Cys325Ser)
c.224G>C (p.Cys75Ser)
2g.178014399C>TCA1982153PDE11Ac.974G>A (p.Cys325Tyr)
c.224G>A (p.Cys75Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014400A>CCA349703901PDE11Ac.973T>G (p.Cys325Gly)
c.223T>G (p.Cys75Gly)
2g.178014400A>GCA349703902PDE11Ac.973T>C (p.Cys325Arg)
c.223T>C (p.Cys75Arg)
2g.178014400A>TCA349703903PDE11Ac.973T>A (p.Cys325Ser)
c.223T>A (p.Cys75Ser)
2g.178014401C>ACA349703904PDE11Ac.972G>T (p.Leu324Phe)
c.222G>T (p.Leu74Phe)
2g.178014401C=CA1310286837PDE11Ac.972G= (p.Leu324=)
c.222G= (p.Leu74=)
2g.178014401C>GCA349703905PDE11Ac.972G>C (p.Leu324Phe)
c.222G>C (p.Leu74Phe)
2g.178014401C>TCA430205463PDE11Ac.972G>A (p.Leu324=)
c.222G>A (p.Leu74=)
 dbSNP
2g.178014402A>CCA349703908PDE11Ac.971T>G (p.Leu324Trp)
c.221T>G (p.Leu74Trp)
2g.178014402A>GCA349703906PDE11Ac.971T>C (p.Leu324Ser)
c.221T>C (p.Leu74Ser)
2g.178014402A>TCA349703907PDE11Ac.971T>A (p.Leu324Ter)
c.221T>A (p.Leu74Ter)
2g.178014403A>CCA349703909PDE11Ac.970T>G (p.Leu324Val)
c.220T>G (p.Leu74Val)
2g.178014403A>GCA430205464PDE11Ac.970T>C (p.Leu324=)
c.220T>C (p.Leu74=)
2g.178014403A>TCA349703910PDE11Ac.970T>A (p.Leu324Met)
c.220T>A (p.Leu74Met)
2g.178014404T>ACA349703911PDE11Ac.969A>T (p.Leu323Phe)
c.219A>T (p.Leu73Phe)
2g.178014404T>CCA430205465PDE11Ac.969A>G (p.Leu323=)
c.219A>G (p.Leu73=)
2g.178014404T>GCA349703912PDE11Ac.969A>C (p.Leu323Phe)
c.219A>C (p.Leu73Phe)
2g.178014405A>CCA349703913PDE11Ac.968T>G (p.Leu323Ter)
c.218T>G (p.Leu73Ter)
2g.178014405A>GCA349703914PDE11Ac.968T>C (p.Leu323Ser)
c.218T>C (p.Leu73Ser)
2g.178014405A>TCA349703915PDE11Ac.968T>A (p.Leu323Ter)
c.218T>A (p.Leu73Ter)
2g.178014406delCA2662096200PDE11Ac.968del (p.Leu323TyrfsTer20)
c.218del (p.Leu73TyrfsTer20)
 gnomAD v4
2g.178014406A=CA1310286838PDE11Ac.967T= (p.Leu323=)
c.217T= (p.Leu73=)
2g.178014406A>CCA349703916PDE11Ac.967T>G (p.Leu323Val)
c.217T>G (p.Leu73Val)
 COSMIC COSMIC
2g.178014406A>GCA1982154PDE11Ac.967T>C (p.Leu323=)
c.217T>C (p.Leu73=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014406A>TCA349703917PDE11Ac.967T>A (p.Leu323Ile)
c.217T>A (p.Leu73Ile)
2g.178014408_178014410delCA2606704098PDE11Ac.965_967del (p.Ser322del)
c.215_217del (p.Ser72del)
 gnomAD v3 gnomAD v4
2g.178014407T>ACA430205466PDE11Ac.966A>T (p.Ser322=)
c.216A>T (p.Ser72=)
 gnomAD v4
2g.178014407T>CCA430205467PDE11Ac.966A>G (p.Ser322=)
c.216A>G (p.Ser72=)
2g.178014407T>GCA430205468PDE11Ac.966A>C (p.Ser322=)
c.216A>C (p.Ser72=)
2g.178014408G>ACA349703918PDE11Ac.965C>T (p.Ser322Leu)
c.215C>T (p.Ser72Leu)
 COSMIC COSMIC
2g.178014408G>CCA349703919PDE11Ac.965C>G (p.Ser322Ter)
c.215C>G (p.Ser72Ter)
2g.178014408G>TCA349703920PDE11Ac.965C>A (p.Ser322Ter)
c.215C>A (p.Ser72Ter)
2g.178014409A>CCA349703921PDE11Ac.964T>G (p.Ser322Ala)
c.214T>G (p.Ser72Ala)
2g.178014409A>GCA349703923PDE11Ac.964T>C (p.Ser322Pro)
c.214T>C (p.Ser72Pro)
2g.178014409A>TCA349703922PDE11Ac.964T>A (p.Ser322Thr)
c.214T>A (p.Ser72Thr)
2g.178014410T>ACA349703924PDE11Ac.963A>T (p.Lys321Asn)
c.213A>T (p.Lys71Asn)
2g.178014410T>CCA430205469PDE11Ac.963A>G (p.Lys321=)
c.213A>G (p.Lys71=)
2g.178014410T>GCA349703925PDE11Ac.963A>C (p.Lys321Asn)
c.213A>C (p.Lys71Asn)
2g.178014411T>ACA349703926PDE11Ac.962A>T (p.Lys321Ile)
c.212A>T (p.Lys71Ile)
2g.178014411T>CCA349703927PDE11Ac.962A>G (p.Lys321Arg)
c.212A>G (p.Lys71Arg)
2g.178014411T>GCA349703928PDE11Ac.962A>C (p.Lys321Thr)
c.212A>C (p.Lys71Thr)
2g.178014412T>ACA349703929PDE11Ac.961A>T (p.Lys321Ter)
c.211A>T (p.Lys71Ter)
2g.178014412T>CCA349703930PDE11Ac.961A>G (p.Lys321Glu)
c.211A>G (p.Lys71Glu)
2g.178014412T>GCA349703931PDE11Ac.961A>C (p.Lys321Gln)
c.211A>C (p.Lys71Gln)
2g.178014413T>ACA430205470PDE11Ac.960A>T (p.Thr320=)
c.210A>T (p.Thr70=)
2g.178014413T>CCA430205471PDE11Ac.960A>G (p.Thr320=)
c.210A>G (p.Thr70=)
 gnomAD v4
2g.178014413T>GCA430205472PDE11Ac.960A>C (p.Thr320=)
c.210A>C (p.Thr70=)
2g.178014414G>ACA349703932PDE11Ac.959C>T (p.Thr320Ile)
c.209C>T (p.Thr70Ile)
 gnomAD v4
2g.178014414G>CCA349703933PDE11Ac.959C>G (p.Thr320Arg)
c.209C>G (p.Thr70Arg)
2g.178014414G>TCA349703934PDE11Ac.959C>A (p.Thr320Lys)
c.209C>A (p.Thr70Lys)
2g.178014415T>ACA349703935PDE11Ac.958A>T (p.Thr320Ser)
c.208A>T (p.Thr70Ser)
 gnomAD v4
2g.178014415T>CCA349703936PDE11Ac.958A>G (p.Thr320Ala)
c.208A>G (p.Thr70Ala)
2g.178014415T>GCA349703937PDE11Ac.958A>C (p.Thr320Pro)
c.208A>C (p.Thr70Pro)
2g.178014416C>ACA349703938PDE11Ac.957G>T (p.Lys319Asn)
c.207G>T (p.Lys69Asn)
 COSMIC COSMIC
2g.178014416C>GCA349703939PDE11Ac.957G>C (p.Lys319Asn)
c.207G>C (p.Lys69Asn)
2g.178014416C>TCA430205473PDE11Ac.957G>A (p.Lys319=)
c.207G>A (p.Lys69=)
2g.178014417T>ACA349703940PDE11Ac.956A>T (p.Lys319Met)
c.206A>T (p.Lys69Met)
2g.178014417T>CCA349703941PDE11Ac.956A>G (p.Lys319Arg)
c.206A>G (p.Lys69Arg)
2g.178014417T>GCA349703942PDE11Ac.956A>C (p.Lys319Thr)
c.206A>C (p.Lys69Thr)
2g.178014418T>ACA1982155PDE11Ac.955A>T (p.Lys319Ter)
c.205A>T (p.Lys69Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014418T>CCA349703943PDE11Ac.955A>G (p.Lys319Glu)
c.205A>G (p.Lys69Glu)
2g.178014418T>GCA349703944PDE11Ac.955A>C (p.Lys319Gln)
c.205A>C (p.Lys69Gln)
2g.178014418T=CA1310286839PDE11Ac.955A= (p.Lys319=)
c.205A= (p.Lys69=)
2g.178014419G>ACA430205474PDE11Ac.954C>T (p.Tyr318=)
c.204C>T (p.Tyr68=)
 gnomAD v4
2g.178014419G>CCA349703945PDE11Ac.954C>G (p.Tyr318Ter)
c.204C>G (p.Tyr68Ter)
2g.178014419G>TCA349703946PDE11Ac.954C>A (p.Tyr318Ter)
c.204C>A (p.Tyr68Ter)
2g.178014420T>ACA349703947PDE11Ac.953A>T (p.Tyr318Phe)
c.203A>T (p.Tyr68Phe)
 dbSNP gnomAD v4
2g.178014420T>CCA349703948PDE11Ac.953A>G (p.Tyr318Cys)
c.203A>G (p.Tyr68Cys)
2g.178014420T>GCA349703949PDE11Ac.953A>C (p.Tyr318Ser)
c.203A>C (p.Tyr68Ser)
2g.178014420T=CA1310286840PDE11Ac.953A= (p.Tyr318=)
c.203A= (p.Tyr68=)
2g.178014421A=CA1310286841PDE11Ac.952T= (p.Tyr318=)
c.202T= (p.Tyr68=)
2g.178014421A>CCA349703952PDE11Ac.952T>G (p.Tyr318Asp)
c.202T>G (p.Tyr68Asp)
2g.178014421A>GCA349703951PDE11Ac.952T>C (p.Tyr318His)
c.202T>C (p.Tyr68His)
 dbSNP gnomAD v2 gnomAD v4
2g.178014421A>TCA349703950PDE11Ac.952T>A (p.Tyr318Asn)
c.202T>A (p.Tyr68Asn)
2g.178014422T>ACA430205475PDE11Ac.951A>T (p.Gly317=)
c.201A>T (p.Gly67=)
2g.178014422T>CCA430205476PDE11Ac.951A>G (p.Gly317=)
c.201A>G (p.Gly67=)
 gnomAD v4
2g.178014422T>GCA430205477PDE11Ac.951A>C (p.Gly317=)
c.201A>C (p.Gly67=)
2g.178014423C>ACA349703953PDE11Ac.950G>T (p.Gly317Val)
c.200G>T (p.Gly67Val)
2g.178014423C>GCA349703955PDE11Ac.950G>C (p.Gly317Ala)
c.200G>C (p.Gly67Ala)
 COSMIC COSMIC
2g.178014423C>TCA349703954PDE11Ac.950G>A (p.Gly317Glu)
c.200G>A (p.Gly67Glu)
 COSMIC COSMIC
2g.178014424C>ACA349703956PDE11Ac.949G>T (p.Gly317Ter)
c.199G>T (p.Gly67Ter)
2g.178014424C>GCA349703958PDE11Ac.949G>C (p.Gly317Arg)
c.199G>C (p.Gly67Arg)
2g.178014424C>TCA349703957PDE11Ac.949G>A (p.Gly317Arg)
c.199G>A (p.Gly67Arg)
2g.178014425A=CA1310286842PDE11Ac.948T= (p.Thr316=)
c.198T= (p.Thr66=)
2g.178014425A>CCA430205478PDE11Ac.948T>G (p.Thr316=)
c.198T>G (p.Thr66=)
2g.178014425A>GCA430205479PDE11Ac.948T>C (p.Thr316=)
c.198T>C (p.Thr66=)
 dbSNP gnomAD v4
2g.178014425A>TCA430205480PDE11Ac.948T>A (p.Thr316=)
c.198T>A (p.Thr66=)
2g.178014426G>ACA349703959PDE11Ac.947C>T (p.Thr316Ile)
c.197C>T (p.Thr66Ile)
2g.178014426G>CCA349703961PDE11Ac.947C>G (p.Thr316Ser)
c.197C>G (p.Thr66Ser)
2g.178014426G>TCA349703960PDE11Ac.947C>A (p.Thr316Asn)
c.197C>A (p.Thr66Asn)
2g.178014427T>ACA349703962PDE11Ac.946A>T (p.Thr316Ser)
c.196A>T (p.Thr66Ser)
2g.178014427T>CCA349703963PDE11Ac.946A>G (p.Thr316Ala)
c.196A>G (p.Thr66Ala)
 gnomAD v4
2g.178014427T>GCA349703964PDE11Ac.946A>C (p.Thr316Pro)
c.196A>C (p.Thr66Pro)
2g.178014428T>ACA430205481PDE11Ac.945A>T (p.Leu315=)
c.195A>T (p.Leu65=)
2g.178014428T>CCA430205482PDE11Ac.945A>G (p.Leu315=)
c.195A>G (p.Leu65=)
2g.178014428T>GCA430205483PDE11Ac.945A>C (p.Leu315=)
c.195A>C (p.Leu65=)
2g.178014429A=CA1310286843PDE11Ac.944T= (p.Leu315=)
c.194T= (p.Leu65=)
2g.178014429A>CCA349703965PDE11Ac.944T>G (p.Leu315Arg)
c.194T>G (p.Leu65Arg)
 dbSNP gnomAD v4
2g.178014429A>GCA349703966PDE11Ac.944T>C (p.Leu315Pro)
c.194T>C (p.Leu65Pro)
2g.178014429A>TCA349703967PDE11Ac.944T>A (p.Leu315Gln)
c.194T>A (p.Leu65Gln)
2g.178014430G>ACA430205484PDE11Ac.943C>T (p.Leu315=)
c.193C>T (p.Leu65=)
2g.178014430G>CCA349703968PDE11Ac.943C>G (p.Leu315Val)
c.193C>G (p.Leu65Val)
2g.178014430G=CA1310286844PDE11Ac.943C= (p.Leu315=)
c.193C= (p.Leu65=)
2g.178014430G>TCA349703969PDE11Ac.943C>A (p.Leu315Ile)
c.193C>A (p.Leu65Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178014431delCA2662096201PDE11Ac.942del (p.Lys314AsnfsTer2)
c.192del (p.Lys64AsnfsTer2)
 gnomAD v4
2g.178014431C>ACA349703970PDE11Ac.942G>T (p.Lys314Asn)
c.192G>T (p.Lys64Asn)
2g.178014431C=CA1310286845PDE11Ac.942G= (p.Lys314=)
c.192G= (p.Lys64=)
2g.178014431C>GCA349703971PDE11Ac.942G>C (p.Lys314Asn)
c.192G>C (p.Lys64Asn)
 gnomAD v4
2g.178014431C>TCA1982156PDE11Ac.942G>A (p.Lys314=)
c.192G>A (p.Lys64=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014432T>ACA349703974PDE11Ac.941A>T (p.Lys314Met)
c.191A>T (p.Lys64Met)
 gnomAD v4
2g.178014432T>CCA349703972PDE11Ac.941A>G (p.Lys314Arg)
c.191A>G (p.Lys64Arg)
2g.178014432T>GCA349703973PDE11Ac.941A>C (p.Lys314Thr)
c.191A>C (p.Lys64Thr)
 gnomAD v4
2g.178014433T>ACA349703975PDE11Ac.940A>T (p.Lys314Ter)
c.190A>T (p.Lys64Ter)
2g.178014433T>CCA349703976PDE11Ac.940A>G (p.Lys314Glu)
c.190A>G (p.Lys64Glu)
2g.178014433T>GCA349703977PDE11Ac.940A>C (p.Lys314Gln)
c.190A>C (p.Lys64Gln)
2g.178014434G>ACA430205485PDE11Ac.939C>T (p.Asp313=)
c.189C>T (p.Asp63=)
2g.178014434G>CCA349703978PDE11Ac.939C>G (p.Asp313Glu)
c.189C>G (p.Asp63Glu)
2g.178014434G>TCA349703979PDE11Ac.939C>A (p.Asp313Glu)
c.189C>A (p.Asp63Glu)
2g.178014434dupCA2662096202PDE11Ac.939dup (p.Lys314GlnfsTer19)
c.189dup (p.Lys64GlnfsTer19)
 gnomAD v4
2g.178014435T>ACA349703980PDE11Ac.938A>T (p.Asp313Val)
c.188A>T (p.Asp63Val)
2g.178014435T>CCA349703981PDE11Ac.938A>G (p.Asp313Gly)
c.188A>G (p.Asp63Gly)
 gnomAD v4
2g.178014435T>GCA349703982PDE11Ac.938A>C (p.Asp313Ala)
c.188A>C (p.Asp63Ala)
2g.178014435_178014436insGCA2662096203PDE11Ac.937_938insC (p.Asp313AlafsTer20)
c.187_188insC (p.Asp63AlafsTer20)
 gnomAD v4
2g.178014436C>ACA349703983PDE11Ac.937G>T (p.Asp313Tyr)
c.187G>T (p.Asp63Tyr)
 dbSNP gnomAD v4
2g.178014436C=CA1310286846PDE11Ac.937G= (p.Asp313=)
c.187G= (p.Asp63=)
2g.178014436C>GCA349703984PDE11Ac.937G>C (p.Asp313His)
c.187G>C (p.Asp63His)
2g.178014436C>TCA349703985PDE11Ac.937G>A (p.Asp313Asn)
c.187G>A (p.Asp63Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.178014437G>ACA1982157PDE11Ac.936C>T (p.Ile312=)
c.186C>T (p.Ile62=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.178014437G>CCA349703986PDE11Ac.936C>G (p.Ile312Met)
c.186C>G (p.Ile62Met)
2g.178014437G=CA1310286847PDE11Ac.936C= (p.Ile312=)
c.186C= (p.Ile62=)
2g.178014437G>TCA430205486PDE11Ac.936C>A (p.Ile312=)
c.186C>A (p.Ile62=)
2g.178014438A>CCA349703987PDE11Ac.935T>G (p.Ile312Ser)
c.185T>G (p.Ile62Ser)
2g.178014438A>GCA349703988PDE11Ac.935T>C (p.Ile312Thr)
c.185T>C (p.Ile62Thr)
2g.178014438A>TCA349703989PDE11Ac.935T>A (p.Ile312Asn)
c.185T>A (p.Ile62Asn)
2g.178014439T>ACA349703990PDE11Ac.934A>T (p.Ile312Phe)
c.184A>T (p.Ile62Phe)
2g.178014439T>CCA1982158PDE11Ac.934A>G (p.Ile312Val)
c.184A>G (p.Ile62Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014439T>GCA349703991PDE11Ac.934A>C (p.Ile312Leu)
c.184A>C (p.Ile62Leu)
 COSMIC COSMIC
2g.178014439T=CA1310286848PDE11Ac.934A= (p.Ile312=)
c.184A= (p.Ile62=)
2g.178014440T>ACA349703992PDE11Ac.933A>T (p.Glu311Asp)
c.183A>T (p.Glu61Asp)
2g.178014440T>CCA430205487PDE11Ac.933A>G (p.Glu311=)
c.183A>G (p.Glu61=)
2g.178014440T>GCA349703993PDE11Ac.933A>C (p.Glu311Asp)
c.183A>C (p.Glu61Asp)
2g.178014441T>ACA349703994PDE11Ac.932A>T (p.Glu311Val)
c.182A>T (p.Glu61Val)
2g.178014441T>CCA349703995PDE11Ac.932A>G (p.Glu311Gly)
c.182A>G (p.Glu61Gly)
2g.178014441T>GCA349703996PDE11Ac.932A>C (p.Glu311Ala)
c.182A>C (p.Glu61Ala)
2g.178014442C>ACA349703997PDE11Ac.931G>T (p.Glu311Ter)
c.181G>T (p.Glu61Ter)
2g.178014442C>GCA349703998PDE11Ac.931G>C (p.Glu311Gln)
c.181G>C (p.Glu61Gln)
2g.178014442C>TCA349703999PDE11Ac.931G>A (p.Glu311Lys)
c.181G>A (p.Glu61Lys)
2g.178014443A>CCA349704000PDE11Ac.930T>G (p.Asp310Glu)
c.180T>G (p.Asp60Glu)
 gnomAD v4
2g.178014443A>GCA430205488PDE11Ac.930T>C (p.Asp310=)
c.180T>C (p.Asp60=)
2g.178014443A>TCA349704001PDE11Ac.930T>A (p.Asp310Glu)
c.180T>A (p.Asp60Glu)
2g.178014444T>ACA349704002PDE11Ac.929A>T (p.Asp310Val)
c.179A>T (p.Asp60Val)
2g.178014444T>CCA349704003PDE11Ac.929A>G (p.Asp310Gly)
c.179A>G (p.Asp60Gly)
2g.178014444T>GCA349704004PDE11Ac.929A>C (p.Asp310Ala)
c.179A>C (p.Asp60Ala)
2g.178014445C>ACA349704005PDE11Ac.928G>T (p.Asp310Tyr)
c.178G>T (p.Asp60Tyr)
 gnomAD v4
2g.178014445C>GCA349704006PDE11Ac.928G>C (p.Asp310His)
c.178G>C (p.Asp60His)
2g.178014445C>TCA349704007PDE11Ac.928G>A (p.Asp310Asn)
c.178G>A (p.Asp60Asn)
 COSMIC COSMIC
2g.178014446A=CA1310286849PDE11Ac.927T= (p.Asn309=)
c.177T= (p.Asn59=)
2g.178014446A>CCA349704008PDE11Ac.927T>G (p.Asn309Lys)
c.177T>G (p.Asn59Lys)
2g.178014446A>GCA430205489PDE11Ac.927T>C (p.Asn309=)
c.177T>C (p.Asn59=)
 dbSNP gnomAD v2 gnomAD v4
2g.178014446A>TCA349704009PDE11Ac.927T>A (p.Asn309Lys)
c.177T>A (p.Asn59Lys)
2g.178014447T>ACA349704010PDE11Ac.926A>T (p.Asn309Ile)
c.176A>T (p.Asn59Ile)
2g.178014447T>CCA1982159PDE11Ac.926A>G (p.Asn309Ser)
c.176A>G (p.Asn59Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014447T>GCA349704011PDE11Ac.926A>C (p.Asn309Thr)
c.176A>C (p.Asn59Thr)
2g.178014447T=CA1310286850PDE11Ac.926A= (p.Asn309=)
c.176A= (p.Asn59=)
2g.178014448delCA2662096204PDE11Ac.926del (p.Asn309MetfsTer7)
c.176del (p.Asn59MetfsTer7)
 gnomAD v4
2g.178014448T>ACA349704014PDE11Ac.925A>T (p.Asn309Tyr)
c.175A>T (p.Asn59Tyr)
2g.178014448T>CCA349704013PDE11Ac.925A>G (p.Asn309Asp)
c.175A>G (p.Asn59Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178014448T>GCA349704012PDE11Ac.925A>C (p.Asn309His)
c.175A>C (p.Asn59His)
 dbSNP
2g.178014448T=CA1310286851PDE11Ac.925A= (p.Asn309=)
c.175A= (p.Asn59=)
2g.178014449G>ACA430205490PDE11Ac.924C>T (p.Phe308=)
c.174C>T (p.Phe58=)
2g.178014449G>CCA349704015PDE11Ac.924C>G (p.Phe308Leu)
c.174C>G (p.Phe58Leu)
2g.178014449G>TCA349704016PDE11Ac.924C>A (p.Phe308Leu)
c.174C>A (p.Phe58Leu)
2g.178014450A>CCA349704017PDE11Ac.923T>G (p.Phe308Cys)
c.173T>G (p.Phe58Cys)
2g.178014450A>GCA349704018PDE11Ac.923T>C (p.Phe308Ser)
c.173T>C (p.Phe58Ser)
2g.178014450A>TCA349704019PDE11Ac.923T>A (p.Phe308Tyr)
c.173T>A (p.Phe58Tyr)
2g.178014451A>CCA349704020PDE11Ac.922T>G (p.Phe308Val)
c.172T>G (p.Phe58Val)
2g.178014451A>GCA349704021PDE11Ac.922T>C (p.Phe308Leu)
c.172T>C (p.Phe58Leu)
 COSMIC COSMIC
2g.178014451A>TCA349704022PDE11Ac.922T>A (p.Phe308Ile)
c.172T>A (p.Phe58Ile)
2g.178014452T>ACA430205493PDE11Ac.921A>T (p.Arg307=)
c.171A>T (p.Arg57=)
 gnomAD v4
2g.178014452T>CCA430205492PDE11Ac.921A>G (p.Arg307=)
c.171A>G (p.Arg57=)
2g.178014452T>GCA430205491PDE11Ac.921A>C (p.Arg307=)
c.171A>C (p.Arg57=)
 gnomAD v4
2g.178014453C>ACA1982161PDE11Ac.920G>T (p.Arg307Leu)
c.170G>T (p.Arg57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014453C=CA1310286852PDE11Ac.920G= (p.Arg307=)
c.170G= (p.Arg57=)
2g.178014453C>GCA349704023PDE11Ac.920G>C (p.Arg307Pro)
c.170G>C (p.Arg57Pro)
2g.178014453C>TCA1982160PDE11Ac.920G>A (p.Arg307Gln)
c.170G>A (p.Arg57Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.178014454G>ACA117375PDE11Ac.919C>T (p.Arg307Ter)
c.169C>T (p.Arg57Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.178014454G>CCA349704024PDE11Ac.919C>G (p.Arg307Gly)
c.169C>G (p.Arg57Gly)
2g.178014454G=CA1310286853PDE11Ac.919C= (p.Arg307=)
c.169C= (p.Arg57=)
2g.178014454G>TCA430205494PDE11Ac.919C>A (p.Arg307=)
c.169C>A (p.Arg57=)
2g.178014455T>ACA430205495PDE11Ac.918A>T (p.Arg306=)
c.168A>T (p.Arg56=)
2g.178014455T>CCA430205496PDE11Ac.918A>G (p.Arg306=)
c.168A>G (p.Arg56=)
 COSMIC COSMIC
2g.178014455T>GCA430205497PDE11Ac.918A>C (p.Arg306=)
c.168A>C (p.Arg56=)
 COSMIC COSMIC
2g.178014456C>ACA349704025PDE11Ac.917G>T (p.Arg306Leu)
c.167G>T (p.Arg56Leu)
2g.178014456C=CA1310286854PDE11Ac.917G= (p.Arg306=)
c.167G= (p.Arg56=)
2g.178014456C>GCA349704026PDE11Ac.917G>C (p.Arg306Pro)
c.167G>C (p.Arg56Pro)
2g.178014456C>TCA1982162PDE11Ac.917G>A (p.Arg306Gln)
c.167G>A (p.Arg56Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched