Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89279366G>ACA497372543ANKRD11c.7176C>T (p.Ser2392=)
c.*6979C>T (n.*6979C>T)
c.745-4175C>T (n.745-4175C>T)
c.152-4175C>T
n.351C>T
c.7074C>T (p.Ser2358=)
c.6879C>T (p.Ser2293=)
c.7047C>T (p.Ser2349=)
 gnomAD v4
16g.89279366G>CCA497372546ANKRD11c.7176C>G (p.Ser2392=)
c.*6979C>G (n.*6979C>G)
c.745-4175C>G (n.745-4175C>G)
c.152-4175C>G
n.351C>G
c.7074C>G (p.Ser2358=)
c.6879C>G (p.Ser2293=)
c.7047C>G (p.Ser2349=)
16g.89279366G>TCA497372548ANKRD11c.7176C>A (p.Ser2392=)
c.*6979C>A (n.*6979C>A)
c.745-4175C>A (n.745-4175C>A)
c.152-4175C>A
n.351C>A
c.7074C>A (p.Ser2358=)
c.6879C>A (p.Ser2293=)
c.7047C>A (p.Ser2349=)
16g.89279367G>ACA397149064ANKRD11c.7175C>T (p.Ser2392Phe)
c.*6978C>T (n.*6978C>T)
c.745-4176C>T (n.745-4176C>T)
c.152-4176C>T
n.350C>T
c.7073C>T (p.Ser2358Phe)
c.6878C>T (p.Ser2293Phe)
c.7046C>T (p.Ser2349Phe)
16g.89279367G>CCA397149066ANKRD11c.7175C>G (p.Ser2392Cys)
c.*6978C>G (n.*6978C>G)
c.745-4176C>G (n.745-4176C>G)
c.152-4176C>G
n.350C>G
c.7073C>G (p.Ser2358Cys)
c.6878C>G (p.Ser2293Cys)
c.7046C>G (p.Ser2349Cys)
16g.89279367G>TCA397149067ANKRD11c.7175C>A (p.Ser2392Tyr)
c.*6978C>A (n.*6978C>A)
c.745-4176C>A (n.745-4176C>A)
c.152-4176C>A
n.350C>A
c.7073C>A (p.Ser2358Tyr)
c.6878C>A (p.Ser2293Tyr)
c.7046C>A (p.Ser2349Tyr)
16g.89279368A>CCA397149069ANKRD11c.7174T>G (p.Ser2392Ala)
c.*6977T>G (n.*6977T>G)
c.745-4177T>G (n.745-4177T>G)
c.152-4177T>G
n.349T>G
c.7072T>G (p.Ser2358Ala)
c.6877T>G (p.Ser2293Ala)
c.7045T>G (p.Ser2349Ala)
16g.89279368A>GCA397149070ANKRD11c.7174T>C (p.Ser2392Pro)
c.*6977T>C (n.*6977T>C)
c.745-4177T>C (n.745-4177T>C)
c.152-4177T>C
n.349T>C
c.7072T>C (p.Ser2358Pro)
c.6877T>C (p.Ser2293Pro)
c.7045T>C (p.Ser2349Pro)
 gnomAD v4
16g.89279368A>TCA397149072ANKRD11c.7174T>A (p.Ser2392Thr)
c.*6977T>A (n.*6977T>A)
c.745-4177T>A (n.745-4177T>A)
c.152-4177T>A
n.349T>A
c.7072T>A (p.Ser2358Thr)
c.6877T>A (p.Ser2293Thr)
c.7045T>A (p.Ser2349Thr)
16g.89279369G>ACA497372553ANKRD11c.7173C>T (p.Arg2391=)
c.*6976C>T (n.*6976C>T)
c.745-4178C>T (n.745-4178C>T)
c.152-4178C>T
n.348C>T
c.7071C>T (p.Arg2357=)
c.6876C>T (p.Arg2292=)
c.7044C>T (p.Arg2348=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279369G>CCA497372556ANKRD11c.7173C>G (p.Arg2391=)
c.*6976C>G (n.*6976C>G)
c.745-4178C>G (n.745-4178C>G)
c.152-4178C>G
n.348C>G
c.7071C>G (p.Arg2357=)
c.6876C>G (p.Arg2292=)
c.7044C>G (p.Arg2348=)
16g.89279369G=CA2241586668ANKRD11c.7173C= (p.Arg2391=)
c.*6976C= (n.*6976C=)
c.745-4178C= (n.745-4178C=)
c.152-4178C=
n.348C=
c.7071C= (p.Arg2357=)
c.6876C= (p.Arg2292=)
c.7044C= (p.Arg2348=)
16g.89279369G>TCA497372558ANKRD11c.7173C>A (p.Arg2391=)
c.*6976C>A (n.*6976C>A)
c.745-4178C>A (n.745-4178C>A)
c.152-4178C>A
n.348C>A
c.7071C>A (p.Arg2357=)
c.6876C>A (p.Arg2292=)
c.7044C>A (p.Arg2348=)
16g.89279370C>ACA397149074ANKRD11c.7172G>T (p.Arg2391Leu)
c.*6975G>T (n.*6975G>T)
c.745-4179G>T (n.745-4179G>T)
c.152-4179G>T
n.347G>T
c.7070G>T (p.Arg2357Leu)
c.6875G>T (p.Arg2292Leu)
c.7043G>T (p.Arg2348Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.89279370C=CA2241586669ANKRD11c.7172G= (p.Arg2391=)
c.*6975G= (n.*6975G=)
c.745-4179G= (n.745-4179G=)
c.152-4179G=
n.347G=
c.7070G= (p.Arg2357=)
c.6875G= (p.Arg2292=)
c.7043G= (p.Arg2348=)
16g.89279370C>GCA397149076ANKRD11c.7172G>C (p.Arg2391Pro)
c.*6975G>C (n.*6975G>C)
c.745-4179G>C (n.745-4179G>C)
c.152-4179G>C
n.347G>C
c.7070G>C (p.Arg2357Pro)
c.6875G>C (p.Arg2292Pro)
c.7043G>C (p.Arg2348Pro)
 gnomAD v4
16g.89279370C>TCA397149078ANKRD11c.7172G>A (p.Arg2391His)
c.*6975G>A (n.*6975G>A)
c.745-4179G>A (n.745-4179G>A)
c.152-4179G>A
n.347G>A
c.7070G>A (p.Arg2357His)
c.6875G>A (p.Arg2292His)
c.7043G>A (p.Arg2348His)
 dbSNP gnomAD v2 gnomAD v4
16g.89279371G>ACA397149083ANKRD11c.7171C>T (p.Arg2391Cys)
c.*6974C>T (n.*6974C>T)
c.745-4180C>T (n.745-4180C>T)
c.152-4180C>T
n.346C>T
c.7069C>T (p.Arg2357Cys)
c.6874C>T (p.Arg2292Cys)
c.7042C>T (p.Arg2348Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.89279371G>CCA397149079ANKRD11c.7171C>G (p.Arg2391Gly)
c.*6974C>G (n.*6974C>G)
c.745-4180C>G (n.745-4180C>G)
c.152-4180C>G
n.346C>G
c.7069C>G (p.Arg2357Gly)
c.6874C>G (p.Arg2292Gly)
c.7042C>G (p.Arg2348Gly)
16g.89279371G=CA2241586670ANKRD11c.7171C= (p.Arg2391=)
c.*6974C= (n.*6974C=)
c.745-4180C= (n.745-4180C=)
c.152-4180C=
n.346C=
c.7069C= (p.Arg2357=)
c.6874C= (p.Arg2292=)
c.7042C= (p.Arg2348=)
16g.89279371G>TCA397149081ANKRD11c.7171C>A (p.Arg2391Ser)
c.*6974C>A (n.*6974C>A)
c.745-4180C>A (n.745-4180C>A)
c.152-4180C>A
n.346C>A
c.7069C>A (p.Arg2357Ser)
c.6874C>A (p.Arg2292Ser)
c.7042C>A (p.Arg2348Ser)
16g.89279372C>ACA397149085ANKRD11c.7170G>T (p.Gln2390His)
c.*6973G>T (n.*6973G>T)
c.745-4181G>T (n.745-4181G>T)
c.152-4181G>T
n.345G>T
c.7068G>T (p.Gln2356His)
c.6873G>T (p.Gln2291His)
c.7041G>T (p.Gln2347His)
 gnomAD v4
16g.89279372C>GCA397149086ANKRD11c.7170G>C (p.Gln2390His)
c.*6973G>C (n.*6973G>C)
c.745-4181G>C (n.745-4181G>C)
c.152-4181G>C
n.345G>C
c.7068G>C (p.Gln2356His)
c.6873G>C (p.Gln2291His)
c.7041G>C (p.Gln2347His)
16g.89279372C>TCA497372562ANKRD11c.7170G>A (p.Gln2390=)
c.*6973G>A (n.*6973G>A)
c.745-4181G>A (n.745-4181G>A)
c.152-4181G>A
n.345G>A
c.7068G>A (p.Gln2356=)
c.6873G>A (p.Gln2291=)
c.7041G>A (p.Gln2347=)
16g.89279373T>ACA397149089ANKRD11c.7169A>T (p.Gln2390Leu)
c.*6972A>T (n.*6972A>T)
c.745-4182A>T (n.745-4182A>T)
c.152-4182A>T
n.344A>T
c.7067A>T (p.Gln2356Leu)
c.6872A>T (p.Gln2291Leu)
c.7040A>T (p.Gln2347Leu)
16g.89279373T>CCA397149091ANKRD11c.7169A>G (p.Gln2390Arg)
c.*6972A>G (n.*6972A>G)
c.745-4182A>G (n.745-4182A>G)
c.152-4182A>G
n.344A>G
c.7067A>G (p.Gln2356Arg)
c.6872A>G (p.Gln2291Arg)
c.7040A>G (p.Gln2347Arg)
 gnomAD v4
16g.89279373T>GCA397149092ANKRD11c.7169A>C (p.Gln2390Pro)
c.*6972A>C (n.*6972A>C)
c.745-4182A>C (n.745-4182A>C)
c.152-4182A>C
n.344A>C
c.7067A>C (p.Gln2356Pro)
c.6872A>C (p.Gln2291Pro)
c.7040A>C (p.Gln2347Pro)
16g.89279374G>ACA397149095ANKRD11c.7168C>T (p.Gln2390Ter)
c.*6971C>T (n.*6971C>T)
c.745-4183C>T (n.745-4183C>T)
c.152-4183C>T
n.343C>T
c.7066C>T (p.Gln2356Ter)
c.6871C>T (p.Gln2291Ter)
c.7039C>T (p.Gln2347Ter)
 ClinVar dbSNP gnomAD v4
16g.89279374G>CCA397149097ANKRD11c.7168C>G (p.Gln2390Glu)
c.*6971C>G (n.*6971C>G)
c.745-4183C>G (n.745-4183C>G)
c.152-4183C>G
n.343C>G
c.7066C>G (p.Gln2356Glu)
c.6871C>G (p.Gln2291Glu)
c.7039C>G (p.Gln2347Glu)
16g.89279374G>TCA397149098ANKRD11c.7168C>A (p.Gln2390Lys)
c.*6971C>A (n.*6971C>A)
c.745-4183C>A (n.745-4183C>A)
c.152-4183C>A
n.343C>A
c.7066C>A (p.Gln2356Lys)
c.6871C>A (p.Gln2291Lys)
c.7039C>A (p.Gln2347Lys)
16g.89279375A=CA2241586671ANKRD11c.7167T= (p.Phe2389=)
c.*6970T= (n.*6970T=)
c.745-4184T= (n.745-4184T=)
c.152-4184T=
n.342T=
c.7065T= (p.Phe2355=)
c.6870T= (p.Phe2290=)
c.7038T= (p.Phe2346=)
16g.89279375A>CCA286509471ANKRD11c.7167T>G (p.Phe2389Leu)
c.*6970T>G (n.*6970T>G)
c.745-4184T>G (n.745-4184T>G)
c.152-4184T>G
n.342T>G
c.7065T>G (p.Phe2355Leu)
c.6870T>G (p.Phe2290Leu)
c.7038T>G (p.Phe2346Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279375A>GCA497372566ANKRD11c.7167T>C (p.Phe2389=)
c.*6970T>C (n.*6970T>C)
c.745-4184T>C (n.745-4184T>C)
c.152-4184T>C
n.342T>C
c.7065T>C (p.Phe2355=)
c.6870T>C (p.Phe2290=)
c.7038T>C (p.Phe2346=)
 gnomAD v4
16g.89279375A>TCA397149101ANKRD11c.7167T>A (p.Phe2389Leu)
c.*6970T>A (n.*6970T>A)
c.745-4184T>A (n.745-4184T>A)
c.152-4184T>A
n.342T>A
c.7065T>A (p.Phe2355Leu)
c.6870T>A (p.Phe2290Leu)
c.7038T>A (p.Phe2346Leu)
16g.89279377delCA2576097088ANKRD11c.7167del (p.Gln2390SerfsTer11)
c.*6970del (n.*6970del)
c.745-4184del (n.745-4184del)
c.152-4184del
n.342del
c.7065del (p.Gln2356SerfsTer11)
c.6870del (p.Gln2291SerfsTer11)
c.7038del (p.Gln2347SerfsTer11)
16g.89279376A>CCA397149107ANKRD11c.7166T>G (p.Phe2389Cys)
c.*6969T>G (n.*6969T>G)
c.745-4185T>G (n.745-4185T>G)
c.152-4185T>G
n.341T>G
c.7064T>G (p.Phe2355Cys)
c.6869T>G (p.Phe2290Cys)
c.7037T>G (p.Phe2346Cys)
16g.89279376A>GCA397149105ANKRD11c.7166T>C (p.Phe2389Ser)
c.*6969T>C (n.*6969T>C)
c.745-4185T>C (n.745-4185T>C)
c.152-4185T>C
n.341T>C
c.7064T>C (p.Phe2355Ser)
c.6869T>C (p.Phe2290Ser)
c.7037T>C (p.Phe2346Ser)
16g.89279376A>TCA397149103ANKRD11c.7166T>A (p.Phe2389Tyr)
c.*6969T>A (n.*6969T>A)
c.745-4185T>A (n.745-4185T>A)
c.152-4185T>A
n.341T>A
c.7064T>A (p.Phe2355Tyr)
c.6869T>A (p.Phe2290Tyr)
c.7037T>A (p.Phe2346Tyr)
16g.89279377A>CCA397149109ANKRD11c.7165T>G (p.Phe2389Val)
c.*6968T>G (n.*6968T>G)
c.745-4186T>G (n.745-4186T>G)
c.152-4186T>G
n.340T>G
c.7063T>G (p.Phe2355Val)
c.6868T>G (p.Phe2290Val)
c.7036T>G (p.Phe2346Val)
 gnomAD v4
16g.89279377A>GCA397149111ANKRD11c.7165T>C (p.Phe2389Leu)
c.*6968T>C (n.*6968T>C)
c.745-4186T>C (n.745-4186T>C)
c.152-4186T>C
n.340T>C
c.7063T>C (p.Phe2355Leu)
c.6868T>C (p.Phe2290Leu)
c.7036T>C (p.Phe2346Leu)
 gnomAD v4
16g.89279377A>TCA397149113ANKRD11c.7165T>A (p.Phe2389Ile)
c.*6968T>A (n.*6968T>A)
c.745-4186T>A (n.745-4186T>A)
c.152-4186T>A
n.340T>A
c.7063T>A (p.Phe2355Ile)
c.6868T>A (p.Phe2290Ile)
c.7036T>A (p.Phe2346Ile)
16g.89279378G>ACA497372573ANKRD11c.7164C>T (p.Arg2388=)
c.*6967C>T (n.*6967C>T)
c.745-4187C>T (n.745-4187C>T)
c.152-4187C>T
n.339C>T
c.7062C>T (p.Arg2354=)
c.6867C>T (p.Arg2289=)
c.7035C>T (p.Arg2345=)
16g.89279378G>CCA497372574ANKRD11c.7164C>G (p.Arg2388=)
c.*6967C>G (n.*6967C>G)
c.745-4187C>G (n.745-4187C>G)
c.152-4187C>G
n.339C>G
c.7062C>G (p.Arg2354=)
c.6867C>G (p.Arg2289=)
c.7035C>G (p.Arg2345=)
 gnomAD v4
16g.89279378G>TCA497372575ANKRD11c.7164C>A (p.Arg2388=)
c.*6967C>A (n.*6967C>A)
c.745-4187C>A (n.745-4187C>A)
c.152-4187C>A
n.339C>A
c.7062C>A (p.Arg2354=)
c.6867C>A (p.Arg2289=)
c.7035C>A (p.Arg2345=)
16g.89279379C>ACA397149114ANKRD11c.7163G>T (p.Arg2388Leu)
c.*6966G>T (n.*6966G>T)
c.745-4188G>T (n.745-4188G>T)
c.152-4188G>T
n.338G>T
c.7061G>T (p.Arg2354Leu)
c.6866G>T (p.Arg2289Leu)
c.7034G>T (p.Arg2345Leu)
 dbSNP gnomAD v4
16g.89279379C=CA2241586672ANKRD11c.7163G= (p.Arg2388=)
c.*6966G= (n.*6966G=)
c.745-4188G= (n.745-4188G=)
c.152-4188G=
n.338G=
c.7061G= (p.Arg2354=)
c.6866G= (p.Arg2289=)
c.7034G= (p.Arg2345=)
16g.89279379C>GCA397149115ANKRD11c.7163G>C (p.Arg2388Pro)
c.*6966G>C (n.*6966G>C)
c.745-4188G>C (n.745-4188G>C)
c.152-4188G>C
n.338G>C
c.7061G>C (p.Arg2354Pro)
c.6866G>C (p.Arg2289Pro)
c.7034G>C (p.Arg2345Pro)
16g.89279379C>TCA397149117ANKRD11c.7163G>A (p.Arg2388His)
c.*6966G>A (n.*6966G>A)
c.745-4188G>A (n.745-4188G>A)
c.152-4188G>A
n.338G>A
c.7061G>A (p.Arg2354His)
c.6866G>A (p.Arg2289His)
c.7034G>A (p.Arg2345His)
 gnomAD v4 COSMIC
16g.89279380G>ACA397149119ANKRD11c.7162C>T (p.Arg2388Cys)
c.*6965C>T (n.*6965C>T)
c.745-4189C>T (n.745-4189C>T)
c.152-4189C>T
n.337C>T
c.7060C>T (p.Arg2354Cys)
c.6865C>T (p.Arg2289Cys)
c.7033C>T (p.Arg2345Cys)
 ClinVar dbSNP gnomAD v4
16g.89279380G>CCA397149120ANKRD11c.7162C>G (p.Arg2388Gly)
c.*6965C>G (n.*6965C>G)
c.745-4189C>G (n.745-4189C>G)
c.152-4189C>G
n.337C>G
c.7060C>G (p.Arg2354Gly)
c.6865C>G (p.Arg2289Gly)
c.7033C>G (p.Arg2345Gly)
16g.89279380G=CA2241586673ANKRD11c.7162C= (p.Arg2388=)
c.*6965C= (n.*6965C=)
c.745-4189C= (n.745-4189C=)
c.152-4189C=
n.337C=
c.7060C= (p.Arg2354=)
c.6865C= (p.Arg2289=)
c.7033C= (p.Arg2345=)
16g.89279380G>TCA397149121ANKRD11c.7162C>A (p.Arg2388Ser)
c.*6965C>A (n.*6965C>A)
c.745-4189C>A (n.745-4189C>A)
c.152-4189C>A
n.337C>A
c.7060C>A (p.Arg2354Ser)
c.6865C>A (p.Arg2289Ser)
c.7033C>A (p.Arg2345Ser)
 gnomAD v4
16g.89279381G>ACA8241289ANKRD11c.7161C>T (p.Arg2387=)
c.*6964C>T (n.*6964C>T)
c.745-4190C>T (n.745-4190C>T)
c.152-4190C>T
n.336C>T
c.7059C>T (p.Arg2353=)
c.6864C>T (p.Arg2288=)
c.7032C>T (p.Arg2344=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89279381G>CCA497372579ANKRD11c.7161C>G (p.Arg2387=)
c.*6964C>G (n.*6964C>G)
c.745-4190C>G (n.745-4190C>G)
c.152-4190C>G
n.336C>G
c.7059C>G (p.Arg2353=)
c.6864C>G (p.Arg2288=)
c.7032C>G (p.Arg2344=)
16g.89279381G=CA2241586674ANKRD11c.7161C= (p.Arg2387=)
c.*6964C= (n.*6964C=)
c.745-4190C= (n.745-4190C=)
c.152-4190C=
n.336C=
c.7059C= (p.Arg2353=)
c.6864C= (p.Arg2288=)
c.7032C= (p.Arg2344=)
16g.89279381G>TCA497372577ANKRD11c.7161C>A (p.Arg2387=)
c.*6964C>A (n.*6964C>A)
c.745-4190C>A (n.745-4190C>A)
c.152-4190C>A
n.336C>A
c.7059C>A (p.Arg2353=)
c.6864C>A (p.Arg2288=)
c.7032C>A (p.Arg2344=)
 gnomAD v4
16g.89279382C>ACA397149125ANKRD11c.7160G>T (p.Arg2387Leu)
c.*6963G>T (n.*6963G>T)
c.745-4191G>T (n.745-4191G>T)
c.152-4191G>T
n.335G>T
c.7058G>T (p.Arg2353Leu)
c.6863G>T (p.Arg2288Leu)
c.7031G>T (p.Arg2344Leu)
16g.89279382C=CA2241586675ANKRD11c.7160G= (p.Arg2387=)
c.*6963G= (n.*6963G=)
c.745-4191G= (n.745-4191G=)
c.152-4191G=
n.335G=
c.7058G= (p.Arg2353=)
c.6863G= (p.Arg2288=)
c.7031G= (p.Arg2344=)
16g.89279382C>GCA397149127ANKRD11c.7160G>C (p.Arg2387Pro)
c.*6963G>C (n.*6963G>C)
c.745-4191G>C (n.745-4191G>C)
c.152-4191G>C
n.335G>C
c.7058G>C (p.Arg2353Pro)
c.6863G>C (p.Arg2288Pro)
c.7031G>C (p.Arg2344Pro)
 dbSNP gnomAD v2
16g.89279382C>TCA397149129ANKRD11c.7160G>A (p.Arg2387His)
c.*6963G>A (n.*6963G>A)
c.745-4191G>A (n.745-4191G>A)
c.152-4191G>A
n.335G>A
c.7058G>A (p.Arg2353His)
c.6863G>A (p.Arg2288His)
c.7031G>A (p.Arg2344His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279383G>ACA397149132ANKRD11c.7159C>T (p.Arg2387Cys)
c.*6962C>T (n.*6962C>T)
c.745-4192C>T (n.745-4192C>T)
c.152-4192C>T
n.334C>T
c.7057C>T (p.Arg2353Cys)
c.6862C>T (p.Arg2288Cys)
c.7030C>T (p.Arg2344Cys)
 dbSNP gnomAD v3 gnomAD v4
16g.89279383G>CCA397149135ANKRD11c.7159C>G (p.Arg2387Gly)
c.*6962C>G (n.*6962C>G)
c.745-4192C>G (n.745-4192C>G)
c.152-4192C>G
n.334C>G
c.7057C>G (p.Arg2353Gly)
c.6862C>G (p.Arg2288Gly)
c.7030C>G (p.Arg2344Gly)
16g.89279383G=CA2241586676ANKRD11c.7159C= (p.Arg2387=)
c.*6962C= (n.*6962C=)
c.745-4192C= (n.745-4192C=)
c.152-4192C=
n.334C=
c.7057C= (p.Arg2353=)
c.6862C= (p.Arg2288=)
c.7030C= (p.Arg2344=)
16g.89279383G>TCA397149133ANKRD11c.7159C>A (p.Arg2387Ser)
c.*6962C>A (n.*6962C>A)
c.745-4192C>A (n.745-4192C>A)
c.152-4192C>A
n.334C>A
c.7057C>A (p.Arg2353Ser)
c.6862C>A (p.Arg2288Ser)
c.7030C>A (p.Arg2344Ser)
16g.89279384T>ACA397149136ANKRD11c.7158A>T (p.Lys2386Asn)
c.*6961A>T (n.*6961A>T)
c.745-4193A>T (n.745-4193A>T)
c.152-4193A>T
n.333A>T
c.7056A>T (p.Lys2352Asn)
c.6861A>T (p.Lys2287Asn)
c.7029A>T (p.Lys2343Asn)
16g.89279384T>CCA497372586ANKRD11c.7158A>G (p.Lys2386=)
c.*6961A>G (n.*6961A>G)
c.745-4193A>G (n.745-4193A>G)
c.152-4193A>G
n.333A>G
c.7056A>G (p.Lys2352=)
c.6861A>G (p.Lys2287=)
c.7029A>G (p.Lys2343=)
16g.89279384T>GCA397149138ANKRD11c.7158A>C (p.Lys2386Asn)
c.*6961A>C (n.*6961A>C)
c.745-4193A>C (n.745-4193A>C)
c.152-4193A>C
n.333A>C
c.7056A>C (p.Lys2352Asn)
c.6861A>C (p.Lys2287Asn)
c.7029A>C (p.Lys2343Asn)
16g.89279385T>ACA397149140ANKRD11c.7157A>T (p.Lys2386Ile)
c.*6960A>T (n.*6960A>T)
c.745-4194A>T (n.745-4194A>T)
c.152-4194A>T
n.332A>T
c.7055A>T (p.Lys2352Ile)
c.6860A>T (p.Lys2287Ile)
c.7028A>T (p.Lys2343Ile)
16g.89279385T>CCA397149142ANKRD11c.7157A>G (p.Lys2386Arg)
c.*6960A>G (n.*6960A>G)
c.745-4194A>G (n.745-4194A>G)
c.152-4194A>G
n.332A>G
c.7055A>G (p.Lys2352Arg)
c.6860A>G (p.Lys2287Arg)
c.7028A>G (p.Lys2343Arg)
16g.89279385T>GCA397149144ANKRD11c.7157A>C (p.Lys2386Thr)
c.*6960A>C (n.*6960A>C)
c.745-4194A>C (n.745-4194A>C)
c.152-4194A>C
n.332A>C
c.7055A>C (p.Lys2352Thr)
c.6860A>C (p.Lys2287Thr)
c.7028A>C (p.Lys2343Thr)
16g.89279386T>ACA397149146ANKRD11c.7156A>T (p.Lys2386Ter)
c.*6959A>T (n.*6959A>T)
c.745-4195A>T (n.745-4195A>T)
c.152-4195A>T
n.331A>T
c.7054A>T (p.Lys2352Ter)
c.6859A>T (p.Lys2287Ter)
c.7027A>T (p.Lys2343Ter)
16g.89279386T>CCA397149148ANKRD11c.7156A>G (p.Lys2386Glu)
c.*6959A>G (n.*6959A>G)
c.745-4195A>G (n.745-4195A>G)
c.152-4195A>G
n.331A>G
c.7054A>G (p.Lys2352Glu)
c.6859A>G (p.Lys2287Glu)
c.7027A>G (p.Lys2343Glu)
16g.89279386T>GCA397149150ANKRD11c.7156A>C (p.Lys2386Gln)
c.*6959A>C (n.*6959A>C)
c.745-4195A>C (n.745-4195A>C)
c.152-4195A>C
n.331A>C
c.7054A>C (p.Lys2352Gln)
c.6859A>C (p.Lys2287Gln)
c.7027A>C (p.Lys2343Gln)
16g.89279387G>ACA497372591ANKRD11c.7155C>T (p.Arg2385=)
c.*6958C>T (n.*6958C>T)
c.745-4196C>T (n.745-4196C>T)
c.152-4196C>T
n.330C>T
c.7053C>T (p.Arg2351=)
c.6858C>T (p.Arg2286=)
c.7026C>T (p.Arg2342=)
 gnomAD v4
16g.89279387G>CCA497372593ANKRD11c.7155C>G (p.Arg2385=)
c.*6958C>G (n.*6958C>G)
c.745-4196C>G (n.745-4196C>G)
c.152-4196C>G
n.330C>G
c.7053C>G (p.Arg2351=)
c.6858C>G (p.Arg2286=)
c.7026C>G (p.Arg2342=)
 dbSNP
16g.89279387G=CA2241586677ANKRD11c.7155C= (p.Arg2385=)
c.*6958C= (n.*6958C=)
c.745-4196C= (n.745-4196C=)
c.152-4196C=
n.330C=
c.7053C= (p.Arg2351=)
c.6858C= (p.Arg2286=)
c.7026C= (p.Arg2342=)
16g.89279387G>TCA497372594ANKRD11c.7155C>A (p.Arg2385=)
c.*6958C>A (n.*6958C>A)
c.745-4196C>A (n.745-4196C>A)
c.152-4196C>A
n.330C>A
c.7053C>A (p.Arg2351=)
c.6858C>A (p.Arg2286=)
c.7026C>A (p.Arg2342=)
16g.89279388C>ACA397149152ANKRD11c.7154G>T (p.Arg2385Leu)
c.*6957G>T (n.*6957G>T)
c.745-4197G>T (n.745-4197G>T)
c.152-4197G>T
n.329G>T
c.7052G>T (p.Arg2351Leu)
c.6857G>T (p.Arg2286Leu)
c.7025G>T (p.Arg2342Leu)
 gnomAD v4
16g.89279388C=CA2241586678ANKRD11c.7154G= (p.Arg2385=)
c.*6957G= (n.*6957G=)
c.745-4197G= (n.745-4197G=)
c.152-4197G=
n.329G=
c.7052G= (p.Arg2351=)
c.6857G= (p.Arg2286=)
c.7025G= (p.Arg2342=)
16g.89279388C>GCA397149154ANKRD11c.7154G>C (p.Arg2385Pro)
c.*6957G>C (n.*6957G>C)
c.745-4197G>C (n.745-4197G>C)
c.152-4197G>C
n.329G>C
c.7052G>C (p.Arg2351Pro)
c.6857G>C (p.Arg2286Pro)
c.7025G>C (p.Arg2342Pro)
16g.89279388C>TCA397149156ANKRD11c.7154G>A (p.Arg2385His)
c.*6957G>A (n.*6957G>A)
c.745-4197G>A (n.745-4197G>A)
c.152-4197G>A
n.329G>A
c.7052G>A (p.Arg2351His)
c.6857G>A (p.Arg2286His)
c.7025G>A (p.Arg2342His)
 dbSNP gnomAD v4
16g.89279389G>ACA397149160ANKRD11c.7153C>T (p.Arg2385Cys)
c.*6956C>T (n.*6956C>T)
c.745-4198C>T (n.745-4198C>T)
c.152-4198C>T
n.328C>T
c.7051C>T (p.Arg2351Cys)
c.6856C>T (p.Arg2286Cys)
c.7024C>T (p.Arg2342Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89279389G>CCA397149162ANKRD11c.7153C>G (p.Arg2385Gly)
c.*6956C>G (n.*6956C>G)
c.745-4198C>G (n.745-4198C>G)
c.152-4198C>G
n.328C>G
c.7051C>G (p.Arg2351Gly)
c.6856C>G (p.Arg2286Gly)
c.7024C>G (p.Arg2342Gly)
16g.89279389G=CA2241586679ANKRD11c.7153C= (p.Arg2385=)
c.*6956C= (n.*6956C=)
c.745-4198C= (n.745-4198C=)
c.152-4198C=
n.328C=
c.7051C= (p.Arg2351=)
c.6856C= (p.Arg2286=)
c.7024C= (p.Arg2342=)
16g.89279389G>TCA397149158ANKRD11c.7153C>A (p.Arg2385Ser)
c.*6956C>A (n.*6956C>A)
c.745-4198C>A (n.745-4198C>A)
c.152-4198C>A
n.328C>A
c.7051C>A (p.Arg2351Ser)
c.6856C>A (p.Arg2286Ser)
c.7024C>A (p.Arg2342Ser)
16g.89279390C>ACA497372596ANKRD11c.7152G>T (p.Pro2384=)
c.*6955G>T (n.*6955G>T)
c.745-4199G>T (n.745-4199G>T)
c.152-4199G>T
n.327G>T
c.7050G>T (p.Pro2350=)
c.6855G>T (p.Pro2285=)
c.7023G>T (p.Pro2341=)
16g.89279390C=CA2241586680ANKRD11c.7152G= (p.Pro2384=)
c.*6955G= (n.*6955G=)
c.745-4199G= (n.745-4199G=)
c.152-4199G=
n.327G=
c.7050G= (p.Pro2350=)
c.6855G= (p.Pro2285=)
c.7023G= (p.Pro2341=)
16g.89279390C>GCA497372598ANKRD11c.7152G>C (p.Pro2384=)
c.*6955G>C (n.*6955G>C)
c.745-4199G>C (n.745-4199G>C)
c.152-4199G>C
n.327G>C
c.7050G>C (p.Pro2350=)
c.6855G>C (p.Pro2285=)
c.7023G>C (p.Pro2341=)
16g.89279390C>TCA497372599ANKRD11c.7152G>A (p.Pro2384=)
c.*6955G>A (n.*6955G>A)
c.745-4199G>A (n.745-4199G>A)
c.152-4199G>A
n.327G>A
c.7050G>A (p.Pro2350=)
c.6855G>A (p.Pro2285=)
c.7023G>A (p.Pro2341=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279391G>ACA397149164ANKRD11c.7151C>T (p.Pro2384Leu)
c.*6954C>T (n.*6954C>T)
c.745-4200C>T (n.745-4200C>T)
c.152-4200C>T
n.326C>T
c.7049C>T (p.Pro2350Leu)
c.6854C>T (p.Pro2285Leu)
c.7022C>T (p.Pro2341Leu)
 gnomAD v4
16g.89279391G>CCA397149166ANKRD11c.7151C>G (p.Pro2384Arg)
c.*6954C>G (n.*6954C>G)
c.745-4200C>G (n.745-4200C>G)
c.152-4200C>G
n.326C>G
c.7049C>G (p.Pro2350Arg)
c.6854C>G (p.Pro2285Arg)
c.7022C>G (p.Pro2341Arg)
16g.89279391G>TCA397149167ANKRD11c.7151C>A (p.Pro2384Gln)
c.*6954C>A (n.*6954C>A)
c.745-4200C>A (n.745-4200C>A)
c.152-4200C>A
n.326C>A
c.7049C>A (p.Pro2350Gln)
c.6854C>A (p.Pro2285Gln)
c.7022C>A (p.Pro2341Gln)
16g.89279392delCA2573152858ANKRD11c.7151del (p.Pro2384ArgfsTer17)
c.*6954del (n.*6954del)
c.745-4200del (n.745-4200del)
c.152-4200del
n.326del
c.7049del (p.Pro2350ArgfsTer17)
c.6854del (p.Pro2285ArgfsTer17)
c.7022del (p.Pro2341ArgfsTer17)
 dbSNP
16g.89279392G>ACA397149170ANKRD11c.7150C>T (p.Pro2384Ser)
c.*6953C>T (n.*6953C>T)
c.745-4201C>T (n.745-4201C>T)
c.152-4201C>T
n.325C>T
c.7048C>T (p.Pro2350Ser)
c.6853C>T (p.Pro2285Ser)
c.7021C>T (p.Pro2341Ser)
16g.89279392G>CCA397149172ANKRD11c.7150C>G (p.Pro2384Ala)
c.*6953C>G (n.*6953C>G)
c.745-4201C>G (n.745-4201C>G)
c.152-4201C>G
n.325C>G
c.7048C>G (p.Pro2350Ala)
c.6853C>G (p.Pro2285Ala)
c.7021C>G (p.Pro2341Ala)
16g.89279392G>TCA397149174ANKRD11c.7150C>A (p.Pro2384Thr)
c.*6953C>A (n.*6953C>A)
c.745-4201C>A (n.745-4201C>A)
c.152-4201C>A
n.325C>A
c.7048C>A (p.Pro2350Thr)
c.6853C>A (p.Pro2285Thr)
c.7021C>A (p.Pro2341Thr)
16g.89279392_89279393delinsTTCA2580613926ANKRD11c.7149_7150delinsAA (p.His2383_Pro2384delinsGlnThr)
c.*6952_*6953delinsAA (n.*6952_*6953delinsAA)
c.745-4202_745-4201delinsAA (n.745-4202_745-4201delinsAA)
c.152-4202_152-4201delinsAA
n.324_325delinsAA
c.7047_7048delinsAA (p.His2349_Pro2350delinsGlnThr)
c.6852_6853delinsAA (p.His2284_Pro2285delinsGlnThr)
c.7020_7021delinsAA (p.His2340_Pro2341delinsGlnThr)
 ClinVar
16g.89279393A=CA2241586681ANKRD11c.7149T= (p.His2383=)
c.*6952T= (n.*6952T=)
c.745-4202T= (n.745-4202T=)
c.152-4202T=
n.324T=
c.7047T= (p.His2349=)
c.6852T= (p.His2284=)
c.7020T= (p.His2340=)
16g.89279393A>CCA397149176ANKRD11c.7149T>G (p.His2383Gln)
c.*6952T>G (n.*6952T>G)
c.745-4202T>G (n.745-4202T>G)
c.152-4202T>G
n.324T>G
c.7047T>G (p.His2349Gln)
c.6852T>G (p.His2284Gln)
c.7020T>G (p.His2340Gln)
 dbSNP gnomAD v4
16g.89279393A>GCA497372605ANKRD11c.7149T>C (p.His2383=)
c.*6952T>C (n.*6952T>C)
c.745-4202T>C (n.745-4202T>C)
c.152-4202T>C
n.324T>C
c.7047T>C (p.His2349=)
c.6852T>C (p.His2284=)
c.7020T>C (p.His2340=)
16g.89279393A>TCA397149177ANKRD11c.7149T>A (p.His2383Gln)
c.*6952T>A (n.*6952T>A)
c.745-4202T>A (n.745-4202T>A)
c.152-4202T>A
n.324T>A
c.7047T>A (p.His2349Gln)
c.6852T>A (p.His2284Gln)
c.7020T>A (p.His2340Gln)
16g.89279394T>ACA397149179ANKRD11c.7148A>T (p.His2383Leu)
c.*6951A>T (n.*6951A>T)
c.745-4203A>T (n.745-4203A>T)
c.152-4203A>T
n.323A>T
c.7046A>T (p.His2349Leu)
c.6851A>T (p.His2284Leu)
c.7019A>T (p.His2340Leu)
16g.89279394T>CCA397149181ANKRD11c.7148A>G (p.His2383Arg)
c.*6951A>G (n.*6951A>G)
c.745-4203A>G (n.745-4203A>G)
c.152-4203A>G
n.323A>G
c.7046A>G (p.His2349Arg)
c.6851A>G (p.His2284Arg)
c.7019A>G (p.His2340Arg)
16g.89279394T>GCA397149183ANKRD11c.7148A>C (p.His2383Pro)
c.*6951A>C (n.*6951A>C)
c.745-4203A>C (n.745-4203A>C)
c.152-4203A>C
n.323A>C
c.7046A>C (p.His2349Pro)
c.6851A>C (p.His2284Pro)
c.7019A>C (p.His2340Pro)
16g.89279395G>ACA397149185ANKRD11c.7147C>T (p.His2383Tyr)
c.*6950C>T (n.*6950C>T)
c.745-4204C>T (n.745-4204C>T)
c.152-4204C>T
n.322C>T
c.7045C>T (p.His2349Tyr)
c.6850C>T (p.His2284Tyr)
c.7018C>T (p.His2340Tyr)
 ClinVar dbSNP gnomAD v4
16g.89279395G>CCA397149186ANKRD11c.7147C>G (p.His2383Asp)
c.*6950C>G (n.*6950C>G)
c.745-4204C>G (n.745-4204C>G)
c.152-4204C>G
n.322C>G
c.7045C>G (p.His2349Asp)
c.6850C>G (p.His2284Asp)
c.7018C>G (p.His2340Asp)
16g.89279395G=CA2241586682ANKRD11c.7147C= (p.His2383=)
c.*6950C= (n.*6950C=)
c.745-4204C= (n.745-4204C=)
c.152-4204C=
n.322C=
c.7045C= (p.His2349=)
c.6850C= (p.His2284=)
c.7018C= (p.His2340=)
16g.89279395G>TCA397149188ANKRD11c.7147C>A (p.His2383Asn)
c.*6950C>A (n.*6950C>A)
c.745-4204C>A (n.745-4204C>A)
c.152-4204C>A
n.322C>A
c.7045C>A (p.His2349Asn)
c.6850C>A (p.His2284Asn)
c.7018C>A (p.His2340Asn)
 gnomAD v4
16g.89279396C>ACA397149191ANKRD11c.7146G>T (p.Gln2382His)
c.*6949G>T (n.*6949G>T)
c.745-4205G>T (n.745-4205G>T)
c.152-4205G>T
n.321G>T
c.7044G>T (p.Gln2348His)
c.6849G>T (p.Gln2283His)
c.7017G>T (p.Gln2339His)
16g.89279396C>GCA397149190ANKRD11c.7146G>C (p.Gln2382His)
c.*6949G>C (n.*6949G>C)
c.745-4205G>C (n.745-4205G>C)
c.152-4205G>C
n.321G>C
c.7044G>C (p.Gln2348His)
c.6849G>C (p.Gln2283His)
c.7017G>C (p.Gln2339His)
16g.89279396C>TCA497372608ANKRD11c.7146G>A (p.Gln2382=)
c.*6949G>A (n.*6949G>A)
c.745-4205G>A (n.745-4205G>A)
c.152-4205G>A
n.321G>A
c.7044G>A (p.Gln2348=)
c.6849G>A (p.Gln2283=)
c.7017G>A (p.Gln2339=)
 gnomAD v4
16g.89279397T>ACA397149193ANKRD11c.7145A>T (p.Gln2382Leu)
c.*6948A>T (n.*6948A>T)
c.745-4206A>T (n.745-4206A>T)
c.152-4206A>T
n.320A>T
c.7043A>T (p.Gln2348Leu)
c.6848A>T (p.Gln2283Leu)
c.7016A>T (p.Gln2339Leu)
16g.89279397T>CCA397149195ANKRD11c.7145A>G (p.Gln2382Arg)
c.*6948A>G (n.*6948A>G)
c.745-4206A>G (n.745-4206A>G)
c.152-4206A>G
n.320A>G
c.7043A>G (p.Gln2348Arg)
c.6848A>G (p.Gln2283Arg)
c.7016A>G (p.Gln2339Arg)
16g.89279397T>GCA397149196ANKRD11c.7145A>C (p.Gln2382Pro)
c.*6948A>C (n.*6948A>C)
c.745-4206A>C (n.745-4206A>C)
c.152-4206A>C
n.320A>C
c.7043A>C (p.Gln2348Pro)
c.6848A>C (p.Gln2283Pro)
c.7016A>C (p.Gln2339Pro)
16g.89279397T=CA2241586683ANKRD11c.7145A= (p.Gln2382=)
c.*6948A= (n.*6948A=)
c.745-4206A= (n.745-4206A=)
c.152-4206A=
n.320A=
c.7043A= (p.Gln2348=)
c.6848A= (p.Gln2283=)
c.7016A= (p.Gln2339=)
16g.89279398G>ACA397149199ANKRD11c.7144C>T (p.Gln2382Ter)
c.*6947C>T (n.*6947C>T)
c.745-4207C>T (n.745-4207C>T)
c.152-4207C>T
n.319C>T
c.7042C>T (p.Gln2348Ter)
c.6847C>T (p.Gln2283Ter)
c.7015C>T (p.Gln2339Ter)
 ClinVar dbSNP
16g.89279398G>CCA397149200ANKRD11c.7144C>G (p.Gln2382Glu)
c.*6947C>G (n.*6947C>G)
c.745-4207C>G (n.745-4207C>G)
c.152-4207C>G
n.319C>G
c.7042C>G (p.Gln2348Glu)
c.6847C>G (p.Gln2283Glu)
c.7015C>G (p.Gln2339Glu)
16g.89279398G>TCA397149202ANKRD11c.7144C>A (p.Gln2382Lys)
c.*6947C>A (n.*6947C>A)
c.745-4207C>A (n.745-4207C>A)
c.152-4207C>A
n.319C>A
c.7042C>A (p.Gln2348Lys)
c.6847C>A (p.Gln2283Lys)
c.7015C>A (p.Gln2339Lys)
16g.89279400dupCA915949406ANKRD11c.7144dup (p.Gln2382ProfsTer?)
c.*6947dup (n.*6947dup)
c.745-4207dup (n.745-4207dup)
c.152-4207dup
n.319dup
c.7042dup (p.Gln2348ProfsTer?)
c.6847dup (p.Gln2283ProfsTer?)
c.7015dup (p.Gln2339ProfsTer?)
 ClinVar dbSNP
16g.89279399G>ACA497372613ANKRD11c.7143C>T (p.Ala2381=)
c.*6946C>T (n.*6946C>T)
c.745-4208C>T (n.745-4208C>T)
c.152-4208C>T
n.318C>T
c.7041C>T (p.Ala2347=)
c.6846C>T (p.Ala2282=)
c.7014C>T (p.Ala2338=)
16g.89279399G>CCA497372615ANKRD11c.7143C>G (p.Ala2381=)
c.*6946C>G (n.*6946C>G)
c.745-4208C>G (n.745-4208C>G)
c.152-4208C>G
n.318C>G
c.7041C>G (p.Ala2347=)
c.6846C>G (p.Ala2282=)
c.7014C>G (p.Ala2338=)
 gnomAD v4
16g.89279399G=CA2241586684ANKRD11c.7143C= (p.Ala2381=)
c.*6946C= (n.*6946C=)
c.745-4208C= (n.745-4208C=)
c.152-4208C=
n.318C=
c.7041C= (p.Ala2347=)
c.6846C= (p.Ala2282=)
c.7014C= (p.Ala2338=)
16g.89279399G>TCA497372616ANKRD11c.7143C>A (p.Ala2381=)
c.*6946C>A (n.*6946C>A)
c.745-4208C>A (n.745-4208C>A)
c.152-4208C>A
n.318C>A
c.7041C>A (p.Ala2347=)
c.6846C>A (p.Ala2282=)
c.7014C>A (p.Ala2338=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279400G>ACA397149216ANKRD11c.7142C>T (p.Ala2381Val)
c.*6945C>T (n.*6945C>T)
c.745-4209C>T (n.745-4209C>T)
c.152-4209C>T
n.317C>T
c.7040C>T (p.Ala2347Val)
c.6845C>T (p.Ala2282Val)
c.7013C>T (p.Ala2338Val)
16g.89279400G>CCA397149212ANKRD11c.7142C>G (p.Ala2381Gly)
c.*6945C>G (n.*6945C>G)
c.745-4209C>G (n.745-4209C>G)
c.152-4209C>G
n.317C>G
c.7040C>G (p.Ala2347Gly)
c.6845C>G (p.Ala2282Gly)
c.7013C>G (p.Ala2338Gly)
16g.89279400G>TCA397149214ANKRD11c.7142C>A (p.Ala2381Asp)
c.*6945C>A (n.*6945C>A)
c.745-4209C>A (n.745-4209C>A)
c.152-4209C>A
n.317C>A
c.7040C>A (p.Ala2347Asp)
c.6845C>A (p.Ala2282Asp)
c.7013C>A (p.Ala2338Asp)
16g.89279401C>ACA397149217ANKRD11c.7141G>T (p.Ala2381Ser)
c.*6944G>T (n.*6944G>T)
c.745-4210G>T (n.745-4210G>T)
c.152-4210G>T
n.316G>T
c.7039G>T (p.Ala2347Ser)
c.6844G>T (p.Ala2282Ser)
c.7012G>T (p.Ala2338Ser)
 gnomAD v4
16g.89279401C=CA2241586685ANKRD11c.7141G= (p.Ala2381=)
c.*6944G= (n.*6944G=)
c.745-4210G= (n.745-4210G=)
c.152-4210G=
n.316G=
c.7039G= (p.Ala2347=)
c.6844G= (p.Ala2282=)
c.7012G= (p.Ala2338=)
16g.89279401C>GCA397149218ANKRD11c.7141G>C (p.Ala2381Pro)
c.*6944G>C (n.*6944G>C)
c.745-4210G>C (n.745-4210G>C)
c.152-4210G>C
n.316G>C
c.7039G>C (p.Ala2347Pro)
c.6844G>C (p.Ala2282Pro)
c.7012G>C (p.Ala2338Pro)
 gnomAD v4
16g.89279401C>TCA286509474ANKRD11c.7141G>A (p.Ala2381Thr)
c.*6944G>A (n.*6944G>A)
c.745-4210G>A (n.745-4210G>A)
c.152-4210G>A
n.316G>A
c.7039G>A (p.Ala2347Thr)
c.6844G>A (p.Ala2282Thr)
c.7012G>A (p.Ala2338Thr)
 dbSNP gnomAD v4
16g.89279402C>ACA397149223ANKRD11c.7140G>T (p.Gln2380His)
c.*6943G>T (n.*6943G>T)
c.745-4211G>T (n.745-4211G>T)
c.152-4211G>T
n.315G>T
c.7038G>T (p.Gln2346His)
c.6843G>T (p.Gln2281His)
c.7011G>T (p.Gln2337His)
16g.89279402C=CA2241586686ANKRD11c.7140G= (p.Gln2380=)
c.*6943G= (n.*6943G=)
c.745-4211G= (n.745-4211G=)
c.152-4211G=
n.315G=
c.7038G= (p.Gln2346=)
c.6843G= (p.Gln2281=)
c.7011G= (p.Gln2337=)
16g.89279402C>GCA397149225ANKRD11c.7140G>C (p.Gln2380His)
c.*6943G>C (n.*6943G>C)
c.745-4211G>C (n.745-4211G>C)
c.152-4211G>C
n.315G>C
c.7038G>C (p.Gln2346His)
c.6843G>C (p.Gln2281His)
c.7011G>C (p.Gln2337His)
16g.89279402C>TCA497372622ANKRD11c.7140G>A (p.Gln2380=)
c.*6943G>A (n.*6943G>A)
c.745-4211G>A (n.745-4211G>A)
c.152-4211G>A
n.315G>A
c.7038G>A (p.Gln2346=)
c.6843G>A (p.Gln2281=)
c.7011G>A (p.Gln2337=)
 dbSNP
16g.89279403T>ACA397149226ANKRD11c.7139A>T (p.Gln2380Leu)
c.*6942A>T (n.*6942A>T)
c.745-4212A>T (n.745-4212A>T)
c.152-4212A>T
n.314A>T
c.7037A>T (p.Gln2346Leu)
c.6842A>T (p.Gln2281Leu)
c.7010A>T (p.Gln2337Leu)
16g.89279403T>CCA397149230ANKRD11c.7139A>G (p.Gln2380Arg)
c.*6942A>G (n.*6942A>G)
c.745-4212A>G (n.745-4212A>G)
c.152-4212A>G
n.314A>G
c.7037A>G (p.Gln2346Arg)
c.6842A>G (p.Gln2281Arg)
c.7010A>G (p.Gln2337Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279403T>GCA397149228ANKRD11c.7139A>C (p.Gln2380Pro)
c.*6942A>C (n.*6942A>C)
c.745-4212A>C (n.745-4212A>C)
c.152-4212A>C
n.314A>C
c.7037A>C (p.Gln2346Pro)
c.6842A>C (p.Gln2281Pro)
c.7010A>C (p.Gln2337Pro)
16g.89279403T=CA2241586687ANKRD11c.7139A= (p.Gln2380=)
c.*6942A= (n.*6942A=)
c.745-4212A= (n.745-4212A=)
c.152-4212A=
n.314A=
c.7037A= (p.Gln2346=)
c.6842A= (p.Gln2281=)
c.7010A= (p.Gln2337=)
16g.89279404G>ACA16608326ANKRD11c.7138C>T (p.Gln2380Ter)
c.*6941C>T (n.*6941C>T)
c.745-4213C>T (n.745-4213C>T)
c.152-4213C>T
n.313C>T
c.7036C>T (p.Gln2346Ter)
c.6841C>T (p.Gln2281Ter)
c.7009C>T (p.Gln2337Ter)
 ClinVar dbSNP
16g.89279404G>CCA397149232ANKRD11c.7138C>G (p.Gln2380Glu)
c.*6941C>G (n.*6941C>G)
c.745-4213C>G (n.745-4213C>G)
c.152-4213C>G
n.313C>G
c.7036C>G (p.Gln2346Glu)
c.6841C>G (p.Gln2281Glu)
c.7009C>G (p.Gln2337Glu)
 gnomAD v4
16g.89279404G=CA2241586688ANKRD11c.7138C= (p.Gln2380=)
c.*6941C= (n.*6941C=)
c.745-4213C= (n.745-4213C=)
c.152-4213C=
n.313C=
c.7036C= (p.Gln2346=)
c.6841C= (p.Gln2281=)
c.7009C= (p.Gln2337=)
16g.89279404G>TCA397149233ANKRD11c.7138C>A (p.Gln2380Lys)
c.*6941C>A (n.*6941C>A)
c.745-4213C>A (n.745-4213C>A)
c.152-4213C>A
n.313C>A
c.7036C>A (p.Gln2346Lys)
c.6841C>A (p.Gln2281Lys)
c.7009C>A (p.Gln2337Lys)
16g.89279404_89279434delinsGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTTCA2241586689ANKRD11c.7108_7138delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2370=)
c.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC)
c.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC)
c.152-4243_152-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC
n.283_313delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC
c.7006_7036delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2336=)
c.6811_6841delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2271=)
c.6979_7009delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2327=)
16g.89279405G>ACA497372624ANKRD11c.7137C>T (p.Ala2379=)
c.*6940C>T (n.*6940C>T)
c.745-4214C>T (n.745-4214C>T)
c.152-4214C>T
n.312C>T
c.7035C>T (p.Ala2345=)
c.6840C>T (p.Ala2280=)
c.7008C>T (p.Ala2336=)
16g.89279405G>CCA497372625ANKRD11c.7137C>G (p.Ala2379=)
c.*6940C>G (n.*6940C>G)
c.745-4214C>G (n.745-4214C>G)
c.152-4214C>G
n.312C>G
c.7035C>G (p.Ala2345=)
c.6840C>G (p.Ala2280=)
c.7008C>G (p.Ala2336=)
16g.89279405G>TCA497372626ANKRD11c.7137C>A (p.Ala2379=)
c.*6940C>A (n.*6940C>A)
c.745-4214C>A (n.745-4214C>A)
c.152-4214C>A
n.312C>A
c.7035C>A (p.Ala2345=)
c.6840C>A (p.Ala2280=)
c.7008C>A (p.Ala2336=)
16g.89279405_89279407delinsGGCCA2241586691ANKRD11c.7135_7137delinsGCC (p.Ala2379=)
c.*6938_*6940delinsGCC (n.*6938_*6940delinsGCC)
c.745-4216_745-4214delinsGCC (n.745-4216_745-4214delinsGCC)
c.152-4216_152-4214delinsGCC
n.310_312delinsGCC
c.7033_7035delinsGCC (p.Ala2345=)
c.6838_6840delinsGCC (p.Ala2280=)
c.7006_7008delinsGCC (p.Ala2336=)
16g.89279408_89279437delCA2241586690ANKRD11c.7108_7137del (p.Lys2370_Ala2379del)
c.*6911_*6940del (n.*6911_*6940del)
c.745-4243_745-4214del (n.745-4243_745-4214del)
c.152-4243_152-4214del
n.283_312del
c.7006_7035del (p.Lys2336_Ala2345del)
c.6811_6840del (p.Lys2271_Ala2280del)
c.6979_7008del (p.Lys2327_Ala2336del)
 dbSNP
16g.89279406G>ACA397149236ANKRD11c.7136C>T (p.Ala2379Val)
c.*6939C>T (n.*6939C>T)
c.745-4215C>T (n.745-4215C>T)
c.152-4215C>T
n.311C>T
c.7034C>T (p.Ala2345Val)
c.6839C>T (p.Ala2280Val)
c.7007C>T (p.Ala2336Val)
 gnomAD v4
16g.89279406G>CCA286509479ANKRD11c.7136C>G (p.Ala2379Gly)
c.*6939C>G (n.*6939C>G)
c.745-4215C>G (n.745-4215C>G)
c.152-4215C>G
n.311C>G
c.7034C>G (p.Ala2345Gly)
c.6839C>G (p.Ala2280Gly)
c.7007C>G (p.Ala2336Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279406G=CA2241586693ANKRD11c.7136C= (p.Ala2379=)
c.*6939C= (n.*6939C=)
c.745-4215C= (n.745-4215C=)
c.152-4215C=
n.311C=
c.7034C= (p.Ala2345=)
c.6839C= (p.Ala2280=)
c.7007C= (p.Ala2336=)
16g.89279406G>TCA397149239ANKRD11c.7136C>A (p.Ala2379Asp)
c.*6939C>A (n.*6939C>A)
c.745-4215C>A (n.745-4215C>A)
c.152-4215C>A
n.311C>A
c.7034C>A (p.Ala2345Asp)
c.6839C>A (p.Ala2280Asp)
c.7007C>A (p.Ala2336Asp)
 gnomAD v4
16g.89279407_89279408delCA980389759ANKRD11c.7135_7136del (p.Ala2379ProfsTer?)
c.*6938_*6939del (n.*6938_*6939del)
c.745-4216_745-4215del (n.745-4216_745-4215del)
c.152-4216_152-4215del
n.310_311del
c.7033_7034del (p.Ala2345ProfsTer?)
c.6838_6839del (p.Ala2280ProfsTer?)
c.7006_7007del (p.Ala2336ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
16g.89279406_89279409delinsGCGTCA2241586692ANKRD11c.7133_7136delinsACGC (p.Asp2378=)
c.*6936_*6939delinsACGC (n.*6936_*6939delinsACGC)
c.745-4218_745-4215delinsACGC (n.745-4218_745-4215delinsACGC)
c.152-4218_152-4215delinsACGC
n.308_311delinsACGC
c.7031_7034delinsACGC (p.Asp2344=)
c.6836_6839delinsACGC (p.Asp2279=)
c.7004_7007delinsACGC (p.Asp2335=)
16g.89279407C>ACA397149242ANKRD11c.7135G>T (p.Ala2379Ser)
c.*6938G>T (n.*6938G>T)
c.745-4216G>T (n.745-4216G>T)
c.152-4216G>T
n.310G>T
c.7033G>T (p.Ala2345Ser)
c.6838G>T (p.Ala2280Ser)
c.7006G>T (p.Ala2336Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279407C=CA2241586694ANKRD11c.7135G= (p.Ala2379=)
c.*6938G= (n.*6938G=)
c.745-4216G= (n.745-4216G=)
c.152-4216G=
n.310G=
c.7033G= (p.Ala2345=)
c.6838G= (p.Ala2280=)
c.7006G= (p.Ala2336=)
16g.89279407C>GCA397149244ANKRD11c.7135G>C (p.Ala2379Pro)
c.*6938G>C (n.*6938G>C)
c.745-4216G>C (n.745-4216G>C)
c.152-4216G>C
n.310G>C
c.7033G>C (p.Ala2345Pro)
c.6838G>C (p.Ala2280Pro)
c.7006G>C (p.Ala2336Pro)
16g.89279407C>TCA397149246ANKRD11c.7135G>A (p.Ala2379Thr)
c.*6938G>A (n.*6938G>A)
c.745-4216G>A (n.745-4216G>A)
c.152-4216G>A
n.310G>A
c.7033G>A (p.Ala2345Thr)
c.6838G>A (p.Ala2280Thr)
c.7006G>A (p.Ala2336Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.89279414_89279416dupCA2808088001ANKRD11c.7133_7135dup (p.Asp2378_Ala2379insAsp)
c.*6936_*6938dup (n.*6936_*6938dup)
c.745-4218_745-4216dup (n.745-4218_745-4216dup)
c.152-4218_152-4216dup
n.308_310dup
c.7031_7033dup (p.Asp2344_Ala2345insAsp)
c.6836_6838dup (p.Asp2279_Ala2280insAsp)
c.7004_7006dup (p.Asp2335_Ala2336insAsp)
16g.89279414_89279416delCA8241290ANKRD11c.7133_7135del (p.Asp2378del)
c.*6936_*6938del (n.*6936_*6938del)
c.745-4218_745-4216del (n.745-4218_745-4216del)
c.152-4218_152-4216del
n.308_310del
c.7031_7033del (p.Asp2344del)
c.6836_6838del (p.Asp2279del)
c.7004_7006del (p.Asp2335del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89279408G>ACA497372637ANKRD11c.7134C>T (p.Asp2378=)
c.*6937C>T (n.*6937C>T)
c.745-4217C>T (n.745-4217C>T)
c.152-4217C>T
n.309C>T
c.7032C>T (p.Asp2344=)
c.6837C>T (p.Asp2279=)
c.7005C>T (p.Asp2335=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279408G>CCA397149249ANKRD11c.7134C>G (p.Asp2378Glu)
c.*6937C>G (n.*6937C>G)
c.745-4217C>G (n.745-4217C>G)
c.152-4217C>G
n.309C>G
c.7032C>G (p.Asp2344Glu)
c.6837C>G (p.Asp2279Glu)
c.7005C>G (p.Asp2335Glu)
16g.89279408G=CA2241586695ANKRD11c.7134C= (p.Asp2378=)
c.*6937C= (n.*6937C=)
c.745-4217C= (n.745-4217C=)
c.152-4217C=
n.309C=
c.7032C= (p.Asp2344=)
c.6837C= (p.Asp2279=)
c.7005C= (p.Asp2335=)
16g.89279408G>TCA397149251ANKRD11c.7134C>A (p.Asp2378Glu)
c.*6937C>A (n.*6937C>A)
c.745-4217C>A (n.745-4217C>A)
c.152-4217C>A
n.309C>A
c.7032C>A (p.Asp2344Glu)
c.6837C>A (p.Asp2279Glu)
c.7005C>A (p.Asp2335Glu)
16g.89279409T>ACA397149254ANKRD11c.7133A>T (p.Asp2378Val)
c.*6936A>T (n.*6936A>T)
c.745-4218A>T (n.745-4218A>T)
c.152-4218A>T
n.308A>T
c.7031A>T (p.Asp2344Val)
c.6836A>T (p.Asp2279Val)
c.7004A>T (p.Asp2335Val)
16g.89279409T>CCA397149253ANKRD11c.7133A>G (p.Asp2378Gly)
c.*6936A>G (n.*6936A>G)
c.745-4218A>G (n.745-4218A>G)
c.152-4218A>G
n.308A>G
c.7031A>G (p.Asp2344Gly)
c.6836A>G (p.Asp2279Gly)
c.7004A>G (p.Asp2335Gly)
 gnomAD v4
16g.89279409T>GCA8241291ANKRD11c.7133A>C (p.Asp2378Ala)
c.*6936A>C (n.*6936A>C)
c.745-4218A>C (n.745-4218A>C)
c.152-4218A>C
n.308A>C
c.7031A>C (p.Asp2344Ala)
c.6836A>C (p.Asp2279Ala)
c.7004A>C (p.Asp2335Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279409T=CA2241586696ANKRD11c.7133A= (p.Asp2378=)
c.*6936A= (n.*6936A=)
c.745-4218A= (n.745-4218A=)
c.152-4218A=
n.308A=
c.7031A= (p.Asp2344=)
c.6836A= (p.Asp2279=)
c.7004A= (p.Asp2335=)
16g.89279409_89279410delinsTCCA2241586697ANKRD11c.7132_7133delinsGA (p.Asp2378=)
c.*6935_*6936delinsGA (n.*6935_*6936delinsGA)
c.745-4219_745-4218delinsGA (n.745-4219_745-4218delinsGA)
c.152-4219_152-4218delinsGA
n.307_308delinsGA
c.7030_7031delinsGA (p.Asp2344=)
c.6835_6836delinsGA (p.Asp2279=)
c.7003_7004delinsGA (p.Asp2335=)
16g.89279410delCA980389764ANKRD11c.7132del (p.Asp2378ThrfsTer23)
c.*6935del (n.*6935del)
c.745-4219del (n.745-4219del)
c.152-4219del
n.307del
c.7030del (p.Asp2344ThrfsTer23)
c.6835del (p.Asp2279ThrfsTer23)
c.7003del (p.Asp2335ThrfsTer23)
 dbSNP gnomAD v3 gnomAD v4
16g.89279410C>ACA397149256ANKRD11c.7132G>T (p.Asp2378Tyr)
c.*6935G>T (n.*6935G>T)
c.745-4219G>T (n.745-4219G>T)
c.152-4219G>T
n.307G>T
c.7030G>T (p.Asp2344Tyr)
c.6835G>T (p.Asp2279Tyr)
c.7003G>T (p.Asp2335Tyr)
 gnomAD v4
16g.89279410C=CA2241586698ANKRD11c.7132G= (p.Asp2378=)
c.*6935G= (n.*6935G=)
c.745-4219G= (n.745-4219G=)
c.152-4219G=
n.307G=
c.7030G= (p.Asp2344=)
c.6835G= (p.Asp2279=)
c.7003G= (p.Asp2335=)
16g.89279410C>GCA397149258ANKRD11c.7132G>C (p.Asp2378His)
c.*6935G>C (n.*6935G>C)
c.745-4219G>C (n.745-4219G>C)
c.152-4219G>C
n.307G>C
c.7030G>C (p.Asp2344His)
c.6835G>C (p.Asp2279His)
c.7003G>C (p.Asp2335His)
16g.89279410C>TCA286509486ANKRD11c.7132G>A (p.Asp2378Asn)
c.*6935G>A (n.*6935G>A)
c.745-4219G>A (n.745-4219G>A)
c.152-4219G>A
n.307G>A
c.7030G>A (p.Asp2344Asn)
c.6835G>A (p.Asp2279Asn)
c.7003G>A (p.Asp2335Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279411G>ACA286509489ANKRD11c.7131C>T (p.Asp2377=)
c.*6934C>T (n.*6934C>T)
c.745-4220C>T (n.745-4220C>T)
c.152-4220C>T
n.306C>T
c.7029C>T (p.Asp2343=)
c.6834C>T (p.Asp2278=)
c.7002C>T (p.Asp2334=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89279411G>CCA397149261ANKRD11c.7131C>G (p.Asp2377Glu)
c.*6934C>G (n.*6934C>G)
c.745-4220C>G (n.745-4220C>G)
c.152-4220C>G
n.306C>G
c.7029C>G (p.Asp2343Glu)
c.6834C>G (p.Asp2278Glu)
c.7002C>G (p.Asp2334Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89279411G=CA2241586699ANKRD11c.7131C= (p.Asp2377=)
c.*6934C= (n.*6934C=)
c.745-4220C= (n.745-4220C=)
c.152-4220C=
n.306C=
c.7029C= (p.Asp2343=)
c.6834C= (p.Asp2278=)
c.7002C= (p.Asp2334=)
16g.89279411G>TCA397149262ANKRD11c.7131C>A (p.Asp2377Glu)
c.*6934C>A (n.*6934C>A)
c.745-4220C>A (n.745-4220C>A)
c.152-4220C>A
n.306C>A
c.7029C>A (p.Asp2343Glu)
c.6834C>A (p.Asp2278Glu)
c.7002C>A (p.Asp2334Glu)
 dbSNP gnomAD v3 gnomAD v4
16g.89279412T>ACA397149263ANKRD11c.7130A>T (p.Asp2377Val)
c.*6933A>T (n.*6933A>T)
c.745-4221A>T (n.745-4221A>T)
c.152-4221A>T
n.305A>T
c.7028A>T (p.Asp2343Val)
c.6833A>T (p.Asp2278Val)
c.7001A>T (p.Asp2334Val)
 dbSNP gnomAD v4
16g.89279412T>CCA397149264ANKRD11c.7130A>G (p.Asp2377Gly)
c.*6933A>G (n.*6933A>G)
c.745-4221A>G (n.745-4221A>G)
c.152-4221A>G
n.305A>G
c.7028A>G (p.Asp2343Gly)
c.6833A>G (p.Asp2278Gly)
c.7001A>G (p.Asp2334Gly)
16g.89279412T>GCA397149265ANKRD11c.7130A>C (p.Asp2377Ala)
c.*6933A>C (n.*6933A>C)
c.745-4221A>C (n.745-4221A>C)
c.152-4221A>C
n.305A>C
c.7028A>C (p.Asp2343Ala)
c.6833A>C (p.Asp2278Ala)
c.7001A>C (p.Asp2334Ala)
 gnomAD v4
16g.89279412T=CA2241586700ANKRD11c.7130A= (p.Asp2377=)
c.*6933A= (n.*6933A=)
c.745-4221A= (n.745-4221A=)
c.152-4221A=
n.305A=
c.7028A= (p.Asp2343=)
c.6833A= (p.Asp2278=)
c.7001A= (p.Asp2334=)
16g.89279413C>ACA286509492ANKRD11c.7129G>T (p.Asp2377Tyr)
c.*6932G>T (n.*6932G>T)
c.745-4222G>T (n.745-4222G>T)
c.152-4222G>T
n.304G>T
c.7027G>T (p.Asp2343Tyr)
c.6832G>T (p.Asp2278Tyr)
c.7000G>T (p.Asp2334Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279413C=CA2241586701ANKRD11c.7129G= (p.Asp2377=)
c.*6932G= (n.*6932G=)
c.745-4222G= (n.745-4222G=)
c.152-4222G=
n.304G=
c.7027G= (p.Asp2343=)
c.6832G= (p.Asp2278=)
c.7000G= (p.Asp2334=)
16g.89279413C>GCA397149266ANKRD11c.7129G>C (p.Asp2377His)
c.*6932G>C (n.*6932G>C)
c.745-4222G>C (n.745-4222G>C)
c.152-4222G>C
n.304G>C
c.7027G>C (p.Asp2343His)
c.6832G>C (p.Asp2278His)
c.7000G>C (p.Asp2334His)
16g.89279413C>TCA397149267ANKRD11c.7129G>A (p.Asp2377Asn)
c.*6932G>A (n.*6932G>A)
c.745-4222G>A (n.745-4222G>A)
c.152-4222G>A
n.304G>A
c.7027G>A (p.Asp2343Asn)
c.6832G>A (p.Asp2278Asn)
c.7000G>A (p.Asp2334Asn)
16g.89279413_89279414delinsACCA2740093464ANKRD11c.7128_7129delinsGT (p.Asp2376_Asp2377delinsGluTyr)
c.*6931_*6932delinsGT (n.*6931_*6932delinsGT)
c.745-4223_745-4222delinsGT (n.745-4223_745-4222delinsGT)
c.152-4223_152-4222delinsGT
n.303_304delinsGT
c.7026_7027delinsGT (p.Asp2342_Asp2343delinsGluTyr)
c.6831_6832delinsGT (p.Asp2277_Asp2278delinsGluTyr)
c.6999_7000delinsGT (p.Asp2333_Asp2334delinsGluTyr)
 ClinVar
16g.89279414G>ACA497372642ANKRD11c.7128C>T (p.Asp2376=)
c.*6931C>T (n.*6931C>T)
c.745-4223C>T (n.745-4223C>T)
c.152-4223C>T
n.303C>T
c.7026C>T (p.Asp2342=)
c.6831C>T (p.Asp2277=)
c.6999C>T (p.Asp2333=)
 ClinVar dbSNP gnomAD v4
16g.89279414G>CCA8241292ANKRD11c.7128C>G (p.Asp2376Glu)
c.*6931C>G (n.*6931C>G)
c.745-4223C>G (n.745-4223C>G)
c.152-4223C>G
n.303C>G
c.7026C>G (p.Asp2342Glu)
c.6831C>G (p.Asp2277Glu)
c.6999C>G (p.Asp2333Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279414G=CA2241586702ANKRD11c.7128C= (p.Asp2376=)
c.*6931C= (n.*6931C=)
c.745-4223C= (n.745-4223C=)
c.152-4223C=
n.303C=
c.7026C= (p.Asp2342=)
c.6831C= (p.Asp2277=)
c.6999C= (p.Asp2333=)
16g.89279414G>TCA397149268ANKRD11c.7128C>A (p.Asp2376Glu)
c.*6931C>A (n.*6931C>A)
c.745-4223C>A (n.745-4223C>A)
c.152-4223C>A
n.303C>A
c.7026C>A (p.Asp2342Glu)
c.6831C>A (p.Asp2277Glu)
c.6999C>A (p.Asp2333Glu)
16g.89279415T>ACA397149271ANKRD11c.7127A>T (p.Asp2376Val)
c.*6930A>T (n.*6930A>T)
c.745-4224A>T (n.745-4224A>T)
c.152-4224A>T
n.302A>T
c.7025A>T (p.Asp2342Val)
c.6830A>T (p.Asp2277Val)
c.6998A>T (p.Asp2333Val)
16g.89279415T>CCA397149269ANKRD11c.7127A>G (p.Asp2376Gly)
c.*6930A>G (n.*6930A>G)
c.745-4224A>G (n.745-4224A>G)
c.152-4224A>G
n.302A>G
c.7025A>G (p.Asp2342Gly)
c.6830A>G (p.Asp2277Gly)
c.6998A>G (p.Asp2333Gly)
 gnomAD v4
16g.89279415T>GCA397149270ANKRD11c.7127A>C (p.Asp2376Ala)
c.*6930A>C (n.*6930A>C)
c.745-4224A>C (n.745-4224A>C)
c.152-4224A>C
n.302A>C
c.7025A>C (p.Asp2342Ala)
c.6830A>C (p.Asp2277Ala)
c.6998A>C (p.Asp2333Ala)
16g.89279417_89279419dupCA8241293ANKRD11c.7125_7127dup (p.Glu2375_Asp2376insGlu)
c.*6928_*6930dup (n.*6928_*6930dup)
c.745-4226_745-4224dup (n.745-4226_745-4224dup)
c.152-4226_152-4224dup
n.300_302dup
c.7023_7025dup (p.Glu2341_Asp2342insGlu)
c.6828_6830dup (p.Glu2276_Asp2277insGlu)
c.6996_6998dup (p.Glu2332_Asp2333insGlu)
 dbSNP ExAC
16g.89279416C>ACA397149273ANKRD11c.7126G>T (p.Asp2376Tyr)
c.*6929G>T (n.*6929G>T)
c.745-4225G>T (n.745-4225G>T)
c.152-4225G>T
n.301G>T
c.7024G>T (p.Asp2342Tyr)
c.6829G>T (p.Asp2277Tyr)
c.6997G>T (p.Asp2333Tyr)
16g.89279416C>GCA397149272ANKRD11c.7126G>C (p.Asp2376His)
c.*6929G>C (n.*6929G>C)
c.745-4225G>C (n.745-4225G>C)
c.152-4225G>C
n.301G>C
c.7024G>C (p.Asp2342His)
c.6829G>C (p.Asp2277His)
c.6997G>C (p.Asp2333His)
16g.89279416C>TCA397149274ANKRD11c.7126G>A (p.Asp2376Asn)
c.*6929G>A (n.*6929G>A)
c.745-4225G>A (n.745-4225G>A)
c.152-4225G>A
n.301G>A
c.7024G>A (p.Asp2342Asn)
c.6829G>A (p.Asp2277Asn)
c.6997G>A (p.Asp2333Asn)
16g.89279417C>ACA397149275ANKRD11c.7125G>T (p.Glu2375Asp)
c.*6928G>T (n.*6928G>T)
c.745-4226G>T (n.745-4226G>T)
c.152-4226G>T
n.300G>T
c.7023G>T (p.Glu2341Asp)
c.6828G>T (p.Glu2276Asp)
c.6996G>T (p.Glu2332Asp)
16g.89279417C>GCA397149276ANKRD11c.7125G>C (p.Glu2375Asp)
c.*6928G>C (n.*6928G>C)
c.745-4226G>C (n.745-4226G>C)
c.152-4226G>C
n.300G>C
c.7023G>C (p.Glu2341Asp)
c.6828G>C (p.Glu2276Asp)
c.6996G>C (p.Glu2332Asp)
16g.89279417C>TCA497372648ANKRD11c.7125G>A (p.Glu2375=)
c.*6928G>A (n.*6928G>A)
c.745-4226G>A (n.745-4226G>A)
c.152-4226G>A
n.300G>A
c.7023G>A (p.Glu2341=)
c.6828G>A (p.Glu2276=)
c.6996G>A (p.Glu2332=)
16g.89279418T>ACA397149277ANKRD11c.7124A>T (p.Glu2375Val)
c.*6927A>T (n.*6927A>T)
c.745-4227A>T (n.745-4227A>T)
c.152-4227A>T
n.299A>T
c.7022A>T (p.Glu2341Val)
c.6827A>T (p.Glu2276Val)
c.6995A>T (p.Glu2332Val)
16g.89279418T>CCA397149278ANKRD11c.7124A>G (p.Glu2375Gly)
c.*6927A>G (n.*6927A>G)
c.745-4227A>G (n.745-4227A>G)
c.152-4227A>G
n.299A>G
c.7022A>G (p.Glu2341Gly)
c.6827A>G (p.Glu2276Gly)
c.6995A>G (p.Glu2332Gly)
16g.89279418T>GCA397149279ANKRD11c.7124A>C (p.Glu2375Ala)
c.*6927A>C (n.*6927A>C)
c.745-4227A>C (n.745-4227A>C)
c.152-4227A>C
n.299A>C
c.7022A>C (p.Glu2341Ala)
c.6827A>C (p.Glu2276Ala)
c.6995A>C (p.Glu2332Ala)
16g.89279419C>ACA397149280ANKRD11c.7123G>T (p.Glu2375Ter)
c.*6926G>T (n.*6926G>T)
c.745-4228G>T (n.745-4228G>T)
c.152-4228G>T
n.298G>T
c.7021G>T (p.Glu2341Ter)
c.6826G>T (p.Glu2276Ter)
c.6994G>T (p.Glu2332Ter)
16g.89279419C=CA2241586703ANKRD11c.7123G= (p.Glu2375=)
c.*6926G= (n.*6926G=)
c.745-4228G= (n.745-4228G=)
c.152-4228G=
n.298G=
c.7021G= (p.Glu2341=)
c.6826G= (p.Glu2276=)
c.6994G= (p.Glu2332=)
16g.89279419C>GCA397149281ANKRD11c.7123G>C (p.Glu2375Gln)
c.*6926G>C (n.*6926G>C)
c.745-4228G>C (n.745-4228G>C)
c.152-4228G>C
n.298G>C
c.7021G>C (p.Glu2341Gln)
c.6826G>C (p.Glu2276Gln)
c.6994G>C (p.Glu2332Gln)
16g.89279419C>TCA397149282ANKRD11c.7123G>A (p.Glu2375Lys)
c.*6926G>A (n.*6926G>A)
c.745-4228G>A (n.745-4228G>A)
c.152-4228G>A
n.298G>A
c.7021G>A (p.Glu2341Lys)
c.6826G>A (p.Glu2276Lys)
c.6994G>A (p.Glu2332Lys)
 dbSNP gnomAD v2 gnomAD v4
16g.89279420G>ACA497372654ANKRD11c.7122C>T (p.Ser2374=)
c.*6925C>T (n.*6925C>T)
c.745-4229C>T (n.745-4229C>T)
c.152-4229C>T
n.297C>T
c.7020C>T (p.Ser2340=)
c.6825C>T (p.Ser2275=)
c.6993C>T (p.Ser2331=)
 dbSNP gnomAD v4
16g.89279420G>CCA497372656ANKRD11c.7122C>G (p.Ser2374=)
c.*6925C>G (n.*6925C>G)
c.745-4229C>G (n.745-4229C>G)
c.152-4229C>G
n.297C>G
c.7020C>G (p.Ser2340=)
c.6825C>G (p.Ser2275=)
c.6993C>G (p.Ser2331=)
 gnomAD v4
16g.89279420G=CA2241586704ANKRD11c.7122C= (p.Ser2374=)
c.*6925C= (n.*6925C=)
c.745-4229C= (n.745-4229C=)
c.152-4229C=
n.297C=
c.7020C= (p.Ser2340=)
c.6825C= (p.Ser2275=)
c.6993C= (p.Ser2331=)
16g.89279420G>TCA497372657ANKRD11c.7122C>A (p.Ser2374=)
c.*6925C>A (n.*6925C>A)
c.745-4229C>A (n.745-4229C>A)
c.152-4229C>A
n.297C>A
c.7020C>A (p.Ser2340=)
c.6825C>A (p.Ser2275=)
c.6993C>A (p.Ser2331=)
 gnomAD v4
16g.89279421G>ACA397149283ANKRD11c.7121C>T (p.Ser2374Phe)
c.*6924C>T (n.*6924C>T)
c.745-4230C>T (n.745-4230C>T)
c.152-4230C>T
n.296C>T
c.7019C>T (p.Ser2340Phe)
c.6824C>T (p.Ser2275Phe)
c.6992C>T (p.Ser2331Phe)
16g.89279421G>CCA397149284ANKRD11c.7121C>G (p.Ser2374Cys)
c.*6924C>G (n.*6924C>G)
c.745-4230C>G (n.745-4230C>G)
c.152-4230C>G
n.296C>G
c.7019C>G (p.Ser2340Cys)
c.6824C>G (p.Ser2275Cys)
c.6992C>G (p.Ser2331Cys)
 dbSNP
16g.89279421G=CA2241586705ANKRD11c.7121C= (p.Ser2374=)
c.*6924C= (n.*6924C=)
c.745-4230C= (n.745-4230C=)
c.152-4230C=
n.296C=
c.7019C= (p.Ser2340=)
c.6824C= (p.Ser2275=)
c.6992C= (p.Ser2331=)
16g.89279421G>TCA397149285ANKRD11c.7121C>A (p.Ser2374Tyr)
c.*6924C>A (n.*6924C>A)
c.745-4230C>A (n.745-4230C>A)
c.152-4230C>A
n.296C>A
c.7019C>A (p.Ser2340Tyr)
c.6824C>A (p.Ser2275Tyr)
c.6992C>A (p.Ser2331Tyr)
16g.89279422A>CCA397149286ANKRD11c.7120T>G (p.Ser2374Ala)
c.*6923T>G (n.*6923T>G)
c.745-4231T>G (n.745-4231T>G)
c.152-4231T>G
n.295T>G
c.7018T>G (p.Ser2340Ala)
c.6823T>G (p.Ser2275Ala)
c.6991T>G (p.Ser2331Ala)
16g.89279422A>GCA397149287ANKRD11c.7120T>C (p.Ser2374Pro)
c.*6923T>C (n.*6923T>C)
c.745-4231T>C (n.745-4231T>C)
c.152-4231T>C
n.295T>C
c.7018T>C (p.Ser2340Pro)
c.6823T>C (p.Ser2275Pro)
c.6991T>C (p.Ser2331Pro)
16g.89279422A>TCA397149288ANKRD11c.7120T>A (p.Ser2374Thr)
c.*6923T>A (n.*6923T>A)
c.745-4231T>A (n.745-4231T>A)
c.152-4231T>A
n.295T>A
c.7018T>A (p.Ser2340Thr)
c.6823T>A (p.Ser2275Thr)
c.6991T>A (p.Ser2331Thr)
16g.89279423G>ACA497372664ANKRD11c.7119C>T (p.Gly2373=)
c.*6922C>T (n.*6922C>T)
c.745-4232C>T (n.745-4232C>T)
c.152-4232C>T
n.294C>T
c.7017C>T (p.Gly2339=)
c.6822C>T (p.Gly2274=)
c.6990C>T (p.Gly2330=)
 dbSNP gnomAD v4
16g.89279423G>CCA497372659ANKRD11c.7119C>G (p.Gly2373=)
c.*6922C>G (n.*6922C>G)
c.745-4232C>G (n.745-4232C>G)
c.152-4232C>G
n.294C>G
c.7017C>G (p.Gly2339=)
c.6822C>G (p.Gly2274=)
c.6990C>G (p.Gly2330=)
16g.89279423G=CA2241586706ANKRD11c.7119C= (p.Gly2373=)
c.*6922C= (n.*6922C=)
c.745-4232C= (n.745-4232C=)
c.152-4232C=
n.294C=
c.7017C= (p.Gly2339=)
c.6822C= (p.Gly2274=)
c.6990C= (p.Gly2330=)
16g.89279423G>TCA497372661ANKRD11c.7119C>A (p.Gly2373=)
c.*6922C>A (n.*6922C>A)
c.745-4232C>A (n.745-4232C>A)
c.152-4232C>A
n.294C>A
c.7017C>A (p.Gly2339=)
c.6822C>A (p.Gly2274=)
c.6990C>A (p.Gly2330=)
 gnomAD v4
16g.89279424C>ACA397149291ANKRD11c.7118G>T (p.Gly2373Val)
c.*6921G>T (n.*6921G>T)
c.745-4233G>T (n.745-4233G>T)
c.152-4233G>T
n.293G>T
c.7016G>T (p.Gly2339Val)
c.6821G>T (p.Gly2274Val)
c.6989G>T (p.Gly2330Val)
 dbSNP gnomAD v2 gnomAD v4
16g.89279424C=CA2241586707ANKRD11c.7118G= (p.Gly2373=)
c.*6921G= (n.*6921G=)
c.745-4233G= (n.745-4233G=)
c.152-4233G=
n.293G=
c.7016G= (p.Gly2339=)
c.6821G= (p.Gly2274=)
c.6989G= (p.Gly2330=)
16g.89279424C>GCA397149290ANKRD11c.7118G>C (p.Gly2373Ala)
c.*6921G>C (n.*6921G>C)
c.745-4233G>C (n.745-4233G>C)
c.152-4233G>C
n.293G>C
c.7016G>C (p.Gly2339Ala)
c.6821G>C (p.Gly2274Ala)
c.6989G>C (p.Gly2330Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.89279424C>TCA397149289ANKRD11c.7118G>A (p.Gly2373Asp)
c.*6921G>A (n.*6921G>A)
c.745-4233G>A (n.745-4233G>A)
c.152-4233G>A
n.293G>A
c.7016G>A (p.Gly2339Asp)
c.6821G>A (p.Gly2274Asp)
c.6989G>A (p.Gly2330Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279425C>ACA397149292ANKRD11c.7117G>T (p.Gly2373Cys)
c.*6920G>T (n.*6920G>T)
c.745-4234G>T (n.745-4234G>T)
c.152-4234G>T
n.292G>T
c.7015G>T (p.Gly2339Cys)
c.6820G>T (p.Gly2274Cys)
c.6988G>T (p.Gly2330Cys)
 gnomAD v4
16g.89279425C=CA2241586708ANKRD11c.7117G= (p.Gly2373=)
c.*6920G= (n.*6920G=)
c.745-4234G= (n.745-4234G=)
c.152-4234G=
n.292G=
c.7015G= (p.Gly2339=)
c.6820G= (p.Gly2274=)
c.6988G= (p.Gly2330=)
16g.89279425C>GCA397149293ANKRD11c.7117G>C (p.Gly2373Arg)
c.*6920G>C (n.*6920G>C)
c.745-4234G>C (n.745-4234G>C)
c.152-4234G>C
n.292G>C
c.7015G>C (p.Gly2339Arg)
c.6820G>C (p.Gly2274Arg)
c.6988G>C (p.Gly2330Arg)
16g.89279425C>TCA397149294ANKRD11c.7117G>A (p.Gly2373Ser)
c.*6920G>A (n.*6920G>A)
c.745-4234G>A (n.745-4234G>A)
c.152-4234G>A
n.292G>A
c.7015G>A (p.Gly2339Ser)
c.6820G>A (p.Gly2274Ser)
c.6988G>A (p.Gly2330Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.89279426G>ACA497372668ANKRD11c.7116C>T (p.Arg2372=)
c.*6919C>T (n.*6919C>T)
c.745-4235C>T (n.745-4235C>T)
c.152-4235C>T
n.291C>T
c.7014C>T (p.Arg2338=)
c.6819C>T (p.Arg2273=)
c.6987C>T (p.Arg2329=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279426G>CCA286509498ANKRD11c.7116C>G (p.Arg2372=)
c.*6919C>G (n.*6919C>G)
c.745-4235C>G (n.745-4235C>G)
c.152-4235C>G
n.291C>G
c.7014C>G (p.Arg2338=)
c.6819C>G (p.Arg2273=)
c.6987C>G (p.Arg2329=)
 dbSNP
16g.89279426G=CA2241586709ANKRD11c.7116C= (p.Arg2372=)
c.*6919C= (n.*6919C=)
c.745-4235C= (n.745-4235C=)
c.152-4235C=
n.291C=
c.7014C= (p.Arg2338=)
c.6819C= (p.Arg2273=)
c.6987C= (p.Arg2329=)
16g.89279426G>TCA497372669ANKRD11c.7116C>A (p.Arg2372=)
c.*6919C>A (n.*6919C>A)
c.745-4235C>A (n.745-4235C>A)
c.152-4235C>A
n.291C>A
c.7014C>A (p.Arg2338=)
c.6819C>A (p.Arg2273=)
c.6987C>A (p.Arg2329=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279427C>ACA397149295ANKRD11c.7115G>T (p.Arg2372Leu)
c.*6918G>T (n.*6918G>T)
c.745-4236G>T (n.745-4236G>T)
c.152-4236G>T
n.290G>T
c.7013G>T (p.Arg2338Leu)
c.6818G>T (p.Arg2273Leu)
c.6986G>T (p.Arg2329Leu)
16g.89279427C=CA2241586710ANKRD11c.7115G= (p.Arg2372=)
c.*6918G= (n.*6918G=)
c.745-4236G= (n.745-4236G=)
c.152-4236G=
n.290G=
c.7013G= (p.Arg2338=)
c.6818G= (p.Arg2273=)
c.6986G= (p.Arg2329=)
16g.89279427C>GCA286509503ANKRD11c.7115G>C (p.Arg2372Pro)
c.*6918G>C (n.*6918G>C)
c.745-4236G>C (n.745-4236G>C)
c.152-4236G>C
n.290G>C
c.7013G>C (p.Arg2338Pro)
c.6818G>C (p.Arg2273Pro)
c.6986G>C (p.Arg2329Pro)
 dbSNP
16g.89279427C>TCA8241294ANKRD11c.7115G>A (p.Arg2372His)
c.*6918G>A (n.*6918G>A)
c.745-4236G>A (n.745-4236G>A)
c.152-4236G>A
n.290G>A
c.7013G>A (p.Arg2338His)
c.6818G>A (p.Arg2273His)
c.6986G>A (p.Arg2329His)
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.89279428G>ACA397149296ANKRD11c.7114C>T (p.Arg2372Cys)
c.*6917C>T (n.*6917C>T)
c.745-4237C>T (n.745-4237C>T)
c.152-4237C>T
n.289C>T
c.7012C>T (p.Arg2338Cys)
c.6817C>T (p.Arg2273Cys)
c.6985C>T (p.Arg2329Cys)
 ClinVar dbSNP gnomAD v4
16g.89279428G>CCA397149297ANKRD11c.7114C>G (p.Arg2372Gly)
c.*6917C>G (n.*6917C>G)
c.745-4237C>G (n.745-4237C>G)
c.152-4237C>G
n.289C>G
c.7012C>G (p.Arg2338Gly)
c.6817C>G (p.Arg2273Gly)
c.6985C>G (p.Arg2329Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279428G=CA2241586711ANKRD11c.7114C= (p.Arg2372=)
c.*6917C= (n.*6917C=)
c.745-4237C= (n.745-4237C=)
c.152-4237C=
n.289C=
c.7012C= (p.Arg2338=)
c.6817C= (p.Arg2273=)
c.6985C= (p.Arg2329=)
16g.89279428G>TCA397149298ANKRD11c.7114C>A (p.Arg2372Ser)
c.*6917C>A (n.*6917C>A)
c.745-4237C>A (n.745-4237C>A)
c.152-4237C>A
n.289C>A
c.7012C>A (p.Arg2338Ser)
c.6817C>A (p.Arg2273Ser)
c.6985C>A (p.Arg2329Ser)
16g.89279430dupCA915949407ANKRD11c.7114dup (p.Arg2372ProfsTer?)
c.*6917dup (n.*6917dup)
c.745-4237dup (n.745-4237dup)
c.152-4237dup
n.289dup
c.7012dup (p.Arg2338ProfsTer?)
c.6817dup (p.Arg2273ProfsTer?)
c.6985dup (p.Arg2329ProfsTer?)
 ClinVar dbSNP
16g.89279429G>ACA497372675ANKRD11c.7113C>T (p.Ala2371=)
c.*6916C>T (n.*6916C>T)
c.745-4238C>T (n.745-4238C>T)
c.152-4238C>T
n.288C>T
c.7011C>T (p.Ala2337=)
c.6816C>T (p.Ala2272=)
c.6984C>T (p.Ala2328=)
 dbSNP gnomAD v4
16g.89279429G>CCA497372677ANKRD11c.7113C>G (p.Ala2371=)
c.*6916C>G (n.*6916C>G)
c.745-4238C>G (n.745-4238C>G)
c.152-4238C>G
n.288C>G
c.7011C>G (p.Ala2337=)
c.6816C>G (p.Ala2272=)
c.6984C>G (p.Ala2328=)
16g.89279429G=CA2241586712ANKRD11c.7113C= (p.Ala2371=)
c.*6916C= (n.*6916C=)
c.745-4238C= (n.745-4238C=)
c.152-4238C=
n.288C=
c.7011C= (p.Ala2337=)
c.6816C= (p.Ala2272=)
c.6984C= (p.Ala2328=)
16g.89279429G>TCA497372676ANKRD11c.7113C>A (p.Ala2371=)
c.*6916C>A (n.*6916C>A)
c.745-4238C>A (n.745-4238C>A)
c.152-4238C>A
n.288C>A
c.7011C>A (p.Ala2337=)
c.6816C>A (p.Ala2272=)
c.6984C>A (p.Ala2328=)
16g.89279430G>ACA397149300ANKRD11c.7112C>T (p.Ala2371Val)
c.*6915C>T (n.*6915C>T)
c.745-4239C>T (n.745-4239C>T)
c.152-4239C>T
n.287C>T
c.7010C>T (p.Ala2337Val)
c.6815C>T (p.Ala2272Val)
c.6983C>T (p.Ala2328Val)
 dbSNP gnomAD v3 gnomAD v4
16g.89279430G>CCA397149301ANKRD11c.7112C>G (p.Ala2371Gly)
c.*6915C>G (n.*6915C>G)
c.745-4239C>G (n.745-4239C>G)
c.152-4239C>G
n.287C>G
c.7010C>G (p.Ala2337Gly)
c.6815C>G (p.Ala2272Gly)
c.6983C>G (p.Ala2328Gly)
 gnomAD v4
16g.89279430G=CA2241586713ANKRD11c.7112C= (p.Ala2371=)
c.*6915C= (n.*6915C=)
c.745-4239C= (n.745-4239C=)
c.152-4239C=
n.287C=
c.7010C= (p.Ala2337=)
c.6815C= (p.Ala2272=)
c.6983C= (p.Ala2328=)
16g.89279430G>TCA397149303ANKRD11c.7112C>A (p.Ala2371Asp)
c.*6915C>A (n.*6915C>A)
c.745-4239C>A (n.745-4239C>A)
c.152-4239C>A
n.287C>A
c.7010C>A (p.Ala2337Asp)
c.6815C>A (p.Ala2272Asp)
c.6983C>A (p.Ala2328Asp)
16g.89279431C>ACA8241295ANKRD11c.7111G>T (p.Ala2371Ser)
c.*6914G>T (n.*6914G>T)
c.745-4240G>T (n.745-4240G>T)
c.152-4240G>T
n.286G>T
c.7009G>T (p.Ala2337Ser)
c.6814G>T (p.Ala2272Ser)
c.6982G>T (p.Ala2328Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279431C=CA2241586714ANKRD11c.7111G= (p.Ala2371=)
c.*6914G= (n.*6914G=)
c.745-4240G= (n.745-4240G=)
c.152-4240G=
n.286G=
c.7009G= (p.Ala2337=)
c.6814G= (p.Ala2272=)
c.6982G= (p.Ala2328=)
16g.89279431C>GCA397149305ANKRD11c.7111G>C (p.Ala2371Pro)
c.*6914G>C (n.*6914G>C)
c.745-4240G>C (n.745-4240G>C)
c.152-4240G>C
n.286G>C
c.7009G>C (p.Ala2337Pro)
c.6814G>C (p.Ala2272Pro)
c.6982G>C (p.Ala2328Pro)
16g.89279431C>TCA397149304ANKRD11c.7111G>A (p.Ala2371Thr)
c.*6914G>A (n.*6914G>A)
c.745-4240G>A (n.745-4240G>A)
c.152-4240G>A
n.286G>A
c.7009G>A (p.Ala2337Thr)
c.6814G>A (p.Ala2272Thr)
c.6982G>A (p.Ala2328Thr)
 gnomAD v4
16g.89279432C>ACA397149306ANKRD11c.7110G>T (p.Lys2370Asn)
c.*6913G>T (n.*6913G>T)
c.745-4241G>T (n.745-4241G>T)
c.152-4241G>T
n.285G>T
c.7008G>T (p.Lys2336Asn)
c.6813G>T (p.Lys2271Asn)
c.6981G>T (p.Lys2327Asn)
16g.89279432C>GCA397149307ANKRD11c.7110G>C (p.Lys2370Asn)
c.*6913G>C (n.*6913G>C)
c.745-4241G>C (n.745-4241G>C)
c.152-4241G>C
n.285G>C
c.7008G>C (p.Lys2336Asn)
c.6813G>C (p.Lys2271Asn)
c.6981G>C (p.Lys2327Asn)
16g.89279432C>TCA497372683ANKRD11c.7110G>A (p.Lys2370=)
c.*6913G>A (n.*6913G>A)
c.745-4241G>A (n.745-4241G>A)
c.152-4241G>A
n.285G>A
c.7008G>A (p.Lys2336=)
c.6813G>A (p.Lys2271=)
c.6981G>A (p.Lys2327=)
16g.89279433T>ACA397149308ANKRD11c.7109A>T (p.Lys2370Met)
c.*6912A>T (n.*6912A>T)
c.745-4242A>T (n.745-4242A>T)
c.152-4242A>T
n.284A>T
c.7007A>T (p.Lys2336Met)
c.6812A>T (p.Lys2271Met)
c.6980A>T (p.Lys2327Met)
16g.89279433T>CCA397149309ANKRD11c.7109A>G (p.Lys2370Arg)
c.*6912A>G (n.*6912A>G)
c.745-4242A>G (n.745-4242A>G)
c.152-4242A>G
n.284A>G
c.7007A>G (p.Lys2336Arg)
c.6812A>G (p.Lys2271Arg)
c.6980A>G (p.Lys2327Arg)
 ClinVar
16g.89279433T>GCA397149310ANKRD11c.7109A>C (p.Lys2370Thr)
c.*6912A>C (n.*6912A>C)
c.745-4242A>C (n.745-4242A>C)
c.152-4242A>C
n.284A>C
c.7007A>C (p.Lys2336Thr)
c.6812A>C (p.Lys2271Thr)
c.6980A>C (p.Lys2327Thr)
 gnomAD v4
16g.89279434T>ACA397149311ANKRD11c.7108A>T (p.Lys2370Ter)
c.*6911A>T (n.*6911A>T)
c.745-4243A>T (n.745-4243A>T)
c.152-4243A>T
n.283A>T
c.7006A>T (p.Lys2336Ter)
c.6811A>T (p.Lys2271Ter)
c.6979A>T (p.Lys2327Ter)
16g.89279434T>CCA397149312ANKRD11c.7108A>G (p.Lys2370Glu)
c.*6911A>G (n.*6911A>G)
c.745-4243A>G (n.745-4243A>G)
c.152-4243A>G
n.283A>G
c.7006A>G (p.Lys2336Glu)
c.6811A>G (p.Lys2271Glu)
c.6979A>G (p.Lys2327Glu)
16g.89279434T>GCA397149313ANKRD11c.7108A>C (p.Lys2370Gln)
c.*6911A>C (n.*6911A>C)
c.745-4243A>C (n.745-4243A>C)
c.152-4243A>C
n.283A>C
c.7006A>C (p.Lys2336Gln)
c.6811A>C (p.Lys2271Gln)
c.6979A>C (p.Lys2327Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.89279434T=CA2241586715ANKRD11c.7108A= (p.Lys2370=)
c.*6911A= (n.*6911A=)
c.745-4243A= (n.745-4243A=)
c.152-4243A=
n.283A=
c.7006A= (p.Lys2336=)
c.6811A= (p.Lys2271=)
c.6979A= (p.Lys2327=)
16g.89279435G>ACA497372688ANKRD11c.7107C>T (p.Ala2369=)
c.*6910C>T (n.*6910C>T)
c.745-4244C>T (n.745-4244C>T)
c.152-4244C>T
n.282C>T
c.7005C>T (p.Ala2335=)
c.6810C>T (p.Ala2270=)
c.6978C>T (p.Ala2326=)
16g.89279435G>CCA497372690ANKRD11c.7107C>G (p.Ala2369=)
c.*6910C>G (n.*6910C>G)
c.745-4244C>G (n.745-4244C>G)
c.152-4244C>G
n.282C>G
c.7005C>G (p.Ala2335=)
c.6810C>G (p.Ala2270=)
c.6978C>G (p.Ala2326=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279435G=CA2241586717ANKRD11c.7107C= (p.Ala2369=)
c.*6910C= (n.*6910C=)
c.745-4244C= (n.745-4244C=)
c.152-4244C=
n.282C=
c.7005C= (p.Ala2335=)
c.6810C= (p.Ala2270=)
c.6978C= (p.Ala2326=)
16g.89279435G>TCA497372689ANKRD11c.7107C>A (p.Ala2369=)
c.*6910C>A (n.*6910C>A)
c.745-4244C>A (n.745-4244C>A)
c.152-4244C>A
n.282C>A
c.7005C>A (p.Ala2335=)
c.6810C>A (p.Ala2270=)
c.6978C>A (p.Ala2326=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279435_89279439delinsGGCCCCA2241586716ANKRD11c.7103_7107delinsGGGCC (p.Arg2368=)
c.*6906_*6910delinsGGGCC (n.*6906_*6910delinsGGGCC)
c.745-4248_745-4244delinsGGGCC (n.745-4248_745-4244delinsGGGCC)
c.152-4248_152-4244delinsGGGCC
n.278_282delinsGGGCC
c.7001_7005delinsGGGCC (p.Arg2334=)
c.6806_6810delinsGGGCC (p.Arg2269=)
c.6974_6978delinsGGGCC (p.Arg2325=)
16g.89279436G>ACA397149314ANKRD11c.7106C>T (p.Ala2369Val)
c.*6909C>T (n.*6909C>T)
c.745-4245C>T (n.745-4245C>T)
c.152-4245C>T
n.281C>T
c.7004C>T (p.Ala2335Val)
c.6809C>T (p.Ala2270Val)
c.6977C>T (p.Ala2326Val)
 dbSNP gnomAD v4 COSMIC
16g.89279436G>CCA397149316ANKRD11c.7106C>G (p.Ala2369Gly)
c.*6909C>G (n.*6909C>G)
c.745-4245C>G (n.745-4245C>G)
c.152-4245C>G
n.281C>G
c.7004C>G (p.Ala2335Gly)
c.6809C>G (p.Ala2270Gly)
c.6977C>G (p.Ala2326Gly)
16g.89279436G=CA2241586718ANKRD11c.7106C= (p.Ala2369=)
c.*6909C= (n.*6909C=)
c.745-4245C= (n.745-4245C=)
c.152-4245C=
n.281C=
c.7004C= (p.Ala2335=)
c.6809C= (p.Ala2270=)
c.6977C= (p.Ala2326=)
16g.89279436G>TCA397149317ANKRD11c.7106C>A (p.Ala2369Asp)
c.*6909C>A (n.*6909C>A)
c.745-4245C>A (n.745-4245C>A)
c.152-4245C>A
n.281C>A
c.7004C>A (p.Ala2335Asp)
c.6809C>A (p.Ala2270Asp)
c.6977C>A (p.Ala2326Asp)
16g.89279436_89279439delCA1139664888ANKRD11c.7103_7106del (p.Arg2368ThrfsTer?)
c.*6906_*6909del (n.*6906_*6909del)
c.745-4248_745-4245del (n.745-4248_745-4245del)
c.152-4248_152-4245del
n.278_281del
c.7001_7004del (p.Arg2334ThrfsTer?)
c.6806_6809del (p.Arg2269ThrfsTer?)
c.6974_6977del (p.Arg2325ThrfsTer?)
 ClinVar dbSNP
16g.89279437C>ACA286509510ANKRD11c.7105G>T (p.Ala2369Ser)
c.*6908G>T (n.*6908G>T)
c.745-4246G>T (n.745-4246G>T)
c.152-4246G>T
n.280G>T
c.7003G>T (p.Ala2335Ser)
c.6808G>T (p.Ala2270Ser)
c.6976G>T (p.Ala2326Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279437C=CA2241586719ANKRD11c.7105G= (p.Ala2369=)
c.*6908G= (n.*6908G=)
c.745-4246G= (n.745-4246G=)
c.152-4246G=
n.280G=
c.7003G= (p.Ala2335=)
c.6808G= (p.Ala2270=)
c.6976G= (p.Ala2326=)
16g.89279437C>GCA397149318ANKRD11c.7105G>C (p.Ala2369Pro)
c.*6908G>C (n.*6908G>C)
c.745-4246G>C (n.745-4246G>C)
c.152-4246G>C
n.280G>C
c.7003G>C (p.Ala2335Pro)
c.6808G>C (p.Ala2270Pro)
c.6976G>C (p.Ala2326Pro)
16g.89279437C>TCA397149319ANKRD11c.7105G>A (p.Ala2369Thr)
c.*6908G>A (n.*6908G>A)
c.745-4246G>A (n.745-4246G>A)
c.152-4246G>A
n.280G>A
c.7003G>A (p.Ala2335Thr)
c.6808G>A (p.Ala2270Thr)
c.6976G>A (p.Ala2326Thr)
16g.89279438C>ACA397149320ANKRD11c.7104G>T (p.Arg2368Ser)
c.*6907G>T (n.*6907G>T)
c.745-4247G>T (n.745-4247G>T)
c.152-4247G>T
n.279G>T
c.7002G>T (p.Arg2334Ser)
c.6807G>T (p.Arg2269Ser)
c.6975G>T (p.Arg2325Ser)
16g.89279438C=CA2241586720ANKRD11c.7104G= (p.Arg2368=)
c.*6907G= (n.*6907G=)
c.745-4247G= (n.745-4247G=)
c.152-4247G=
n.279G=
c.7002G= (p.Arg2334=)
c.6807G= (p.Arg2269=)
c.6975G= (p.Arg2325=)
16g.89279438C>GCA397149321ANKRD11c.7104G>C (p.Arg2368Ser)
c.*6907G>C (n.*6907G>C)
c.745-4247G>C (n.745-4247G>C)
c.152-4247G>C
n.279G>C
c.7002G>C (p.Arg2334Ser)
c.6807G>C (p.Arg2269Ser)
c.6975G>C (p.Arg2325Ser)
16g.89279438C>TCA497372695ANKRD11c.7104G>A (p.Arg2368=)
c.*6907G>A (n.*6907G>A)
c.745-4247G>A (n.745-4247G>A)
c.152-4247G>A
n.279G>A
c.7002G>A (p.Arg2334=)
c.6807G>A (p.Arg2269=)
c.6975G>A (p.Arg2325=)
 dbSNP
16g.89279439C>ACA397149322ANKRD11c.7103G>T (p.Arg2368Met)
c.*6906G>T (n.*6906G>T)
c.745-4248G>T (n.745-4248G>T)
c.152-4248G>T
n.278G>T
c.7001G>T (p.Arg2334Met)
c.6806G>T (p.Arg2269Met)
c.6974G>T (p.Arg2325Met)
16g.89279439C=CA2241586721ANKRD11c.7103G= (p.Arg2368=)
c.*6906G= (n.*6906G=)
c.745-4248G= (n.745-4248G=)
c.152-4248G=
n.278G=
c.7001G= (p.Arg2334=)
c.6806G= (p.Arg2269=)
c.6974G= (p.Arg2325=)
16g.89279439C>GCA397149323ANKRD11c.7103G>C (p.Arg2368Thr)
c.*6906G>C (n.*6906G>C)
c.745-4248G>C (n.745-4248G>C)
c.152-4248G>C
n.278G>C
c.7001G>C (p.Arg2334Thr)
c.6806G>C (p.Arg2269Thr)
c.6974G>C (p.Arg2325Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.89279439C>TCA286509514ANKRD11c.7103G>A (p.Arg2368Lys)
c.*6906G>A (n.*6906G>A)
c.745-4248G>A (n.745-4248G>A)
c.152-4248G>A
n.278G>A
c.7001G>A (p.Arg2334Lys)
c.6806G>A (p.Arg2269Lys)
c.6974G>A (p.Arg2325Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279440T>ACA397149324ANKRD11c.7102A>T (p.Arg2368Trp)
c.*6905A>T (n.*6905A>T)
c.745-4249A>T (n.745-4249A>T)
c.152-4249A>T
n.277A>T
c.7000A>T (p.Arg2334Trp)
c.6805A>T (p.Arg2269Trp)
c.6973A>T (p.Arg2325Trp)
16g.89279440T>CCA397149325ANKRD11c.7102A>G (p.Arg2368Gly)
c.*6905A>G (n.*6905A>G)
c.745-4249A>G (n.745-4249A>G)
c.152-4249A>G
n.277A>G
c.7000A>G (p.Arg2334Gly)
c.6805A>G (p.Arg2269Gly)
c.6973A>G (p.Arg2325Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.89279440T>GCA497372702ANKRD11c.7102A>C (p.Arg2368=)
c.*6905A>C (n.*6905A>C)
c.745-4249A>C (n.745-4249A>C)
c.152-4249A>C
n.277A>C
c.7000A>C (p.Arg2334=)
c.6805A>C (p.Arg2269=)
c.6973A>C (p.Arg2325=)
 gnomAD v3 gnomAD v4
16g.89279440T=CA2241586722ANKRD11c.7102A= (p.Arg2368=)
c.*6905A= (n.*6905A=)
c.745-4249A= (n.745-4249A=)
c.152-4249A=
n.277A=
c.7000A= (p.Arg2334=)
c.6805A= (p.Arg2269=)
c.6973A= (p.Arg2325=)
16g.89279441G>ACA497372703ANKRD11c.7101C>T (p.Thr2367=)
c.*6904C>T (n.*6904C>T)
c.745-4250C>T (n.745-4250C>T)
c.152-4250C>T
n.276C>T
c.6999C>T (p.Thr2333=)
c.6804C>T (p.Thr2268=)
c.6972C>T (p.Thr2324=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279441G>CCA497372704ANKRD11c.7101C>G (p.Thr2367=)
c.*6904C>G (n.*6904C>G)
c.745-4250C>G (n.745-4250C>G)
c.152-4250C>G
n.276C>G
c.6999C>G (p.Thr2333=)
c.6804C>G (p.Thr2268=)
c.6972C>G (p.Thr2324=)
16g.89279441G=CA2241586723ANKRD11c.7101C= (p.Thr2367=)
c.*6904C= (n.*6904C=)
c.745-4250C= (n.745-4250C=)
c.152-4250C=
n.276C=
c.6999C= (p.Thr2333=)
c.6804C= (p.Thr2268=)
c.6972C= (p.Thr2324=)
16g.89279441G>TCA497372705ANKRD11c.7101C>A (p.Thr2367=)
c.*6904C>A (n.*6904C>A)
c.745-4250C>A (n.745-4250C>A)
c.152-4250C>A
n.276C>A
c.6999C>A (p.Thr2333=)
c.6804C>A (p.Thr2268=)
c.6972C>A (p.Thr2324=)
16g.89279442G>ACA397149326ANKRD11c.7100C>T (p.Thr2367Ile)
c.*6903C>T (n.*6903C>T)
c.745-4251C>T (n.745-4251C>T)
c.152-4251C>T
n.275C>T
c.6998C>T (p.Thr2333Ile)
c.6803C>T (p.Thr2268Ile)
c.6971C>T (p.Thr2324Ile)
 dbSNP
16g.89279442G>CCA397149327ANKRD11c.7100C>G (p.Thr2367Ser)
c.*6903C>G (n.*6903C>G)
c.745-4251C>G (n.745-4251C>G)
c.152-4251C>G
n.275C>G
c.6998C>G (p.Thr2333Ser)
c.6803C>G (p.Thr2268Ser)
c.6971C>G (p.Thr2324Ser)
 gnomAD v4
16g.89279442G=CA2241586724ANKRD11c.7100C= (p.Thr2367=)
c.*6903C= (n.*6903C=)
c.745-4251C= (n.745-4251C=)
c.152-4251C=
n.275C=
c.6998C= (p.Thr2333=)
c.6803C= (p.Thr2268=)
c.6971C= (p.Thr2324=)
16g.89279442G>TCA397149328ANKRD11c.7100C>A (p.Thr2367Asn)
c.*6903C>A (n.*6903C>A)
c.745-4251C>A (n.745-4251C>A)
c.152-4251C>A
n.275C>A
c.6998C>A (p.Thr2333Asn)
c.6803C>A (p.Thr2268Asn)
c.6971C>A (p.Thr2324Asn)
16g.89279443T>ACA397149329ANKRD11c.7099A>T (p.Thr2367Ser)
c.*6902A>T (n.*6902A>T)
c.745-4252A>T (n.745-4252A>T)
c.152-4252A>T
n.274A>T
c.6997A>T (p.Thr2333Ser)
c.6802A>T (p.Thr2268Ser)
c.6970A>T (p.Thr2324Ser)
 gnomAD v4
16g.89279443T>CCA397149330ANKRD11c.7099A>G (p.Thr2367Ala)
c.*6902A>G (n.*6902A>G)
c.745-4252A>G (n.745-4252A>G)
c.152-4252A>G
n.274A>G
c.6997A>G (p.Thr2333Ala)
c.6802A>G (p.Thr2268Ala)
c.6970A>G (p.Thr2324Ala)
 gnomAD v4
16g.89279443T>GCA397149331ANKRD11c.7099A>C (p.Thr2367Pro)
c.*6902A>C (n.*6902A>C)
c.745-4252A>C (n.745-4252A>C)
c.152-4252A>C
n.274A>C
c.6997A>C (p.Thr2333Pro)
c.6802A>C (p.Thr2268Pro)
c.6970A>C (p.Thr2324Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279443T=CA2241586725ANKRD11c.7099A= (p.Thr2367=)
c.*6902A= (n.*6902A=)
c.745-4252A= (n.745-4252A=)
c.152-4252A=
n.274A=
c.6997A= (p.Thr2333=)
c.6802A= (p.Thr2268=)
c.6970A= (p.Thr2324=)
16g.89279444G>ACA497372710ANKRD11c.7098C>T (p.Val2366=)
c.*6901C>T (n.*6901C>T)
c.745-4253C>T (n.745-4253C>T)
c.152-4253C>T
n.273C>T
c.6996C>T (p.Val2332=)
c.6801C>T (p.Val2267=)
c.6969C>T (p.Val2323=)
 gnomAD v4
16g.89279444G>CCA286509517ANKRD11c.7098C>G (p.Val2366=)
c.*6901C>G (n.*6901C>G)
c.745-4253C>G (n.745-4253C>G)
c.152-4253C>G
n.273C>G
c.6996C>G (p.Val2332=)
c.6801C>G (p.Val2267=)
c.6969C>G (p.Val2323=)
 ClinVar dbSNP gnomAD v4
16g.89279444G=CA2241586726ANKRD11c.7098C= (p.Val2366=)
c.*6901C= (n.*6901C=)
c.745-4253C= (n.745-4253C=)
c.152-4253C=
n.273C=
c.6996C= (p.Val2332=)
c.6801C= (p.Val2267=)
c.6969C= (p.Val2323=)
16g.89279444G>TCA497372712ANKRD11c.7098C>A (p.Val2366=)
c.*6901C>A (n.*6901C>A)
c.745-4253C>A (n.745-4253C>A)
c.152-4253C>A
n.273C>A
c.6996C>A (p.Val2332=)
c.6801C>A (p.Val2267=)
c.6969C>A (p.Val2323=)
 gnomAD v4
16g.89279445_89279454delCA2695223895ANKRD11c.7089_7098del (p.Ala2364ProfsTer?)
c.*6892_*6901del (n.*6892_*6901del)
c.745-4262_745-4253del (n.745-4262_745-4253del)
c.152-4262_152-4253del
n.264_273del
c.6987_6996del (p.Ala2330ProfsTer?)
c.6792_6801del (p.Ala2265ProfsTer?)
c.6960_6969del (p.Ala2321ProfsTer?)
16g.89279445A=CA2241586727ANKRD11c.7097T= (p.Val2366=)
c.*6900T= (n.*6900T=)
c.745-4254T= (n.745-4254T=)
c.152-4254T=
n.272T=
c.6995T= (p.Val2332=)
c.6800T= (p.Val2267=)
c.6968T= (p.Val2323=)
16g.89279445A>CCA397149334ANKRD11c.7097T>G (p.Val2366Gly)
c.*6900T>G (n.*6900T>G)
c.745-4254T>G (n.745-4254T>G)
c.152-4254T>G
n.272T>G
c.6995T>G (p.Val2332Gly)
c.6800T>G (p.Val2267Gly)
c.6968T>G (p.Val2323Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.89279445A>GCA397149333ANKRD11c.7097T>C (p.Val2366Ala)
c.*6900T>C (n.*6900T>C)
c.745-4254T>C (n.745-4254T>C)
c.152-4254T>C
n.272T>C
c.6995T>C (p.Val2332Ala)
c.6800T>C (p.Val2267Ala)
c.6968T>C (p.Val2323Ala)
16g.89279445A>TCA397149332ANKRD11c.7097T>A (p.Val2366Asp)
c.*6900T>A (n.*6900T>A)
c.745-4254T>A (n.745-4254T>A)
c.152-4254T>A
n.272T>A
c.6995T>A (p.Val2332Asp)
c.6800T>A (p.Val2267Asp)
c.6968T>A (p.Val2323Asp)
16g.89279446C>ACA397149335ANKRD11c.7096G>T (p.Val2366Phe)
c.*6899G>T (n.*6899G>T)
c.745-4255G>T (n.745-4255G>T)
c.152-4255G>T
n.271G>T
c.6994G>T (p.Val2332Phe)
c.6799G>T (p.Val2267Phe)
c.6967G>T (p.Val2323Phe)
16g.89279446C>GCA397149336ANKRD11c.7096G>C (p.Val2366Leu)
c.*6899G>C (n.*6899G>C)
c.745-4255G>C (n.745-4255G>C)
c.152-4255G>C
n.271G>C
c.6994G>C (p.Val2332Leu)
c.6799G>C (p.Val2267Leu)
c.6967G>C (p.Val2323Leu)
 gnomAD v4
16g.89279446C>TCA397149337ANKRD11c.7096G>A (p.Val2366Ile)
c.*6899G>A (n.*6899G>A)
c.745-4255G>A (n.745-4255G>A)
c.152-4255G>A
n.271G>A
c.6994G>A (p.Val2332Ile)
c.6799G>A (p.Val2267Ile)
c.6967G>A (p.Val2323Ile)
16g.89279447C>ACA497372717ANKRD11c.7095G>T (p.Pro2365=)
c.*6898G>T (n.*6898G>T)
c.745-4256G>T (n.745-4256G>T)
c.152-4256G>T
n.270G>T
c.6993G>T (p.Pro2331=)
c.6798G>T (p.Pro2266=)
c.6966G>T (p.Pro2322=)
16g.89279447C=CA2241586728ANKRD11c.7095G= (p.Pro2365=)
c.*6898G= (n.*6898G=)
c.745-4256G= (n.745-4256G=)
c.152-4256G=
n.270G=
c.6993G= (p.Pro2331=)
c.6798G= (p.Pro2266=)
c.6966G= (p.Pro2322=)
16g.89279447C>GCA497372718ANKRD11c.7095G>C (p.Pro2365=)
c.*6898G>C (n.*6898G>C)
c.745-4256G>C (n.745-4256G>C)
c.152-4256G>C
n.270G>C
c.6993G>C (p.Pro2331=)
c.6798G>C (p.Pro2266=)
c.6966G>C (p.Pro2322=)
 ClinVar gnomAD v4
16g.89279447C>TCA497372719ANKRD11c.7095G>A (p.Pro2365=)
c.*6898G>A (n.*6898G>A)
c.745-4256G>A (n.745-4256G>A)
c.152-4256G>A
n.270G>A
c.6993G>A (p.Pro2331=)
c.6798G>A (p.Pro2266=)
c.6966G>A (p.Pro2322=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89279447_89279448insACA2634941093ANKRD11c.7094_7095insT (p.Val2366GlyfsTer?)
c.*6897_*6898insT (n.*6897_*6898insT)
c.745-4257_745-4256insT (n.745-4257_745-4256insT)
c.152-4257_152-4256insT
n.269_270insT
c.6992_6993insT (p.Val2332GlyfsTer?)
c.6797_6798insT (p.Val2267GlyfsTer?)
c.6965_6966insT (p.Val2323GlyfsTer?)
 gnomAD v4
16g.89279448G>ACA397149338ANKRD11c.7094C>T (p.Pro2365Leu)
c.*6897C>T (n.*6897C>T)
c.745-4257C>T (n.745-4257C>T)
c.152-4257C>T
n.269C>T
c.6992C>T (p.Pro2331Leu)
c.6797C>T (p.Pro2266Leu)
c.6965C>T (p.Pro2322Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89279448G>CCA397149339ANKRD11c.7094C>G (p.Pro2365Arg)
c.*6897C>G (n.*6897C>G)
c.745-4257C>G (n.745-4257C>G)
c.152-4257C>G
n.269C>G
c.6992C>G (p.Pro2331Arg)
c.6797C>G (p.Pro2266Arg)
c.6965C>G (p.Pro2322Arg)
 gnomAD v4
16g.89279448G=CA2241586729ANKRD11c.7094C= (p.Pro2365=)
c.*6897C= (n.*6897C=)
c.745-4257C= (n.745-4257C=)
c.152-4257C=
n.269C=
c.6992C= (p.Pro2331=)
c.6797C= (p.Pro2266=)
c.6965C= (p.Pro2322=)
16g.89279448G>TCA397149340ANKRD11c.7094C>A (p.Pro2365Gln)
c.*6897C>A (n.*6897C>A)
c.745-4257C>A (n.745-4257C>A)
c.152-4257C>A
n.269C>A
c.6992C>A (p.Pro2331Gln)
c.6797C>A (p.Pro2266Gln)
c.6965C>A (p.Pro2322Gln)
 gnomAD v4
16g.89279449G>ACA397149343ANKRD11c.7093C>T (p.Pro2365Ser)
c.*6896C>T (n.*6896C>T)
c.745-4258C>T (n.745-4258C>T)
c.152-4258C>T
n.268C>T
c.6991C>T (p.Pro2331Ser)
c.6796C>T (p.Pro2266Ser)
c.6964C>T (p.Pro2322Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.89279449G>CCA397149342ANKRD11c.7093C>G (p.Pro2365Ala)
c.*6896C>G (n.*6896C>G)
c.745-4258C>G (n.745-4258C>G)
c.152-4258C>G
n.268C>G
c.6991C>G (p.Pro2331Ala)
c.6796C>G (p.Pro2266Ala)
c.6964C>G (p.Pro2322Ala)
16g.89279449G=CA2241586730ANKRD11c.7093C= (p.Pro2365=)
c.*6896C= (n.*6896C=)
c.745-4258C= (n.745-4258C=)
c.152-4258C=
n.268C=
c.6991C= (p.Pro2331=)
c.6796C= (p.Pro2266=)
c.6964C= (p.Pro2322=)
16g.89279449G>TCA397149341ANKRD11c.7093C>A (p.Pro2365Thr)
c.*6896C>A (n.*6896C>A)
c.745-4258C>A (n.745-4258C>A)
c.152-4258C>A
n.268C>A
c.6991C>A (p.Pro2331Thr)
c.6796C>A (p.Pro2266Thr)
c.6964C>A (p.Pro2322Thr)
 gnomAD v4
16g.89279450G>ACA497372724ANKRD11c.7092C>T (p.Ala2364=)
c.*6895C>T (n.*6895C>T)
c.745-4259C>T (n.745-4259C>T)
c.152-4259C>T
n.267C>T
c.6990C>T (p.Ala2330=)
c.6795C>T (p.Ala2265=)
c.6963C>T (p.Ala2321=)
 gnomAD v4
16g.89279450G>CCA497372728ANKRD11c.7092C>G (p.Ala2364=)
c.*6895C>G (n.*6895C>G)
c.745-4259C>G (n.745-4259C>G)
c.152-4259C>G
n.267C>G
c.6990C>G (p.Ala2330=)
c.6795C>G (p.Ala2265=)
c.6963C>G (p.Ala2321=)
 gnomAD v3 gnomAD v4
16g.89279450G>TCA497372726ANKRD11c.7092C>A (p.Ala2364=)
c.*6895C>A (n.*6895C>A)
c.745-4259C>A (n.745-4259C>A)
c.152-4259C>A
n.267C>A
c.6990C>A (p.Ala2330=)
c.6795C>A (p.Ala2265=)
c.6963C>A (p.Ala2321=)
16g.89279451G>ACA397149345ANKRD11c.7091C>T (p.Ala2364Val)
c.*6894C>T (n.*6894C>T)
c.745-4260C>T (n.745-4260C>T)
c.152-4260C>T
n.266C>T
c.6989C>T (p.Ala2330Val)
c.6794C>T (p.Ala2265Val)
c.6962C>T (p.Ala2321Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279451G>CCA397149347ANKRD11c.7091C>G (p.Ala2364Gly)
c.*6894C>G (n.*6894C>G)
c.745-4260C>G (n.745-4260C>G)
c.152-4260C>G
n.266C>G
c.6989C>G (p.Ala2330Gly)
c.6794C>G (p.Ala2265Gly)
c.6962C>G (p.Ala2321Gly)
 ClinVar gnomAD v4
16g.89279451G=CA2241586731ANKRD11c.7091C= (p.Ala2364=)
c.*6894C= (n.*6894C=)
c.745-4260C= (n.745-4260C=)
c.152-4260C=
n.266C=
c.6989C= (p.Ala2330=)
c.6794C= (p.Ala2265=)
c.6962C= (p.Ala2321=)
16g.89279451G>TCA397149348ANKRD11c.7091C>A (p.Ala2364Asp)
c.*6894C>A (n.*6894C>A)
c.745-4260C>A (n.745-4260C>A)
c.152-4260C>A
n.266C>A
c.6989C>A (p.Ala2330Asp)
c.6794C>A (p.Ala2265Asp)
c.6962C>A (p.Ala2321Asp)
 gnomAD v4
16g.89279452C>ACA286509521ANKRD11c.7090G>T (p.Ala2364Ser)
c.*6893G>T (n.*6893G>T)
c.745-4261G>T (n.745-4261G>T)
c.152-4261G>T
n.265G>T
c.6988G>T (p.Ala2330Ser)
c.6793G>T (p.Ala2265Ser)
c.6961G>T (p.Ala2321Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279452C=CA2241586732ANKRD11c.7090G= (p.Ala2364=)
c.*6893G= (n.*6893G=)
c.745-4261G= (n.745-4261G=)
c.152-4261G=
n.265G=
c.6988G= (p.Ala2330=)
c.6793G= (p.Ala2265=)
c.6961G= (p.Ala2321=)
16g.89279452C>GCA397149349ANKRD11c.7090G>C (p.Ala2364Pro)
c.*6893G>C (n.*6893G>C)
c.745-4261G>C (n.745-4261G>C)
c.152-4261G>C
n.265G>C
c.6988G>C (p.Ala2330Pro)
c.6793G>C (p.Ala2265Pro)
c.6961G>C (p.Ala2321Pro)
 gnomAD v4
16g.89279452C>TCA397149350ANKRD11c.7090G>A (p.Ala2364Thr)
c.*6893G>A (n.*6893G>A)
c.745-4261G>A (n.745-4261G>A)
c.152-4261G>A
n.265G>A
c.6988G>A (p.Ala2330Thr)
c.6793G>A (p.Ala2265Thr)
c.6961G>A (p.Ala2321Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279452_89279453insCACA2634941113ANKRD11c.7089_7090insTG (p.Ala2364TrpfsTer?)
c.*6892_*6893insTG (n.*6892_*6893insTG)
c.745-4262_745-4261insTG (n.745-4262_745-4261insTG)
c.152-4262_152-4261insTG
n.264_265insTG
c.6987_6988insTG (p.Ala2330TrpfsTer?)
c.6792_6793insTG (p.Ala2265TrpfsTer?)
c.6960_6961insTG (p.Ala2321TrpfsTer?)
 gnomAD v4
16g.89279453A=CA2241586733ANKRD11c.7089T= (p.Pro2363=)
c.*6892T= (n.*6892T=)
c.745-4262T= (n.745-4262T=)
c.152-4262T=
n.264T=
c.6987T= (p.Pro2329=)
c.6792T= (p.Pro2264=)
c.6960T= (p.Pro2320=)
16g.89279453A>CCA497372732ANKRD11c.7089T>G (p.Pro2363=)
c.*6892T>G (n.*6892T>G)
c.745-4262T>G (n.745-4262T>G)
c.152-4262T>G
n.264T>G
c.6987T>G (p.Pro2329=)
c.6792T>G (p.Pro2264=)
c.6960T>G (p.Pro2320=)
 gnomAD v4
16g.89279453A>GCA497372733ANKRD11c.7089T>C (p.Pro2363=)
c.*6892T>C (n.*6892T>C)
c.745-4262T>C (n.745-4262T>C)
c.152-4262T>C
n.264T>C
c.6987T>C (p.Pro2329=)
c.6792T>C (p.Pro2264=)
c.6960T>C (p.Pro2320=)
 dbSNP gnomAD v3 gnomAD v4
16g.89279453A>TCA497372735ANKRD11c.7089T>A (p.Pro2363=)
c.*6892T>A (n.*6892T>A)
c.745-4262T>A (n.745-4262T>A)
c.152-4262T>A
n.264T>A
c.6987T>A (p.Pro2329=)
c.6792T>A (p.Pro2264=)
c.6960T>A (p.Pro2320=)
 gnomAD v4
16g.89279454G>ACA397149351ANKRD11c.7088C>T (p.Pro2363Leu)
c.*6891C>T (n.*6891C>T)
c.745-4263C>T (n.745-4263C>T)
c.152-4263C>T
n.263C>T
c.6986C>T (p.Pro2329Leu)
c.6791C>T (p.Pro2264Leu)
c.6959C>T (p.Pro2320Leu)
 dbSNP gnomAD v4
16g.89279454G>CCA397149353ANKRD11c.7088C>G (p.Pro2363Arg)
c.*6891C>G (n.*6891C>G)
c.745-4263C>G (n.745-4263C>G)
c.152-4263C>G
n.263C>G
c.6986C>G (p.Pro2329Arg)
c.6791C>G (p.Pro2264Arg)
c.6959C>G (p.Pro2320Arg)
 gnomAD v4
16g.89279454G=CA2241586734ANKRD11c.7088C= (p.Pro2363=)
c.*6891C= (n.*6891C=)
c.745-4263C= (n.745-4263C=)
c.152-4263C=
n.263C=
c.6986C= (p.Pro2329=)
c.6791C= (p.Pro2264=)
c.6959C= (p.Pro2320=)
16g.89279454G>TCA397149352ANKRD11c.7088C>A (p.Pro2363His)
c.*6891C>A (n.*6891C>A)
c.745-4263C>A (n.745-4263C>A)
c.152-4263C>A
n.263C>A
c.6986C>A (p.Pro2329His)
c.6791C>A (p.Pro2264His)
c.6959C>A (p.Pro2320His)
16g.89279455G>ACA397149354ANKRD11c.7087C>T (p.Pro2363Ser)
c.*6890C>T (n.*6890C>T)
c.745-4264C>T (n.745-4264C>T)
c.152-4264C>T
n.262C>T
c.6985C>T (p.Pro2329Ser)
c.6790C>T (p.Pro2264Ser)
c.6958C>T (p.Pro2320Ser)
 dbSNP gnomAD v4
16g.89279455G>CCA8241296ANKRD11c.7087C>G (p.Pro2363Ala)
c.*6890C>G (n.*6890C>G)
c.745-4264C>G (n.745-4264C>G)
c.152-4264C>G
n.262C>G
c.6985C>G (p.Pro2329Ala)
c.6790C>G (p.Pro2264Ala)
c.6958C>G (p.Pro2320Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279455G=CA2241586735ANKRD11c.7087C= (p.Pro2363=)
c.*6890C= (n.*6890C=)
c.745-4264C= (n.745-4264C=)
c.152-4264C=
n.262C=
c.6985C= (p.Pro2329=)
c.6790C= (p.Pro2264=)
c.6958C= (p.Pro2320=)
16g.89279455G>TCA397149355ANKRD11c.7087C>A (p.Pro2363Thr)
c.*6890C>A (n.*6890C>A)
c.745-4264C>A (n.745-4264C>A)
c.152-4264C>A
n.262C>A
c.6985C>A (p.Pro2329Thr)
c.6790C>A (p.Pro2264Thr)
c.6958C>A (p.Pro2320Thr)
16g.89279456G>ACA497372742ANKRD11c.7086C>T (p.Thr2362=)
c.*6889C>T (n.*6889C>T)
c.745-4265C>T (n.745-4265C>T)
c.152-4265C>T
n.261C>T
c.6984C>T (p.Thr2328=)
c.6789C>T (p.Thr2263=)
c.6957C>T (p.Thr2319=)
 dbSNP gnomAD v4
16g.89279456G>CCA497372744ANKRD11c.7086C>G (p.Thr2362=)
c.*6889C>G (n.*6889C>G)
c.745-4265C>G (n.745-4265C>G)
c.152-4265C>G
n.261C>G
c.6984C>G (p.Thr2328=)
c.6789C>G (p.Thr2263=)
c.6957C>G (p.Thr2319=)
 dbSNP
16g.89279456G=CA2241586736ANKRD11c.7086C= (p.Thr2362=)
c.*6889C= (n.*6889C=)
c.745-4265C= (n.745-4265C=)
c.152-4265C=
n.261C=
c.6984C= (p.Thr2328=)
c.6789C= (p.Thr2263=)
c.6957C= (p.Thr2319=)
16g.89279456G>TCA497372743ANKRD11c.7086C>A (p.Thr2362=)
c.*6889C>A (n.*6889C>A)
c.745-4265C>A (n.745-4265C>A)
c.152-4265C>A
n.261C>A
c.6984C>A (p.Thr2328=)
c.6789C>A (p.Thr2263=)
c.6957C>A (p.Thr2319=)
16g.89279457G>ACA397149356ANKRD11c.7085C>T (p.Thr2362Ile)
c.*6888C>T (n.*6888C>T)
c.745-4266C>T (n.745-4266C>T)
c.152-4266C>T
n.260C>T
c.6983C>T (p.Thr2328Ile)
c.6788C>T (p.Thr2263Ile)
c.6956C>T (p.Thr2319Ile)
16g.89279457G>CCA397149357ANKRD11c.7085C>G (p.Thr2362Ser)
c.*6888C>G (n.*6888C>G)
c.745-4266C>G (n.745-4266C>G)
c.152-4266C>G
n.260C>G
c.6983C>G (p.Thr2328Ser)
c.6788C>G (p.Thr2263Ser)
c.6956C>G (p.Thr2319Ser)
16g.89279457G>TCA397149358ANKRD11c.7085C>A (p.Thr2362Asn)
c.*6888C>A (n.*6888C>A)
c.745-4266C>A (n.745-4266C>A)
c.152-4266C>A
n.260C>A
c.6983C>A (p.Thr2328Asn)
c.6788C>A (p.Thr2263Asn)
c.6956C>A (p.Thr2319Asn)
16g.89279458T>ACA397149359ANKRD11c.7084A>T (p.Thr2362Ser)
c.*6887A>T (n.*6887A>T)
c.745-4267A>T (n.745-4267A>T)
c.152-4267A>T
n.259A>T
c.6982A>T (p.Thr2328Ser)
c.6787A>T (p.Thr2263Ser)
c.6955A>T (p.Thr2319Ser)
16g.89279458T>CCA397149360ANKRD11c.7084A>G (p.Thr2362Ala)
c.*6887A>G (n.*6887A>G)
c.745-4267A>G (n.745-4267A>G)
c.152-4267A>G
n.259A>G
c.6982A>G (p.Thr2328Ala)
c.6787A>G (p.Thr2263Ala)
c.6955A>G (p.Thr2319Ala)
 dbSNP
16g.89279458T>GCA397149361ANKRD11c.7084A>C (p.Thr2362Pro)
c.*6887A>C (n.*6887A>C)
c.745-4267A>C (n.745-4267A>C)
c.152-4267A>C
n.259A>C
c.6982A>C (p.Thr2328Pro)
c.6787A>C (p.Thr2263Pro)
c.6955A>C (p.Thr2319Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.89279458T=CA2241586737ANKRD11c.7084A= (p.Thr2362=)
c.*6887A= (n.*6887A=)
c.745-4267A= (n.745-4267A=)
c.152-4267A=
n.259A=
c.6982A= (p.Thr2328=)
c.6787A= (p.Thr2263=)
c.6955A= (p.Thr2319=)
16g.89279459G>ACA497372748ANKRD11c.7083C>T (p.Pro2361=)
c.*6886C>T (n.*6886C>T)
c.745-4268C>T (n.745-4268C>T)
c.152-4268C>T
n.258C>T
c.6981C>T (p.Pro2327=)
c.6786C>T (p.Pro2262=)
c.6954C>T (p.Pro2318=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279459G>CCA497372749ANKRD11c.7083C>G (p.Pro2361=)
c.*6886C>G (n.*6886C>G)
c.745-4268C>G (n.745-4268C>G)
c.152-4268C>G
n.258C>G
c.6981C>G (p.Pro2327=)
c.6786C>G (p.Pro2262=)
c.6954C>G (p.Pro2318=)
16g.89279459G=CA2241586738ANKRD11c.7083C= (p.Pro2361=)
c.*6886C= (n.*6886C=)
c.745-4268C= (n.745-4268C=)
c.152-4268C=
n.258C=
c.6981C= (p.Pro2327=)
c.6786C= (p.Pro2262=)
c.6954C= (p.Pro2318=)
16g.89279459G>TCA497372750ANKRD11c.7083C>A (p.Pro2361=)
c.*6886C>A (n.*6886C>A)
c.745-4268C>A (n.745-4268C>A)
c.152-4268C>A
n.258C>A
c.6981C>A (p.Pro2327=)
c.6786C>A (p.Pro2262=)
c.6954C>A (p.Pro2318=)
 ClinVar dbSNP gnomAD v4
16g.89279463dupCA10603284ANKRD11c.7083dup (p.Thr2362HisfsTer?)
c.*6886dup (n.*6886dup)
c.745-4268dup (n.745-4268dup)
c.152-4268dup
n.258dup
c.6981dup (p.Thr2328HisfsTer?)
c.6786dup (p.Thr2263HisfsTer?)
c.6954dup (p.Thr2319HisfsTer?)
 ClinVar dbSNP
16g.89279463delCA2695223897ANKRD11c.7083del (p.Thr2362ProfsTer?)
c.*6886del (n.*6886del)
c.745-4268del (n.745-4268del)
c.152-4268del
n.258del
c.6981del (p.Thr2328ProfsTer?)
c.6786del (p.Thr2263ProfsTer?)
c.6954del (p.Thr2319ProfsTer?)
16g.89279460G>ACA397149362ANKRD11c.7082C>T (p.Pro2361Leu)
c.*6885C>T (n.*6885C>T)
c.745-4269C>T (n.745-4269C>T)
c.152-4269C>T
n.257C>T
c.6980C>T (p.Pro2327Leu)
c.6785C>T (p.Pro2262Leu)
c.6953C>T (p.Pro2318Leu)
 dbSNP
16g.89279460G>CCA397149363ANKRD11c.7082C>G (p.Pro2361Arg)
c.*6885C>G (n.*6885C>G)
c.745-4269C>G (n.745-4269C>G)
c.152-4269C>G
n.257C>G
c.6980C>G (p.Pro2327Arg)
c.6785C>G (p.Pro2262Arg)
c.6953C>G (p.Pro2318Arg)
16g.89279460G=CA2241586739ANKRD11c.7082C= (p.Pro2361=)
c.*6885C= (n.*6885C=)
c.745-4269C= (n.745-4269C=)
c.152-4269C=
n.257C=
c.6980C= (p.Pro2327=)
c.6785C= (p.Pro2262=)
c.6953C= (p.Pro2318=)
16g.89279460G>TCA397149364ANKRD11c.7082C>A (p.Pro2361His)
c.*6885C>A (n.*6885C>A)
c.745-4269C>A (n.745-4269C>A)
c.152-4269C>A
n.257C>A
c.6980C>A (p.Pro2327His)
c.6785C>A (p.Pro2262His)
c.6953C>A (p.Pro2318His)
16g.89279461G>ACA397149365ANKRD11c.7081C>T (p.Pro2361Ser)
c.*6884C>T (n.*6884C>T)
c.745-4270C>T (n.745-4270C>T)
c.152-4270C>T
n.256C>T
c.6979C>T (p.Pro2327Ser)
c.6784C>T (p.Pro2262Ser)
c.6952C>T (p.Pro2318Ser)
16g.89279461G>CCA397149367ANKRD11c.7081C>G (p.Pro2361Ala)
c.*6884C>G (n.*6884C>G)
c.745-4270C>G (n.745-4270C>G)
c.152-4270C>G
n.256C>G
c.6979C>G (p.Pro2327Ala)
c.6784C>G (p.Pro2262Ala)
c.6952C>G (p.Pro2318Ala)
16g.89279461G>TCA397149366ANKRD11c.7081C>A (p.Pro2361Thr)
c.*6884C>A (n.*6884C>A)
c.745-4270C>A (n.745-4270C>A)
c.152-4270C>A
n.256C>A
c.6979C>A (p.Pro2327Thr)
c.6784C>A (p.Pro2262Thr)
c.6952C>A (p.Pro2318Thr)
16g.89279462G>ACA497372754ANKRD11c.7080C>T (p.Ala2360=)
c.*6883C>T (n.*6883C>T)
c.745-4271C>T (n.745-4271C>T)
c.152-4271C>T
n.255C>T
c.6978C>T (p.Ala2326=)
c.6783C>T (p.Ala2261=)
c.6951C>T (p.Ala2317=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279462G>CCA497372755ANKRD11c.7080C>G (p.Ala2360=)
c.*6883C>G (n.*6883C>G)
c.745-4271C>G (n.745-4271C>G)
c.152-4271C>G
n.255C>G
c.6978C>G (p.Ala2326=)
c.6783C>G (p.Ala2261=)
c.6951C>G (p.Ala2317=)
16g.89279462G=CA2241586740ANKRD11c.7080C= (p.Ala2360=)
c.*6883C= (n.*6883C=)
c.745-4271C= (n.745-4271C=)
c.152-4271C=
n.255C=
c.6978C= (p.Ala2326=)
c.6783C= (p.Ala2261=)
c.6951C= (p.Ala2317=)
16g.89279462G>TCA497372756ANKRD11c.7080C>A (p.Ala2360=)
c.*6883C>A (n.*6883C>A)
c.745-4271C>A (n.745-4271C>A)
c.152-4271C>A
n.255C>A
c.6978C>A (p.Ala2326=)
c.6783C>A (p.Ala2261=)
c.6951C>A (p.Ala2317=)
16g.89279463G>ACA397149368ANKRD11c.7079C>T (p.Ala2360Val)
c.*6882C>T (n.*6882C>T)
c.745-4272C>T (n.745-4272C>T)
c.152-4272C>T
n.254C>T
c.6977C>T (p.Ala2326Val)
c.6782C>T (p.Ala2261Val)
c.6950C>T (p.Ala2317Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279463G>CCA397149369ANKRD11c.7079C>G (p.Ala2360Gly)
c.*6882C>G (n.*6882C>G)
c.745-4272C>G (n.745-4272C>G)
c.152-4272C>G
n.254C>G
c.6977C>G (p.Ala2326Gly)
c.6782C>G (p.Ala2261Gly)
c.6950C>G (p.Ala2317Gly)
16g.89279463G=CA2241586741ANKRD11c.7079C= (p.Ala2360=)
c.*6882C= (n.*6882C=)
c.745-4272C= (n.745-4272C=)
c.152-4272C=
n.254C=
c.6977C= (p.Ala2326=)
c.6782C= (p.Ala2261=)
c.6950C= (p.Ala2317=)
16g.89279463G>TCA397149370ANKRD11c.7079C>A (p.Ala2360Asp)
c.*6882C>A (n.*6882C>A)
c.745-4272C>A (n.745-4272C>A)
c.152-4272C>A
n.254C>A
c.6977C>A (p.Ala2326Asp)
c.6782C>A (p.Ala2261Asp)
c.6950C>A (p.Ala2317Asp)
16g.89279464C>ACA397149371ANKRD11c.7078G>T (p.Ala2360Ser)
c.*6881G>T (n.*6881G>T)
c.745-4273G>T (n.745-4273G>T)
c.152-4273G>T
n.253G>T
c.6976G>T (p.Ala2326Ser)
c.6781G>T (p.Ala2261Ser)
c.6949G>T (p.Ala2317Ser)
 gnomAD v4
16g.89279464C=CA2241586742ANKRD11c.7078G= (p.Ala2360=)
c.*6881G= (n.*6881G=)
c.745-4273G= (n.745-4273G=)
c.152-4273G=
n.253G=
c.6976G= (p.Ala2326=)
c.6781G= (p.Ala2261=)
c.6949G= (p.Ala2317=)
16g.89279464C>GCA397149372ANKRD11c.7078G>C (p.Ala2360Pro)
c.*6881G>C (n.*6881G>C)
c.745-4273G>C (n.745-4273G>C)
c.152-4273G>C
n.253G>C
c.6976G>C (p.Ala2326Pro)
c.6781G>C (p.Ala2261Pro)
c.6949G>C (p.Ala2317Pro)
 dbSNP
16g.89279464C>TCA397149373ANKRD11c.7078G>A (p.Ala2360Thr)
c.*6881G>A (n.*6881G>A)
c.745-4273G>A (n.745-4273G>A)
c.152-4273G>A
n.253G>A
c.6976G>A (p.Ala2326Thr)
c.6781G>A (p.Ala2261Thr)
c.6949G>A (p.Ala2317Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279465G>ACA497372758ANKRD11c.7077C>T (p.Cys2359=)
c.*6880C>T (n.*6880C>T)
c.745-4274C>T (n.745-4274C>T)
c.152-4274C>T
n.252C>T
c.6975C>T (p.Cys2325=)
c.6780C>T (p.Cys2260=)
c.6948C>T (p.Cys2316=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279465G>CCA397149374ANKRD11c.7077C>G (p.Cys2359Trp)
c.*6880C>G (n.*6880C>G)
c.745-4274C>G (n.745-4274C>G)
c.152-4274C>G
n.252C>G
c.6975C>G (p.Cys2325Trp)
c.6780C>G (p.Cys2260Trp)
c.6948C>G (p.Cys2316Trp)
 gnomAD v4
16g.89279465G=CA2241586743ANKRD11c.7077C= (p.Cys2359=)
c.*6880C= (n.*6880C=)
c.745-4274C= (n.745-4274C=)
c.152-4274C=
n.252C=
c.6975C= (p.Cys2325=)
c.6780C= (p.Cys2260=)
c.6948C= (p.Cys2316=)
16g.89279465G>TCA397149375ANKRD11c.7077C>A (p.Cys2359Ter)
c.*6880C>A (n.*6880C>A)
c.745-4274C>A (n.745-4274C>A)
c.152-4274C>A
n.252C>A
c.6975C>A (p.Cys2325Ter)
c.6780C>A (p.Cys2260Ter)
c.6948C>A (p.Cys2316Ter)
16g.89279466C>ACA397149376ANKRD11c.7076G>T (p.Cys2359Phe)
c.*6879G>T (n.*6879G>T)
c.745-4275G>T (n.745-4275G>T)
c.152-4275G>T
n.251G>T
c.6974G>T (p.Cys2325Phe)
c.6779G>T (p.Cys2260Phe)
c.6947G>T (p.Cys2316Phe)
16g.89279466C>GCA397149377ANKRD11c.7076G>C (p.Cys2359Ser)
c.*6879G>C (n.*6879G>C)
c.745-4275G>C (n.745-4275G>C)
c.152-4275G>C
n.251G>C
c.6974G>C (p.Cys2325Ser)
c.6779G>C (p.Cys2260Ser)
c.6947G>C (p.Cys2316Ser)
16g.89279466C>TCA397149378ANKRD11c.7076G>A (p.Cys2359Tyr)
c.*6879G>A (n.*6879G>A)
c.745-4275G>A (n.745-4275G>A)
c.152-4275G>A
n.251G>A
c.6974G>A (p.Cys2325Tyr)
c.6779G>A (p.Cys2260Tyr)
c.6947G>A (p.Cys2316Tyr)

Number of alleles fetched