Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89284246_89284249delCA2241602395ANKRD11c.2297_2300del (p.Lys766ArgfsTer10)
c.*2100_*2103del (n.*2100_*2103del)
c.1922_1925del (p.Lys641ArgfsTer10)
c.744+4283_744+4286del (n.744+4283_744+4286del)
c.151+4283_151+4286del
c.2195_2198del (p.Lys732ArgfsTer10)
c.2000_2003del (p.Lys667ArgfsTer10)
c.2168_2171del (p.Lys723ArgfsTer10)
 ClinVar dbSNP
16g.89284244_89284247delinsCTTTCA2241602399ANKRD11c.2295_2298delinsAAAG (p.Arg765=)
c.*2098_*2101delinsAAAG (n.*2098_*2101delinsAAAG)
c.1920_1923delinsAAAG (p.Arg640=)
c.744+4281_744+4284delinsAAAG (n.744+4281_744+4284delinsAAAG)
c.151+4281_151+4284delinsAAAG
c.2193_2196delinsAAAG (p.Arg731=)
c.1998_2001delinsAAAG (p.Arg666=)
c.2166_2169delinsAAAG (p.Arg722=)
16g.89284245_89284247delCA8242604ANKRD11c.2295_2297del (p.Lys766del)
c.*2098_*2100del (n.*2098_*2100del)
c.1920_1922del (p.Lys641del)
c.744+4281_744+4283del (n.744+4281_744+4283del)
c.151+4281_151+4283del
c.2193_2195del (p.Lys732del)
c.1998_2000del (p.Lys667del)
c.2166_2168del (p.Lys723del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284247T>ACA397162743ANKRD11c.2295A>T (p.Arg765Ser)
c.*2098A>T (n.*2098A>T)
c.1920A>T (p.Arg640Ser)
c.744+4281A>T (n.744+4281A>T)
c.151+4281A>T
c.2193A>T (p.Arg731Ser)
c.1998A>T (p.Arg666Ser)
c.2166A>T (p.Arg722Ser)
16g.89284247T>CCA497375263ANKRD11c.2295A>G (p.Arg765=)
c.*2098A>G (n.*2098A>G)
c.1920A>G (p.Arg640=)
c.744+4281A>G (n.744+4281A>G)
c.151+4281A>G
c.2193A>G (p.Arg731=)
c.1998A>G (p.Arg666=)
c.2166A>G (p.Arg722=)
16g.89284247T>GCA397162744ANKRD11c.2295A>C (p.Arg765Ser)
c.*2098A>C (n.*2098A>C)
c.1920A>C (p.Arg640Ser)
c.744+4281A>C (n.744+4281A>C)
c.151+4281A>C
c.2193A>C (p.Arg731Ser)
c.1998A>C (p.Arg666Ser)
c.2166A>C (p.Arg722Ser)
16g.89284248C>ACA397162745ANKRD11c.2294G>T (p.Arg765Ile)
c.*2097G>T (n.*2097G>T)
c.1919G>T (p.Arg640Ile)
c.744+4280G>T (n.744+4280G>T)
c.151+4280G>T
c.2192G>T (p.Arg731Ile)
c.1997G>T (p.Arg666Ile)
c.2165G>T (p.Arg722Ile)
16g.89284248C>GCA397162746ANKRD11c.2294G>C (p.Arg765Thr)
c.*2097G>C (n.*2097G>C)
c.1919G>C (p.Arg640Thr)
c.744+4280G>C (n.744+4280G>C)
c.151+4280G>C
c.2192G>C (p.Arg731Thr)
c.1997G>C (p.Arg666Thr)
c.2165G>C (p.Arg722Thr)
16g.89284248C>TCA397162747ANKRD11c.2294G>A (p.Arg765Lys)
c.*2097G>A (n.*2097G>A)
c.1919G>A (p.Arg640Lys)
c.744+4280G>A (n.744+4280G>A)
c.151+4280G>A
c.2192G>A (p.Arg731Lys)
c.1997G>A (p.Arg666Lys)
c.2165G>A (p.Arg722Lys)
16g.89284249T>ACA397162748ANKRD11c.2293A>T (p.Arg765Ter)
c.*2096A>T (n.*2096A>T)
c.1918A>T (p.Arg640Ter)
c.744+4279A>T (n.744+4279A>T)
c.151+4279A>T
c.2191A>T (p.Arg731Ter)
c.1996A>T (p.Arg666Ter)
c.2164A>T (p.Arg722Ter)
16g.89284249T>CCA397162749ANKRD11c.2293A>G (p.Arg765Gly)
c.*2096A>G (n.*2096A>G)
c.1918A>G (p.Arg640Gly)
c.744+4279A>G (n.744+4279A>G)
c.151+4279A>G
c.2191A>G (p.Arg731Gly)
c.1996A>G (p.Arg666Gly)
c.2164A>G (p.Arg722Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89284249T>GCA497375264ANKRD11c.2293A>C (p.Arg765=)
c.*2096A>C (n.*2096A>C)
c.1918A>C (p.Arg640=)
c.744+4279A>C (n.744+4279A>C)
c.151+4279A>C
c.2191A>C (p.Arg731=)
c.1996A>C (p.Arg666=)
c.2164A>C (p.Arg722=)
16g.89284249T=CA2241602408ANKRD11c.2293A= (p.Arg765=)
c.*2096A= (n.*2096A=)
c.1918A= (p.Arg640=)
c.744+4279A= (n.744+4279A=)
c.151+4279A=
c.2191A= (p.Arg731=)
c.1996A= (p.Arg666=)
c.2164A= (p.Arg722=)
16g.89284249_89284252delinsTCTCCA2241602407ANKRD11c.2290_2293delinsGAGA (p.Glu764=)
c.*2093_*2096delinsGAGA (n.*2093_*2096delinsGAGA)
c.1915_1918delinsGAGA (p.Glu639=)
c.744+4276_744+4279delinsGAGA (n.744+4276_744+4279delinsGAGA)
c.151+4276_151+4279delinsGAGA
c.2188_2191delinsGAGA (p.Glu730=)
c.1993_1996delinsGAGA (p.Glu665=)
c.2161_2164delinsGAGA (p.Glu721=)
16g.89284250C>ACA397162751ANKRD11c.2292G>T (p.Glu764Asp)
c.*2095G>T (n.*2095G>T)
c.1917G>T (p.Glu639Asp)
c.744+4278G>T (n.744+4278G>T)
c.151+4278G>T
c.2190G>T (p.Glu730Asp)
c.1995G>T (p.Glu665Asp)
c.2163G>T (p.Glu721Asp)
16g.89284250C=CA2241602412ANKRD11c.2292G= (p.Glu764=)
c.*2095G= (n.*2095G=)
c.1917G= (p.Glu639=)
c.744+4278G= (n.744+4278G=)
c.151+4278G=
c.2190G= (p.Glu730=)
c.1995G= (p.Glu665=)
c.2163G= (p.Glu721=)
16g.89284250C>GCA397162750ANKRD11c.2292G>C (p.Glu764Asp)
c.*2095G>C (n.*2095G>C)
c.1917G>C (p.Glu639Asp)
c.744+4278G>C (n.744+4278G>C)
c.151+4278G>C
c.2190G>C (p.Glu730Asp)
c.1995G>C (p.Glu665Asp)
c.2163G>C (p.Glu721Asp)
16g.89284250C>TCA8242606ANKRD11c.2292G>A (p.Glu764=)
c.*2095G>A (n.*2095G>A)
c.1917G>A (p.Glu639=)
c.744+4278G>A (n.744+4278G>A)
c.151+4278G>A
c.2190G>A (p.Glu730=)
c.1995G>A (p.Glu665=)
c.2163G>A (p.Glu721=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284253_89284255delCA8242605ANKRD11c.2290_2292del (p.Glu764del)
c.*2093_*2095del (n.*2093_*2095del)
c.1915_1917del (p.Glu639del)
c.744+4276_744+4278del (n.744+4276_744+4278del)
c.151+4276_151+4278del
c.2188_2190del (p.Glu730del)
c.1993_1995del (p.Glu665del)
c.2161_2163del (p.Glu721del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284251T>ACA397162752ANKRD11c.2291A>T (p.Glu764Val)
c.*2094A>T (n.*2094A>T)
c.1916A>T (p.Glu639Val)
c.744+4277A>T (n.744+4277A>T)
c.151+4277A>T
c.2189A>T (p.Glu730Val)
c.1994A>T (p.Glu665Val)
c.2162A>T (p.Glu721Val)
16g.89284251T>CCA397162753ANKRD11c.2291A>G (p.Glu764Gly)
c.*2094A>G (n.*2094A>G)
c.1916A>G (p.Glu639Gly)
c.744+4277A>G (n.744+4277A>G)
c.151+4277A>G
c.2189A>G (p.Glu730Gly)
c.1994A>G (p.Glu665Gly)
c.2162A>G (p.Glu721Gly)
16g.89284251T>GCA397162754ANKRD11c.2291A>C (p.Glu764Ala)
c.*2094A>C (n.*2094A>C)
c.1916A>C (p.Glu639Ala)
c.744+4277A>C (n.744+4277A>C)
c.151+4277A>C
c.2189A>C (p.Glu730Ala)
c.1994A>C (p.Glu665Ala)
c.2162A>C (p.Glu721Ala)
16g.89284252C>ACA397162755ANKRD11c.2290G>T (p.Glu764Ter)
c.*2093G>T (n.*2093G>T)
c.1915G>T (p.Glu639Ter)
c.744+4276G>T (n.744+4276G>T)
c.151+4276G>T
c.2188G>T (p.Glu730Ter)
c.1993G>T (p.Glu665Ter)
c.2161G>T (p.Glu721Ter)
16g.89284252C=CA2241602414ANKRD11c.2290G= (p.Glu764=)
c.*2093G= (n.*2093G=)
c.1915G= (p.Glu639=)
c.744+4276G= (n.744+4276G=)
c.151+4276G=
c.2188G= (p.Glu730=)
c.1993G= (p.Glu665=)
c.2161G= (p.Glu721=)
16g.89284252C>GCA397162756ANKRD11c.2290G>C (p.Glu764Gln)
c.*2093G>C (n.*2093G>C)
c.1915G>C (p.Glu639Gln)
c.744+4276G>C (n.744+4276G>C)
c.151+4276G>C
c.2188G>C (p.Glu730Gln)
c.1993G>C (p.Glu665Gln)
c.2161G>C (p.Glu721Gln)
16g.89284252C>TCA397162757ANKRD11c.2290G>A (p.Glu764Lys)
c.*2093G>A (n.*2093G>A)
c.1915G>A (p.Glu639Lys)
c.744+4276G>A (n.744+4276G>A)
c.151+4276G>A
c.2188G>A (p.Glu730Lys)
c.1993G>A (p.Glu665Lys)
c.2161G>A (p.Glu721Lys)
 ClinVar dbSNP gnomAD v4
16g.89284253C>ACA397162758ANKRD11c.2289G>T (p.Glu763Asp)
c.*2092G>T (n.*2092G>T)
c.1914G>T (p.Glu638Asp)
c.744+4275G>T (n.744+4275G>T)
c.151+4275G>T
c.2187G>T (p.Glu729Asp)
c.1992G>T (p.Glu664Asp)
c.2160G>T (p.Glu720Asp)
16g.89284253C>GCA397162759ANKRD11c.2289G>C (p.Glu763Asp)
c.*2092G>C (n.*2092G>C)
c.1914G>C (p.Glu638Asp)
c.744+4275G>C (n.744+4275G>C)
c.151+4275G>C
c.2187G>C (p.Glu729Asp)
c.1992G>C (p.Glu664Asp)
c.2160G>C (p.Glu720Asp)
16g.89284253C>TCA497375265ANKRD11c.2289G>A (p.Glu763=)
c.*2092G>A (n.*2092G>A)
c.1914G>A (p.Glu638=)
c.744+4275G>A (n.744+4275G>A)
c.151+4275G>A
c.2187G>A (p.Glu729=)
c.1992G>A (p.Glu664=)
c.2160G>A (p.Glu720=)
16g.89284255_89284256delCA2580613983ANKRD11c.2288_2289del (p.Glu763GlyfsTer18)
c.*2091_*2092del (n.*2091_*2092del)
c.1913_1914del (p.Glu638GlyfsTer18)
c.744+4274_744+4275del (n.744+4274_744+4275del)
c.151+4274_151+4275del
c.2186_2187del (p.Glu729GlyfsTer18)
c.1991_1992del (p.Glu664GlyfsTer18)
c.2159_2160del (p.Glu720GlyfsTer18)
 ClinVar dbSNP
16g.89284254T>ACA397162760ANKRD11c.2288A>T (p.Glu763Val)
c.*2091A>T (n.*2091A>T)
c.1913A>T (p.Glu638Val)
c.744+4274A>T (n.744+4274A>T)
c.151+4274A>T
c.2186A>T (p.Glu729Val)
c.1991A>T (p.Glu664Val)
c.2159A>T (p.Glu720Val)
16g.89284254T>CCA397162761ANKRD11c.2288A>G (p.Glu763Gly)
c.*2091A>G (n.*2091A>G)
c.1913A>G (p.Glu638Gly)
c.744+4274A>G (n.744+4274A>G)
c.151+4274A>G
c.2186A>G (p.Glu729Gly)
c.1991A>G (p.Glu664Gly)
c.2159A>G (p.Glu720Gly)
16g.89284254T>GCA397162762ANKRD11c.2288A>C (p.Glu763Ala)
c.*2091A>C (n.*2091A>C)
c.1913A>C (p.Glu638Ala)
c.744+4274A>C (n.744+4274A>C)
c.151+4274A>C
c.2186A>C (p.Glu729Ala)
c.1991A>C (p.Glu664Ala)
c.2159A>C (p.Glu720Ala)
16g.89284255C>ACA397162765ANKRD11c.2287G>T (p.Glu763Ter)
c.*2090G>T (n.*2090G>T)
c.1912G>T (p.Glu638Ter)
c.744+4273G>T (n.744+4273G>T)
c.151+4273G>T
c.2185G>T (p.Glu729Ter)
c.1990G>T (p.Glu664Ter)
c.2158G>T (p.Glu720Ter)
 COSMIC
16g.89284255C>GCA397162764ANKRD11c.2287G>C (p.Glu763Gln)
c.*2090G>C (n.*2090G>C)
c.1912G>C (p.Glu638Gln)
c.744+4273G>C (n.744+4273G>C)
c.151+4273G>C
c.2185G>C (p.Glu729Gln)
c.1990G>C (p.Glu664Gln)
c.2158G>C (p.Glu720Gln)
 gnomAD v4
16g.89284255C>TCA397162763ANKRD11c.2287G>A (p.Glu763Lys)
c.*2090G>A (n.*2090G>A)
c.1912G>A (p.Glu638Lys)
c.744+4273G>A (n.744+4273G>A)
c.151+4273G>A
c.2185G>A (p.Glu729Lys)
c.1990G>A (p.Glu664Lys)
c.2158G>A (p.Glu720Lys)
16g.89284256T>ACA397162766ANKRD11c.2286A>T (p.Lys762Asn)
c.*2089A>T (n.*2089A>T)
c.1911A>T (p.Lys637Asn)
c.744+4272A>T (n.744+4272A>T)
c.151+4272A>T
c.2184A>T (p.Lys728Asn)
c.1989A>T (p.Lys663Asn)
c.2157A>T (p.Lys719Asn)
16g.89284256T>CCA497375266ANKRD11c.2286A>G (p.Lys762=)
c.*2089A>G (n.*2089A>G)
c.1911A>G (p.Lys637=)
c.744+4272A>G (n.744+4272A>G)
c.151+4272A>G
c.2184A>G (p.Lys728=)
c.1989A>G (p.Lys663=)
c.2157A>G (p.Lys719=)
16g.89284256T>GCA397162767ANKRD11c.2286A>C (p.Lys762Asn)
c.*2089A>C (n.*2089A>C)
c.1911A>C (p.Lys637Asn)
c.744+4272A>C (n.744+4272A>C)
c.151+4272A>C
c.2184A>C (p.Lys728Asn)
c.1989A>C (p.Lys663Asn)
c.2157A>C (p.Lys719Asn)
16g.89284257T>ACA397162768ANKRD11c.2285A>T (p.Lys762Ile)
c.*2088A>T (n.*2088A>T)
c.1910A>T (p.Lys637Ile)
c.744+4271A>T (n.744+4271A>T)
c.151+4271A>T
c.2183A>T (p.Lys728Ile)
c.1988A>T (p.Lys663Ile)
c.2156A>T (p.Lys719Ile)
16g.89284257T>CCA397162769ANKRD11c.2285A>G (p.Lys762Arg)
c.*2088A>G (n.*2088A>G)
c.1910A>G (p.Lys637Arg)
c.744+4271A>G (n.744+4271A>G)
c.151+4271A>G
c.2183A>G (p.Lys728Arg)
c.1988A>G (p.Lys663Arg)
c.2156A>G (p.Lys719Arg)
16g.89284257T>GCA397162770ANKRD11c.2285A>C (p.Lys762Thr)
c.*2088A>C (n.*2088A>C)
c.1910A>C (p.Lys637Thr)
c.744+4271A>C (n.744+4271A>C)
c.151+4271A>C
c.2183A>C (p.Lys728Thr)
c.1988A>C (p.Lys663Thr)
c.2156A>C (p.Lys719Thr)
16g.89284258T>ACA397162771ANKRD11c.2284A>T (p.Lys762Ter)
c.*2087A>T (n.*2087A>T)
c.1909A>T (p.Lys637Ter)
c.744+4270A>T (n.744+4270A>T)
c.151+4270A>T
c.2182A>T (p.Lys728Ter)
c.1987A>T (p.Lys663Ter)
c.2155A>T (p.Lys719Ter)
16g.89284258T>CCA397162772ANKRD11c.2284A>G (p.Lys762Glu)
c.*2087A>G (n.*2087A>G)
c.1909A>G (p.Lys637Glu)
c.744+4270A>G (n.744+4270A>G)
c.151+4270A>G
c.2182A>G (p.Lys728Glu)
c.1987A>G (p.Lys663Glu)
c.2155A>G (p.Lys719Glu)
16g.89284258T>GCA397162773ANKRD11c.2284A>C (p.Lys762Gln)
c.*2087A>C (n.*2087A>C)
c.1909A>C (p.Lys637Gln)
c.744+4270A>C (n.744+4270A>C)
c.151+4270A>C
c.2182A>C (p.Lys728Gln)
c.1987A>C (p.Lys663Gln)
c.2155A>C (p.Lys719Gln)
16g.89284259G>ACA497375267ANKRD11c.2283C>T (p.Tyr761=)
c.*2086C>T (n.*2086C>T)
c.1908C>T (p.Tyr636=)
c.744+4269C>T (n.744+4269C>T)
c.151+4269C>T
c.2181C>T (p.Tyr727=)
c.1986C>T (p.Tyr662=)
c.2154C>T (p.Tyr718=)
16g.89284259G>CCA397162774ANKRD11c.2283C>G (p.Tyr761Ter)
c.*2086C>G (n.*2086C>G)
c.1908C>G (p.Tyr636Ter)
c.744+4269C>G (n.744+4269C>G)
c.151+4269C>G
c.2181C>G (p.Tyr727Ter)
c.1986C>G (p.Tyr662Ter)
c.2154C>G (p.Tyr718Ter)
 ClinVar dbSNP
16g.89284259G=CA2241602417ANKRD11c.2283C= (p.Tyr761=)
c.*2086C= (n.*2086C=)
c.1908C= (p.Tyr636=)
c.744+4269C= (n.744+4269C=)
c.151+4269C=
c.2181C= (p.Tyr727=)
c.1986C= (p.Tyr662=)
c.2154C= (p.Tyr718=)
16g.89284259G>TCA397162775ANKRD11c.2283C>A (p.Tyr761Ter)
c.*2086C>A (n.*2086C>A)
c.1908C>A (p.Tyr636Ter)
c.744+4269C>A (n.744+4269C>A)
c.151+4269C>A
c.2181C>A (p.Tyr727Ter)
c.1986C>A (p.Tyr662Ter)
c.2154C>A (p.Tyr718Ter)
16g.89284260T>ACA397162776ANKRD11c.2282A>T (p.Tyr761Phe)
c.*2085A>T (n.*2085A>T)
c.1907A>T (p.Tyr636Phe)
c.744+4268A>T (n.744+4268A>T)
c.151+4268A>T
c.2180A>T (p.Tyr727Phe)
c.1985A>T (p.Tyr662Phe)
c.2153A>T (p.Tyr718Phe)
16g.89284260T>CCA397162777ANKRD11c.2282A>G (p.Tyr761Cys)
c.*2085A>G (n.*2085A>G)
c.1907A>G (p.Tyr636Cys)
c.744+4268A>G (n.744+4268A>G)
c.151+4268A>G
c.2180A>G (p.Tyr727Cys)
c.1985A>G (p.Tyr662Cys)
c.2153A>G (p.Tyr718Cys)
 gnomAD v4
16g.89284260T>GCA397162778ANKRD11c.2282A>C (p.Tyr761Ser)
c.*2085A>C (n.*2085A>C)
c.1907A>C (p.Tyr636Ser)
c.744+4268A>C (n.744+4268A>C)
c.151+4268A>C
c.2180A>C (p.Tyr727Ser)
c.1985A>C (p.Tyr662Ser)
c.2153A>C (p.Tyr718Ser)
16g.89284261A>CCA397162781ANKRD11c.2281T>G (p.Tyr761Asp)
c.*2084T>G (n.*2084T>G)
c.1906T>G (p.Tyr636Asp)
c.744+4267T>G (n.744+4267T>G)
c.151+4267T>G
c.2179T>G (p.Tyr727Asp)
c.1984T>G (p.Tyr662Asp)
c.2152T>G (p.Tyr718Asp)
16g.89284261A>GCA397162779ANKRD11c.2281T>C (p.Tyr761His)
c.*2084T>C (n.*2084T>C)
c.1906T>C (p.Tyr636His)
c.744+4267T>C (n.744+4267T>C)
c.151+4267T>C
c.2179T>C (p.Tyr727His)
c.1984T>C (p.Tyr662His)
c.2152T>C (p.Tyr718His)
16g.89284261A>TCA397162780ANKRD11c.2281T>A (p.Tyr761Asn)
c.*2084T>A (n.*2084T>A)
c.1906T>A (p.Tyr636Asn)
c.744+4267T>A (n.744+4267T>A)
c.151+4267T>A
c.2179T>A (p.Tyr727Asn)
c.1984T>A (p.Tyr662Asn)
c.2152T>A (p.Tyr718Asn)
16g.89284262_89284263delCA2741808830ANKRD11c.2280_2281del (p.Tyr761GlnfsTer20)
c.*2083_*2084del (n.*2083_*2084del)
c.1905_1906del (p.Tyr636GlnfsTer20)
c.744+4266_744+4267del (n.744+4266_744+4267del)
c.151+4266_151+4267del
c.2178_2179del (p.Tyr727GlnfsTer20)
c.1983_1984del (p.Tyr662GlnfsTer20)
c.2151_2152del (p.Tyr718GlnfsTer20)
 ClinVar
16g.89284262C>ACA497375268ANKRD11c.2280G>T (p.Leu760=)
c.*2083G>T (n.*2083G>T)
c.1905G>T (p.Leu635=)
c.744+4266G>T (n.744+4266G>T)
c.151+4266G>T
c.2178G>T (p.Leu726=)
c.1983G>T (p.Leu661=)
c.2151G>T (p.Leu717=)
16g.89284262C=CA2241602418ANKRD11c.2280G= (p.Leu760=)
c.*2083G= (n.*2083G=)
c.1905G= (p.Leu635=)
c.744+4266G= (n.744+4266G=)
c.151+4266G=
c.2178G= (p.Leu726=)
c.1983G= (p.Leu661=)
c.2151G= (p.Leu717=)
16g.89284262C>GCA497375269ANKRD11c.2280G>C (p.Leu760=)
c.*2083G>C (n.*2083G>C)
c.1905G>C (p.Leu635=)
c.744+4266G>C (n.744+4266G>C)
c.151+4266G>C
c.2178G>C (p.Leu726=)
c.1983G>C (p.Leu661=)
c.2151G>C (p.Leu717=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284262C>TCA497375270ANKRD11c.2280G>A (p.Leu760=)
c.*2083G>A (n.*2083G>A)
c.1905G>A (p.Leu635=)
c.744+4266G>A (n.744+4266G>A)
c.151+4266G>A
c.2178G>A (p.Leu726=)
c.1983G>A (p.Leu661=)
c.2151G>A (p.Leu717=)
 dbSNP gnomAD v4
16g.89284263A=CA2241602420ANKRD11c.2279T= (p.Leu760=)
c.*2082T= (n.*2082T=)
c.1904T= (p.Leu635=)
c.744+4265T= (n.744+4265T=)
c.151+4265T=
c.2177T= (p.Leu726=)
c.1982T= (p.Leu661=)
c.2150T= (p.Leu717=)
16g.89284263A>CCA397162782ANKRD11c.2279T>G (p.Leu760Arg)
c.*2082T>G (n.*2082T>G)
c.1904T>G (p.Leu635Arg)
c.744+4265T>G (n.744+4265T>G)
c.151+4265T>G
c.2177T>G (p.Leu726Arg)
c.1982T>G (p.Leu661Arg)
c.2150T>G (p.Leu717Arg)
16g.89284263A>GCA397162783ANKRD11c.2279T>C (p.Leu760Pro)
c.*2082T>C (n.*2082T>C)
c.1904T>C (p.Leu635Pro)
c.744+4265T>C (n.744+4265T>C)
c.151+4265T>C
c.2177T>C (p.Leu726Pro)
c.1982T>C (p.Leu661Pro)
c.2150T>C (p.Leu717Pro)
 dbSNP gnomAD v4
16g.89284263A>TCA397162784ANKRD11c.2279T>A (p.Leu760Gln)
c.*2082T>A (n.*2082T>A)
c.1904T>A (p.Leu635Gln)
c.744+4265T>A (n.744+4265T>A)
c.151+4265T>A
c.2177T>A (p.Leu726Gln)
c.1982T>A (p.Leu661Gln)
c.2150T>A (p.Leu717Gln)
 gnomAD v4
16g.89284264G>ACA497375271ANKRD11c.2278C>T (p.Leu760=)
c.*2081C>T (n.*2081C>T)
c.1903C>T (p.Leu635=)
c.744+4264C>T (n.744+4264C>T)
n.4050C>T
c.151+4264C>T
c.2176C>T (p.Leu726=)
c.1981C>T (p.Leu661=)
c.2149C>T (p.Leu717=)
 gnomAD v4
16g.89284264G>CCA397162785ANKRD11c.2278C>G (p.Leu760Val)
c.*2081C>G (n.*2081C>G)
c.1903C>G (p.Leu635Val)
c.744+4264C>G (n.744+4264C>G)
n.4050C>G
c.151+4264C>G
c.2176C>G (p.Leu726Val)
c.1981C>G (p.Leu661Val)
c.2149C>G (p.Leu717Val)
16g.89284264G>TCA397162786ANKRD11c.2278C>A (p.Leu760Met)
c.*2081C>A (n.*2081C>A)
c.1903C>A (p.Leu635Met)
c.744+4264C>A (n.744+4264C>A)
n.4050C>A
c.151+4264C>A
c.2176C>A (p.Leu726Met)
c.1981C>A (p.Leu661Met)
c.2149C>A (p.Leu717Met)
16g.89284265T>ACA397162787ANKRD11c.2277A>T (p.Arg759Ser)
c.*2080A>T (n.*2080A>T)
c.1902A>T (p.Arg634Ser)
c.744+4263A>T (n.744+4263A>T)
n.4049A>T
c.151+4263A>T
c.2175A>T (p.Arg725Ser)
c.1980A>T (p.Arg660Ser)
c.2148A>T (p.Arg716Ser)
16g.89284265T>CCA497375272ANKRD11c.2277A>G (p.Arg759=)
c.*2080A>G (n.*2080A>G)
c.1902A>G (p.Arg634=)
c.744+4263A>G (n.744+4263A>G)
n.4049A>G
c.151+4263A>G
c.2175A>G (p.Arg725=)
c.1980A>G (p.Arg660=)
c.2148A>G (p.Arg716=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284265T>GCA397162788ANKRD11c.2277A>C (p.Arg759Ser)
c.*2080A>C (n.*2080A>C)
c.1902A>C (p.Arg634Ser)
c.744+4263A>C (n.744+4263A>C)
n.4049A>C
c.151+4263A>C
c.2175A>C (p.Arg725Ser)
c.1980A>C (p.Arg660Ser)
c.2148A>C (p.Arg716Ser)
16g.89284265T=CA2241602422ANKRD11c.2277A= (p.Arg759=)
c.*2080A= (n.*2080A=)
c.1902A= (p.Arg634=)
c.744+4263A= (n.744+4263A=)
n.4049A=
c.151+4263A=
c.2175A= (p.Arg725=)
c.1980A= (p.Arg660=)
c.2148A= (p.Arg716=)
16g.89284266C>ACA397162789ANKRD11c.2276G>T (p.Arg759Ile)
c.*2079G>T (n.*2079G>T)
c.1901G>T (p.Arg634Ile)
c.744+4262G>T (n.744+4262G>T)
n.4048G>T
c.151+4262G>T
c.2174G>T (p.Arg725Ile)
c.1979G>T (p.Arg660Ile)
c.2147G>T (p.Arg716Ile)
16g.89284266C>GCA397162790ANKRD11c.2276G>C (p.Arg759Thr)
c.*2079G>C (n.*2079G>C)
c.1901G>C (p.Arg634Thr)
c.744+4262G>C (n.744+4262G>C)
n.4048G>C
c.151+4262G>C
c.2174G>C (p.Arg725Thr)
c.1979G>C (p.Arg660Thr)
c.2147G>C (p.Arg716Thr)
16g.89284266C>TCA397162791ANKRD11c.2276G>A (p.Arg759Lys)
c.*2079G>A (n.*2079G>A)
c.1901G>A (p.Arg634Lys)
c.744+4262G>A (n.744+4262G>A)
n.4048G>A
c.151+4262G>A
c.2174G>A (p.Arg725Lys)
c.1979G>A (p.Arg660Lys)
c.2147G>A (p.Arg716Lys)
16g.89284267T>ACA397162792ANKRD11c.2275A>T (p.Arg759Ter)
c.*2078A>T (n.*2078A>T)
c.1900A>T (p.Arg634Ter)
c.744+4261A>T (n.744+4261A>T)
n.4047A>T
c.151+4261A>T
c.2173A>T (p.Arg725Ter)
c.1978A>T (p.Arg660Ter)
c.2146A>T (p.Arg716Ter)
16g.89284267T>CCA397162793ANKRD11c.2275A>G (p.Arg759Gly)
c.*2078A>G (n.*2078A>G)
c.1900A>G (p.Arg634Gly)
c.744+4261A>G (n.744+4261A>G)
n.4047A>G
c.151+4261A>G
c.2173A>G (p.Arg725Gly)
c.1978A>G (p.Arg660Gly)
c.2146A>G (p.Arg716Gly)
16g.89284267T>GCA497375273ANKRD11c.2275A>C (p.Arg759=)
c.*2078A>C (n.*2078A>C)
c.1900A>C (p.Arg634=)
c.744+4261A>C (n.744+4261A>C)
n.4047A>C
c.151+4261A>C
c.2173A>C (p.Arg725=)
c.1978A>C (p.Arg660=)
c.2146A>C (p.Arg716=)
16g.89284267_89284269delinsTCACA2241602424ANKRD11c.2273_2275delinsTGA (p.Leu758=)
c.*2076_*2078delinsTGA (n.*2076_*2078delinsTGA)
c.1898_1900delinsTGA (p.Leu633=)
c.744+4259_744+4261delinsTGA (n.744+4259_744+4261delinsTGA)
n.4045_4047delinsTGA
c.151+4259_151+4261delinsTGA
c.2171_2173delinsTGA (p.Leu724=)
c.1976_1978delinsTGA (p.Leu659=)
c.2144_2146delinsTGA (p.Leu715=)
16g.89284268C>ACA497375274ANKRD11c.2274G>T (p.Leu758=)
c.*2077G>T (n.*2077G>T)
c.1899G>T (p.Leu633=)
c.744+4260G>T (n.744+4260G>T)
n.4046G>T
c.151+4260G>T
c.2172G>T (p.Leu724=)
c.1977G>T (p.Leu659=)
c.2145G>T (p.Leu715=)
 COSMIC
16g.89284268C=CA2241602426ANKRD11c.2274G= (p.Leu758=)
c.*2077G= (n.*2077G=)
c.1899G= (p.Leu633=)
c.744+4260G= (n.744+4260G=)
n.4046G=
c.151+4260G=
c.2172G= (p.Leu724=)
c.1977G= (p.Leu659=)
c.2145G= (p.Leu715=)
16g.89284268C>GCA497375275ANKRD11c.2274G>C (p.Leu758=)
c.*2077G>C (n.*2077G>C)
c.1899G>C (p.Leu633=)
c.744+4260G>C (n.744+4260G>C)
n.4046G>C
c.151+4260G>C
c.2172G>C (p.Leu724=)
c.1977G>C (p.Leu659=)
c.2145G>C (p.Leu715=)
 dbSNP gnomAD v2 gnomAD v4
16g.89284268C>TCA497375276ANKRD11c.2274G>A (p.Leu758=)
c.*2077G>A (n.*2077G>A)
c.1899G>A (p.Leu633=)
c.744+4260G>A (n.744+4260G>A)
n.4046G>A
c.151+4260G>A
c.2172G>A (p.Leu724=)
c.1977G>A (p.Leu659=)
c.2145G>A (p.Leu715=)
16g.89284268_89284269delCA658790761ANKRD11c.2273_2274del (p.Leu758GlnfsTer23)
c.*2076_*2077del (n.*2076_*2077del)
c.1898_1899del (p.Leu633GlnfsTer23)
c.744+4259_744+4260del (n.744+4259_744+4260del)
n.4045_4046del
c.151+4259_151+4260del
c.2171_2172del (p.Leu724GlnfsTer23)
c.1976_1977del (p.Leu659GlnfsTer23)
c.2144_2145del (p.Leu715GlnfsTer23)
 ClinVar dbSNP
16g.89284269A=CA2241602429ANKRD11c.2273T= (p.Leu758=)
c.*2076T= (n.*2076T=)
c.1898T= (p.Leu633=)
c.744+4259T= (n.744+4259T=)
n.4045T=
c.151+4259T=
c.2171T= (p.Leu724=)
c.1976T= (p.Leu659=)
c.2144T= (p.Leu715=)
16g.89284269A>CCA397162796ANKRD11c.2273T>G (p.Leu758Arg)
c.*2076T>G (n.*2076T>G)
c.1898T>G (p.Leu633Arg)
c.744+4259T>G (n.744+4259T>G)
n.4045T>G
c.151+4259T>G
c.2171T>G (p.Leu724Arg)
c.1976T>G (p.Leu659Arg)
c.2144T>G (p.Leu715Arg)
16g.89284269A>GCA397162795ANKRD11c.2273T>C (p.Leu758Pro)
c.*2076T>C (n.*2076T>C)
c.1898T>C (p.Leu633Pro)
c.744+4259T>C (n.744+4259T>C)
n.4045T>C
c.151+4259T>C
c.2171T>C (p.Leu724Pro)
c.1976T>C (p.Leu659Pro)
c.2144T>C (p.Leu715Pro)
 dbSNP gnomAD v4
16g.89284269A>TCA397162794ANKRD11c.2273T>A (p.Leu758Gln)
c.*2076T>A (n.*2076T>A)
c.1898T>A (p.Leu633Gln)
c.744+4259T>A (n.744+4259T>A)
n.4045T>A
c.151+4259T>A
c.2171T>A (p.Leu724Gln)
c.1976T>A (p.Leu659Gln)
c.2144T>A (p.Leu715Gln)
 gnomAD v4
16g.89284269dupCA2580092309ANKRD11c.2273dup (p.Arg759GlufsTer23)
c.*2076dup (n.*2076dup)
c.1898dup (p.Arg634GlufsTer23)
c.744+4259dup (n.744+4259dup)
n.4045dup
c.151+4259dup
c.2171dup (p.Arg725GlufsTer23)
c.1976dup (p.Arg660GlufsTer23)
c.2144dup (p.Arg716GlufsTer23)
 ClinVar dbSNP
16g.89284270G>ACA497375277ANKRD11c.2272C>T (p.Leu758=)
c.*2075C>T (n.*2075C>T)
c.1897C>T (p.Leu633=)
c.744+4258C>T (n.744+4258C>T)
n.4044C>T
c.151+4258C>T
c.2170C>T (p.Leu724=)
c.1975C>T (p.Leu659=)
c.2143C>T (p.Leu715=)
 dbSNP gnomAD v2
16g.89284270G>CCA397162797ANKRD11c.2272C>G (p.Leu758Val)
c.*2075C>G (n.*2075C>G)
c.1897C>G (p.Leu633Val)
c.744+4258C>G (n.744+4258C>G)
n.4044C>G
c.151+4258C>G
c.2170C>G (p.Leu724Val)
c.1975C>G (p.Leu659Val)
c.2143C>G (p.Leu715Val)
 gnomAD v4
16g.89284270G=CA2241602431ANKRD11c.2272C= (p.Leu758=)
c.*2075C= (n.*2075C=)
c.1897C= (p.Leu633=)
c.744+4258C= (n.744+4258C=)
n.4044C=
c.151+4258C=
c.2170C= (p.Leu724=)
c.1975C= (p.Leu659=)
c.2143C= (p.Leu715=)
16g.89284270G>TCA397162798ANKRD11c.2272C>A (p.Leu758Met)
c.*2075C>A (n.*2075C>A)
c.1897C>A (p.Leu633Met)
c.744+4258C>A (n.744+4258C>A)
n.4044C>A
c.151+4258C>A
c.2170C>A (p.Leu724Met)
c.1975C>A (p.Leu659Met)
c.2143C>A (p.Leu715Met)
16g.89284271T>ACA397162799ANKRD11c.2271A>T (p.Lys757Asn)
c.*2074A>T (n.*2074A>T)
c.1896A>T (p.Lys632Asn)
c.744+4257A>T (n.744+4257A>T)
n.4043A>T
c.151+4257A>T
c.2169A>T (p.Lys723Asn)
c.1974A>T (p.Lys658Asn)
c.2142A>T (p.Lys714Asn)
16g.89284271T>CCA497375278ANKRD11c.2271A>G (p.Lys757=)
c.*2074A>G (n.*2074A>G)
c.1896A>G (p.Lys632=)
c.744+4257A>G (n.744+4257A>G)
n.4043A>G
c.151+4257A>G
c.2169A>G (p.Lys723=)
c.1974A>G (p.Lys658=)
c.2142A>G (p.Lys714=)
 COSMIC
16g.89284271T>GCA397162800ANKRD11c.2271A>C (p.Lys757Asn)
c.*2074A>C (n.*2074A>C)
c.1896A>C (p.Lys632Asn)
c.744+4257A>C (n.744+4257A>C)
n.4043A>C
c.151+4257A>C
c.2169A>C (p.Lys723Asn)
c.1974A>C (p.Lys658Asn)
c.2142A>C (p.Lys714Asn)
16g.89284272T>ACA397162801ANKRD11c.2270A>T (p.Lys757Ile)
c.*2073A>T (n.*2073A>T)
c.1895A>T (p.Lys632Ile)
c.744+4256A>T (n.744+4256A>T)
n.4042A>T
c.151+4256A>T
c.2168A>T (p.Lys723Ile)
c.1973A>T (p.Lys658Ile)
c.2141A>T (p.Lys714Ile)
16g.89284272T>CCA397162802ANKRD11c.2270A>G (p.Lys757Arg)
c.*2073A>G (n.*2073A>G)
c.1895A>G (p.Lys632Arg)
c.744+4256A>G (n.744+4256A>G)
n.4042A>G
c.151+4256A>G
c.2168A>G (p.Lys723Arg)
c.1973A>G (p.Lys658Arg)
c.2141A>G (p.Lys714Arg)
16g.89284272T>GCA397162803ANKRD11c.2270A>C (p.Lys757Thr)
c.*2073A>C (n.*2073A>C)
c.1895A>C (p.Lys632Thr)
c.744+4256A>C (n.744+4256A>C)
n.4042A>C
c.151+4256A>C
c.2168A>C (p.Lys723Thr)
c.1973A>C (p.Lys658Thr)
c.2141A>C (p.Lys714Thr)
16g.89284273T>ACA397162804ANKRD11c.2269A>T (p.Lys757Ter)
c.*2072A>T (n.*2072A>T)
c.1894A>T (p.Lys632Ter)
c.744+4255A>T (n.744+4255A>T)
n.4041A>T
c.151+4255A>T
c.2167A>T (p.Lys723Ter)
c.1972A>T (p.Lys658Ter)
c.2140A>T (p.Lys714Ter)
16g.89284273T>CCA397162805ANKRD11c.2269A>G (p.Lys757Glu)
c.*2072A>G (n.*2072A>G)
c.1894A>G (p.Lys632Glu)
c.744+4255A>G (n.744+4255A>G)
n.4041A>G
c.151+4255A>G
c.2167A>G (p.Lys723Glu)
c.1972A>G (p.Lys658Glu)
c.2140A>G (p.Lys714Glu)
16g.89284273T>GCA397162806ANKRD11c.2269A>C (p.Lys757Gln)
c.*2072A>C (n.*2072A>C)
c.1894A>C (p.Lys632Gln)
c.744+4255A>C (n.744+4255A>C)
n.4041A>C
c.151+4255A>C
c.2167A>C (p.Lys723Gln)
c.1972A>C (p.Lys658Gln)
c.2140A>C (p.Lys714Gln)
 dbSNP
16g.89284273T=CA2241602432ANKRD11c.2269A= (p.Lys757=)
c.*2072A= (n.*2072A=)
c.1894A= (p.Lys632=)
c.744+4255A= (n.744+4255A=)
n.4041A=
c.151+4255A=
c.2167A= (p.Lys723=)
c.1972A= (p.Lys658=)
c.2140A= (p.Lys714=)
16g.89284274T>ACA397162807ANKRD11c.2268A>T (p.Glu756Asp)
c.*2071A>T (n.*2071A>T)
c.1893A>T (p.Glu631Asp)
c.744+4254A>T (n.744+4254A>T)
n.4040A>T
c.151+4254A>T
c.2166A>T (p.Glu722Asp)
c.1971A>T (p.Glu657Asp)
c.2139A>T (p.Glu713Asp)
16g.89284274T>CCA497375280ANKRD11c.2268A>G (p.Glu756=)
c.*2071A>G (n.*2071A>G)
c.1893A>G (p.Glu631=)
c.744+4254A>G (n.744+4254A>G)
n.4040A>G
c.151+4254A>G
c.2166A>G (p.Glu722=)
c.1971A>G (p.Glu657=)
c.2139A>G (p.Glu713=)
16g.89284274T>GCA397162808ANKRD11c.2268A>C (p.Glu756Asp)
c.*2071A>C (n.*2071A>C)
c.1893A>C (p.Glu631Asp)
c.744+4254A>C (n.744+4254A>C)
n.4040A>C
c.151+4254A>C
c.2166A>C (p.Glu722Asp)
c.1971A>C (p.Glu657Asp)
c.2139A>C (p.Glu713Asp)
16g.89284279_89284281delCA497375279ANKRD11c.2266_2268del (p.Glu756del)
c.*2069_*2071del (n.*2069_*2071del)
c.1891_1893del (p.Glu631del)
c.744+4252_744+4254del (n.744+4252_744+4254del)
n.4038_4040del
c.151+4252_151+4254del
c.2164_2166del (p.Glu722del)
c.1969_1971del (p.Glu657del)
c.2137_2139del (p.Glu713del)
 ClinVar gnomAD v4
16g.89284275T>ACA397162809ANKRD11c.2267A>T (p.Glu756Val)
c.*2070A>T (n.*2070A>T)
c.1892A>T (p.Glu631Val)
c.744+4253A>T (n.744+4253A>T)
n.4039A>T
c.151+4253A>T
c.2165A>T (p.Glu722Val)
c.1970A>T (p.Glu657Val)
c.2138A>T (p.Glu713Val)
16g.89284275T>CCA397162810ANKRD11c.2267A>G (p.Glu756Gly)
c.*2070A>G (n.*2070A>G)
c.1892A>G (p.Glu631Gly)
c.744+4253A>G (n.744+4253A>G)
n.4039A>G
c.151+4253A>G
c.2165A>G (p.Glu722Gly)
c.1970A>G (p.Glu657Gly)
c.2138A>G (p.Glu713Gly)
16g.89284275T>GCA397162811ANKRD11c.2267A>C (p.Glu756Ala)
c.*2070A>C (n.*2070A>C)
c.1892A>C (p.Glu631Ala)
c.744+4253A>C (n.744+4253A>C)
n.4039A>C
c.151+4253A>C
c.2165A>C (p.Glu722Ala)
c.1970A>C (p.Glu657Ala)
c.2138A>C (p.Glu713Ala)
 dbSNP gnomAD v2 gnomAD v4
16g.89284275T=CA2241602434ANKRD11c.2267A= (p.Glu756=)
c.*2070A= (n.*2070A=)
c.1892A= (p.Glu631=)
c.744+4253A= (n.744+4253A=)
n.4039A=
c.151+4253A=
c.2165A= (p.Glu722=)
c.1970A= (p.Glu657=)
c.2138A= (p.Glu713=)
16g.89284276C>ACA397162812ANKRD11c.2266G>T (p.Glu756Ter)
c.*2069G>T (n.*2069G>T)
c.1891G>T (p.Glu631Ter)
c.744+4252G>T (n.744+4252G>T)
n.4038G>T
c.151+4252G>T
c.2164G>T (p.Glu722Ter)
c.1969G>T (p.Glu657Ter)
c.2137G>T (p.Glu713Ter)
16g.89284276C>GCA397162813ANKRD11c.2266G>C (p.Glu756Gln)
c.*2069G>C (n.*2069G>C)
c.1891G>C (p.Glu631Gln)
c.744+4252G>C (n.744+4252G>C)
n.4038G>C
c.151+4252G>C
c.2164G>C (p.Glu722Gln)
c.1969G>C (p.Glu657Gln)
c.2137G>C (p.Glu713Gln)
16g.89284276C>TCA397162814ANKRD11c.2266G>A (p.Glu756Lys)
c.*2069G>A (n.*2069G>A)
c.1891G>A (p.Glu631Lys)
c.744+4252G>A (n.744+4252G>A)
n.4038G>A
c.151+4252G>A
c.2164G>A (p.Glu722Lys)
c.1969G>A (p.Glu657Lys)
c.2137G>A (p.Glu713Lys)
16g.89284276_89284280delinsCTTCTCA2241602436ANKRD11c.2262_2266delinsAGAAG (p.Lys754=)
c.*2065_*2069delinsAGAAG (n.*2065_*2069delinsAGAAG)
c.1887_1891delinsAGAAG (p.Lys629=)
c.744+4248_744+4252delinsAGAAG (n.744+4248_744+4252delinsAGAAG)
n.4034_4038delinsAGAAG
c.151+4248_151+4252delinsAGAAG
c.2160_2164delinsAGAAG (p.Lys720=)
c.1965_1969delinsAGAAG (p.Lys655=)
c.2133_2137delinsAGAAG (p.Lys711=)
16g.89284277T>ACA397162815ANKRD11c.2265A>T (p.Glu755Asp)
c.*2068A>T (n.*2068A>T)
c.1890A>T (p.Glu630Asp)
c.744+4251A>T (n.744+4251A>T)
n.4037A>T
c.151+4251A>T
c.2163A>T (p.Glu721Asp)
c.1968A>T (p.Glu656Asp)
c.2136A>T (p.Glu712Asp)
16g.89284277T>CCA497375281ANKRD11c.2265A>G (p.Glu755=)
c.*2068A>G (n.*2068A>G)
c.1890A>G (p.Glu630=)
c.744+4251A>G (n.744+4251A>G)
n.4037A>G
c.151+4251A>G
c.2163A>G (p.Glu721=)
c.1968A>G (p.Glu656=)
c.2136A>G (p.Glu712=)
 gnomAD v4
16g.89284277T>GCA397162816ANKRD11c.2265A>C (p.Glu755Asp)
c.*2068A>C (n.*2068A>C)
c.1890A>C (p.Glu630Asp)
c.744+4251A>C (n.744+4251A>C)
n.4037A>C
c.151+4251A>C
c.2163A>C (p.Glu721Asp)
c.1968A>C (p.Glu656Asp)
c.2136A>C (p.Glu712Asp)
16g.89284280_89284283delCA1139664889ANKRD11c.2262_2265del (p.Glu755LysfsTer3)
c.*2065_*2068del (n.*2065_*2068del)
c.1887_1890del (p.Glu630LysfsTer3)
c.744+4248_744+4251del (n.744+4248_744+4251del)
n.4034_4037del
c.151+4248_151+4251del
c.2160_2163del (p.Glu721LysfsTer3)
c.1965_1968del (p.Glu656LysfsTer3)
c.2133_2136del (p.Glu712LysfsTer3)
 ClinVar dbSNP
16g.89284278T>ACA397162817ANKRD11c.2264A>T (p.Glu755Val)
c.*2067A>T (n.*2067A>T)
c.1889A>T (p.Glu630Val)
c.744+4250A>T (n.744+4250A>T)
n.4036A>T
c.151+4250A>T
c.2162A>T (p.Glu721Val)
c.1967A>T (p.Glu656Val)
c.2135A>T (p.Glu712Val)
16g.89284278T>CCA397162818ANKRD11c.2264A>G (p.Glu755Gly)
c.*2067A>G (n.*2067A>G)
c.1889A>G (p.Glu630Gly)
c.744+4250A>G (n.744+4250A>G)
n.4036A>G
c.151+4250A>G
c.2162A>G (p.Glu721Gly)
c.1967A>G (p.Glu656Gly)
c.2135A>G (p.Glu712Gly)
16g.89284278T>GCA397162819ANKRD11c.2264A>C (p.Glu755Ala)
c.*2067A>C (n.*2067A>C)
c.1889A>C (p.Glu630Ala)
c.744+4250A>C (n.744+4250A>C)
n.4036A>C
c.151+4250A>C
c.2162A>C (p.Glu721Ala)
c.1967A>C (p.Glu656Ala)
c.2135A>C (p.Glu712Ala)
 gnomAD v4
16g.89284279C>ACA397162820ANKRD11c.2263G>T (p.Glu755Ter)
c.*2066G>T (n.*2066G>T)
c.1888G>T (p.Glu630Ter)
c.744+4249G>T (n.744+4249G>T)
n.4035G>T
c.151+4249G>T
c.2161G>T (p.Glu721Ter)
c.1966G>T (p.Glu656Ter)
c.2134G>T (p.Glu712Ter)
16g.89284279C=CA2241602438ANKRD11c.2263G= (p.Glu755=)
c.*2066G= (n.*2066G=)
c.1888G= (p.Glu630=)
c.744+4249G= (n.744+4249G=)
n.4035G=
c.151+4249G=
c.2161G= (p.Glu721=)
c.1966G= (p.Glu656=)
c.2134G= (p.Glu712=)
16g.89284279C>GCA397162821ANKRD11c.2263G>C (p.Glu755Gln)
c.*2066G>C (n.*2066G>C)
c.1888G>C (p.Glu630Gln)
c.744+4249G>C (n.744+4249G>C)
n.4035G>C
c.151+4249G>C
c.2161G>C (p.Glu721Gln)
c.1966G>C (p.Glu656Gln)
c.2134G>C (p.Glu712Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.89284279C>TCA397162822ANKRD11c.2263G>A (p.Glu755Lys)
c.*2066G>A (n.*2066G>A)
c.1888G>A (p.Glu630Lys)
c.744+4249G>A (n.744+4249G>A)
n.4035G>A
c.151+4249G>A
c.2161G>A (p.Glu721Lys)
c.1966G>A (p.Glu656Lys)
c.2134G>A (p.Glu712Lys)
 gnomAD v4
16g.89284280T>ACA397162823ANKRD11c.2262A>T (p.Lys754Asn)
c.*2065A>T (n.*2065A>T)
c.1887A>T (p.Lys629Asn)
c.744+4248A>T (n.744+4248A>T)
n.4034A>T
c.151+4248A>T
c.2160A>T (p.Lys720Asn)
c.1965A>T (p.Lys655Asn)
c.2133A>T (p.Lys711Asn)
16g.89284280T>CCA497375282ANKRD11c.2262A>G (p.Lys754=)
c.*2065A>G (n.*2065A>G)
c.1887A>G (p.Lys629=)
c.744+4248A>G (n.744+4248A>G)
n.4034A>G
c.151+4248A>G
c.2160A>G (p.Lys720=)
c.1965A>G (p.Lys655=)
c.2133A>G (p.Lys711=)
 gnomAD v4
16g.89284280T>GCA397162824ANKRD11c.2262A>C (p.Lys754Asn)
c.*2065A>C (n.*2065A>C)
c.1887A>C (p.Lys629Asn)
c.744+4248A>C (n.744+4248A>C)
n.4034A>C
c.151+4248A>C
c.2160A>C (p.Lys720Asn)
c.1965A>C (p.Lys655Asn)
c.2133A>C (p.Lys711Asn)
16g.89284282dupCA2695223983ANKRD11c.2262dup (p.Glu755ArgfsTer27)
c.*2065dup (n.*2065dup)
c.1887dup (p.Glu630ArgfsTer27)
c.744+4248dup (n.744+4248dup)
n.4034dup
c.151+4248dup
c.2160dup (p.Glu721ArgfsTer27)
c.1965dup (p.Glu656ArgfsTer27)
c.2133dup (p.Glu712ArgfsTer27)
16g.89284281T>ACA397162825ANKRD11c.2261A>T (p.Lys754Ile)
c.*2064A>T (n.*2064A>T)
c.1886A>T (p.Lys629Ile)
c.744+4247A>T (n.744+4247A>T)
n.4033A>T
c.151+4247A>T
c.2159A>T (p.Lys720Ile)
c.1964A>T (p.Lys655Ile)
c.2132A>T (p.Lys711Ile)
16g.89284281T>CCA397162826ANKRD11c.2261A>G (p.Lys754Arg)
c.*2064A>G (n.*2064A>G)
c.1886A>G (p.Lys629Arg)
c.744+4247A>G (n.744+4247A>G)
n.4033A>G
c.151+4247A>G
c.2159A>G (p.Lys720Arg)
c.1964A>G (p.Lys655Arg)
c.2132A>G (p.Lys711Arg)
 ClinVar dbSNP gnomAD v4
16g.89284281T>GCA397162827ANKRD11c.2261A>C (p.Lys754Thr)
c.*2064A>C (n.*2064A>C)
c.1886A>C (p.Lys629Thr)
c.744+4247A>C (n.744+4247A>C)
n.4033A>C
c.151+4247A>C
c.2159A>C (p.Lys720Thr)
c.1964A>C (p.Lys655Thr)
c.2132A>C (p.Lys711Thr)
16g.89284282T>ACA397162830ANKRD11c.2260A>T (p.Lys754Ter)
c.*2063A>T (n.*2063A>T)
c.1885A>T (p.Lys629Ter)
c.744+4246A>T (n.744+4246A>T)
n.4032A>T
c.151+4246A>T
c.2158A>T (p.Lys720Ter)
c.1963A>T (p.Lys655Ter)
c.2131A>T (p.Lys711Ter)
16g.89284282T>CCA397162829ANKRD11c.2260A>G (p.Lys754Glu)
c.*2063A>G (n.*2063A>G)
c.1885A>G (p.Lys629Glu)
c.744+4246A>G (n.744+4246A>G)
n.4032A>G
c.151+4246A>G
c.2158A>G (p.Lys720Glu)
c.1963A>G (p.Lys655Glu)
c.2131A>G (p.Lys711Glu)
16g.89284282T>GCA397162828ANKRD11c.2260A>C (p.Lys754Gln)
c.*2063A>C (n.*2063A>C)
c.1885A>C (p.Lys629Gln)
c.744+4246A>C (n.744+4246A>C)
n.4032A>C
c.151+4246A>C
c.2158A>C (p.Lys720Gln)
c.1963A>C (p.Lys655Gln)
c.2131A>C (p.Lys711Gln)
16g.89284283C>ACA497375283ANKRD11c.2259G>T (p.Pro753=)
c.*2062G>T (n.*2062G>T)
c.1884G>T (p.Pro628=)
c.744+4245G>T (n.744+4245G>T)
n.4031G>T
c.151+4245G>T
c.2157G>T (p.Pro719=)
c.1962G>T (p.Pro654=)
c.2130G>T (p.Pro710=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284283C=CA2241602440ANKRD11c.2259G= (p.Pro753=)
c.*2062G= (n.*2062G=)
c.1884G= (p.Pro628=)
c.744+4245G= (n.744+4245G=)
n.4031G=
c.151+4245G=
c.2157G= (p.Pro719=)
c.1962G= (p.Pro654=)
c.2130G= (p.Pro710=)
16g.89284283C>GCA497375284ANKRD11c.2259G>C (p.Pro753=)
c.*2062G>C (n.*2062G>C)
c.1884G>C (p.Pro628=)
c.744+4245G>C (n.744+4245G>C)
n.4031G>C
c.151+4245G>C
c.2157G>C (p.Pro719=)
c.1962G>C (p.Pro654=)
c.2130G>C (p.Pro710=)
16g.89284283C>TCA8242607ANKRD11c.2259G>A (p.Pro753=)
c.*2062G>A (n.*2062G>A)
c.1884G>A (p.Pro628=)
c.744+4245G>A (n.744+4245G>A)
n.4031G>A
c.151+4245G>A
c.2157G>A (p.Pro719=)
c.1962G>A (p.Pro654=)
c.2130G>A (p.Pro710=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284284G>ACA8242608ANKRD11c.2258C>T (p.Pro753Leu)
c.*2061C>T (n.*2061C>T)
c.1883C>T (p.Pro628Leu)
c.744+4244C>T (n.744+4244C>T)
n.4030C>T
c.151+4244C>T
c.2156C>T (p.Pro719Leu)
c.1961C>T (p.Pro654Leu)
c.2129C>T (p.Pro710Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284284G>CCA397162831ANKRD11c.2258C>G (p.Pro753Arg)
c.*2061C>G (n.*2061C>G)
c.1883C>G (p.Pro628Arg)
c.744+4244C>G (n.744+4244C>G)
n.4030C>G
c.151+4244C>G
c.2156C>G (p.Pro719Arg)
c.1961C>G (p.Pro654Arg)
c.2129C>G (p.Pro710Arg)
16g.89284284G=CA2241602442ANKRD11c.2258C= (p.Pro753=)
c.*2061C= (n.*2061C=)
c.1883C= (p.Pro628=)
c.744+4244C= (n.744+4244C=)
n.4030C=
c.151+4244C=
c.2156C= (p.Pro719=)
c.1961C= (p.Pro654=)
c.2129C= (p.Pro710=)
16g.89284284G>TCA397162832ANKRD11c.2258C>A (p.Pro753Gln)
c.*2061C>A (n.*2061C>A)
c.1883C>A (p.Pro628Gln)
c.744+4244C>A (n.744+4244C>A)
n.4030C>A
c.151+4244C>A
c.2156C>A (p.Pro719Gln)
c.1961C>A (p.Pro654Gln)
c.2129C>A (p.Pro710Gln)
16g.89284285G>ACA397162833ANKRD11c.2257C>T (p.Pro753Ser)
c.*2060C>T (n.*2060C>T)
c.1882C>T (p.Pro628Ser)
c.744+4243C>T (n.744+4243C>T)
n.4029C>T
c.151+4243C>T
c.2155C>T (p.Pro719Ser)
c.1960C>T (p.Pro654Ser)
c.2128C>T (p.Pro710Ser)
16g.89284285G>CCA397162834ANKRD11c.2257C>G (p.Pro753Ala)
c.*2060C>G (n.*2060C>G)
c.1882C>G (p.Pro628Ala)
c.744+4243C>G (n.744+4243C>G)
n.4029C>G
c.151+4243C>G
c.2155C>G (p.Pro719Ala)
c.1960C>G (p.Pro654Ala)
c.2128C>G (p.Pro710Ala)
 gnomAD v4
16g.89284285G>TCA397162835ANKRD11c.2257C>A (p.Pro753Thr)
c.*2060C>A (n.*2060C>A)
c.1882C>A (p.Pro628Thr)
c.744+4243C>A (n.744+4243C>A)
n.4029C>A
c.151+4243C>A
c.2155C>A (p.Pro719Thr)
c.1960C>A (p.Pro654Thr)
c.2128C>A (p.Pro710Thr)
 ClinVar
16g.89284287_89284288delCA2739290880ANKRD11c.2256_2257del (p.Pro753GlufsTer28)
c.*2059_*2060del (n.*2059_*2060del)
c.1881_1882del (p.Pro628GlufsTer28)
c.744+4242_744+4243del (n.744+4242_744+4243del)
n.4028_4029del
c.151+4242_151+4243del
c.2154_2155del (p.Pro719GlufsTer28)
c.1959_1960del (p.Pro654GlufsTer28)
c.2127_2128del (p.Pro710GlufsTer28)
16g.89284286A=CA2241602444ANKRD11c.2256T= (p.Ser752=)
c.*2059T= (n.*2059T=)
c.1881T= (p.Ser627=)
c.744+4242T= (n.744+4242T=)
n.4028T=
c.151+4242T=
c.2154T= (p.Ser718=)
c.1959T= (p.Ser653=)
c.2127T= (p.Ser709=)
16g.89284286A>CCA497375285ANKRD11c.2256T>G (p.Ser752=)
c.*2059T>G (n.*2059T>G)
c.1881T>G (p.Ser627=)
c.744+4242T>G (n.744+4242T>G)
n.4028T>G
c.151+4242T>G
c.2154T>G (p.Ser718=)
c.1959T>G (p.Ser653=)
c.2127T>G (p.Ser709=)
16g.89284286A>GCA8242609ANKRD11c.2256T>C (p.Ser752=)
c.*2059T>C (n.*2059T>C)
c.1881T>C (p.Ser627=)
c.744+4242T>C (n.744+4242T>C)
n.4028T>C
c.151+4242T>C
c.2154T>C (p.Ser718=)
c.1959T>C (p.Ser653=)
c.2127T>C (p.Ser709=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284286A>TCA497375286ANKRD11c.2256T>A (p.Ser752=)
c.*2059T>A (n.*2059T>A)
c.1881T>A (p.Ser627=)
c.744+4242T>A (n.744+4242T>A)
n.4028T>A
c.151+4242T>A
c.2154T>A (p.Ser718=)
c.1959T>A (p.Ser653=)
c.2127T>A (p.Ser709=)
16g.89284287G>ACA397162836ANKRD11c.2255C>T (p.Ser752Phe)
c.*2058C>T (n.*2058C>T)
c.1880C>T (p.Ser627Phe)
c.744+4241C>T (n.744+4241C>T)
n.4027C>T
c.151+4241C>T
c.2153C>T (p.Ser718Phe)
c.1958C>T (p.Ser653Phe)
c.2126C>T (p.Ser709Phe)
16g.89284287G>CCA397162837ANKRD11c.2255C>G (p.Ser752Cys)
c.*2058C>G (n.*2058C>G)
c.1880C>G (p.Ser627Cys)
c.744+4241C>G (n.744+4241C>G)
n.4027C>G
c.151+4241C>G
c.2153C>G (p.Ser718Cys)
c.1958C>G (p.Ser653Cys)
c.2126C>G (p.Ser709Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89284287G=CA2241602446ANKRD11c.2255C= (p.Ser752=)
c.*2058C= (n.*2058C=)
c.1880C= (p.Ser627=)
c.744+4241C= (n.744+4241C=)
n.4027C=
c.151+4241C=
c.2153C= (p.Ser718=)
c.1958C= (p.Ser653=)
c.2126C= (p.Ser709=)
16g.89284287G>TCA397162838ANKRD11c.2255C>A (p.Ser752Tyr)
c.*2058C>A (n.*2058C>A)
c.1880C>A (p.Ser627Tyr)
c.744+4241C>A (n.744+4241C>A)
n.4027C>A
c.151+4241C>A
c.2153C>A (p.Ser718Tyr)
c.1958C>A (p.Ser653Tyr)
c.2126C>A (p.Ser709Tyr)
16g.89284288A=CA2241602447ANKRD11c.2254T= (p.Ser752=)
c.*2057T= (n.*2057T=)
c.1879T= (p.Ser627=)
c.744+4240T= (n.744+4240T=)
n.4026T=
c.151+4240T=
c.2152T= (p.Ser718=)
c.1957T= (p.Ser653=)
c.2125T= (p.Ser709=)
16g.89284288A>CCA397162839ANKRD11c.2254T>G (p.Ser752Ala)
c.*2057T>G (n.*2057T>G)
c.1879T>G (p.Ser627Ala)
c.744+4240T>G (n.744+4240T>G)
n.4026T>G
c.151+4240T>G
c.2152T>G (p.Ser718Ala)
c.1957T>G (p.Ser653Ala)
c.2125T>G (p.Ser709Ala)
 dbSNP gnomAD v4
16g.89284288A>GCA397162840ANKRD11c.2254T>C (p.Ser752Pro)
c.*2057T>C (n.*2057T>C)
c.1879T>C (p.Ser627Pro)
c.744+4240T>C (n.744+4240T>C)
n.4026T>C
c.151+4240T>C
c.2152T>C (p.Ser718Pro)
c.1957T>C (p.Ser653Pro)
c.2125T>C (p.Ser709Pro)
 gnomAD v4
16g.89284288A>TCA397162841ANKRD11c.2254T>A (p.Ser752Thr)
c.*2057T>A (n.*2057T>A)
c.1879T>A (p.Ser627Thr)
c.744+4240T>A (n.744+4240T>A)
n.4026T>A
c.151+4240T>A
c.2152T>A (p.Ser718Thr)
c.1957T>A (p.Ser653Thr)
c.2125T>A (p.Ser709Thr)
16g.89284289C>ACA397162842ANKRD11c.2253G>T (p.Lys751Asn)
c.*2056G>T (n.*2056G>T)
c.1878G>T (p.Lys626Asn)
c.744+4239G>T (n.744+4239G>T)
n.4025G>T
c.151+4239G>T
c.2151G>T (p.Lys717Asn)
c.1956G>T (p.Lys652Asn)
c.2124G>T (p.Lys708Asn)
16g.89284289C>GCA397162843ANKRD11c.2253G>C (p.Lys751Asn)
c.*2056G>C (n.*2056G>C)
c.1878G>C (p.Lys626Asn)
c.744+4239G>C (n.744+4239G>C)
n.4025G>C
c.151+4239G>C
c.2151G>C (p.Lys717Asn)
c.1956G>C (p.Lys652Asn)
c.2124G>C (p.Lys708Asn)
16g.89284289C>TCA497375287ANKRD11c.2253G>A (p.Lys751=)
c.*2056G>A (n.*2056G>A)
c.1878G>A (p.Lys626=)
c.744+4239G>A (n.744+4239G>A)
n.4025G>A
c.151+4239G>A
c.2151G>A (p.Lys717=)
c.1956G>A (p.Lys652=)
c.2124G>A (p.Lys708=)
16g.89284290T>ACA397162844ANKRD11c.2252A>T (p.Lys751Met)
c.*2055A>T (n.*2055A>T)
c.1877A>T (p.Lys626Met)
c.744+4238A>T (n.744+4238A>T)
n.4024A>T
c.151+4238A>T
c.2150A>T (p.Lys717Met)
c.1955A>T (p.Lys652Met)
c.2123A>T (p.Lys708Met)
 gnomAD v4
16g.89284290T>CCA397162845ANKRD11c.2252A>G (p.Lys751Arg)
c.*2055A>G (n.*2055A>G)
c.1877A>G (p.Lys626Arg)
c.744+4238A>G (n.744+4238A>G)
n.4024A>G
c.151+4238A>G
c.2150A>G (p.Lys717Arg)
c.1955A>G (p.Lys652Arg)
c.2123A>G (p.Lys708Arg)
 dbSNP gnomAD v4
16g.89284290T>GCA397162846ANKRD11c.2252A>C (p.Lys751Thr)
c.*2055A>C (n.*2055A>C)
c.1877A>C (p.Lys626Thr)
c.744+4238A>C (n.744+4238A>C)
n.4024A>C
c.151+4238A>C
c.2150A>C (p.Lys717Thr)
c.1955A>C (p.Lys652Thr)
c.2123A>C (p.Lys708Thr)
16g.89284290T=CA2241602449ANKRD11c.2252A= (p.Lys751=)
c.*2055A= (n.*2055A=)
c.1877A= (p.Lys626=)
c.744+4238A= (n.744+4238A=)
n.4024A=
c.151+4238A=
c.2150A= (p.Lys717=)
c.1955A= (p.Lys652=)
c.2123A= (p.Lys708=)
16g.89284291T>ACA397162847ANKRD11c.2251A>T (p.Lys751Ter)
c.*2054A>T (n.*2054A>T)
c.1876A>T (p.Lys626Ter)
c.744+4237A>T (n.744+4237A>T)
n.4023A>T
c.151+4237A>T
c.2149A>T (p.Lys717Ter)
c.1954A>T (p.Lys652Ter)
c.2122A>T (p.Lys708Ter)
16g.89284291T>CCA8242610ANKRD11c.2251A>G (p.Lys751Glu)
c.*2054A>G (n.*2054A>G)
c.1876A>G (p.Lys626Glu)
c.744+4237A>G (n.744+4237A>G)
n.4023A>G
c.151+4237A>G
c.2149A>G (p.Lys717Glu)
c.1954A>G (p.Lys652Glu)
c.2122A>G (p.Lys708Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284291T>GCA397162848ANKRD11c.2251A>C (p.Lys751Gln)
c.*2054A>C (n.*2054A>C)
c.1876A>C (p.Lys626Gln)
c.744+4237A>C (n.744+4237A>C)
n.4023A>C
c.151+4237A>C
c.2149A>C (p.Lys717Gln)
c.1954A>C (p.Lys652Gln)
c.2122A>C (p.Lys708Gln)
16g.89284291T=CA2241602451ANKRD11c.2251A= (p.Lys751=)
c.*2054A= (n.*2054A=)
c.1876A= (p.Lys626=)
c.744+4237A= (n.744+4237A=)
n.4023A=
c.151+4237A=
c.2149A= (p.Lys717=)
c.1954A= (p.Lys652=)
c.2122A= (p.Lys708=)
16g.89284292T>ACA397162849ANKRD11c.2250A>T (p.Glu750Asp)
c.*2053A>T (n.*2053A>T)
c.1875A>T (p.Glu625Asp)
c.744+4236A>T (n.744+4236A>T)
n.4022A>T
c.151+4236A>T
c.2148A>T (p.Glu716Asp)
c.1953A>T (p.Glu651Asp)
c.2121A>T (p.Glu707Asp)
16g.89284292T>CCA497375288ANKRD11c.2250A>G (p.Glu750=)
c.*2053A>G (n.*2053A>G)
c.1875A>G (p.Glu625=)
c.744+4236A>G (n.744+4236A>G)
n.4022A>G
c.151+4236A>G
c.2148A>G (p.Glu716=)
c.1953A>G (p.Glu651=)
c.2121A>G (p.Glu707=)
 dbSNP gnomAD v2
16g.89284292T>GCA397162850ANKRD11c.2250A>C (p.Glu750Asp)
c.*2053A>C (n.*2053A>C)
c.1875A>C (p.Glu625Asp)
c.744+4236A>C (n.744+4236A>C)
n.4022A>C
c.151+4236A>C
c.2148A>C (p.Glu716Asp)
c.1953A>C (p.Glu651Asp)
c.2121A>C (p.Glu707Asp)
16g.89284292T=CA2241602452ANKRD11c.2250A= (p.Glu750=)
c.*2053A= (n.*2053A=)
c.1875A= (p.Glu625=)
c.744+4236A= (n.744+4236A=)
n.4022A=
c.151+4236A=
c.2148A= (p.Glu716=)
c.1953A= (p.Glu651=)
c.2121A= (p.Glu707=)
16g.89284293T>ACA397162851ANKRD11c.2249A>T (p.Glu750Val)
c.*2052A>T (n.*2052A>T)
c.1874A>T (p.Glu625Val)
c.744+4235A>T (n.744+4235A>T)
n.4021A>T
c.151+4235A>T
c.2147A>T (p.Glu716Val)
c.1952A>T (p.Glu651Val)
c.2120A>T (p.Glu707Val)
16g.89284293T>CCA397162852ANKRD11c.2249A>G (p.Glu750Gly)
c.*2052A>G (n.*2052A>G)
c.1874A>G (p.Glu625Gly)
c.744+4235A>G (n.744+4235A>G)
n.4021A>G
c.151+4235A>G
c.2147A>G (p.Glu716Gly)
c.1952A>G (p.Glu651Gly)
c.2120A>G (p.Glu707Gly)
16g.89284293T>GCA397162853ANKRD11c.2249A>C (p.Glu750Ala)
c.*2052A>C (n.*2052A>C)
c.1874A>C (p.Glu625Ala)
c.744+4235A>C (n.744+4235A>C)
n.4021A>C
c.151+4235A>C
c.2147A>C (p.Glu716Ala)
c.1952A>C (p.Glu651Ala)
c.2120A>C (p.Glu707Ala)
16g.89284294C>ACA397162856ANKRD11c.2248G>T (p.Glu750Ter)
c.*2051G>T (n.*2051G>T)
c.1873G>T (p.Glu625Ter)
c.744+4234G>T (n.744+4234G>T)
n.4020G>T
c.151+4234G>T
c.2146G>T (p.Glu716Ter)
c.1951G>T (p.Glu651Ter)
c.2119G>T (p.Glu707Ter)
16g.89284294C>GCA397162855ANKRD11c.2248G>C (p.Glu750Gln)
c.*2051G>C (n.*2051G>C)
c.1873G>C (p.Glu625Gln)
c.744+4234G>C (n.744+4234G>C)
n.4020G>C
c.151+4234G>C
c.2146G>C (p.Glu716Gln)
c.1951G>C (p.Glu651Gln)
c.2119G>C (p.Glu707Gln)
16g.89284294C>TCA397162854ANKRD11c.2248G>A (p.Glu750Lys)
c.*2051G>A (n.*2051G>A)
c.1873G>A (p.Glu625Lys)
c.744+4234G>A (n.744+4234G>A)
n.4020G>A
c.151+4234G>A
c.2146G>A (p.Glu716Lys)
c.1951G>A (p.Glu651Lys)
c.2119G>A (p.Glu707Lys)
16g.89284295C>ACA397162857ANKRD11c.2247G>T (p.Lys749Asn)
c.*2050G>T (n.*2050G>T)
c.1872G>T (p.Lys624Asn)
c.744+4233G>T (n.744+4233G>T)
n.4019G>T
c.151+4233G>T
c.2145G>T (p.Lys715Asn)
c.1950G>T (p.Lys650Asn)
c.2118G>T (p.Lys706Asn)
 dbSNP
16g.89284295C=CA2241602453ANKRD11c.2247G= (p.Lys749=)
c.*2050G= (n.*2050G=)
c.1872G= (p.Lys624=)
c.744+4233G= (n.744+4233G=)
n.4019G=
c.151+4233G=
c.2145G= (p.Lys715=)
c.1950G= (p.Lys650=)
c.2118G= (p.Lys706=)
16g.89284295C>GCA397162858ANKRD11c.2247G>C (p.Lys749Asn)
c.*2050G>C (n.*2050G>C)
c.1872G>C (p.Lys624Asn)
c.744+4233G>C (n.744+4233G>C)
n.4019G>C
c.151+4233G>C
c.2145G>C (p.Lys715Asn)
c.1950G>C (p.Lys650Asn)
c.2118G>C (p.Lys706Asn)
16g.89284295C>TCA497375289ANKRD11c.2247G>A (p.Lys749=)
c.*2050G>A (n.*2050G>A)
c.1872G>A (p.Lys624=)
c.744+4233G>A (n.744+4233G>A)
n.4019G>A
c.151+4233G>A
c.2145G>A (p.Lys715=)
c.1950G>A (p.Lys650=)
c.2118G>A (p.Lys706=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284296T>ACA397162859ANKRD11c.2246A>T (p.Lys749Met)
c.*2049A>T (n.*2049A>T)
c.1871A>T (p.Lys624Met)
c.744+4232A>T (n.744+4232A>T)
n.4018A>T
c.151+4232A>T
c.2144A>T (p.Lys715Met)
c.1949A>T (p.Lys650Met)
c.2117A>T (p.Lys706Met)
16g.89284296T>CCA397162860ANKRD11c.2246A>G (p.Lys749Arg)
c.*2049A>G (n.*2049A>G)
c.1871A>G (p.Lys624Arg)
c.744+4232A>G (n.744+4232A>G)
n.4018A>G
c.151+4232A>G
c.2144A>G (p.Lys715Arg)
c.1949A>G (p.Lys650Arg)
c.2117A>G (p.Lys706Arg)
16g.89284296T>GCA397162861ANKRD11c.2246A>C (p.Lys749Thr)
c.*2049A>C (n.*2049A>C)
c.1871A>C (p.Lys624Thr)
c.744+4232A>C (n.744+4232A>C)
n.4018A>C
c.151+4232A>C
c.2144A>C (p.Lys715Thr)
c.1949A>C (p.Lys650Thr)
c.2117A>C (p.Lys706Thr)
16g.89284297T>ACA397162862ANKRD11c.2245A>T (p.Lys749Ter)
c.*2048A>T (n.*2048A>T)
c.1870A>T (p.Lys624Ter)
c.744+4231A>T (n.744+4231A>T)
n.4017A>T
c.151+4231A>T
c.2143A>T (p.Lys715Ter)
c.1948A>T (p.Lys650Ter)
c.2116A>T (p.Lys706Ter)
16g.89284297T>CCA397162863ANKRD11c.2245A>G (p.Lys749Glu)
c.*2048A>G (n.*2048A>G)
c.1870A>G (p.Lys624Glu)
c.744+4231A>G (n.744+4231A>G)
n.4017A>G
c.151+4231A>G
c.2143A>G (p.Lys715Glu)
c.1948A>G (p.Lys650Glu)
c.2116A>G (p.Lys706Glu)
16g.89284297T>GCA397162864ANKRD11c.2245A>C (p.Lys749Gln)
c.*2048A>C (n.*2048A>C)
c.1870A>C (p.Lys624Gln)
c.744+4231A>C (n.744+4231A>C)
n.4017A>C
c.151+4231A>C
c.2143A>C (p.Lys715Gln)
c.1948A>C (p.Lys650Gln)
c.2116A>C (p.Lys706Gln)
 gnomAD v4
16g.89284298C>ACA497375290ANKRD11c.2244G>T (p.Leu748=)
c.*2047G>T (n.*2047G>T)
c.1869G>T (p.Leu623=)
c.744+4230G>T (n.744+4230G>T)
n.4016G>T
c.151+4230G>T
c.2142G>T (p.Leu714=)
c.1947G>T (p.Leu649=)
c.2115G>T (p.Leu705=)
16g.89284298C=CA2241602455ANKRD11c.2244G= (p.Leu748=)
c.*2047G= (n.*2047G=)
c.1869G= (p.Leu623=)
c.744+4230G= (n.744+4230G=)
n.4016G=
c.151+4230G=
c.2142G= (p.Leu714=)
c.1947G= (p.Leu649=)
c.2115G= (p.Leu705=)
16g.89284298C>GCA497375291ANKRD11c.2244G>C (p.Leu748=)
c.*2047G>C (n.*2047G>C)
c.1869G>C (p.Leu623=)
c.744+4230G>C (n.744+4230G>C)
n.4016G>C
c.151+4230G>C
c.2142G>C (p.Leu714=)
c.1947G>C (p.Leu649=)
c.2115G>C (p.Leu705=)
 dbSNP
16g.89284298C>TCA497375292ANKRD11c.2244G>A (p.Leu748=)
c.*2047G>A (n.*2047G>A)
c.1869G>A (p.Leu623=)
c.744+4230G>A (n.744+4230G>A)
n.4016G>A
c.151+4230G>A
c.2142G>A (p.Leu714=)
c.1947G>A (p.Leu649=)
c.2115G>A (p.Leu705=)
16g.89284299A>CCA397162865ANKRD11c.2243T>G (p.Leu748Arg)
c.*2046T>G (n.*2046T>G)
c.1868T>G (p.Leu623Arg)
c.744+4229T>G (n.744+4229T>G)
n.4015T>G
c.151+4229T>G
c.2141T>G (p.Leu714Arg)
c.1946T>G (p.Leu649Arg)
c.2114T>G (p.Leu705Arg)
16g.89284299A>GCA397162866ANKRD11c.2243T>C (p.Leu748Pro)
c.*2046T>C (n.*2046T>C)
c.1868T>C (p.Leu623Pro)
c.744+4229T>C (n.744+4229T>C)
n.4015T>C
c.151+4229T>C
c.2141T>C (p.Leu714Pro)
c.1946T>C (p.Leu649Pro)
c.2114T>C (p.Leu705Pro)
 gnomAD v3 gnomAD v4
16g.89284299A>TCA397162867ANKRD11c.2243T>A (p.Leu748Gln)
c.*2046T>A (n.*2046T>A)
c.1868T>A (p.Leu623Gln)
c.744+4229T>A (n.744+4229T>A)
n.4015T>A
c.151+4229T>A
c.2141T>A (p.Leu714Gln)
c.1946T>A (p.Leu649Gln)
c.2114T>A (p.Leu705Gln)
16g.89284300G>ACA497375293ANKRD11c.2242C>T (p.Leu748=)
c.*2045C>T (n.*2045C>T)
c.1867C>T (p.Leu623=)
c.744+4228C>T (n.744+4228C>T)
n.4014C>T
c.151+4228C>T
c.2140C>T (p.Leu714=)
c.1945C>T (p.Leu649=)
c.2113C>T (p.Leu705=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89284300G>CCA397162868ANKRD11c.2242C>G (p.Leu748Val)
c.*2045C>G (n.*2045C>G)
c.1867C>G (p.Leu623Val)
c.744+4228C>G (n.744+4228C>G)
n.4014C>G
c.151+4228C>G
c.2140C>G (p.Leu714Val)
c.1945C>G (p.Leu649Val)
c.2113C>G (p.Leu705Val)
16g.89284300G=CA2241602457ANKRD11c.2242C= (p.Leu748=)
c.*2045C= (n.*2045C=)
c.1867C= (p.Leu623=)
c.744+4228C= (n.744+4228C=)
n.4014C=
c.151+4228C=
c.2140C= (p.Leu714=)
c.1945C= (p.Leu649=)
c.2113C= (p.Leu705=)
16g.89284300G>TCA397162869ANKRD11c.2242C>A (p.Leu748Met)
c.*2045C>A (n.*2045C>A)
c.1867C>A (p.Leu623Met)
c.744+4228C>A (n.744+4228C>A)
n.4014C>A
c.151+4228C>A
c.2140C>A (p.Leu714Met)
c.1945C>A (p.Leu649Met)
c.2113C>A (p.Leu705Met)
16g.89284301C>ACA497375295ANKRD11c.2241G>T (p.Ser747=)
c.*2044G>T (n.*2044G>T)
c.1866G>T (p.Ser622=)
c.744+4227G>T (n.744+4227G>T)
n.4013G>T
c.151+4227G>T
c.2139G>T (p.Ser713=)
c.1944G>T (p.Ser648=)
c.2112G>T (p.Ser704=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284301C=CA2241602459ANKRD11c.2241G= (p.Ser747=)
c.*2044G= (n.*2044G=)
c.1866G= (p.Ser622=)
c.744+4227G= (n.744+4227G=)
n.4013G=
c.151+4227G=
c.2139G= (p.Ser713=)
c.1944G= (p.Ser648=)
c.2112G= (p.Ser704=)
16g.89284301C>GCA497375294ANKRD11c.2241G>C (p.Ser747=)
c.*2044G>C (n.*2044G>C)
c.1866G>C (p.Ser622=)
c.744+4227G>C (n.744+4227G>C)
n.4013G>C
c.151+4227G>C
c.2139G>C (p.Ser713=)
c.1944G>C (p.Ser648=)
c.2112G>C (p.Ser704=)
16g.89284301C>TCA8242611ANKRD11c.2241G>A (p.Ser747=)
c.*2044G>A (n.*2044G>A)
c.1866G>A (p.Ser622=)
c.744+4227G>A (n.744+4227G>A)
n.4013G>A
c.151+4227G>A
c.2139G>A (p.Ser713=)
c.1944G>A (p.Ser648=)
c.2112G>A (p.Ser704=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284302G>ACA8242612ANKRD11c.2240C>T (p.Ser747Leu)
c.*2043C>T (n.*2043C>T)
c.1865C>T (p.Ser622Leu)
c.744+4226C>T (n.744+4226C>T)
n.4012C>T
c.151+4226C>T
c.2138C>T (p.Ser713Leu)
c.1943C>T (p.Ser648Leu)
c.2111C>T (p.Ser704Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284302G>CCA397162871ANKRD11c.2240C>G (p.Ser747Trp)
c.*2043C>G (n.*2043C>G)
c.1865C>G (p.Ser622Trp)
c.744+4226C>G (n.744+4226C>G)
n.4012C>G
c.151+4226C>G
c.2138C>G (p.Ser713Trp)
c.1943C>G (p.Ser648Trp)
c.2111C>G (p.Ser704Trp)
 gnomAD v4
16g.89284302G=CA2241602461ANKRD11c.2240C= (p.Ser747=)
c.*2043C= (n.*2043C=)
c.1865C= (p.Ser622=)
c.744+4226C= (n.744+4226C=)
n.4012C=
c.151+4226C=
c.2138C= (p.Ser713=)
c.1943C= (p.Ser648=)
c.2111C= (p.Ser704=)
16g.89284302G>TCA397162870ANKRD11c.2240C>A (p.Ser747Ter)
c.*2043C>A (n.*2043C>A)
c.1865C>A (p.Ser622Ter)
c.744+4226C>A (n.744+4226C>A)
n.4012C>A
c.151+4226C>A
c.2138C>A (p.Ser713Ter)
c.1943C>A (p.Ser648Ter)
c.2111C>A (p.Ser704Ter)
16g.89284303A=CA2241602464ANKRD11c.2239T= (p.Ser747=)
c.*2042T= (n.*2042T=)
c.1864T= (p.Ser622=)
c.744+4225T= (n.744+4225T=)
n.4011T=
c.151+4225T=
c.2137T= (p.Ser713=)
c.1942T= (p.Ser648=)
c.2110T= (p.Ser704=)
16g.89284303A>CCA397162872ANKRD11c.2239T>G (p.Ser747Ala)
c.*2042T>G (n.*2042T>G)
c.1864T>G (p.Ser622Ala)
c.744+4225T>G (n.744+4225T>G)
n.4011T>G
c.151+4225T>G
c.2137T>G (p.Ser713Ala)
c.1942T>G (p.Ser648Ala)
c.2110T>G (p.Ser704Ala)
 gnomAD v4
16g.89284303A>GCA8242613ANKRD11c.2239T>C (p.Ser747Pro)
c.*2042T>C (n.*2042T>C)
c.1864T>C (p.Ser622Pro)
c.744+4225T>C (n.744+4225T>C)
n.4011T>C
c.151+4225T>C
c.2137T>C (p.Ser713Pro)
c.1942T>C (p.Ser648Pro)
c.2110T>C (p.Ser704Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284303A>TCA397162873ANKRD11c.2239T>A (p.Ser747Thr)
c.*2042T>A (n.*2042T>A)
c.1864T>A (p.Ser622Thr)
c.744+4225T>A (n.744+4225T>A)
n.4011T>A
c.151+4225T>A
c.2137T>A (p.Ser713Thr)
c.1942T>A (p.Ser648Thr)
c.2110T>A (p.Ser704Thr)
16g.89284304T>ACA397162874ANKRD11c.2238A>T (p.Arg746Ser)
c.*2041A>T (n.*2041A>T)
c.1863A>T (p.Arg621Ser)
c.744+4224A>T (n.744+4224A>T)
n.4010A>T
c.151+4224A>T
c.2136A>T (p.Arg712Ser)
c.1941A>T (p.Arg647Ser)
c.2109A>T (p.Arg703Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.89284304T>CCA497375296ANKRD11c.2238A>G (p.Arg746=)
c.*2041A>G (n.*2041A>G)
c.1863A>G (p.Arg621=)
c.744+4224A>G (n.744+4224A>G)
n.4010A>G
c.151+4224A>G
c.2136A>G (p.Arg712=)
c.1941A>G (p.Arg647=)
c.2109A>G (p.Arg703=)
16g.89284304T>GCA397162875ANKRD11c.2238A>C (p.Arg746Ser)
c.*2041A>C (n.*2041A>C)
c.1863A>C (p.Arg621Ser)
c.744+4224A>C (n.744+4224A>C)
n.4010A>C
c.151+4224A>C
c.2136A>C (p.Arg712Ser)
c.1941A>C (p.Arg647Ser)
c.2109A>C (p.Arg703Ser)
16g.89284304T=CA2241602466ANKRD11c.2238A= (p.Arg746=)
c.*2041A= (n.*2041A=)
c.1863A= (p.Arg621=)
c.744+4224A= (n.744+4224A=)
n.4010A=
c.151+4224A=
c.2136A= (p.Arg712=)
c.1941A= (p.Arg647=)
c.2109A= (p.Arg703=)
16g.89284305C>ACA397162876ANKRD11c.2237G>T (p.Arg746Ile)
c.*2040G>T (n.*2040G>T)
c.1862G>T (p.Arg621Ile)
c.744+4223G>T (n.744+4223G>T)
n.4009G>T
c.151+4223G>T
c.2135G>T (p.Arg712Ile)
c.1940G>T (p.Arg647Ile)
c.2108G>T (p.Arg703Ile)
 ClinVar
16g.89284305C>GCA397162877ANKRD11c.2237G>C (p.Arg746Thr)
c.*2040G>C (n.*2040G>C)
c.1862G>C (p.Arg621Thr)
c.744+4223G>C (n.744+4223G>C)
n.4009G>C
c.151+4223G>C
c.2135G>C (p.Arg712Thr)
c.1940G>C (p.Arg647Thr)
c.2108G>C (p.Arg703Thr)
16g.89284305C>TCA397162878ANKRD11c.2237G>A (p.Arg746Lys)
c.*2040G>A (n.*2040G>A)
c.1862G>A (p.Arg621Lys)
c.744+4223G>A (n.744+4223G>A)
n.4009G>A
c.151+4223G>A
c.2135G>A (p.Arg712Lys)
c.1940G>A (p.Arg647Lys)
c.2108G>A (p.Arg703Lys)
 dbSNP
16g.89284306T>ACA397162879ANKRD11c.2236A>T (p.Arg746Ter)
c.*2039A>T (n.*2039A>T)
c.1861A>T (p.Arg621Ter)
c.744+4222A>T (n.744+4222A>T)
n.4008A>T
c.151+4222A>T
c.2134A>T (p.Arg712Ter)
c.1939A>T (p.Arg647Ter)
c.2107A>T (p.Arg703Ter)
16g.89284306T>CCA397162880ANKRD11c.2236A>G (p.Arg746Gly)
c.*2039A>G (n.*2039A>G)
c.1861A>G (p.Arg621Gly)
c.744+4222A>G (n.744+4222A>G)
n.4008A>G
c.151+4222A>G
c.2134A>G (p.Arg712Gly)
c.1939A>G (p.Arg647Gly)
c.2107A>G (p.Arg703Gly)
16g.89284306T>GCA497375297ANKRD11c.2236A>C (p.Arg746=)
c.*2039A>C (n.*2039A>C)
c.1861A>C (p.Arg621=)
c.744+4222A>C (n.744+4222A>C)
n.4008A>C
c.151+4222A>C
c.2134A>C (p.Arg712=)
c.1939A>C (p.Arg647=)
c.2107A>C (p.Arg703=)
 gnomAD v4
16g.89284307C>ACA397162881ANKRD11c.2235G>T (p.Glu745Asp)
c.*2038G>T (n.*2038G>T)
c.1860G>T (p.Glu620Asp)
c.744+4221G>T (n.744+4221G>T)
n.4007G>T
c.151+4221G>T
c.2133G>T (p.Glu711Asp)
c.1938G>T (p.Glu646Asp)
c.2106G>T (p.Glu702Asp)
16g.89284307C>GCA397162882ANKRD11c.2235G>C (p.Glu745Asp)
c.*2038G>C (n.*2038G>C)
c.1860G>C (p.Glu620Asp)
c.744+4221G>C (n.744+4221G>C)
n.4007G>C
c.151+4221G>C
c.2133G>C (p.Glu711Asp)
c.1938G>C (p.Glu646Asp)
c.2106G>C (p.Glu702Asp)
16g.89284307C>TCA497375298ANKRD11c.2235G>A (p.Glu745=)
c.*2038G>A (n.*2038G>A)
c.1860G>A (p.Glu620=)
c.744+4221G>A (n.744+4221G>A)
n.4007G>A
c.151+4221G>A
c.2133G>A (p.Glu711=)
c.1938G>A (p.Glu646=)
c.2106G>A (p.Glu702=)
16g.89284308T>ACA397162885ANKRD11c.2234A>T (p.Glu745Val)
c.*2037A>T (n.*2037A>T)
c.1859A>T (p.Glu620Val)
c.744+4220A>T (n.744+4220A>T)
n.4006A>T
c.151+4220A>T
c.2132A>T (p.Glu711Val)
c.1937A>T (p.Glu646Val)
c.2105A>T (p.Glu702Val)
 gnomAD v4
16g.89284308T>CCA397162884ANKRD11c.2234A>G (p.Glu745Gly)
c.*2037A>G (n.*2037A>G)
c.1859A>G (p.Glu620Gly)
c.744+4220A>G (n.744+4220A>G)
n.4006A>G
c.151+4220A>G
c.2132A>G (p.Glu711Gly)
c.1937A>G (p.Glu646Gly)
c.2105A>G (p.Glu702Gly)
 gnomAD v4
16g.89284308T>GCA397162883ANKRD11c.2234A>C (p.Glu745Ala)
c.*2037A>C (n.*2037A>C)
c.1859A>C (p.Glu620Ala)
c.744+4220A>C (n.744+4220A>C)
n.4006A>C
c.151+4220A>C
c.2132A>C (p.Glu711Ala)
c.1937A>C (p.Glu646Ala)
c.2105A>C (p.Glu702Ala)
16g.89284309C>ACA397162886ANKRD11c.2233G>T (p.Glu745Ter)
c.*2036G>T (n.*2036G>T)
c.1858G>T (p.Glu620Ter)
c.744+4219G>T (n.744+4219G>T)
n.4005G>T
c.151+4219G>T
c.2131G>T (p.Glu711Ter)
c.1936G>T (p.Glu646Ter)
c.2104G>T (p.Glu702Ter)
16g.89284309C>GCA397162887ANKRD11c.2233G>C (p.Glu745Gln)
c.*2036G>C (n.*2036G>C)
c.1858G>C (p.Glu620Gln)
c.744+4219G>C (n.744+4219G>C)
n.4005G>C
c.151+4219G>C
c.2131G>C (p.Glu711Gln)
c.1936G>C (p.Glu646Gln)
c.2104G>C (p.Glu702Gln)
16g.89284309C>TCA397162888ANKRD11c.2233G>A (p.Glu745Lys)
c.*2036G>A (n.*2036G>A)
c.1858G>A (p.Glu620Lys)
c.744+4219G>A (n.744+4219G>A)
n.4005G>A
c.151+4219G>A
c.2131G>A (p.Glu711Lys)
c.1936G>A (p.Glu646Lys)
c.2104G>A (p.Glu702Lys)
16g.89284309_89284312delinsCCTTCA2241602468ANKRD11c.2230_2233delinsAAGG (p.Lys744=)
c.*2033_*2036delinsAAGG (n.*2033_*2036delinsAAGG)
c.1855_1858delinsAAGG (p.Lys619=)
c.744+4216_744+4219delinsAAGG (n.744+4216_744+4219delinsAAGG)
n.4002_4005delinsAAGG
c.151+4216_151+4219delinsAAGG
c.2128_2131delinsAAGG (p.Lys710=)
c.1933_1936delinsAAGG (p.Lys645=)
c.2101_2104delinsAAGG (p.Lys701=)
16g.89284310C>ACA397162889ANKRD11c.2232G>T (p.Lys744Asn)
c.*2035G>T (n.*2035G>T)
c.1857G>T (p.Lys619Asn)
c.744+4218G>T (n.744+4218G>T)
n.4004G>T
c.151+4218G>T
c.2130G>T (p.Lys710Asn)
c.1935G>T (p.Lys645Asn)
c.2103G>T (p.Lys701Asn)
16g.89284310C>GCA397162890ANKRD11c.2232G>C (p.Lys744Asn)
c.*2035G>C (n.*2035G>C)
c.1857G>C (p.Lys619Asn)
c.744+4218G>C (n.744+4218G>C)
n.4004G>C
c.151+4218G>C
c.2130G>C (p.Lys710Asn)
c.1935G>C (p.Lys645Asn)
c.2103G>C (p.Lys701Asn)
16g.89284310C>TCA497375299ANKRD11c.2232G>A (p.Lys744=)
c.*2035G>A (n.*2035G>A)
c.1857G>A (p.Lys619=)
c.744+4218G>A (n.744+4218G>A)
n.4004G>A
c.151+4218G>A
c.2130G>A (p.Lys710=)
c.1935G>A (p.Lys645=)
c.2103G>A (p.Lys701=)
16g.89284310_89284312delCA2241602469ANKRD11c.2230_2232del (p.Lys744del)
c.*2033_*2035del (n.*2033_*2035del)
c.1855_1857del (p.Lys619del)
c.744+4216_744+4218del (n.744+4216_744+4218del)
n.4002_4004del
c.151+4216_151+4218del
c.2128_2130del (p.Lys710del)
c.1933_1935del (p.Lys645del)
c.2101_2103del (p.Lys701del)
 dbSNP
16g.89284311T>ACA397162891ANKRD11c.2231A>T (p.Lys744Met)
c.*2034A>T (n.*2034A>T)
c.1856A>T (p.Lys619Met)
c.744+4217A>T (n.744+4217A>T)
n.4003A>T
c.151+4217A>T
c.2129A>T (p.Lys710Met)
c.1934A>T (p.Lys645Met)
c.2102A>T (p.Lys701Met)
16g.89284311T>CCA8242614ANKRD11c.2231A>G (p.Lys744Arg)
c.*2034A>G (n.*2034A>G)
c.1856A>G (p.Lys619Arg)
c.744+4217A>G (n.744+4217A>G)
n.4003A>G
c.151+4217A>G
c.2129A>G (p.Lys710Arg)
c.1934A>G (p.Lys645Arg)
c.2102A>G (p.Lys701Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284311T>GCA397162892ANKRD11c.2231A>C (p.Lys744Thr)
c.*2034A>C (n.*2034A>C)
c.1856A>C (p.Lys619Thr)
c.744+4217A>C (n.744+4217A>C)
n.4003A>C
c.151+4217A>C
c.2129A>C (p.Lys710Thr)
c.1934A>C (p.Lys645Thr)
c.2102A>C (p.Lys701Thr)
16g.89284311T=CA2241602471ANKRD11c.2231A= (p.Lys744=)
c.*2034A= (n.*2034A=)
c.1856A= (p.Lys619=)
c.744+4217A= (n.744+4217A=)
n.4003A=
c.151+4217A=
c.2129A= (p.Lys710=)
c.1934A= (p.Lys645=)
c.2102A= (p.Lys701=)
16g.89284312T>ACA397162893ANKRD11c.2230A>T (p.Lys744Ter)
c.*2033A>T (n.*2033A>T)
c.1855A>T (p.Lys619Ter)
c.744+4216A>T (n.744+4216A>T)
n.4002A>T
c.151+4216A>T
c.2128A>T (p.Lys710Ter)
c.1933A>T (p.Lys645Ter)
c.2101A>T (p.Lys701Ter)
16g.89284312T>CCA397162894ANKRD11c.2230A>G (p.Lys744Glu)
c.*2033A>G (n.*2033A>G)
c.1855A>G (p.Lys619Glu)
c.744+4216A>G (n.744+4216A>G)
n.4002A>G
c.151+4216A>G
c.2128A>G (p.Lys710Glu)
c.1933A>G (p.Lys645Glu)
c.2101A>G (p.Lys701Glu)
 gnomAD v4
16g.89284312T>GCA397162895ANKRD11c.2230A>C (p.Lys744Gln)
c.*2033A>C (n.*2033A>C)
c.1855A>C (p.Lys619Gln)
c.744+4216A>C (n.744+4216A>C)
n.4002A>C
c.151+4216A>C
c.2128A>C (p.Lys710Gln)
c.1933A>C (p.Lys645Gln)
c.2101A>C (p.Lys701Gln)
16g.89284313T>ACA397162896ANKRD11c.2229A>T (p.Glu743Asp)
c.*2032A>T (n.*2032A>T)
c.1854A>T (p.Glu618Asp)
c.744+4215A>T (n.744+4215A>T)
n.4001A>T
c.151+4215A>T
c.2127A>T (p.Glu709Asp)
c.1932A>T (p.Glu644Asp)
c.2100A>T (p.Glu700Asp)
16g.89284313T>CCA497375300ANKRD11c.2229A>G (p.Glu743=)
c.*2032A>G (n.*2032A>G)
c.1854A>G (p.Glu618=)
c.744+4215A>G (n.744+4215A>G)
n.4001A>G
c.151+4215A>G
c.2127A>G (p.Glu709=)
c.1932A>G (p.Glu644=)
c.2100A>G (p.Glu700=)
 gnomAD v4
16g.89284313T>GCA397162897ANKRD11c.2229A>C (p.Glu743Asp)
c.*2032A>C (n.*2032A>C)
c.1854A>C (p.Glu618Asp)
c.744+4215A>C (n.744+4215A>C)
n.4001A>C
c.151+4215A>C
c.2127A>C (p.Glu709Asp)
c.1932A>C (p.Glu644Asp)
c.2100A>C (p.Glu700Asp)
16g.89284314T>ACA397162900ANKRD11c.2228A>T (p.Glu743Val)
c.*2031A>T (n.*2031A>T)
c.1853A>T (p.Glu618Val)
c.744+4214A>T (n.744+4214A>T)
n.4000A>T
c.151+4214A>T
c.2126A>T (p.Glu709Val)
c.1931A>T (p.Glu644Val)
c.2099A>T (p.Glu700Val)
16g.89284314T>CCA397162898ANKRD11c.2228A>G (p.Glu743Gly)
c.*2031A>G (n.*2031A>G)
c.1853A>G (p.Glu618Gly)
c.744+4214A>G (n.744+4214A>G)
n.4000A>G
c.151+4214A>G
c.2126A>G (p.Glu709Gly)
c.1931A>G (p.Glu644Gly)
c.2099A>G (p.Glu700Gly)
16g.89284314T>GCA397162899ANKRD11c.2228A>C (p.Glu743Ala)
c.*2031A>C (n.*2031A>C)
c.1853A>C (p.Glu618Ala)
c.744+4214A>C (n.744+4214A>C)
n.4000A>C
c.151+4214A>C
c.2126A>C (p.Glu709Ala)
c.1931A>C (p.Glu644Ala)
c.2099A>C (p.Glu700Ala)
16g.89284315C>ACA397162901ANKRD11c.2227G>T (p.Glu743Ter)
c.*2030G>T (n.*2030G>T)
c.1852G>T (p.Glu618Ter)
c.744+4213G>T (n.744+4213G>T)
n.3999G>T
c.151+4213G>T
c.2125G>T (p.Glu709Ter)
c.1930G>T (p.Glu644Ter)
c.2098G>T (p.Glu700Ter)
16g.89284315C>GCA397162902ANKRD11c.2227G>C (p.Glu743Gln)
c.*2030G>C (n.*2030G>C)
c.1852G>C (p.Glu618Gln)
c.744+4213G>C (n.744+4213G>C)
n.3999G>C
c.151+4213G>C
c.2125G>C (p.Glu709Gln)
c.1930G>C (p.Glu644Gln)
c.2098G>C (p.Glu700Gln)
16g.89284315C>TCA397162903ANKRD11c.2227G>A (p.Glu743Lys)
c.*2030G>A (n.*2030G>A)
c.1852G>A (p.Glu618Lys)
c.744+4213G>A (n.744+4213G>A)
n.3999G>A
c.151+4213G>A
c.2125G>A (p.Glu709Lys)
c.1930G>A (p.Glu644Lys)
c.2098G>A (p.Glu700Lys)
 gnomAD v4
16g.89284316T>ACA497375303ANKRD11c.2226A>T (p.Ala742=)
c.*2029A>T (n.*2029A>T)
c.1851A>T (p.Ala617=)
c.744+4212A>T (n.744+4212A>T)
n.3998A>T
c.151+4212A>T
c.2124A>T (p.Ala708=)
c.1929A>T (p.Ala643=)
c.2097A>T (p.Ala699=)
16g.89284316T>CCA497375304ANKRD11c.2226A>G (p.Ala742=)
c.*2029A>G (n.*2029A>G)
c.1851A>G (p.Ala617=)
c.744+4212A>G (n.744+4212A>G)
n.3998A>G
c.151+4212A>G
c.2124A>G (p.Ala708=)
c.1929A>G (p.Ala643=)
c.2097A>G (p.Ala699=)
16g.89284316T>GCA497375306ANKRD11c.2226A>C (p.Ala742=)
c.*2029A>C (n.*2029A>C)
c.1851A>C (p.Ala617=)
c.744+4212A>C (n.744+4212A>C)
n.3998A>C
c.151+4212A>C
c.2124A>C (p.Ala708=)
c.1929A>C (p.Ala643=)
c.2097A>C (p.Ala699=)
16g.89284317G>ACA397162904ANKRD11c.2225C>T (p.Ala742Val)
c.*2028C>T (n.*2028C>T)
c.1850C>T (p.Ala617Val)
c.744+4211C>T (n.744+4211C>T)
n.3997C>T
c.151+4211C>T
c.2123C>T (p.Ala708Val)
c.1928C>T (p.Ala643Val)
c.2096C>T (p.Ala699Val)
16g.89284317G>CCA397162905ANKRD11c.2225C>G (p.Ala742Gly)
c.*2028C>G (n.*2028C>G)
c.1850C>G (p.Ala617Gly)
c.744+4211C>G (n.744+4211C>G)
n.3997C>G
c.151+4211C>G
c.2123C>G (p.Ala708Gly)
c.1928C>G (p.Ala643Gly)
c.2096C>G (p.Ala699Gly)
16g.89284317G>TCA397162906ANKRD11c.2225C>A (p.Ala742Glu)
c.*2028C>A (n.*2028C>A)
c.1850C>A (p.Ala617Glu)
c.744+4211C>A (n.744+4211C>A)
n.3997C>A
c.151+4211C>A
c.2123C>A (p.Ala708Glu)
c.1928C>A (p.Ala643Glu)
c.2096C>A (p.Ala699Glu)
16g.89284318C>ACA397162907ANKRD11c.2224G>T (p.Ala742Ser)
c.*2027G>T (n.*2027G>T)
c.1849G>T (p.Ala617Ser)
c.744+4210G>T (n.744+4210G>T)
n.3996G>T
c.151+4210G>T
c.2122G>T (p.Ala708Ser)
c.1927G>T (p.Ala643Ser)
c.2095G>T (p.Ala699Ser)
16g.89284318C>GCA397162908ANKRD11c.2224G>C (p.Ala742Pro)
c.*2027G>C (n.*2027G>C)
c.1849G>C (p.Ala617Pro)
c.744+4210G>C (n.744+4210G>C)
n.3996G>C
c.151+4210G>C
c.2122G>C (p.Ala708Pro)
c.1927G>C (p.Ala643Pro)
c.2095G>C (p.Ala699Pro)
16g.89284318C>TCA397162909ANKRD11c.2224G>A (p.Ala742Thr)
c.*2027G>A (n.*2027G>A)
c.1849G>A (p.Ala617Thr)
c.744+4210G>A (n.744+4210G>A)
n.3996G>A
c.151+4210G>A
c.2122G>A (p.Ala708Thr)
c.1927G>A (p.Ala643Thr)
c.2095G>A (p.Ala699Thr)
 gnomAD v4
16g.89284319T>ACA397162910ANKRD11c.2223A>T (p.Lys741Asn)
c.*2026A>T (n.*2026A>T)
c.1848A>T (p.Lys616Asn)
c.744+4209A>T (n.744+4209A>T)
n.3995A>T
c.151+4209A>T
c.2121A>T (p.Lys707Asn)
c.1926A>T (p.Lys642Asn)
c.2094A>T (p.Lys698Asn)
16g.89284319T>CCA497375307ANKRD11c.2223A>G (p.Lys741=)
c.*2026A>G (n.*2026A>G)
c.1848A>G (p.Lys616=)
c.744+4209A>G (n.744+4209A>G)
n.3995A>G
c.151+4209A>G
c.2121A>G (p.Lys707=)
c.1926A>G (p.Lys642=)
c.2094A>G (p.Lys698=)
16g.89284319T>GCA397162911ANKRD11c.2223A>C (p.Lys741Asn)
c.*2026A>C (n.*2026A>C)
c.1848A>C (p.Lys616Asn)
c.744+4209A>C (n.744+4209A>C)
n.3995A>C
c.151+4209A>C
c.2121A>C (p.Lys707Asn)
c.1926A>C (p.Lys642Asn)
c.2094A>C (p.Lys698Asn)
16g.89284320T>ACA397162914ANKRD11c.2222A>T (p.Lys741Ile)
c.*2025A>T (n.*2025A>T)
c.1847A>T (p.Lys616Ile)
c.744+4208A>T (n.744+4208A>T)
n.3994A>T
c.151+4208A>T
c.2120A>T (p.Lys707Ile)
c.1925A>T (p.Lys642Ile)
c.2093A>T (p.Lys698Ile)
16g.89284320T>CCA397162913ANKRD11c.2222A>G (p.Lys741Arg)
c.*2025A>G (n.*2025A>G)
c.1847A>G (p.Lys616Arg)
c.744+4208A>G (n.744+4208A>G)
n.3994A>G
c.151+4208A>G
c.2120A>G (p.Lys707Arg)
c.1925A>G (p.Lys642Arg)
c.2093A>G (p.Lys698Arg)
16g.89284320T>GCA397162912ANKRD11c.2222A>C (p.Lys741Thr)
c.*2025A>C (n.*2025A>C)
c.1847A>C (p.Lys616Thr)
c.744+4208A>C (n.744+4208A>C)
n.3994A>C
c.151+4208A>C
c.2120A>C (p.Lys707Thr)
c.1925A>C (p.Lys642Thr)
c.2093A>C (p.Lys698Thr)
16g.89284321T>ACA397162915ANKRD11c.2221A>T (p.Lys741Ter)
c.*2024A>T (n.*2024A>T)
c.1846A>T (p.Lys616Ter)
c.744+4207A>T (n.744+4207A>T)
n.3993A>T
c.151+4207A>T
c.2119A>T (p.Lys707Ter)
c.1924A>T (p.Lys642Ter)
c.2092A>T (p.Lys698Ter)
16g.89284321T>CCA397162917ANKRD11c.2221A>G (p.Lys741Glu)
c.*2024A>G (n.*2024A>G)
c.1846A>G (p.Lys616Glu)
c.744+4207A>G (n.744+4207A>G)
n.3993A>G
c.151+4207A>G
c.2119A>G (p.Lys707Glu)
c.1924A>G (p.Lys642Glu)
c.2092A>G (p.Lys698Glu)
 ClinVar
16g.89284321T>GCA397162916ANKRD11c.2221A>C (p.Lys741Gln)
c.*2024A>C (n.*2024A>C)
c.1846A>C (p.Lys616Gln)
c.744+4207A>C (n.744+4207A>C)
n.3993A>C
c.151+4207A>C
c.2119A>C (p.Lys707Gln)
c.1924A>C (p.Lys642Gln)
c.2092A>C (p.Lys698Gln)
16g.89284322A>CCA397162918ANKRD11c.2220T>G (p.Asn740Lys)
c.*2023T>G (n.*2023T>G)
c.1845T>G (p.Asn615Lys)
c.744+4206T>G (n.744+4206T>G)
n.3992T>G
c.151+4206T>G
c.2118T>G (p.Asn706Lys)
c.1923T>G (p.Asn641Lys)
c.2091T>G (p.Asn697Lys)
16g.89284322A>GCA497375308ANKRD11c.2220T>C (p.Asn740=)
c.*2023T>C (n.*2023T>C)
c.1845T>C (p.Asn615=)
c.744+4206T>C (n.744+4206T>C)
n.3992T>C
c.151+4206T>C
c.2118T>C (p.Asn706=)
c.1923T>C (p.Asn641=)
c.2091T>C (p.Asn697=)
16g.89284322A>TCA397162919ANKRD11c.2220T>A (p.Asn740Lys)
c.*2023T>A (n.*2023T>A)
c.1845T>A (p.Asn615Lys)
c.744+4206T>A (n.744+4206T>A)
n.3992T>A
c.151+4206T>A
c.2118T>A (p.Asn706Lys)
c.1923T>A (p.Asn641Lys)
c.2091T>A (p.Asn697Lys)
16g.89284323T>ACA397162920ANKRD11c.2219A>T (p.Asn740Ile)
c.*2022A>T (n.*2022A>T)
c.1844A>T (p.Asn615Ile)
c.744+4205A>T (n.744+4205A>T)
n.3991A>T
c.151+4205A>T
c.2117A>T (p.Asn706Ile)
c.1922A>T (p.Asn641Ile)
c.2090A>T (p.Asn697Ile)
16g.89284323T>CCA397162921ANKRD11c.2219A>G (p.Asn740Ser)
c.*2022A>G (n.*2022A>G)
c.1844A>G (p.Asn615Ser)
c.744+4205A>G (n.744+4205A>G)
n.3991A>G
c.151+4205A>G
c.2117A>G (p.Asn706Ser)
c.1922A>G (p.Asn641Ser)
c.2090A>G (p.Asn697Ser)
 gnomAD v4
16g.89284323T>GCA397162922ANKRD11c.2219A>C (p.Asn740Thr)
c.*2022A>C (n.*2022A>C)
c.1844A>C (p.Asn615Thr)
c.744+4205A>C (n.744+4205A>C)
n.3991A>C
c.151+4205A>C
c.2117A>C (p.Asn706Thr)
c.1922A>C (p.Asn641Thr)
c.2090A>C (p.Asn697Thr)
16g.89284324T>ACA397162923ANKRD11c.2218A>T (p.Asn740Tyr)
c.*2021A>T (n.*2021A>T)
c.1843A>T (p.Asn615Tyr)
c.744+4204A>T (n.744+4204A>T)
n.3990A>T
c.151+4204A>T
c.2116A>T (p.Asn706Tyr)
c.1921A>T (p.Asn641Tyr)
c.2089A>T (p.Asn697Tyr)
16g.89284324T>CCA397162924ANKRD11c.2218A>G (p.Asn740Asp)
c.*2021A>G (n.*2021A>G)
c.1843A>G (p.Asn615Asp)
c.744+4204A>G (n.744+4204A>G)
n.3990A>G
c.151+4204A>G
c.2116A>G (p.Asn706Asp)
c.1921A>G (p.Asn641Asp)
c.2089A>G (p.Asn697Asp)
16g.89284324T>GCA397162925ANKRD11c.2218A>C (p.Asn740His)
c.*2021A>C (n.*2021A>C)
c.1843A>C (p.Asn615His)
c.744+4204A>C (n.744+4204A>C)
n.3990A>C
c.151+4204A>C
c.2116A>C (p.Asn706His)
c.1921A>C (p.Asn641His)
c.2089A>C (p.Asn697His)
16g.89284325C>ACA497375311ANKRD11c.2217G>T (p.Ser739=)
c.*2020G>T (n.*2020G>T)
c.1842G>T (p.Ser614=)
c.744+4203G>T (n.744+4203G>T)
n.3989G>T
c.151+4203G>T
c.2115G>T (p.Ser705=)
c.1920G>T (p.Ser640=)
c.2088G>T (p.Ser696=)
16g.89284325C=CA2241602472ANKRD11c.2217G= (p.Ser739=)
c.*2020G= (n.*2020G=)
c.1842G= (p.Ser614=)
c.744+4203G= (n.744+4203G=)
n.3989G=
c.151+4203G=
c.2115G= (p.Ser705=)
c.1920G= (p.Ser640=)
c.2088G= (p.Ser696=)
16g.89284325C>GCA497375310ANKRD11c.2217G>C (p.Ser739=)
c.*2020G>C (n.*2020G>C)
c.1842G>C (p.Ser614=)
c.744+4203G>C (n.744+4203G>C)
n.3989G>C
c.151+4203G>C
c.2115G>C (p.Ser705=)
c.1920G>C (p.Ser640=)
c.2088G>C (p.Ser696=)
16g.89284325C>TCA286519549ANKRD11c.2217G>A (p.Ser739=)
c.*2020G>A (n.*2020G>A)
c.1842G>A (p.Ser614=)
c.744+4203G>A (n.744+4203G>A)
n.3989G>A
c.151+4203G>A
c.2115G>A (p.Ser705=)
c.1920G>A (p.Ser640=)
c.2088G>A (p.Ser696=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89284327_89284330delCA2695223984ANKRD11c.2214_2217del (p.Ser739IlefsTer9)
c.*2017_*2020del (n.*2017_*2020del)
c.1839_1842del (p.Ser614IlefsTer9)
c.744+4200_744+4203del (n.744+4200_744+4203del)
n.3986_3989del
c.151+4200_151+4203del
c.2112_2115del (p.Ser705IlefsTer9)
c.1917_1920del (p.Ser640IlefsTer9)
c.2085_2088del (p.Ser696IlefsTer9)
16g.89284326G>ACA8242615ANKRD11c.2216C>T (p.Ser739Leu)
c.*2019C>T (n.*2019C>T)
c.1841C>T (p.Ser614Leu)
c.744+4202C>T (n.744+4202C>T)
n.3988C>T
c.151+4202C>T
c.2114C>T (p.Ser705Leu)
c.1919C>T (p.Ser640Leu)
c.2087C>T (p.Ser696Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89284326G>CCA8242616ANKRD11c.2216C>G (p.Ser739Trp)
c.*2019C>G (n.*2019C>G)
c.1841C>G (p.Ser614Trp)
c.744+4202C>G (n.744+4202C>G)
n.3988C>G
c.151+4202C>G
c.2114C>G (p.Ser705Trp)
c.1919C>G (p.Ser640Trp)
c.2087C>G (p.Ser696Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284326G=CA2241602475ANKRD11c.2216C= (p.Ser739=)
c.*2019C= (n.*2019C=)
c.1841C= (p.Ser614=)
c.744+4202C= (n.744+4202C=)
n.3988C=
c.151+4202C=
c.2114C= (p.Ser705=)
c.1919C= (p.Ser640=)
c.2087C= (p.Ser696=)
16g.89284326G>TCA397162926ANKRD11c.2216C>A (p.Ser739Ter)
c.*2019C>A (n.*2019C>A)
c.1841C>A (p.Ser614Ter)
c.744+4202C>A (n.744+4202C>A)
n.3988C>A
c.151+4202C>A
c.2114C>A (p.Ser705Ter)
c.1919C>A (p.Ser640Ter)
c.2087C>A (p.Ser696Ter)
 ClinVar
16g.89284327A>CCA397162927ANKRD11c.2215T>G (p.Ser739Ala)
c.*2018T>G (n.*2018T>G)
c.1840T>G (p.Ser614Ala)
c.744+4201T>G (n.744+4201T>G)
n.3987T>G
c.151+4201T>G
c.2113T>G (p.Ser705Ala)
c.1918T>G (p.Ser640Ala)
c.2086T>G (p.Ser696Ala)
16g.89284327A>GCA397162928ANKRD11c.2215T>C (p.Ser739Pro)
c.*2018T>C (n.*2018T>C)
c.1840T>C (p.Ser614Pro)
c.744+4201T>C (n.744+4201T>C)
n.3987T>C
c.151+4201T>C
c.2113T>C (p.Ser705Pro)
c.1918T>C (p.Ser640Pro)
c.2086T>C (p.Ser696Pro)
 gnomAD v4
16g.89284327A>TCA397162929ANKRD11c.2215T>A (p.Ser739Thr)
c.*2018T>A (n.*2018T>A)
c.1840T>A (p.Ser614Thr)
c.744+4201T>A (n.744+4201T>A)
n.3987T>A
c.151+4201T>A
c.2113T>A (p.Ser705Thr)
c.1918T>A (p.Ser640Thr)
c.2086T>A (p.Ser696Thr)
16g.89284328A>CCA497375313ANKRD11c.2214T>G (p.Arg738=)
c.*2017T>G (n.*2017T>G)
c.1839T>G (p.Arg613=)
c.744+4200T>G (n.744+4200T>G)
n.3986T>G
c.151+4200T>G
c.2112T>G (p.Arg704=)
c.1917T>G (p.Arg639=)
c.2085T>G (p.Arg695=)
16g.89284328A>GCA497375315ANKRD11c.2214T>C (p.Arg738=)
c.*2017T>C (n.*2017T>C)
c.1839T>C (p.Arg613=)
c.744+4200T>C (n.744+4200T>C)
n.3986T>C
c.151+4200T>C
c.2112T>C (p.Arg704=)
c.1917T>C (p.Arg639=)
c.2085T>C (p.Arg695=)
16g.89284328A>TCA497375314ANKRD11c.2214T>A (p.Arg738=)
c.*2017T>A (n.*2017T>A)
c.1839T>A (p.Arg613=)
c.744+4200T>A (n.744+4200T>A)
n.3986T>A
c.151+4200T>A
c.2112T>A (p.Arg704=)
c.1917T>A (p.Arg639=)
c.2085T>A (p.Arg695=)
16g.89284329C>ACA397162930ANKRD11c.2213G>T (p.Arg738Leu)
c.*2016G>T (n.*2016G>T)
c.1838G>T (p.Arg613Leu)
c.744+4199G>T (n.744+4199G>T)
n.3985G>T
c.151+4199G>T
c.2111G>T (p.Arg704Leu)
c.1916G>T (p.Arg639Leu)
c.2084G>T (p.Arg695Leu)
16g.89284329C=CA2241602479ANKRD11c.2213G= (p.Arg738=)
c.*2016G= (n.*2016G=)
c.1838G= (p.Arg613=)
c.744+4199G= (n.744+4199G=)
n.3985G=
c.151+4199G=
c.2111G= (p.Arg704=)
c.1916G= (p.Arg639=)
c.2084G= (p.Arg695=)
16g.89284329C>GCA397162931ANKRD11c.2213G>C (p.Arg738Pro)
c.*2016G>C (n.*2016G>C)
c.1838G>C (p.Arg613Pro)
c.744+4199G>C (n.744+4199G>C)
n.3985G>C
c.151+4199G>C
c.2111G>C (p.Arg704Pro)
c.1916G>C (p.Arg639Pro)
c.2084G>C (p.Arg695Pro)
16g.89284329C>TCA8242617ANKRD11c.2213G>A (p.Arg738His)
c.*2016G>A (n.*2016G>A)
c.1838G>A (p.Arg613His)
c.744+4199G>A (n.744+4199G>A)
n.3985G>A
c.151+4199G>A
c.2111G>A (p.Arg704His)
c.1916G>A (p.Arg639His)
c.2084G>A (p.Arg695His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89284330G>ACA8242619ANKRD11c.2212C>T (p.Arg738Cys)
c.*2015C>T (n.*2015C>T)
c.1837C>T (p.Arg613Cys)
c.744+4198C>T (n.744+4198C>T)
n.3984C>T
c.151+4198C>T
c.2110C>T (p.Arg704Cys)
c.1915C>T (p.Arg639Cys)
c.2083C>T (p.Arg695Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89284330G>CCA8242618ANKRD11c.2212C>G (p.Arg738Gly)
c.*2015C>G (n.*2015C>G)
c.1837C>G (p.Arg613Gly)
c.744+4198C>G (n.744+4198C>G)
n.3984C>G
c.151+4198C>G
c.2110C>G (p.Arg704Gly)
c.1915C>G (p.Arg639Gly)
c.2083C>G (p.Arg695Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284330G=CA2241602482ANKRD11c.2212C= (p.Arg738=)
c.*2015C= (n.*2015C=)
c.1837C= (p.Arg613=)
c.744+4198C= (n.744+4198C=)
n.3984C=
c.151+4198C=
c.2110C= (p.Arg704=)
c.1915C= (p.Arg639=)
c.2083C= (p.Arg695=)
16g.89284330G>TCA397162932ANKRD11c.2212C>A (p.Arg738Ser)
c.*2015C>A (n.*2015C>A)
c.1837C>A (p.Arg613Ser)
c.744+4198C>A (n.744+4198C>A)
n.3984C>A
c.151+4198C>A
c.2110C>A (p.Arg704Ser)
c.1915C>A (p.Arg639Ser)
c.2083C>A (p.Arg695Ser)
 dbSNP
16g.89284330_89284331delinsAACA645596980ANKRD11c.2211_2212delinsTT (p.Arg738Cys)
c.*2014_*2015delinsTT (n.*2014_*2015delinsTT)
c.1836_1837delinsTT (p.Arg613Cys)
c.744+4197_744+4198delinsTT (n.744+4197_744+4198delinsTT)
n.3983_3984delinsTT
c.151+4197_151+4198delinsTT
c.2109_2110delinsTT (p.Arg704Cys)
c.1914_1915delinsTT (p.Arg639Cys)
c.2082_2083delinsTT (p.Arg695Cys)
 COSMIC
16g.89284331G>ACA497375318ANKRD11c.2211C>T (p.Asp737=)
c.*2014C>T (n.*2014C>T)
c.1836C>T (p.Asp612=)
c.744+4197C>T (n.744+4197C>T)
n.3983C>T
c.151+4197C>T
c.2109C>T (p.Asp703=)
c.1914C>T (p.Asp638=)
c.2082C>T (p.Asp694=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89284331G>CCA397162933ANKRD11c.2211C>G (p.Asp737Glu)
c.*2014C>G (n.*2014C>G)
c.1836C>G (p.Asp612Glu)
c.744+4197C>G (n.744+4197C>G)
n.3983C>G
c.151+4197C>G
c.2109C>G (p.Asp703Glu)
c.1914C>G (p.Asp638Glu)
c.2082C>G (p.Asp694Glu)
 dbSNP gnomAD v4
16g.89284331G=CA2241602484ANKRD11c.2211C= (p.Asp737=)
c.*2014C= (n.*2014C=)
c.1836C= (p.Asp612=)
c.744+4197C= (n.744+4197C=)
n.3983C=
c.151+4197C=
c.2109C= (p.Asp703=)
c.1914C= (p.Asp638=)
c.2082C= (p.Asp694=)
16g.89284331G>TCA397162934ANKRD11c.2211C>A (p.Asp737Glu)
c.*2014C>A (n.*2014C>A)
c.1836C>A (p.Asp612Glu)
c.744+4197C>A (n.744+4197C>A)
n.3983C>A
c.151+4197C>A
c.2109C>A (p.Asp703Glu)
c.1914C>A (p.Asp638Glu)
c.2082C>A (p.Asp694Glu)
16g.89284332T>ACA397162935ANKRD11c.2210A>T (p.Asp737Val)
c.*2013A>T (n.*2013A>T)
c.1835A>T (p.Asp612Val)
c.744+4196A>T (n.744+4196A>T)
n.3982A>T
c.151+4196A>T
c.2108A>T (p.Asp703Val)
c.1913A>T (p.Asp638Val)
c.2081A>T (p.Asp694Val)
16g.89284332T>CCA397162936ANKRD11c.2210A>G (p.Asp737Gly)
c.*2013A>G (n.*2013A>G)
c.1835A>G (p.Asp612Gly)
c.744+4196A>G (n.744+4196A>G)
n.3982A>G
c.151+4196A>G
c.2108A>G (p.Asp703Gly)
c.1913A>G (p.Asp638Gly)
c.2081A>G (p.Asp694Gly)
16g.89284332T>GCA397162937ANKRD11c.2210A>C (p.Asp737Ala)
c.*2013A>C (n.*2013A>C)
c.1835A>C (p.Asp612Ala)
c.744+4196A>C (n.744+4196A>C)
n.3982A>C
c.151+4196A>C
c.2108A>C (p.Asp703Ala)
c.1913A>C (p.Asp638Ala)
c.2081A>C (p.Asp694Ala)
16g.89284333C>ACA397162938ANKRD11c.2209G>T (p.Asp737Tyr)
c.*2012G>T (n.*2012G>T)
c.1834G>T (p.Asp612Tyr)
c.744+4195G>T (n.744+4195G>T)
n.3981G>T
c.151+4195G>T
c.2107G>T (p.Asp703Tyr)
c.1912G>T (p.Asp638Tyr)
c.2080G>T (p.Asp694Tyr)
16g.89284333C>GCA397162939ANKRD11c.2209G>C (p.Asp737His)
c.*2012G>C (n.*2012G>C)
c.1834G>C (p.Asp612His)
c.744+4195G>C (n.744+4195G>C)
n.3981G>C
c.151+4195G>C
c.2107G>C (p.Asp703His)
c.1912G>C (p.Asp638His)
c.2080G>C (p.Asp694His)
 gnomAD v4
16g.89284333C>TCA397162940ANKRD11c.2209G>A (p.Asp737Asn)
c.*2012G>A (n.*2012G>A)
c.1834G>A (p.Asp612Asn)
c.744+4195G>A (n.744+4195G>A)
n.3981G>A
c.151+4195G>A
c.2107G>A (p.Asp703Asn)
c.1912G>A (p.Asp638Asn)
c.2080G>A (p.Asp694Asn)
16g.89284334T>ACA397162942ANKRD11c.2208A>T (p.Lys736Asn)
c.*2011A>T (n.*2011A>T)
c.1833A>T (p.Lys611Asn)
c.744+4194A>T (n.744+4194A>T)
n.3980A>T
c.151+4194A>T
c.2106A>T (p.Lys702Asn)
c.1911A>T (p.Lys637Asn)
c.2079A>T (p.Lys693Asn)
16g.89284334T>CCA8242620ANKRD11c.2208A>G (p.Lys736=)
c.*2011A>G (n.*2011A>G)
c.1833A>G (p.Lys611=)
c.744+4194A>G (n.744+4194A>G)
n.3980A>G
c.151+4194A>G
c.2106A>G (p.Lys702=)
c.1911A>G (p.Lys637=)
c.2079A>G (p.Lys693=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284334T>GCA397162941ANKRD11c.2208A>C (p.Lys736Asn)
c.*2011A>C (n.*2011A>C)
c.1833A>C (p.Lys611Asn)
c.744+4194A>C (n.744+4194A>C)
n.3980A>C
c.151+4194A>C
c.2106A>C (p.Lys702Asn)
c.1911A>C (p.Lys637Asn)
c.2079A>C (p.Lys693Asn)
16g.89284334T=CA2241602486ANKRD11c.2208A= (p.Lys736=)
c.*2011A= (n.*2011A=)
c.1833A= (p.Lys611=)
c.744+4194A= (n.744+4194A=)
n.3980A=
c.151+4194A=
c.2106A= (p.Lys702=)
c.1911A= (p.Lys637=)
c.2079A= (p.Lys693=)
16g.89284335T>ACA397162944ANKRD11c.2207A>T (p.Lys736Ile)
c.*2010A>T (n.*2010A>T)
c.1832A>T (p.Lys611Ile)
c.744+4193A>T (n.744+4193A>T)
n.3979A>T
c.151+4193A>T
c.2105A>T (p.Lys702Ile)
c.1910A>T (p.Lys637Ile)
c.2078A>T (p.Lys693Ile)
16g.89284335T>CCA8242621ANKRD11c.2207A>G (p.Lys736Arg)
c.*2010A>G (n.*2010A>G)
c.1832A>G (p.Lys611Arg)
c.744+4193A>G (n.744+4193A>G)
n.3979A>G
c.151+4193A>G
c.2105A>G (p.Lys702Arg)
c.1910A>G (p.Lys637Arg)
c.2078A>G (p.Lys693Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284335T>GCA397162943ANKRD11c.2207A>C (p.Lys736Thr)
c.*2010A>C (n.*2010A>C)
c.1832A>C (p.Lys611Thr)
c.744+4193A>C (n.744+4193A>C)
n.3979A>C
c.151+4193A>C
c.2105A>C (p.Lys702Thr)
c.1910A>C (p.Lys637Thr)
c.2078A>C (p.Lys693Thr)
16g.89284335T=CA2241602488ANKRD11c.2207A= (p.Lys736=)
c.*2010A= (n.*2010A=)
c.1832A= (p.Lys611=)
c.744+4193A= (n.744+4193A=)
n.3979A=
c.151+4193A=
c.2105A= (p.Lys702=)
c.1910A= (p.Lys637=)
c.2078A= (p.Lys693=)
16g.89284336T>ACA397162945ANKRD11c.2206A>T (p.Lys736Ter)
c.*2009A>T (n.*2009A>T)
c.1831A>T (p.Lys611Ter)
c.744+4192A>T (n.744+4192A>T)
n.3978A>T
c.151+4192A>T
c.2104A>T (p.Lys702Ter)
c.1909A>T (p.Lys637Ter)
c.2077A>T (p.Lys693Ter)
16g.89284336T>CCA397162946ANKRD11c.2206A>G (p.Lys736Glu)
c.*2009A>G (n.*2009A>G)
c.1831A>G (p.Lys611Glu)
c.744+4192A>G (n.744+4192A>G)
n.3978A>G
c.151+4192A>G
c.2104A>G (p.Lys702Glu)
c.1909A>G (p.Lys637Glu)
c.2077A>G (p.Lys693Glu)
16g.89284336T>GCA397162947ANKRD11c.2206A>C (p.Lys736Gln)
c.*2009A>C (n.*2009A>C)
c.1831A>C (p.Lys611Gln)
c.744+4192A>C (n.744+4192A>C)
n.3978A>C
c.151+4192A>C
c.2104A>C (p.Lys702Gln)
c.1909A>C (p.Lys637Gln)
c.2077A>C (p.Lys693Gln)
16g.89284337C>ACA397162948ANKRD11c.2205G>T (p.Glu735Asp)
c.*2008G>T (n.*2008G>T)
c.1830G>T (p.Glu610Asp)
c.744+4191G>T (n.744+4191G>T)
n.3977G>T
c.151+4191G>T
c.2103G>T (p.Glu701Asp)
c.1908G>T (p.Glu636Asp)
c.2076G>T (p.Glu692Asp)
 dbSNP gnomAD v2 gnomAD v4
16g.89284337C=CA2241602490ANKRD11c.2205G= (p.Glu735=)
c.*2008G= (n.*2008G=)
c.1830G= (p.Glu610=)
c.744+4191G= (n.744+4191G=)
n.3977G=
c.151+4191G=
c.2103G= (p.Glu701=)
c.1908G= (p.Glu636=)
c.2076G= (p.Glu692=)
16g.89284337C>GCA8242622ANKRD11c.2205G>C (p.Glu735Asp)
c.*2008G>C (n.*2008G>C)
c.1830G>C (p.Glu610Asp)
c.744+4191G>C (n.744+4191G>C)
n.3977G>C
c.151+4191G>C
c.2103G>C (p.Glu701Asp)
c.1908G>C (p.Glu636Asp)
c.2076G>C (p.Glu692Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284337C>TCA8242623ANKRD11c.2205G>A (p.Glu735=)
c.*2008G>A (n.*2008G>A)
c.1830G>A (p.Glu610=)
c.744+4191G>A (n.744+4191G>A)
n.3977G>A
c.151+4191G>A
c.2103G>A (p.Glu701=)
c.1908G>A (p.Glu636=)
c.2076G>A (p.Glu692=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284338T>ACA397162949ANKRD11c.2204A>T (p.Glu735Val)
c.*2007A>T (n.*2007A>T)
c.1829A>T (p.Glu610Val)
c.744+4190A>T (n.744+4190A>T)
n.3976A>T
c.151+4190A>T
c.2102A>T (p.Glu701Val)
c.1907A>T (p.Glu636Val)
c.2075A>T (p.Glu692Val)
16g.89284338T>CCA397162950ANKRD11c.2204A>G (p.Glu735Gly)
c.*2007A>G (n.*2007A>G)
c.1829A>G (p.Glu610Gly)
c.744+4190A>G (n.744+4190A>G)
n.3976A>G
c.151+4190A>G
c.2102A>G (p.Glu701Gly)
c.1907A>G (p.Glu636Gly)
c.2075A>G (p.Glu692Gly)
16g.89284338T>GCA397162951ANKRD11c.2204A>C (p.Glu735Ala)
c.*2007A>C (n.*2007A>C)
c.1829A>C (p.Glu610Ala)
c.744+4190A>C (n.744+4190A>C)
n.3976A>C
c.151+4190A>C
c.2102A>C (p.Glu701Ala)
c.1907A>C (p.Glu636Ala)
c.2075A>C (p.Glu692Ala)
16g.89284339C>ACA397162952ANKRD11c.2203G>T (p.Glu735Ter)
c.*2006G>T (n.*2006G>T)
c.1828G>T (p.Glu610Ter)
c.744+4189G>T (n.744+4189G>T)
n.3975G>T
c.151+4189G>T
c.2101G>T (p.Glu701Ter)
c.1906G>T (p.Glu636Ter)
c.2074G>T (p.Glu692Ter)
16g.89284339C>GCA397162953ANKRD11c.2203G>C (p.Glu735Gln)
c.*2006G>C (n.*2006G>C)
c.1828G>C (p.Glu610Gln)
c.744+4189G>C (n.744+4189G>C)
n.3975G>C
c.151+4189G>C
c.2101G>C (p.Glu701Gln)
c.1906G>C (p.Glu636Gln)
c.2074G>C (p.Glu692Gln)
16g.89284339C>TCA397162954ANKRD11c.2203G>A (p.Glu735Lys)
c.*2006G>A (n.*2006G>A)
c.1828G>A (p.Glu610Lys)
c.744+4189G>A (n.744+4189G>A)
n.3975G>A
c.151+4189G>A
c.2101G>A (p.Glu701Lys)
c.1906G>A (p.Glu636Lys)
c.2074G>A (p.Glu692Lys)
16g.89284340T>ACA397162955ANKRD11c.2202A>T (p.Glu734Asp)
c.*2005A>T (n.*2005A>T)
c.1827A>T (p.Glu609Asp)
c.744+4188A>T (n.744+4188A>T)
n.3974A>T
c.151+4188A>T
c.2100A>T (p.Glu700Asp)
c.1905A>T (p.Glu635Asp)
c.2073A>T (p.Glu691Asp)
 gnomAD v4
16g.89284340T>CCA497375325ANKRD11c.2202A>G (p.Glu734=)
c.*2005A>G (n.*2005A>G)
c.1827A>G (p.Glu609=)
c.744+4188A>G (n.744+4188A>G)
n.3974A>G
c.151+4188A>G
c.2100A>G (p.Glu700=)
c.1905A>G (p.Glu635=)
c.2073A>G (p.Glu691=)
 gnomAD v4
16g.89284340T>GCA397162956ANKRD11c.2202A>C (p.Glu734Asp)
c.*2005A>C (n.*2005A>C)
c.1827A>C (p.Glu609Asp)
c.744+4188A>C (n.744+4188A>C)
n.3974A>C
c.151+4188A>C
c.2100A>C (p.Glu700Asp)
c.1905A>C (p.Glu635Asp)
c.2073A>C (p.Glu691Asp)
16g.89284341T>ACA397162957ANKRD11c.2201A>T (p.Glu734Val)
c.*2004A>T (n.*2004A>T)
c.1826A>T (p.Glu609Val)
c.744+4187A>T (n.744+4187A>T)
n.3973A>T
c.151+4187A>T
c.2099A>T (p.Glu700Val)
c.1904A>T (p.Glu635Val)
c.2072A>T (p.Glu691Val)
 dbSNP gnomAD v2 gnomAD v4
16g.89284341T>CCA397162958ANKRD11c.2201A>G (p.Glu734Gly)
c.*2004A>G (n.*2004A>G)
c.1826A>G (p.Glu609Gly)
c.744+4187A>G (n.744+4187A>G)
n.3973A>G
c.151+4187A>G
c.2099A>G (p.Glu700Gly)
c.1904A>G (p.Glu635Gly)
c.2072A>G (p.Glu691Gly)
16g.89284341T>GCA397162959ANKRD11c.2201A>C (p.Glu734Ala)
c.*2004A>C (n.*2004A>C)
c.1826A>C (p.Glu609Ala)
c.744+4187A>C (n.744+4187A>C)
n.3973A>C
c.151+4187A>C
c.2099A>C (p.Glu700Ala)
c.1904A>C (p.Glu635Ala)
c.2072A>C (p.Glu691Ala)
16g.89284341T=CA2241602493ANKRD11c.2201A= (p.Glu734=)
c.*2004A= (n.*2004A=)
c.1826A= (p.Glu609=)
c.744+4187A= (n.744+4187A=)
n.3973A=
c.151+4187A=
c.2099A= (p.Glu700=)
c.1904A= (p.Glu635=)
c.2072A= (p.Glu691=)
16g.89284342C>ACA397162960ANKRD11c.2200G>T (p.Glu734Ter)
c.*2003G>T (n.*2003G>T)
c.1825G>T (p.Glu609Ter)
c.744+4186G>T (n.744+4186G>T)
n.3972G>T
c.151+4186G>T
c.2098G>T (p.Glu700Ter)
c.1903G>T (p.Glu635Ter)
c.2071G>T (p.Glu691Ter)
16g.89284342C>GCA397162961ANKRD11c.2200G>C (p.Glu734Gln)
c.*2003G>C (n.*2003G>C)
c.1825G>C (p.Glu609Gln)
c.744+4186G>C (n.744+4186G>C)
n.3972G>C
c.151+4186G>C
c.2098G>C (p.Glu700Gln)
c.1903G>C (p.Glu635Gln)
c.2071G>C (p.Glu691Gln)
16g.89284342C>TCA397162962ANKRD11c.2200G>A (p.Glu734Lys)
c.*2003G>A (n.*2003G>A)
c.1825G>A (p.Glu609Lys)
c.744+4186G>A (n.744+4186G>A)
n.3972G>A
c.151+4186G>A
c.2098G>A (p.Glu700Lys)
c.1903G>A (p.Glu635Lys)
c.2071G>A (p.Glu691Lys)
 gnomAD v4
16g.89284343T>ACA497375333ANKRD11c.2199A>T (p.Arg733=)
c.*2002A>T (n.*2002A>T)
c.1824A>T (p.Arg608=)
c.744+4185A>T (n.744+4185A>T)
n.3971A>T
c.151+4185A>T
c.2097A>T (p.Arg699=)
c.1902A>T (p.Arg634=)
c.2070A>T (p.Arg690=)
16g.89284343T>CCA497375334ANKRD11c.2199A>G (p.Arg733=)
c.*2002A>G (n.*2002A>G)
c.1824A>G (p.Arg608=)
c.744+4185A>G (n.744+4185A>G)
n.3971A>G
c.151+4185A>G
c.2097A>G (p.Arg699=)
c.1902A>G (p.Arg634=)
c.2070A>G (p.Arg690=)
16g.89284343T>GCA497375332ANKRD11c.2199A>C (p.Arg733=)
c.*2002A>C (n.*2002A>C)
c.1824A>C (p.Arg608=)
c.744+4185A>C (n.744+4185A>C)
n.3971A>C
c.151+4185A>C
c.2097A>C (p.Arg699=)
c.1902A>C (p.Arg634=)
c.2070A>C (p.Arg690=)
16g.89284344C>ACA397162963ANKRD11c.2198G>T (p.Arg733Leu)
c.*2001G>T (n.*2001G>T)
c.1823G>T (p.Arg608Leu)
c.744+4184G>T (n.744+4184G>T)
n.3970G>T
c.151+4184G>T
c.2096G>T (p.Arg699Leu)
c.1901G>T (p.Arg634Leu)
c.2069G>T (p.Arg690Leu)
16g.89284344C=CA2241602494ANKRD11c.2198G= (p.Arg733=)
c.*2001G= (n.*2001G=)
c.1823G= (p.Arg608=)
c.744+4184G= (n.744+4184G=)
n.3970G=
c.151+4184G=
c.2096G= (p.Arg699=)
c.1901G= (p.Arg634=)
c.2069G= (p.Arg690=)
16g.89284344C>GCA397162964ANKRD11c.2198G>C (p.Arg733Pro)
c.*2001G>C (n.*2001G>C)
c.1823G>C (p.Arg608Pro)
c.744+4184G>C (n.744+4184G>C)
n.3970G>C
c.151+4184G>C
c.2096G>C (p.Arg699Pro)
c.1901G>C (p.Arg634Pro)
c.2069G>C (p.Arg690Pro)
16g.89284344C>TCA8242624ANKRD11c.2198G>A (p.Arg733Gln)
c.*2001G>A (n.*2001G>A)
c.1823G>A (p.Arg608Gln)
c.744+4184G>A (n.744+4184G>A)
n.3970G>A
c.151+4184G>A
c.2096G>A (p.Arg699Gln)
c.1901G>A (p.Arg634Gln)
c.2069G>A (p.Arg690Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89284345G>ACA10603433ANKRD11c.2197C>T (p.Arg733Ter)
c.*2000C>T (n.*2000C>T)
c.1822C>T (p.Arg608Ter)
c.744+4183C>T (n.744+4183C>T)
n.3969C>T
c.151+4183C>T
c.2095C>T (p.Arg699Ter)
c.1900C>T (p.Arg634Ter)
c.2068C>T (p.Arg690Ter)
 ClinVar dbSNP
16g.89284345G>CCA397162965ANKRD11c.2197C>G (p.Arg733Gly)
c.*2000C>G (n.*2000C>G)
c.1822C>G (p.Arg608Gly)
c.744+4183C>G (n.744+4183C>G)
n.3969C>G
c.151+4183C>G
c.2095C>G (p.Arg699Gly)
c.1900C>G (p.Arg634Gly)
c.2068C>G (p.Arg690Gly)
16g.89284345G=CA2241602496ANKRD11c.2197C= (p.Arg733=)
c.*2000C= (n.*2000C=)
c.1822C= (p.Arg608=)
c.744+4183C= (n.744+4183C=)
n.3969C=
c.151+4183C=
c.2095C= (p.Arg699=)
c.1900C= (p.Arg634=)
c.2068C= (p.Arg690=)
16g.89284345G>TCA497375336ANKRD11c.2197C>A (p.Arg733=)
c.*2000C>A (n.*2000C>A)
c.1822C>A (p.Arg608=)
c.744+4183C>A (n.744+4183C>A)
n.3969C>A
c.151+4183C>A
c.2095C>A (p.Arg699=)
c.1900C>A (p.Arg634=)
c.2068C>A (p.Arg690=)
 dbSNP
16g.89284346G>ACA497375338ANKRD11c.2196C>T (p.Phe732=)
c.*1999C>T (n.*1999C>T)
c.1821C>T (p.Phe607=)
c.744+4182C>T (n.744+4182C>T)
n.3968C>T
c.151+4182C>T
c.2094C>T (p.Phe698=)
c.1899C>T (p.Phe633=)
c.2067C>T (p.Phe689=)
16g.89284346G>CCA397162966ANKRD11c.2196C>G (p.Phe732Leu)
c.*1999C>G (n.*1999C>G)
c.1821C>G (p.Phe607Leu)
c.744+4182C>G (n.744+4182C>G)
n.3968C>G
c.151+4182C>G
c.2094C>G (p.Phe698Leu)
c.1899C>G (p.Phe633Leu)
c.2067C>G (p.Phe689Leu)
16g.89284346G>TCA397162967ANKRD11c.2196C>A (p.Phe732Leu)
c.*1999C>A (n.*1999C>A)
c.1821C>A (p.Phe607Leu)
c.744+4182C>A (n.744+4182C>A)
n.3968C>A
c.151+4182C>A
c.2094C>A (p.Phe698Leu)
c.1899C>A (p.Phe633Leu)
c.2067C>A (p.Phe689Leu)
16g.89284347A>CCA397162969ANKRD11c.2195T>G (p.Phe732Cys)
c.*1998T>G (n.*1998T>G)
c.1820T>G (p.Phe607Cys)
c.744+4181T>G (n.744+4181T>G)
n.3967T>G
c.151+4181T>G
c.2093T>G (p.Phe698Cys)
c.1898T>G (p.Phe633Cys)
c.2066T>G (p.Phe689Cys)
16g.89284347A>GCA397162970ANKRD11c.2195T>C (p.Phe732Ser)
c.*1998T>C (n.*1998T>C)
c.1820T>C (p.Phe607Ser)
c.744+4181T>C (n.744+4181T>C)
n.3967T>C
c.151+4181T>C
c.2093T>C (p.Phe698Ser)
c.1898T>C (p.Phe633Ser)
c.2066T>C (p.Phe689Ser)
16g.89284347A>TCA397162968ANKRD11c.2195T>A (p.Phe732Tyr)
c.*1998T>A (n.*1998T>A)
c.1820T>A (p.Phe607Tyr)
c.744+4181T>A (n.744+4181T>A)
n.3967T>A
c.151+4181T>A
c.2093T>A (p.Phe698Tyr)
c.1898T>A (p.Phe633Tyr)
c.2066T>A (p.Phe689Tyr)

Number of alleles fetched