Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.17283327delCA2583322993ANKLE1c.563del (p.Pro188GlnfsTer?)
n.780del
c.530del (p.Pro177GlnfsTer?)
c.725del (p.Pro242GlnfsTer?)
c.*462del (n.*462del)
n.676del
c.565del
c.692del (p.Pro231GlnfsTer?)
c.629del (p.Pro210GlnfsTer?)
n.839del
c.521del (p.Pro174GlnfsTer?)
n.583del
 gnomAD v4
19g.17283326C>ACA404744771ANKLE1c.562C>A (p.Pro188Thr)
n.779C>A
c.529C>A (p.Pro177Thr)
c.724C>A (p.Pro242Thr)
c.*461C>A (n.*461C>A)
n.675C>A
c.564C>A
c.691C>A (p.Pro231Thr)
c.628C>A (p.Pro210Thr)
n.838C>A
c.520C>A (p.Pro174Thr)
n.582C>A
 gnomAD v4
19g.17283326C=CA2325780474ANKLE1c.562C= (p.Pro188=)
n.779C=
c.529C= (p.Pro177=)
c.724C= (p.Pro242=)
c.*461C= (n.*461C=)
n.675C=
c.564C=
c.691C= (p.Pro231=)
c.628C= (p.Pro210=)
n.838C=
c.520C= (p.Pro174=)
n.582C=
19g.17283326C>GCA404744772ANKLE1c.562C>G (p.Pro188Ala)
n.779C>G
c.529C>G (p.Pro177Ala)
c.724C>G (p.Pro242Ala)
c.*461C>G (n.*461C>G)
n.675C>G
c.564C>G
c.691C>G (p.Pro231Ala)
c.628C>G (p.Pro210Ala)
n.838C>G
c.520C>G (p.Pro174Ala)
n.582C>G
19g.17283326C>TCA9291135ANKLE1c.562C>T (p.Pro188Ser)
n.779C>T
c.529C>T (p.Pro177Ser)
c.724C>T (p.Pro242Ser)
c.*461C>T (n.*461C>T)
n.675C>T
c.564C>T
c.691C>T (p.Pro231Ser)
c.628C>T (p.Pro210Ser)
n.838C>T
c.520C>T (p.Pro174Ser)
n.582C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283327C>ACA404744773ANKLE1c.563C>A (p.Pro188Gln)
n.780C>A
c.530C>A (p.Pro177Gln)
c.725C>A (p.Pro242Gln)
c.*462C>A (n.*462C>A)
n.676C>A
c.565C>A
c.692C>A (p.Pro231Gln)
c.629C>A (p.Pro210Gln)
n.839C>A
c.521C>A (p.Pro174Gln)
n.583C>A
19g.17283327C=CA2325780475ANKLE1c.563C= (p.Pro188=)
n.780C=
c.530C= (p.Pro177=)
c.725C= (p.Pro242=)
c.*462C= (n.*462C=)
n.676C=
c.565C=
c.692C= (p.Pro231=)
c.629C= (p.Pro210=)
n.839C=
c.521C= (p.Pro174=)
n.583C=
19g.17283327C>GCA404744774ANKLE1c.563C>G (p.Pro188Arg)
n.780C>G
c.530C>G (p.Pro177Arg)
c.725C>G (p.Pro242Arg)
c.*462C>G (n.*462C>G)
n.676C>G
c.565C>G
c.692C>G (p.Pro231Arg)
c.629C>G (p.Pro210Arg)
n.839C>G
c.521C>G (p.Pro174Arg)
n.583C>G
19g.17283327C>TCA306086227ANKLE1c.563C>T (p.Pro188Leu)
n.780C>T
c.530C>T (p.Pro177Leu)
c.725C>T (p.Pro242Leu)
c.*462C>T (n.*462C>T)
n.676C>T
c.565C>T
c.692C>T (p.Pro231Leu)
c.629C>T (p.Pro210Leu)
n.839C>T
c.521C>T (p.Pro174Leu)
n.583C>T
 dbSNP gnomAD v3 gnomAD v4
19g.17283328A>CCA506095593ANKLE1c.564A>C (p.Pro188=)
n.781A>C
c.531A>C (p.Pro177=)
c.726A>C (p.Pro242=)
c.*463A>C (n.*463A>C)
n.677A>C
c.566A>C
c.693A>C (p.Pro231=)
c.630A>C (p.Pro210=)
n.840A>C
c.522A>C (p.Pro174=)
n.584A>C
19g.17283328A>GCA506095595ANKLE1c.564A>G (p.Pro188=)
n.781A>G
c.531A>G (p.Pro177=)
c.726A>G (p.Pro242=)
c.*463A>G (n.*463A>G)
n.677A>G
c.566A>G
c.693A>G (p.Pro231=)
c.630A>G (p.Pro210=)
n.840A>G
c.522A>G (p.Pro174=)
n.584A>G
19g.17283328A>TCA506095594ANKLE1c.564A>T (p.Pro188=)
n.781A>T
c.531A>T (p.Pro177=)
c.726A>T (p.Pro242=)
c.*463A>T (n.*463A>T)
n.677A>T
c.566A>T
c.693A>T (p.Pro231=)
c.630A>T (p.Pro210=)
n.840A>T
c.522A>T (p.Pro174=)
n.584A>T
19g.17283329G>ACA9291136ANKLE1c.565G>A (p.Gly189Arg)
n.782G>A
c.532G>A (p.Gly178Arg)
c.727G>A (p.Gly243Arg)
c.*464G>A (n.*464G>A)
n.678G>A
c.567G>A
c.694G>A (p.Gly232Arg)
c.631G>A (p.Gly211Arg)
n.841G>A
c.523G>A (p.Gly175Arg)
n.585G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283329G>CCA404744775ANKLE1c.565G>C (p.Gly189Arg)
n.782G>C
c.532G>C (p.Gly178Arg)
c.727G>C (p.Gly243Arg)
c.*464G>C (n.*464G>C)
n.678G>C
c.567G>C
c.694G>C (p.Gly232Arg)
c.631G>C (p.Gly211Arg)
n.841G>C
c.523G>C (p.Gly175Arg)
n.585G>C
19g.17283329G=CA2325780476ANKLE1c.565G= (p.Gly189=)
n.782G=
c.532G= (p.Gly178=)
c.727G= (p.Gly243=)
c.*464G= (n.*464G=)
n.678G=
c.567G=
c.694G= (p.Gly232=)
c.631G= (p.Gly211=)
n.841G=
c.523G= (p.Gly175=)
n.585G=
19g.17283329G>TCA404744776ANKLE1c.565G>T (p.Gly189Ter)
n.782G>T
c.532G>T (p.Gly178Ter)
c.727G>T (p.Gly243Ter)
c.*464G>T (n.*464G>T)
n.678G>T
c.567G>T
c.694G>T (p.Gly232Ter)
c.631G>T (p.Gly211Ter)
n.841G>T
c.523G>T (p.Gly175Ter)
n.585G>T
19g.17283330G>ACA9291137ANKLE1c.566G>A (p.Gly189Glu)
n.783G>A
c.533G>A (p.Gly178Glu)
c.728G>A (p.Gly243Glu)
c.*465G>A (n.*465G>A)
n.679G>A
c.568G>A
c.695G>A (p.Gly232Glu)
c.632G>A (p.Gly211Glu)
n.842G>A
c.524G>A (p.Gly175Glu)
n.586G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283330G>CCA404744777ANKLE1c.566G>C (p.Gly189Ala)
n.783G>C
c.533G>C (p.Gly178Ala)
c.728G>C (p.Gly243Ala)
c.*465G>C (n.*465G>C)
n.679G>C
c.568G>C
c.695G>C (p.Gly232Ala)
c.632G>C (p.Gly211Ala)
n.842G>C
c.524G>C (p.Gly175Ala)
n.586G>C
19g.17283330G=CA2325780477ANKLE1c.566G= (p.Gly189=)
n.783G=
c.533G= (p.Gly178=)
c.728G= (p.Gly243=)
c.*465G= (n.*465G=)
n.679G=
c.568G=
c.695G= (p.Gly232=)
c.632G= (p.Gly211=)
n.842G=
c.524G= (p.Gly175=)
n.586G=
19g.17283330G>TCA404744778ANKLE1c.566G>T (p.Gly189Val)
n.783G>T
c.533G>T (p.Gly178Val)
c.728G>T (p.Gly243Val)
c.*465G>T (n.*465G>T)
n.679G>T
c.568G>T
c.695G>T (p.Gly232Val)
c.632G>T (p.Gly211Val)
n.842G>T
c.524G>T (p.Gly175Val)
n.586G>T
19g.17283331A=CA2325780478ANKLE1c.567A= (p.Gly189=)
n.784A=
c.534A= (p.Gly178=)
c.729A= (p.Gly243=)
c.*466A= (n.*466A=)
n.680A=
c.569A=
c.696A= (p.Gly232=)
c.633A= (p.Gly211=)
n.843A=
c.525A= (p.Gly175=)
n.587A=
19g.17283331A>CCA506095596ANKLE1c.567A>C (p.Gly189=)
n.784A>C
c.534A>C (p.Gly178=)
c.729A>C (p.Gly243=)
c.*466A>C (n.*466A>C)
n.680A>C
c.569A>C
c.696A>C (p.Gly232=)
c.633A>C (p.Gly211=)
n.843A>C
c.525A>C (p.Gly175=)
n.587A>C
 dbSNP gnomAD v4
19g.17283331A>GCA506095597ANKLE1c.567A>G (p.Gly189=)
n.784A>G
c.534A>G (p.Gly178=)
c.729A>G (p.Gly243=)
c.*466A>G (n.*466A>G)
n.680A>G
c.569A>G
c.696A>G (p.Gly232=)
c.633A>G (p.Gly211=)
n.843A>G
c.525A>G (p.Gly175=)
n.587A>G
19g.17283331A>TCA506095598ANKLE1c.567A>T (p.Gly189=)
n.784A>T
c.534A>T (p.Gly178=)
c.729A>T (p.Gly243=)
c.*466A>T (n.*466A>T)
n.680A>T
c.569A>T
c.696A>T (p.Gly232=)
c.633A>T (p.Gly211=)
n.843A>T
c.525A>T (p.Gly175=)
n.587A>T
 gnomAD v4
19g.17283332C>ACA404744779ANKLE1c.568C>A (p.Pro190Thr)
n.785C>A
c.535C>A (p.Pro179Thr)
c.730C>A (p.Pro244Thr)
c.*467C>A (n.*467C>A)
n.681C>A
c.570C>A
c.697C>A (p.Pro233Thr)
c.634C>A (p.Pro212Thr)
n.844C>A
c.526C>A (p.Pro176Thr)
n.588C>A
19g.17283332C=CA2325780479ANKLE1c.568C= (p.Pro190=)
n.785C=
c.535C= (p.Pro179=)
c.730C= (p.Pro244=)
c.*467C= (n.*467C=)
n.681C=
c.570C=
c.697C= (p.Pro233=)
c.634C= (p.Pro212=)
n.844C=
c.526C= (p.Pro176=)
n.588C=
19g.17283332C>GCA404744781ANKLE1c.568C>G (p.Pro190Ala)
n.785C>G
c.535C>G (p.Pro179Ala)
c.730C>G (p.Pro244Ala)
c.*467C>G (n.*467C>G)
n.681C>G
c.570C>G
c.697C>G (p.Pro233Ala)
c.634C>G (p.Pro212Ala)
n.844C>G
c.526C>G (p.Pro176Ala)
n.588C>G
 dbSNP gnomAD v2 gnomAD v4
19g.17283332C>TCA404744780ANKLE1c.568C>T (p.Pro190Ser)
n.785C>T
c.535C>T (p.Pro179Ser)
c.730C>T (p.Pro244Ser)
c.*467C>T (n.*467C>T)
n.681C>T
c.570C>T
c.697C>T (p.Pro233Ser)
c.634C>T (p.Pro212Ser)
n.844C>T
c.526C>T (p.Pro176Ser)
n.588C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17283337dupCA9291138ANKLE1c.573dup (p.Ser192GlnfsTer7)
n.790dup
c.540dup (p.Ser181GlnfsTer7)
c.735dup (p.Ser246GlnfsTer7)
c.*472dup (n.*472dup)
n.686dup
c.575dup
c.702dup (p.Ser235GlnfsTer7)
c.639dup (p.Ser214GlnfsTer7)
n.849dup
c.531dup (p.Ser178GlnfsTer7)
n.593dup
 dbSNP ExAC gnomAD v4
19g.17283336_17283337dupCA2813794836ANKLE1c.572_573dup (p.Ser192ProfsTer?)
n.789_790dup
c.539_540dup (p.Ser181ProfsTer?)
c.734_735dup (p.Ser246ProfsTer?)
c.*471_*472dup (n.*471_*472dup)
n.685_686dup
c.574_575dup
c.701_702dup (p.Ser235ProfsTer?)
c.638_639dup (p.Ser214ProfsTer?)
n.848_849dup
c.530_531dup (p.Ser178ProfsTer?)
n.592_593dup
19g.17283337delCA2583322994ANKLE1c.573del (p.Ser192AlafsTer?)
n.790del
c.540del (p.Ser181AlafsTer?)
c.735del (p.Ser246AlafsTer?)
c.*472del (n.*472del)
n.686del
c.575del
c.702del (p.Ser235AlafsTer?)
c.639del (p.Ser214AlafsTer?)
n.849del
c.531del (p.Ser178AlafsTer?)
n.593del
 gnomAD v4
19g.17283333C>ACA404744783ANKLE1c.569C>A (p.Pro190His)
n.786C>A
c.536C>A (p.Pro179His)
c.731C>A (p.Pro244His)
c.*468C>A (n.*468C>A)
n.682C>A
c.571C>A
c.698C>A (p.Pro233His)
c.635C>A (p.Pro212His)
n.845C>A
c.527C>A (p.Pro176His)
n.589C>A
 gnomAD v4
19g.17283333C=CA2325780480ANKLE1c.569C= (p.Pro190=)
n.786C=
c.536C= (p.Pro179=)
c.731C= (p.Pro244=)
c.*468C= (n.*468C=)
n.682C=
c.571C=
c.698C= (p.Pro233=)
c.635C= (p.Pro212=)
n.845C=
c.527C= (p.Pro176=)
n.589C=
19g.17283333C>GCA404744782ANKLE1c.569C>G (p.Pro190Arg)
n.786C>G
c.536C>G (p.Pro179Arg)
c.731C>G (p.Pro244Arg)
c.*468C>G (n.*468C>G)
n.682C>G
c.571C>G
c.698C>G (p.Pro233Arg)
c.635C>G (p.Pro212Arg)
n.845C>G
c.527C>G (p.Pro176Arg)
n.589C>G
19g.17283333C>TCA404744784ANKLE1c.569C>T (p.Pro190Leu)
n.786C>T
c.536C>T (p.Pro179Leu)
c.731C>T (p.Pro244Leu)
c.*468C>T (n.*468C>T)
n.682C>T
c.571C>T
c.698C>T (p.Pro233Leu)
c.635C>T (p.Pro212Leu)
n.845C>T
c.527C>T (p.Pro176Leu)
n.589C>T
 dbSNP gnomAD v4
19g.17283334C>ACA506095600ANKLE1c.570C>A (p.Pro190=)
n.787C>A
c.537C>A (p.Pro179=)
c.732C>A (p.Pro244=)
c.*469C>A (n.*469C>A)
n.683C>A
c.572C>A
c.699C>A (p.Pro233=)
c.636C>A (p.Pro212=)
n.846C>A
c.528C>A (p.Pro176=)
n.590C>A
19g.17283334C=CA2325780481ANKLE1c.570C= (p.Pro190=)
n.787C=
c.537C= (p.Pro179=)
c.732C= (p.Pro244=)
c.*469C= (n.*469C=)
n.683C=
c.572C=
c.699C= (p.Pro233=)
c.636C= (p.Pro212=)
n.846C=
c.528C= (p.Pro176=)
n.590C=
19g.17283334C>GCA506095601ANKLE1c.570C>G (p.Pro190=)
n.787C>G
c.537C>G (p.Pro179=)
c.732C>G (p.Pro244=)
c.*469C>G (n.*469C>G)
n.683C>G
c.572C>G
c.699C>G (p.Pro233=)
c.636C>G (p.Pro212=)
n.846C>G
c.528C>G (p.Pro176=)
n.590C>G
19g.17283334C>TCA9291139ANKLE1c.570C>T (p.Pro190=)
n.787C>T
c.537C>T (p.Pro179=)
c.732C>T (p.Pro244=)
c.*469C>T (n.*469C>T)
n.683C>T
c.572C>T
c.699C>T (p.Pro233=)
c.636C>T (p.Pro212=)
n.846C>T
c.528C>T (p.Pro176=)
n.590C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283335C>ACA404744785ANKLE1c.571C>A (p.Pro191Thr)
n.788C>A
c.538C>A (p.Pro180Thr)
c.733C>A (p.Pro245Thr)
c.*470C>A (n.*470C>A)
n.684C>A
c.573C>A
c.700C>A (p.Pro234Thr)
c.637C>A (p.Pro213Thr)
n.847C>A
c.529C>A (p.Pro177Thr)
n.591C>A
19g.17283335C=CA2325780482ANKLE1c.571C= (p.Pro191=)
n.788C=
c.538C= (p.Pro180=)
c.733C= (p.Pro245=)
c.*470C= (n.*470C=)
n.684C=
c.573C=
c.700C= (p.Pro234=)
c.637C= (p.Pro213=)
n.847C=
c.529C= (p.Pro177=)
n.591C=
19g.17283335C>GCA404744786ANKLE1c.571C>G (p.Pro191Ala)
n.788C>G
c.538C>G (p.Pro180Ala)
c.733C>G (p.Pro245Ala)
c.*470C>G (n.*470C>G)
n.684C>G
c.573C>G
c.700C>G (p.Pro234Ala)
c.637C>G (p.Pro213Ala)
n.847C>G
c.529C>G (p.Pro177Ala)
n.591C>G
19g.17283335C>TCA404744787ANKLE1c.571C>T (p.Pro191Ser)
n.788C>T
c.538C>T (p.Pro180Ser)
c.733C>T (p.Pro245Ser)
c.*470C>T (n.*470C>T)
n.684C>T
c.573C>T
c.700C>T (p.Pro234Ser)
c.637C>T (p.Pro213Ser)
n.847C>T
c.529C>T (p.Pro177Ser)
n.591C>T
 dbSNP gnomAD v4
19g.17283336C>ACA404744788ANKLE1c.572C>A (p.Pro191His)
n.789C>A
c.539C>A (p.Pro180His)
c.734C>A (p.Pro245His)
c.*471C>A (n.*471C>A)
n.685C>A
c.574C>A
c.701C>A (p.Pro234His)
c.638C>A (p.Pro213His)
n.848C>A
c.530C>A (p.Pro177His)
n.592C>A
19g.17283336C>GCA404744789ANKLE1c.572C>G (p.Pro191Arg)
n.789C>G
c.539C>G (p.Pro180Arg)
c.734C>G (p.Pro245Arg)
c.*471C>G (n.*471C>G)
n.685C>G
c.574C>G
c.701C>G (p.Pro234Arg)
c.638C>G (p.Pro213Arg)
n.848C>G
c.530C>G (p.Pro177Arg)
n.592C>G
19g.17283336C>TCA404744790ANKLE1c.572C>T (p.Pro191Leu)
n.789C>T
c.539C>T (p.Pro180Leu)
c.734C>T (p.Pro245Leu)
c.*471C>T (n.*471C>T)
n.685C>T
c.574C>T
c.701C>T (p.Pro234Leu)
c.638C>T (p.Pro213Leu)
n.848C>T
c.530C>T (p.Pro177Leu)
n.592C>T
19g.17283337C>ACA506095606ANKLE1c.573C>A (p.Pro191=)
n.790C>A
c.540C>A (p.Pro180=)
c.735C>A (p.Pro245=)
c.*472C>A (n.*472C>A)
n.686C>A
c.575C>A
c.702C>A (p.Pro234=)
c.639C>A (p.Pro213=)
n.849C>A
c.531C>A (p.Pro177=)
n.593C>A
19g.17283337C>GCA506095604ANKLE1c.573C>G (p.Pro191=)
n.790C>G
c.540C>G (p.Pro180=)
c.735C>G (p.Pro245=)
c.*472C>G (n.*472C>G)
n.686C>G
c.575C>G
c.702C>G (p.Pro234=)
c.639C>G (p.Pro213=)
n.849C>G
c.531C>G (p.Pro177=)
n.593C>G
19g.17283337C>TCA506095603ANKLE1c.573C>T (p.Pro191=)
n.790C>T
c.540C>T (p.Pro180=)
c.735C>T (p.Pro245=)
c.*472C>T (n.*472C>T)
n.686C>T
c.575C>T
c.702C>T (p.Pro234=)
c.639C>T (p.Pro213=)
n.849C>T
c.531C>T (p.Pro177=)
n.593C>T
19g.17283338A>CCA404744791ANKLE1c.574A>C (p.Ser192Arg)
n.791A>C
c.541A>C (p.Ser181Arg)
c.736A>C (p.Ser246Arg)
c.*473A>C (n.*473A>C)
n.687A>C
c.576A>C
c.703A>C (p.Ser235Arg)
c.640A>C (p.Ser214Arg)
n.850A>C
c.532A>C (p.Ser178Arg)
n.594A>C
19g.17283338A>GCA404744792ANKLE1c.574A>G (p.Ser192Gly)
n.791A>G
c.541A>G (p.Ser181Gly)
c.736A>G (p.Ser246Gly)
c.*473A>G (n.*473A>G)
n.687A>G
c.576A>G
c.703A>G (p.Ser235Gly)
c.640A>G (p.Ser214Gly)
n.850A>G
c.532A>G (p.Ser178Gly)
n.594A>G
19g.17283338A>TCA404744793ANKLE1c.574A>T (p.Ser192Cys)
n.791A>T
c.541A>T (p.Ser181Cys)
c.736A>T (p.Ser246Cys)
c.*473A>T (n.*473A>T)
n.687A>T
c.576A>T
c.703A>T (p.Ser235Cys)
c.640A>T (p.Ser214Cys)
n.850A>T
c.532A>T (p.Ser178Cys)
n.594A>T
19g.17283339G>ACA404744796ANKLE1c.575G>A (p.Ser192Asn)
n.792G>A
c.542G>A (p.Ser181Asn)
c.737G>A (p.Ser246Asn)
c.*474G>A (n.*474G>A)
n.688G>A
c.577G>A
c.704G>A (p.Ser235Asn)
c.641G>A (p.Ser214Asn)
n.851G>A
c.533G>A (p.Ser178Asn)
n.595G>A
19g.17283339G>CCA404744795ANKLE1c.575G>C (p.Ser192Thr)
n.792G>C
c.542G>C (p.Ser181Thr)
c.737G>C (p.Ser246Thr)
c.*474G>C (n.*474G>C)
n.688G>C
c.577G>C
c.704G>C (p.Ser235Thr)
c.641G>C (p.Ser214Thr)
n.851G>C
c.533G>C (p.Ser178Thr)
n.595G>C
19g.17283339G>TCA404744794ANKLE1c.575G>T (p.Ser192Ile)
n.792G>T
c.542G>T (p.Ser181Ile)
c.737G>T (p.Ser246Ile)
c.*474G>T (n.*474G>T)
n.688G>T
c.577G>T
c.704G>T (p.Ser235Ile)
c.641G>T (p.Ser214Ile)
n.851G>T
c.533G>T (p.Ser178Ile)
n.595G>T
19g.17283340C>ACA404744797ANKLE1c.576C>A (p.Ser192Arg)
n.793C>A
c.543C>A (p.Ser181Arg)
c.738C>A (p.Ser246Arg)
c.*475C>A (n.*475C>A)
n.689C>A
c.578C>A
c.705C>A (p.Ser235Arg)
c.642C>A (p.Ser214Arg)
n.852C>A
c.534C>A (p.Ser178Arg)
n.596C>A
 COSMIC COSMIC COSMIC
19g.17283340C=CA2325780483ANKLE1c.576C= (p.Ser192=)
n.793C=
c.543C= (p.Ser181=)
c.738C= (p.Ser246=)
c.*475C= (n.*475C=)
n.689C=
c.578C=
c.705C= (p.Ser235=)
c.642C= (p.Ser214=)
n.852C=
c.534C= (p.Ser178=)
n.596C=
19g.17283340C>GCA9291140ANKLE1c.576C>G (p.Ser192Arg)
n.793C>G
c.543C>G (p.Ser181Arg)
c.738C>G (p.Ser246Arg)
c.*475C>G (n.*475C>G)
n.689C>G
c.578C>G
c.705C>G (p.Ser235Arg)
c.642C>G (p.Ser214Arg)
n.852C>G
c.534C>G (p.Ser178Arg)
n.596C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283340C>TCA9291141ANKLE1c.576C>T (p.Ser192=)
n.793C>T
c.543C>T (p.Ser181=)
c.738C>T (p.Ser246=)
c.*475C>T (n.*475C>T)
n.689C>T
c.578C>T
c.705C>T (p.Ser235=)
c.642C>T (p.Ser214=)
n.852C>T
c.534C>T (p.Ser178=)
n.596C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283341C>ACA404744798ANKLE1c.577C>A (p.Leu193Ile)
n.794C>A
c.544C>A (p.Leu182Ile)
c.739C>A (p.Leu247Ile)
c.*476C>A (n.*476C>A)
n.690C>A
c.579C>A
c.706C>A (p.Leu236Ile)
c.643C>A (p.Leu215Ile)
n.853C>A
c.535C>A (p.Leu179Ile)
n.597C>A
19g.17283341C=CA2325780484ANKLE1c.577C= (p.Leu193=)
n.794C=
c.544C= (p.Leu182=)
c.739C= (p.Leu247=)
c.*476C= (n.*476C=)
n.690C=
c.579C=
c.706C= (p.Leu236=)
c.643C= (p.Leu215=)
n.853C=
c.535C= (p.Leu179=)
n.597C=
19g.17283341C>GCA404744799ANKLE1c.577C>G (p.Leu193Val)
n.794C>G
c.544C>G (p.Leu182Val)
c.739C>G (p.Leu247Val)
c.*476C>G (n.*476C>G)
n.690C>G
c.579C>G
c.706C>G (p.Leu236Val)
c.643C>G (p.Leu215Val)
n.853C>G
c.535C>G (p.Leu179Val)
n.597C>G
19g.17283341C>TCA404744800ANKLE1c.577C>T (p.Leu193Phe)
n.794C>T
c.544C>T (p.Leu182Phe)
c.739C>T (p.Leu247Phe)
c.*476C>T (n.*476C>T)
n.690C>T
c.579C>T
c.706C>T (p.Leu236Phe)
c.643C>T (p.Leu215Phe)
n.853C>T
c.535C>T (p.Leu179Phe)
n.597C>T
 dbSNP
19g.17283342T>ACA306086255ANKLE1c.578T>A (p.Leu193His)
n.795T>A
c.545T>A (p.Leu182His)
c.740T>A (p.Leu247His)
c.*477T>A (n.*477T>A)
n.691T>A
c.580T>A
c.707T>A (p.Leu236His)
c.644T>A (p.Leu215His)
n.854T>A
c.536T>A (p.Leu179His)
n.598T>A
 dbSNP gnomAD v4
19g.17283342T>CCA404744801ANKLE1c.578T>C (p.Leu193Pro)
n.795T>C
c.545T>C (p.Leu182Pro)
c.740T>C (p.Leu247Pro)
c.*477T>C (n.*477T>C)
n.691T>C
c.580T>C
c.707T>C (p.Leu236Pro)
c.644T>C (p.Leu215Pro)
n.854T>C
c.536T>C (p.Leu179Pro)
n.598T>C
19g.17283342T>GCA404744802ANKLE1c.578T>G (p.Leu193Arg)
n.795T>G
c.545T>G (p.Leu182Arg)
c.740T>G (p.Leu247Arg)
c.*477T>G (n.*477T>G)
n.691T>G
c.580T>G
c.707T>G (p.Leu236Arg)
c.644T>G (p.Leu215Arg)
n.854T>G
c.536T>G (p.Leu179Arg)
n.598T>G
19g.17283342T=CA2325780485ANKLE1c.578T= (p.Leu193=)
n.795T=
c.545T= (p.Leu182=)
c.740T= (p.Leu247=)
c.*477T= (n.*477T=)
n.691T=
c.580T=
c.707T= (p.Leu236=)
c.644T= (p.Leu215=)
n.854T=
c.536T= (p.Leu179=)
n.598T=
19g.17283343C>ACA506095610ANKLE1c.579C>A (p.Leu193=)
n.796C>A
c.546C>A (p.Leu182=)
c.741C>A (p.Leu247=)
c.*478C>A (n.*478C>A)
n.692C>A
c.581C>A
c.708C>A (p.Leu236=)
c.645C>A (p.Leu215=)
n.855C>A
c.537C>A (p.Leu179=)
n.599C>A
19g.17283343C>GCA506095611ANKLE1c.579C>G (p.Leu193=)
n.796C>G
c.546C>G (p.Leu182=)
c.741C>G (p.Leu247=)
c.*478C>G (n.*478C>G)
n.692C>G
c.581C>G
c.708C>G (p.Leu236=)
c.645C>G (p.Leu215=)
n.855C>G
c.537C>G (p.Leu179=)
n.599C>G
19g.17283343C>TCA506095612ANKLE1c.579C>T (p.Leu193=)
n.796C>T
c.546C>T (p.Leu182=)
c.741C>T (p.Leu247=)
c.*478C>T (n.*478C>T)
n.692C>T
c.581C>T
c.708C>T (p.Leu236=)
c.645C>T (p.Leu215=)
n.855C>T
c.537C>T (p.Leu179=)
n.599C>T
19g.17283344C>ACA404744803ANKLE1c.580C>A (p.Pro194Thr)
n.797C>A
c.547C>A (p.Pro183Thr)
c.742C>A (p.Pro248Thr)
c.*479C>A (n.*479C>A)
n.693C>A
c.582C>A
c.709C>A (p.Pro237Thr)
c.646C>A (p.Pro216Thr)
n.856C>A
c.538C>A (p.Pro180Thr)
n.600C>A
19g.17283344C=CA2325780486ANKLE1c.580C= (p.Pro194=)
n.797C=
c.547C= (p.Pro183=)
c.742C= (p.Pro248=)
c.*479C= (n.*479C=)
n.693C=
c.582C=
c.709C= (p.Pro237=)
c.646C= (p.Pro216=)
n.856C=
c.538C= (p.Pro180=)
n.600C=
19g.17283344C>GCA404744804ANKLE1c.580C>G (p.Pro194Ala)
n.797C>G
c.547C>G (p.Pro183Ala)
c.742C>G (p.Pro248Ala)
c.*479C>G (n.*479C>G)
n.693C>G
c.582C>G
c.709C>G (p.Pro237Ala)
c.646C>G (p.Pro216Ala)
n.856C>G
c.538C>G (p.Pro180Ala)
n.600C>G
19g.17283344C>TCA404744805ANKLE1c.580C>T (p.Pro194Ser)
n.797C>T
c.547C>T (p.Pro183Ser)
c.742C>T (p.Pro248Ser)
c.*479C>T (n.*479C>T)
n.693C>T
c.582C>T
c.709C>T (p.Pro237Ser)
c.646C>T (p.Pro216Ser)
n.856C>T
c.538C>T (p.Pro180Ser)
n.600C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17283345C>ACA404744807ANKLE1c.581C>A (p.Pro194His)
n.798C>A
c.548C>A (p.Pro183His)
c.743C>A (p.Pro248His)
c.*480C>A (n.*480C>A)
n.694C>A
c.583C>A
c.710C>A (p.Pro237His)
c.647C>A (p.Pro216His)
n.857C>A
c.539C>A (p.Pro180His)
n.601C>A
19g.17283345C>GCA404744808ANKLE1c.581C>G (p.Pro194Arg)
n.798C>G
c.548C>G (p.Pro183Arg)
c.743C>G (p.Pro248Arg)
c.*480C>G (n.*480C>G)
n.694C>G
c.583C>G
c.710C>G (p.Pro237Arg)
c.647C>G (p.Pro216Arg)
n.857C>G
c.539C>G (p.Pro180Arg)
n.601C>G
19g.17283345C>TCA404744806ANKLE1c.581C>T (p.Pro194Leu)
n.798C>T
c.548C>T (p.Pro183Leu)
c.743C>T (p.Pro248Leu)
c.*480C>T (n.*480C>T)
n.694C>T
c.583C>T
c.710C>T (p.Pro237Leu)
c.647C>T (p.Pro216Leu)
n.857C>T
c.539C>T (p.Pro180Leu)
n.601C>T
19g.17283346T>ACA506095613ANKLE1c.582T>A (p.Pro194=)
n.799T>A
c.549T>A (p.Pro183=)
c.744T>A (p.Pro248=)
c.*481T>A (n.*481T>A)
n.695T>A
c.584T>A
c.711T>A (p.Pro237=)
c.648T>A (p.Pro216=)
n.858T>A
c.540T>A (p.Pro180=)
n.602T>A
19g.17283346T>CCA506095614ANKLE1c.582T>C (p.Pro194=)
n.799T>C
c.549T>C (p.Pro183=)
c.744T>C (p.Pro248=)
c.*481T>C (n.*481T>C)
n.695T>C
c.584T>C
c.711T>C (p.Pro237=)
c.648T>C (p.Pro216=)
n.858T>C
c.540T>C (p.Pro180=)
n.602T>C
19g.17283346T>GCA506095616ANKLE1c.582T>G (p.Pro194=)
n.799T>G
c.549T>G (p.Pro183=)
c.744T>G (p.Pro248=)
c.*481T>G (n.*481T>G)
n.695T>G
c.584T>G
c.711T>G (p.Pro237=)
c.648T>G (p.Pro216=)
n.858T>G
c.540T>G (p.Pro180=)
n.602T>G
19g.17283347G>ACA404744809ANKLE1c.583G>A (p.Val195Ile)
n.800G>A
c.550G>A (p.Val184Ile)
c.745G>A (p.Val249Ile)
c.*482G>A (n.*482G>A)
n.696G>A
c.585G>A
c.712G>A (p.Val238Ile)
c.649G>A (p.Val217Ile)
n.859G>A
c.541G>A (p.Val181Ile)
n.603G>A
19g.17283347G>CCA404744810ANKLE1c.583G>C (p.Val195Leu)
n.800G>C
c.550G>C (p.Val184Leu)
c.745G>C (p.Val249Leu)
c.*482G>C (n.*482G>C)
n.696G>C
c.585G>C
c.712G>C (p.Val238Leu)
c.649G>C (p.Val217Leu)
n.859G>C
c.541G>C (p.Val181Leu)
n.603G>C
19g.17283347G>TCA404744811ANKLE1c.583G>T (p.Val195Phe)
n.800G>T
c.550G>T (p.Val184Phe)
c.745G>T (p.Val249Phe)
c.*482G>T (n.*482G>T)
n.696G>T
c.585G>T
c.712G>T (p.Val238Phe)
c.649G>T (p.Val217Phe)
n.859G>T
c.541G>T (p.Val181Phe)
n.603G>T
19g.17283348T>ACA9291142ANKLE1c.584T>A (p.Val195Asp)
n.801T>A
c.551T>A (p.Val184Asp)
c.746T>A (p.Val249Asp)
c.*483T>A (n.*483T>A)
n.697T>A
c.586T>A
c.713T>A (p.Val238Asp)
c.650T>A (p.Val217Asp)
n.860T>A
c.542T>A (p.Val181Asp)
n.604T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283348T>CCA404744812ANKLE1c.584T>C (p.Val195Ala)
n.801T>C
c.551T>C (p.Val184Ala)
c.746T>C (p.Val249Ala)
c.*483T>C (n.*483T>C)
n.697T>C
c.586T>C
c.713T>C (p.Val238Ala)
c.650T>C (p.Val217Ala)
n.860T>C
c.542T>C (p.Val181Ala)
n.604T>C
19g.17283348T>GCA404744813ANKLE1c.584T>G (p.Val195Gly)
n.801T>G
c.551T>G (p.Val184Gly)
c.746T>G (p.Val249Gly)
c.*483T>G (n.*483T>G)
n.697T>G
c.586T>G
c.713T>G (p.Val238Gly)
c.650T>G (p.Val217Gly)
n.860T>G
c.542T>G (p.Val181Gly)
n.604T>G
19g.17283348T=CA2325780487ANKLE1c.584T= (p.Val195=)
n.801T=
c.551T= (p.Val184=)
c.746T= (p.Val249=)
c.*483T= (n.*483T=)
n.697T=
c.586T=
c.713T= (p.Val238=)
c.650T= (p.Val217=)
n.860T=
c.542T= (p.Val181=)
n.604T=
19g.17283349T>ACA506095619ANKLE1c.585T>A (p.Val195=)
n.802T>A
c.552T>A (p.Val184=)
c.747T>A (p.Val249=)
c.*484T>A (n.*484T>A)
n.698T>A
c.587T>A
c.714T>A (p.Val238=)
c.651T>A (p.Val217=)
n.861T>A
c.543T>A (p.Val181=)
n.605T>A
19g.17283349T>CCA506095620ANKLE1c.585T>C (p.Val195=)
n.802T>C
c.552T>C (p.Val184=)
c.747T>C (p.Val249=)
c.*484T>C (n.*484T>C)
n.698T>C
c.587T>C
c.714T>C (p.Val238=)
c.651T>C (p.Val217=)
n.861T>C
c.543T>C (p.Val181=)
n.605T>C
 dbSNP gnomAD v3 gnomAD v4
19g.17283349T>GCA506095622ANKLE1c.585T>G (p.Val195=)
n.802T>G
c.552T>G (p.Val184=)
c.747T>G (p.Val249=)
c.*484T>G (n.*484T>G)
n.698T>G
c.587T>G
c.714T>G (p.Val238=)
c.651T>G (p.Val217=)
n.861T>G
c.543T>G (p.Val181=)
n.605T>G
19g.17283349T=CA2325780488ANKLE1c.585T= (p.Val195=)
n.802T=
c.552T= (p.Val184=)
c.747T= (p.Val249=)
c.*484T= (n.*484T=)
n.698T=
c.587T=
c.714T= (p.Val238=)
c.651T= (p.Val217=)
n.861T=
c.543T= (p.Val181=)
n.605T=
19g.17283349_17283350delinsTCCA2325780489ANKLE1c.585_586delinsTC (p.Val195=)
n.802_803delinsTC
c.552_553delinsTC (p.Val184=)
c.747_748delinsTC (p.Val249=)
c.*484_*485delinsTC (n.*484_*485delinsTC)
n.698_699delinsTC
c.587_588delinsTC
c.714_715delinsTC (p.Val238=)
c.651_652delinsTC (p.Val217=)
n.861_862delinsTC
c.543_544delinsTC (p.Val181=)
n.605_606delinsTC
19g.17283350C>ACA404744814ANKLE1c.586C>A (p.Pro196Thr)
n.803C>A
c.553C>A (p.Pro185Thr)
c.748C>A (p.Pro250Thr)
c.*485C>A (n.*485C>A)
n.699C>A
c.588C>A
c.715C>A (p.Pro239Thr)
c.652C>A (p.Pro218Thr)
n.862C>A
c.544C>A (p.Pro182Thr)
n.606C>A
 dbSNP
19g.17283350C=CA2325780491ANKLE1c.586C= (p.Pro196=)
n.803C=
c.553C= (p.Pro185=)
c.748C= (p.Pro250=)
c.*485C= (n.*485C=)
n.699C=
c.588C=
c.715C= (p.Pro239=)
c.652C= (p.Pro218=)
n.862C=
c.544C= (p.Pro182=)
n.606C=
19g.17283350C>GCA404744815ANKLE1c.586C>G (p.Pro196Ala)
n.803C>G
c.553C>G (p.Pro185Ala)
c.748C>G (p.Pro250Ala)
c.*485C>G (n.*485C>G)
n.699C>G
c.588C>G
c.715C>G (p.Pro239Ala)
c.652C>G (p.Pro218Ala)
n.862C>G
c.544C>G (p.Pro182Ala)
n.606C>G
19g.17283350C>TCA404744816ANKLE1c.586C>T (p.Pro196Ser)
n.803C>T
c.553C>T (p.Pro185Ser)
c.748C>T (p.Pro250Ser)
c.*485C>T (n.*485C>T)
n.699C>T
c.588C>T
c.715C>T (p.Pro239Ser)
c.652C>T (p.Pro218Ser)
n.862C>T
c.544C>T (p.Pro182Ser)
n.606C>T
 COSMIC
19g.17283353delCA2325780490ANKLE1c.589del (p.Glu198LysfsTer?)
n.806del
c.556del (p.Glu187LysfsTer?)
c.751del (p.Glu252LysfsTer?)
c.*488del (n.*488del)
n.702del
c.591del
c.718del (p.Glu241LysfsTer?)
c.655del (p.Glu220LysfsTer?)
n.865del
c.547del (p.Glu184LysfsTer?)
n.609del
 dbSNP
19g.17283351C>ACA404744817ANKLE1c.587C>A (p.Pro196His)
n.804C>A
c.554C>A (p.Pro185His)
c.749C>A (p.Pro250His)
c.*486C>A (n.*486C>A)
n.700C>A
c.589C>A
c.716C>A (p.Pro239His)
c.653C>A (p.Pro218His)
n.863C>A
c.545C>A (p.Pro182His)
n.607C>A
19g.17283351C=CA2325780492ANKLE1c.587C= (p.Pro196=)
n.804C=
c.554C= (p.Pro185=)
c.749C= (p.Pro250=)
c.*486C= (n.*486C=)
n.700C=
c.589C=
c.716C= (p.Pro239=)
c.653C= (p.Pro218=)
n.863C=
c.545C= (p.Pro182=)
n.607C=
19g.17283351C>GCA404744818ANKLE1c.587C>G (p.Pro196Arg)
n.804C>G
c.554C>G (p.Pro185Arg)
c.749C>G (p.Pro250Arg)
c.*486C>G (n.*486C>G)
n.700C>G
c.589C>G
c.716C>G (p.Pro239Arg)
c.653C>G (p.Pro218Arg)
n.863C>G
c.545C>G (p.Pro182Arg)
n.607C>G
 gnomAD v4
19g.17283351C>TCA306086260ANKLE1c.587C>T (p.Pro196Leu)
n.804C>T
c.554C>T (p.Pro185Leu)
c.749C>T (p.Pro250Leu)
c.*486C>T (n.*486C>T)
n.700C>T
c.589C>T
c.716C>T (p.Pro239Leu)
c.653C>T (p.Pro218Leu)
n.863C>T
c.545C>T (p.Pro182Leu)
n.607C>T
 dbSNP gnomAD v2 gnomAD v4
19g.17283352C>ACA506095625ANKLE1c.588C>A (p.Pro196=)
n.805C>A
c.555C>A (p.Pro185=)
c.750C>A (p.Pro250=)
c.*487C>A (n.*487C>A)
n.701C>A
c.590C>A
c.717C>A (p.Pro239=)
c.654C>A (p.Pro218=)
n.864C>A
c.546C>A (p.Pro182=)
n.608C>A
19g.17283352C=CA2325780493ANKLE1c.588C= (p.Pro196=)
n.805C=
c.555C= (p.Pro185=)
c.750C= (p.Pro250=)
c.*487C= (n.*487C=)
n.701C=
c.590C=
c.717C= (p.Pro239=)
c.654C= (p.Pro218=)
n.864C=
c.546C= (p.Pro182=)
n.608C=
19g.17283352C>GCA506095626ANKLE1c.588C>G (p.Pro196=)
n.805C>G
c.555C>G (p.Pro185=)
c.750C>G (p.Pro250=)
c.*487C>G (n.*487C>G)
n.701C>G
c.590C>G
c.717C>G (p.Pro239=)
c.654C>G (p.Pro218=)
n.864C>G
c.546C>G (p.Pro182=)
n.608C>G
 dbSNP
19g.17283352C>TCA506095627ANKLE1c.588C>T (p.Pro196=)
n.805C>T
c.555C>T (p.Pro185=)
c.750C>T (p.Pro250=)
c.*487C>T (n.*487C>T)
n.701C>T
c.590C>T
c.717C>T (p.Pro239=)
c.654C>T (p.Pro218=)
n.864C>T
c.546C>T (p.Pro182=)
n.608C>T
 dbSNP COSMIC COSMIC COSMIC
19g.17283353C>ACA404744820ANKLE1c.589C>A (p.Leu197Ile)
n.806C>A
c.556C>A (p.Leu186Ile)
c.751C>A (p.Leu251Ile)
c.*488C>A (n.*488C>A)
n.702C>A
c.591C>A
c.718C>A (p.Leu240Ile)
c.655C>A (p.Leu219Ile)
n.865C>A
c.547C>A (p.Leu183Ile)
n.609C>A
19g.17283353C>GCA404744821ANKLE1c.589C>G (p.Leu197Val)
n.806C>G
c.556C>G (p.Leu186Val)
c.751C>G (p.Leu251Val)
c.*488C>G (n.*488C>G)
n.702C>G
c.591C>G
c.718C>G (p.Leu240Val)
c.655C>G (p.Leu219Val)
n.865C>G
c.547C>G (p.Leu183Val)
n.609C>G
19g.17283353C>TCA404744819ANKLE1c.589C>T (p.Leu197Phe)
n.806C>T
c.556C>T (p.Leu186Phe)
c.751C>T (p.Leu251Phe)
c.*488C>T (n.*488C>T)
n.702C>T
c.591C>T
c.718C>T (p.Leu240Phe)
c.655C>T (p.Leu219Phe)
n.865C>T
c.547C>T (p.Leu183Phe)
n.609C>T
 gnomAD v4
19g.17283354T>ACA404744822ANKLE1c.590T>A (p.Leu197His)
n.807T>A
c.557T>A (p.Leu186His)
c.752T>A (p.Leu251His)
c.*489T>A (n.*489T>A)
n.703T>A
c.592T>A
c.719T>A (p.Leu240His)
c.656T>A (p.Leu219His)
n.866T>A
c.548T>A (p.Leu183His)
n.610T>A
19g.17283354T>CCA404744823ANKLE1c.590T>C (p.Leu197Pro)
n.807T>C
c.557T>C (p.Leu186Pro)
c.752T>C (p.Leu251Pro)
c.*489T>C (n.*489T>C)
n.703T>C
c.592T>C
c.719T>C (p.Leu240Pro)
c.656T>C (p.Leu219Pro)
n.866T>C
c.548T>C (p.Leu183Pro)
n.610T>C
19g.17283354T>GCA404744824ANKLE1c.590T>G (p.Leu197Arg)
n.807T>G
c.557T>G (p.Leu186Arg)
c.752T>G (p.Leu251Arg)
c.*489T>G (n.*489T>G)
n.703T>G
c.592T>G
c.719T>G (p.Leu240Arg)
c.656T>G (p.Leu219Arg)
n.866T>G
c.548T>G (p.Leu183Arg)
n.610T>G
19g.17283355T>ACA506095628ANKLE1c.591T>A (p.Leu197=)
n.808T>A
c.558T>A (p.Leu186=)
c.753T>A (p.Leu251=)
c.*490T>A (n.*490T>A)
n.704T>A
c.593T>A
c.720T>A (p.Leu240=)
c.657T>A (p.Leu219=)
n.867T>A
c.549T>A (p.Leu183=)
n.611T>A
19g.17283355T>CCA506095629ANKLE1c.591T>C (p.Leu197=)
n.808T>C
c.558T>C (p.Leu186=)
c.753T>C (p.Leu251=)
c.*490T>C (n.*490T>C)
n.704T>C
c.593T>C
c.720T>C (p.Leu240=)
c.657T>C (p.Leu219=)
n.867T>C
c.549T>C (p.Leu183=)
n.611T>C
19g.17283355T>GCA506095630ANKLE1c.591T>G (p.Leu197=)
n.808T>G
c.558T>G (p.Leu186=)
c.753T>G (p.Leu251=)
c.*490T>G (n.*490T>G)
n.704T>G
c.593T>G
c.720T>G (p.Leu240=)
c.657T>G (p.Leu219=)
n.867T>G
c.549T>G (p.Leu183=)
n.611T>G
19g.17283356G>ACA404744825ANKLE1c.592G>A (p.Glu198Lys)
n.809G>A
c.559G>A (p.Glu187Lys)
c.754G>A (p.Glu252Lys)
c.*491G>A (n.*491G>A)
n.705G>A
c.594G>A
c.721G>A (p.Glu241Lys)
c.658G>A (p.Glu220Lys)
n.868G>A
c.550G>A (p.Glu184Lys)
n.612G>A
 gnomAD v4
19g.17283356G>CCA404744826ANKLE1c.592G>C (p.Glu198Gln)
n.809G>C
c.559G>C (p.Glu187Gln)
c.754G>C (p.Glu252Gln)
c.*491G>C (n.*491G>C)
n.705G>C
c.594G>C
c.721G>C (p.Glu241Gln)
c.658G>C (p.Glu220Gln)
n.868G>C
c.550G>C (p.Glu184Gln)
n.612G>C
19g.17283356G>TCA404744827ANKLE1c.592G>T (p.Glu198Ter)
n.809G>T
c.559G>T (p.Glu187Ter)
c.754G>T (p.Glu252Ter)
c.*491G>T (n.*491G>T)
n.705G>T
c.594G>T
c.721G>T (p.Glu241Ter)
c.658G>T (p.Glu220Ter)
n.868G>T
c.550G>T (p.Glu184Ter)
n.612G>T
19g.17283357A>CCA404744828ANKLE1c.593A>C (p.Glu198Ala)
n.810A>C
c.560A>C (p.Glu187Ala)
c.755A>C (p.Glu252Ala)
c.*492A>C (n.*492A>C)
n.706A>C
c.595A>C
c.722A>C (p.Glu241Ala)
c.659A>C (p.Glu220Ala)
n.869A>C
c.551A>C (p.Glu184Ala)
n.613A>C
19g.17283357A>GCA404744830ANKLE1c.593A>G (p.Glu198Gly)
n.810A>G
c.560A>G (p.Glu187Gly)
c.755A>G (p.Glu252Gly)
c.*492A>G (n.*492A>G)
n.706A>G
c.595A>G
c.722A>G (p.Glu241Gly)
c.659A>G (p.Glu220Gly)
n.869A>G
c.551A>G (p.Glu184Gly)
n.613A>G
19g.17283357A>TCA404744829ANKLE1c.593A>T (p.Glu198Val)
n.810A>T
c.560A>T (p.Glu187Val)
c.755A>T (p.Glu252Val)
c.*492A>T (n.*492A>T)
n.706A>T
c.595A>T
c.722A>T (p.Glu241Val)
c.659A>T (p.Glu220Val)
n.869A>T
c.551A>T (p.Glu184Val)
n.613A>T
19g.17283358A>CCA404744831ANKLE1c.594A>C (p.Glu198Asp)
n.811A>C
c.561A>C (p.Glu187Asp)
c.756A>C (p.Glu252Asp)
c.*493A>C (n.*493A>C)
n.707A>C
c.596A>C
c.723A>C (p.Glu241Asp)
c.660A>C (p.Glu220Asp)
n.870A>C
c.552A>C (p.Glu184Asp)
n.614A>C
19g.17283358A>GCA506095633ANKLE1c.594A>G (p.Glu198=)
n.811A>G
c.561A>G (p.Glu187=)
c.756A>G (p.Glu252=)
c.*493A>G (n.*493A>G)
n.707A>G
c.596A>G
c.723A>G (p.Glu241=)
c.660A>G (p.Glu220=)
n.870A>G
c.552A>G (p.Glu184=)
n.614A>G
19g.17283358A>TCA404744832ANKLE1c.594A>T (p.Glu198Asp)
n.811A>T
c.561A>T (p.Glu187Asp)
c.756A>T (p.Glu252Asp)
c.*493A>T (n.*493A>T)
n.707A>T
c.596A>T
c.723A>T (p.Glu241Asp)
c.660A>T (p.Glu220Asp)
n.870A>T
c.552A>T (p.Glu184Asp)
n.614A>T
19g.17283359A>CCA404744833ANKLE1c.595A>C (p.Thr199Pro)
n.812A>C
c.562A>C (p.Thr188Pro)
c.757A>C (p.Thr253Pro)
c.*494A>C (n.*494A>C)
n.708A>C
c.597A>C
c.724A>C (p.Thr242Pro)
c.661A>C (p.Thr221Pro)
n.871A>C
c.553A>C (p.Thr185Pro)
n.615A>C
 gnomAD v4
19g.17283359A>GCA404744834ANKLE1c.595A>G (p.Thr199Ala)
n.812A>G
c.562A>G (p.Thr188Ala)
c.757A>G (p.Thr253Ala)
c.*494A>G (n.*494A>G)
n.708A>G
c.597A>G
c.724A>G (p.Thr242Ala)
c.661A>G (p.Thr221Ala)
n.871A>G
c.553A>G (p.Thr185Ala)
n.615A>G
19g.17283359A>TCA404744835ANKLE1c.595A>T (p.Thr199Ser)
n.812A>T
c.562A>T (p.Thr188Ser)
c.757A>T (p.Thr253Ser)
c.*494A>T (n.*494A>T)
n.708A>T
c.597A>T
c.724A>T (p.Thr242Ser)
c.661A>T (p.Thr221Ser)
n.871A>T
c.553A>T (p.Thr185Ser)
n.615A>T
19g.17283360C>ACA404744837ANKLE1c.596C>A (p.Thr199Asn)
n.813C>A
c.563C>A (p.Thr188Asn)
c.758C>A (p.Thr253Asn)
c.*495C>A (n.*495C>A)
n.709C>A
c.598C>A
c.725C>A (p.Thr242Asn)
c.662C>A (p.Thr221Asn)
n.872C>A
c.554C>A (p.Thr185Asn)
n.616C>A
 dbSNP
19g.17283360C=CA2325780494ANKLE1c.596C= (p.Thr199=)
n.813C=
c.563C= (p.Thr188=)
c.758C= (p.Thr253=)
c.*495C= (n.*495C=)
n.709C=
c.598C=
c.725C= (p.Thr242=)
c.662C= (p.Thr221=)
n.872C=
c.554C= (p.Thr185=)
n.616C=
19g.17283360C>GCA404744838ANKLE1c.596C>G (p.Thr199Ser)
n.813C>G
c.563C>G (p.Thr188Ser)
c.758C>G (p.Thr253Ser)
c.*495C>G (n.*495C>G)
n.709C>G
c.598C>G
c.725C>G (p.Thr242Ser)
c.662C>G (p.Thr221Ser)
n.872C>G
c.554C>G (p.Thr185Ser)
n.616C>G
 gnomAD v4
19g.17283360C>TCA404744836ANKLE1c.596C>T (p.Thr199Ile)
n.813C>T
c.563C>T (p.Thr188Ile)
c.758C>T (p.Thr253Ile)
c.*495C>T (n.*495C>T)
n.709C>T
c.598C>T
c.725C>T (p.Thr242Ile)
c.662C>T (p.Thr221Ile)
n.872C>T
c.554C>T (p.Thr185Ile)
n.616C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17283360_17283362delinsCTGCA2325780495ANKLE1c.596_598delinsCTG (p.Thr199=)
n.813_815delinsCTG
c.563_565delinsCTG (p.Thr188=)
c.758_760delinsCTG (p.Thr253=)
c.*495_*497delinsCTG (n.*495_*497delinsCTG)
n.709_711delinsCTG
c.598_600delinsCTG
c.725_727delinsCTG (p.Thr242=)
c.662_664delinsCTG (p.Thr221=)
n.872_874delinsCTG
c.554_556delinsCTG (p.Thr185=)
n.616_618delinsCTG
19g.17283361T>ACA506095637ANKLE1c.597T>A (p.Thr199=)
n.814T>A
c.564T>A (p.Thr188=)
c.759T>A (p.Thr253=)
c.*496T>A (n.*496T>A)
n.710T>A
c.599T>A
c.726T>A (p.Thr242=)
c.663T>A (p.Thr221=)
n.873T>A
c.555T>A (p.Thr185=)
n.617T>A
19g.17283361T>CCA506095638ANKLE1c.597T>C (p.Thr199=)
n.814T>C
c.564T>C (p.Thr188=)
c.759T>C (p.Thr253=)
c.*496T>C (n.*496T>C)
n.710T>C
c.599T>C
c.726T>C (p.Thr242=)
c.663T>C (p.Thr221=)
n.873T>C
c.555T>C (p.Thr185=)
n.617T>C
 dbSNP gnomAD v4
19g.17283361T>GCA506095639ANKLE1c.597T>G (p.Thr199=)
n.814T>G
c.564T>G (p.Thr188=)
c.759T>G (p.Thr253=)
c.*496T>G (n.*496T>G)
n.710T>G
c.599T>G
c.726T>G (p.Thr242=)
c.663T>G (p.Thr221=)
n.873T>G
c.555T>G (p.Thr185=)
n.617T>G
19g.17283361T=CA2325780496ANKLE1c.597T= (p.Thr199=)
n.814T=
c.564T= (p.Thr188=)
c.759T= (p.Thr253=)
c.*496T= (n.*496T=)
n.710T=
c.599T=
c.726T= (p.Thr242=)
c.663T= (p.Thr221=)
n.873T=
c.555T= (p.Thr185=)
n.617T=
19g.17283363_17283364delCA632133552ANKLE1c.599_600del (p.Val200GlyfsTer26)
n.816_817del
c.566_567del (p.Val189GlyfsTer26)
c.761_762del (p.Val254GlyfsTer26)
c.*498_*499del (n.*498_*499del)
n.712_713del
c.601_602del
c.728_729del (p.Val243GlyfsTer26)
c.665_666del (p.Val222GlyfsTer26)
n.875_876del
c.557_558del (p.Val186GlyfsTer26)
n.619_620del
 dbSNP gnomAD v2 gnomAD v4
19g.17283362G>ACA404744839ANKLE1c.598G>A (p.Val200Met)
n.815G>A
c.565G>A (p.Val189Met)
c.760G>A (p.Val254Met)
c.*497G>A (n.*497G>A)
n.711G>A
c.600G>A
c.727G>A (p.Val243Met)
c.664G>A (p.Val222Met)
n.874G>A
c.556G>A (p.Val186Met)
n.618G>A
 gnomAD v4
19g.17283362G>CCA404744841ANKLE1c.598G>C (p.Val200Leu)
n.815G>C
c.565G>C (p.Val189Leu)
c.760G>C (p.Val254Leu)
c.*497G>C (n.*497G>C)
n.711G>C
c.600G>C
c.727G>C (p.Val243Leu)
c.664G>C (p.Val222Leu)
n.874G>C
c.556G>C (p.Val186Leu)
n.618G>C
19g.17283362G>TCA404744840ANKLE1c.598G>T (p.Val200Leu)
n.815G>T
c.565G>T (p.Val189Leu)
c.760G>T (p.Val254Leu)
c.*497G>T (n.*497G>T)
n.711G>T
c.600G>T
c.727G>T (p.Val243Leu)
c.664G>T (p.Val222Leu)
n.874G>T
c.556G>T (p.Val186Leu)
n.618G>T
19g.17283363T>ACA404744842ANKLE1c.599T>A (p.Val200Glu)
n.816T>A
c.566T>A (p.Val189Glu)
c.761T>A (p.Val254Glu)
c.*498T>A (n.*498T>A)
n.712T>A
c.601T>A
c.728T>A (p.Val243Glu)
c.665T>A (p.Val222Glu)
n.875T>A
c.557T>A (p.Val186Glu)
n.619T>A
19g.17283363T>CCA404744843ANKLE1c.599T>C (p.Val200Ala)
n.816T>C
c.566T>C (p.Val189Ala)
c.761T>C (p.Val254Ala)
c.*498T>C (n.*498T>C)
n.712T>C
c.601T>C
c.728T>C (p.Val243Ala)
c.665T>C (p.Val222Ala)
n.875T>C
c.557T>C (p.Val186Ala)
n.619T>C
19g.17283363T>GCA9291143ANKLE1c.599T>G (p.Val200Gly)
n.816T>G
c.566T>G (p.Val189Gly)
c.761T>G (p.Val254Gly)
c.*498T>G (n.*498T>G)
n.712T>G
c.601T>G
c.728T>G (p.Val243Gly)
c.665T>G (p.Val222Gly)
n.875T>G
c.557T>G (p.Val186Gly)
n.619T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283363T=CA2325780497ANKLE1c.599T= (p.Val200=)
n.816T=
c.566T= (p.Val189=)
c.761T= (p.Val254=)
c.*498T= (n.*498T=)
n.712T=
c.601T=
c.728T= (p.Val243=)
c.665T= (p.Val222=)
n.875T=
c.557T= (p.Val186=)
n.619T=
19g.17283364G>ACA506095642ANKLE1c.600G>A (p.Val200=)
n.817G>A
c.567G>A (p.Val189=)
c.762G>A (p.Val254=)
c.*499G>A (n.*499G>A)
n.713G>A
c.602G>A
c.729G>A (p.Val243=)
c.666G>A (p.Val222=)
n.876G>A
c.558G>A (p.Val186=)
n.620G>A
19g.17283364G>CCA506095643ANKLE1c.600G>C (p.Val200=)
n.817G>C
c.567G>C (p.Val189=)
c.762G>C (p.Val254=)
c.*499G>C (n.*499G>C)
n.713G>C
c.602G>C
c.729G>C (p.Val243=)
c.666G>C (p.Val222=)
n.876G>C
c.558G>C (p.Val186=)
n.620G>C
19g.17283364G>TCA506095644ANKLE1c.600G>T (p.Val200=)
n.817G>T
c.567G>T (p.Val189=)
c.762G>T (p.Val254=)
c.*499G>T (n.*499G>T)
n.713G>T
c.602G>T
c.729G>T (p.Val243=)
c.666G>T (p.Val222=)
n.876G>T
c.558G>T (p.Val186=)
n.620G>T
19g.17283365G>ACA404744844ANKLE1c.601G>A (p.Asp201Asn)
n.818G>A
c.568G>A (p.Asp190Asn)
c.763G>A (p.Asp255Asn)
c.*500G>A (n.*500G>A)
n.714G>A
c.603G>A
c.730G>A (p.Asp244Asn)
c.667G>A (p.Asp223Asn)
n.877G>A
c.559G>A (p.Asp187Asn)
n.621G>A
19g.17283365G>CCA404744845ANKLE1c.601G>C (p.Asp201His)
n.818G>C
c.568G>C (p.Asp190His)
c.763G>C (p.Asp255His)
c.*500G>C (n.*500G>C)
n.714G>C
c.603G>C
c.730G>C (p.Asp244His)
c.667G>C (p.Asp223His)
n.877G>C
c.559G>C (p.Asp187His)
n.621G>C
19g.17283365G>TCA404744846ANKLE1c.601G>T (p.Asp201Tyr)
n.818G>T
c.568G>T (p.Asp190Tyr)
c.763G>T (p.Asp255Tyr)
c.*500G>T (n.*500G>T)
n.714G>T
c.603G>T
c.730G>T (p.Asp244Tyr)
c.667G>T (p.Asp223Tyr)
n.877G>T
c.559G>T (p.Asp187Tyr)
n.621G>T
19g.17283366A>CCA404744847ANKLE1c.602A>C (p.Asp201Ala)
n.819A>C
c.569A>C (p.Asp190Ala)
c.764A>C (p.Asp255Ala)
c.*501A>C (n.*501A>C)
n.715A>C
c.604A>C
c.731A>C (p.Asp244Ala)
c.668A>C (p.Asp223Ala)
n.878A>C
c.560A>C (p.Asp187Ala)
n.622A>C
19g.17283366A>GCA404744848ANKLE1c.602A>G (p.Asp201Gly)
n.819A>G
c.569A>G (p.Asp190Gly)
c.764A>G (p.Asp255Gly)
c.*501A>G (n.*501A>G)
n.715A>G
c.604A>G
c.731A>G (p.Asp244Gly)
c.668A>G (p.Asp223Gly)
n.878A>G
c.560A>G (p.Asp187Gly)
n.622A>G
19g.17283366A>TCA404744849ANKLE1c.602A>T (p.Asp201Val)
n.819A>T
c.569A>T (p.Asp190Val)
c.764A>T (p.Asp255Val)
c.*501A>T (n.*501A>T)
n.715A>T
c.604A>T
c.731A>T (p.Asp244Val)
c.668A>T (p.Asp223Val)
n.878A>T
c.560A>T (p.Asp187Val)
n.622A>T
19g.17283367C>ACA9291144ANKLE1c.603C>A (p.Asp201Glu)
n.820C>A
c.570C>A (p.Asp190Glu)
c.765C>A (p.Asp255Glu)
c.*502C>A (n.*502C>A)
n.716C>A
c.605C>A
c.732C>A (p.Asp244Glu)
c.669C>A (p.Asp223Glu)
n.879C>A
c.561C>A (p.Asp187Glu)
n.623C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283367C=CA2325780498ANKLE1c.603C= (p.Asp201=)
n.820C=
c.570C= (p.Asp190=)
c.765C= (p.Asp255=)
c.*502C= (n.*502C=)
n.716C=
c.605C=
c.732C= (p.Asp244=)
c.669C= (p.Asp223=)
n.879C=
c.561C= (p.Asp187=)
n.623C=
19g.17283367C>GCA404744850ANKLE1c.603C>G (p.Asp201Glu)
n.820C>G
c.570C>G (p.Asp190Glu)
c.765C>G (p.Asp255Glu)
c.*502C>G (n.*502C>G)
n.716C>G
c.605C>G
c.732C>G (p.Asp244Glu)
c.669C>G (p.Asp223Glu)
n.879C>G
c.561C>G (p.Asp187Glu)
n.623C>G
 dbSNP gnomAD v3 gnomAD v4
19g.17283367C>TCA506095649ANKLE1c.603C>T (p.Asp201=)
n.820C>T
c.570C>T (p.Asp190=)
c.765C>T (p.Asp255=)
c.*502C>T (n.*502C>T)
n.716C>T
c.605C>T
c.732C>T (p.Asp244=)
c.669C>T (p.Asp223=)
n.879C>T
c.561C>T (p.Asp187=)
n.623C>T
19g.17283368A>CCA404744851ANKLE1c.604A>C (p.Lys202Gln)
n.821A>C
c.571A>C (p.Lys191Gln)
c.766A>C (p.Lys256Gln)
c.*503A>C (n.*503A>C)
n.717A>C
c.606A>C
c.733A>C (p.Lys245Gln)
c.670A>C (p.Lys224Gln)
n.880A>C
c.562A>C (p.Lys188Gln)
n.624A>C
19g.17283368A>GCA404744852ANKLE1c.604A>G (p.Lys202Glu)
n.821A>G
c.571A>G (p.Lys191Glu)
c.766A>G (p.Lys256Glu)
c.*503A>G (n.*503A>G)
n.717A>G
c.606A>G
c.733A>G (p.Lys245Glu)
c.670A>G (p.Lys224Glu)
n.880A>G
c.562A>G (p.Lys188Glu)
n.624A>G
 gnomAD v4 COSMIC COSMIC COSMIC
19g.17283368A>TCA404744853ANKLE1c.604A>T (p.Lys202Ter)
n.821A>T
c.571A>T (p.Lys191Ter)
c.766A>T (p.Lys256Ter)
c.*503A>T (n.*503A>T)
n.717A>T
c.606A>T
c.733A>T (p.Lys245Ter)
c.670A>T (p.Lys224Ter)
n.880A>T
c.562A>T (p.Lys188Ter)
n.624A>T
19g.17283369A>CCA404744856ANKLE1c.605A>C (p.Lys202Thr)
n.822A>C
c.572A>C (p.Lys191Thr)
c.767A>C (p.Lys256Thr)
c.*504A>C (n.*504A>C)
n.718A>C
c.607A>C
c.734A>C (p.Lys245Thr)
c.671A>C (p.Lys224Thr)
n.881A>C
c.563A>C (p.Lys188Thr)
n.625A>C
19g.17283369A>GCA404744854ANKLE1c.605A>G (p.Lys202Arg)
n.822A>G
c.572A>G (p.Lys191Arg)
c.767A>G (p.Lys256Arg)
c.*504A>G (n.*504A>G)
n.718A>G
c.607A>G
c.734A>G (p.Lys245Arg)
c.671A>G (p.Lys224Arg)
n.881A>G
c.563A>G (p.Lys188Arg)
n.625A>G
19g.17283369A>TCA404744855ANKLE1c.605A>T (p.Lys202Ile)
n.822A>T
c.572A>T (p.Lys191Ile)
c.767A>T (p.Lys256Ile)
c.*504A>T (n.*504A>T)
n.718A>T
c.607A>T
c.734A>T (p.Lys245Ile)
c.671A>T (p.Lys224Ile)
n.881A>T
c.563A>T (p.Lys188Ile)
n.625A>T
19g.17283370A>CCA404744857ANKLE1c.606A>C (p.Lys202Asn)
n.823A>C
c.573A>C (p.Lys191Asn)
c.768A>C (p.Lys256Asn)
c.*505A>C (n.*505A>C)
n.719A>C
c.608A>C
c.735A>C (p.Lys245Asn)
c.672A>C (p.Lys224Asn)
n.882A>C
c.564A>C (p.Lys188Asn)
n.626A>C
19g.17283370A>GCA506095655ANKLE1c.606A>G (p.Lys202=)
n.823A>G
c.573A>G (p.Lys191=)
c.768A>G (p.Lys256=)
c.*505A>G (n.*505A>G)
n.719A>G
c.608A>G
c.735A>G (p.Lys245=)
c.672A>G (p.Lys224=)
n.882A>G
c.564A>G (p.Lys188=)
n.626A>G
19g.17283370A>TCA404744858ANKLE1c.606A>T (p.Lys202Asn)
n.823A>T
c.573A>T (p.Lys191Asn)
c.768A>T (p.Lys256Asn)
c.*505A>T (n.*505A>T)
n.719A>T
c.608A>T
c.735A>T (p.Lys245Asn)
c.672A>T (p.Lys224Asn)
n.882A>T
c.564A>T (p.Lys188Asn)
n.626A>T
 gnomAD v4
19g.17283371C>ACA404744859ANKLE1c.607C>A (p.His203Asn)
n.824C>A
c.574C>A (p.His192Asn)
c.769C>A (p.His257Asn)
c.*506C>A (n.*506C>A)
n.720C>A
c.609C>A
c.736C>A (p.His246Asn)
c.673C>A (p.His225Asn)
n.883C>A
c.565C>A (p.His189Asn)
n.627C>A
19g.17283371C=CA2325780499ANKLE1c.607C= (p.His203=)
n.824C=
c.574C= (p.His192=)
c.769C= (p.His257=)
c.*506C= (n.*506C=)
n.720C=
c.609C=
c.736C= (p.His246=)
c.673C= (p.His225=)
n.883C=
c.565C= (p.His189=)
n.627C=
19g.17283371C>GCA404744860ANKLE1c.607C>G (p.His203Asp)
n.824C>G
c.574C>G (p.His192Asp)
c.769C>G (p.His257Asp)
c.*506C>G (n.*506C>G)
n.720C>G
c.609C>G
c.736C>G (p.His246Asp)
c.673C>G (p.His225Asp)
n.883C>G
c.565C>G (p.His189Asp)
n.627C>G
19g.17283371C>TCA9291145ANKLE1c.607C>T (p.His203Tyr)
n.824C>T
c.574C>T (p.His192Tyr)
c.769C>T (p.His257Tyr)
c.*506C>T (n.*506C>T)
n.720C>T
c.609C>T
c.736C>T (p.His246Tyr)
c.673C>T (p.His225Tyr)
n.883C>T
c.565C>T (p.His189Tyr)
n.627C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283372A=CA2325780500ANKLE1c.608A= (p.His203=)
n.825A=
c.575A= (p.His192=)
c.770A= (p.His257=)
c.*507A= (n.*507A=)
n.721A=
c.610A=
c.737A= (p.His246=)
c.674A= (p.His225=)
n.884A=
c.566A= (p.His189=)
n.628A=
19g.17283372A>CCA404744861ANKLE1c.608A>C (p.His203Pro)
n.825A>C
c.575A>C (p.His192Pro)
c.770A>C (p.His257Pro)
c.*507A>C (n.*507A>C)
n.721A>C
c.610A>C
c.737A>C (p.His246Pro)
c.674A>C (p.His225Pro)
n.884A>C
c.566A>C (p.His189Pro)
n.628A>C
 dbSNP
19g.17283372A>GCA404744862ANKLE1c.608A>G (p.His203Arg)
n.825A>G
c.575A>G (p.His192Arg)
c.770A>G (p.His257Arg)
c.*507A>G (n.*507A>G)
n.721A>G
c.610A>G
c.737A>G (p.His246Arg)
c.674A>G (p.His225Arg)
n.884A>G
c.566A>G (p.His189Arg)
n.628A>G
19g.17283372A>TCA404744863ANKLE1c.608A>T (p.His203Leu)
n.825A>T
c.575A>T (p.His192Leu)
c.770A>T (p.His257Leu)
c.*507A>T (n.*507A>T)
n.721A>T
c.610A>T
c.737A>T (p.His246Leu)
c.674A>T (p.His225Leu)
n.884A>T
c.566A>T (p.His189Leu)
n.628A>T
19g.17283373T>ACA404744864ANKLE1c.609T>A (p.His203Gln)
n.826T>A
c.576T>A (p.His192Gln)
c.771T>A (p.His257Gln)
c.*508T>A (n.*508T>A)
n.722T>A
c.611T>A
c.738T>A (p.His246Gln)
c.675T>A (p.His225Gln)
n.885T>A
c.567T>A (p.His189Gln)
n.629T>A
19g.17283373T>CCA506095659ANKLE1c.609T>C (p.His203=)
n.826T>C
c.576T>C (p.His192=)
c.771T>C (p.His257=)
c.*508T>C (n.*508T>C)
n.722T>C
c.611T>C
c.738T>C (p.His246=)
c.675T>C (p.His225=)
n.885T>C
c.567T>C (p.His189=)
n.629T>C
19g.17283373T>GCA404744865ANKLE1c.609T>G (p.His203Gln)
n.826T>G
c.576T>G (p.His192Gln)
c.771T>G (p.His257Gln)
c.*508T>G (n.*508T>G)
n.722T>G
c.611T>G
c.738T>G (p.His246Gln)
c.675T>G (p.His225Gln)
n.885T>G
c.567T>G (p.His189Gln)
n.629T>G
19g.17283374G>ACA404744867ANKLE1c.610G>A (p.Gly204Arg)
n.827G>A
c.577G>A (p.Gly193Arg)
c.772G>A (p.Gly258Arg)
c.*509G>A (n.*509G>A)
n.723G>A
c.612G>A
c.739G>A (p.Gly247Arg)
c.676G>A (p.Gly226Arg)
n.886G>A
c.568G>A (p.Gly190Arg)
n.630G>A
19g.17283374G>CCA404744868ANKLE1c.610G>C (p.Gly204Arg)
n.827G>C
c.577G>C (p.Gly193Arg)
c.772G>C (p.Gly258Arg)
c.*509G>C (n.*509G>C)
n.723G>C
c.612G>C
c.739G>C (p.Gly247Arg)
c.676G>C (p.Gly226Arg)
n.886G>C
c.568G>C (p.Gly190Arg)
n.630G>C
19g.17283374G>TCA404744866ANKLE1c.610G>T (p.Gly204Trp)
n.827G>T
c.577G>T (p.Gly193Trp)
c.772G>T (p.Gly258Trp)
c.*509G>T (n.*509G>T)
n.723G>T
c.612G>T
c.739G>T (p.Gly247Trp)
c.676G>T (p.Gly226Trp)
n.886G>T
c.568G>T (p.Gly190Trp)
n.630G>T
 COSMIC COSMIC COSMIC
19g.17283375G>ACA9291146ANKLE1c.611G>A (p.Gly204Glu)
n.828G>A
c.578G>A (p.Gly193Glu)
c.773G>A (p.Gly258Glu)
c.*510G>A (n.*510G>A)
n.724G>A
c.613G>A
c.740G>A (p.Gly247Glu)
c.677G>A (p.Gly226Glu)
n.887G>A
c.569G>A (p.Gly190Glu)
n.631G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283375G>CCA404744869ANKLE1c.611G>C (p.Gly204Ala)
n.828G>C
c.578G>C (p.Gly193Ala)
c.773G>C (p.Gly258Ala)
c.*510G>C (n.*510G>C)
n.724G>C
c.613G>C
c.740G>C (p.Gly247Ala)
c.677G>C (p.Gly226Ala)
n.887G>C
c.569G>C (p.Gly190Ala)
n.631G>C
19g.17283375G=CA2325780501ANKLE1c.611G= (p.Gly204=)
n.828G=
c.578G= (p.Gly193=)
c.773G= (p.Gly258=)
c.*510G= (n.*510G=)
n.724G=
c.613G=
c.740G= (p.Gly247=)
c.677G= (p.Gly226=)
n.887G=
c.569G= (p.Gly190=)
n.631G=
19g.17283375G>TCA404744870ANKLE1c.611G>T (p.Gly204Val)
n.828G>T
c.578G>T (p.Gly193Val)
c.773G>T (p.Gly258Val)
c.*510G>T (n.*510G>T)
n.724G>T
c.613G>T
c.740G>T (p.Gly247Val)
c.677G>T (p.Gly226Val)
n.887G>T
c.569G>T (p.Gly190Val)
n.631G>T
19g.17283376G>ACA506095668ANKLE1c.612G>A (p.Gly204=)
n.829G>A
c.579G>A (p.Gly193=)
c.774G>A (p.Gly258=)
c.*511G>A (n.*511G>A)
n.725G>A
c.614G>A
c.741G>A (p.Gly247=)
c.678G>A (p.Gly226=)
n.888G>A
c.570G>A (p.Gly190=)
n.632G>A
19g.17283376G>CCA506095670ANKLE1c.612G>C (p.Gly204=)
n.829G>C
c.579G>C (p.Gly193=)
c.774G>C (p.Gly258=)
c.*511G>C (n.*511G>C)
n.725G>C
c.614G>C
c.741G>C (p.Gly247=)
c.678G>C (p.Gly226=)
n.888G>C
c.570G>C (p.Gly190=)
n.632G>C
19g.17283376G>TCA506095669ANKLE1c.612G>T (p.Gly204=)
n.829G>T
c.579G>T (p.Gly193=)
c.774G>T (p.Gly258=)
c.*511G>T (n.*511G>T)
n.725G>T
c.614G>T
c.741G>T (p.Gly247=)
c.678G>T (p.Gly226=)
n.888G>T
c.570G>T (p.Gly190=)
n.632G>T
19g.17283377A>CCA404744871ANKLE1c.613A>C (p.Ser205Arg)
n.830A>C
c.580A>C (p.Ser194Arg)
c.775A>C (p.Ser259Arg)
c.*512A>C (n.*512A>C)
n.726A>C
c.615A>C
c.742A>C (p.Ser248Arg)
c.679A>C (p.Ser227Arg)
n.889A>C
c.571A>C (p.Ser191Arg)
n.633A>C
19g.17283377A>GCA404744872ANKLE1c.613A>G (p.Ser205Gly)
n.830A>G
c.580A>G (p.Ser194Gly)
c.775A>G (p.Ser259Gly)
c.*512A>G (n.*512A>G)
n.726A>G
c.615A>G
c.742A>G (p.Ser248Gly)
c.679A>G (p.Ser227Gly)
n.889A>G
c.571A>G (p.Ser191Gly)
n.633A>G
19g.17283377A>TCA404744873ANKLE1c.613A>T (p.Ser205Cys)
n.830A>T
c.580A>T (p.Ser194Cys)
c.775A>T (p.Ser259Cys)
c.*512A>T (n.*512A>T)
n.726A>T
c.615A>T
c.742A>T (p.Ser248Cys)
c.679A>T (p.Ser227Cys)
n.889A>T
c.571A>T (p.Ser191Cys)
n.633A>T
19g.17283378G>ACA404744874ANKLE1c.614G>A (p.Ser205Asn)
n.831G>A
c.581G>A (p.Ser194Asn)
c.776G>A (p.Ser259Asn)
c.*513G>A (n.*513G>A)
n.727G>A
c.616G>A
c.743G>A (p.Ser248Asn)
c.680G>A (p.Ser227Asn)
n.890G>A
c.572G>A (p.Ser191Asn)
n.634G>A
19g.17283378G>CCA404744875ANKLE1c.614G>C (p.Ser205Thr)
n.831G>C
c.581G>C (p.Ser194Thr)
c.776G>C (p.Ser259Thr)
c.*513G>C (n.*513G>C)
n.727G>C
c.616G>C
c.743G>C (p.Ser248Thr)
c.680G>C (p.Ser227Thr)
n.890G>C
c.572G>C (p.Ser191Thr)
n.634G>C
19g.17283378G>TCA404744876ANKLE1c.614G>T (p.Ser205Ile)
n.831G>T
c.581G>T (p.Ser194Ile)
c.776G>T (p.Ser259Ile)
c.*513G>T (n.*513G>T)
n.727G>T
c.616G>T
c.743G>T (p.Ser248Ile)
c.680G>T (p.Ser227Ile)
n.890G>T
c.572G>T (p.Ser191Ile)
n.634G>T
19g.17283379C>ACA404744877ANKLE1c.615C>A (p.Ser205Arg)
n.832C>A
c.582C>A (p.Ser194Arg)
c.777C>A (p.Ser259Arg)
c.*514C>A (n.*514C>A)
n.728C>A
c.617C>A
c.744C>A (p.Ser248Arg)
c.681C>A (p.Ser227Arg)
n.891C>A
c.573C>A (p.Ser191Arg)
n.635C>A
19g.17283379C=CA2325780502ANKLE1c.615C= (p.Ser205=)
n.832C=
c.582C= (p.Ser194=)
c.777C= (p.Ser259=)
c.*514C= (n.*514C=)
n.728C=
c.617C=
c.744C= (p.Ser248=)
c.681C= (p.Ser227=)
n.891C=
c.573C= (p.Ser191=)
n.635C=
19g.17283379C>GCA404744878ANKLE1c.615C>G (p.Ser205Arg)
n.832C>G
c.582C>G (p.Ser194Arg)
c.777C>G (p.Ser259Arg)
c.*514C>G (n.*514C>G)
n.728C>G
c.617C>G
c.744C>G (p.Ser248Arg)
c.681C>G (p.Ser227Arg)
n.891C>G
c.573C>G (p.Ser191Arg)
n.635C>G
19g.17283379C>TCA9291147ANKLE1c.615C>T (p.Ser205=)
n.832C>T
c.582C>T (p.Ser194=)
c.777C>T (p.Ser259=)
c.*514C>T (n.*514C>T)
n.728C>T
c.617C>T
c.744C>T (p.Ser248=)
c.681C>T (p.Ser227=)
n.891C>T
c.573C>T (p.Ser191=)
n.635C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283380T>ACA404744880ANKLE1c.616T>A (p.Ser206Thr)
n.833T>A
c.583T>A (p.Ser195Thr)
c.778T>A (p.Ser260Thr)
c.*515T>A (n.*515T>A)
n.729T>A
c.618T>A
c.745T>A (p.Ser249Thr)
c.682T>A (p.Ser228Thr)
n.892T>A
c.574T>A (p.Ser192Thr)
n.636T>A
19g.17283380T>CCA404744881ANKLE1c.616T>C (p.Ser206Pro)
n.833T>C
c.583T>C (p.Ser195Pro)
c.778T>C (p.Ser260Pro)
c.*515T>C (n.*515T>C)
n.729T>C
c.618T>C
c.745T>C (p.Ser249Pro)
c.682T>C (p.Ser228Pro)
n.892T>C
c.574T>C (p.Ser192Pro)
n.636T>C
19g.17283380T>GCA404744879ANKLE1c.616T>G (p.Ser206Ala)
n.833T>G
c.583T>G (p.Ser195Ala)
c.778T>G (p.Ser260Ala)
c.*515T>G (n.*515T>G)
n.729T>G
c.618T>G
c.745T>G (p.Ser249Ala)
c.682T>G (p.Ser228Ala)
n.892T>G
c.574T>G (p.Ser192Ala)
n.636T>G
19g.17283381C>ACA404744882ANKLE1c.617C>A (p.Ser206Ter)
n.834C>A
c.584C>A (p.Ser195Ter)
c.779C>A (p.Ser260Ter)
c.*516C>A (n.*516C>A)
n.730C>A
c.619C>A
c.746C>A (p.Ser249Ter)
c.683C>A (p.Ser228Ter)
n.893C>A
c.575C>A (p.Ser192Ter)
n.637C>A
19g.17283381C=CA2325780503ANKLE1c.617C= (p.Ser206=)
n.834C=
c.584C= (p.Ser195=)
c.779C= (p.Ser260=)
c.*516C= (n.*516C=)
n.730C=
c.619C=
c.746C= (p.Ser249=)
c.683C= (p.Ser228=)
n.893C=
c.575C= (p.Ser192=)
n.637C=
19g.17283381C>GCA404744883ANKLE1c.617C>G (p.Ser206Trp)
n.834C>G
c.584C>G (p.Ser195Trp)
c.779C>G (p.Ser260Trp)
c.*516C>G (n.*516C>G)
n.730C>G
c.619C>G
c.746C>G (p.Ser249Trp)
c.683C>G (p.Ser228Trp)
n.893C>G
c.575C>G (p.Ser192Trp)
n.637C>G
19g.17283381C>TCA9291148ANKLE1c.617C>T (p.Ser206Leu)
n.834C>T
c.584C>T (p.Ser195Leu)
c.779C>T (p.Ser260Leu)
c.*516C>T (n.*516C>T)
n.730C>T
c.619C>T
c.746C>T (p.Ser249Leu)
c.683C>T (p.Ser228Leu)
n.893C>T
c.575C>T (p.Ser192Leu)
n.637C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283382G>ACA506095564ANKLE1c.618G>A (p.Ser206=)
n.835G>A
c.585G>A (p.Ser195=)
c.780G>A (p.Ser260=)
c.*517G>A (n.*517G>A)
n.731G>A
c.620G>A
c.747G>A (p.Ser249=)
c.684G>A (p.Ser228=)
n.894G>A
c.576G>A (p.Ser192=)
n.638G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17283382G>CCA506095565ANKLE1c.618G>C (p.Ser206=)
n.835G>C
c.585G>C (p.Ser195=)
c.780G>C (p.Ser260=)
c.*517G>C (n.*517G>C)
n.731G>C
c.620G>C
c.747G>C (p.Ser249=)
c.684G>C (p.Ser228=)
n.894G>C
c.576G>C (p.Ser192=)
n.638G>C
19g.17283382G=CA2325780504ANKLE1c.618G= (p.Ser206=)
n.835G=
c.585G= (p.Ser195=)
c.780G= (p.Ser260=)
c.*517G= (n.*517G=)
n.731G=
c.620G=
c.747G= (p.Ser249=)
c.684G= (p.Ser228=)
n.894G=
c.576G= (p.Ser192=)
n.638G=
19g.17283382G>TCA506095566ANKLE1c.618G>T (p.Ser206=)
n.835G>T
c.585G>T (p.Ser195=)
c.780G>T (p.Ser260=)
c.*517G>T (n.*517G>T)
n.731G>T
c.620G>T
c.747G>T (p.Ser249=)
c.684G>T (p.Ser228=)
n.894G>T
c.576G>T (p.Ser192=)
n.638G>T
19g.17283383G>ACA404744884ANKLE1c.619G>A (p.Ala207Thr)
n.836G>A
c.586G>A (p.Ala196Thr)
c.781G>A (p.Ala261Thr)
c.*518G>A (n.*518G>A)
n.732G>A
c.621G>A
c.748G>A (p.Ala250Thr)
c.685G>A (p.Ala229Thr)
n.895G>A
c.577G>A (p.Ala193Thr)
n.639G>A
19g.17283383G>CCA404744885ANKLE1c.619G>C (p.Ala207Pro)
n.836G>C
c.586G>C (p.Ala196Pro)
c.781G>C (p.Ala261Pro)
c.*518G>C (n.*518G>C)
n.732G>C
c.621G>C
c.748G>C (p.Ala250Pro)
c.685G>C (p.Ala229Pro)
n.895G>C
c.577G>C (p.Ala193Pro)
n.639G>C
19g.17283383G>TCA404744886ANKLE1c.619G>T (p.Ala207Ser)
n.836G>T
c.586G>T (p.Ala196Ser)
c.781G>T (p.Ala261Ser)
c.*518G>T (n.*518G>T)
n.732G>T
c.621G>T
c.748G>T (p.Ala250Ser)
c.685G>T (p.Ala229Ser)
n.895G>T
c.577G>T (p.Ala193Ser)
n.639G>T
19g.17283384C>ACA404744887ANKLE1c.620C>A (p.Ala207Glu)
n.837C>A
c.587C>A (p.Ala196Glu)
c.782C>A (p.Ala261Glu)
c.*519C>A (n.*519C>A)
n.733C>A
c.622C>A
c.749C>A (p.Ala250Glu)
c.686C>A (p.Ala229Glu)
n.896C>A
c.578C>A (p.Ala193Glu)
n.640C>A
19g.17283384C=CA2325780505ANKLE1c.620C= (p.Ala207=)
n.837C=
c.587C= (p.Ala196=)
c.782C= (p.Ala261=)
c.*519C= (n.*519C=)
n.733C=
c.622C=
c.749C= (p.Ala250=)
c.686C= (p.Ala229=)
n.896C=
c.578C= (p.Ala193=)
n.640C=
19g.17283384C>GCA404744888ANKLE1c.620C>G (p.Ala207Gly)
n.837C>G
c.587C>G (p.Ala196Gly)
c.782C>G (p.Ala261Gly)
c.*519C>G (n.*519C>G)
n.733C>G
c.622C>G
c.749C>G (p.Ala250Gly)
c.686C>G (p.Ala229Gly)
n.896C>G
c.578C>G (p.Ala193Gly)
n.640C>G
19g.17283384C>TCA9291149ANKLE1c.620C>T (p.Ala207Val)
n.837C>T
c.587C>T (p.Ala196Val)
c.782C>T (p.Ala261Val)
c.*519C>T (n.*519C>T)
n.733C>T
c.622C>T
c.749C>T (p.Ala250Val)
c.686C>T (p.Ala229Val)
n.896C>T
c.578C>T (p.Ala193Val)
n.640C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.17283385G>ACA9291150ANKLE1c.621G>A (p.Ala207=)
n.838G>A
c.588G>A (p.Ala196=)
c.783G>A (p.Ala261=)
c.*520G>A (n.*520G>A)
n.734G>A
c.623G>A
c.750G>A (p.Ala250=)
c.687G>A (p.Ala229=)
n.897G>A
c.579G>A (p.Ala193=)
n.641G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283385G>CCA506095569ANKLE1c.621G>C (p.Ala207=)
n.838G>C
c.588G>C (p.Ala196=)
c.783G>C (p.Ala261=)
c.*520G>C (n.*520G>C)
n.734G>C
c.623G>C
c.750G>C (p.Ala250=)
c.687G>C (p.Ala229=)
n.897G>C
c.579G>C (p.Ala193=)
n.641G>C
19g.17283385G=CA2325780506ANKLE1c.621G= (p.Ala207=)
n.838G=
c.588G= (p.Ala196=)
c.783G= (p.Ala261=)
c.*520G= (n.*520G=)
n.734G=
c.623G=
c.750G= (p.Ala250=)
c.687G= (p.Ala229=)
n.897G=
c.579G= (p.Ala193=)
n.641G=
19g.17283385G>TCA506095570ANKLE1c.621G>T (p.Ala207=)
n.838G>T
c.588G>T (p.Ala196=)
c.783G>T (p.Ala261=)
c.*520G>T (n.*520G>T)
n.734G>T
c.623G>T
c.750G>T (p.Ala250=)
c.687G>T (p.Ala229=)
n.897G>T
c.579G>T (p.Ala193=)
n.641G>T
19g.17283386T>ACA404744889ANKLE1c.622T>A (p.Ser208Thr)
n.839T>A
c.589T>A (p.Ser197Thr)
c.784T>A (p.Ser262Thr)
c.*521T>A (n.*521T>A)
n.735T>A
c.624T>A
c.751T>A (p.Ser251Thr)
c.688T>A (p.Ser230Thr)
n.898T>A
c.580T>A (p.Ser194Thr)
n.642T>A
19g.17283386T>CCA404744890ANKLE1c.622T>C (p.Ser208Pro)
n.839T>C
c.589T>C (p.Ser197Pro)
c.784T>C (p.Ser262Pro)
c.*521T>C (n.*521T>C)
n.735T>C
c.624T>C
c.751T>C (p.Ser251Pro)
c.688T>C (p.Ser230Pro)
n.898T>C
c.580T>C (p.Ser194Pro)
n.642T>C
19g.17283386T>GCA404744891ANKLE1c.622T>G (p.Ser208Ala)
n.839T>G
c.589T>G (p.Ser197Ala)
c.784T>G (p.Ser262Ala)
c.*521T>G (n.*521T>G)
n.735T>G
c.624T>G
c.751T>G (p.Ser251Ala)
c.688T>G (p.Ser230Ala)
n.898T>G
c.580T>G (p.Ser194Ala)
n.642T>G
19g.17283387C>ACA404744894ANKLE1c.623C>A (p.Ser208Tyr)
n.840C>A
c.590C>A (p.Ser197Tyr)
c.785C>A (p.Ser262Tyr)
c.*522C>A (n.*522C>A)
n.736C>A
c.625C>A
c.752C>A (p.Ser251Tyr)
c.689C>A (p.Ser230Tyr)
n.899C>A
c.581C>A (p.Ser194Tyr)
n.643C>A
19g.17283387C>GCA404744893ANKLE1c.623C>G (p.Ser208Cys)
n.840C>G
c.590C>G (p.Ser197Cys)
c.785C>G (p.Ser262Cys)
c.*522C>G (n.*522C>G)
n.736C>G
c.625C>G
c.752C>G (p.Ser251Cys)
c.689C>G (p.Ser230Cys)
n.899C>G
c.581C>G (p.Ser194Cys)
n.643C>G
19g.17283387C>TCA404744892ANKLE1c.623C>T (p.Ser208Phe)
n.840C>T
c.590C>T (p.Ser197Phe)
c.785C>T (p.Ser262Phe)
c.*522C>T (n.*522C>T)
n.736C>T
c.625C>T
c.752C>T (p.Ser251Phe)
c.689C>T (p.Ser230Phe)
n.899C>T
c.581C>T (p.Ser194Phe)
n.643C>T
19g.17283388C>ACA506095575ANKLE1c.624C>A (p.Ser208=)
n.841C>A
c.591C>A (p.Ser197=)
c.786C>A (p.Ser262=)
c.*523C>A (n.*523C>A)
n.737C>A
c.626C>A
c.753C>A (p.Ser251=)
c.690C>A (p.Ser230=)
n.900C>A
c.582C>A (p.Ser194=)
n.644C>A
19g.17283388C=CA2325780507ANKLE1c.624C= (p.Ser208=)
n.841C=
c.591C= (p.Ser197=)
c.786C= (p.Ser262=)
c.*523C= (n.*523C=)
n.737C=
c.626C=
c.753C= (p.Ser251=)
c.690C= (p.Ser230=)
n.900C=
c.582C= (p.Ser194=)
n.644C=
19g.17283388C>GCA506095576ANKLE1c.624C>G (p.Ser208=)
n.841C>G
c.591C>G (p.Ser197=)
c.786C>G (p.Ser262=)
c.*523C>G (n.*523C>G)
n.737C>G
c.626C>G
c.753C>G (p.Ser251=)
c.690C>G (p.Ser230=)
n.900C>G
c.582C>G (p.Ser194=)
n.644C>G
 dbSNP
19g.17283388C>TCA506095577ANKLE1c.624C>T (p.Ser208=)
n.841C>T
c.591C>T (p.Ser197=)
c.786C>T (p.Ser262=)
c.*523C>T (n.*523C>T)
n.737C>T
c.626C>T
c.753C>T (p.Ser251=)
c.690C>T (p.Ser230=)
n.900C>T
c.582C>T (p.Ser194=)
n.644C>T
19g.17283389C>ACA404744895ANKLE1c.625C>A (p.Pro209Thr)
n.842C>A
c.592C>A (p.Pro198Thr)
c.787C>A (p.Pro263Thr)
c.*524C>A (n.*524C>A)
n.738C>A
c.627C>A
c.754C>A (p.Pro252Thr)
c.691C>A (p.Pro231Thr)
n.901C>A
c.583C>A (p.Pro195Thr)
n.645C>A
19g.17283389C>GCA404744897ANKLE1c.625C>G (p.Pro209Ala)
n.842C>G
c.592C>G (p.Pro198Ala)
c.787C>G (p.Pro263Ala)
c.*524C>G (n.*524C>G)
n.738C>G
c.627C>G
c.754C>G (p.Pro252Ala)
c.691C>G (p.Pro231Ala)
n.901C>G
c.583C>G (p.Pro195Ala)
n.645C>G
19g.17283389C>TCA404744896ANKLE1c.625C>T (p.Pro209Ser)
n.842C>T
c.592C>T (p.Pro198Ser)
c.787C>T (p.Pro263Ser)
c.*524C>T (n.*524C>T)
n.738C>T
c.627C>T
c.754C>T (p.Pro252Ser)
c.691C>T (p.Pro231Ser)
n.901C>T
c.583C>T (p.Pro195Ser)
n.645C>T
19g.17283390C>ACA404744898ANKLE1c.626C>A (p.Pro209His)
n.843C>A
c.593C>A (p.Pro198His)
c.788C>A (p.Pro263His)
c.*525C>A (n.*525C>A)
n.739C>A
c.628C>A
c.755C>A (p.Pro252His)
c.692C>A (p.Pro231His)
n.902C>A
c.584C>A (p.Pro195His)
n.646C>A
19g.17283390C=CA2325780508ANKLE1c.626C= (p.Pro209=)
n.843C=
c.593C= (p.Pro198=)
c.788C= (p.Pro263=)
c.*525C= (n.*525C=)
n.739C=
c.628C=
c.755C= (p.Pro252=)
c.692C= (p.Pro231=)
n.902C=
c.584C= (p.Pro195=)
n.646C=
19g.17283390C>GCA9291151ANKLE1c.626C>G (p.Pro209Arg)
n.843C>G
c.593C>G (p.Pro198Arg)
c.788C>G (p.Pro263Arg)
c.*525C>G (n.*525C>G)
n.739C>G
c.628C>G
c.755C>G (p.Pro252Arg)
c.692C>G (p.Pro231Arg)
n.902C>G
c.584C>G (p.Pro195Arg)
n.646C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283390C>TCA9291152ANKLE1c.626C>T (p.Pro209Leu)
n.843C>T
c.593C>T (p.Pro198Leu)
c.788C>T (p.Pro263Leu)
c.*525C>T (n.*525C>T)
n.739C>T
c.628C>T
c.755C>T (p.Pro252Leu)
c.692C>T (p.Pro231Leu)
n.902C>T
c.584C>T (p.Pro195Leu)
n.646C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283391T>ACA506095579ANKLE1c.627T>A (p.Pro209=)
n.844T>A
c.594T>A (p.Pro198=)
c.789T>A (p.Pro263=)
c.*526T>A (n.*526T>A)
n.740T>A
c.629T>A
c.756T>A (p.Pro252=)
c.693T>A (p.Pro231=)
n.903T>A
c.585T>A (p.Pro195=)
n.647T>A
19g.17283391T>CCA506095580ANKLE1c.627T>C (p.Pro209=)
n.844T>C
c.594T>C (p.Pro198=)
c.789T>C (p.Pro263=)
c.*526T>C (n.*526T>C)
n.740T>C
c.629T>C
c.756T>C (p.Pro252=)
c.693T>C (p.Pro231=)
n.903T>C
c.585T>C (p.Pro195=)
n.647T>C
19g.17283391T>GCA506095581ANKLE1c.627T>G (p.Pro209=)
n.844T>G
c.594T>G (p.Pro198=)
c.789T>G (p.Pro263=)
c.*526T>G (n.*526T>G)
n.740T>G
c.629T>G
c.756T>G (p.Pro252=)
c.693T>G (p.Pro231=)
n.903T>G
c.585T>G (p.Pro195=)
n.647T>G
19g.17283392C>ACA404744899ANKLE1c.628C>A (p.Pro210Thr)
n.845C>A
c.595C>A (p.Pro199Thr)
c.790C>A (p.Pro264Thr)
c.*527C>A (n.*527C>A)
n.741C>A
c.630C>A
c.757C>A (p.Pro253Thr)
c.694C>A (p.Pro232Thr)
n.904C>A
c.586C>A (p.Pro196Thr)
n.648C>A
19g.17283392C>GCA404744900ANKLE1c.628C>G (p.Pro210Ala)
n.845C>G
c.595C>G (p.Pro199Ala)
c.790C>G (p.Pro264Ala)
c.*527C>G (n.*527C>G)
n.741C>G
c.630C>G
c.757C>G (p.Pro253Ala)
c.694C>G (p.Pro232Ala)
n.904C>G
c.586C>G (p.Pro196Ala)
n.648C>G
 gnomAD v4
19g.17283392C>TCA404744901ANKLE1c.628C>T (p.Pro210Ser)
n.845C>T
c.595C>T (p.Pro199Ser)
c.790C>T (p.Pro264Ser)
c.*527C>T (n.*527C>T)
n.741C>T
c.630C>T
c.757C>T (p.Pro253Ser)
c.694C>T (p.Pro232Ser)
n.904C>T
c.586C>T (p.Pro196Ser)
n.648C>T
 COSMIC COSMIC COSMIC
19g.17283393C>ACA404744902ANKLE1c.629C>A (p.Pro210Gln)
n.846C>A
c.596C>A (p.Pro199Gln)
c.791C>A (p.Pro264Gln)
c.*528C>A (n.*528C>A)
n.742C>A
c.631C>A
c.758C>A (p.Pro253Gln)
c.695C>A (p.Pro232Gln)
n.905C>A
c.587C>A (p.Pro196Gln)
n.649C>A
19g.17283393C>GCA404744903ANKLE1c.629C>G (p.Pro210Arg)
n.846C>G
c.596C>G (p.Pro199Arg)
c.791C>G (p.Pro264Arg)
c.*528C>G (n.*528C>G)
n.742C>G
c.631C>G
c.758C>G (p.Pro253Arg)
c.695C>G (p.Pro232Arg)
n.905C>G
c.587C>G (p.Pro196Arg)
n.649C>G
19g.17283393C>TCA404744904ANKLE1c.629C>T (p.Pro210Leu)
n.846C>T
c.596C>T (p.Pro199Leu)
c.791C>T (p.Pro264Leu)
c.*528C>T (n.*528C>T)
n.742C>T
c.631C>T
c.758C>T (p.Pro253Leu)
c.695C>T (p.Pro232Leu)
n.905C>T
c.587C>T (p.Pro196Leu)
n.649C>T
 gnomAD v4
19g.17283393_17283394delinsCACA2325780509ANKLE1c.629_630delinsCA (p.Pro210=)
n.846_847delinsCA
c.596_597delinsCA (p.Pro199=)
c.791_792delinsCA (p.Pro264=)
c.*528_*529delinsCA (n.*528_*529delinsCA)
n.742_743delinsCA
c.631_632delinsCA
c.758_759delinsCA (p.Pro253=)
c.695_696delinsCA (p.Pro232=)
n.905_906delinsCA
c.587_588delinsCA (p.Pro196=)
n.649_650delinsCA
19g.17283394delCA632133553ANKLE1c.630del (p.His212ThrfsTer?)
n.847del
c.597del (p.His201ThrfsTer?)
c.792del (p.His266ThrfsTer?)
c.*529del (n.*529del)
n.743del
c.632del
c.759del (p.His255ThrfsTer?)
c.696del (p.His234ThrfsTer?)
n.906del
c.588del (p.His198ThrfsTer?)
n.650del
 dbSNP gnomAD v2 gnomAD v4
19g.17283394A>CCA506095583ANKLE1c.630A>C (p.Pro210=)
n.847A>C
c.597A>C (p.Pro199=)
c.792A>C (p.Pro264=)
c.*529A>C (n.*529A>C)
n.743A>C
c.632A>C
c.759A>C (p.Pro253=)
c.696A>C (p.Pro232=)
n.906A>C
c.588A>C (p.Pro196=)
n.650A>C
19g.17283394A>GCA506095584ANKLE1c.630A>G (p.Pro210=)
n.847A>G
c.597A>G (p.Pro199=)
c.792A>G (p.Pro264=)
c.*529A>G (n.*529A>G)
n.743A>G
c.632A>G
c.759A>G (p.Pro253=)
c.696A>G (p.Pro232=)
n.906A>G
c.588A>G (p.Pro196=)
n.650A>G
 gnomAD v4
19g.17283394A>TCA506095585ANKLE1c.630A>T (p.Pro210=)
n.847A>T
c.597A>T (p.Pro199=)
c.792A>T (p.Pro264=)
c.*529A>T (n.*529A>T)
n.743A>T
c.632A>T
c.759A>T (p.Pro253=)
c.696A>T (p.Pro232=)
n.906A>T
c.588A>T (p.Pro196=)
n.650A>T
19g.17283394dupCA2583322995ANKLE1c.630dup (p.Gly211ArgfsTer16)
n.847dup
c.597dup (p.Gly200ArgfsTer16)
c.792dup (p.Gly265ArgfsTer16)
c.*529dup (n.*529dup)
n.743dup
c.632dup
c.759dup (p.Gly254ArgfsTer16)
c.696dup (p.Gly233ArgfsTer16)
n.906dup
c.588dup (p.Gly197ArgfsTer16)
n.650dup
 gnomAD v4
19g.17283395G>ACA306086301ANKLE1c.631G>A (p.Gly211Arg)
n.848G>A
c.598G>A (p.Gly200Arg)
c.793G>A (p.Gly265Arg)
c.*530G>A (n.*530G>A)
n.744G>A
c.633G>A
c.760G>A (p.Gly254Arg)
c.697G>A (p.Gly233Arg)
n.907G>A
c.589G>A (p.Gly197Arg)
n.651G>A
 dbSNP gnomAD v4
19g.17283395G>CCA404744905ANKLE1c.631G>C (p.Gly211Arg)
n.848G>C
c.598G>C (p.Gly200Arg)
c.793G>C (p.Gly265Arg)
c.*530G>C (n.*530G>C)
n.744G>C
c.633G>C
c.760G>C (p.Gly254Arg)
c.697G>C (p.Gly233Arg)
n.907G>C
c.589G>C (p.Gly197Arg)
n.651G>C
19g.17283395G=CA2325780510ANKLE1c.631G= (p.Gly211=)
n.848G=
c.598G= (p.Gly200=)
c.793G= (p.Gly265=)
c.*530G= (n.*530G=)
n.744G=
c.633G=
c.760G= (p.Gly254=)
c.697G= (p.Gly233=)
n.907G=
c.589G= (p.Gly197=)
n.651G=
19g.17283395G>TCA404744906ANKLE1c.631G>T (p.Gly211Trp)
n.848G>T
c.598G>T (p.Gly200Trp)
c.793G>T (p.Gly265Trp)
c.*530G>T (n.*530G>T)
n.744G>T
c.633G>T
c.760G>T (p.Gly254Trp)
c.697G>T (p.Gly233Trp)
n.907G>T
c.589G>T (p.Gly197Trp)
n.651G>T
19g.17283396G>ACA404744909ANKLE1c.632G>A (p.Gly211Glu)
n.849G>A
c.599G>A (p.Gly200Glu)
c.794G>A (p.Gly265Glu)
c.*531G>A (n.*531G>A)
n.745G>A
c.634G>A
c.761G>A (p.Gly254Glu)
c.698G>A (p.Gly233Glu)
n.908G>A
c.590G>A (p.Gly197Glu)
n.652G>A
 dbSNP gnomAD v4
19g.17283396G>CCA404744907ANKLE1c.632G>C (p.Gly211Ala)
n.849G>C
c.599G>C (p.Gly200Ala)
c.794G>C (p.Gly265Ala)
c.*531G>C (n.*531G>C)
n.745G>C
c.634G>C
c.761G>C (p.Gly254Ala)
c.698G>C (p.Gly233Ala)
n.908G>C
c.590G>C (p.Gly197Ala)
n.652G>C
19g.17283396G=CA2325780511ANKLE1c.632G= (p.Gly211=)
n.849G=
c.599G= (p.Gly200=)
c.794G= (p.Gly265=)
c.*531G= (n.*531G=)
n.745G=
c.634G=
c.761G= (p.Gly254=)
c.698G= (p.Gly233=)
n.908G=
c.590G= (p.Gly197=)
n.652G=
19g.17283396G>TCA404744908ANKLE1c.632G>T (p.Gly211Val)
n.849G>T
c.599G>T (p.Gly200Val)
c.794G>T (p.Gly265Val)
c.*531G>T (n.*531G>T)
n.745G>T
c.634G>T
c.761G>T (p.Gly254Val)
c.698G>T (p.Gly233Val)
n.908G>T
c.590G>T (p.Gly197Val)
n.652G>T
19g.17283397G>ACA506095589ANKLE1c.633G>A (p.Gly211=)
n.850G>A
c.600G>A (p.Gly200=)
c.795G>A (p.Gly265=)
c.*532G>A (n.*532G>A)
n.746G>A
c.635G>A
c.762G>A (p.Gly254=)
c.699G>A (p.Gly233=)
n.909G>A
c.591G>A (p.Gly197=)
n.653G>A
19g.17283397G>CCA506095590ANKLE1c.633G>C (p.Gly211=)
n.850G>C
c.600G>C (p.Gly200=)
c.795G>C (p.Gly265=)
c.*532G>C (n.*532G>C)
n.746G>C
c.635G>C
c.762G>C (p.Gly254=)
c.699G>C (p.Gly233=)
n.909G>C
c.591G>C (p.Gly197=)
n.653G>C
19g.17283397G>TCA506095591ANKLE1c.633G>T (p.Gly211=)
n.850G>T
c.600G>T (p.Gly200=)
c.795G>T (p.Gly265=)
c.*532G>T (n.*532G>T)
n.746G>T
c.635G>T
c.762G>T (p.Gly254=)
c.699G>T (p.Gly233=)
n.909G>T
c.591G>T (p.Gly197=)
n.653G>T
19g.17283398C>ACA404744910ANKLE1c.634C>A (p.His212Asn)
n.851C>A
c.601C>A (p.His201Asn)
c.796C>A (p.His266Asn)
c.*533C>A (n.*533C>A)
n.747C>A
c.636C>A
c.763C>A (p.His255Asn)
c.700C>A (p.His234Asn)
n.910C>A
c.592C>A (p.His198Asn)
n.654C>A
19g.17283398C=CA2325780512ANKLE1c.634C= (p.His212=)
n.851C=
c.601C= (p.His201=)
c.796C= (p.His266=)
c.*533C= (n.*533C=)
n.747C=
c.636C=
c.763C= (p.His255=)
c.700C= (p.His234=)
n.910C=
c.592C= (p.His198=)
n.654C=
19g.17283398C>GCA404744911ANKLE1c.634C>G (p.His212Asp)
n.851C>G
c.601C>G (p.His201Asp)
c.796C>G (p.His266Asp)
c.*533C>G (n.*533C>G)
n.747C>G
c.636C>G
c.763C>G (p.His255Asp)
c.700C>G (p.His234Asp)
n.910C>G
c.592C>G (p.His198Asp)
n.654C>G
19g.17283398C>TCA404744912ANKLE1c.634C>T (p.His212Tyr)
n.851C>T
c.601C>T (p.His201Tyr)
c.796C>T (p.His266Tyr)
c.*533C>T (n.*533C>T)
n.747C>T
c.636C>T
c.763C>T (p.His255Tyr)
c.700C>T (p.His234Tyr)
n.910C>T
c.592C>T (p.His198Tyr)
n.654C>T
 dbSNP gnomAD v4
19g.17283399A=CA2325780513ANKLE1c.635A= (p.His212=)
n.852A=
c.602A= (p.His201=)
c.797A= (p.His266=)
c.*534A= (n.*534A=)
n.748A=
c.637A=
c.764A= (p.His255=)
c.701A= (p.His234=)
n.911A=
c.593A= (p.His198=)
n.655A=
19g.17283399A>CCA404744913ANKLE1c.635A>C (p.His212Pro)
n.852A>C
c.602A>C (p.His201Pro)
c.797A>C (p.His266Pro)
c.*534A>C (n.*534A>C)
n.748A>C
c.637A>C
c.764A>C (p.His255Pro)
c.701A>C (p.His234Pro)
n.911A>C
c.593A>C (p.His198Pro)
n.655A>C
 dbSNP
19g.17283399A>GCA404744914ANKLE1c.635A>G (p.His212Arg)
n.852A>G
c.602A>G (p.His201Arg)
c.797A>G (p.His266Arg)
c.*534A>G (n.*534A>G)
n.748A>G
c.637A>G
c.764A>G (p.His255Arg)
c.701A>G (p.His234Arg)
n.911A>G
c.593A>G (p.His198Arg)
n.655A>G
19g.17283399A>TCA404744915ANKLE1c.635A>T (p.His212Leu)
n.852A>T
c.602A>T (p.His201Leu)
c.797A>T (p.His266Leu)
c.*534A>T (n.*534A>T)
n.748A>T
c.637A>T
c.764A>T (p.His255Leu)
c.701A>T (p.His234Leu)
n.911A>T
c.593A>T (p.His198Leu)
n.655A>T
19g.17283400C>ACA404744916ANKLE1c.636C>A (p.His212Gln)
n.853C>A
c.603C>A (p.His201Gln)
c.798C>A (p.His266Gln)
c.*535C>A (n.*535C>A)
n.749C>A
c.638C>A
c.765C>A (p.His255Gln)
c.702C>A (p.His234Gln)
n.912C>A
c.594C>A (p.His198Gln)
n.656C>A
19g.17283400C=CA2325780514ANKLE1c.636C= (p.His212=)
n.853C=
c.603C= (p.His201=)
c.798C= (p.His266=)
c.*535C= (n.*535C=)
n.749C=
c.638C=
c.765C= (p.His255=)
c.702C= (p.His234=)
n.912C=
c.594C= (p.His198=)
n.656C=
19g.17283400C>GCA404744917ANKLE1c.636C>G (p.His212Gln)
n.853C>G
c.603C>G (p.His201Gln)
c.798C>G (p.His266Gln)
c.*535C>G (n.*535C>G)
n.749C>G
c.638C>G
c.765C>G (p.His255Gln)
c.702C>G (p.His234Gln)
n.912C>G
c.594C>G (p.His198Gln)
n.656C>G
19g.17283400C>TCA506095592ANKLE1c.636C>T (p.His212=)
n.853C>T
c.603C>T (p.His201=)
c.798C>T (p.His266=)
c.*535C>T (n.*535C>T)
n.749C>T
c.638C>T
c.765C>T (p.His255=)
c.702C>T (p.His234=)
n.912C>T
c.594C>T (p.His198=)
n.656C>T
 dbSNP gnomAD v3 gnomAD v4
19g.17283401T>ACA404744918ANKLE1c.637T>A (p.Trp213Arg)
n.854T>A
c.604T>A (p.Trp202Arg)
c.799T>A (p.Trp267Arg)
c.*536T>A (n.*536T>A)
n.750T>A
c.639T>A
c.766T>A (p.Trp256Arg)
c.703T>A (p.Trp235Arg)
n.913T>A
c.595T>A (p.Trp199Arg)
n.657T>A
19g.17283401T>CCA404744919ANKLE1c.637T>C (p.Trp213Arg)
n.854T>C
c.604T>C (p.Trp202Arg)
c.799T>C (p.Trp267Arg)
c.*536T>C (n.*536T>C)
n.750T>C
c.639T>C
c.766T>C (p.Trp256Arg)
c.703T>C (p.Trp235Arg)
n.913T>C
c.595T>C (p.Trp199Arg)
n.657T>C
 gnomAD v4
19g.17283401T>GCA404744920ANKLE1c.637T>G (p.Trp213Gly)
n.854T>G
c.604T>G (p.Trp202Gly)
c.799T>G (p.Trp267Gly)
c.*536T>G (n.*536T>G)
n.750T>G
c.639T>G
c.766T>G (p.Trp256Gly)
c.703T>G (p.Trp235Gly)
n.913T>G
c.595T>G (p.Trp199Gly)
n.657T>G
19g.17283402G>ACA404744923ANKLE1c.638G>A (p.Trp213Ter)
n.855G>A
c.605G>A (p.Trp202Ter)
c.800G>A (p.Trp267Ter)
c.*537G>A (n.*537G>A)
n.751G>A
c.640G>A
c.767G>A (p.Trp256Ter)
c.704G>A (p.Trp235Ter)
n.914G>A
c.596G>A (p.Trp199Ter)
n.658G>A
 gnomAD v4
19g.17283402G>CCA404744922ANKLE1c.638G>C (p.Trp213Ser)
n.855G>C
c.605G>C (p.Trp202Ser)
c.800G>C (p.Trp267Ser)
c.*537G>C (n.*537G>C)
n.751G>C
c.640G>C
c.767G>C (p.Trp256Ser)
c.704G>C (p.Trp235Ser)
n.914G>C
c.596G>C (p.Trp199Ser)
n.658G>C
19g.17283402G>TCA404744921ANKLE1c.638G>T (p.Trp213Leu)
n.855G>T
c.605G>T (p.Trp202Leu)
c.800G>T (p.Trp267Leu)
c.*537G>T (n.*537G>T)
n.751G>T
c.640G>T
c.767G>T (p.Trp256Leu)
c.704G>T (p.Trp235Leu)
n.914G>T
c.596G>T (p.Trp199Leu)
n.658G>T
19g.17283403G>ACA404744924ANKLE1c.639G>A (p.Trp213Ter)
n.856G>A
c.606G>A (p.Trp202Ter)
c.801G>A (p.Trp267Ter)
c.*538G>A (n.*538G>A)
n.752G>A
c.641G>A
c.768G>A (p.Trp256Ter)
c.705G>A (p.Trp235Ter)
n.915G>A
c.597G>A (p.Trp199Ter)
n.659G>A
 gnomAD v4
19g.17283403G>CCA404744925ANKLE1c.639G>C (p.Trp213Cys)
n.856G>C
c.606G>C (p.Trp202Cys)
c.801G>C (p.Trp267Cys)
c.*538G>C (n.*538G>C)
n.752G>C
c.641G>C
c.768G>C (p.Trp256Cys)
c.705G>C (p.Trp235Cys)
n.915G>C
c.597G>C (p.Trp199Cys)
n.659G>C
19g.17283403G>TCA404744926ANKLE1c.639G>T (p.Trp213Cys)
n.856G>T
c.606G>T (p.Trp202Cys)
c.801G>T (p.Trp267Cys)
c.*538G>T (n.*538G>T)
n.752G>T
c.641G>T
c.768G>T (p.Trp256Cys)
c.705G>T (p.Trp235Cys)
n.915G>T
c.597G>T (p.Trp199Cys)
n.659G>T
19g.17283404G>ACA404744927ANKLE1c.640G>A (p.Asp214Asn)
n.857G>A
c.607G>A (p.Asp203Asn)
c.802G>A (p.Asp268Asn)
c.*539G>A (n.*539G>A)
n.753G>A
c.642G>A
c.769G>A (p.Asp257Asn)
c.706G>A (p.Asp236Asn)
n.916G>A
c.598G>A (p.Asp200Asn)
n.660G>A
19g.17283404G>CCA404744928ANKLE1c.640G>C (p.Asp214His)
n.857G>C
c.607G>C (p.Asp203His)
c.802G>C (p.Asp268His)
c.*539G>C (n.*539G>C)
n.753G>C
c.642G>C
c.769G>C (p.Asp257His)
c.706G>C (p.Asp236His)
n.916G>C
c.598G>C (p.Asp200His)
n.660G>C
19g.17283404G=CA2325780515ANKLE1c.640G= (p.Asp214=)
n.857G=
c.607G= (p.Asp203=)
c.802G= (p.Asp268=)
c.*539G= (n.*539G=)
n.753G=
c.642G=
c.769G= (p.Asp257=)
c.706G= (p.Asp236=)
n.916G=
c.598G= (p.Asp200=)
n.660G=
19g.17283404G>TCA9291153ANKLE1c.640G>T (p.Asp214Tyr)
n.857G>T
c.607G>T (p.Asp203Tyr)
c.802G>T (p.Asp268Tyr)
c.*539G>T (n.*539G>T)
n.753G>T
c.642G>T
c.769G>T (p.Asp257Tyr)
c.706G>T (p.Asp236Tyr)
n.916G>T
c.598G>T (p.Asp200Tyr)
n.660G>T
 dbSNP ExAC
19g.17283405A>CCA404744931ANKLE1c.641A>C (p.Asp214Ala)
n.858A>C
c.608A>C (p.Asp203Ala)
c.803A>C (p.Asp268Ala)
c.*540A>C (n.*540A>C)
n.754A>C
c.643A>C
c.770A>C (p.Asp257Ala)
c.707A>C (p.Asp236Ala)
n.917A>C
c.599A>C (p.Asp200Ala)
n.661A>C
19g.17283405A>GCA404744929ANKLE1c.641A>G (p.Asp214Gly)
n.858A>G
c.608A>G (p.Asp203Gly)
c.803A>G (p.Asp268Gly)
c.*540A>G (n.*540A>G)
n.754A>G
c.643A>G
c.770A>G (p.Asp257Gly)
c.707A>G (p.Asp236Gly)
n.917A>G
c.599A>G (p.Asp200Gly)
n.661A>G
19g.17283405A>TCA404744930ANKLE1c.641A>T (p.Asp214Val)
n.858A>T
c.608A>T (p.Asp203Val)
c.803A>T (p.Asp268Val)
c.*540A>T (n.*540A>T)
n.754A>T
c.643A>T
c.770A>T (p.Asp257Val)
c.707A>T (p.Asp236Val)
n.917A>T
c.599A>T (p.Asp200Val)
n.661A>T
19g.17283406T>ACA404744932ANKLE1c.642T>A (p.Asp214Glu)
n.859T>A
c.609T>A (p.Asp203Glu)
c.804T>A (p.Asp268Glu)
c.*541T>A (n.*541T>A)
n.755T>A
c.644T>A
c.771T>A (p.Asp257Glu)
c.708T>A (p.Asp236Glu)
n.918T>A
c.600T>A (p.Asp200Glu)
n.662T>A
19g.17283406T>CCA506095599ANKLE1c.642T>C (p.Asp214=)
n.859T>C
c.609T>C (p.Asp203=)
c.804T>C (p.Asp268=)
c.*541T>C (n.*541T>C)
n.755T>C
c.644T>C
c.771T>C (p.Asp257=)
c.708T>C (p.Asp236=)
n.918T>C
c.600T>C (p.Asp200=)
n.662T>C
19g.17283406T>GCA404744933ANKLE1c.642T>G (p.Asp214Glu)
n.859T>G
c.609T>G (p.Asp203Glu)
c.804T>G (p.Asp268Glu)
c.*541T>G (n.*541T>G)
n.755T>G
c.644T>G
c.771T>G (p.Asp257Glu)
c.708T>G (p.Asp236Glu)
n.918T>G
c.600T>G (p.Asp200Glu)
n.662T>G
19g.17283407T>ACA404744934ANKLE1c.643T>A (p.Tyr215Asn)
n.860T>A
c.610T>A (p.Tyr204Asn)
c.805T>A (p.Tyr269Asn)
c.*542T>A (n.*542T>A)
n.756T>A
c.645T>A
c.772T>A (p.Tyr258Asn)
c.709T>A (p.Tyr237Asn)
n.919T>A
c.601T>A (p.Tyr201Asn)
n.663T>A
19g.17283407T>CCA404744935ANKLE1c.643T>C (p.Tyr215His)
n.860T>C
c.610T>C (p.Tyr204His)
c.805T>C (p.Tyr269His)
c.*542T>C (n.*542T>C)
n.756T>C
c.645T>C
c.772T>C (p.Tyr258His)
c.709T>C (p.Tyr237His)
n.919T>C
c.601T>C (p.Tyr201His)
n.663T>C
19g.17283407T>GCA404744936ANKLE1c.643T>G (p.Tyr215Asp)
n.860T>G
c.610T>G (p.Tyr204Asp)
c.805T>G (p.Tyr269Asp)
c.*542T>G (n.*542T>G)
n.756T>G
c.645T>G
c.772T>G (p.Tyr258Asp)
c.709T>G (p.Tyr237Asp)
n.919T>G
c.601T>G (p.Tyr201Asp)
n.663T>G
19g.17283408A>CCA404744937ANKLE1c.644A>C (p.Tyr215Ser)
n.861A>C
c.611A>C (p.Tyr204Ser)
c.806A>C (p.Tyr269Ser)
c.*543A>C (n.*543A>C)
n.757A>C
c.646A>C
c.773A>C (p.Tyr258Ser)
c.710A>C (p.Tyr237Ser)
n.920A>C
c.602A>C (p.Tyr201Ser)
n.664A>C
19g.17283408A>GCA404744939ANKLE1c.644A>G (p.Tyr215Cys)
n.861A>G
c.611A>G (p.Tyr204Cys)
c.806A>G (p.Tyr269Cys)
c.*543A>G (n.*543A>G)
n.757A>G
c.646A>G
c.773A>G (p.Tyr258Cys)
c.710A>G (p.Tyr237Cys)
n.920A>G
c.602A>G (p.Tyr201Cys)
n.664A>G
19g.17283408A>TCA404744938ANKLE1c.644A>T (p.Tyr215Phe)
n.861A>T
c.611A>T (p.Tyr204Phe)
c.806A>T (p.Tyr269Phe)
c.*543A>T (n.*543A>T)
n.757A>T
c.646A>T
c.773A>T (p.Tyr258Phe)
c.710A>T (p.Tyr237Phe)
n.920A>T
c.602A>T (p.Tyr201Phe)
n.664A>T
19g.17283409C>ACA404744940ANKLE1c.645C>A (p.Tyr215Ter)
n.862C>A
c.612C>A (p.Tyr204Ter)
c.807C>A (p.Tyr269Ter)
c.*544C>A (n.*544C>A)
n.758C>A
c.647C>A
c.774C>A (p.Tyr258Ter)
c.711C>A (p.Tyr237Ter)
n.921C>A
c.603C>A (p.Tyr201Ter)
n.665C>A
19g.17283409C>GCA404744941ANKLE1c.645C>G (p.Tyr215Ter)
n.862C>G
c.612C>G (p.Tyr204Ter)
c.807C>G (p.Tyr269Ter)
c.*544C>G (n.*544C>G)
n.758C>G
c.647C>G
c.774C>G (p.Tyr258Ter)
c.711C>G (p.Tyr237Ter)
n.921C>G
c.603C>G (p.Tyr201Ter)
n.665C>G
19g.17283409C>TCA506095602ANKLE1c.645C>T (p.Tyr215=)
n.862C>T
c.612C>T (p.Tyr204=)
c.807C>T (p.Tyr269=)
c.*544C>T (n.*544C>T)
n.758C>T
c.647C>T
c.774C>T (p.Tyr258=)
c.711C>T (p.Tyr237=)
n.921C>T
c.603C>T (p.Tyr201=)
n.665C>T
19g.17283410A=CA2325780516ANKLE1c.646A= (p.Ser216=)
n.863A=
c.613A= (p.Ser205=)
c.808A= (p.Ser270=)
c.*545A= (n.*545A=)
n.759A=
c.648A=
c.775A= (p.Ser259=)
c.712A= (p.Ser238=)
n.922A=
c.604A= (p.Ser202=)
n.666A=
19g.17283410A>CCA404744942ANKLE1c.646A>C (p.Ser216Arg)
n.863A>C
c.613A>C (p.Ser205Arg)
c.808A>C (p.Ser270Arg)
c.*545A>C (n.*545A>C)
n.759A>C
c.648A>C
c.775A>C (p.Ser259Arg)
c.712A>C (p.Ser238Arg)
n.922A>C
c.604A>C (p.Ser202Arg)
n.666A>C
19g.17283410A>GCA404744943ANKLE1c.646A>G (p.Ser216Gly)
n.863A>G
c.613A>G (p.Ser205Gly)
c.808A>G (p.Ser270Gly)
c.*545A>G (n.*545A>G)
n.759A>G
c.648A>G
c.775A>G (p.Ser259Gly)
c.712A>G (p.Ser238Gly)
n.922A>G
c.604A>G (p.Ser202Gly)
n.666A>G
 dbSNP
19g.17283410A>TCA404744944ANKLE1c.646A>T (p.Ser216Cys)
n.863A>T
c.613A>T (p.Ser205Cys)
c.808A>T (p.Ser270Cys)
c.*545A>T (n.*545A>T)
n.759A>T
c.648A>T
c.775A>T (p.Ser259Cys)
c.712A>T (p.Ser238Cys)
n.922A>T
c.604A>T (p.Ser202Cys)
n.666A>T
19g.17283411G>ACA404744945ANKLE1c.647G>A (p.Ser216Asn)
n.864G>A
c.614G>A (p.Ser205Asn)
c.809G>A (p.Ser270Asn)
c.*546G>A (n.*546G>A)
n.760G>A
c.649G>A
c.776G>A (p.Ser259Asn)
c.713G>A (p.Ser238Asn)
n.923G>A
c.605G>A (p.Ser202Asn)
n.667G>A
 dbSNP gnomAD v4
19g.17283411G>CCA404744946ANKLE1c.647G>C (p.Ser216Thr)
n.864G>C
c.614G>C (p.Ser205Thr)
c.809G>C (p.Ser270Thr)
c.*546G>C (n.*546G>C)
n.760G>C
c.649G>C
c.776G>C (p.Ser259Thr)
c.713G>C (p.Ser238Thr)
n.923G>C
c.605G>C (p.Ser202Thr)
n.667G>C
19g.17283411G=CA2325780517ANKLE1c.647G= (p.Ser216=)
n.864G=
c.614G= (p.Ser205=)
c.809G= (p.Ser270=)
c.*546G= (n.*546G=)
n.760G=
c.649G=
c.776G= (p.Ser259=)
c.713G= (p.Ser238=)
n.923G=
c.605G= (p.Ser202=)
n.667G=
19g.17283411G>TCA404744947ANKLE1c.647G>T (p.Ser216Ile)
n.864G>T
c.614G>T (p.Ser205Ile)
c.809G>T (p.Ser270Ile)
c.*546G>T (n.*546G>T)
n.760G>T
c.649G>T
c.776G>T (p.Ser259Ile)
c.713G>T (p.Ser238Ile)
n.923G>T
c.605G>T (p.Ser202Ile)
n.667G>T
19g.17283412C>ACA404744948ANKLE1c.648C>A (p.Ser216Arg)
n.865C>A
c.615C>A (p.Ser205Arg)
c.810C>A (p.Ser270Arg)
c.*547C>A (n.*547C>A)
n.761C>A
c.650C>A
c.777C>A (p.Ser259Arg)
c.714C>A (p.Ser238Arg)
n.924C>A
c.606C>A (p.Ser202Arg)
n.668C>A
19g.17283412C>GCA404744949ANKLE1c.648C>G (p.Ser216Arg)
n.865C>G
c.615C>G (p.Ser205Arg)
c.810C>G (p.Ser270Arg)
c.*547C>G (n.*547C>G)
n.761C>G
c.650C>G
c.777C>G (p.Ser259Arg)
c.714C>G (p.Ser238Arg)
n.924C>G
c.606C>G (p.Ser202Arg)
n.668C>G
19g.17283412C>TCA506095605ANKLE1c.648C>T (p.Ser216=)
n.865C>T
c.615C>T (p.Ser205=)
c.810C>T (p.Ser270=)
c.*547C>T (n.*547C>T)
n.761C>T
c.650C>T
c.777C>T (p.Ser259=)
c.714C>T (p.Ser238=)
n.924C>T
c.606C>T (p.Ser202=)
n.668C>T
 gnomAD v4 COSMIC COSMIC COSMIC
19g.17283413T>ACA404744952ANKLE1c.649T>A (p.Ser217Thr)
n.866T>A
c.616T>A (p.Ser206Thr)
c.811T>A (p.Ser271Thr)
c.*548T>A (n.*548T>A)
n.762T>A
c.651T>A
c.778T>A (p.Ser260Thr)
c.715T>A (p.Ser239Thr)
n.925T>A
c.607T>A (p.Ser203Thr)
n.669T>A
19g.17283413T>CCA404744950ANKLE1c.649T>C (p.Ser217Pro)
n.866T>C
c.616T>C (p.Ser206Pro)
c.811T>C (p.Ser271Pro)
c.*548T>C (n.*548T>C)
n.762T>C
c.651T>C
c.778T>C (p.Ser260Pro)
c.715T>C (p.Ser239Pro)
n.925T>C
c.607T>C (p.Ser203Pro)
n.669T>C
19g.17283413T>GCA404744951ANKLE1c.649T>G (p.Ser217Ala)
n.866T>G
c.616T>G (p.Ser206Ala)
c.811T>G (p.Ser271Ala)
c.*548T>G (n.*548T>G)
n.762T>G
c.651T>G
c.778T>G (p.Ser260Ala)
c.715T>G (p.Ser239Ala)
n.925T>G
c.607T>G (p.Ser203Ala)
n.669T>G
19g.17283414C>ACA404744953ANKLE1c.650C>A (p.Ser217Ter)
n.867C>A
c.617C>A (p.Ser206Ter)
c.812C>A (p.Ser271Ter)
c.*549C>A (n.*549C>A)
n.763C>A
c.652C>A
c.779C>A (p.Ser260Ter)
c.716C>A (p.Ser239Ter)
n.926C>A
c.608C>A (p.Ser203Ter)
n.670C>A
19g.17283414C=CA2325780518ANKLE1c.650C= (p.Ser217=)
n.867C=
c.617C= (p.Ser206=)
c.812C= (p.Ser271=)
c.*549C= (n.*549C=)
n.763C=
c.652C=
c.779C= (p.Ser260=)
c.716C= (p.Ser239=)
n.926C=
c.608C= (p.Ser203=)
n.670C=
19g.17283414C>GCA404744954ANKLE1c.650C>G (p.Ser217Ter)
n.867C>G
c.617C>G (p.Ser206Ter)
c.812C>G (p.Ser271Ter)
c.*549C>G (n.*549C>G)
n.763C>G
c.652C>G
c.779C>G (p.Ser260Ter)
c.716C>G (p.Ser239Ter)
n.926C>G
c.608C>G (p.Ser203Ter)
n.670C>G
 dbSNP gnomAD v4
19g.17283414C>TCA9291154ANKLE1c.650C>T (p.Ser217Leu)
n.867C>T
c.617C>T (p.Ser206Leu)
c.812C>T (p.Ser271Leu)
c.*549C>T (n.*549C>T)
n.763C>T
c.652C>T
c.779C>T (p.Ser260Leu)
c.716C>T (p.Ser239Leu)
n.926C>T
c.608C>T (p.Ser203Leu)
n.670C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283415A>CCA506095607ANKLE1c.651A>C (p.Ser217=)
n.868A>C
c.618A>C (p.Ser206=)
c.813A>C (p.Ser271=)
c.*550A>C (n.*550A>C)
n.764A>C
c.653A>C
c.780A>C (p.Ser260=)
c.717A>C (p.Ser239=)
n.927A>C
c.609A>C (p.Ser203=)
n.671A>C
 gnomAD v4
19g.17283415A>GCA506095608ANKLE1c.651A>G (p.Ser217=)
n.868A>G
c.618A>G (p.Ser206=)
c.813A>G (p.Ser271=)
c.*550A>G (n.*550A>G)
n.764A>G
c.653A>G
c.780A>G (p.Ser260=)
c.717A>G (p.Ser239=)
n.927A>G
c.609A>G (p.Ser203=)
n.671A>G
19g.17283415A>TCA506095609ANKLE1c.651A>T (p.Ser217=)
n.868A>T
c.618A>T (p.Ser206=)
c.813A>T (p.Ser271=)
c.*550A>T (n.*550A>T)
n.764A>T
c.653A>T
c.780A>T (p.Ser260=)
c.717A>T (p.Ser239=)
n.927A>T
c.609A>T (p.Ser203=)
n.671A>T
19g.17283415dupCA920071424ANKLE1c.651dup (p.Asp218ArgfsTer9)
n.868dup
c.618dup (p.Asp207ArgfsTer9)
c.813dup (p.Asp272ArgfsTer9)
c.*550dup (n.*550dup)
n.764dup
c.653dup
c.780dup (p.Asp261ArgfsTer9)
c.717dup (p.Asp240ArgfsTer9)
n.927dup
c.609dup (p.Asp204ArgfsTer9)
n.671dup
 dbSNP gnomAD v4
19g.17283416G>ACA404744955ANKLE1c.652G>A (p.Asp218Asn)
n.869G>A
c.619G>A (p.Asp207Asn)
c.814G>A (p.Asp272Asn)
c.*551G>A (n.*551G>A)
n.765G>A
c.654G>A
c.781G>A (p.Asp261Asn)
c.718G>A (p.Asp240Asn)
n.928G>A
c.610G>A (p.Asp204Asn)
n.672G>A
19g.17283416G>CCA404744957ANKLE1c.652G>C (p.Asp218His)
n.869G>C
c.619G>C (p.Asp207His)
c.814G>C (p.Asp272His)
c.*551G>C (n.*551G>C)
n.765G>C
c.654G>C
c.781G>C (p.Asp261His)
c.718G>C (p.Asp240His)
n.928G>C
c.610G>C (p.Asp204His)
n.672G>C
 dbSNP
19g.17283416G>TCA404744956ANKLE1c.652G>T (p.Asp218Tyr)
n.869G>T
c.619G>T (p.Asp207Tyr)
c.814G>T (p.Asp272Tyr)
c.*551G>T (n.*551G>T)
n.765G>T
c.654G>T
c.781G>T (p.Asp261Tyr)
c.718G>T (p.Asp240Tyr)
n.928G>T
c.610G>T (p.Asp204Tyr)
n.672G>T
19g.17283417A>CCA404744958ANKLE1c.653A>C (p.Asp218Ala)
n.870A>C
c.620A>C (p.Asp207Ala)
c.815A>C (p.Asp272Ala)
c.*552A>C (n.*552A>C)
n.766A>C
c.655A>C
c.782A>C (p.Asp261Ala)
c.719A>C (p.Asp240Ala)
n.929A>C
c.611A>C (p.Asp204Ala)
n.673A>C
19g.17283417A>GCA404744960ANKLE1c.653A>G (p.Asp218Gly)
n.870A>G
c.620A>G (p.Asp207Gly)
c.815A>G (p.Asp272Gly)
c.*552A>G (n.*552A>G)
n.766A>G
c.655A>G
c.782A>G (p.Asp261Gly)
c.719A>G (p.Asp240Gly)
n.929A>G
c.611A>G (p.Asp204Gly)
n.673A>G
19g.17283417A>TCA404744959ANKLE1c.653A>T (p.Asp218Val)
n.870A>T
c.620A>T (p.Asp207Val)
c.815A>T (p.Asp272Val)
c.*552A>T (n.*552A>T)
n.766A>T
c.655A>T
c.782A>T (p.Asp261Val)
c.719A>T (p.Asp240Val)
n.929A>T
c.611A>T (p.Asp204Val)
n.673A>T
19g.17283418C>ACA404744961ANKLE1c.654C>A (p.Asp218Glu)
n.871C>A
c.621C>A (p.Asp207Glu)
c.816C>A (p.Asp272Glu)
c.*553C>A (n.*553C>A)
n.767C>A
c.656C>A
c.783C>A (p.Asp261Glu)
c.720C>A (p.Asp240Glu)
n.930C>A
c.612C>A (p.Asp204Glu)
n.674C>A
 gnomAD v4
19g.17283418C=CA2325780519ANKLE1c.654C= (p.Asp218=)
n.871C=
c.621C= (p.Asp207=)
c.816C= (p.Asp272=)
c.*553C= (n.*553C=)
n.767C=
c.656C=
c.783C= (p.Asp261=)
c.720C= (p.Asp240=)
n.930C=
c.612C= (p.Asp204=)
n.674C=
19g.17283418C>GCA404744962ANKLE1c.654C>G (p.Asp218Glu)
n.871C>G
c.621C>G (p.Asp207Glu)
c.816C>G (p.Asp272Glu)
c.*553C>G (n.*553C>G)
n.767C>G
c.656C>G
c.783C>G (p.Asp261Glu)
c.720C>G (p.Asp240Glu)
n.930C>G
c.612C>G (p.Asp204Glu)
n.674C>G
19g.17283418C>TCA9291155ANKLE1c.654C>T (p.Asp218=)
n.871C>T
c.621C>T (p.Asp207=)
c.816C>T (p.Asp272=)
c.*553C>T (n.*553C>T)
n.767C>T
c.656C>T
c.783C>T (p.Asp261=)
c.720C>T (p.Asp240=)
n.930C>T
c.612C>T (p.Asp204=)
n.674C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283419G>ACA9291156ANKLE1c.655G>A (p.Ala219Thr)
n.872G>A
c.622G>A (p.Ala208Thr)
c.817G>A (p.Ala273Thr)
c.*554G>A (n.*554G>A)
n.768G>A
c.657G>A
c.784G>A (p.Ala262Thr)
c.721G>A (p.Ala241Thr)
n.931G>A
c.613G>A (p.Ala205Thr)
n.675G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
19g.17283419G>CCA404744963ANKLE1c.655G>C (p.Ala219Pro)
n.872G>C
c.622G>C (p.Ala208Pro)
c.817G>C (p.Ala273Pro)
c.*554G>C (n.*554G>C)
n.768G>C
c.657G>C
c.784G>C (p.Ala262Pro)
c.721G>C (p.Ala241Pro)
n.931G>C
c.613G>C (p.Ala205Pro)
n.675G>C
 dbSNP gnomAD v4
19g.17283419G=CA2325780520ANKLE1c.655G= (p.Ala219=)
n.872G=
c.622G= (p.Ala208=)
c.817G= (p.Ala273=)
c.*554G= (n.*554G=)
n.768G=
c.657G=
c.784G= (p.Ala262=)
c.721G= (p.Ala241=)
n.931G=
c.613G= (p.Ala205=)
n.675G=
19g.17283419G>TCA404744964ANKLE1c.655G>T (p.Ala219Ser)
n.872G>T
c.622G>T (p.Ala208Ser)
c.817G>T (p.Ala273Ser)
c.*554G>T (n.*554G>T)
n.768G>T
c.657G>T
c.784G>T (p.Ala262Ser)
c.721G>T (p.Ala241Ser)
n.931G>T
c.613G>T (p.Ala205Ser)
n.675G>T
19g.17283420C>ACA404744965ANKLE1c.656C>A (p.Ala219Asp)
n.873C>A
c.623C>A (p.Ala208Asp)
c.818C>A (p.Ala273Asp)
c.*555C>A (n.*555C>A)
n.769C>A
c.658C>A
c.785C>A (p.Ala262Asp)
c.722C>A (p.Ala241Asp)
n.932C>A
c.614C>A (p.Ala205Asp)
n.676C>A
 gnomAD v4
19g.17283420C>GCA404744966ANKLE1c.656C>G (p.Ala219Gly)
n.873C>G
c.623C>G (p.Ala208Gly)
c.818C>G (p.Ala273Gly)
c.*555C>G (n.*555C>G)
n.769C>G
c.658C>G
c.785C>G (p.Ala262Gly)
c.722C>G (p.Ala241Gly)
n.932C>G
c.614C>G (p.Ala205Gly)
n.676C>G
19g.17283420C>TCA404744967ANKLE1c.656C>T (p.Ala219Val)
n.873C>T
c.623C>T (p.Ala208Val)
c.818C>T (p.Ala273Val)
c.*555C>T (n.*555C>T)
n.769C>T
c.658C>T
c.785C>T (p.Ala262Val)
c.722C>T (p.Ala241Val)
n.932C>T
c.614C>T (p.Ala205Val)
n.676C>T
 dbSNP
19g.17283421C>ACA506095615ANKLE1c.657C>A (p.Ala219=)
n.874C>A
c.624C>A (p.Ala208=)
c.819C>A (p.Ala273=)
c.*556C>A (n.*556C>A)
n.770C>A
c.659C>A
c.786C>A (p.Ala262=)
c.723C>A (p.Ala241=)
n.933C>A
c.615C>A (p.Ala205=)
n.677C>A
19g.17283421C=CA2325780521ANKLE1c.657C= (p.Ala219=)
n.874C=
c.624C= (p.Ala208=)
c.819C= (p.Ala273=)
c.*556C= (n.*556C=)
n.770C=
c.659C=
c.786C= (p.Ala262=)
c.723C= (p.Ala241=)
n.933C=
c.615C= (p.Ala205=)
n.677C=
19g.17283421C>GCA506095617ANKLE1c.657C>G (p.Ala219=)
n.874C>G
c.624C>G (p.Ala208=)
c.819C>G (p.Ala273=)
c.*556C>G (n.*556C>G)
n.770C>G
c.659C>G
c.786C>G (p.Ala262=)
c.723C>G (p.Ala241=)
n.933C>G
c.615C>G (p.Ala205=)
n.677C>G
19g.17283421C>TCA506095618ANKLE1c.657C>T (p.Ala219=)
n.874C>T
c.624C>T (p.Ala208=)
c.819C>T (p.Ala273=)
c.*556C>T (n.*556C>T)
n.770C>T
c.659C>T
c.786C>T (p.Ala262=)
c.723C>T (p.Ala241=)
n.933C>T
c.615C>T (p.Ala205=)
n.677C>T
 dbSNP gnomAD v2
19g.17283422T>ACA404744968ANKLE1c.658T>A (p.Ser220Thr)
n.875T>A
c.625T>A (p.Ser209Thr)
c.820T>A (p.Ser274Thr)
c.*557T>A (n.*557T>A)
n.771T>A
c.660T>A
c.787T>A (p.Ser263Thr)
c.724T>A (p.Ser242Thr)
n.934T>A
c.616T>A (p.Ser206Thr)
n.678T>A
19g.17283422T>CCA404744969ANKLE1c.658T>C (p.Ser220Pro)
n.875T>C
c.625T>C (p.Ser209Pro)
c.820T>C (p.Ser274Pro)
c.*557T>C (n.*557T>C)
n.771T>C
c.660T>C
c.787T>C (p.Ser263Pro)
c.724T>C (p.Ser242Pro)
n.934T>C
c.616T>C (p.Ser206Pro)
n.678T>C
19g.17283422T>GCA404744970ANKLE1c.658T>G (p.Ser220Ala)
n.875T>G
c.625T>G (p.Ser209Ala)
c.820T>G (p.Ser274Ala)
c.*557T>G (n.*557T>G)
n.771T>G
c.660T>G
c.787T>G (p.Ser263Ala)
c.724T>G (p.Ser242Ala)
n.934T>G
c.616T>G (p.Ser206Ala)
n.678T>G
19g.17283423C>ACA404744971ANKLE1c.659C>A (p.Ser220Tyr)
n.876C>A
c.626C>A (p.Ser209Tyr)
c.821C>A (p.Ser274Tyr)
c.*558C>A (n.*558C>A)
n.772C>A
c.661C>A
c.788C>A (p.Ser263Tyr)
c.725C>A (p.Ser242Tyr)
n.935C>A
c.617C>A (p.Ser206Tyr)
n.679C>A
19g.17283423C>GCA404744973ANKLE1c.659C>G (p.Ser220Cys)
n.876C>G
c.626C>G (p.Ser209Cys)
c.821C>G (p.Ser274Cys)
c.*558C>G (n.*558C>G)
n.772C>G
c.661C>G
c.788C>G (p.Ser263Cys)
c.725C>G (p.Ser242Cys)
n.935C>G
c.617C>G (p.Ser206Cys)
n.679C>G
19g.17283423C>TCA404744972ANKLE1c.659C>T (p.Ser220Phe)
n.876C>T
c.626C>T (p.Ser209Phe)
c.821C>T (p.Ser274Phe)
c.*558C>T (n.*558C>T)
n.772C>T
c.661C>T
c.788C>T (p.Ser263Phe)
c.725C>T (p.Ser242Phe)
n.935C>T
c.617C>T (p.Ser206Phe)
n.679C>T
19g.17283424T>ACA506095621ANKLE1c.660T>A (p.Ser220=)
n.877T>A
c.627T>A (p.Ser209=)
c.822T>A (p.Ser274=)
c.*559T>A (n.*559T>A)
n.773T>A
c.662T>A
c.789T>A (p.Ser263=)
c.726T>A (p.Ser242=)
n.936T>A
c.618T>A (p.Ser206=)
n.680T>A
19g.17283424T>CCA506095623ANKLE1c.660T>C (p.Ser220=)
n.877T>C
c.627T>C (p.Ser209=)
c.822T>C (p.Ser274=)
c.*559T>C (n.*559T>C)
n.773T>C
c.662T>C
c.789T>C (p.Ser263=)
c.726T>C (p.Ser242=)
n.936T>C
c.618T>C (p.Ser206=)
n.680T>C
19g.17283424T>GCA506095624ANKLE1c.660T>G (p.Ser220=)
n.877T>G
c.627T>G (p.Ser209=)
c.822T>G (p.Ser274=)
c.*559T>G (n.*559T>G)
n.773T>G
c.662T>G
c.789T>G (p.Ser263=)
c.726T>G (p.Ser242=)
n.936T>G
c.618T>G (p.Ser206=)
n.680T>G
19g.17283425T>ACA404744974ANKLE1c.661T>A (p.Phe221Ile)
n.878T>A
c.628T>A (p.Phe210Ile)
c.823T>A (p.Phe275Ile)
c.*560T>A (n.*560T>A)
n.774T>A
c.663T>A
c.790T>A (p.Phe264Ile)
c.727T>A (p.Phe243Ile)
n.937T>A
c.619T>A (p.Phe207Ile)
n.681T>A
19g.17283425T>CCA404744975ANKLE1c.661T>C (p.Phe221Leu)
n.878T>C
c.628T>C (p.Phe210Leu)
c.823T>C (p.Phe275Leu)
c.*560T>C (n.*560T>C)
n.774T>C
c.663T>C
c.790T>C (p.Phe264Leu)
c.727T>C (p.Phe243Leu)
n.937T>C
c.619T>C (p.Phe207Leu)
n.681T>C
19g.17283425T>GCA404744976ANKLE1c.661T>G (p.Phe221Val)
n.878T>G
c.628T>G (p.Phe210Val)
c.823T>G (p.Phe275Val)
c.*560T>G (n.*560T>G)
n.774T>G
c.663T>G
c.790T>G (p.Phe264Val)
c.727T>G (p.Phe243Val)
n.937T>G
c.619T>G (p.Phe207Val)
n.681T>G
19g.17283426T>ACA404744977ANKLE1c.662T>A (p.Phe221Tyr)
n.879T>A
c.629T>A (p.Phe210Tyr)
c.824T>A (p.Phe275Tyr)
c.*561T>A (n.*561T>A)
n.775T>A
c.664T>A
c.791T>A (p.Phe264Tyr)
c.728T>A (p.Phe243Tyr)
n.938T>A
c.620T>A (p.Phe207Tyr)
n.682T>A
 dbSNP
19g.17283426T>CCA404744978ANKLE1c.662T>C (p.Phe221Ser)
n.879T>C
c.629T>C (p.Phe210Ser)
c.824T>C (p.Phe275Ser)
c.*561T>C (n.*561T>C)
n.775T>C
c.664T>C
c.791T>C (p.Phe264Ser)
c.728T>C (p.Phe243Ser)
n.938T>C
c.620T>C (p.Phe207Ser)
n.682T>C
 gnomAD v4
19g.17283426T>GCA404744979ANKLE1c.662T>G (p.Phe221Cys)
n.879T>G
c.629T>G (p.Phe210Cys)
c.824T>G (p.Phe275Cys)
c.*561T>G (n.*561T>G)
n.775T>G
c.664T>G
c.791T>G (p.Phe264Cys)
c.728T>G (p.Phe243Cys)
n.938T>G
c.620T>G (p.Phe207Cys)
n.682T>G
19g.17283426T=CA2325780522ANKLE1c.662T= (p.Phe221=)
n.879T=
c.629T= (p.Phe210=)
c.824T= (p.Phe275=)
c.*561T= (n.*561T=)
n.775T=
c.664T=
c.791T= (p.Phe264=)
c.728T= (p.Phe243=)
n.938T=
c.620T= (p.Phe207=)
n.682T=

Number of alleles fetched