Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.17283321C>A | CA404744762 | ANKLE1 | c.557C>A (p.Ala186Asp) n.774C>A c.524C>A (p.Ala175Asp) c.719C>A (p.Ala240Asp) c.*456C>A (n.*456C>A) n.670C>A c.559C>A c.686C>A (p.Ala229Asp) c.623C>A (p.Ala208Asp) n.833C>A c.515C>A (p.Ala172Asp) n.577C>A | |
19 | g.17283321C= | CA2325780470 | ANKLE1 | c.557C= (p.Ala186=) n.774C= c.524C= (p.Ala175=) c.719C= (p.Ala240=) c.*456C= (n.*456C=) n.670C= c.559C= c.686C= (p.Ala229=) c.623C= (p.Ala208=) n.833C= c.515C= (p.Ala172=) n.577C= | |
19 | g.17283321C>G | CA9291133 | ANKLE1 | c.557C>G (p.Ala186Gly) n.774C>G c.524C>G (p.Ala175Gly) c.719C>G (p.Ala240Gly) c.*456C>G (n.*456C>G) n.670C>G c.559C>G c.686C>G (p.Ala229Gly) c.623C>G (p.Ala208Gly) n.833C>G c.515C>G (p.Ala172Gly) n.577C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283321C>T | CA404744761 | ANKLE1 | c.557C>T (p.Ala186Val) n.774C>T c.524C>T (p.Ala175Val) c.719C>T (p.Ala240Val) c.*456C>T (n.*456C>T) n.670C>T c.559C>T c.686C>T (p.Ala229Val) c.623C>T (p.Ala208Val) n.833C>T c.515C>T (p.Ala172Val) n.577C>T | |
19 | g.17283322T>A | CA506095586 | ANKLE1 | c.558T>A (p.Ala186=) n.775T>A c.525T>A (p.Ala175=) c.720T>A (p.Ala240=) c.*457T>A (n.*457T>A) n.671T>A c.560T>A c.687T>A (p.Ala229=) c.624T>A (p.Ala208=) n.834T>A c.516T>A (p.Ala172=) n.578T>A | |
19 | g.17283322T>C | CA506095587 | ANKLE1 | c.558T>C (p.Ala186=) n.775T>C c.525T>C (p.Ala175=) c.720T>C (p.Ala240=) c.*457T>C (n.*457T>C) n.671T>C c.560T>C c.687T>C (p.Ala229=) c.624T>C (p.Ala208=) n.834T>C c.516T>C (p.Ala172=) n.578T>C | |
19 | g.17283322T>G | CA506095588 | ANKLE1 | c.558T>G (p.Ala186=) n.775T>G c.525T>G (p.Ala175=) c.720T>G (p.Ala240=) c.*457T>G (n.*457T>G) n.671T>G c.560T>G c.687T>G (p.Ala229=) c.624T>G (p.Ala208=) n.834T>G c.516T>G (p.Ala172=) n.578T>G | dbSNP gnomAD v2 |
19 | g.17283322T= | CA2325780471 | ANKLE1 | c.558T= (p.Ala186=) n.775T= c.525T= (p.Ala175=) c.720T= (p.Ala240=) c.*457T= (n.*457T=) n.671T= c.560T= c.687T= (p.Ala229=) c.624T= (p.Ala208=) n.834T= c.516T= (p.Ala172=) n.578T= | |
19 | g.17283323G>A | CA404744763 | ANKLE1 | c.559G>A (p.Asp187Asn) n.776G>A c.526G>A (p.Asp176Asn) c.721G>A (p.Asp241Asn) c.*458G>A (n.*458G>A) n.672G>A c.561G>A c.688G>A (p.Asp230Asn) c.625G>A (p.Asp209Asn) n.835G>A c.517G>A (p.Asp173Asn) n.579G>A | |
19 | g.17283323G>C | CA404744764 | ANKLE1 | c.559G>C (p.Asp187His) n.776G>C c.526G>C (p.Asp176His) c.721G>C (p.Asp241His) c.*458G>C (n.*458G>C) n.672G>C c.561G>C c.688G>C (p.Asp230His) c.625G>C (p.Asp209His) n.835G>C c.517G>C (p.Asp173His) n.579G>C | |
19 | g.17283323G>T | CA404744765 | ANKLE1 | c.559G>T (p.Asp187Tyr) n.776G>T c.526G>T (p.Asp176Tyr) c.721G>T (p.Asp241Tyr) c.*458G>T (n.*458G>T) n.672G>T c.561G>T c.688G>T (p.Asp230Tyr) c.625G>T (p.Asp209Tyr) n.835G>T c.517G>T (p.Asp173Tyr) n.579G>T | |
19 | g.17283324A= | CA2325780472 | ANKLE1 | c.560A= (p.Asp187=) n.777A= c.527A= (p.Asp176=) c.722A= (p.Asp241=) c.*459A= (n.*459A=) n.673A= c.562A= c.689A= (p.Asp230=) c.626A= (p.Asp209=) n.836A= c.518A= (p.Asp173=) n.580A= | |
19 | g.17283324A>C | CA404744766 | ANKLE1 | c.560A>C (p.Asp187Ala) n.777A>C c.527A>C (p.Asp176Ala) c.722A>C (p.Asp241Ala) c.*459A>C (n.*459A>C) n.673A>C c.562A>C c.689A>C (p.Asp230Ala) c.626A>C (p.Asp209Ala) n.836A>C c.518A>C (p.Asp173Ala) n.580A>C | dbSNP |
19 | g.17283324A>G | CA404744767 | ANKLE1 | c.560A>G (p.Asp187Gly) n.777A>G c.527A>G (p.Asp176Gly) c.722A>G (p.Asp241Gly) c.*459A>G (n.*459A>G) n.673A>G c.562A>G c.689A>G (p.Asp230Gly) c.626A>G (p.Asp209Gly) n.836A>G c.518A>G (p.Asp173Gly) n.580A>G | |
19 | g.17283324A>T | CA404744768 | ANKLE1 | c.560A>T (p.Asp187Val) n.777A>T c.527A>T (p.Asp176Val) c.722A>T (p.Asp241Val) c.*459A>T (n.*459A>T) n.673A>T c.562A>T c.689A>T (p.Asp230Val) c.626A>T (p.Asp209Val) n.836A>T c.518A>T (p.Asp173Val) n.580A>T | |
19 | g.17283324_17283325insGCCT | CA2839584952 | ANKLE1 | c.560_561insGCCT (p.Asp187GlufsTer13) n.777_778insGCCT c.527_528insGCCT (p.Asp176GlufsTer13) c.722_723insGCCT (p.Asp241GlufsTer13) c.*459_*460insGCCT (n.*459_*460insGCCT) n.673_674insGCCT c.562_563insGCCT c.689_690insGCCT (p.Asp230GlufsTer13) c.626_627insGCCT (p.Asp209GlufsTer13) n.836_837insGCCT c.518_519insGCCT (p.Asp173GlufsTer13) n.580_581insGCCT | |
19 | g.17283325C>A | CA404744770 | ANKLE1 | c.561C>A (p.Asp187Glu) n.778C>A c.528C>A (p.Asp176Glu) c.723C>A (p.Asp241Glu) c.*460C>A (n.*460C>A) n.674C>A c.563C>A c.690C>A (p.Asp230Glu) c.627C>A (p.Asp209Glu) n.837C>A c.519C>A (p.Asp173Glu) n.581C>A | |
19 | g.17283325C= | CA2325780473 | ANKLE1 | c.561C= (p.Asp187=) n.778C= c.528C= (p.Asp176=) c.723C= (p.Asp241=) c.*460C= (n.*460C=) n.674C= c.563C= c.690C= (p.Asp230=) c.627C= (p.Asp209=) n.837C= c.519C= (p.Asp173=) n.581C= | |
19 | g.17283325C>G | CA404744769 | ANKLE1 | c.561C>G (p.Asp187Glu) n.778C>G c.528C>G (p.Asp176Glu) c.723C>G (p.Asp241Glu) c.*460C>G (n.*460C>G) n.674C>G c.563C>G c.690C>G (p.Asp230Glu) c.627C>G (p.Asp209Glu) n.837C>G c.519C>G (p.Asp173Glu) n.581C>G | |
19 | g.17283325C>T | CA9291134 | ANKLE1 | c.561C>T (p.Asp187=) n.778C>T c.528C>T (p.Asp176=) c.723C>T (p.Asp241=) c.*460C>T (n.*460C>T) n.674C>T c.563C>T c.690C>T (p.Asp230=) c.627C>T (p.Asp209=) n.837C>T c.519C>T (p.Asp173=) n.581C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283327del | CA2583322993 | ANKLE1 | c.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 |
19 | g.17283326C>A | CA404744771 | ANKLE1 | c.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 |
19 | g.17283326C= | CA2325780474 | ANKLE1 | c.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= | |
19 | g.17283326C>G | CA404744772 | ANKLE1 | c.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 | |
19 | g.17283326C>T | CA9291135 | ANKLE1 | c.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 |
19 | g.17283327C>A | CA404744773 | ANKLE1 | c.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 | |
19 | g.17283327C= | CA2325780475 | ANKLE1 | c.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= | |
19 | g.17283327C>G | CA404744774 | ANKLE1 | c.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 | |
19 | g.17283327C>T | CA306086227 | ANKLE1 | c.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 |
19 | g.17283328A>C | CA506095593 | ANKLE1 | c.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 | |
19 | g.17283328A>G | CA506095595 | ANKLE1 | c.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 | |
19 | g.17283328A>T | CA506095594 | ANKLE1 | c.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 | |
19 | g.17283329G>A | CA9291136 | ANKLE1 | c.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 | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283329G>C | CA404744775 | ANKLE1 | c.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 | |
19 | g.17283329G= | CA2325780476 | ANKLE1 | c.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= | |
19 | g.17283329G>T | CA404744776 | ANKLE1 | c.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 | |
19 | g.17283330dup | CA2842410908 | ANKLE1 | c.566dup (p.Pro190ThrfsTer9) n.783dup c.533dup (p.Pro179ThrfsTer9) c.728dup (p.Pro244ThrfsTer9) c.*465dup (n.*465dup) n.679dup c.568dup c.695dup (p.Pro233ThrfsTer9) c.632dup (p.Pro212ThrfsTer9) n.842dup c.524dup (p.Pro176ThrfsTer9) n.586dup | |
19 | g.17283330G>A | CA9291137 | ANKLE1 | c.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 |
19 | g.17283330G>C | CA404744777 | ANKLE1 | c.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 | |
19 | g.17283330G= | CA2325780477 | ANKLE1 | c.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= | |
19 | g.17283330G>T | CA404744778 | ANKLE1 | c.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 | |
19 | g.17283331A= | CA2325780478 | ANKLE1 | c.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= | |
19 | g.17283331A>C | CA506095596 | ANKLE1 | c.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 |
19 | g.17283331A>G | CA506095597 | ANKLE1 | c.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 | |
19 | g.17283331A>T | CA506095598 | ANKLE1 | c.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 |
19 | g.17283332C>A | CA404744779 | ANKLE1 | c.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 | |
19 | g.17283332C= | CA2325780479 | ANKLE1 | c.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= | |
19 | g.17283332C>G | CA404744781 | ANKLE1 | c.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 |
19 | g.17283332C>T | CA404744780 | ANKLE1 | c.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 |
19 | g.17283337dup | CA9291138 | ANKLE1 | c.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 |
19 | g.17283336_17283337dup | CA2813794836 | ANKLE1 | c.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 | |
19 | g.17283337del | CA2583322994 | ANKLE1 | c.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 |
19 | g.17283333C>A | CA404744783 | ANKLE1 | c.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 |
19 | g.17283333C= | CA2325780480 | ANKLE1 | c.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= | |
19 | g.17283333C>G | CA404744782 | ANKLE1 | c.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 | |
19 | g.17283333C>T | CA404744784 | ANKLE1 | c.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 |
19 | g.17283334C>A | CA506095600 | ANKLE1 | c.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 | |
19 | g.17283334C= | CA2325780481 | ANKLE1 | c.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= | |
19 | g.17283334C>G | CA506095601 | ANKLE1 | c.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 | |
19 | g.17283334C>T | CA9291139 | ANKLE1 | c.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 |
19 | g.17283335C>A | CA404744785 | ANKLE1 | c.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 | |
19 | g.17283335C= | CA2325780482 | ANKLE1 | c.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= | |
19 | g.17283335C>G | CA404744786 | ANKLE1 | c.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 | |
19 | g.17283335C>T | CA404744787 | ANKLE1 | c.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 |
19 | g.17283336C>A | CA404744788 | ANKLE1 | c.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 | |
19 | g.17283336C>G | CA404744789 | ANKLE1 | c.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 | |
19 | g.17283336C>T | CA404744790 | ANKLE1 | c.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 | |
19 | g.17283337C>A | CA506095606 | ANKLE1 | c.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 | |
19 | g.17283337C>G | CA506095604 | ANKLE1 | c.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 | |
19 | g.17283337C>T | CA506095603 | ANKLE1 | c.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 | |
19 | g.17283338A>C | CA404744791 | ANKLE1 | c.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 | |
19 | g.17283338A>G | CA404744792 | ANKLE1 | c.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 | |
19 | g.17283338A>T | CA404744793 | ANKLE1 | c.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 | |
19 | g.17283339G>A | CA404744796 | ANKLE1 | c.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 | |
19 | g.17283339G>C | CA404744795 | ANKLE1 | c.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 | |
19 | g.17283339G>T | CA404744794 | ANKLE1 | c.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 | |
19 | g.17283340C>A | CA404744797 | ANKLE1 | c.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 |
19 | g.17283340C= | CA2325780483 | ANKLE1 | c.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= | |
19 | g.17283340C>G | CA9291140 | ANKLE1 | c.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 |
19 | g.17283340C>T | CA9291141 | ANKLE1 | c.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 |
19 | g.17283341C>A | CA404744798 | ANKLE1 | c.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 | |
19 | g.17283341C= | CA2325780484 | ANKLE1 | c.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= | |
19 | g.17283341C>G | CA404744799 | ANKLE1 | c.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 | |
19 | g.17283341C>T | CA404744800 | ANKLE1 | c.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 |
19 | g.17283342T>A | CA306086255 | ANKLE1 | c.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 |
19 | g.17283342T>C | CA404744801 | ANKLE1 | c.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 | |
19 | g.17283342T>G | CA404744802 | ANKLE1 | c.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 | |
19 | g.17283342T= | CA2325780485 | ANKLE1 | c.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= | |
19 | g.17283343C>A | CA506095610 | ANKLE1 | c.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 | |
19 | g.17283343C>G | CA506095611 | ANKLE1 | c.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 | |
19 | g.17283343C>T | CA506095612 | ANKLE1 | c.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 | |
19 | g.17283344C>A | CA404744803 | ANKLE1 | c.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 | |
19 | g.17283344C= | CA2325780486 | ANKLE1 | c.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= | |
19 | g.17283344C>G | CA404744804 | ANKLE1 | c.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 | |
19 | g.17283344C>T | CA404744805 | ANKLE1 | c.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 |
19 | g.17283345C>A | CA404744807 | ANKLE1 | c.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 | |
19 | g.17283345C>G | CA404744808 | ANKLE1 | c.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 | |
19 | g.17283345C>T | CA404744806 | ANKLE1 | c.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 | |
19 | g.17283346T>A | CA506095613 | ANKLE1 | c.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 | |
19 | g.17283346T>C | CA506095614 | ANKLE1 | c.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 | |
19 | g.17283346T>G | CA506095616 | ANKLE1 | c.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 | |
19 | g.17283347G>A | CA404744809 | ANKLE1 | c.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 | |
19 | g.17283347G>C | CA404744810 | ANKLE1 | c.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 | |
19 | g.17283347G>T | CA404744811 | ANKLE1 | c.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 | |
19 | g.17283348T>A | CA9291142 | ANKLE1 | c.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 |
19 | g.17283348T>C | CA404744812 | ANKLE1 | c.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 | |
19 | g.17283348T>G | CA404744813 | ANKLE1 | c.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 | |
19 | g.17283348T= | CA2325780487 | ANKLE1 | c.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= | |
19 | g.17283349T>A | CA506095619 | ANKLE1 | c.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 | |
19 | g.17283349T>C | CA506095620 | ANKLE1 | c.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 |
19 | g.17283349T>G | CA506095622 | ANKLE1 | c.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 | |
19 | g.17283349T= | CA2325780488 | ANKLE1 | c.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= | |
19 | g.17283349_17283350delinsTC | CA2325780489 | ANKLE1 | c.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 | |
19 | g.17283350C>A | CA404744814 | ANKLE1 | c.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 |
19 | g.17283350C= | CA2325780491 | ANKLE1 | c.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= | |
19 | g.17283350C>G | CA404744815 | ANKLE1 | c.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 | |
19 | g.17283350C>T | CA404744816 | ANKLE1 | c.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 |
19 | g.17283353del | CA2325780490 | ANKLE1 | c.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 |
19 | g.17283351C>A | CA404744817 | ANKLE1 | c.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 | |
19 | g.17283351C= | CA2325780492 | ANKLE1 | c.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= | |
19 | g.17283351C>G | CA404744818 | ANKLE1 | c.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 |
19 | g.17283351C>T | CA306086260 | ANKLE1 | c.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 |
19 | g.17283352C>A | CA506095625 | ANKLE1 | c.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 | |
19 | g.17283352C= | CA2325780493 | ANKLE1 | c.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= | |
19 | g.17283352C>G | CA506095626 | ANKLE1 | c.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 |
19 | g.17283352C>T | CA506095627 | ANKLE1 | c.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 |
19 | g.17283353C>A | CA404744820 | ANKLE1 | c.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 | |
19 | g.17283353C>G | CA404744821 | ANKLE1 | c.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 | |
19 | g.17283353C>T | CA404744819 | ANKLE1 | c.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 |
19 | g.17283354T>A | CA404744822 | ANKLE1 | c.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 | |
19 | g.17283354T>C | CA404744823 | ANKLE1 | c.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 | |
19 | g.17283354T>G | CA404744824 | ANKLE1 | c.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 | |
19 | g.17283355T>A | CA506095628 | ANKLE1 | c.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 | |
19 | g.17283355T>C | CA506095629 | ANKLE1 | c.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 | |
19 | g.17283355T>G | CA506095630 | ANKLE1 | c.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 | |
19 | g.17283356G>A | CA404744825 | ANKLE1 | c.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 |
19 | g.17283356G>C | CA404744826 | ANKLE1 | c.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 | |
19 | g.17283356G>T | CA404744827 | ANKLE1 | c.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 | |
19 | g.17283357A>C | CA404744828 | ANKLE1 | c.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 | |
19 | g.17283357A>G | CA404744830 | ANKLE1 | c.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 | |
19 | g.17283357A>T | CA404744829 | ANKLE1 | c.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 | |
19 | g.17283358A>C | CA404744831 | ANKLE1 | c.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 | |
19 | g.17283358A>G | CA506095633 | ANKLE1 | c.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 | |
19 | g.17283358A>T | CA404744832 | ANKLE1 | c.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 | |
19 | g.17283359A>C | CA404744833 | ANKLE1 | c.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 |
19 | g.17283359A>G | CA404744834 | ANKLE1 | c.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 | |
19 | g.17283359A>T | CA404744835 | ANKLE1 | c.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 | |
19 | g.17283360C>A | CA404744837 | ANKLE1 | c.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 |
19 | g.17283360C= | CA2325780494 | ANKLE1 | c.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= | |
19 | g.17283360C>G | CA404744838 | ANKLE1 | c.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 |
19 | g.17283360C>T | CA404744836 | ANKLE1 | c.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 |
19 | g.17283360_17283362delinsCTG | CA2325780495 | ANKLE1 | c.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 | |
19 | g.17283361T>A | CA506095637 | ANKLE1 | c.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 | |
19 | g.17283361T>C | CA506095638 | ANKLE1 | c.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 |
19 | g.17283361T>G | CA506095639 | ANKLE1 | c.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 | |
19 | g.17283361T= | CA2325780496 | ANKLE1 | c.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= | |
19 | g.17283363_17283364del | CA632133552 | ANKLE1 | c.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 |
19 | g.17283362G>A | CA404744839 | ANKLE1 | c.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 |
19 | g.17283362G>C | CA404744841 | ANKLE1 | c.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 | |
19 | g.17283362G>T | CA404744840 | ANKLE1 | c.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 | |
19 | g.17283363T>A | CA404744842 | ANKLE1 | c.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 | |
19 | g.17283363T>C | CA404744843 | ANKLE1 | c.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 | |
19 | g.17283363T>G | CA9291143 | ANKLE1 | c.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 |
19 | g.17283363T= | CA2325780497 | ANKLE1 | c.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= | |
19 | g.17283364G>A | CA506095642 | ANKLE1 | c.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 | |
19 | g.17283364G>C | CA506095643 | ANKLE1 | c.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 | |
19 | g.17283364G>T | CA506095644 | ANKLE1 | c.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 | |
19 | g.17283365G>A | CA404744844 | ANKLE1 | c.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 | |
19 | g.17283365G>C | CA404744845 | ANKLE1 | c.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 | |
19 | g.17283365G>T | CA404744846 | ANKLE1 | c.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 | |
19 | g.17283366A>C | CA404744847 | ANKLE1 | c.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 | |
19 | g.17283366A>G | CA404744848 | ANKLE1 | c.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 | |
19 | g.17283366A>T | CA404744849 | ANKLE1 | c.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 | |
19 | g.17283367C>A | CA9291144 | ANKLE1 | c.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 |
19 | g.17283367C= | CA2325780498 | ANKLE1 | c.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= | |
19 | g.17283367C>G | CA404744850 | ANKLE1 | c.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 |
19 | g.17283367C>T | CA506095649 | ANKLE1 | c.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 | |
19 | g.17283368A>C | CA404744851 | ANKLE1 | c.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 | |
19 | g.17283368A>G | CA404744852 | ANKLE1 | c.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 |
19 | g.17283368A>T | CA404744853 | ANKLE1 | c.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 | |
19 | g.17283369A>C | CA404744856 | ANKLE1 | c.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 | |
19 | g.17283369A>G | CA404744854 | ANKLE1 | c.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 | |
19 | g.17283369A>T | CA404744855 | ANKLE1 | c.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 | |
19 | g.17283370A>C | CA404744857 | ANKLE1 | c.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 | |
19 | g.17283370A>G | CA506095655 | ANKLE1 | c.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 | |
19 | g.17283370A>T | CA404744858 | ANKLE1 | c.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 |
19 | g.17283371C>A | CA404744859 | ANKLE1 | c.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 | |
19 | g.17283371C= | CA2325780499 | ANKLE1 | c.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= | |
19 | g.17283371C>G | CA404744860 | ANKLE1 | c.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 | |
19 | g.17283371C>T | CA9291145 | ANKLE1 | c.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 |
19 | g.17283372A= | CA2325780500 | ANKLE1 | c.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= | |
19 | g.17283372A>C | CA404744861 | ANKLE1 | c.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 |
19 | g.17283372A>G | CA404744862 | ANKLE1 | c.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 | |
19 | g.17283372A>T | CA404744863 | ANKLE1 | c.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 | |
19 | g.17283373T>A | CA404744864 | ANKLE1 | c.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 | |
19 | g.17283373T>C | CA506095659 | ANKLE1 | c.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 | |
19 | g.17283373T>G | CA404744865 | ANKLE1 | c.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 | |
19 | g.17283374G>A | CA404744867 | ANKLE1 | c.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 | |
19 | g.17283374G>C | CA404744868 | ANKLE1 | c.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 | |
19 | g.17283374G>T | CA404744866 | ANKLE1 | c.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 |
19 | g.17283376del | CA2842410909 | ANKLE1 | c.612del (p.Ser205AlafsTer?) n.829del c.579del (p.Ser194AlafsTer?) c.774del (p.Ser259AlafsTer?) c.*511del (n.*511del) n.725del c.614del c.741del (p.Ser248AlafsTer?) c.678del (p.Ser227AlafsTer?) n.888del c.570del (p.Ser191AlafsTer?) n.632del | |
19 | g.17283375G>A | CA9291146 | ANKLE1 | c.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 |
19 | g.17283375G>C | CA404744869 | ANKLE1 | c.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 | |
19 | g.17283375G= | CA2325780501 | ANKLE1 | c.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= | |
19 | g.17283375G>T | CA404744870 | ANKLE1 | c.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 | |
19 | g.17283376G>A | CA506095668 | ANKLE1 | c.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 | |
19 | g.17283376G>C | CA506095670 | ANKLE1 | c.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 | |
19 | g.17283376G>T | CA506095669 | ANKLE1 | c.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 | |
19 | g.17283377A>C | CA404744871 | ANKLE1 | c.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 | |
19 | g.17283377A>G | CA404744872 | ANKLE1 | c.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 | |
19 | g.17283377A>T | CA404744873 | ANKLE1 | c.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 | |
19 | g.17283378G>A | CA404744874 | ANKLE1 | c.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 | |
19 | g.17283378G>C | CA404744875 | ANKLE1 | c.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 | |
19 | g.17283378G>T | CA404744876 | ANKLE1 | c.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 | |
19 | g.17283379C>A | CA404744877 | ANKLE1 | c.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 | |
19 | g.17283379C= | CA2325780502 | ANKLE1 | c.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= | |
19 | g.17283379C>G | CA404744878 | ANKLE1 | c.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 | |
19 | g.17283379C>T | CA9291147 | ANKLE1 | c.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 |
19 | g.17283380T>A | CA404744880 | ANKLE1 | c.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 | |
19 | g.17283380T>C | CA404744881 | ANKLE1 | c.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 | |
19 | g.17283380T>G | CA404744879 | ANKLE1 | c.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 | |
19 | g.17283381C>A | CA404744882 | ANKLE1 | c.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 | |
19 | g.17283381C= | CA2325780503 | ANKLE1 | c.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= | |
19 | g.17283381C>G | CA404744883 | ANKLE1 | c.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 | |
19 | g.17283381C>T | CA9291148 | ANKLE1 | c.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 |
19 | g.17283382G>A | CA506095564 | ANKLE1 | c.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 |
19 | g.17283382G>C | CA506095565 | ANKLE1 | c.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 | |
19 | g.17283382G= | CA2325780504 | ANKLE1 | c.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= | |
19 | g.17283382G>T | CA506095566 | ANKLE1 | c.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 | |
19 | g.17283383G>A | CA404744884 | ANKLE1 | c.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 | |
19 | g.17283383G>C | CA404744885 | ANKLE1 | c.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 | |
19 | g.17283383G>T | CA404744886 | ANKLE1 | c.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 | |
19 | g.17283384C>A | CA404744887 | ANKLE1 | c.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 | |
19 | g.17283384C= | CA2325780505 | ANKLE1 | c.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= | |
19 | g.17283384C>G | CA404744888 | ANKLE1 | c.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 | |
19 | g.17283384C>T | CA9291149 | ANKLE1 | c.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 |
19 | g.17283385G>A | CA9291150 | ANKLE1 | c.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 |
19 | g.17283385G>C | CA506095569 | ANKLE1 | c.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 | |
19 | g.17283385G= | CA2325780506 | ANKLE1 | c.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= | |
19 | g.17283385G>T | CA506095570 | ANKLE1 | c.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 | |
19 | g.17283386T>A | CA404744889 | ANKLE1 | c.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 | |
19 | g.17283386T>C | CA404744890 | ANKLE1 | c.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 | |
19 | g.17283386T>G | CA404744891 | ANKLE1 | c.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 | |
19 | g.17283387C>A | CA404744894 | ANKLE1 | c.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 | |
19 | g.17283387C>G | CA404744893 | ANKLE1 | c.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 | |
19 | g.17283387C>T | CA404744892 | ANKLE1 | c.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 | |
19 | g.17283388C>A | CA506095575 | ANKLE1 | c.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 | |
19 | g.17283388C= | CA2325780507 | ANKLE1 | c.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= | |
19 | g.17283388C>G | CA506095576 | ANKLE1 | c.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 |
19 | g.17283388C>T | CA506095577 | ANKLE1 | c.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 | |
19 | g.17283389C>A | CA404744895 | ANKLE1 | c.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 | |
19 | g.17283389C>G | CA404744897 | ANKLE1 | c.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 | |
19 | g.17283389C>T | CA404744896 | ANKLE1 | c.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 | |
19 | g.17283390C>A | CA404744898 | ANKLE1 | c.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 | |
19 | g.17283390C= | CA2325780508 | ANKLE1 | c.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= | |
19 | g.17283390C>G | CA9291151 | ANKLE1 | c.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 |
19 | g.17283390C>T | CA9291152 | ANKLE1 | c.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 |
19 | g.17283391T>A | CA506095579 | ANKLE1 | c.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 | |
19 | g.17283391T>C | CA506095580 | ANKLE1 | c.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 | |
19 | g.17283391T>G | CA506095581 | ANKLE1 | c.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 | |
19 | g.17283392C>A | CA404744899 | ANKLE1 | c.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 | |
19 | g.17283392C>G | CA404744900 | ANKLE1 | c.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 |
19 | g.17283392C>T | CA404744901 | ANKLE1 | c.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 |
19 | g.17283393C>A | CA404744902 | ANKLE1 | c.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 | |
19 | g.17283393C>G | CA404744903 | ANKLE1 | c.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 | |
19 | g.17283393C>T | CA404744904 | ANKLE1 | c.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 |
19 | g.17283393_17283394delinsCA | CA2325780509 | ANKLE1 | c.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 | |
19 | g.17283394del | CA632133553 | ANKLE1 | c.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 |
19 | g.17283394A>C | CA506095583 | ANKLE1 | c.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 | |
19 | g.17283394A>G | CA506095584 | ANKLE1 | c.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 |
19 | g.17283394A>T | CA506095585 | ANKLE1 | c.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 | |
19 | g.17283394dup | CA2583322995 | ANKLE1 | c.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 |
19 | g.17283395G>A | CA306086301 | ANKLE1 | c.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 |
19 | g.17283395G>C | CA404744905 | ANKLE1 | c.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 | |
19 | g.17283395G= | CA2325780510 | ANKLE1 | c.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= | |
19 | g.17283395G>T | CA404744906 | ANKLE1 | c.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 | |
19 | g.17283396G>A | CA404744909 | ANKLE1 | c.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 |
19 | g.17283396G>C | CA404744907 | ANKLE1 | c.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 | |
19 | g.17283396G= | CA2325780511 | ANKLE1 | c.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= | |
19 | g.17283396G>T | CA404744908 | ANKLE1 | c.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 | |
19 | g.17283397G>A | CA506095589 | ANKLE1 | c.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 | |
19 | g.17283397G>C | CA506095590 | ANKLE1 | c.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 | |
19 | g.17283397G>T | CA506095591 | ANKLE1 | c.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 | |
19 | g.17283398C>A | CA404744910 | ANKLE1 | c.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 | |
19 | g.17283398C= | CA2325780512 | ANKLE1 | c.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= | |
19 | g.17283398C>G | CA404744911 | ANKLE1 | c.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 | |
19 | g.17283398C>T | CA404744912 | ANKLE1 | c.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 |
19 | g.17283399A= | CA2325780513 | ANKLE1 | c.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= | |
19 | g.17283399A>C | CA404744913 | ANKLE1 | c.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 |
19 | g.17283399A>G | CA404744914 | ANKLE1 | c.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 | |
19 | g.17283399A>T | CA404744915 | ANKLE1 | c.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 | |
19 | g.17283400C>A | CA404744916 | ANKLE1 | c.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 | |
19 | g.17283400C= | CA2325780514 | ANKLE1 | c.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= | |
19 | g.17283400C>G | CA404744917 | ANKLE1 | c.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 | |
19 | g.17283400C>T | CA506095592 | ANKLE1 | c.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 |
19 | g.17283401T>A | CA404744918 | ANKLE1 | c.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 | |
19 | g.17283401T>C | CA404744919 | ANKLE1 | c.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 |
19 | g.17283401T>G | CA404744920 | ANKLE1 | c.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 | |
19 | g.17283402G>A | CA404744923 | ANKLE1 | c.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 |
19 | g.17283402G>C | CA404744922 | ANKLE1 | c.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 | |
19 | g.17283402G>T | CA404744921 | ANKLE1 | c.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 | |
19 | g.17283403G>A | CA404744924 | ANKLE1 | c.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 |
19 | g.17283403G>C | CA404744925 | ANKLE1 | c.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 | |
19 | g.17283403G>T | CA404744926 | ANKLE1 | c.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 | |
19 | g.17283404G>A | CA404744927 | ANKLE1 | c.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 | |
19 | g.17283404G>C | CA404744928 | ANKLE1 | c.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 | |
19 | g.17283404G= | CA2325780515 | ANKLE1 | c.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= | |
19 | g.17283404G>T | CA9291153 | ANKLE1 | c.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 |
19 | g.17283405A>C | CA404744931 | ANKLE1 | c.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 | |
19 | g.17283405A>G | CA404744929 | ANKLE1 | c.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 | |
19 | g.17283405A>T | CA404744930 | ANKLE1 | c.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 | |
19 | g.17283406T>A | CA404744932 | ANKLE1 | c.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 | |
19 | g.17283406T>C | CA506095599 | ANKLE1 | c.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 | |
19 | g.17283406T>G | CA404744933 | ANKLE1 | c.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 | |
19 | g.17283407T>A | CA404744934 | ANKLE1 | c.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 | |
19 | g.17283407T>C | CA404744935 | ANKLE1 | c.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 | |
19 | g.17283407T>G | CA404744936 | ANKLE1 | c.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 | |
19 | g.17283408A>C | CA404744937 | ANKLE1 | c.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 | |
19 | g.17283408A>G | CA404744939 | ANKLE1 | c.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 | |
19 | g.17283408A>T | CA404744938 | ANKLE1 | c.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 | |
19 | g.17283409C>A | CA404744940 | ANKLE1 | c.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 | |
19 | g.17283409C>G | CA404744941 | ANKLE1 | c.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 | |
19 | g.17283409C>T | CA506095602 | ANKLE1 | c.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 | |
19 | g.17283410A= | CA2325780516 | ANKLE1 | c.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= | |
19 | g.17283410A>C | CA404744942 | ANKLE1 | c.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 | |
19 | g.17283410A>G | CA404744943 | ANKLE1 | c.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 |
19 | g.17283410A>T | CA404744944 | ANKLE1 | c.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 | |
19 | g.17283411G>A | CA404744945 | ANKLE1 | c.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 |
19 | g.17283411G>C | CA404744946 | ANKLE1 | c.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 | |
19 | g.17283411G= | CA2325780517 | ANKLE1 | c.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= | |
19 | g.17283411G>T | CA404744947 | ANKLE1 | c.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 | |
19 | g.17283412C>A | CA404744948 | ANKLE1 | c.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 | |
19 | g.17283412C>G | CA404744949 | ANKLE1 | c.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 | |
19 | g.17283412C>T | CA506095605 | ANKLE1 | c.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 |
19 | g.17283413T>A | CA404744952 | ANKLE1 | c.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 | |
19 | g.17283413T>C | CA404744950 | ANKLE1 | c.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 | |
19 | g.17283413T>G | CA404744951 | ANKLE1 | c.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 | |
19 | g.17283414C>A | CA404744953 | ANKLE1 | c.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 | |
19 | g.17283414C= | CA2325780518 | ANKLE1 | c.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= | |
19 | g.17283414C>G | CA404744954 | ANKLE1 | c.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 |
19 | g.17283414C>T | CA9291154 | ANKLE1 | c.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 |
19 | g.17283415A>C | CA506095607 | ANKLE1 | c.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 |
19 | g.17283415A>G | CA506095608 | ANKLE1 | c.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 | |
19 | g.17283415A>T | CA506095609 | ANKLE1 | c.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 | |
19 | g.17283415dup | CA920071424 | ANKLE1 | c.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 |
19 | g.17283416G>A | CA404744955 | ANKLE1 | c.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 | |
19 | g.17283416G>C | CA404744957 | ANKLE1 | c.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 |
19 | g.17283416G>T | CA404744956 | ANKLE1 | c.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 | |
19 | g.17283417A>C | CA404744958 | ANKLE1 | c.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 | |
19 | g.17283417A>G | CA404744960 | ANKLE1 | c.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 | |
19 | g.17283417A>T | CA404744959 | ANKLE1 | c.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 | |
19 | g.17283418C>A | CA404744961 | ANKLE1 | c.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 |
19 | g.17283418C= | CA2325780519 | ANKLE1 | c.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= | |
19 | g.17283418C>G | CA404744962 | ANKLE1 | c.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 | |
19 | g.17283418C>T | CA9291155 | ANKLE1 | c.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 |
19 | g.17283419G>A | CA9291156 | ANKLE1 | c.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 |
19 | g.17283419G>C | CA404744963 | ANKLE1 | c.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 |
19 | g.17283419G= | CA2325780520 | ANKLE1 | c.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= | |
19 | g.17283419G>T | CA404744964 | ANKLE1 | c.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 | |
19 | g.17283420C>A | CA404744965 | ANKLE1 | c.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 |
19 | g.17283420C>G | CA404744966 | ANKLE1 | c.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 | |
19 | g.17283420C>T | CA404744967 | ANKLE1 | c.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 |
19 | g.17283421C>A | CA506095615 | ANKLE1 | c.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 | |
19 | g.17283421C= | CA2325780521 | ANKLE1 | c.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= | |
19 | g.17283421C>G | CA506095617 | ANKLE1 | c.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 | |
19 | g.17283421C>T | CA506095618 | ANKLE1 | c.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 |