| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17283315dup | CA645613363 | ANKLE1 | c.551dup (p.Leu184PhefsTer4) n.768dup c.518dup (p.Leu173PhefsTer4) c.713dup (p.Leu238PhefsTer4) c.*450dup (n.*450dup) n.664dup c.553dup c.680dup (p.Leu227PhefsTer4) c.617dup (p.Leu206PhefsTer4) n.827dup c.509dup (p.Leu170PhefsTer4) n.571dup | COSMIC COSMIC |
| 19 | g.17283315T>A | CA404744749 | ANKLE1 | c.551T>A (p.Leu184Ter) n.768T>A c.518T>A (p.Leu173Ter) c.713T>A (p.Leu238Ter) c.*450T>A (n.*450T>A) n.664T>A c.553T>A c.680T>A (p.Leu227Ter) c.617T>A (p.Leu206Ter) n.827T>A c.509T>A (p.Leu170Ter) n.571T>A | |
| 19 | g.17283315T>C | CA404744750 | ANKLE1 | c.551T>C (p.Leu184Ser) n.768T>C c.518T>C (p.Leu173Ser) c.713T>C (p.Leu238Ser) c.*450T>C (n.*450T>C) n.664T>C c.553T>C c.680T>C (p.Leu227Ser) c.617T>C (p.Leu206Ser) n.827T>C c.509T>C (p.Leu170Ser) n.571T>C | |
| 19 | g.17283315T>G | CA9291130 | ANKLE1 | c.551T>G (p.Leu184Trp) n.768T>G c.518T>G (p.Leu173Trp) c.713T>G (p.Leu238Trp) c.*450T>G (n.*450T>G) n.664T>G c.553T>G c.680T>G (p.Leu227Trp) c.617T>G (p.Leu206Trp) n.827T>G c.509T>G (p.Leu170Trp) n.571T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17283315T= | CA2325780465 | ANKLE1 | c.551T= (p.Leu184=) n.768T= c.518T= (p.Leu173=) c.713T= (p.Leu238=) c.*450T= (n.*450T=) n.664T= c.553T= c.680T= (p.Leu227=) c.617T= (p.Leu206=) n.827T= c.509T= (p.Leu170=) n.571T= | |
| 19 | g.17283316G>A | CA506095578 | ANKLE1 | c.552G>A (p.Leu184=) n.769G>A c.519G>A (p.Leu173=) c.714G>A (p.Leu238=) c.*451G>A (n.*451G>A) n.665G>A c.554G>A c.681G>A (p.Leu227=) c.618G>A (p.Leu206=) n.828G>A c.510G>A (p.Leu170=) n.572G>A | |
| 19 | g.17283316G>C | CA404744751 | ANKLE1 | c.552G>C (p.Leu184Phe) n.769G>C c.519G>C (p.Leu173Phe) c.714G>C (p.Leu238Phe) c.*451G>C (n.*451G>C) n.665G>C c.554G>C c.681G>C (p.Leu227Phe) c.618G>C (p.Leu206Phe) n.828G>C c.510G>C (p.Leu170Phe) n.572G>C | |
| 19 | g.17283316G= | CA2325780466 | ANKLE1 | c.552G= (p.Leu184=) n.769G= c.519G= (p.Leu173=) c.714G= (p.Leu238=) c.*451G= (n.*451G=) n.665G= c.554G= c.681G= (p.Leu227=) c.618G= (p.Leu206=) n.828G= c.510G= (p.Leu170=) n.572G= | |
| 19 | g.17283316G>T | CA9291131 | ANKLE1 | c.552G>T (p.Leu184Phe) n.769G>T c.519G>T (p.Leu173Phe) c.714G>T (p.Leu238Phe) c.*451G>T (n.*451G>T) n.665G>T c.554G>T c.681G>T (p.Leu227Phe) c.618G>T (p.Leu206Phe) n.828G>T c.510G>T (p.Leu170Phe) n.572G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.17283317G>A | CA404744752 | ANKLE1 | c.553G>A (p.Glu185Lys) n.770G>A c.520G>A (p.Glu174Lys) c.715G>A (p.Glu239Lys) c.*452G>A (n.*452G>A) n.666G>A c.555G>A c.682G>A (p.Glu228Lys) c.619G>A (p.Glu207Lys) n.829G>A c.511G>A (p.Glu171Lys) n.573G>A | dbSNP |
| 19 | g.17283317G>C | CA404744753 | ANKLE1 | c.553G>C (p.Glu185Gln) n.770G>C c.520G>C (p.Glu174Gln) c.715G>C (p.Glu239Gln) c.*452G>C (n.*452G>C) n.666G>C c.555G>C c.682G>C (p.Glu228Gln) c.619G>C (p.Glu207Gln) n.829G>C c.511G>C (p.Glu171Gln) n.573G>C | |
| 19 | g.17283317G= | CA2325780467 | ANKLE1 | c.553G= (p.Glu185=) n.770G= c.520G= (p.Glu174=) c.715G= (p.Glu239=) c.*452G= (n.*452G=) n.666G= c.555G= c.682G= (p.Glu228=) c.619G= (p.Glu207=) n.829G= c.511G= (p.Glu171=) n.573G= | |
| 19 | g.17283317G>T | CA404744754 | ANKLE1 | c.553G>T (p.Glu185Ter) n.770G>T c.520G>T (p.Glu174Ter) c.715G>T (p.Glu239Ter) c.*452G>T (n.*452G>T) n.666G>T c.555G>T c.682G>T (p.Glu228Ter) c.619G>T (p.Glu207Ter) n.829G>T c.511G>T (p.Glu171Ter) n.573G>T | |
| 19 | g.17283318A= | CA2325780468 | ANKLE1 | c.554A= (p.Glu185=) n.771A= c.521A= (p.Glu174=) c.716A= (p.Glu239=) c.*453A= (n.*453A=) n.667A= c.556A= c.683A= (p.Glu228=) c.620A= (p.Glu207=) n.830A= c.512A= (p.Glu171=) n.574A= | |
| 19 | g.17283318A>C | CA404744756 | ANKLE1 | c.554A>C (p.Glu185Ala) n.771A>C c.521A>C (p.Glu174Ala) c.716A>C (p.Glu239Ala) c.*453A>C (n.*453A>C) n.667A>C c.556A>C c.683A>C (p.Glu228Ala) c.620A>C (p.Glu207Ala) n.830A>C c.512A>C (p.Glu171Ala) n.574A>C | |
| 19 | g.17283318A>G | CA9291132 | ANKLE1 | c.554A>G (p.Glu185Gly) n.771A>G c.521A>G (p.Glu174Gly) c.716A>G (p.Glu239Gly) c.*453A>G (n.*453A>G) n.667A>G c.556A>G c.683A>G (p.Glu228Gly) c.620A>G (p.Glu207Gly) n.830A>G c.512A>G (p.Glu171Gly) n.574A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.17283318A>T | CA404744755 | ANKLE1 | c.554A>T (p.Glu185Val) n.771A>T c.521A>T (p.Glu174Val) c.716A>T (p.Glu239Val) c.*453A>T (n.*453A>T) n.667A>T c.556A>T c.683A>T (p.Glu228Val) c.620A>T (p.Glu207Val) n.830A>T c.512A>T (p.Glu171Val) n.574A>T | gnomAD v4 |
| 19 | g.17283319G>A | CA506095582 | ANKLE1 | c.555G>A (p.Glu185=) n.772G>A c.522G>A (p.Glu174=) c.717G>A (p.Glu239=) c.*454G>A (n.*454G>A) n.668G>A c.557G>A c.684G>A (p.Glu228=) c.621G>A (p.Glu207=) n.831G>A c.513G>A (p.Glu171=) n.575G>A | |
| 19 | g.17283319G>C | CA404744757 | ANKLE1 | c.555G>C (p.Glu185Asp) n.772G>C c.522G>C (p.Glu174Asp) c.717G>C (p.Glu239Asp) c.*454G>C (n.*454G>C) n.668G>C c.557G>C c.684G>C (p.Glu228Asp) c.621G>C (p.Glu207Asp) n.831G>C c.513G>C (p.Glu171Asp) n.575G>C | |
| 19 | g.17283319G>T | CA404744758 | ANKLE1 | c.555G>T (p.Glu185Asp) n.772G>T c.522G>T (p.Glu174Asp) c.717G>T (p.Glu239Asp) c.*454G>T (n.*454G>T) n.668G>T c.557G>T c.684G>T (p.Glu228Asp) c.621G>T (p.Glu207Asp) n.831G>T c.513G>T (p.Glu171Asp) n.575G>T | |
| 19 | g.17283320G>A | CA306086205 | ANKLE1 | c.556G>A (p.Ala186Thr) n.773G>A c.523G>A (p.Ala175Thr) c.718G>A (p.Ala240Thr) c.*455G>A (n.*455G>A) n.669G>A c.558G>A c.685G>A (p.Ala229Thr) c.622G>A (p.Ala208Thr) n.832G>A c.514G>A (p.Ala172Thr) n.576G>A | dbSNP |
| 19 | g.17283320G>C | CA404744759 | ANKLE1 | c.556G>C (p.Ala186Pro) n.773G>C c.523G>C (p.Ala175Pro) c.718G>C (p.Ala240Pro) c.*455G>C (n.*455G>C) n.669G>C c.558G>C c.685G>C (p.Ala229Pro) c.622G>C (p.Ala208Pro) n.832G>C c.514G>C (p.Ala172Pro) n.576G>C | |
| 19 | g.17283320G= | CA2325780469 | ANKLE1 | c.556G= (p.Ala186=) n.773G= c.523G= (p.Ala175=) c.718G= (p.Ala240=) c.*455G= (n.*455G=) n.669G= c.558G= c.685G= (p.Ala229=) c.622G= (p.Ala208=) n.832G= c.514G= (p.Ala172=) n.576G= | |
| 19 | g.17283320G>T | CA404744760 | ANKLE1 | c.556G>T (p.Ala186Ser) n.773G>T c.523G>T (p.Ala175Ser) c.718G>T (p.Ala240Ser) c.*455G>T (n.*455G>T) n.669G>T c.558G>T c.685G>T (p.Ala229Ser) c.622G>T (p.Ala208Ser) n.832G>T c.514G>T (p.Ala172Ser) n.576G>T | |
| 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.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= |