| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46726036G>A | CA380265253 | F2 | c.737G>A (p.Ser246Asn) c.707G>A (p.Ser236Asn) n.517G>A c.689G>A (p.Ser230Asn) n.781G>A n.772G>A | gnomAD v4 |
| 11 | g.46726036G>C | CA380265255 | F2 | c.737G>C (p.Ser246Thr) c.707G>C (p.Ser236Thr) n.517G>C c.689G>C (p.Ser230Thr) n.781G>C n.772G>C | |
| 11 | g.46726036G>T | CA380265252 | F2 | c.737G>T (p.Ser246Ile) c.707G>T (p.Ser236Ile) n.517G>T c.689G>T (p.Ser230Ile) n.781G>T n.772G>T | |
| 11 | g.46726037C>A | CA380265257 | F2 | c.738C>A (p.Ser246Arg) c.708C>A (p.Ser236Arg) n.518C>A c.690C>A (p.Ser230Arg) n.782C>A n.773C>A | |
| 11 | g.46726037C>G | CA380265259 | F2 | c.738C>G (p.Ser246Arg) c.708C>G (p.Ser236Arg) n.518C>G c.690C>G (p.Ser230Arg) n.782C>G n.773C>G | |
| 11 | g.46726037C>T | CA474043751 | F2 | c.738C>T (p.Ser246=) c.708C>T (p.Ser236=) n.518C>T c.690C>T (p.Ser230=) n.782C>T n.773C>T | |
| 11 | g.46726038A>C | CA380265262 | F2 | c.739A>C (p.Lys247Gln) c.709A>C (p.Lys237Gln) n.519A>C c.691A>C (p.Lys231Gln) n.783A>C n.774A>C | |
| 11 | g.46726038A>G | CA380265264 | F2 | c.739A>G (p.Lys247Glu) c.709A>G (p.Lys237Glu) n.519A>G c.691A>G (p.Lys231Glu) n.783A>G n.774A>G | gnomAD v4 |
| 11 | g.46726038A>T | CA380265266 | F2 | c.739A>T (p.Lys247Ter) c.709A>T (p.Lys237Ter) n.519A>T c.691A>T (p.Lys231Ter) n.783A>T n.774A>T | |
| 11 | g.46726039A>C | CA380265268 | F2 | c.740A>C (p.Lys247Thr) c.710A>C (p.Lys237Thr) n.520A>C c.692A>C (p.Lys231Thr) n.784A>C n.775A>C | |
| 11 | g.46726039A>G | CA380265270 | F2 | c.740A>G (p.Lys247Arg) c.710A>G (p.Lys237Arg) n.520A>G c.692A>G (p.Lys231Arg) n.784A>G n.775A>G | |
| 11 | g.46726039A>T | CA380265273 | F2 | c.740A>T (p.Lys247Met) c.710A>T (p.Lys237Met) n.520A>T c.692A>T (p.Lys231Met) n.784A>T n.775A>T | |
| 11 | g.46726040G>A | CA474043752 | F2 | c.741G>A (p.Lys247=) c.711G>A (p.Lys237=) n.521G>A c.693G>A (p.Lys231=) n.785G>A n.776G>A | |
| 11 | g.46726040G>C | CA380265274 | F2 | c.741G>C (p.Lys247Asn) c.711G>C (p.Lys237Asn) n.521G>C c.693G>C (p.Lys231Asn) n.785G>C n.776G>C | gnomAD v4 |
| 11 | g.46726040G>T | CA380265276 | F2 | c.741G>T (p.Lys247Asn) c.711G>T (p.Lys237Asn) n.521G>T c.693G>T (p.Lys231Asn) n.785G>T n.776G>T | |
| 11 | g.46726041C>A | CA380265277 | F2 | c.742C>A (p.His248Asn) c.712C>A (p.His238Asn) n.522C>A c.694C>A (p.His232Asn) n.786C>A n.777C>A | |
| 11 | g.46726041C>G | CA380265279 | F2 | c.742C>G (p.His248Asp) c.712C>G (p.His238Asp) n.522C>G c.694C>G (p.His232Asp) n.786C>G n.777C>G | gnomAD v4 |
| 11 | g.46726041C>T | CA380265281 | F2 | c.742C>T (p.His248Tyr) c.712C>T (p.His238Tyr) n.522C>T c.694C>T (p.His232Tyr) n.786C>T n.777C>T | |
| 11 | g.46726042A= | CA1969072197 | F2 | c.743A= (p.His248=) c.713A= (p.His238=) n.523A= c.695A= (p.His232=) n.787A= n.778A= | |
| 11 | g.46726042A>C | CA380265286 | F2 | c.743A>C (p.His248Pro) c.713A>C (p.His238Pro) n.523A>C c.695A>C (p.His232Pro) n.787A>C n.778A>C | |
| 11 | g.46726042A>G | CA380265285 | F2 | c.743A>G (p.His248Arg) c.713A>G (p.His238Arg) n.523A>G c.695A>G (p.His232Arg) n.787A>G n.778A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726042A>T | CA380265282 | F2 | c.743A>T (p.His248Leu) c.713A>T (p.His238Leu) n.523A>T c.695A>T (p.His232Leu) n.787A>T n.778A>T | |
| 11 | g.46726043C>A | CA380265288 | F2 | c.744C>A (p.His248Gln) c.714C>A (p.His238Gln) n.524C>A c.696C>A (p.His232Gln) n.788C>A n.779C>A | |
| 11 | g.46726043C>G | CA380265290 | F2 | c.744C>G (p.His248Gln) c.714C>G (p.His238Gln) n.524C>G c.696C>G (p.His232Gln) n.788C>G n.779C>G | |
| 11 | g.46726043C>T | CA474043753 | F2 | c.744C>T (p.His248=) c.714C>T (p.His238=) n.524C>T c.696C>T (p.His232=) n.788C>T n.779C>T | |
| 11 | g.46726044C>A | CA380265293 | F2 | c.745C>A (p.Gln249Lys) c.715C>A (p.Gln239Lys) n.525C>A c.697C>A (p.Gln233Lys) n.789C>A n.780C>A | |
| 11 | g.46726044C>G | CA380265294 | F2 | c.745C>G (p.Gln249Glu) c.715C>G (p.Gln239Glu) n.525C>G c.697C>G (p.Gln233Glu) n.789C>G n.780C>G | |
| 11 | g.46726044C>T | CA380265297 | F2 | c.745C>T (p.Gln249Ter) c.715C>T (p.Gln239Ter) n.525C>T c.697C>T (p.Gln233Ter) n.789C>T n.780C>T | |
| 11 | g.46726045A>C | CA380265298 | F2 | c.746A>C (p.Gln249Pro) c.716A>C (p.Gln239Pro) n.526A>C c.698A>C (p.Gln233Pro) n.790A>C n.781A>C | |
| 11 | g.46726045A>G | CA380265302 | F2 | c.746A>G (p.Gln249Arg) c.716A>G (p.Gln239Arg) n.526A>G c.698A>G (p.Gln233Arg) n.790A>G n.781A>G | gnomAD v4 |
| 11 | g.46726045A>T | CA380265303 | F2 | c.746A>T (p.Gln249Leu) c.716A>T (p.Gln239Leu) n.526A>T c.698A>T (p.Gln233Leu) n.790A>T n.781A>T | |
| 11 | g.46726046G>A | CA474043754 | F2 | c.747G>A (p.Gln249=) c.717G>A (p.Gln239=) n.527G>A c.699G>A (p.Gln233=) n.791G>A n.782G>A | |
| 11 | g.46726046G>C | CA380265304 | F2 | c.747G>C (p.Gln249His) c.717G>C (p.Gln239His) n.527G>C c.699G>C (p.Gln233His) n.791G>C n.782G>C | gnomAD v4 |
| 11 | g.46726046G>T | CA380265306 | F2 | c.747G>T (p.Gln249His) c.717G>T (p.Gln239His) n.527G>T c.699G>T (p.Gln233His) n.791G>T n.782G>T | |
| 11 | g.46726047G>A | CA380265308 | F2 | c.748G>A (p.Asp250Asn) c.718G>A (p.Asp240Asn) n.528G>A c.700G>A (p.Asp234Asn) n.792G>A n.783G>A | |
| 11 | g.46726047G>C | CA380265310 | F2 | c.748G>C (p.Asp250His) c.718G>C (p.Asp240His) n.528G>C c.700G>C (p.Asp234His) n.792G>C n.783G>C | |
| 11 | g.46726047G>T | CA380265312 | F2 | c.748G>T (p.Asp250Tyr) c.718G>T (p.Asp240Tyr) n.528G>T c.700G>T (p.Asp234Tyr) n.792G>T n.783G>T | |
| 11 | g.46726048A>C | CA380265318 | F2 | c.749A>C (p.Asp250Ala) c.719A>C (p.Asp240Ala) n.529A>C c.701A>C (p.Asp234Ala) n.793A>C n.784A>C | |
| 11 | g.46726048A>G | CA380265316 | F2 | c.749A>G (p.Asp250Gly) c.719A>G (p.Asp240Gly) n.529A>G c.701A>G (p.Asp234Gly) n.793A>G n.784A>G | gnomAD v4 |
| 11 | g.46726048A>T | CA380265315 | F2 | c.749A>T (p.Asp250Val) c.719A>T (p.Asp240Val) n.529A>T c.701A>T (p.Asp234Val) n.793A>T n.784A>T | |
| 11 | g.46726049C>A | CA380265323 | F2 | c.750C>A (p.Asp250Glu) c.720C>A (p.Asp240Glu) n.530C>A c.702C>A (p.Asp234Glu) n.794C>A n.785C>A | |
| 11 | g.46726049C>G | CA380265320 | F2 | c.750C>G (p.Asp250Glu) c.720C>G (p.Asp240Glu) n.530C>G c.702C>G (p.Asp234Glu) n.794C>G n.785C>G | |
| 11 | g.46726049C>T | CA474043755 | F2 | c.750C>T (p.Asp250=) c.720C>T (p.Asp240=) n.530C>T c.702C>T (p.Asp234=) n.794C>T n.785C>T | |
| 11 | g.46726050T>A | CA380265326 | F2 | c.751T>A (p.Phe251Ile) c.721T>A (p.Phe241Ile) n.531T>A c.703T>A (p.Phe235Ile) n.795T>A n.786T>A | |
| 11 | g.46726050T>C | CA380265327 | F2 | c.751T>C (p.Phe251Leu) c.721T>C (p.Phe241Leu) n.531T>C c.703T>C (p.Phe235Leu) n.795T>C n.786T>C | |
| 11 | g.46726050T>G | CA380265328 | F2 | c.751T>G (p.Phe251Val) c.721T>G (p.Phe241Val) n.531T>G c.703T>G (p.Phe235Val) n.795T>G n.786T>G | |
| 11 | g.46726051T>A | CA380265331 | F2 | c.752T>A (p.Phe251Tyr) c.722T>A (p.Phe241Tyr) n.532T>A c.704T>A (p.Phe235Tyr) n.796T>A n.787T>A | gnomAD v4 |
| 11 | g.46726051T>C | CA380265334 | F2 | c.752T>C (p.Phe251Ser) c.722T>C (p.Phe241Ser) n.532T>C c.704T>C (p.Phe235Ser) n.796T>C n.787T>C | |
| 11 | g.46726051T>G | CA380265335 | F2 | c.752T>G (p.Phe251Cys) c.722T>G (p.Phe241Cys) n.532T>G c.704T>G (p.Phe235Cys) n.796T>G n.787T>G | |
| 11 | g.46726052C>A | CA380265337 | F2 | c.753C>A (p.Phe251Leu) c.723C>A (p.Phe241Leu) n.533C>A c.705C>A (p.Phe235Leu) n.797C>A n.788C>A | |
| 11 | g.46726052C>G | CA380265340 | F2 | c.753C>G (p.Phe251Leu) c.723C>G (p.Phe241Leu) n.533C>G c.705C>G (p.Phe235Leu) n.797C>G n.788C>G | |
| 11 | g.46726052C>T | CA474043756 | F2 | c.753C>T (p.Phe251=) c.723C>T (p.Phe241=) n.533C>T c.705C>T (p.Phe235=) n.797C>T n.788C>T | |
| 11 | g.46726053A= | CA1969072199 | F2 | c.754A= (p.Asn252=) c.724A= (p.Asn242=) n.534A= c.706A= (p.Asn236=) n.798A= n.789A= | |
| 11 | g.46726053A>C | CA380265344 | F2 | c.754A>C (p.Asn252His) c.724A>C (p.Asn242His) n.534A>C c.706A>C (p.Asn236His) n.798A>C n.789A>C | dbSNP gnomAD v4 |
| 11 | g.46726053A>G | CA380265345 | F2 | c.754A>G (p.Asn252Asp) c.724A>G (p.Asn242Asp) n.534A>G c.706A>G (p.Asn236Asp) n.798A>G n.789A>G | |
| 11 | g.46726053A>T | CA380265346 | F2 | c.754A>T (p.Asn252Tyr) c.724A>T (p.Asn242Tyr) n.534A>T c.706A>T (p.Asn236Tyr) n.798A>T n.789A>T | |
| 11 | g.46726054A= | CA1969072201 | F2 | c.755A= (p.Asn252=) c.725A= (p.Asn242=) n.535A= c.707A= (p.Asn236=) n.799A= n.790A= | |
| 11 | g.46726054A>C | CA221652057 | F2 | c.755A>C (p.Asn252Thr) c.725A>C (p.Asn242Thr) n.535A>C c.707A>C (p.Asn236Thr) n.799A>C n.790A>C | dbSNP gnomAD v4 |
| 11 | g.46726054A>G | CA380265352 | F2 | c.755A>G (p.Asn252Ser) c.725A>G (p.Asn242Ser) n.535A>G c.707A>G (p.Asn236Ser) n.799A>G n.790A>G | COSMIC |
| 11 | g.46726054A>T | CA380265349 | F2 | c.755A>T (p.Asn252Ile) c.725A>T (p.Asn242Ile) n.535A>T c.707A>T (p.Asn236Ile) n.799A>T n.790A>T | |
| 11 | g.46726055C>A | CA380265355 | F2 | c.756C>A (p.Asn252Lys) c.726C>A (p.Asn242Lys) n.536C>A c.708C>A (p.Asn236Lys) n.800C>A n.791C>A | |
| 11 | g.46726055C>G | CA380265357 | F2 | c.756C>G (p.Asn252Lys) c.726C>G (p.Asn242Lys) n.536C>G c.708C>G (p.Asn236Lys) n.800C>G n.791C>G | |
| 11 | g.46726055C>T | CA474043757 | F2 | c.756C>T (p.Asn252=) c.726C>T (p.Asn242=) n.536C>T c.708C>T (p.Asn236=) n.800C>T n.791C>T | |
| 11 | g.46726056T>A | CA380265360 | F2 | c.757T>A (p.Ser253Thr) c.727T>A (p.Ser243Thr) n.537T>A c.709T>A (p.Ser237Thr) n.801T>A n.792T>A | |
| 11 | g.46726056T>C | CA380265361 | F2 | c.757T>C (p.Ser253Pro) c.727T>C (p.Ser243Pro) n.537T>C c.709T>C (p.Ser237Pro) n.801T>C n.792T>C | |
| 11 | g.46726056T>G | CA380265364 | F2 | c.757T>G (p.Ser253Ala) c.727T>G (p.Ser243Ala) n.537T>G c.709T>G (p.Ser237Ala) n.801T>G n.792T>G | |
| 11 | g.46726057C>A | CA380265368 | F2 | c.758C>A (p.Ser253Ter) c.728C>A (p.Ser243Ter) n.538C>A c.710C>A (p.Ser237Ter) n.802C>A n.793C>A | |
| 11 | g.46726057C>G | CA380265365 | F2 | c.758C>G (p.Ser253Ter) c.728C>G (p.Ser243Ter) n.538C>G c.710C>G (p.Ser237Ter) n.802C>G n.793C>G | |
| 11 | g.46726057C>T | CA380265366 | F2 | c.758C>T (p.Ser253Leu) c.728C>T (p.Ser243Leu) n.538C>T c.710C>T (p.Ser237Leu) n.802C>T n.793C>T | |
| 11 | g.46726058A= | CA1969072203 | F2 | c.759A= (p.Ser253=) c.729A= (p.Ser243=) n.539A= c.711A= (p.Ser237=) n.803A= n.794A= | |
| 11 | g.46726058A>C | CA474043758 | F2 | c.759A>C (p.Ser253=) c.729A>C (p.Ser243=) n.539A>C c.711A>C (p.Ser237=) n.803A>C n.794A>C | |
| 11 | g.46726058A>G | CA474043759 | F2 | c.759A>G (p.Ser253=) c.729A>G (p.Ser243=) n.539A>G c.711A>G (p.Ser237=) n.803A>G n.794A>G | |
| 11 | g.46726058A>T | CA221652058 | F2 | c.759A>T (p.Ser253=) c.729A>T (p.Ser243=) n.539A>T c.711A>T (p.Ser237=) n.803A>T n.794A>T | dbSNP gnomAD v4 |
| 11 | g.46726059G>A | CA380265372 | F2 | c.760G>A (p.Ala254Thr) c.730G>A (p.Ala244Thr) n.540G>A c.712G>A (p.Ala238Thr) n.804G>A n.795G>A | |
| 11 | g.46726059G>C | CA380265378 | F2 | c.760G>C (p.Ala254Pro) c.730G>C (p.Ala244Pro) n.540G>C c.712G>C (p.Ala238Pro) n.804G>C n.795G>C | gnomAD v4 |
| 11 | g.46726059G>T | CA380265380 | F2 | c.760G>T (p.Ala254Ser) c.730G>T (p.Ala244Ser) n.540G>T c.712G>T (p.Ala238Ser) n.804G>T n.795G>T | |
| 11 | g.46726060C>A | CA380265381 | F2 | c.761C>A (p.Ala254Asp) c.731C>A (p.Ala244Asp) n.541C>A c.713C>A (p.Ala238Asp) n.805C>A n.796C>A | |
| 11 | g.46726060C>G | CA380265385 | F2 | c.761C>G (p.Ala254Gly) c.731C>G (p.Ala244Gly) n.541C>G c.713C>G (p.Ala238Gly) n.805C>G n.796C>G | |
| 11 | g.46726060C>T | CA380265386 | F2 | c.761C>T (p.Ala254Val) c.731C>T (p.Ala244Val) n.541C>T c.713C>T (p.Ala238Val) n.805C>T n.796C>T | |
| 11 | g.46726061T>A | CA474043760 | F2 | c.762T>A (p.Ala254=) c.732T>A (p.Ala244=) n.542T>A c.714T>A (p.Ala238=) n.806T>A n.797T>A | |
| 11 | g.46726061T>C | CA474043761 | F2 | c.762T>C (p.Ala254=) c.732T>C (p.Ala244=) n.542T>C c.714T>C (p.Ala238=) n.806T>C n.797T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.46726061T>G | CA474043762 | F2 | c.762T>G (p.Ala254=) c.732T>G (p.Ala244=) n.542T>G c.714T>G (p.Ala238=) n.806T>G n.797T>G | |
| 11 | g.46726062G>A | CA5967047 | F2 | c.763G>A (p.Val255Met) c.733G>A (p.Val245Met) n.543G>A c.715G>A (p.Val239Met) n.807G>A n.798G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726062G>C | CA221652069 | F2 | c.763G>C (p.Val255Leu) c.733G>C (p.Val245Leu) n.543G>C c.715G>C (p.Val239Leu) n.807G>C n.798G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726062G= | CA1969072205 | F2 | c.763G= (p.Val255=) c.733G= (p.Val245=) n.543G= c.715G= (p.Val239=) n.807G= n.798G= | |
| 11 | g.46726062G>T | CA380265387 | F2 | c.763G>T (p.Val255Leu) c.733G>T (p.Val245Leu) n.543G>T c.715G>T (p.Val239Leu) n.807G>T n.798G>T | |
| 11 | g.46726063T>A | CA380265396 | F2 | c.764T>A (p.Val255Glu) c.734T>A (p.Val245Glu) n.544T>A c.716T>A (p.Val239Glu) n.808T>A n.799T>A | |
| 11 | g.46726063T>C | CA380265400 | F2 | c.764T>C (p.Val255Ala) c.734T>C (p.Val245Ala) n.544T>C c.716T>C (p.Val239Ala) n.808T>C n.799T>C | |
| 11 | g.46726063T>G | CA380265403 | F2 | c.764T>G (p.Val255Gly) c.734T>G (p.Val245Gly) n.544T>G c.716T>G (p.Val239Gly) n.808T>G n.799T>G | |
| 11 | g.46726064G>A | CA474043763 | F2 | c.765G>A (p.Val255=) c.735G>A (p.Val245=) n.545G>A c.717G>A (p.Val239=) n.809G>A n.800G>A | |
| 11 | g.46726064G>C | CA474043764 | F2 | c.765G>C (p.Val255=) c.735G>C (p.Val245=) n.545G>C c.717G>C (p.Val239=) n.809G>C n.800G>C | |
| 11 | g.46726064G>T | CA474043765 | F2 | c.765G>T (p.Val255=) c.735G>T (p.Val245=) n.545G>T c.717G>T (p.Val239=) n.809G>T n.800G>T | |
| 11 | g.46726065C>A | CA380265408 | F2 | c.766C>A (p.Gln256Lys) c.736C>A (p.Gln246Lys) c.718C>A (p.Gln240Lys) n.810C>A n.801C>A | |
| 11 | g.46726065C>G | CA380265411 | F2 | c.766C>G (p.Gln256Glu) c.736C>G (p.Gln246Glu) c.718C>G (p.Gln240Glu) n.810C>G n.801C>G | |
| 11 | g.46726065C>T | CA380265414 | F2 | c.766C>T (p.Gln256Ter) c.736C>T (p.Gln246Ter) c.718C>T (p.Gln240Ter) n.810C>T n.801C>T | |
| 11 | g.46726066A>C | CA380265415 | F2 | c.767A>C (p.Gln256Pro) c.737A>C (p.Gln246Pro) c.719A>C (p.Gln240Pro) n.811A>C n.802A>C | |
| 11 | g.46726066A>G | CA380265417 | F2 | c.767A>G (p.Gln256Arg) c.737A>G (p.Gln246Arg) c.719A>G (p.Gln240Arg) n.811A>G n.802A>G | |
| 11 | g.46726066A>T | CA380265418 | F2 | c.767A>T (p.Gln256Leu) c.737A>T (p.Gln246Leu) c.719A>T (p.Gln240Leu) n.811A>T n.802A>T | |
| 11 | g.46726067G>A | CA474043766 | F2 | c.768G>A (p.Gln256=) c.738G>A (p.Gln246=) c.720G>A (p.Gln240=) n.812G>A n.803G>A | gnomAD v4 |
| 11 | g.46726067G>C | CA380265421 | F2 | c.768G>C (p.Gln256His) c.738G>C (p.Gln246His) c.720G>C (p.Gln240His) n.812G>C n.803G>C | gnomAD v4 |
| 11 | g.46726067G>T | CA380265424 | F2 | c.768G>T (p.Gln256His) c.738G>T (p.Gln246His) c.720G>T (p.Gln240His) n.812G>T n.803G>T | |
| 11 | g.46726068C>A | CA380265427 | F2 | c.769C>A (p.Leu257Met) c.739C>A (p.Leu247Met) c.721C>A (p.Leu241Met) n.813C>A n.804C>A | |
| 11 | g.46726068C>G | CA380265430 | F2 | c.769C>G (p.Leu257Val) c.739C>G (p.Leu247Val) c.721C>G (p.Leu241Val) n.813C>G n.804C>G | gnomAD v4 |
| 11 | g.46726068C>T | CA474043767 | F2 | c.769C>T (p.Leu257=) c.739C>T (p.Leu247=) c.721C>T (p.Leu241=) n.813C>T n.804C>T | |
| 11 | g.46726069T>A | CA380265439 | F2 | c.770T>A (p.Leu257Gln) c.740T>A (p.Leu247Gln) c.722T>A (p.Leu241Gln) n.814T>A n.805T>A | dbSNP |
| 11 | g.46726069T>C | CA380265437 | F2 | c.770T>C (p.Leu257Pro) c.740T>C (p.Leu247Pro) c.722T>C (p.Leu241Pro) n.814T>C n.805T>C | gnomAD v4 |
| 11 | g.46726069T>G | CA380265433 | F2 | c.770T>G (p.Leu257Arg) c.740T>G (p.Leu247Arg) c.722T>G (p.Leu241Arg) n.814T>G n.805T>G | |
| 11 | g.46726069T= | CA1969072207 | F2 | c.770T= (p.Leu257=) c.740T= (p.Leu247=) c.722T= (p.Leu241=) n.814T= n.805T= | |
| 11 | g.46726070G>A | CA474043768 | F2 | c.771G>A (p.Leu257=) c.741G>A (p.Leu247=) c.723G>A (p.Leu241=) n.815G>A n.806G>A | |
| 11 | g.46726070G>C | CA474043769 | F2 | c.771G>C (p.Leu257=) c.741G>C (p.Leu247=) c.723G>C (p.Leu241=) n.815G>C n.806G>C | |
| 11 | g.46726070G>T | CA474043770 | F2 | c.771G>T (p.Leu257=) c.741G>T (p.Leu247=) c.723G>T (p.Leu241=) n.815G>T n.806G>T | |
| 11 | g.46726071G>A | CA5967048 | F2 | c.772G>A (p.Val258Met) c.742G>A (p.Val248Met) c.724G>A (p.Val242Met) n.816G>A n.807G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726071G>C | CA380265443 | F2 | c.772G>C (p.Val258Leu) c.742G>C (p.Val248Leu) c.724G>C (p.Val242Leu) n.816G>C n.807G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726071G= | CA1969072209 | F2 | c.772G= (p.Val258=) c.742G= (p.Val248=) c.724G= (p.Val242=) n.816G= n.807G= | |
| 11 | g.46726071G>T | CA380265445 | F2 | c.772G>T (p.Val258Leu) c.742G>T (p.Val248Leu) c.724G>T (p.Val242Leu) n.816G>T n.807G>T | |
| 11 | g.46726072T>A | CA380265447 | F2 | c.773T>A (p.Val258Glu) c.743T>A (p.Val248Glu) c.725T>A (p.Val242Glu) n.817T>A n.808T>A | |
| 11 | g.46726072T>C | CA380265448 | F2 | c.773T>C (p.Val258Ala) c.743T>C (p.Val248Ala) c.725T>C (p.Val242Ala) n.817T>C n.808T>C | gnomAD v4 |
| 11 | g.46726072T>G | CA380265451 | F2 | c.773T>G (p.Val258Gly) c.743T>G (p.Val248Gly) c.725T>G (p.Val242Gly) n.817T>G n.808T>G | |
| 11 | g.46726073G>A | CA474043771 | F2 | c.774G>A (p.Val258=) c.744G>A (p.Val248=) c.726G>A (p.Val242=) n.818G>A n.809G>A | |
| 11 | g.46726073G>C | CA474043772 | F2 | c.774G>C (p.Val258=) c.744G>C (p.Val248=) c.726G>C (p.Val242=) n.818G>C n.809G>C | |
| 11 | g.46726073G>T | CA474043773 | F2 | c.774G>T (p.Val258=) c.744G>T (p.Val248=) c.726G>T (p.Val242=) n.818G>T n.809G>T | |
| 11 | g.46726074G>A | CA380265455 | F2 | c.775G>A (p.Glu259Lys) c.745G>A (p.Glu249Lys) c.727G>A (p.Glu243Lys) n.819G>A n.810G>A | |
| 11 | g.46726074G>C | CA380265456 | F2 | c.775G>C (p.Glu259Gln) c.745G>C (p.Glu249Gln) c.727G>C (p.Glu243Gln) n.819G>C n.810G>C | |
| 11 | g.46726074G>T | CA380265457 | F2 | c.775G>T (p.Glu259Ter) c.745G>T (p.Glu249Ter) c.727G>T (p.Glu243Ter) n.819G>T n.810G>T | |
| 11 | g.46726075A= | CA1969072211 | F2 | c.776A= (p.Glu259=) c.746A= (p.Glu249=) c.728A= (p.Glu243=) n.820A= n.811A= | |
| 11 | g.46726075A>C | CA380265458 | F2 | c.776A>C (p.Glu259Ala) c.746A>C (p.Glu249Ala) c.728A>C (p.Glu243Ala) n.820A>C n.811A>C | |
| 11 | g.46726075A>G | CA380265459 | F2 | c.776A>G (p.Glu259Gly) c.746A>G (p.Glu249Gly) c.728A>G (p.Glu243Gly) n.820A>G n.811A>G | dbSNP |
| 11 | g.46726075A>T | CA380265461 | F2 | c.776A>T (p.Glu259Val) c.746A>T (p.Glu249Val) c.728A>T (p.Glu243Val) n.820A>T n.811A>T | |
| 11 | g.46726076G>A | CA474043774 | F2 | c.777G>A (p.Glu259=) c.747G>A (p.Glu249=) c.729G>A (p.Glu243=) n.821G>A n.812G>A | dbSNP |
| 11 | g.46726076G>C | CA380265464 | F2 | c.777G>C (p.Glu259Asp) c.747G>C (p.Glu249Asp) c.729G>C (p.Glu243Asp) n.821G>C n.812G>C | |
| 11 | g.46726076G= | CA1969072213 | F2 | c.777G= (p.Glu259=) c.747G= (p.Glu249=) c.729G= (p.Glu243=) n.821G= n.812G= | |
| 11 | g.46726076G>T | CA380265468 | F2 | c.777G>T (p.Glu259Asp) c.747G>T (p.Glu249Asp) c.729G>T (p.Glu243Asp) n.821G>T n.812G>T | gnomAD v4 |
| 11 | g.46726077A= | CA1969072215 | F2 | c.778A= (p.Asn260=) c.748A= (p.Asn250=) c.730A= (p.Asn244=) n.822A= n.813A= | |
| 11 | g.46726077A>C | CA380265471 | F2 | c.778A>C (p.Asn260His) c.748A>C (p.Asn250His) c.730A>C (p.Asn244His) n.822A>C n.813A>C | gnomAD v4 |
| 11 | g.46726077A>G | CA5967049 | F2 | c.778A>G (p.Asn260Asp) c.748A>G (p.Asn250Asp) c.730A>G (p.Asn244Asp) n.822A>G n.813A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726077A>T | CA380265469 | F2 | c.778A>T (p.Asn260Tyr) c.748A>T (p.Asn250Tyr) c.730A>T (p.Asn244Tyr) n.822A>T n.813A>T | COSMIC |
| 11 | g.46726078A>C | CA380265476 | F2 | c.779A>C (p.Asn260Thr) c.749A>C (p.Asn250Thr) c.731A>C (p.Asn244Thr) n.823A>C n.814A>C | |
| 11 | g.46726078A>G | CA380265479 | F2 | c.779A>G (p.Asn260Ser) c.749A>G (p.Asn250Ser) c.731A>G (p.Asn244Ser) n.823A>G n.814A>G | |
| 11 | g.46726078A>T | CA380265481 | F2 | c.779A>T (p.Asn260Ile) c.749A>T (p.Asn250Ile) c.731A>T (p.Asn244Ile) n.823A>T n.814A>T | |
| 11 | g.46726079C>A | CA380265484 | F2 | c.780C>A (p.Asn260Lys) c.750C>A (p.Asn250Lys) c.732C>A (p.Asn244Lys) n.824C>A n.815C>A | |
| 11 | g.46726079C>G | CA380265487 | F2 | c.780C>G (p.Asn260Lys) c.750C>G (p.Asn250Lys) c.732C>G (p.Asn244Lys) n.824C>G n.815C>G | |
| 11 | g.46726079C>T | CA474043775 | F2 | c.780C>T (p.Asn260=) c.750C>T (p.Asn250=) c.732C>T (p.Asn244=) n.824C>T n.815C>T | |
| 11 | g.46726080T>A | CA380265488 | F2 | c.781T>A (p.Phe261Ile) c.751T>A (p.Phe251Ile) c.733T>A (p.Phe245Ile) n.825T>A n.816T>A | |
| 11 | g.46726080T>C | CA380265489 | F2 | c.781T>C (p.Phe261Leu) c.751T>C (p.Phe251Leu) c.733T>C (p.Phe245Leu) n.825T>C n.816T>C | |
| 11 | g.46726080T>G | CA380265492 | F2 | c.781T>G (p.Phe261Val) c.751T>G (p.Phe251Val) c.733T>G (p.Phe245Val) n.825T>G n.816T>G | |
| 11 | g.46726081T>A | CA380265495 | F2 | c.782T>A (p.Phe261Tyr) c.752T>A (p.Phe251Tyr) c.734T>A (p.Phe245Tyr) n.826T>A n.817T>A | |
| 11 | g.46726081T>C | CA380265497 | F2 | c.782T>C (p.Phe261Ser) c.752T>C (p.Phe251Ser) c.734T>C (p.Phe245Ser) n.826T>C n.817T>C | |
| 11 | g.46726081T>G | CA380265506 | F2 | c.782T>G (p.Phe261Cys) c.752T>G (p.Phe251Cys) c.734T>G (p.Phe245Cys) n.826T>G n.817T>G | |
| 11 | g.46726082C>A | CA380265509 | F2 | c.783C>A (p.Phe261Leu) c.753C>A (p.Phe251Leu) c.735C>A (p.Phe245Leu) n.827C>A n.818C>A | |
| 11 | g.46726082C>G | CA380265511 | F2 | c.783C>G (p.Phe261Leu) c.753C>G (p.Phe251Leu) c.735C>G (p.Phe245Leu) n.827C>G n.818C>G | gnomAD v4 |
| 11 | g.46726082C>T | CA474043776 | F2 | c.783C>T (p.Phe261=) c.753C>T (p.Phe251=) c.735C>T (p.Phe245=) n.827C>T n.818C>T | gnomAD v4 |
| 11 | g.46726083T>A | CA380265518 | F2 | c.784T>A (p.Cys262Ser) c.754T>A (p.Cys252Ser) c.736T>A (p.Cys246Ser) n.828T>A n.819T>A | |
| 11 | g.46726083T>C | CA380265514 | F2 | c.784T>C (p.Cys262Arg) c.754T>C (p.Cys252Arg) c.736T>C (p.Cys246Arg) n.828T>C n.819T>C | |
| 11 | g.46726083T>G | CA380265517 | F2 | c.784T>G (p.Cys262Gly) c.754T>G (p.Cys252Gly) c.736T>G (p.Cys246Gly) n.828T>G n.819T>G | |
| 11 | g.46726084G>A | CA380265522 | F2 | c.785G>A (p.Cys262Tyr) c.755G>A (p.Cys252Tyr) c.737G>A (p.Cys246Tyr) n.829G>A n.820G>A | COSMIC |
| 11 | g.46726084G>C | CA380265526 | F2 | c.785G>C (p.Cys262Ser) c.755G>C (p.Cys252Ser) c.737G>C (p.Cys246Ser) n.829G>C n.820G>C | |
| 11 | g.46726084G>T | CA380265528 | F2 | c.785G>T (p.Cys262Phe) c.755G>T (p.Cys252Phe) c.737G>T (p.Cys246Phe) n.829G>T n.820G>T | |
| 11 | g.46726085C>A | CA380265530 | F2 | c.786C>A (p.Cys262Ter) c.756C>A (p.Cys252Ter) c.738C>A (p.Cys246Ter) n.830C>A n.821C>A | |
| 11 | g.46726085C= | CA1969072217 | F2 | c.786C= (p.Cys262=) c.756C= (p.Cys252=) c.738C= (p.Cys246=) n.830C= n.821C= | |
| 11 | g.46726085C>G | CA380265532 | F2 | c.786C>G (p.Cys262Trp) c.756C>G (p.Cys252Trp) c.738C>G (p.Cys246Trp) n.830C>G n.821C>G | |
| 11 | g.46726085C>T | CA474043777 | F2 | c.786C>T (p.Cys262=) c.756C>T (p.Cys252=) c.738C>T (p.Cys246=) n.830C>T n.821C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726086C>A | CA380265533 | F2 | c.787C>A (p.Arg263Ser) c.757C>A (p.Arg253Ser) c.739C>A (p.Arg247Ser) n.831C>A n.822C>A | |
| 11 | g.46726086C= | CA1969072219 | F2 | c.787C= (p.Arg263=) c.757C= (p.Arg253=) c.739C= (p.Arg247=) n.831C= n.822C= | |
| 11 | g.46726086C>G | CA380265534 | F2 | c.787C>G (p.Arg263Gly) c.757C>G (p.Arg253Gly) c.739C>G (p.Arg247Gly) n.831C>G n.822C>G | |
| 11 | g.46726086C>T | CA380265535 | F2 | c.787C>T (p.Arg263Cys) c.757C>T (p.Arg253Cys) c.739C>T (p.Arg247Cys) n.831C>T n.822C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46726087G>A | CA380265538 | F2 | c.788G>A (p.Arg263His) c.758G>A (p.Arg253His) c.740G>A (p.Arg247His) n.832G>A n.823G>A | gnomAD v4 COSMIC |
| 11 | g.46726087G>C | CA380265541 | F2 | c.788G>C (p.Arg263Pro) c.758G>C (p.Arg253Pro) c.740G>C (p.Arg247Pro) n.832G>C n.823G>C | |
| 11 | g.46726087G>T | CA380265548 | F2 | c.788G>T (p.Arg263Leu) c.758G>T (p.Arg253Leu) c.740G>T (p.Arg247Leu) n.832G>T n.823G>T | |
| 11 | g.46726088C>A | CA474043780 | F2 | c.789C>A (p.Arg263=) c.759C>A (p.Arg253=) c.741C>A (p.Arg247=) n.833C>A n.824C>A | |
| 11 | g.46726088C>G | CA474043779 | F2 | c.789C>G (p.Arg263=) c.759C>G (p.Arg253=) c.741C>G (p.Arg247=) n.833C>G n.824C>G | |
| 11 | g.46726088C>T | CA474043778 | F2 | c.789C>T (p.Arg263=) c.759C>T (p.Arg253=) c.741C>T (p.Arg247=) n.833C>T n.824C>T | ClinVar |
| 11 | g.46726089A>C | CA380265550 | F2 | c.790A>C (p.Asn264His) c.760A>C (p.Asn254His) c.742A>C (p.Asn248His) n.834A>C n.825A>C | |
| 11 | g.46726089A>G | CA380265555 | F2 | c.790A>G (p.Asn264Asp) c.760A>G (p.Asn254Asp) c.742A>G (p.Asn248Asp) n.834A>G n.825A>G | |
| 11 | g.46726089A>T | CA380265552 | F2 | c.790A>T (p.Asn264Tyr) c.760A>T (p.Asn254Tyr) c.742A>T (p.Asn248Tyr) n.834A>T n.825A>T | |
| 11 | g.46726090A= | CA1969072221 | F2 | c.791A= (p.Asn264=) c.761A= (p.Asn254=) c.743A= (p.Asn248=) n.835A= n.826A= | |
| 11 | g.46726090A>C | CA380265574 | F2 | c.791A>C (p.Asn264Thr) c.761A>C (p.Asn254Thr) c.743A>C (p.Asn248Thr) n.835A>C n.826A>C | |
| 11 | g.46726090A>G | CA5967050 | F2 | c.791A>G (p.Asn264Ser) c.761A>G (p.Asn254Ser) c.743A>G (p.Asn248Ser) n.835A>G n.826A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726090A>T | CA380265577 | F2 | c.791A>T (p.Asn264Ile) c.761A>T (p.Asn254Ile) c.743A>T (p.Asn248Ile) n.835A>T n.826A>T | |
| 11 | g.46726091C>A | CA380265579 | F2 | c.792C>A (p.Asn264Lys) c.762C>A (p.Asn254Lys) c.744C>A (p.Asn248Lys) n.836C>A n.827C>A | |
| 11 | g.46726091C>G | CA380265581 | F2 | c.792C>G (p.Asn264Lys) c.762C>G (p.Asn254Lys) c.744C>G (p.Asn248Lys) n.836C>G n.827C>G | |
| 11 | g.46726091C>T | CA474043781 | F2 | c.792C>T (p.Asn264=) c.762C>T (p.Asn254=) c.744C>T (p.Asn248=) n.836C>T n.827C>T | ClinVar |
| 11 | g.46726092C>A | CA380265593 | F2 | c.793C>A (p.Pro265Thr) c.763C>A (p.Pro255Thr) c.745C>A (p.Pro249Thr) n.837C>A n.828C>A | |
| 11 | g.46726092C= | CA1969072222 | F2 | c.793C= (p.Pro265=) c.763C= (p.Pro255=) c.745C= (p.Pro249=) n.837C= n.828C= | |
| 11 | g.46726092C>G | CA380265592 | F2 | c.793C>G (p.Pro265Ala) c.763C>G (p.Pro255Ala) c.745C>G (p.Pro249Ala) n.837C>G n.828C>G | |
| 11 | g.46726092C>T | CA221652083 | F2 | c.793C>T (p.Pro265Ser) c.763C>T (p.Pro255Ser) c.745C>T (p.Pro249Ser) n.837C>T n.828C>T | dbSNP |
| 11 | g.46726093C>A | CA380265594 | F2 | c.794C>A (p.Pro265Gln) c.764C>A (p.Pro255Gln) c.746C>A (p.Pro249Gln) n.838C>A n.829C>A | |
| 11 | g.46726093C>G | CA380265595 | F2 | c.794C>G (p.Pro265Arg) c.764C>G (p.Pro255Arg) c.746C>G (p.Pro249Arg) n.838C>G n.829C>G | |
| 11 | g.46726093C>T | CA380265596 | F2 | c.794C>T (p.Pro265Leu) c.764C>T (p.Pro255Leu) c.746C>T (p.Pro249Leu) n.838C>T n.829C>T | |
| 11 | g.46726094A>C | CA474043782 | F2 | c.795A>C (p.Pro265=) c.765A>C (p.Pro255=) c.747A>C (p.Pro249=) n.839A>C n.830A>C | |
| 11 | g.46726094A>G | CA474043784 | F2 | c.795A>G (p.Pro265=) c.765A>G (p.Pro255=) c.747A>G (p.Pro249=) n.839A>G n.830A>G | |
| 11 | g.46726094A>T | CA474043783 | F2 | c.795A>T (p.Pro265=) c.765A>T (p.Pro255=) c.747A>T (p.Pro249=) n.839A>T n.830A>T | |
| 11 | g.46726095G>A | CA380265600 | F2 | c.796G>A (p.Asp266Asn) c.766G>A (p.Asp256Asn) c.748G>A (p.Asp250Asn) n.840G>A n.831G>A | |
| 11 | g.46726095G>C | CA380265602 | F2 | c.796G>C (p.Asp266His) c.766G>C (p.Asp256His) c.748G>C (p.Asp250His) n.840G>C n.831G>C | COSMIC |
| 11 | g.46726095G>T | CA380265604 | F2 | c.796G>T (p.Asp266Tyr) c.766G>T (p.Asp256Tyr) c.748G>T (p.Asp250Tyr) n.840G>T n.831G>T | |
| 11 | g.46726096A>C | CA380265608 | F2 | c.797A>C (p.Asp266Ala) c.767A>C (p.Asp256Ala) c.749A>C (p.Asp250Ala) n.841A>C n.832A>C | |
| 11 | g.46726096A>G | CA380265606 | F2 | c.797A>G (p.Asp266Gly) c.767A>G (p.Asp256Gly) c.749A>G (p.Asp250Gly) n.841A>G n.832A>G | |
| 11 | g.46726096A>T | CA380265607 | F2 | c.797A>T (p.Asp266Val) c.767A>T (p.Asp256Val) c.749A>T (p.Asp250Val) n.841A>T n.832A>T | |
| 11 | g.46726097C>A | CA380265609 | F2 | c.798C>A (p.Asp266Glu) c.768C>A (p.Asp256Glu) c.750C>A (p.Asp250Glu) n.842C>A n.833C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726097C= | CA1969072225 | F2 | c.798C= (p.Asp266=) c.768C= (p.Asp256=) c.750C= (p.Asp250=) n.842C= n.833C= | |
| 11 | g.46726097C>G | CA380265611 | F2 | c.798C>G (p.Asp266Glu) c.768C>G (p.Asp256Glu) c.750C>G (p.Asp250Glu) n.842C>G n.833C>G | gnomAD v4 |
| 11 | g.46726097C>T | CA5967051 | F2 | c.798C>T (p.Asp266=) c.768C>T (p.Asp256=) c.750C>T (p.Asp250=) n.842C>T n.833C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726098G>A | CA5967053 | F2 | c.799G>A (p.Gly267Arg) c.769G>A (p.Gly257Arg) c.751G>A (p.Gly251Arg) n.843G>A n.834G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726098G>C | CA221652109 | F2 | c.799G>C (p.Gly267Arg) c.769G>C (p.Gly257Arg) c.751G>C (p.Gly251Arg) n.843G>C n.834G>C | dbSNP |
| 11 | g.46726098G= | CA1969072228 | F2 | c.799G= (p.Gly267=) c.769G= (p.Gly257=) c.751G= (p.Gly251=) n.843G= n.834G= | |
| 11 | g.46726098G>T | CA5967052 | F2 | c.799G>T (p.Gly267Trp) c.769G>T (p.Gly257Trp) c.751G>T (p.Gly251Trp) n.843G>T n.834G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.46726098_46726099delinsAA | CA645571956 | F2 | c.799_800delinsAA (p.Gly267Lys) c.769_770delinsAA (p.Gly257Lys) c.751_752delinsAA (p.Gly251Lys) n.843_844delinsAA n.834_835delinsAA | COSMIC |
| 11 | g.46726099G>A | CA380265620 | F2 | c.800G>A (p.Gly267Glu) c.770G>A (p.Gly257Glu) c.752G>A (p.Gly251Glu) n.844G>A n.835G>A | COSMIC |
| 11 | g.46726099G>C | CA380265622 | F2 | c.800G>C (p.Gly267Ala) c.770G>C (p.Gly257Ala) c.752G>C (p.Gly251Ala) n.844G>C n.835G>C | gnomAD v4 |
| 11 | g.46726099G>T | CA380265623 | F2 | c.800G>T (p.Gly267Val) c.770G>T (p.Gly257Val) c.752G>T (p.Gly251Val) n.844G>T n.835G>T | dbSNP |
| 11 | g.46726100G>A | CA474043785 | F2 | c.801G>A (p.Gly267=) c.771G>A (p.Gly257=) c.753G>A (p.Gly251=) n.845G>A n.836G>A | gnomAD v4 |
| 11 | g.46726100G>C | CA474043786 | F2 | c.801G>C (p.Gly267=) c.771G>C (p.Gly257=) c.753G>C (p.Gly251=) n.845G>C n.836G>C | |
| 11 | g.46726100G= | CA1969072230 | F2 | c.801G= (p.Gly267=) c.771G= (p.Gly257=) c.753G= (p.Gly251=) n.845G= n.836G= | |
| 11 | g.46726100G>T | CA5967054 | F2 | c.801G>T (p.Gly267=) c.771G>T (p.Gly257=) c.753G>T (p.Gly251=) n.845G>T n.836G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726101G>A | CA380265628 | F2 | c.802G>A (p.Asp268Asn) c.772G>A (p.Asp258Asn) c.754G>A (p.Asp252Asn) n.846G>A n.837G>A | COSMIC |
| 11 | g.46726101G>C | CA380265630 | F2 | c.802G>C (p.Asp268His) c.772G>C (p.Asp258His) c.754G>C (p.Asp252His) n.846G>C n.837G>C | |
| 11 | g.46726101G>T | CA380265634 | F2 | c.802G>T (p.Asp268Tyr) c.772G>T (p.Asp258Tyr) c.754G>T (p.Asp252Tyr) n.846G>T n.837G>T | |
| 11 | g.46726102A>C | CA380265652 | F2 | c.803A>C (p.Asp268Ala) c.773A>C (p.Asp258Ala) c.755A>C (p.Asp252Ala) n.847A>C n.838A>C | |
| 11 | g.46726102A>G | CA380265645 | F2 | c.803A>G (p.Asp268Gly) c.773A>G (p.Asp258Gly) c.755A>G (p.Asp252Gly) n.847A>G n.838A>G | |
| 11 | g.46726102A>T | CA380265647 | F2 | c.803A>T (p.Asp268Val) c.773A>T (p.Asp258Val) c.755A>T (p.Asp252Val) n.847A>T n.838A>T | |
| 11 | g.46726102_46726103insCACACTGC | CA2518763544 | F2 | c.803_804insCACACTGC (p.Glu269ThrfsTer?) c.773_774insCACACTGC (p.Glu259ThrfsTer?) c.755_756insCACACTGC (p.Glu253ThrfsTer?) n.847_848insCACACTGC n.838_839insCACACTGC | |
| 11 | g.46726103T>A | CA380265655 | F2 | c.804T>A (p.Asp268Glu) c.774T>A (p.Asp258Glu) c.756T>A (p.Asp252Glu) n.848T>A n.839T>A | |
| 11 | g.46726103T>C | CA474043787 | F2 | c.804T>C (p.Asp268=) c.774T>C (p.Asp258=) c.756T>C (p.Asp252=) n.848T>C n.839T>C | |
| 11 | g.46726103T>G | CA380265658 | F2 | c.804T>G (p.Asp268Glu) c.774T>G (p.Asp258Glu) c.756T>G (p.Asp252Glu) n.848T>G n.839T>G | |
| 11 | g.46726103_46726106delinsTGAG | CA1969072232 | F2 | c.804_807delinsTGAG (p.Asp268=) c.774_777delinsTGAG (p.Asp258=) c.756_759delinsTGAG (p.Asp252=) n.848_851delinsTGAG n.839_842delinsTGAG | |
| 11 | g.46726104G>A | CA380265664 | F2 | c.805G>A (p.Glu269Lys) c.775G>A (p.Glu259Lys) c.757G>A (p.Glu253Lys) n.849G>A n.840G>A | gnomAD v4 |
| 11 | g.46726104G>C | CA380265668 | F2 | c.805G>C (p.Glu269Gln) c.775G>C (p.Glu259Gln) c.757G>C (p.Glu253Gln) n.849G>C n.840G>C | |
| 11 | g.46726104G>T | CA380265673 | F2 | c.805G>T (p.Glu269Ter) c.775G>T (p.Glu259Ter) c.757G>T (p.Glu253Ter) n.849G>T n.840G>T | |
| 11 | g.46726108_46726110del | CA1969072235 | F2 | c.809_811del (p.Glu270del) c.779_781del (p.Glu260del) c.761_763del (p.Glu254del) n.853_855del n.844_846del | dbSNP |
| 11 | g.46726105A>C | CA380265677 | F2 | c.806A>C (p.Glu269Ala) c.776A>C (p.Glu259Ala) c.758A>C (p.Glu253Ala) n.850A>C n.841A>C | |
| 11 | g.46726105A>G | CA380265690 | F2 | c.806A>G (p.Glu269Gly) c.776A>G (p.Glu259Gly) c.758A>G (p.Glu253Gly) n.850A>G n.841A>G | |
| 11 | g.46726105A>T | CA380265697 | F2 | c.806A>T (p.Glu269Val) c.776A>T (p.Glu259Val) c.758A>T (p.Glu253Val) n.850A>T n.841A>T | |
| 11 | g.46726106G>A | CA474043788 | F2 | c.807G>A (p.Glu269=) c.777G>A (p.Glu259=) c.759G>A (p.Glu253=) n.851G>A n.842G>A | |
| 11 | g.46726106G>C | CA380265700 | F2 | c.807G>C (p.Glu269Asp) c.777G>C (p.Glu259Asp) c.759G>C (p.Glu253Asp) n.851G>C n.842G>C | |
| 11 | g.46726106G>T | CA380265701 | F2 | c.807G>T (p.Glu269Asp) c.777G>T (p.Glu259Asp) c.759G>T (p.Glu253Asp) n.851G>T n.842G>T | |
| 11 | g.46726107G>A | CA380265704 | F2 | c.808G>A (p.Glu270Lys) c.778G>A (p.Glu260Lys) c.760G>A (p.Glu254Lys) n.852G>A n.843G>A | COSMIC |
| 11 | g.46726107G>C | CA380265709 | F2 | c.808G>C (p.Glu270Gln) c.778G>C (p.Glu260Gln) c.760G>C (p.Glu254Gln) n.852G>C n.843G>C | |
| 11 | g.46726107G>T | CA380265715 | F2 | c.808G>T (p.Glu270Ter) c.778G>T (p.Glu260Ter) c.760G>T (p.Glu254Ter) n.852G>T n.843G>T | |
| 11 | g.46726108A>C | CA380265744 | F2 | c.809A>C (p.Glu270Ala) c.779A>C (p.Glu260Ala) c.761A>C (p.Glu254Ala) n.853A>C n.844A>C | |
| 11 | g.46726108A>G | CA380265730 | F2 | c.809A>G (p.Glu270Gly) c.779A>G (p.Glu260Gly) c.761A>G (p.Glu254Gly) n.853A>G n.844A>G | |
| 11 | g.46726108A>T | CA380265740 | F2 | c.809A>T (p.Glu270Val) c.779A>T (p.Glu260Val) c.761A>T (p.Glu254Val) n.853A>T n.844A>T | |
| 11 | g.46726109G>A | CA474043789 | F2 | c.810G>A (p.Glu270=) c.780G>A (p.Glu260=) c.762G>A (p.Glu254=) n.854G>A n.845G>A | |
| 11 | g.46726109G>C | CA380265749 | F2 | c.810G>C (p.Glu270Asp) c.780G>C (p.Glu260Asp) c.762G>C (p.Glu254Asp) n.854G>C n.845G>C | |
| 11 | g.46726109G>T | CA380265751 | F2 | c.810G>T (p.Glu270Asp) c.780G>T (p.Glu260Asp) c.762G>T (p.Glu254Asp) n.854G>T n.845G>T | |
| 11 | g.46726110G>A | CA380265755 | F2 | c.811G>A (p.Gly271Ser) c.781G>A (p.Gly261Ser) c.763G>A (p.Gly255Ser) n.855G>A n.846G>A | |
| 11 | g.46726110G>C | CA380265758 | F2 | c.811G>C (p.Gly271Arg) c.781G>C (p.Gly261Arg) c.763G>C (p.Gly255Arg) n.855G>C n.846G>C | |
| 11 | g.46726110G>T | CA380265761 | F2 | c.811G>T (p.Gly271Cys) c.781G>T (p.Gly261Cys) c.763G>T (p.Gly255Cys) n.855G>T n.846G>T | |
| 11 | g.46726111G>A | CA5967055 | F2 | c.812G>A (p.Gly271Asp) c.782G>A (p.Gly261Asp) c.764G>A (p.Gly255Asp) n.856G>A n.847G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726111G>C | CA380265767 | F2 | c.812G>C (p.Gly271Ala) c.782G>C (p.Gly261Ala) c.764G>C (p.Gly255Ala) n.856G>C n.847G>C | |
| 11 | g.46726111G= | CA1969072239 | F2 | c.812G= (p.Gly271=) c.782G= (p.Gly261=) c.764G= (p.Gly255=) n.856G= n.847G= | |
| 11 | g.46726111G>T | CA380265770 | F2 | c.812G>T (p.Gly271Val) c.782G>T (p.Gly261Val) c.764G>T (p.Gly255Val) n.856G>T n.847G>T | |
| 11 | g.46726112C>A | CA474043790 | F2 | c.813C>A (p.Gly271=) c.783C>A (p.Gly261=) c.765C>A (p.Gly255=) n.857C>A n.848C>A | gnomAD v4 |
| 11 | g.46726112C= | CA1969072242 | F2 | c.813C= (p.Gly271=) c.783C= (p.Gly261=) c.765C= (p.Gly255=) n.857C= n.848C= | |
| 11 | g.46726112C>G | CA474043791 | F2 | c.813C>G (p.Gly271=) c.783C>G (p.Gly261=) c.765C>G (p.Gly255=) n.857C>G n.848C>G | ClinVar |
| 11 | g.46726112C>T | CA5967056 | F2 | c.813C>T (p.Gly271=) c.783C>T (p.Gly261=) c.765C>T (p.Gly255=) n.857C>T n.848C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726113G>A | CA5967057 | F2 | c.814G>A (p.Val272Met) c.784G>A (p.Val262Met) c.766G>A (p.Val256Met) n.858G>A n.849G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726113G>C | CA380265778 | F2 | c.814G>C (p.Val272Leu) c.784G>C (p.Val262Leu) c.766G>C (p.Val256Leu) n.858G>C n.849G>C | |
| 11 | g.46726113G= | CA1969072245 | F2 | c.814G= (p.Val272=) c.784G= (p.Val262=) c.766G= (p.Val256=) n.858G= n.849G= | |
| 11 | g.46726113G>T | CA380265780 | F2 | c.814G>T (p.Val272Leu) c.784G>T (p.Val262Leu) c.766G>T (p.Val256Leu) n.858G>T n.849G>T | |
| 11 | g.46726114T>A | CA380265786 | F2 | c.815T>A (p.Val272Glu) c.785T>A (p.Val262Glu) c.767T>A (p.Val256Glu) n.859T>A n.850T>A | |
| 11 | g.46726114T>C | CA221652150 | F2 | c.815T>C (p.Val272Ala) c.785T>C (p.Val262Ala) c.767T>C (p.Val256Ala) n.859T>C n.850T>C | dbSNP |
| 11 | g.46726114T>G | CA380265790 | F2 | c.815T>G (p.Val272Gly) c.785T>G (p.Val262Gly) c.767T>G (p.Val256Gly) n.859T>G n.850T>G | |
| 11 | g.46726114T= | CA1969072250 | F2 | c.815T= (p.Val272=) c.785T= (p.Val262=) c.767T= (p.Val256=) n.859T= n.850T= | |
| 11 | g.46726115G>A | CA474043793 | F2 | c.816G>A (p.Val272=) c.786G>A (p.Val262=) c.768G>A (p.Val256=) n.860G>A n.851G>A | dbSNP |
| 11 | g.46726115G>C | CA474043794 | F2 | c.816G>C (p.Val272=) c.786G>C (p.Val262=) c.768G>C (p.Val256=) n.860G>C n.851G>C | |
| 11 | g.46726115G= | CA1969072252 | F2 | c.816G= (p.Val272=) c.786G= (p.Val262=) c.768G= (p.Val256=) n.860G= n.851G= | |
| 11 | g.46726115G>T | CA474043792 | F2 | c.816G>T (p.Val272=) c.786G>T (p.Val262=) c.768G>T (p.Val256=) n.860G>T n.851G>T | gnomAD v4 |
| 11 | g.46726116T>A | CA380265796 | F2 | c.817T>A (p.Trp273Arg) c.787T>A (p.Trp263Arg) c.769T>A (p.Trp257Arg) n.861T>A n.852T>A | |
| 11 | g.46726116T>C | CA380265802 | F2 | c.817T>C (p.Trp273Arg) c.787T>C (p.Trp263Arg) c.769T>C (p.Trp257Arg) n.861T>C n.852T>C | |
| 11 | g.46726116T>G | CA380265798 | F2 | c.817T>G (p.Trp273Gly) c.787T>G (p.Trp263Gly) c.769T>G (p.Trp257Gly) n.861T>G n.852T>G | |
| 11 | g.46726117G>A | CA380265804 | F2 | c.818G>A (p.Trp273Ter) c.788G>A (p.Trp263Ter) c.770G>A (p.Trp257Ter) n.862G>A n.853G>A | |
| 11 | g.46726117G>C | CA380265807 | F2 | c.818G>C (p.Trp273Ser) c.788G>C (p.Trp263Ser) c.770G>C (p.Trp257Ser) n.862G>C n.853G>C | |
| 11 | g.46726117G>T | CA380265810 | F2 | c.818G>T (p.Trp273Leu) c.788G>T (p.Trp263Leu) c.770G>T (p.Trp257Leu) n.862G>T n.853G>T | |
| 11 | g.46726118G>A | CA380265813 | F2 | c.819G>A (p.Trp273Ter) c.789G>A (p.Trp263Ter) c.771G>A (p.Trp257Ter) n.863G>A n.854G>A | |
| 11 | g.46726118G>C | CA380265817 | F2 | c.819G>C (p.Trp273Cys) c.789G>C (p.Trp263Cys) c.771G>C (p.Trp257Cys) n.863G>C n.854G>C | |
| 11 | g.46726118G>T | CA380265827 | F2 | c.819G>T (p.Trp273Cys) c.789G>T (p.Trp263Cys) c.771G>T (p.Trp257Cys) n.863G>T n.854G>T | |
| 11 | g.46726119T>A | CA380265831 | F2 | c.820T>A (p.Cys274Ser) c.790T>A (p.Cys264Ser) c.772T>A (p.Cys258Ser) n.864T>A n.855T>A | |
| 11 | g.46726119T>C | CA380265839 | F2 | c.820T>C (p.Cys274Arg) c.790T>C (p.Cys264Arg) c.772T>C (p.Cys258Arg) n.864T>C n.855T>C | |
| 11 | g.46726119T>G | CA380265843 | F2 | c.820T>G (p.Cys274Gly) c.790T>G (p.Cys264Gly) c.772T>G (p.Cys258Gly) n.864T>G n.855T>G | |
| 11 | g.46726120G>A | CA380265847 | F2 | c.821G>A (p.Cys274Tyr) c.791G>A (p.Cys264Tyr) c.773G>A (p.Cys258Tyr) n.865G>A n.856G>A | gnomAD v4 |
| 11 | g.46726120G>C | CA380265848 | F2 | c.821G>C (p.Cys274Ser) c.791G>C (p.Cys264Ser) c.773G>C (p.Cys258Ser) n.865G>C n.856G>C | |
| 11 | g.46726120G>T | CA380265851 | F2 | c.821G>T (p.Cys274Phe) c.791G>T (p.Cys264Phe) c.773G>T (p.Cys258Phe) n.865G>T n.856G>T | |
| 11 | g.46726121C>A | CA380265858 | F2 | c.822C>A (p.Cys274Ter) c.792C>A (p.Cys264Ter) c.774C>A (p.Cys258Ter) n.866C>A n.857C>A | |
| 11 | g.46726121C>G | CA380265856 | F2 | c.822C>G (p.Cys274Trp) c.792C>G (p.Cys264Trp) c.774C>G (p.Cys258Trp) n.866C>G n.857C>G | |
| 11 | g.46726121C>T | CA474043795 | F2 | c.822C>T (p.Cys274=) c.792C>T (p.Cys264=) c.774C>T (p.Cys258=) n.866C>T n.857C>T | COSMIC |
| 11 | g.46726122T>A | CA380265860 | F2 | c.823T>A (p.Tyr275Asn) c.793T>A (p.Tyr265Asn) c.775T>A (p.Tyr259Asn) n.867T>A n.858T>A | |
| 11 | g.46726122T>C | CA380265861 | F2 | c.823T>C (p.Tyr275His) c.793T>C (p.Tyr265His) c.775T>C (p.Tyr259His) n.867T>C n.858T>C | |
| 11 | g.46726122T>G | CA380265863 | F2 | c.823T>G (p.Tyr275Asp) c.793T>G (p.Tyr265Asp) c.775T>G (p.Tyr259Asp) n.867T>G n.858T>G | |
| 11 | g.46726123A>C | CA380265867 | F2 | c.824A>C (p.Tyr275Ser) c.794A>C (p.Tyr265Ser) c.776A>C (p.Tyr259Ser) n.868A>C n.859A>C | |
| 11 | g.46726123A>G | CA380265877 | F2 | c.824A>G (p.Tyr275Cys) c.794A>G (p.Tyr265Cys) c.776A>G (p.Tyr259Cys) n.868A>G n.859A>G | |
| 11 | g.46726123A>T | CA380265881 | F2 | c.824A>T (p.Tyr275Phe) c.794A>T (p.Tyr265Phe) c.776A>T (p.Tyr259Phe) n.868A>T n.859A>T | |
| 11 | g.46726124T>A | CA380265886 | F2 | c.825T>A (p.Tyr275Ter) c.795T>A (p.Tyr265Ter) c.777T>A (p.Tyr259Ter) n.869T>A n.860T>A | |
| 11 | g.46726124T>C | CA474043248 | F2 | c.825T>C (p.Tyr275=) c.795T>C (p.Tyr265=) c.777T>C (p.Tyr259=) n.869T>C n.860T>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726124T>G | CA380265889 | F2 | c.825T>G (p.Tyr275Ter) c.795T>G (p.Tyr265Ter) c.777T>G (p.Tyr259Ter) n.869T>G n.860T>G | |
| 11 | g.46726124T= | CA1969072253 | F2 | c.825T= (p.Tyr275=) c.795T= (p.Tyr265=) c.777T= (p.Tyr259=) n.869T= n.860T= | |
| 11 | g.46726125G>A | CA380265892 | F2 | c.826G>A (p.Val276Met) c.796G>A (p.Val266Met) c.778G>A (p.Val260Met) n.870G>A n.861G>A | gnomAD v4 |
| 11 | g.46726125G>C | CA380265896 | F2 | c.826G>C (p.Val276Leu) c.796G>C (p.Val266Leu) c.778G>C (p.Val260Leu) n.870G>C n.861G>C | |
| 11 | g.46726125G>T | CA380265897 | F2 | c.826G>T (p.Val276Leu) c.796G>T (p.Val266Leu) c.778G>T (p.Val260Leu) n.870G>T n.861G>T | |
| 11 | g.46726126T>A | CA380265915 | F2 | c.827T>A (p.Val276Glu) c.797T>A (p.Val266Glu) c.779T>A (p.Val260Glu) n.871T>A n.862T>A | |
| 11 | g.46726126T>C | CA380265912 | F2 | c.827T>C (p.Val276Ala) c.797T>C (p.Val266Ala) c.779T>C (p.Val260Ala) n.871T>C n.862T>C | |
| 11 | g.46726126T>G | CA380265900 | F2 | c.827T>G (p.Val276Gly) c.797T>G (p.Val266Gly) c.779T>G (p.Val260Gly) n.871T>G n.862T>G | |
| 11 | g.46726127G>A | CA474043258 | F2 | c.828G>A (p.Val276=) c.798G>A (p.Val266=) c.780G>A (p.Val260=) n.872G>A n.863G>A | |
| 11 | g.46726127G>C | CA474043259 | F2 | c.828G>C (p.Val276=) c.798G>C (p.Val266=) c.780G>C (p.Val260=) n.872G>C n.863G>C | |
| 11 | g.46726127G= | CA1969072254 | F2 | c.828G= (p.Val276=) c.798G= (p.Val266=) c.780G= (p.Val260=) n.872G= n.863G= | |
| 11 | g.46726127G>T | CA474043265 | F2 | c.828G>T (p.Val276=) c.798G>T (p.Val266=) c.780G>T (p.Val260=) n.872G>T n.863G>T | dbSNP |
| 11 | g.46726128G>A | CA380265918 | F2 | c.829G>A (p.Ala277Thr) c.799G>A (p.Ala267Thr) c.781G>A (p.Ala261Thr) n.873G>A n.864G>A | gnomAD v4 |
| 11 | g.46726128G>C | CA380265925 | F2 | c.829G>C (p.Ala277Pro) c.799G>C (p.Ala267Pro) c.781G>C (p.Ala261Pro) n.873G>C n.864G>C | dbSNP COSMIC |
| 11 | g.46726128G= | CA1969072255 | F2 | c.829G= (p.Ala277=) c.799G= (p.Ala267=) c.781G= (p.Ala261=) n.873G= n.864G= | |
| 11 | g.46726128G>T | CA380265928 | F2 | c.829G>T (p.Ala277Ser) c.799G>T (p.Ala267Ser) c.781G>T (p.Ala261Ser) n.873G>T n.864G>T | dbSNP COSMIC |
| 11 | g.46726129C>A | CA380265931 | F2 | c.830C>A (p.Ala277Asp) c.800C>A (p.Ala267Asp) c.782C>A (p.Ala261Asp) n.874C>A n.865C>A | |
| 11 | g.46726129C>G | CA380265934 | F2 | c.830C>G (p.Ala277Gly) c.800C>G (p.Ala267Gly) c.782C>G (p.Ala261Gly) n.874C>G n.865C>G | |
| 11 | g.46726129C>T | CA380265943 | F2 | c.830C>T (p.Ala277Val) c.800C>T (p.Ala267Val) c.782C>T (p.Ala261Val) n.874C>T n.865C>T | gnomAD v4 |
| 11 | g.46726130C>A | CA474043275 | F2 | c.831C>A (p.Ala277=) c.801C>A (p.Ala267=) c.783C>A (p.Ala261=) n.875C>A n.866C>A | |
| 11 | g.46726130C= | CA1969072256 | F2 | c.831C= (p.Ala277=) c.801C= (p.Ala267=) c.783C= (p.Ala261=) n.875C= n.866C= | |
| 11 | g.46726130C>G | CA474043278 | F2 | c.831C>G (p.Ala277=) c.801C>G (p.Ala267=) c.783C>G (p.Ala261=) n.875C>G n.866C>G | dbSNP |
| 11 | g.46726130C>T | CA5967058 | F2 | c.831C>T (p.Ala277=) c.801C>T (p.Ala267=) c.783C>T (p.Ala261=) n.875C>T n.866C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.46726131G>A | CA5967059 | F2 | c.832G>A (p.Gly278Arg) c.802G>A (p.Gly268Arg) c.784G>A (p.Gly262Arg) n.876G>A n.867G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.46726131G>C | CA380265952 | F2 | c.832G>C (p.Gly278Arg) c.802G>C (p.Gly268Arg) c.784G>C (p.Gly262Arg) n.876G>C n.867G>C | COSMIC |
| 11 | g.46726131G= | CA1969072261 | F2 | c.832G= (p.Gly278=) c.802G= (p.Gly268=) c.784G= (p.Gly262=) n.876G= n.867G= | |
| 11 | g.46726131G>T | CA380265955 | F2 | c.832G>T (p.Gly278Trp) c.802G>T (p.Gly268Trp) c.784G>T (p.Gly262Trp) n.876G>T n.867G>T | |
| 11 | g.46726132G>A | CA380265959 | F2 | c.833G>A (p.Gly278Glu) c.803G>A (p.Gly268Glu) c.785G>A (p.Gly262Glu) n.877G>A n.868G>A | dbSNP gnomAD v4 COSMIC |
| 11 | g.46726132G>C | CA380265963 | F2 | c.833G>C (p.Gly278Ala) c.803G>C (p.Gly268Ala) c.785G>C (p.Gly262Ala) n.877G>C n.868G>C | |
| 11 | g.46726132G= | CA1969072263 | F2 | c.833G= (p.Gly278=) c.803G= (p.Gly268=) c.785G= (p.Gly262=) n.877G= n.868G= | |
| 11 | g.46726132G>T | CA380265966 | F2 | c.833G>T (p.Gly278Val) c.803G>T (p.Gly268Val) c.785G>T (p.Gly262Val) n.877G>T n.868G>T | |
| 11 | g.46726133G>A | CA474043287 | F2 | c.834G>A (p.Gly278=) c.804G>A (p.Gly268=) c.786G>A (p.Gly262=) n.878G>A n.869G>A | |
| 11 | g.46726133G>C | CA474043288 | F2 | c.834G>C (p.Gly278=) c.804G>C (p.Gly268=) c.786G>C (p.Gly262=) n.878G>C n.869G>C | |
| 11 | g.46726133G>T | CA474043289 | F2 | c.834G>T (p.Gly278=) c.804G>T (p.Gly268=) c.786G>T (p.Gly262=) n.878G>T n.869G>T | |
| 11 | g.46726134A= | CA1969072265 | F2 | c.835A= (p.Lys279=) c.805A= (p.Lys269=) c.787A= (p.Lys263=) n.879A= n.870A= | |
| 11 | g.46726134A>C | CA380265970 | F2 | c.835A>C (p.Lys279Gln) c.805A>C (p.Lys269Gln) c.787A>C (p.Lys263Gln) n.879A>C n.870A>C | dbSNP |
| 11 | g.46726134A>G | CA380265976 | F2 | c.835A>G (p.Lys279Glu) c.805A>G (p.Lys269Glu) c.787A>G (p.Lys263Glu) n.879A>G n.870A>G | |
| 11 | g.46726134A>T | CA380265972 | F2 | c.835A>T (p.Lys279Ter) c.805A>T (p.Lys269Ter) c.787A>T (p.Lys263Ter) n.879A>T n.870A>T | |
| 11 | g.46726135A>C | CA380265988 | F2 | c.836A>C (p.Lys279Thr) c.806A>C (p.Lys269Thr) c.788A>C (p.Lys263Thr) n.880A>C n.871A>C | gnomAD v4 |
| 11 | g.46726135A>G | CA380265991 | F2 | c.836A>G (p.Lys279Arg) c.806A>G (p.Lys269Arg) c.788A>G (p.Lys263Arg) n.880A>G n.871A>G | |
| 11 | g.46726135A>T | CA380265995 | F2 | c.836A>T (p.Lys279Met) c.806A>T (p.Lys269Met) c.788A>T (p.Lys263Met) n.880A>T n.871A>T | |
| 11 | g.46726136G>A | CA474043299 | F2 | c.837G>A (p.Lys279=) c.807G>A (p.Lys269=) c.789G>A (p.Lys263=) n.881G>A n.872G>A | |
| 11 | g.46726136G>C | CA380265999 | F2 | c.837G>C (p.Lys279Asn) c.807G>C (p.Lys269Asn) c.789G>C (p.Lys263Asn) n.881G>C n.872G>C | |
| 11 | g.46726136G>T | CA380266001 | F2 | c.837G>T (p.Lys279Asn) c.807G>T (p.Lys269Asn) c.789G>T (p.Lys263Asn) n.881G>T n.872G>T |