Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206767035dup | CA2754013356 | FASTKD2 | c.342dup (p.Asp115Ter) n.400dup | |
2 | g.206767035del | CA539388777 | FASTKD2 | c.342del (p.Phe114LeufsTer17) c.342del (p.Phe114LeufsTer?) n.400del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767035T>A | CA350069951 | FASTKD2 | c.342T>A (p.Phe114Leu) n.400T>A | |
2 | g.206767035T>C | CA431114974 | FASTKD2 | c.342T>C (p.Phe114=) n.400T>C | |
2 | g.206767035T>G | CA350069954 | FASTKD2 | c.342T>G (p.Phe114Leu) n.400T>G | |
2 | g.206767036G>A | CA350069960 | FASTKD2 | c.343G>A (p.Asp115Asn) n.401G>A | gnomAD v4 |
2 | g.206767036G>C | CA350069964 | FASTKD2 | c.343G>C (p.Asp115His) n.401G>C | gnomAD v4 |
2 | g.206767036G>T | CA350069957 | FASTKD2 | c.343G>T (p.Asp115Tyr) n.401G>T | gnomAD v4 |
2 | g.206767037A>C | CA350069972 | FASTKD2 | c.344A>C (p.Asp115Ala) n.402A>C | |
2 | g.206767037A>G | CA350069977 | FASTKD2 | c.344A>G (p.Asp115Gly) n.402A>G | gnomAD v4 |
2 | g.206767037A>T | CA350069980 | FASTKD2 | c.344A>T (p.Asp115Val) n.402A>T | |
2 | g.206767038C>A | CA350069983 | FASTKD2 | c.345C>A (p.Asp115Glu) n.403C>A | |
2 | g.206767038C>G | CA350069988 | FASTKD2 | c.345C>G (p.Asp115Glu) n.403C>G | |
2 | g.206767038C>T | CA431114981 | FASTKD2 | c.345C>T (p.Asp115=) n.403C>T | |
2 | g.206767039T>A | CA350070005 | FASTKD2 | c.346T>A (p.Ser116Thr) n.404T>A | |
2 | g.206767039T>C | CA350070000 | FASTKD2 | c.346T>C (p.Ser116Pro) n.404T>C | gnomAD v4 |
2 | g.206767039T>G | CA350069993 | FASTKD2 | c.346T>G (p.Ser116Ala) n.404T>G | |
2 | g.206767040C>A | CA350070009 | FASTKD2 | c.347C>A (p.Ser116Ter) n.405C>A | |
2 | g.206767040C>G | CA350070012 | FASTKD2 | c.347C>G (p.Ser116Ter) n.405C>G | gnomAD v4 |
2 | g.206767040C>T | CA350070013 | FASTKD2 | c.347C>T (p.Ser116Leu) n.405C>T | gnomAD v4 |
2 | g.206767041A= | CA1323320454 | FASTKD2 | c.348A= (p.Ser116=) n.406A= | |
2 | g.206767041A>C | CA431114982 | FASTKD2 | c.348A>C (p.Ser116=) n.406A>C | |
2 | g.206767041A>G | CA63709927 | FASTKD2 | c.348A>G (p.Ser116=) n.406A>G | dbSNP gnomAD v4 |
2 | g.206767041A>T | CA431114983 | FASTKD2 | c.348A>T (p.Ser116=) n.406A>T | |
2 | g.206767042A= | CA1323320455 | FASTKD2 | c.349A= (p.Lys117=) n.407A= | |
2 | g.206767042A>C | CA350070014 | FASTKD2 | c.349A>C (p.Lys117Gln) n.407A>C | |
2 | g.206767042A>G | CA2074870 | FASTKD2 | c.349A>G (p.Lys117Glu) n.407A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767042A>T | CA350070016 | FASTKD2 | c.349A>T (p.Lys117Ter) n.407A>T | |
2 | g.206767043A>C | CA350070027 | FASTKD2 | c.350A>C (p.Lys117Thr) n.408A>C | |
2 | g.206767043A>G | CA350070019 | FASTKD2 | c.350A>G (p.Lys117Arg) n.408A>G | gnomAD v4 |
2 | g.206767043A>T | CA350070022 | FASTKD2 | c.350A>T (p.Lys117Met) n.408A>T | gnomAD v4 |
2 | g.206767044G>A | CA431114987 | FASTKD2 | c.351G>A (p.Lys117=) n.409G>A | |
2 | g.206767044G>C | CA350070035 | FASTKD2 | c.351G>C (p.Lys117Asn) n.409G>C | |
2 | g.206767044G>T | CA350070039 | FASTKD2 | c.351G>T (p.Lys117Asn) n.409G>T | |
2 | g.206767045C>A | CA350070045 | FASTKD2 | c.352C>A (p.Gln118Lys) n.410C>A | |
2 | g.206767045C>G | CA350070047 | FASTKD2 | c.352C>G (p.Gln118Glu) n.410C>G | |
2 | g.206767045C>T | CA350070057 | FASTKD2 | c.352C>T (p.Gln118Ter) n.410C>T | gnomAD v4 |
2 | g.206767046A>C | CA350070066 | FASTKD2 | c.353A>C (p.Gln118Pro) n.411A>C | |
2 | g.206767046A>G | CA350070067 | FASTKD2 | c.353A>G (p.Gln118Arg) n.411A>G | |
2 | g.206767046A>T | CA350070071 | FASTKD2 | c.353A>T (p.Gln118Leu) n.411A>T | |
2 | g.206767047G>A | CA431114991 | FASTKD2 | c.354G>A (p.Gln118=) n.412G>A | |
2 | g.206767047G>C | CA350070077 | FASTKD2 | c.354G>C (p.Gln118His) n.412G>C | gnomAD v4 |
2 | g.206767047G>T | CA350070087 | FASTKD2 | c.354G>T (p.Gln118His) n.412G>T | gnomAD v4 |
2 | g.206767048T>A | CA350070089 | FASTKD2 | c.355T>A (p.Ser119Thr) n.413T>A | |
2 | g.206767048T>C | CA350070090 | FASTKD2 | c.355T>C (p.Ser119Pro) n.413T>C | gnomAD v4 |
2 | g.206767048T>G | CA350070092 | FASTKD2 | c.355T>G (p.Ser119Ala) n.413T>G | |
2 | g.206767051_206767052dup | CA2662829147 | FASTKD2 | c.358_359dup (p.Val121LeufsTer11) c.358_359dup (p.Val121LeufsTer?) n.416_417dup | gnomAD v4 |
2 | g.206767049C>A | CA350070095 | FASTKD2 | c.356C>A (p.Ser119Tyr) n.414C>A | |
2 | g.206767049C= | CA1323320456 | FASTKD2 | c.356C= (p.Ser119=) n.414C= | |
2 | g.206767049C>G | CA350070100 | FASTKD2 | c.356C>G (p.Ser119Cys) n.414C>G | COSMIC |
2 | g.206767049C>T | CA2074871 | FASTKD2 | c.356C>T (p.Ser119Phe) n.414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767050T>A | CA431114997 | FASTKD2 | c.357T>A (p.Ser119=) n.415T>A | |
2 | g.206767050T>C | CA431115001 | FASTKD2 | c.357T>C (p.Ser119=) n.415T>C | |
2 | g.206767050T>G | CA431115003 | FASTKD2 | c.357T>G (p.Ser119=) n.415T>G | |
2 | g.206767051C>A | CA350070101 | FASTKD2 | c.358C>A (p.Leu120Ile) n.416C>A | |
2 | g.206767051C>G | CA350070102 | FASTKD2 | c.358C>G (p.Leu120Val) n.416C>G | |
2 | g.206767051C>T | CA350070105 | FASTKD2 | c.358C>T (p.Leu120Phe) n.416C>T | gnomAD v4 COSMIC |
2 | g.206767052T>A | CA350070106 | FASTKD2 | c.359T>A (p.Leu120His) n.417T>A | |
2 | g.206767052T>C | CA350070109 | FASTKD2 | c.359T>C (p.Leu120Pro) n.417T>C | |
2 | g.206767052T>G | CA350070114 | FASTKD2 | c.359T>G (p.Leu120Arg) n.417T>G | |
2 | g.206767053T>A | CA431115005 | FASTKD2 | c.360T>A (p.Leu120=) n.418T>A | |
2 | g.206767053T>C | CA431115006 | FASTKD2 | c.360T>C (p.Leu120=) n.418T>C | |
2 | g.206767053T>G | CA431115008 | FASTKD2 | c.360T>G (p.Leu120=) n.418T>G | |
2 | g.206767054G>A | CA350070116 | FASTKD2 | c.361G>A (p.Val121Ile) n.419G>A | |
2 | g.206767054G>C | CA350070120 | FASTKD2 | c.361G>C (p.Val121Leu) n.419G>C | |
2 | g.206767054G>T | CA350070122 | FASTKD2 | c.361G>T (p.Val121Phe) n.419G>T | gnomAD v4 |
2 | g.206767055T>A | CA350070129 | FASTKD2 | c.362T>A (p.Val121Asp) n.420T>A | |
2 | g.206767055T>C | CA350070136 | FASTKD2 | c.362T>C (p.Val121Ala) n.420T>C | |
2 | g.206767055T>G | CA350070138 | FASTKD2 | c.362T>G (p.Val121Gly) n.420T>G | |
2 | g.206767056C>A | CA431115015 | FASTKD2 | c.363C>A (p.Val121=) n.421C>A | |
2 | g.206767056C>G | CA431115018 | FASTKD2 | c.363C>G (p.Val121=) n.421C>G | |
2 | g.206767056C>T | CA431115016 | FASTKD2 | c.363C>T (p.Val121=) n.421C>T | gnomAD v4 |
2 | g.206767057C>A | CA350070152 | FASTKD2 | c.364C>A (p.Pro122Thr) n.422C>A | |
2 | g.206767057C>G | CA350070148 | FASTKD2 | c.364C>G (p.Pro122Ala) n.422C>G | gnomAD v4 |
2 | g.206767057C>T | CA350070142 | FASTKD2 | c.364C>T (p.Pro122Ser) n.422C>T | |
2 | g.206767058C>A | CA350070156 | FASTKD2 | c.365C>A (p.Pro122His) n.423C>A | |
2 | g.206767058C= | CA1323320457 | FASTKD2 | c.365C= (p.Pro122=) n.423C= | |
2 | g.206767058C>G | CA350070157 | FASTKD2 | c.365C>G (p.Pro122Arg) n.423C>G | |
2 | g.206767058C>T | CA350070158 | FASTKD2 | c.365C>T (p.Pro122Leu) n.423C>T | dbSNP gnomAD v4 |
2 | g.206767059del | CA2662829148 | FASTKD2 | c.366del (p.Val123LeufsTer8) c.366del (p.Val123LeufsTer?) n.424del | gnomAD v4 |
2 | g.206767059T>A | CA431115026 | FASTKD2 | c.366T>A (p.Pro122=) n.424T>A | |
2 | g.206767059T>C | CA431115027 | FASTKD2 | c.366T>C (p.Pro122=) n.424T>C | |
2 | g.206767059T>G | CA431115028 | FASTKD2 | c.366T>G (p.Pro122=) n.424T>G | |
2 | g.206767060G>A | CA350070159 | FASTKD2 | c.367G>A (p.Val123Ile) n.425G>A | gnomAD v4 |
2 | g.206767060G>C | CA350070160 | FASTKD2 | c.367G>C (p.Val123Leu) n.425G>C | |
2 | g.206767060G= | CA1323320458 | FASTKD2 | c.367G= (p.Val123=) n.425G= | |
2 | g.206767060G>T | CA2074872 | FASTKD2 | c.367G>T (p.Val123Phe) n.425G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767061T>A | CA350070167 | FASTKD2 | c.368T>A (p.Val123Asp) n.426T>A | |
2 | g.206767061T>C | CA350070171 | FASTKD2 | c.368T>C (p.Val123Ala) n.426T>C | gnomAD v4 |
2 | g.206767061T>G | CA350070173 | FASTKD2 | c.368T>G (p.Val123Gly) n.426T>G | |
2 | g.206767062T>A | CA431115033 | FASTKD2 | c.369T>A (p.Val123=) n.427T>A | |
2 | g.206767062T>C | CA431115037 | FASTKD2 | c.369T>C (p.Val123=) n.427T>C | |
2 | g.206767062T>G | CA431115038 | FASTKD2 | c.369T>G (p.Val123=) n.427T>G | |
2 | g.206767063G>A | CA350070176 | FASTKD2 | c.370G>A (p.Asp124Asn) n.428G>A | |
2 | g.206767063G>C | CA350070182 | FASTKD2 | c.370G>C (p.Asp124His) n.428G>C | gnomAD v4 |
2 | g.206767063G>T | CA350070190 | FASTKD2 | c.370G>T (p.Asp124Tyr) n.428G>T | |
2 | g.206767064A>C | CA350070195 | FASTKD2 | c.371A>C (p.Asp124Ala) n.429A>C | |
2 | g.206767064A>G | CA350070204 | FASTKD2 | c.371A>G (p.Asp124Gly) n.429A>G | |
2 | g.206767064A>T | CA350070198 | FASTKD2 | c.371A>T (p.Asp124Val) n.429A>T | |
2 | g.206767065T>A | CA350070213 | FASTKD2 | c.372T>A (p.Asp124Glu) n.430T>A | |
2 | g.206767065T>C | CA431115044 | FASTKD2 | c.372T>C (p.Asp124=) n.430T>C | |
2 | g.206767065T>G | CA350070214 | FASTKD2 | c.372T>G (p.Asp124Glu) n.430T>G | |
2 | g.206767066A>C | CA350070217 | FASTKD2 | c.373A>C (p.Lys125Gln) n.431A>C | |
2 | g.206767066A>G | CA350070235 | FASTKD2 | c.373A>G (p.Lys125Glu) n.431A>G | |
2 | g.206767066A>T | CA350070232 | FASTKD2 | c.373A>T (p.Lys125Ter) n.431A>T | |
2 | g.206767067A>C | CA350070240 | FASTKD2 | c.374A>C (p.Lys125Thr) n.432A>C | |
2 | g.206767067A>G | CA350070242 | FASTKD2 | c.374A>G (p.Lys125Arg) n.432A>G | |
2 | g.206767067A>T | CA350070244 | FASTKD2 | c.374A>T (p.Lys125Ile) n.432A>T | |
2 | g.206767068A>C | CA350070247 | FASTKD2 | c.375A>C (p.Lys125Asn) n.433A>C | |
2 | g.206767068A>G | CA431115051 | FASTKD2 | c.375A>G (p.Lys125=) n.433A>G | |
2 | g.206767068A>T | CA350070260 | FASTKD2 | c.375A>T (p.Lys125Asn) n.433A>T | |
2 | g.206767069T>A | CA350070269 | FASTKD2 | c.376T>A (p.Ser126Thr) n.434T>A | |
2 | g.206767069T>C | CA350070273 | FASTKD2 | c.376T>C (p.Ser126Pro) n.434T>C | |
2 | g.206767069T>G | CA350070275 | FASTKD2 | c.376T>G (p.Ser126Ala) n.434T>G | |
2 | g.206767069_206767072delinsTCTG | CA1323320459 | FASTKD2 | c.376_379delinsTCTG (p.Ser126=) n.434_437delinsTCTG | |
2 | g.206767070C>A | CA350070284 | FASTKD2 | c.377C>A (p.Ser126Tyr) n.435C>A | |
2 | g.206767070C>G | CA350070288 | FASTKD2 | c.377C>G (p.Ser126Cys) n.435C>G | |
2 | g.206767070C>T | CA350070290 | FASTKD2 | c.377C>T (p.Ser126Phe) n.435C>T | |
2 | g.206767070_206767072del | CA2074873 | FASTKD2 | c.377_379del (p.Ser126_Asp127delinsTyr) n.435_437del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767071T>A | CA431115057 | FASTKD2 | c.378T>A (p.Ser126=) n.436T>A | |
2 | g.206767071T>C | CA431115059 | FASTKD2 | c.378T>C (p.Ser126=) n.436T>C | |
2 | g.206767071T>G | CA431115060 | FASTKD2 | c.378T>G (p.Ser126=) n.436T>G | |
2 | g.206767077_206767079del | CA2577223887 | FASTKD2 | c.384_386del (p.Asp128del) n.442_444del | gnomAD v4 |
2 | g.206767072G>A | CA350070304 | FASTKD2 | c.379G>A (p.Asp127Asn) n.437G>A | |
2 | g.206767072G>C | CA350070300 | FASTKD2 | c.379G>C (p.Asp127His) n.437G>C | |
2 | g.206767072G>T | CA350070302 | FASTKD2 | c.379G>T (p.Asp127Tyr) n.437G>T | gnomAD v4 |
2 | g.206767073A>C | CA350070309 | FASTKD2 | c.380A>C (p.Asp127Ala) n.438A>C | |
2 | g.206767073A>G | CA350070311 | FASTKD2 | c.380A>G (p.Asp127Gly) n.438A>G | |
2 | g.206767073A>T | CA350070313 | FASTKD2 | c.380A>T (p.Asp127Val) n.438A>T | |
2 | g.206767074T>A | CA350070316 | FASTKD2 | c.381T>A (p.Asp127Glu) n.439T>A | |
2 | g.206767074T>C | CA431115070 | FASTKD2 | c.381T>C (p.Asp127=) n.439T>C | gnomAD v4 |
2 | g.206767074T>G | CA350070321 | FASTKD2 | c.381T>G (p.Asp127Glu) n.439T>G | gnomAD v4 |
2 | g.206767075G>A | CA350070324 | FASTKD2 | c.382G>A (p.Asp128Asn) n.440G>A | |
2 | g.206767075G>C | CA350070327 | FASTKD2 | c.382G>C (p.Asp128His) n.440G>C | |
2 | g.206767075G>T | CA350070330 | FASTKD2 | c.382G>T (p.Asp128Tyr) n.440G>T | |
2 | g.206767076A= | CA1323320460 | FASTKD2 | c.383A= (p.Asp128=) n.441A= | |
2 | g.206767076A>C | CA350070333 | FASTKD2 | c.383A>C (p.Asp128Ala) n.441A>C | gnomAD v4 |
2 | g.206767076A>G | CA350070339 | FASTKD2 | c.383A>G (p.Asp128Gly) n.441A>G | dbSNP |
2 | g.206767076A>T | CA350070345 | FASTKD2 | c.383A>T (p.Asp128Val) n.441A>T | |
2 | g.206767077T>A | CA350070348 | FASTKD2 | c.384T>A (p.Asp128Glu) n.442T>A | |
2 | g.206767077T>C | CA431115076 | FASTKD2 | c.384T>C (p.Asp128=) n.442T>C | |
2 | g.206767077T>G | CA350070352 | FASTKD2 | c.384T>G (p.Asp128Glu) n.442T>G | |
2 | g.206767078G>A | CA2074874 | FASTKD2 | c.385G>A (p.Glu129Lys) n.443G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767078G>C | CA350070357 | FASTKD2 | c.385G>C (p.Glu129Gln) n.443G>C | |
2 | g.206767078G= | CA1323320461 | FASTKD2 | c.385G= (p.Glu129=) n.443G= | |
2 | g.206767078G>T | CA350070360 | FASTKD2 | c.385G>T (p.Glu129Ter) n.443G>T | gnomAD v4 |
2 | g.206767079A>C | CA350070368 | FASTKD2 | c.386A>C (p.Glu129Ala) n.444A>C | |
2 | g.206767079A>G | CA350070376 | FASTKD2 | c.386A>G (p.Glu129Gly) n.444A>G | |
2 | g.206767079A>T | CA350070379 | FASTKD2 | c.386A>T (p.Glu129Val) n.444A>T | |
2 | g.206767080A>C | CA350070382 | FASTKD2 | c.387A>C (p.Glu129Asp) n.445A>C | |
2 | g.206767080A>G | CA431115080 | FASTKD2 | c.387A>G (p.Glu129=) n.445A>G | |
2 | g.206767080A>T | CA350070389 | FASTKD2 | c.387A>T (p.Glu129Asp) n.445A>T | |
2 | g.206767081T>A | CA350070391 | FASTKD2 | c.388T>A (p.Leu130Met) n.446T>A | |
2 | g.206767081T>C | CA431115081 | FASTKD2 | c.388T>C (p.Leu130=) n.446T>C | gnomAD v4 |
2 | g.206767081T>G | CA350070393 | FASTKD2 | c.388T>G (p.Leu130Val) n.446T>G | |
2 | g.206767082T>A | CA350070399 | FASTKD2 | c.389T>A (p.Leu130Ter) n.447T>A | |
2 | g.206767082T>C | CA350070400 | FASTKD2 | c.389T>C (p.Leu130Ser) n.447T>C | gnomAD v4 |
2 | g.206767082T>G | CA350070402 | FASTKD2 | c.389T>G (p.Leu130Trp) n.447T>G | |
2 | g.206767083G>A | CA431115085 | FASTKD2 | c.390G>A (p.Leu130=) n.448G>A | gnomAD v4 |
2 | g.206767083G>C | CA350070406 | FASTKD2 | c.390G>C (p.Leu130Phe) n.448G>C | |
2 | g.206767083G>T | CA350070407 | FASTKD2 | c.390G>T (p.Leu130Phe) n.448G>T | |
2 | g.206767084A>C | CA350070408 | FASTKD2 | c.391A>C (p.Lys131Gln) n.449A>C | |
2 | g.206767084A>G | CA350070409 | FASTKD2 | c.391A>G (p.Lys131Glu) n.449A>G | gnomAD v4 |
2 | g.206767084A>T | CA350070411 | FASTKD2 | c.391A>T (p.Lys131Ter) n.449A>T | |
2 | g.206767085A= | CA1323320462 | FASTKD2 | c.392A= (p.Lys131=) n.450A= | |
2 | g.206767085A>C | CA350070413 | FASTKD2 | c.392A>C (p.Lys131Thr) n.450A>C | |
2 | g.206767085A>G | CA2074875 | FASTKD2 | c.392A>G (p.Lys131Arg) n.450A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767085A>T | CA350070414 | FASTKD2 | c.392A>T (p.Lys131Met) n.450A>T | |
2 | g.206767086G>A | CA63709938 | FASTKD2 | c.393G>A (p.Lys131=) n.451G>A | dbSNP |
2 | g.206767086G>C | CA350070429 | FASTKD2 | c.393G>C (p.Lys131Asn) n.451G>C | gnomAD v4 |
2 | g.206767086G= | CA1323320463 | FASTKD2 | c.393G= (p.Lys131=) n.451G= | |
2 | g.206767086G>T | CA350070435 | FASTKD2 | c.393G>T (p.Lys131Asn) n.451G>T | gnomAD v4 |
2 | g.206767087A= | CA1323320464 | FASTKD2 | c.394A= (p.Lys132=) n.452A= | |
2 | g.206767087A>C | CA350070436 | FASTKD2 | c.394A>C (p.Lys132Gln) n.452A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767087A>G | CA350070437 | FASTKD2 | c.394A>G (p.Lys132Glu) n.452A>G | |
2 | g.206767087A>T | CA350070438 | FASTKD2 | c.394A>T (p.Lys132Ter) n.452A>T | |
2 | g.206767088A>C | CA350070454 | FASTKD2 | c.395A>C (p.Lys132Thr) n.453A>C | |
2 | g.206767088A>G | CA350070458 | FASTKD2 | c.395A>G (p.Lys132Arg) n.453A>G | |
2 | g.206767088A>T | CA350070442 | FASTKD2 | c.395A>T (p.Lys132Ile) n.453A>T | |
2 | g.206767089A>C | CA350070470 | FASTKD2 | c.396A>C (p.Lys132Asn) n.454A>C | |
2 | g.206767089A>G | CA431115091 | FASTKD2 | c.396A>G (p.Lys132=) n.454A>G | |
2 | g.206767089A>T | CA350070471 | FASTKD2 | c.396A>T (p.Lys132Asn) n.454A>T | |
2 | g.206767090G>A | CA350070472 | FASTKD2 | c.397G>A (p.Val133Ile) n.455G>A | gnomAD v4 |
2 | g.206767090G>C | CA350070473 | FASTKD2 | c.397G>C (p.Val133Leu) n.455G>C | |
2 | g.206767090G>T | CA350070478 | FASTKD2 | c.397G>T (p.Val133Leu) n.455G>T | |
2 | g.206767091T>A | CA350070489 | FASTKD2 | c.398T>A (p.Val133Glu) n.456T>A | |
2 | g.206767091T>C | CA350070495 | FASTKD2 | c.398T>C (p.Val133Ala) n.456T>C | |
2 | g.206767091T>G | CA350070502 | FASTKD2 | c.398T>G (p.Val133Gly) n.456T>G | |
2 | g.206767092A>C | CA431115099 | FASTKD2 | c.399A>C (p.Val133=) n.457A>C | |
2 | g.206767092A>G | CA431115101 | FASTKD2 | c.399A>G (p.Val133=) n.457A>G | |
2 | g.206767092A>T | CA431115103 | FASTKD2 | c.399A>T (p.Val133=) n.457A>T | |
2 | g.206767093A= | CA1323320465 | FASTKD2 | c.400A= (p.Asn134=) n.458A= | |
2 | g.206767093A>C | CA350070506 | FASTKD2 | c.400A>C (p.Asn134His) n.458A>C | |
2 | g.206767093A>G | CA350070515 | FASTKD2 | c.400A>G (p.Asn134Asp) n.458A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767093A>T | CA350070519 | FASTKD2 | c.400A>T (p.Asn134Tyr) n.458A>T | |
2 | g.206767094A>C | CA350070526 | FASTKD2 | c.401A>C (p.Asn134Thr) n.459A>C | gnomAD v4 |
2 | g.206767094A>G | CA350070528 | FASTKD2 | c.401A>G (p.Asn134Ser) n.459A>G | gnomAD v4 |
2 | g.206767094A>T | CA350070531 | FASTKD2 | c.401A>T (p.Asn134Ile) n.459A>T | |
2 | g.206767095C>A | CA350070546 | FASTKD2 | c.402C>A (p.Asn134Lys) n.460C>A | |
2 | g.206767095C>G | CA350070538 | FASTKD2 | c.402C>G (p.Asn134Lys) n.460C>G | |
2 | g.206767095C>T | CA431115111 | FASTKD2 | c.402C>T (p.Asn134=) n.460C>T | |
2 | g.206767096C>A | CA350070564 | FASTKD2 | c.403C>A (p.Leu135Ile) n.461C>A | |
2 | g.206767096C= | CA1323320466 | FASTKD2 | c.403C= (p.Leu135=) n.461C= | |
2 | g.206767096C>G | CA350070568 | FASTKD2 | c.403C>G (p.Leu135Val) n.461C>G | |
2 | g.206767096C>T | CA350070582 | FASTKD2 | c.403C>T (p.Leu135Phe) n.461C>T | dbSNP gnomAD v2 |
2 | g.206767097T>A | CA350070586 | FASTKD2 | c.404T>A (p.Leu135His) n.462T>A | |
2 | g.206767097T>C | CA350070592 | FASTKD2 | c.404T>C (p.Leu135Pro) n.462T>C | |
2 | g.206767097T>G | CA350070594 | FASTKD2 | c.404T>G (p.Leu135Arg) n.462T>G | |
2 | g.206767098T>A | CA431115114 | FASTKD2 | c.405T>A (p.Leu135=) n.463T>A | |
2 | g.206767098T>C | CA431115116 | FASTKD2 | c.405T>C (p.Leu135=) n.463T>C | |
2 | g.206767098T>G | CA431115117 | FASTKD2 | c.405T>G (p.Leu135=) n.463T>G | |
2 | g.206767099A= | CA1323320467 | FASTKD2 | c.406A= (p.Asn136=) n.464A= | |
2 | g.206767099A>C | CA2074876 | FASTKD2 | c.406A>C (p.Asn136His) n.464A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767099A>G | CA350070604 | FASTKD2 | c.406A>G (p.Asn136Asp) n.464A>G | |
2 | g.206767099A>T | CA350070610 | FASTKD2 | c.406A>T (p.Asn136Tyr) n.464A>T | |
2 | g.206767100A>C | CA350070637 | FASTKD2 | c.407A>C (p.Asn136Thr) n.465A>C | |
2 | g.206767100A>G | CA350070646 | FASTKD2 | c.407A>G (p.Asn136Ser) n.465A>G | |
2 | g.206767100A>T | CA350070652 | FASTKD2 | c.407A>T (p.Asn136Ile) n.465A>T | |
2 | g.206767101T>A | CA350070657 | FASTKD2 | c.408T>A (p.Asn136Lys) n.466T>A | |
2 | g.206767101T>C | CA431115123 | FASTKD2 | c.408T>C (p.Asn136=) n.466T>C | |
2 | g.206767101T>G | CA350070659 | FASTKD2 | c.408T>G (p.Asn136Lys) n.466T>G | dbSNP |
2 | g.206767101T= | CA1323320468 | FASTKD2 | c.408T= (p.Asn136=) n.466T= | |
2 | g.206767101_206767102delinsTC | CA1323320469 | FASTKD2 | c.408_409delinsTC (p.Asn136=) n.466_467delinsTC | |
2 | g.206767102del | CA539388778 | FASTKD2 | c.409del (p.His137MetfsTer30) n.467del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767102C>A | CA350070664 | FASTKD2 | c.409C>A (p.His137Asn) n.467C>A | |
2 | g.206767102C>G | CA350070685 | FASTKD2 | c.409C>G (p.His137Asp) n.467C>G | |
2 | g.206767102C>T | CA350070684 | FASTKD2 | c.409C>T (p.His137Tyr) n.467C>T | |
2 | g.206767103A>C | CA350070688 | FASTKD2 | c.410A>C (p.His137Pro) n.468A>C | |
2 | g.206767103A>G | CA350070702 | FASTKD2 | c.410A>G (p.His137Arg) n.468A>G | gnomAD v4 |
2 | g.206767103A>T | CA350070703 | FASTKD2 | c.410A>T (p.His137Leu) n.468A>T | |
2 | g.206767104T>A | CA350070704 | FASTKD2 | c.411T>A (p.His137Gln) n.469T>A | |
2 | g.206767104T>C | CA431115125 | FASTKD2 | c.411T>C (p.His137=) n.469T>C | |
2 | g.206767104T>G | CA2074877 | FASTKD2 | c.411T>G (p.His137Gln) n.469T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767104T= | CA1323320470 | FASTKD2 | c.411T= (p.His137=) n.469T= | |
2 | g.206767105G>A | CA350070709 | FASTKD2 | c.412G>A (p.Glu138Lys) n.470G>A | |
2 | g.206767105G>C | CA350070714 | FASTKD2 | c.412G>C (p.Glu138Gln) n.470G>C | |
2 | g.206767105G>T | CA350070718 | FASTKD2 | c.412G>T (p.Glu138Ter) n.470G>T | |
2 | g.206767106A>C | CA350070719 | FASTKD2 | c.413A>C (p.Glu138Ala) n.471A>C | |
2 | g.206767106A>G | CA350070720 | FASTKD2 | c.413A>G (p.Glu138Gly) n.471A>G | |
2 | g.206767106A>T | CA350070721 | FASTKD2 | c.413A>T (p.Glu138Val) n.471A>T | |
2 | g.206767107A= | CA1323320471 | FASTKD2 | c.414A= (p.Glu138=) n.472A= | |
2 | g.206767107A>C | CA350070723 | FASTKD2 | c.414A>C (p.Glu138Asp) n.472A>C | gnomAD v4 |
2 | g.206767107A>G | CA63709949 | FASTKD2 | c.414A>G (p.Glu138=) n.472A>G | dbSNP |
2 | g.206767107A>T | CA350070727 | FASTKD2 | c.414A>T (p.Glu138Asp) n.472A>T | |
2 | g.206767108G>A | CA350070737 | FASTKD2 | c.415G>A (p.Val139Ile) n.473G>A | dbSNP |
2 | g.206767108G>C | CA350070730 | FASTKD2 | c.415G>C (p.Val139Leu) n.473G>C | |
2 | g.206767108G= | CA1323320472 | FASTKD2 | c.415G= (p.Val139=) n.473G= | |
2 | g.206767108G>T | CA350070736 | FASTKD2 | c.415G>T (p.Val139Phe) n.473G>T | gnomAD v4 |
2 | g.206767109T>A | CA350070738 | FASTKD2 | c.416T>A (p.Val139Asp) n.474T>A | |
2 | g.206767109T>C | CA350070741 | FASTKD2 | c.416T>C (p.Val139Ala) n.474T>C | gnomAD v4 |
2 | g.206767109T>G | CA350070745 | FASTKD2 | c.416T>G (p.Val139Gly) n.474T>G | |
2 | g.206767110C>A | CA431115138 | FASTKD2 | c.417C>A (p.Val139=) n.475C>A | |
2 | g.206767110C= | CA1323320473 | FASTKD2 | c.417C= (p.Val139=) n.475C= | |
2 | g.206767110C>G | CA2074878 | FASTKD2 | c.417C>G (p.Val139=) n.475C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767110C>T | CA431115141 | FASTKD2 | c.417C>T (p.Val139=) n.475C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767111T>A | CA350070752 | FASTKD2 | c.418T>A (p.Ser140Thr) n.476T>A | |
2 | g.206767111T>C | CA350070763 | FASTKD2 | c.418T>C (p.Ser140Pro) n.476T>C | |
2 | g.206767111T>G | CA350070766 | FASTKD2 | c.418T>G (p.Ser140Ala) n.476T>G | |
2 | g.206767112C>A | CA350070768 | FASTKD2 | c.419C>A (p.Ser140Tyr) n.477C>A | |
2 | g.206767112C>G | CA350070769 | FASTKD2 | c.419C>G (p.Ser140Cys) n.477C>G | gnomAD v4 |
2 | g.206767112C>T | CA350070780 | FASTKD2 | c.419C>T (p.Ser140Phe) n.477C>T | gnomAD v4 |
2 | g.206767113C>A | CA431115154 | FASTKD2 | c.420C>A (p.Ser140=) n.478C>A | |
2 | g.206767113C>G | CA431115155 | FASTKD2 | c.420C>G (p.Ser140=) n.478C>G | |
2 | g.206767113C>T | CA431115158 | FASTKD2 | c.420C>T (p.Ser140=) n.478C>T | |
2 | g.206767114A>C | CA350070786 | FASTKD2 | c.421A>C (p.Asn141His) n.479A>C | |
2 | g.206767114A>G | CA350070787 | FASTKD2 | c.421A>G (p.Asn141Asp) n.479A>G | |
2 | g.206767114A>T | CA350070788 | FASTKD2 | c.421A>T (p.Asn141Tyr) n.479A>T | |
2 | g.206767115A= | CA1323320474 | FASTKD2 | c.422A= (p.Asn141=) n.480A= | |
2 | g.206767115A>C | CA350070790 | FASTKD2 | c.422A>C (p.Asn141Thr) n.480A>C | |
2 | g.206767115A>G | CA350070791 | FASTKD2 | c.422A>G (p.Asn141Ser) n.480A>G | dbSNP gnomAD v4 |
2 | g.206767115A>T | CA350070789 | FASTKD2 | c.422A>T (p.Asn141Ile) n.480A>T | |
2 | g.206767116T>A | CA350070795 | FASTKD2 | c.423T>A (p.Asn141Lys) n.481T>A | |
2 | g.206767116T>C | CA431115160 | FASTKD2 | c.423T>C (p.Asn141=) n.481T>C | |
2 | g.206767116T>G | CA350070794 | FASTKD2 | c.423T>G (p.Asn141Lys) n.481T>G | gnomAD v4 |
2 | g.206767117G>A | CA2074879 | FASTKD2 | c.424G>A (p.Glu142Lys) n.482G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767117G>C | CA350070806 | FASTKD2 | c.424G>C (p.Glu142Gln) n.482G>C | |
2 | g.206767117G= | CA1323320475 | FASTKD2 | c.424G= (p.Glu142=) n.482G= | |
2 | g.206767117G>T | CA350070814 | FASTKD2 | c.424G>T (p.Glu142Ter) n.482G>T | |
2 | g.206767118A>C | CA350070816 | FASTKD2 | c.425A>C (p.Glu142Ala) n.483A>C | |
2 | g.206767118A>G | CA350070819 | FASTKD2 | c.425A>G (p.Glu142Gly) n.483A>G | |
2 | g.206767118A>T | CA350070818 | FASTKD2 | c.425A>T (p.Glu142Val) n.483A>T | |
2 | g.206767119A= | CA1323320476 | FASTKD2 | c.426A= (p.Glu142=) n.484A= | |
2 | g.206767119A>C | CA350070823 | FASTKD2 | c.426A>C (p.Glu142Asp) n.484A>C | |
2 | g.206767119A>G | CA431115168 | FASTKD2 | c.426A>G (p.Glu142=) n.484A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767119A>T | CA350070826 | FASTKD2 | c.426A>T (p.Glu142Asp) n.484A>T | |
2 | g.206767120G>A | CA350070830 | FASTKD2 | c.427G>A (p.Asp143Asn) n.485G>A | |
2 | g.206767120G>C | CA350070833 | FASTKD2 | c.427G>C (p.Asp143His) n.485G>C | |
2 | g.206767120G>T | CA350070832 | FASTKD2 | c.427G>T (p.Asp143Tyr) n.485G>T | |
2 | g.206767121A= | CA1323320477 | FASTKD2 | c.428A= (p.Asp143=) n.486A= | |
2 | g.206767121A>C | CA350070836 | FASTKD2 | c.428A>C (p.Asp143Ala) n.486A>C | dbSNP |
2 | g.206767121A>G | CA350070844 | FASTKD2 | c.428A>G (p.Asp143Gly) n.486A>G | gnomAD v4 |
2 | g.206767121A>T | CA350070841 | FASTKD2 | c.428A>T (p.Asp143Val) n.486A>T | |
2 | g.206767122T>A | CA350070847 | FASTKD2 | c.429T>A (p.Asp143Glu) n.487T>A | gnomAD v4 |
2 | g.206767122T>C | CA431115178 | FASTKD2 | c.429T>C (p.Asp143=) n.487T>C | gnomAD v4 |
2 | g.206767122T>G | CA350070848 | FASTKD2 | c.429T>G (p.Asp143Glu) n.487T>G | |
2 | g.206767123G>A | CA350070852 | FASTKD2 | c.430G>A (p.Val144Ile) n.488G>A | dbSNP |
2 | g.206767123G>C | CA2074880 | FASTKD2 | c.430G>C (p.Val144Leu) n.488G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767123G= | CA1323320478 | FASTKD2 | c.430G= (p.Val144=) n.488G= | |
2 | g.206767123G>T | CA350070855 | FASTKD2 | c.430G>T (p.Val144Phe) n.488G>T | |
2 | g.206767124T>A | CA350070858 | FASTKD2 | c.431T>A (p.Val144Asp) n.489T>A | |
2 | g.206767124T>C | CA350070859 | FASTKD2 | c.431T>C (p.Val144Ala) n.489T>C | |
2 | g.206767124T>G | CA350070860 | FASTKD2 | c.431T>G (p.Val144Gly) n.489T>G | |
2 | g.206767125T>A | CA431115191 | FASTKD2 | c.432T>A (p.Val144=) n.490T>A | |
2 | g.206767125T>C | CA431115190 | FASTKD2 | c.432T>C (p.Val144=) n.490T>C | gnomAD v4 |
2 | g.206767125T>G | CA431115189 | FASTKD2 | c.432T>G (p.Val144=) n.490T>G | |
2 | g.206767126C>A | CA350070863 | FASTKD2 | c.433C>A (p.Leu145Ile) n.491C>A | |
2 | g.206767126C>G | CA350070865 | FASTKD2 | c.433C>G (p.Leu145Val) n.491C>G | |
2 | g.206767126C>T | CA350070868 | FASTKD2 | c.433C>T (p.Leu145Phe) n.491C>T | |
2 | g.206767127T>A | CA350070880 | FASTKD2 | c.434T>A (p.Leu145His) n.492T>A | |
2 | g.206767127T>C | CA350070874 | FASTKD2 | c.434T>C (p.Leu145Pro) n.492T>C | |
2 | g.206767127T>G | CA350070871 | FASTKD2 | c.434T>G (p.Leu145Arg) n.492T>G | |
2 | g.206767128T>A | CA431115201 | FASTKD2 | c.435T>A (p.Leu145=) n.493T>A | |
2 | g.206767128T>C | CA2074881 | FASTKD2 | c.435T>C (p.Leu145=) n.493T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767128T>G | CA431115205 | FASTKD2 | c.435T>G (p.Leu145=) n.493T>G | |
2 | g.206767128T= | CA1323320479 | FASTKD2 | c.435T= (p.Leu145=) n.493T= | |
2 | g.206767129A= | CA1323320480 | FASTKD2 | c.436A= (p.Thr146=) n.494A= | |
2 | g.206767129A>C | CA350070889 | FASTKD2 | c.436A>C (p.Thr146Pro) n.494A>C | |
2 | g.206767129A>G | CA350070890 | FASTKD2 | c.436A>G (p.Thr146Ala) n.494A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767129A>T | CA350070891 | FASTKD2 | c.436A>T (p.Thr146Ser) n.494A>T | |
2 | g.206767130C>A | CA350070892 | FASTKD2 | c.437C>A (p.Thr146Asn) n.495C>A | gnomAD v4 |
2 | g.206767130C>G | CA350070893 | FASTKD2 | c.437C>G (p.Thr146Ser) n.495C>G | gnomAD v4 |
2 | g.206767130C>T | CA350070896 | FASTKD2 | c.437C>T (p.Thr146Ile) n.495C>T | |
2 | g.206767131C>A | CA431115210 | FASTKD2 | c.438C>A (p.Thr146=) n.496C>A | gnomAD v4 |
2 | g.206767131C>G | CA431115212 | FASTKD2 | c.438C>G (p.Thr146=) n.496C>G | |
2 | g.206767131C>T | CA431115213 | FASTKD2 | c.438C>T (p.Thr146=) n.496C>T | |
2 | g.206767132A= | CA1323320481 | FASTKD2 | c.439A= (p.Lys147=) n.497A= | |
2 | g.206767132A>C | CA350070899 | FASTKD2 | c.439A>C (p.Lys147Gln) n.497A>C | |
2 | g.206767132A>G | CA350070902 | FASTKD2 | c.439A>G (p.Lys147Glu) n.497A>G | dbSNP gnomAD v4 |
2 | g.206767132A>T | CA350070904 | FASTKD2 | c.439A>T (p.Lys147Ter) n.497A>T | |
2 | g.206767133A>C | CA350070909 | FASTKD2 | c.440A>C (p.Lys147Thr) n.498A>C | |
2 | g.206767133A>G | CA350070921 | FASTKD2 | c.440A>G (p.Lys147Arg) n.498A>G | |
2 | g.206767133A>T | CA350070928 | FASTKD2 | c.440A>T (p.Lys147Met) n.498A>T | |
2 | g.206767134G>A | CA431115223 | FASTKD2 | c.441G>A (p.Lys147=) n.499G>A | |
2 | g.206767134G>C | CA350070932 | FASTKD2 | c.441G>C (p.Lys147Asn) n.499G>C | |
2 | g.206767134G>T | CA350070930 | FASTKD2 | c.441G>T (p.Lys147Asn) n.499G>T | gnomAD v4 |
2 | g.206767135G>A | CA350070935 | FASTKD2 | c.442G>A (p.Glu148Lys) n.500G>A | |
2 | g.206767135G>C | CA350070938 | FASTKD2 | c.442G>C (p.Glu148Gln) n.500G>C | |
2 | g.206767135G>T | CA350070941 | FASTKD2 | c.442G>T (p.Glu148Ter) n.500G>T |