| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144403918G>A | CA267217 | ZEB2 | c.*654C>T (n.*654C>T) c.28C>T (p.Gln10Ter) c.805C>T (p.Gln269Ter) n.774C>T c.469C>T (p.Gln157Ter) c.*522C>T (n.*522C>T) n.905C>T c.-133-5068C>T (n.-133-5068C>T) c.802C>T (p.Gln268Ter) c.889C>T (p.Gln297Ter) c.544C>T (p.Gln182Ter) c.892C>T (p.Gln298Ter) c.790C>T (p.Gln264Ter) c.733C>T (p.Gln245Ter) c.796C>T (p.Gln266Ter) c.784C>T (p.Gln262Ter) | ClinVar dbSNP |
| 2 | g.144403918G>C | CA348714529 | ZEB2 | c.*654C>G (n.*654C>G) c.28C>G (p.Gln10Glu) c.805C>G (p.Gln269Glu) n.774C>G c.469C>G (p.Gln157Glu) c.*522C>G (n.*522C>G) n.905C>G c.-133-5068C>G (n.-133-5068C>G) c.802C>G (p.Gln268Glu) c.889C>G (p.Gln297Glu) c.544C>G (p.Gln182Glu) c.892C>G (p.Gln298Glu) c.790C>G (p.Gln264Glu) c.733C>G (p.Gln245Glu) c.796C>G (p.Gln266Glu) c.784C>G (p.Gln262Glu) | |
| 2 | g.144403918G= | CA1294887161 | ZEB2 | c.*654C= (n.*654C=) c.28C= (p.Gln10=) c.805C= (p.Gln269=) n.774C= c.469C= (p.Gln157=) c.*522C= (n.*522C=) n.905C= c.-133-5068C= (n.-133-5068C=) c.802C= (p.Gln268=) c.889C= (p.Gln297=) c.544C= (p.Gln182=) c.892C= (p.Gln298=) c.790C= (p.Gln264=) c.733C= (p.Gln245=) c.796C= (p.Gln266=) c.784C= (p.Gln262=) | |
| 2 | g.144403918G>T | CA348714531 | ZEB2 | c.*654C>A (n.*654C>A) c.28C>A (p.Gln10Lys) c.805C>A (p.Gln269Lys) n.774C>A c.469C>A (p.Gln157Lys) c.*522C>A (n.*522C>A) n.905C>A c.-133-5068C>A (n.-133-5068C>A) c.802C>A (p.Gln268Lys) c.889C>A (p.Gln297Lys) c.544C>A (p.Gln182Lys) c.892C>A (p.Gln298Lys) c.790C>A (p.Gln264Lys) c.733C>A (p.Gln245Lys) c.796C>A (p.Gln266Lys) c.784C>A (p.Gln262Lys) | |
| 2 | g.144403919A>C | CA348714533 | ZEB2 | c.*653T>G (n.*653T>G) c.27T>G (p.Asp9Glu) c.804T>G (p.Asp268Glu) n.773T>G c.468T>G (p.Asp156Glu) c.*521T>G (n.*521T>G) n.904T>G c.-133-5069T>G (n.-133-5069T>G) c.801T>G (p.Asp267Glu) c.888T>G (p.Asp296Glu) c.543T>G (p.Asp181Glu) c.891T>G (p.Asp297Glu) c.789T>G (p.Asp263Glu) c.732T>G (p.Asp244Glu) c.795T>G (p.Asp265Glu) c.783T>G (p.Asp261Glu) | |
| 2 | g.144403919A>G | CA429218425 | ZEB2 | c.*653T>C (n.*653T>C) c.27T>C (p.Asp9=) c.804T>C (p.Asp268=) n.773T>C c.468T>C (p.Asp156=) c.*521T>C (n.*521T>C) n.904T>C c.-133-5069T>C (n.-133-5069T>C) c.801T>C (p.Asp267=) c.888T>C (p.Asp296=) c.543T>C (p.Asp181=) c.891T>C (p.Asp297=) c.789T>C (p.Asp263=) c.732T>C (p.Asp244=) c.795T>C (p.Asp265=) c.783T>C (p.Asp261=) | |
| 2 | g.144403919A>T | CA348714535 | ZEB2 | c.*653T>A (n.*653T>A) c.27T>A (p.Asp9Glu) c.804T>A (p.Asp268Glu) n.773T>A c.468T>A (p.Asp156Glu) c.*521T>A (n.*521T>A) n.904T>A c.-133-5069T>A (n.-133-5069T>A) c.801T>A (p.Asp267Glu) c.888T>A (p.Asp296Glu) c.543T>A (p.Asp181Glu) c.891T>A (p.Asp297Glu) c.789T>A (p.Asp263Glu) c.732T>A (p.Asp244Glu) c.795T>A (p.Asp265Glu) c.783T>A (p.Asp261Glu) | |
| 2 | g.144403920T>A | CA348714539 | ZEB2 | c.*652A>T (n.*652A>T) c.26A>T (p.Asp9Val) c.803A>T (p.Asp268Val) n.772A>T c.467A>T (p.Asp156Val) c.*520A>T (n.*520A>T) n.903A>T c.-133-5070A>T (n.-133-5070A>T) c.800A>T (p.Asp267Val) c.887A>T (p.Asp296Val) c.542A>T (p.Asp181Val) c.890A>T (p.Asp297Val) c.788A>T (p.Asp263Val) c.731A>T (p.Asp244Val) c.794A>T (p.Asp265Val) c.782A>T (p.Asp261Val) | |
| 2 | g.144403920T>C | CA348714541 | ZEB2 | c.*652A>G (n.*652A>G) c.26A>G (p.Asp9Gly) c.803A>G (p.Asp268Gly) n.772A>G c.467A>G (p.Asp156Gly) c.*520A>G (n.*520A>G) n.903A>G c.-133-5070A>G (n.-133-5070A>G) c.800A>G (p.Asp267Gly) c.887A>G (p.Asp296Gly) c.542A>G (p.Asp181Gly) c.890A>G (p.Asp297Gly) c.788A>G (p.Asp263Gly) c.731A>G (p.Asp244Gly) c.794A>G (p.Asp265Gly) c.782A>G (p.Asp261Gly) | |
| 2 | g.144403920T>G | CA348714542 | ZEB2 | c.*652A>C (n.*652A>C) c.26A>C (p.Asp9Ala) c.803A>C (p.Asp268Ala) n.772A>C c.467A>C (p.Asp156Ala) c.*520A>C (n.*520A>C) n.903A>C c.-133-5070A>C (n.-133-5070A>C) c.800A>C (p.Asp267Ala) c.887A>C (p.Asp296Ala) c.542A>C (p.Asp181Ala) c.890A>C (p.Asp297Ala) c.788A>C (p.Asp263Ala) c.731A>C (p.Asp244Ala) c.794A>C (p.Asp265Ala) c.782A>C (p.Asp261Ala) | |
| 2 | g.144403921C>A | CA348714546 | ZEB2 | c.*651G>T (n.*651G>T) c.25G>T (p.Asp9Tyr) c.802G>T (p.Asp268Tyr) n.771G>T c.466G>T (p.Asp156Tyr) c.*519G>T (n.*519G>T) n.902G>T c.-133-5071G>T (n.-133-5071G>T) c.799G>T (p.Asp267Tyr) c.886G>T (p.Asp296Tyr) c.541G>T (p.Asp181Tyr) c.889G>T (p.Asp297Tyr) c.787G>T (p.Asp263Tyr) c.730G>T (p.Asp244Tyr) c.793G>T (p.Asp265Tyr) c.781G>T (p.Asp261Tyr) | |
| 2 | g.144403921C>G | CA348714549 | ZEB2 | c.*651G>C (n.*651G>C) c.25G>C (p.Asp9His) c.802G>C (p.Asp268His) n.771G>C c.466G>C (p.Asp156His) c.*519G>C (n.*519G>C) n.902G>C c.-133-5071G>C (n.-133-5071G>C) c.799G>C (p.Asp267His) c.886G>C (p.Asp296His) c.541G>C (p.Asp181His) c.889G>C (p.Asp297His) c.787G>C (p.Asp263His) c.730G>C (p.Asp244His) c.793G>C (p.Asp265His) c.781G>C (p.Asp261His) | |
| 2 | g.144403921C>T | CA348714547 | ZEB2 | c.*651G>A (n.*651G>A) c.25G>A (p.Asp9Asn) c.802G>A (p.Asp268Asn) n.771G>A c.466G>A (p.Asp156Asn) c.*519G>A (n.*519G>A) n.902G>A c.-133-5071G>A (n.-133-5071G>A) c.799G>A (p.Asp267Asn) c.886G>A (p.Asp296Asn) c.541G>A (p.Asp181Asn) c.889G>A (p.Asp297Asn) c.787G>A (p.Asp263Asn) c.730G>A (p.Asp244Asn) c.793G>A (p.Asp265Asn) c.781G>A (p.Asp261Asn) | ClinVar |
| 2 | g.144403922T>A | CA429218429 | ZEB2 | c.*650A>T (n.*650A>T) c.24A>T (p.Thr8=) c.801A>T (p.Thr267=) n.770A>T c.465A>T (p.Thr155=) c.*518A>T (n.*518A>T) n.901A>T c.-133-5072A>T (n.-133-5072A>T) c.798A>T (p.Thr266=) c.885A>T (p.Thr295=) c.540A>T (p.Thr180=) c.888A>T (p.Thr296=) c.786A>T (p.Thr262=) c.729A>T (p.Thr243=) c.792A>T (p.Thr264=) c.780A>T (p.Thr260=) | |
| 2 | g.144403922T>C | CA429218430 | ZEB2 | c.*650A>G (n.*650A>G) c.24A>G (p.Thr8=) c.801A>G (p.Thr267=) n.770A>G c.465A>G (p.Thr155=) c.*518A>G (n.*518A>G) n.901A>G c.-133-5072A>G (n.-133-5072A>G) c.798A>G (p.Thr266=) c.885A>G (p.Thr295=) c.540A>G (p.Thr180=) c.888A>G (p.Thr296=) c.786A>G (p.Thr262=) c.729A>G (p.Thr243=) c.792A>G (p.Thr264=) c.780A>G (p.Thr260=) | ClinVar |
| 2 | g.144403922T>G | CA429218431 | ZEB2 | c.*650A>C (n.*650A>C) c.24A>C (p.Thr8=) c.801A>C (p.Thr267=) n.770A>C c.465A>C (p.Thr155=) c.*518A>C (n.*518A>C) n.901A>C c.-133-5072A>C (n.-133-5072A>C) c.798A>C (p.Thr266=) c.885A>C (p.Thr295=) c.540A>C (p.Thr180=) c.888A>C (p.Thr296=) c.786A>C (p.Thr262=) c.729A>C (p.Thr243=) c.792A>C (p.Thr264=) c.780A>C (p.Thr260=) | |
| 2 | g.144403922_144403923insC | CA645521258 | ZEB2 | c.*649_*650insG (n.*649_*650insG) c.23_24insG (p.Asp9ArgfsTer12) c.800_801insG (p.Asp268ArgfsTer12) n.769_770insG c.464_465insG (p.Asp156ArgfsTer12) c.*517_*518insG (n.*517_*518insG) n.900_901insG c.-133-5073_-133-5072insG (n.-133-5073_-133-5072insG) c.797_798insG (p.Asp267ArgfsTer12) c.884_885insG (p.Asp296ArgfsTer12) c.539_540insG (p.Asp181ArgfsTer12) c.887_888insG (p.Asp297ArgfsTer12) c.785_786insG (p.Asp263ArgfsTer12) c.728_729insG (p.Asp244ArgfsTer12) c.791_792insG (p.Asp265ArgfsTer12) c.779_780insG (p.Asp261ArgfsTer12) | COSMIC |
| 2 | g.144403923G>A | CA348714551 | ZEB2 | c.*649C>T (n.*649C>T) c.23C>T (p.Thr8Ile) c.800C>T (p.Thr267Ile) n.769C>T c.464C>T (p.Thr155Ile) c.*517C>T (n.*517C>T) n.900C>T c.-133-5073C>T (n.-133-5073C>T) c.797C>T (p.Thr266Ile) c.884C>T (p.Thr295Ile) c.539C>T (p.Thr180Ile) c.887C>T (p.Thr296Ile) c.785C>T (p.Thr262Ile) c.728C>T (p.Thr243Ile) c.791C>T (p.Thr264Ile) c.779C>T (p.Thr260Ile) | gnomAD v4 |
| 2 | g.144403923G>C | CA348714556 | ZEB2 | c.*649C>G (n.*649C>G) c.23C>G (p.Thr8Arg) c.800C>G (p.Thr267Arg) n.769C>G c.464C>G (p.Thr155Arg) c.*517C>G (n.*517C>G) n.900C>G c.-133-5073C>G (n.-133-5073C>G) c.797C>G (p.Thr266Arg) c.884C>G (p.Thr295Arg) c.539C>G (p.Thr180Arg) c.887C>G (p.Thr296Arg) c.785C>G (p.Thr262Arg) c.728C>G (p.Thr243Arg) c.791C>G (p.Thr264Arg) c.779C>G (p.Thr260Arg) | |
| 2 | g.144403923G>T | CA348714553 | ZEB2 | c.*649C>A (n.*649C>A) c.23C>A (p.Thr8Lys) c.800C>A (p.Thr267Lys) n.769C>A c.464C>A (p.Thr155Lys) c.*517C>A (n.*517C>A) n.900C>A c.-133-5073C>A (n.-133-5073C>A) c.797C>A (p.Thr266Lys) c.884C>A (p.Thr295Lys) c.539C>A (p.Thr180Lys) c.887C>A (p.Thr296Lys) c.785C>A (p.Thr262Lys) c.728C>A (p.Thr243Lys) c.791C>A (p.Thr264Lys) c.779C>A (p.Thr260Lys) | |
| 2 | g.144403923dup | CA429218432 | ZEB2 | c.*649dup (n.*649dup) c.23dup (p.Asp9ArgfsTer12) c.800dup (p.Asp268ArgfsTer12) n.769dup c.464dup (p.Asp156ArgfsTer12) c.*517dup (n.*517dup) n.900dup c.-133-5073dup (n.-133-5073dup) c.797dup (p.Asp267ArgfsTer12) c.884dup (p.Asp296ArgfsTer12) c.539dup (p.Asp181ArgfsTer12) c.887dup (p.Asp297ArgfsTer12) c.785dup (p.Asp263ArgfsTer12) c.728dup (p.Asp244ArgfsTer12) c.791dup (p.Asp265ArgfsTer12) c.779dup (p.Asp261ArgfsTer12) | |
| 2 | g.144403924T>A | CA348714559 | ZEB2 | c.*648A>T (n.*648A>T) c.22A>T (p.Thr8Ser) c.799A>T (p.Thr267Ser) n.768A>T c.463A>T (p.Thr155Ser) c.*516A>T (n.*516A>T) n.899A>T c.-133-5074A>T (n.-133-5074A>T) c.796A>T (p.Thr266Ser) c.883A>T (p.Thr295Ser) c.538A>T (p.Thr180Ser) c.886A>T (p.Thr296Ser) c.784A>T (p.Thr262Ser) c.727A>T (p.Thr243Ser) c.790A>T (p.Thr264Ser) c.778A>T (p.Thr260Ser) | ClinVar |
| 2 | g.144403924T>C | CA348714561 | ZEB2 | c.*648A>G (n.*648A>G) c.22A>G (p.Thr8Ala) c.799A>G (p.Thr267Ala) n.768A>G c.463A>G (p.Thr155Ala) c.*516A>G (n.*516A>G) n.899A>G c.-133-5074A>G (n.-133-5074A>G) c.796A>G (p.Thr266Ala) c.883A>G (p.Thr295Ala) c.538A>G (p.Thr180Ala) c.886A>G (p.Thr296Ala) c.784A>G (p.Thr262Ala) c.727A>G (p.Thr243Ala) c.790A>G (p.Thr264Ala) c.778A>G (p.Thr260Ala) | |
| 2 | g.144403924T>G | CA348714563 | ZEB2 | c.*648A>C (n.*648A>C) c.22A>C (p.Thr8Pro) c.799A>C (p.Thr267Pro) n.768A>C c.463A>C (p.Thr155Pro) c.*516A>C (n.*516A>C) n.899A>C c.-133-5074A>C (n.-133-5074A>C) c.796A>C (p.Thr266Pro) c.883A>C (p.Thr295Pro) c.538A>C (p.Thr180Pro) c.886A>C (p.Thr296Pro) c.784A>C (p.Thr262Pro) c.727A>C (p.Thr243Pro) c.790A>C (p.Thr264Pro) c.778A>C (p.Thr260Pro) | |
| 2 | g.144403925C>A | CA429218434 | ZEB2 | c.*647G>T (n.*647G>T) c.21G>T (p.Gly7=) c.798G>T (p.Gly266=) n.767G>T c.462G>T (p.Gly154=) c.*515G>T (n.*515G>T) n.898G>T c.-133-5075G>T (n.-133-5075G>T) c.795G>T (p.Gly265=) c.882G>T (p.Gly294=) c.537G>T (p.Gly179=) c.885G>T (p.Gly295=) c.783G>T (p.Gly261=) c.726G>T (p.Gly242=) c.789G>T (p.Gly263=) c.777G>T (p.Gly259=) | |
| 2 | g.144403925C= | CA1294887162 | ZEB2 | c.*647G= (n.*647G=) c.21G= (p.Gly7=) c.798G= (p.Gly266=) n.767G= c.462G= (p.Gly154=) c.*515G= (n.*515G=) n.898G= c.-133-5075G= (n.-133-5075G=) c.795G= (p.Gly265=) c.882G= (p.Gly294=) c.537G= (p.Gly179=) c.885G= (p.Gly295=) c.783G= (p.Gly261=) c.726G= (p.Gly242=) c.789G= (p.Gly263=) c.777G= (p.Gly259=) | |
| 2 | g.144403925C>G | CA173953 | ZEB2 | c.*647G>C (n.*647G>C) c.21G>C (p.Gly7=) c.798G>C (p.Gly266=) n.767G>C c.462G>C (p.Gly154=) c.*515G>C (n.*515G>C) n.898G>C c.-133-5075G>C (n.-133-5075G>C) c.795G>C (p.Gly265=) c.882G>C (p.Gly294=) c.537G>C (p.Gly179=) c.885G>C (p.Gly295=) c.783G>C (p.Gly261=) c.726G>C (p.Gly242=) c.789G>C (p.Gly263=) c.777G>C (p.Gly259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144403925C>T | CA16603810 | ZEB2 | c.*647G>A (n.*647G>A) c.21G>A (p.Gly7=) c.798G>A (p.Gly266=) n.767G>A c.462G>A (p.Gly154=) c.*515G>A (n.*515G>A) n.898G>A c.-133-5075G>A (n.-133-5075G>A) c.795G>A (p.Gly265=) c.882G>A (p.Gly294=) c.537G>A (p.Gly179=) c.885G>A (p.Gly295=) c.783G>A (p.Gly261=) c.726G>A (p.Gly242=) c.789G>A (p.Gly263=) c.777G>A (p.Gly259=) | ClinVar dbSNP |
| 2 | g.144403926C>A | CA348714567 | ZEB2 | c.*646G>T (n.*646G>T) c.20G>T (p.Gly7Val) c.797G>T (p.Gly266Val) n.766G>T c.461G>T (p.Gly154Val) c.*514G>T (n.*514G>T) n.897G>T c.-133-5076G>T (n.-133-5076G>T) c.794G>T (p.Gly265Val) c.881G>T (p.Gly294Val) c.536G>T (p.Gly179Val) c.884G>T (p.Gly295Val) c.782G>T (p.Gly261Val) c.725G>T (p.Gly242Val) c.788G>T (p.Gly263Val) c.776G>T (p.Gly259Val) | |
| 2 | g.144403926C= | CA1294887163 | ZEB2 | c.*646G= (n.*646G=) c.20G= (p.Gly7=) c.797G= (p.Gly266=) n.766G= c.461G= (p.Gly154=) c.*514G= (n.*514G=) n.897G= c.-133-5076G= (n.-133-5076G=) c.794G= (p.Gly265=) c.881G= (p.Gly294=) c.536G= (p.Gly179=) c.884G= (p.Gly295=) c.782G= (p.Gly261=) c.725G= (p.Gly242=) c.788G= (p.Gly263=) c.776G= (p.Gly259=) | |
| 2 | g.144403926C>G | CA348714569 | ZEB2 | c.*646G>C (n.*646G>C) c.20G>C (p.Gly7Ala) c.797G>C (p.Gly266Ala) n.766G>C c.461G>C (p.Gly154Ala) c.*514G>C (n.*514G>C) n.897G>C c.-133-5076G>C (n.-133-5076G>C) c.794G>C (p.Gly265Ala) c.881G>C (p.Gly294Ala) c.536G>C (p.Gly179Ala) c.884G>C (p.Gly295Ala) c.782G>C (p.Gly261Ala) c.725G>C (p.Gly242Ala) c.788G>C (p.Gly263Ala) c.776G>C (p.Gly259Ala) | |
| 2 | g.144403926C>T | CA16603807 | ZEB2 | c.*646G>A (n.*646G>A) c.20G>A (p.Gly7Glu) c.797G>A (p.Gly266Glu) n.766G>A c.461G>A (p.Gly154Glu) c.*514G>A (n.*514G>A) n.897G>A c.-133-5076G>A (n.-133-5076G>A) c.794G>A (p.Gly265Glu) c.881G>A (p.Gly294Glu) c.536G>A (p.Gly179Glu) c.884G>A (p.Gly295Glu) c.782G>A (p.Gly261Glu) c.725G>A (p.Gly242Glu) c.788G>A (p.Gly263Glu) c.776G>A (p.Gly259Glu) | ClinVar dbSNP |
| 2 | g.144403927C>A | CA348714570 | ZEB2 | c.*645G>T (n.*645G>T) c.19G>T (p.Gly7Trp) c.796G>T (p.Gly266Trp) n.765G>T c.460G>T (p.Gly154Trp) c.*513G>T (n.*513G>T) n.896G>T c.-133-5077G>T (n.-133-5077G>T) c.793G>T (p.Gly265Trp) c.880G>T (p.Gly294Trp) c.535G>T (p.Gly179Trp) c.883G>T (p.Gly295Trp) c.781G>T (p.Gly261Trp) c.724G>T (p.Gly242Trp) c.787G>T (p.Gly263Trp) c.775G>T (p.Gly259Trp) | |
| 2 | g.144403927C>G | CA348714571 | ZEB2 | c.*645G>C (n.*645G>C) c.19G>C (p.Gly7Arg) c.796G>C (p.Gly266Arg) n.765G>C c.460G>C (p.Gly154Arg) c.*513G>C (n.*513G>C) n.896G>C c.-133-5077G>C (n.-133-5077G>C) c.793G>C (p.Gly265Arg) c.880G>C (p.Gly294Arg) c.535G>C (p.Gly179Arg) c.883G>C (p.Gly295Arg) c.781G>C (p.Gly261Arg) c.724G>C (p.Gly242Arg) c.787G>C (p.Gly263Arg) c.775G>C (p.Gly259Arg) | |
| 2 | g.144403927C>T | CA348714572 | ZEB2 | c.*645G>A (n.*645G>A) c.19G>A (p.Gly7Arg) c.796G>A (p.Gly266Arg) n.765G>A c.460G>A (p.Gly154Arg) c.*513G>A (n.*513G>A) n.896G>A c.-133-5077G>A (n.-133-5077G>A) c.793G>A (p.Gly265Arg) c.880G>A (p.Gly294Arg) c.535G>A (p.Gly179Arg) c.883G>A (p.Gly295Arg) c.781G>A (p.Gly261Arg) c.724G>A (p.Gly242Arg) c.787G>A (p.Gly263Arg) c.775G>A (p.Gly259Arg) | |
| 2 | g.144403928T>A | CA429218440 | ZEB2 | c.*644A>T (n.*644A>T) c.18A>T (p.Pro6=) c.795A>T (p.Pro265=) n.764A>T c.459A>T (p.Pro153=) c.*512A>T (n.*512A>T) n.895A>T c.-133-5078A>T (n.-133-5078A>T) c.792A>T (p.Pro264=) c.879A>T (p.Pro293=) c.534A>T (p.Pro178=) c.882A>T (p.Pro294=) c.780A>T (p.Pro260=) c.723A>T (p.Pro241=) c.786A>T (p.Pro262=) c.774A>T (p.Pro258=) | |
| 2 | g.144403928T>C | CA429218439 | ZEB2 | c.*644A>G (n.*644A>G) c.18A>G (p.Pro6=) c.795A>G (p.Pro265=) n.764A>G c.459A>G (p.Pro153=) c.*512A>G (n.*512A>G) n.895A>G c.-133-5078A>G (n.-133-5078A>G) c.792A>G (p.Pro264=) c.879A>G (p.Pro293=) c.534A>G (p.Pro178=) c.882A>G (p.Pro294=) c.780A>G (p.Pro260=) c.723A>G (p.Pro241=) c.786A>G (p.Pro262=) c.774A>G (p.Pro258=) | |
| 2 | g.144403928T>G | CA429218438 | ZEB2 | c.*644A>C (n.*644A>C) c.18A>C (p.Pro6=) c.795A>C (p.Pro265=) n.764A>C c.459A>C (p.Pro153=) c.*512A>C (n.*512A>C) n.895A>C c.-133-5078A>C (n.-133-5078A>C) c.792A>C (p.Pro264=) c.879A>C (p.Pro293=) c.534A>C (p.Pro178=) c.882A>C (p.Pro294=) c.780A>C (p.Pro260=) c.723A>C (p.Pro241=) c.786A>C (p.Pro262=) c.774A>C (p.Pro258=) | |
| 2 | g.144403929G>A | CA348714573 | ZEB2 | c.*643C>T (n.*643C>T) c.17C>T (p.Pro6Leu) c.794C>T (p.Pro265Leu) n.763C>T c.458C>T (p.Pro153Leu) c.*511C>T (n.*511C>T) n.894C>T c.-133-5079C>T (n.-133-5079C>T) c.791C>T (p.Pro264Leu) c.878C>T (p.Pro293Leu) c.533C>T (p.Pro178Leu) c.881C>T (p.Pro294Leu) c.779C>T (p.Pro260Leu) c.722C>T (p.Pro241Leu) c.785C>T (p.Pro262Leu) c.773C>T (p.Pro258Leu) | dbSNP gnomAD v4 |
| 2 | g.144403929G>C | CA348714574 | ZEB2 | c.*643C>G (n.*643C>G) c.17C>G (p.Pro6Arg) c.794C>G (p.Pro265Arg) n.763C>G c.458C>G (p.Pro153Arg) c.*511C>G (n.*511C>G) n.894C>G c.-133-5079C>G (n.-133-5079C>G) c.791C>G (p.Pro264Arg) c.878C>G (p.Pro293Arg) c.533C>G (p.Pro178Arg) c.881C>G (p.Pro294Arg) c.779C>G (p.Pro260Arg) c.722C>G (p.Pro241Arg) c.785C>G (p.Pro262Arg) c.773C>G (p.Pro258Arg) | |
| 2 | g.144403929G= | CA1294887164 | ZEB2 | c.*643C= (n.*643C=) c.17C= (p.Pro6=) c.794C= (p.Pro265=) n.763C= c.458C= (p.Pro153=) c.*511C= (n.*511C=) n.894C= c.-133-5079C= (n.-133-5079C=) c.791C= (p.Pro264=) c.878C= (p.Pro293=) c.533C= (p.Pro178=) c.881C= (p.Pro294=) c.779C= (p.Pro260=) c.722C= (p.Pro241=) c.785C= (p.Pro262=) c.773C= (p.Pro258=) | |
| 2 | g.144403929G>T | CA348714575 | ZEB2 | c.*643C>A (n.*643C>A) c.17C>A (p.Pro6Gln) c.794C>A (p.Pro265Gln) n.763C>A c.458C>A (p.Pro153Gln) c.*511C>A (n.*511C>A) n.894C>A c.-133-5079C>A (n.-133-5079C>A) c.791C>A (p.Pro264Gln) c.878C>A (p.Pro293Gln) c.533C>A (p.Pro178Gln) c.881C>A (p.Pro294Gln) c.779C>A (p.Pro260Gln) c.722C>A (p.Pro241Gln) c.785C>A (p.Pro262Gln) c.773C>A (p.Pro258Gln) | |
| 2 | g.144403930G>A | CA348714576 | ZEB2 | c.*642C>T (n.*642C>T) c.16C>T (p.Pro6Ser) c.793C>T (p.Pro265Ser) n.762C>T c.457C>T (p.Pro153Ser) c.*510C>T (n.*510C>T) n.893C>T c.-133-5080C>T (n.-133-5080C>T) c.790C>T (p.Pro264Ser) c.877C>T (p.Pro293Ser) c.532C>T (p.Pro178Ser) c.880C>T (p.Pro294Ser) c.778C>T (p.Pro260Ser) c.721C>T (p.Pro241Ser) c.784C>T (p.Pro262Ser) c.772C>T (p.Pro258Ser) | |
| 2 | g.144403930G>C | CA348714578 | ZEB2 | c.*642C>G (n.*642C>G) c.16C>G (p.Pro6Ala) c.793C>G (p.Pro265Ala) n.762C>G c.457C>G (p.Pro153Ala) c.*510C>G (n.*510C>G) n.893C>G c.-133-5080C>G (n.-133-5080C>G) c.790C>G (p.Pro264Ala) c.877C>G (p.Pro293Ala) c.532C>G (p.Pro178Ala) c.880C>G (p.Pro294Ala) c.778C>G (p.Pro260Ala) c.721C>G (p.Pro241Ala) c.784C>G (p.Pro262Ala) c.772C>G (p.Pro258Ala) | |
| 2 | g.144403930G>T | CA348714577 | ZEB2 | c.*642C>A (n.*642C>A) c.16C>A (p.Pro6Thr) c.793C>A (p.Pro265Thr) n.762C>A c.457C>A (p.Pro153Thr) c.*510C>A (n.*510C>A) n.893C>A c.-133-5080C>A (n.-133-5080C>A) c.790C>A (p.Pro264Thr) c.877C>A (p.Pro293Thr) c.532C>A (p.Pro178Thr) c.880C>A (p.Pro294Thr) c.778C>A (p.Pro260Thr) c.721C>A (p.Pro241Thr) c.784C>A (p.Pro262Thr) c.772C>A (p.Pro258Thr) | |
| 2 | g.144403931C>A | CA348714579 | ZEB2 | c.*641G>T (n.*641G>T) c.15G>T (p.Lys5Asn) c.792G>T (p.Lys264Asn) n.761G>T c.456G>T (p.Lys152Asn) c.*509G>T (n.*509G>T) n.892G>T c.-133-5081G>T (n.-133-5081G>T) c.789G>T (p.Lys263Asn) c.876G>T (p.Lys292Asn) c.531G>T (p.Lys177Asn) c.879G>T (p.Lys293Asn) c.777G>T (p.Lys259Asn) c.720G>T (p.Lys240Asn) c.783G>T (p.Lys261Asn) c.771G>T (p.Lys257Asn) | |
| 2 | g.144403931C>G | CA348714580 | ZEB2 | c.*641G>C (n.*641G>C) c.15G>C (p.Lys5Asn) c.792G>C (p.Lys264Asn) n.761G>C c.456G>C (p.Lys152Asn) c.*509G>C (n.*509G>C) n.892G>C c.-133-5081G>C (n.-133-5081G>C) c.789G>C (p.Lys263Asn) c.876G>C (p.Lys292Asn) c.531G>C (p.Lys177Asn) c.879G>C (p.Lys293Asn) c.777G>C (p.Lys259Asn) c.720G>C (p.Lys240Asn) c.783G>C (p.Lys261Asn) c.771G>C (p.Lys257Asn) | |
| 2 | g.144403931C>T | CA429218444 | ZEB2 | c.*641G>A (n.*641G>A) c.15G>A (p.Lys5=) c.792G>A (p.Lys264=) n.761G>A c.456G>A (p.Lys152=) c.*509G>A (n.*509G>A) n.892G>A c.-133-5081G>A (n.-133-5081G>A) c.789G>A (p.Lys263=) c.876G>A (p.Lys292=) c.531G>A (p.Lys177=) c.879G>A (p.Lys293=) c.777G>A (p.Lys259=) c.720G>A (p.Lys240=) c.783G>A (p.Lys261=) c.771G>A (p.Lys257=) | gnomAD v4 |
| 2 | g.144403932T>A | CA348714581 | ZEB2 | c.*640A>T (n.*640A>T) c.14A>T (p.Lys5Met) c.791A>T (p.Lys264Met) n.760A>T c.455A>T (p.Lys152Met) c.*508A>T (n.*508A>T) n.891A>T c.-133-5082A>T (n.-133-5082A>T) c.788A>T (p.Lys263Met) c.875A>T (p.Lys292Met) c.530A>T (p.Lys177Met) c.878A>T (p.Lys293Met) c.776A>T (p.Lys259Met) c.719A>T (p.Lys240Met) c.782A>T (p.Lys261Met) c.770A>T (p.Lys257Met) | |
| 2 | g.144403932T>C | CA348714582 | ZEB2 | c.*640A>G (n.*640A>G) c.14A>G (p.Lys5Arg) c.791A>G (p.Lys264Arg) n.760A>G c.455A>G (p.Lys152Arg) c.*508A>G (n.*508A>G) n.891A>G c.-133-5082A>G (n.-133-5082A>G) c.788A>G (p.Lys263Arg) c.875A>G (p.Lys292Arg) c.530A>G (p.Lys177Arg) c.878A>G (p.Lys293Arg) c.776A>G (p.Lys259Arg) c.719A>G (p.Lys240Arg) c.782A>G (p.Lys261Arg) c.770A>G (p.Lys257Arg) |