Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.139962071_139962080delinsGCCTTTGACT | CA1747341085 | TBXAS1 | c.972_981delinsGCCTTTGACT (p.Arg324=) c.*761_*770delinsGCCTTTGACT (n.*761_*770delinsGCCTTTGACT) c.1110_1119delinsGCCTTTGACT (p.Arg370=) c.975_984delinsGCCTTTGACT (p.Arg325=) c.1113_1122delinsGCCTTTGACT (p.Arg371=) c.771_780delinsGCCTTTGACT (p.Arg257=) n.943_952delinsGCCTTTGACT n.455_464delinsGCCTTTGACT n.337_346delinsGCCTTTGACT c.915_924delinsGCCTTTGACT (p.Arg305=) c.-4294966057_-4294966048delinsGCCTTTGACT c.789_798delinsGCCTTTGACT (p.Arg263=) c.717_726delinsGCCTTTGACT (p.Arg239=) | |
7 | g.139962072C>A | CA369584911 | TBXAS1 | c.973C>A (p.Pro325Thr) c.*762C>A (n.*762C>A) c.1111C>A (p.Pro371Thr) c.976C>A (p.Pro326Thr) c.1114C>A (p.Pro372Thr) c.772C>A (p.Pro258Thr) n.944C>A n.456C>A n.338C>A c.916C>A (p.Pro306Thr) c.-4294966056C>A c.790C>A (p.Pro264Thr) c.718C>A (p.Pro240Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962072C= | CA1747341087 | TBXAS1 | c.973C= (p.Pro325=) c.*762C= (n.*762C=) c.1111C= (p.Pro371=) c.976C= (p.Pro326=) c.1114C= (p.Pro372=) c.772C= (p.Pro258=) n.944C= n.456C= n.338C= c.916C= (p.Pro306=) c.-4294966056C= c.790C= (p.Pro264=) c.718C= (p.Pro240=) | |
7 | g.139962072C>G | CA369584914 | TBXAS1 | c.973C>G (p.Pro325Ala) c.*762C>G (n.*762C>G) c.1111C>G (p.Pro371Ala) c.976C>G (p.Pro326Ala) c.1114C>G (p.Pro372Ala) c.772C>G (p.Pro258Ala) n.944C>G n.456C>G n.338C>G c.916C>G (p.Pro306Ala) c.-4294966056C>G c.790C>G (p.Pro264Ala) c.718C>G (p.Pro240Ala) | |
7 | g.139962072C>T | CA369584916 | TBXAS1 | c.973C>T (p.Pro325Ser) c.*762C>T (n.*762C>T) c.1111C>T (p.Pro371Ser) c.976C>T (p.Pro326Ser) c.1114C>T (p.Pro372Ser) c.772C>T (p.Pro258Ser) n.944C>T n.456C>T n.338C>T c.916C>T (p.Pro306Ser) c.-4294966056C>T c.790C>T (p.Pro264Ser) c.718C>T (p.Pro240Ser) | |
7 | g.139962072_139962080del | CA1747341086 | TBXAS1 | c.973_981del (p.Pro325_Thr327del) c.*762_*770del (n.*762_*770del) c.1111_1119del (p.Pro371_Thr373del) c.976_984del (p.Pro326_Thr328del) c.1114_1122del (p.Pro372_Thr374del) c.772_780del (p.Pro258_Thr260del) n.944_952del n.456_464del n.338_346del c.916_924del (p.Pro306_Thr308del) c.-4294966056_-4294966048del c.790_798del (p.Pro264_Thr266del) c.718_726del (p.Pro240_Thr242del) | dbSNP gnomAD v4 |
7 | g.139962073C>A | CA369584922 | TBXAS1 | c.974C>A (p.Pro325His) c.*763C>A (n.*763C>A) c.1112C>A (p.Pro371His) c.977C>A (p.Pro326His) c.1115C>A (p.Pro372His) c.773C>A (p.Pro258His) n.945C>A n.457C>A n.339C>A c.917C>A (p.Pro306His) c.-4294966055C>A c.791C>A (p.Pro264His) c.719C>A (p.Pro240His) | gnomAD v4 |
7 | g.139962073C>G | CA369584924 | TBXAS1 | c.974C>G (p.Pro325Arg) c.*763C>G (n.*763C>G) c.1112C>G (p.Pro371Arg) c.977C>G (p.Pro326Arg) c.1115C>G (p.Pro372Arg) c.773C>G (p.Pro258Arg) n.945C>G n.457C>G n.339C>G c.917C>G (p.Pro306Arg) c.-4294966055C>G c.791C>G (p.Pro264Arg) c.719C>G (p.Pro240Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962073C>T | CA369584920 | TBXAS1 | c.974C>T (p.Pro325Leu) c.*763C>T (n.*763C>T) c.1112C>T (p.Pro371Leu) c.977C>T (p.Pro326Leu) c.1115C>T (p.Pro372Leu) c.773C>T (p.Pro258Leu) n.945C>T n.457C>T n.339C>T c.917C>T (p.Pro306Leu) c.-4294966055C>T c.791C>T (p.Pro264Leu) c.719C>T (p.Pro240Leu) | |
7 | g.139962074T>A | CA458115451 | TBXAS1 | c.975T>A (p.Pro325=) c.*764T>A (n.*764T>A) c.1113T>A (p.Pro371=) c.978T>A (p.Pro326=) c.1116T>A (p.Pro372=) c.774T>A (p.Pro258=) n.946T>A n.458T>A n.340T>A c.918T>A (p.Pro306=) c.-4294966054T>A c.792T>A (p.Pro264=) c.720T>A (p.Pro240=) | |
7 | g.139962074T>C | CA458115452 | TBXAS1 | c.975T>C (p.Pro325=) c.*764T>C (n.*764T>C) c.1113T>C (p.Pro371=) c.978T>C (p.Pro326=) c.1116T>C (p.Pro372=) c.774T>C (p.Pro258=) n.946T>C n.458T>C n.340T>C c.918T>C (p.Pro306=) c.-4294966054T>C c.792T>C (p.Pro264=) c.720T>C (p.Pro240=) | |
7 | g.139962074T>G | CA458115453 | TBXAS1 | c.975T>G (p.Pro325=) c.*764T>G (n.*764T>G) c.1113T>G (p.Pro371=) c.978T>G (p.Pro326=) c.1116T>G (p.Pro372=) c.774T>G (p.Pro258=) n.946T>G n.458T>G n.340T>G c.918T>G (p.Pro306=) c.-4294966054T>G c.792T>G (p.Pro264=) c.720T>G (p.Pro240=) | |
7 | g.139962075T>A | CA369584926 | TBXAS1 | c.976T>A (p.Leu326Met) c.*765T>A (n.*765T>A) c.1114T>A (p.Leu372Met) c.979T>A (p.Leu327Met) c.1117T>A (p.Leu373Met) c.775T>A (p.Leu259Met) n.947T>A n.459T>A n.341T>A c.919T>A (p.Leu307Met) c.-4294966053T>A c.793T>A (p.Leu265Met) c.721T>A (p.Leu241Met) | |
7 | g.139962075T>C | CA458115454 | TBXAS1 | c.976T>C (p.Leu326=) c.*765T>C (n.*765T>C) c.1114T>C (p.Leu372=) c.979T>C (p.Leu327=) c.1117T>C (p.Leu373=) c.775T>C (p.Leu259=) n.947T>C n.459T>C n.341T>C c.919T>C (p.Leu307=) c.-4294966053T>C c.793T>C (p.Leu265=) c.721T>C (p.Leu241=) | gnomAD v4 |
7 | g.139962075T>G | CA369584929 | TBXAS1 | c.976T>G (p.Leu326Val) c.*765T>G (n.*765T>G) c.1114T>G (p.Leu372Val) c.979T>G (p.Leu327Val) c.1117T>G (p.Leu373Val) c.775T>G (p.Leu259Val) n.947T>G n.459T>G n.341T>G c.919T>G (p.Leu307Val) c.-4294966053T>G c.793T>G (p.Leu265Val) c.721T>G (p.Leu241Val) | |
7 | g.139962076T>A | CA369584933 | TBXAS1 | c.977T>A (p.Leu326Ter) c.*766T>A (n.*766T>A) c.1115T>A (p.Leu372Ter) c.980T>A (p.Leu327Ter) c.1118T>A (p.Leu373Ter) c.776T>A (p.Leu259Ter) n.948T>A n.460T>A n.342T>A c.920T>A (p.Leu307Ter) c.-4294966052T>A c.794T>A (p.Leu265Ter) c.722T>A (p.Leu241Ter) | |
7 | g.139962076T>C | CA369584935 | TBXAS1 | c.977T>C (p.Leu326Ser) c.*766T>C (n.*766T>C) c.1115T>C (p.Leu372Ser) c.980T>C (p.Leu327Ser) c.1118T>C (p.Leu373Ser) c.776T>C (p.Leu259Ser) n.948T>C n.460T>C n.342T>C c.920T>C (p.Leu307Ser) c.-4294966052T>C c.794T>C (p.Leu265Ser) c.722T>C (p.Leu241Ser) | |
7 | g.139962076T>G | CA369584938 | TBXAS1 | c.977T>G (p.Leu326Trp) c.*766T>G (n.*766T>G) c.1115T>G (p.Leu372Trp) c.980T>G (p.Leu327Trp) c.1118T>G (p.Leu373Trp) c.776T>G (p.Leu259Trp) n.948T>G n.460T>G n.342T>G c.920T>G (p.Leu307Trp) c.-4294966052T>G c.794T>G (p.Leu265Trp) c.722T>G (p.Leu241Trp) | |
7 | g.139962078_139962081del | CA2685190568 | TBXAS1 | c.979_982del (p.Thr327TrpfsTer?) c.*768_*771del (n.*768_*771del) c.1117_1120del (p.Thr373TrpfsTer?) c.982_985del (p.Thr328TrpfsTer?) c.1120_1123del (p.Thr374TrpfsTer?) c.778_781del (p.Thr260TrpfsTer?) n.950_953del n.462_465del n.344_347del c.922_925del (p.Thr308TrpfsTer?) c.-4294966050_-4294966047del c.796_799del (p.Thr266TrpfsTer?) c.724_727del (p.Thr242TrpfsTer?) | gnomAD v4 |
7 | g.139962076_139962088delinsTGACTGTGGATGA | CA1747341088 | TBXAS1 | c.977_989delinsTGACTGTGGATGA (p.Leu326=) c.*766_*778delinsTGACTGTGGATGA (n.*766_*778delinsTGACTGTGGATGA) c.1115_1127delinsTGACTGTGGATGA (p.Leu372=) c.980_992delinsTGACTGTGGATGA (p.Leu327=) c.1118_1130delinsTGACTGTGGATGA (p.Leu373=) c.776_788delinsTGACTGTGGATGA (p.Leu259=) n.948_960delinsTGACTGTGGATGA n.460_472delinsTGACTGTGGATGA n.342_354delinsTGACTGTGGATGA c.920_932delinsTGACTGTGGATGA (p.Leu307=) c.-4294966052_-4294966040delinsTGACTGTGGATGA c.794_806delinsTGACTGTGGATGA (p.Leu265=) c.722_734delinsTGACTGTGGATGA (p.Leu241=) | |
7 | g.139962077G>A | CA4511865 | TBXAS1 | c.978G>A (p.Leu326=) c.*767G>A (n.*767G>A) c.1116G>A (p.Leu372=) c.981G>A (p.Leu327=) c.1119G>A (p.Leu373=) c.777G>A (p.Leu259=) n.949G>A n.461G>A n.343G>A c.921G>A (p.Leu307=) c.-4294966051G>A c.795G>A (p.Leu265=) c.723G>A (p.Leu241=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962077G>C | CA369584942 | TBXAS1 | c.978G>C (p.Leu326Phe) c.*767G>C (n.*767G>C) c.1116G>C (p.Leu372Phe) c.981G>C (p.Leu327Phe) c.1119G>C (p.Leu373Phe) c.777G>C (p.Leu259Phe) n.949G>C n.461G>C n.343G>C c.921G>C (p.Leu307Phe) c.-4294966051G>C c.795G>C (p.Leu265Phe) c.723G>C (p.Leu241Phe) | |
7 | g.139962077G= | CA1747341089 | TBXAS1 | c.978G= (p.Leu326=) c.*767G= (n.*767G=) c.1116G= (p.Leu372=) c.981G= (p.Leu327=) c.1119G= (p.Leu373=) c.777G= (p.Leu259=) n.949G= n.461G= n.343G= c.921G= (p.Leu307=) c.-4294966051G= c.795G= (p.Leu265=) c.723G= (p.Leu241=) | |
7 | g.139962077G>T | CA369584943 | TBXAS1 | c.978G>T (p.Leu326Phe) c.*767G>T (n.*767G>T) c.1116G>T (p.Leu372Phe) c.981G>T (p.Leu327Phe) c.1119G>T (p.Leu373Phe) c.777G>T (p.Leu259Phe) n.949G>T n.461G>T n.343G>T c.921G>T (p.Leu307Phe) c.-4294966051G>T c.795G>T (p.Leu265Phe) c.723G>T (p.Leu241Phe) | |
7 | g.139962079_139962090del | CA578624652 | TBXAS1 | c.980_991del (p.Thr327_Glu330del) c.*769_*780del (n.*769_*780del) c.1118_1129del (p.Thr373_Glu376del) c.983_994del (p.Thr328_Glu331del) c.1121_1132del (p.Thr374_Glu377del) c.779_790del (p.Thr260_Glu263del) n.951_962del n.463_474del n.345_356del c.923_934del (p.Thr308_Glu311del) c.-4294966049_-4294966038del c.797_808del (p.Thr266_Glu269del) c.725_736del (p.Thr242_Glu245del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962078A>C | CA369584946 | TBXAS1 | c.979A>C (p.Thr327Pro) c.*768A>C (n.*768A>C) c.1117A>C (p.Thr373Pro) c.982A>C (p.Thr328Pro) c.1120A>C (p.Thr374Pro) c.778A>C (p.Thr260Pro) n.950A>C n.462A>C n.344A>C c.922A>C (p.Thr308Pro) c.-4294966050A>C c.796A>C (p.Thr266Pro) c.724A>C (p.Thr242Pro) | |
7 | g.139962078A>G | CA369584949 | TBXAS1 | c.979A>G (p.Thr327Ala) c.*768A>G (n.*768A>G) c.1117A>G (p.Thr373Ala) c.982A>G (p.Thr328Ala) c.1120A>G (p.Thr374Ala) c.778A>G (p.Thr260Ala) n.950A>G n.462A>G n.344A>G c.922A>G (p.Thr308Ala) c.-4294966050A>G c.796A>G (p.Thr266Ala) c.724A>G (p.Thr242Ala) | |
7 | g.139962078A>T | CA369584951 | TBXAS1 | c.979A>T (p.Thr327Ser) c.*768A>T (n.*768A>T) c.1117A>T (p.Thr373Ser) c.982A>T (p.Thr328Ser) c.1120A>T (p.Thr374Ser) c.778A>T (p.Thr260Ser) n.950A>T n.462A>T n.344A>T c.922A>T (p.Thr308Ser) c.-4294966050A>T c.796A>T (p.Thr266Ser) c.724A>T (p.Thr242Ser) | |
7 | g.139962079C>A | CA369584955 | TBXAS1 | c.980C>A (p.Thr327Asn) c.*769C>A (n.*769C>A) c.1118C>A (p.Thr373Asn) c.983C>A (p.Thr328Asn) c.1121C>A (p.Thr374Asn) c.779C>A (p.Thr260Asn) n.951C>A n.463C>A n.345C>A c.923C>A (p.Thr308Asn) c.-4294966049C>A c.797C>A (p.Thr266Asn) c.725C>A (p.Thr242Asn) | |
7 | g.139962079C>G | CA369584957 | TBXAS1 | c.980C>G (p.Thr327Ser) c.*769C>G (n.*769C>G) c.1118C>G (p.Thr373Ser) c.983C>G (p.Thr328Ser) c.1121C>G (p.Thr374Ser) c.779C>G (p.Thr260Ser) n.951C>G n.463C>G n.345C>G c.923C>G (p.Thr308Ser) c.-4294966049C>G c.797C>G (p.Thr266Ser) c.725C>G (p.Thr242Ser) | |
7 | g.139962079C>T | CA369584959 | TBXAS1 | c.980C>T (p.Thr327Ile) c.*769C>T (n.*769C>T) c.1118C>T (p.Thr373Ile) c.983C>T (p.Thr328Ile) c.1121C>T (p.Thr374Ile) c.779C>T (p.Thr260Ile) n.951C>T n.463C>T n.345C>T c.923C>T (p.Thr308Ile) c.-4294966049C>T c.797C>T (p.Thr266Ile) c.725C>T (p.Thr242Ile) | gnomAD v4 |
7 | g.139962080T>A | CA458115457 | TBXAS1 | c.981T>A (p.Thr327=) c.*770T>A (n.*770T>A) c.1119T>A (p.Thr373=) c.984T>A (p.Thr328=) c.1122T>A (p.Thr374=) c.780T>A (p.Thr260=) n.952T>A n.464T>A n.346T>A c.924T>A (p.Thr308=) c.-4294966048T>A c.798T>A (p.Thr266=) c.726T>A (p.Thr242=) | gnomAD v4 |
7 | g.139962080T>C | CA458115456 | TBXAS1 | c.981T>C (p.Thr327=) c.*770T>C (n.*770T>C) c.1119T>C (p.Thr373=) c.984T>C (p.Thr328=) c.1122T>C (p.Thr374=) c.780T>C (p.Thr260=) n.952T>C n.464T>C n.346T>C c.924T>C (p.Thr308=) c.-4294966048T>C c.798T>C (p.Thr266=) c.726T>C (p.Thr242=) | |
7 | g.139962080T>G | CA458115455 | TBXAS1 | c.981T>G (p.Thr327=) c.*770T>G (n.*770T>G) c.1119T>G (p.Thr373=) c.984T>G (p.Thr328=) c.1122T>G (p.Thr374=) c.780T>G (p.Thr260=) n.952T>G n.464T>G n.346T>G c.924T>G (p.Thr308=) c.-4294966048T>G c.798T>G (p.Thr266=) c.726T>G (p.Thr242=) | |
7 | g.139962081G>A | CA369584968 | TBXAS1 | c.982G>A (p.Val328Met) c.*771G>A (n.*771G>A) c.1120G>A (p.Val374Met) c.985G>A (p.Val329Met) c.1123G>A (p.Val375Met) c.781G>A (p.Val261Met) n.953G>A n.465G>A n.347G>A c.925G>A (p.Val309Met) c.-4294966047G>A c.799G>A (p.Val267Met) c.727G>A (p.Val243Met) | gnomAD v4 |
7 | g.139962081G>C | CA369584965 | TBXAS1 | c.982G>C (p.Val328Leu) c.*771G>C (n.*771G>C) c.1120G>C (p.Val374Leu) c.985G>C (p.Val329Leu) c.1123G>C (p.Val375Leu) c.781G>C (p.Val261Leu) n.953G>C n.465G>C n.347G>C c.925G>C (p.Val309Leu) c.-4294966047G>C c.799G>C (p.Val267Leu) c.727G>C (p.Val243Leu) | |
7 | g.139962081G>T | CA369584963 | TBXAS1 | c.982G>T (p.Val328Leu) c.*771G>T (n.*771G>T) c.1120G>T (p.Val374Leu) c.985G>T (p.Val329Leu) c.1123G>T (p.Val375Leu) c.781G>T (p.Val261Leu) n.953G>T n.465G>T n.347G>T c.925G>T (p.Val309Leu) c.-4294966047G>T c.799G>T (p.Val267Leu) c.727G>T (p.Val243Leu) | |
7 | g.139962082T>A | CA369584972 | TBXAS1 | c.983T>A (p.Val328Glu) c.*772T>A (n.*772T>A) c.1121T>A (p.Val374Glu) c.986T>A (p.Val329Glu) c.1124T>A (p.Val375Glu) c.782T>A (p.Val261Glu) n.954T>A n.466T>A n.348T>A c.926T>A (p.Val309Glu) c.-4294966046T>A c.800T>A (p.Val267Glu) c.728T>A (p.Val243Glu) | |
7 | g.139962082T>C | CA369584974 | TBXAS1 | c.983T>C (p.Val328Ala) c.*772T>C (n.*772T>C) c.1121T>C (p.Val374Ala) c.986T>C (p.Val329Ala) c.1124T>C (p.Val375Ala) c.782T>C (p.Val261Ala) n.954T>C n.466T>C n.348T>C c.926T>C (p.Val309Ala) c.-4294966046T>C c.800T>C (p.Val267Ala) c.728T>C (p.Val243Ala) | |
7 | g.139962082T>G | CA369584976 | TBXAS1 | c.983T>G (p.Val328Gly) c.*772T>G (n.*772T>G) c.1121T>G (p.Val374Gly) c.986T>G (p.Val329Gly) c.1124T>G (p.Val375Gly) c.782T>G (p.Val261Gly) n.954T>G n.466T>G n.348T>G c.926T>G (p.Val309Gly) c.-4294966046T>G c.800T>G (p.Val267Gly) c.728T>G (p.Val243Gly) | |
7 | g.139962083G>A | CA458115458 | TBXAS1 | c.984G>A (p.Val328=) c.*773G>A (n.*773G>A) c.1122G>A (p.Val374=) c.987G>A (p.Val329=) c.1125G>A (p.Val375=) c.783G>A (p.Val261=) n.955G>A n.467G>A n.349G>A c.927G>A (p.Val309=) c.-4294966045G>A c.801G>A (p.Val267=) c.729G>A (p.Val243=) | gnomAD v4 |
7 | g.139962083G>C | CA458115459 | TBXAS1 | c.984G>C (p.Val328=) c.*773G>C (n.*773G>C) c.1122G>C (p.Val374=) c.987G>C (p.Val329=) c.1125G>C (p.Val375=) c.783G>C (p.Val261=) n.955G>C n.467G>C n.349G>C c.927G>C (p.Val309=) c.-4294966045G>C c.801G>C (p.Val267=) c.729G>C (p.Val243=) | |
7 | g.139962083G= | CA1747341090 | TBXAS1 | c.984G= (p.Val328=) c.*773G= (n.*773G=) c.1122G= (p.Val374=) c.987G= (p.Val329=) c.1125G= (p.Val375=) c.783G= (p.Val261=) n.955G= n.467G= n.349G= c.927G= (p.Val309=) c.-4294966045G= c.801G= (p.Val267=) c.729G= (p.Val243=) | |
7 | g.139962083G>T | CA458115460 | TBXAS1 | c.984G>T (p.Val328=) c.*773G>T (n.*773G>T) c.1122G>T (p.Val374=) c.987G>T (p.Val329=) c.1125G>T (p.Val375=) c.783G>T (p.Val261=) n.955G>T n.467G>T n.349G>T c.927G>T (p.Val309=) c.-4294966045G>T c.801G>T (p.Val267=) c.729G>T (p.Val243=) | |
7 | g.139962083_139962084insA | CA1747341091 | TBXAS1 | c.984_985insA (p.Asp329ArgfsTer2) c.*773_*774insA (n.*773_*774insA) c.1122_1123insA (p.Asp375ArgfsTer2) c.987_988insA (p.Asp330ArgfsTer2) c.1125_1126insA (p.Asp376ArgfsTer2) c.783_784insA (p.Asp262ArgfsTer2) n.955_956insA n.467_468insA n.349_350insA c.927_928insA (p.Asp310ArgfsTer2) c.-4294966045_-4294966044insA c.801_802insA (p.Asp268ArgfsTer2) c.729_730insA (p.Asp244ArgfsTer2) | dbSNP gnomAD v4 |
7 | g.139962084G>A | CA369584978 | TBXAS1 | c.985G>A (p.Asp329Asn) c.*774G>A (n.*774G>A) c.1123G>A (p.Asp375Asn) c.988G>A (p.Asp330Asn) c.1126G>A (p.Asp376Asn) c.784G>A (p.Asp262Asn) n.956G>A n.468G>A n.350G>A c.928G>A (p.Asp310Asn) c.-4294966044G>A c.802G>A (p.Asp268Asn) c.730G>A (p.Asp244Asn) | |
7 | g.139962084G>C | CA369584981 | TBXAS1 | c.985G>C (p.Asp329His) c.*774G>C (n.*774G>C) c.1123G>C (p.Asp375His) c.988G>C (p.Asp330His) c.1126G>C (p.Asp376His) c.784G>C (p.Asp262His) n.956G>C n.468G>C n.350G>C c.928G>C (p.Asp310His) c.-4294966044G>C c.802G>C (p.Asp268His) c.730G>C (p.Asp244His) | |
7 | g.139962084G>T | CA369584984 | TBXAS1 | c.985G>T (p.Asp329Tyr) c.*774G>T (n.*774G>T) c.1123G>T (p.Asp375Tyr) c.988G>T (p.Asp330Tyr) c.1126G>T (p.Asp376Tyr) c.784G>T (p.Asp262Tyr) n.956G>T n.468G>T n.350G>T c.928G>T (p.Asp310Tyr) c.-4294966044G>T c.802G>T (p.Asp268Tyr) c.730G>T (p.Asp244Tyr) | |
7 | g.139962085A>C | CA369584988 | TBXAS1 | c.986A>C (p.Asp329Ala) c.*775A>C (n.*775A>C) c.1124A>C (p.Asp375Ala) c.989A>C (p.Asp330Ala) c.1127A>C (p.Asp376Ala) c.785A>C (p.Asp262Ala) n.957A>C n.469A>C n.351A>C c.929A>C (p.Asp310Ala) c.-4294966043A>C c.803A>C (p.Asp268Ala) c.731A>C (p.Asp244Ala) | |
7 | g.139962085A>G | CA369584990 | TBXAS1 | c.986A>G (p.Asp329Gly) c.*775A>G (n.*775A>G) c.1124A>G (p.Asp375Gly) c.989A>G (p.Asp330Gly) c.1127A>G (p.Asp376Gly) c.785A>G (p.Asp262Gly) n.957A>G n.469A>G n.351A>G c.929A>G (p.Asp310Gly) c.-4294966043A>G c.803A>G (p.Asp268Gly) c.731A>G (p.Asp244Gly) | |
7 | g.139962085A>T | CA369584993 | TBXAS1 | c.986A>T (p.Asp329Val) c.*775A>T (n.*775A>T) c.1124A>T (p.Asp375Val) c.989A>T (p.Asp330Val) c.1127A>T (p.Asp376Val) c.785A>T (p.Asp262Val) n.957A>T n.469A>T n.351A>T c.929A>T (p.Asp310Val) c.-4294966043A>T c.803A>T (p.Asp268Val) c.731A>T (p.Asp244Val) | gnomAD v4 |
7 | g.139962086T>A | CA369584996 | TBXAS1 | c.987T>A (p.Asp329Glu) c.*776T>A (n.*776T>A) c.1125T>A (p.Asp375Glu) c.990T>A (p.Asp330Glu) c.1128T>A (p.Asp376Glu) c.786T>A (p.Asp262Glu) n.958T>A n.470T>A n.352T>A c.930T>A (p.Asp310Glu) c.-4294966042T>A c.804T>A (p.Asp268Glu) c.732T>A (p.Asp244Glu) | |
7 | g.139962086T>C | CA458115461 | TBXAS1 | c.987T>C (p.Asp329=) c.*776T>C (n.*776T>C) c.1125T>C (p.Asp375=) c.990T>C (p.Asp330=) c.1128T>C (p.Asp376=) c.786T>C (p.Asp262=) n.958T>C n.470T>C n.352T>C c.930T>C (p.Asp310=) c.-4294966042T>C c.804T>C (p.Asp268=) c.732T>C (p.Asp244=) | |
7 | g.139962086T>G | CA369584998 | TBXAS1 | c.987T>G (p.Asp329Glu) c.*776T>G (n.*776T>G) c.1125T>G (p.Asp375Glu) c.990T>G (p.Asp330Glu) c.1128T>G (p.Asp376Glu) c.786T>G (p.Asp262Glu) n.958T>G n.470T>G n.352T>G c.930T>G (p.Asp310Glu) c.-4294966042T>G c.804T>G (p.Asp268Glu) c.732T>G (p.Asp244Glu) | gnomAD v4 |
7 | g.139962087G>A | CA369585001 | TBXAS1 | c.988G>A (p.Glu330Lys) c.*777G>A (n.*777G>A) c.1126G>A (p.Glu376Lys) c.991G>A (p.Glu331Lys) c.1129G>A (p.Glu377Lys) c.787G>A (p.Glu263Lys) n.959G>A n.471G>A n.353G>A c.931G>A (p.Glu311Lys) c.-4294966041G>A c.805G>A (p.Glu269Lys) c.733G>A (p.Glu245Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139962087G>C | CA369585003 | TBXAS1 | c.988G>C (p.Glu330Gln) c.*777G>C (n.*777G>C) c.1126G>C (p.Glu376Gln) c.991G>C (p.Glu331Gln) c.1129G>C (p.Glu377Gln) c.787G>C (p.Glu263Gln) n.959G>C n.471G>C n.353G>C c.931G>C (p.Glu311Gln) c.-4294966041G>C c.805G>C (p.Glu269Gln) c.733G>C (p.Glu245Gln) | |
7 | g.139962087G= | CA1747341092 | TBXAS1 | c.988G= (p.Glu330=) c.*777G= (n.*777G=) c.1126G= (p.Glu376=) c.991G= (p.Glu331=) c.1129G= (p.Glu377=) c.787G= (p.Glu263=) n.959G= n.471G= n.353G= c.931G= (p.Glu311=) c.-4294966041G= c.805G= (p.Glu269=) c.733G= (p.Glu245=) | |
7 | g.139962087G>T | CA369585006 | TBXAS1 | c.988G>T (p.Glu330Ter) c.*777G>T (n.*777G>T) c.1126G>T (p.Glu376Ter) c.991G>T (p.Glu331Ter) c.1129G>T (p.Glu377Ter) c.787G>T (p.Glu263Ter) n.959G>T n.471G>T n.353G>T c.931G>T (p.Glu311Ter) c.-4294966041G>T c.805G>T (p.Glu269Ter) c.733G>T (p.Glu245Ter) | |
7 | g.139962088A= | CA1747341093 | TBXAS1 | c.989A= (p.Glu330=) c.*778A= (n.*778A=) c.1127A= (p.Glu376=) c.992A= (p.Glu331=) c.1130A= (p.Glu377=) c.788A= (p.Glu263=) n.960A= n.472A= n.354A= c.932A= (p.Glu311=) c.-4294966040A= c.806A= (p.Glu269=) c.734A= (p.Glu245=) | |
7 | g.139962088A>C | CA369585011 | TBXAS1 | c.989A>C (p.Glu330Ala) c.*778A>C (n.*778A>C) c.1127A>C (p.Glu376Ala) c.992A>C (p.Glu331Ala) c.1130A>C (p.Glu377Ala) c.788A>C (p.Glu263Ala) n.960A>C n.472A>C n.354A>C c.932A>C (p.Glu311Ala) c.-4294966040A>C c.806A>C (p.Glu269Ala) c.734A>C (p.Glu245Ala) | |
7 | g.139962088A>G | CA369585013 | TBXAS1 | c.989A>G (p.Glu330Gly) c.*778A>G (n.*778A>G) c.1127A>G (p.Glu376Gly) c.992A>G (p.Glu331Gly) c.1130A>G (p.Glu377Gly) c.788A>G (p.Glu263Gly) n.960A>G n.472A>G n.354A>G c.932A>G (p.Glu311Gly) c.-4294966040A>G c.806A>G (p.Glu269Gly) c.734A>G (p.Glu245Gly) | |
7 | g.139962088A>T | CA369585008 | TBXAS1 | c.989A>T (p.Glu330Val) c.*778A>T (n.*778A>T) c.1127A>T (p.Glu376Val) c.992A>T (p.Glu331Val) c.1130A>T (p.Glu377Val) c.788A>T (p.Glu263Val) n.960A>T n.472A>T n.354A>T c.932A>T (p.Glu311Val) c.-4294966040A>T c.806A>T (p.Glu269Val) c.734A>T (p.Glu245Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962089G>A | CA458115462 | TBXAS1 | c.990G>A (p.Glu330=) c.*779G>A (n.*779G>A) c.1128G>A (p.Glu376=) c.993G>A (p.Glu331=) c.1131G>A (p.Glu377=) c.789G>A (p.Glu263=) n.961G>A n.473G>A n.355G>A c.933G>A (p.Glu311=) c.-4294966039G>A c.807G>A (p.Glu269=) c.735G>A (p.Glu245=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962089G>C | CA369585018 | TBXAS1 | c.990G>C (p.Glu330Asp) c.*779G>C (n.*779G>C) c.1128G>C (p.Glu376Asp) c.993G>C (p.Glu331Asp) c.1131G>C (p.Glu377Asp) c.789G>C (p.Glu263Asp) n.961G>C n.473G>C n.355G>C c.933G>C (p.Glu311Asp) c.-4294966039G>C c.807G>C (p.Glu269Asp) c.735G>C (p.Glu245Asp) | |
7 | g.139962089G= | CA1747341094 | TBXAS1 | c.990G= (p.Glu330=) c.*779G= (n.*779G=) c.1128G= (p.Glu376=) c.993G= (p.Glu331=) c.1131G= (p.Glu377=) c.789G= (p.Glu263=) n.961G= n.473G= n.355G= c.933G= (p.Glu311=) c.-4294966039G= c.807G= (p.Glu269=) c.735G= (p.Glu245=) | |
7 | g.139962089G>T | CA369585016 | TBXAS1 | c.990G>T (p.Glu330Asp) c.*779G>T (n.*779G>T) c.1128G>T (p.Glu376Asp) c.993G>T (p.Glu331Asp) c.1131G>T (p.Glu377Asp) c.789G>T (p.Glu263Asp) n.961G>T n.473G>T n.355G>T c.933G>T (p.Glu311Asp) c.-4294966039G>T c.807G>T (p.Glu269Asp) c.735G>T (p.Glu245Asp) | |
7 | g.139962090A= | CA1747341095 | TBXAS1 | c.991A= (p.Ile331=) c.*780A= (n.*780A=) c.1129A= (p.Ile377=) c.994A= (p.Ile332=) c.1132A= (p.Ile378=) c.790A= (p.Ile264=) n.962A= n.474A= n.356A= c.934A= (p.Ile312=) c.-4294966038A= c.808A= (p.Ile270=) c.736A= (p.Ile246=) | |
7 | g.139962090A>C | CA369585024 | TBXAS1 | c.991A>C (p.Ile331Leu) c.*780A>C (n.*780A>C) c.1129A>C (p.Ile377Leu) c.994A>C (p.Ile332Leu) c.1132A>C (p.Ile378Leu) c.790A>C (p.Ile264Leu) n.962A>C n.474A>C n.356A>C c.934A>C (p.Ile312Leu) c.-4294966038A>C c.808A>C (p.Ile270Leu) c.736A>C (p.Ile246Leu) | |
7 | g.139962090A>G | CA369585021 | TBXAS1 | c.991A>G (p.Ile331Val) c.*780A>G (n.*780A>G) c.1129A>G (p.Ile377Val) c.994A>G (p.Ile332Val) c.1132A>G (p.Ile378Val) c.790A>G (p.Ile264Val) n.962A>G n.474A>G n.356A>G c.934A>G (p.Ile312Val) c.-4294966038A>G c.808A>G (p.Ile270Val) c.736A>G (p.Ile246Val) | |
7 | g.139962090A>T | CA4511866 | TBXAS1 | c.991A>T (p.Ile331Phe) c.*780A>T (n.*780A>T) c.1129A>T (p.Ile377Phe) c.994A>T (p.Ile332Phe) c.1132A>T (p.Ile378Phe) c.790A>T (p.Ile264Phe) n.962A>T n.474A>T n.356A>T c.934A>T (p.Ile312Phe) c.-4294966038A>T c.808A>T (p.Ile270Phe) c.736A>T (p.Ile246Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962091T>A | CA369585030 | TBXAS1 | c.992T>A (p.Ile331Asn) c.*781T>A (n.*781T>A) c.1130T>A (p.Ile377Asn) c.995T>A (p.Ile332Asn) c.1133T>A (p.Ile378Asn) c.791T>A (p.Ile264Asn) n.963T>A n.475T>A n.357T>A c.935T>A (p.Ile312Asn) c.-4294966037T>A c.809T>A (p.Ile270Asn) c.737T>A (p.Ile246Asn) | |
7 | g.139962091T>C | CA4511867 | TBXAS1 | c.992T>C (p.Ile331Thr) c.*781T>C (n.*781T>C) c.1130T>C (p.Ile377Thr) c.995T>C (p.Ile332Thr) c.1133T>C (p.Ile378Thr) c.791T>C (p.Ile264Thr) n.963T>C n.475T>C n.357T>C c.935T>C (p.Ile312Thr) c.-4294966037T>C c.809T>C (p.Ile270Thr) c.737T>C (p.Ile246Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962091T>G | CA369585033 | TBXAS1 | c.992T>G (p.Ile331Ser) c.*781T>G (n.*781T>G) c.1130T>G (p.Ile377Ser) c.995T>G (p.Ile332Ser) c.1133T>G (p.Ile378Ser) c.791T>G (p.Ile264Ser) n.963T>G n.475T>G n.357T>G c.935T>G (p.Ile312Ser) c.-4294966037T>G c.809T>G (p.Ile270Ser) c.737T>G (p.Ile246Ser) | |
7 | g.139962091T= | CA1747341096 | TBXAS1 | c.992T= (p.Ile331=) c.*781T= (n.*781T=) c.1130T= (p.Ile377=) c.995T= (p.Ile332=) c.1133T= (p.Ile378=) c.791T= (p.Ile264=) n.963T= n.475T= n.357T= c.935T= (p.Ile312=) c.-4294966037T= c.809T= (p.Ile270=) c.737T= (p.Ile246=) | |
7 | g.139962092T>A | CA458115463 | TBXAS1 | c.993T>A (p.Ile331=) c.*782T>A (n.*782T>A) c.1131T>A (p.Ile377=) c.996T>A (p.Ile332=) c.1134T>A (p.Ile378=) c.792T>A (p.Ile264=) n.964T>A n.476T>A n.358T>A c.936T>A (p.Ile312=) c.-4294966036T>A c.810T>A (p.Ile270=) c.738T>A (p.Ile246=) | |
7 | g.139962092T>C | CA458115464 | TBXAS1 | c.993T>C (p.Ile331=) c.*782T>C (n.*782T>C) c.1131T>C (p.Ile377=) c.996T>C (p.Ile332=) c.1134T>C (p.Ile378=) c.792T>C (p.Ile264=) n.964T>C n.476T>C n.358T>C c.936T>C (p.Ile312=) c.-4294966036T>C c.810T>C (p.Ile270=) c.738T>C (p.Ile246=) | |
7 | g.139962092T>G | CA369585038 | TBXAS1 | c.993T>G (p.Ile331Met) c.*782T>G (n.*782T>G) c.1131T>G (p.Ile377Met) c.996T>G (p.Ile332Met) c.1134T>G (p.Ile378Met) c.792T>G (p.Ile264Met) n.964T>G n.476T>G n.358T>G c.936T>G (p.Ile312Met) c.-4294966036T>G c.810T>G (p.Ile270Met) c.738T>G (p.Ile246Met) | |
7 | g.139962093G>A | CA369585048 | TBXAS1 | c.994G>A (p.Val332Met) c.*783G>A (n.*783G>A) c.1132G>A (p.Val378Met) c.997G>A (p.Val333Met) c.1135G>A (p.Val379Met) c.793G>A (p.Val265Met) n.965G>A n.477G>A n.359G>A c.937G>A (p.Val313Met) c.-4294966035G>A c.811G>A (p.Val271Met) c.739G>A (p.Val247Met) | |
7 | g.139962093G>C | CA369585042 | TBXAS1 | c.994G>C (p.Val332Leu) c.*783G>C (n.*783G>C) c.1132G>C (p.Val378Leu) c.997G>C (p.Val333Leu) c.1135G>C (p.Val379Leu) c.793G>C (p.Val265Leu) n.965G>C n.477G>C n.359G>C c.937G>C (p.Val313Leu) c.-4294966035G>C c.811G>C (p.Val271Leu) c.739G>C (p.Val247Leu) | |
7 | g.139962093G>T | CA369585046 | TBXAS1 | c.994G>T (p.Val332Leu) c.*783G>T (n.*783G>T) c.1132G>T (p.Val378Leu) c.997G>T (p.Val333Leu) c.1135G>T (p.Val379Leu) c.793G>T (p.Val265Leu) n.965G>T n.477G>T n.359G>T c.937G>T (p.Val313Leu) c.-4294966035G>T c.811G>T (p.Val271Leu) c.739G>T (p.Val247Leu) | |
7 | g.139962094T>A | CA369585050 | TBXAS1 | c.995T>A (p.Val332Glu) c.*784T>A (n.*784T>A) c.1133T>A (p.Val378Glu) c.998T>A (p.Val333Glu) c.1136T>A (p.Val379Glu) c.794T>A (p.Val265Glu) n.966T>A n.478T>A n.360T>A c.938T>A (p.Val313Glu) c.-4294966034T>A c.812T>A (p.Val271Glu) c.740T>A (p.Val247Glu) | |
7 | g.139962094T>C | CA369585053 | TBXAS1 | c.995T>C (p.Val332Ala) c.*784T>C (n.*784T>C) c.1133T>C (p.Val378Ala) c.998T>C (p.Val333Ala) c.1136T>C (p.Val379Ala) c.794T>C (p.Val265Ala) n.966T>C n.478T>C n.360T>C c.938T>C (p.Val313Ala) c.-4294966034T>C c.812T>C (p.Val271Ala) c.740T>C (p.Val247Ala) | |
7 | g.139962094T>G | CA369585056 | TBXAS1 | c.995T>G (p.Val332Gly) c.*784T>G (n.*784T>G) c.1133T>G (p.Val378Gly) c.998T>G (p.Val333Gly) c.1136T>G (p.Val379Gly) c.794T>G (p.Val265Gly) n.966T>G n.478T>G n.360T>G c.938T>G (p.Val313Gly) c.-4294966034T>G c.812T>G (p.Val271Gly) c.740T>G (p.Val247Gly) | |
7 | g.139962094_139962095delinsTG | CA1747341097 | TBXAS1 | c.995_996delinsTG (p.Val332=) c.*784_*785delinsTG (n.*784_*785delinsTG) c.1133_1134delinsTG (p.Val378=) c.998_999delinsTG (p.Val333=) c.1136_1137delinsTG (p.Val379=) c.794_795delinsTG (p.Val265=) n.966_967delinsTG n.478_479delinsTG n.360_361delinsTG c.938_939delinsTG (p.Val313=) c.-4294966034_-4294966033delinsTG c.812_813delinsTG (p.Val271=) c.740_741delinsTG (p.Val247=) | |
7 | g.139962095G>A | CA458115465 | TBXAS1 | c.996G>A (p.Val332=) c.*785G>A (n.*785G>A) c.1134G>A (p.Val378=) c.999G>A (p.Val333=) c.1137G>A (p.Val379=) c.795G>A (p.Val265=) n.967G>A n.479G>A n.361G>A c.939G>A (p.Val313=) c.-4294966033G>A c.813G>A (p.Val271=) c.741G>A (p.Val247=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962095G>C | CA458115466 | TBXAS1 | c.996G>C (p.Val332=) c.*785G>C (n.*785G>C) c.1134G>C (p.Val378=) c.999G>C (p.Val333=) c.1137G>C (p.Val379=) c.795G>C (p.Val265=) n.967G>C n.479G>C n.361G>C c.939G>C (p.Val313=) c.-4294966033G>C c.813G>C (p.Val271=) c.741G>C (p.Val247=) | |
7 | g.139962095G= | CA1747341098 | TBXAS1 | c.996G= (p.Val332=) c.*785G= (n.*785G=) c.1134G= (p.Val378=) c.999G= (p.Val333=) c.1137G= (p.Val379=) c.795G= (p.Val265=) n.967G= n.479G= n.361G= c.939G= (p.Val313=) c.-4294966033G= c.813G= (p.Val271=) c.741G= (p.Val247=) | |
7 | g.139962095G>T | CA458115467 | TBXAS1 | c.996G>T (p.Val332=) c.*785G>T (n.*785G>T) c.1134G>T (p.Val378=) c.999G>T (p.Val333=) c.1137G>T (p.Val379=) c.795G>T (p.Val265=) n.967G>T n.479G>T n.361G>T c.939G>T (p.Val313=) c.-4294966033G>T c.813G>T (p.Val271=) c.741G>T (p.Val247=) | |
7 | g.139962097del | CA578624653 | TBXAS1 | c.998del (p.Gly333AlafsTer?) c.*787del (n.*787del) c.1136del (p.Gly379AlafsTer?) c.1001del (p.Gly334AlafsTer?) c.1139del (p.Gly380AlafsTer?) c.797del (p.Gly266AlafsTer?) n.969del n.481del n.363del c.941del (p.Gly314AlafsTer?) c.-4294966031del c.815del (p.Gly272AlafsTer?) c.743del (p.Gly248AlafsTer?) | dbSNP gnomAD v2 |
7 | g.139962096G>A | CA369585059 | TBXAS1 | c.997G>A (p.Gly333Ser) c.*786G>A (n.*786G>A) c.1135G>A (p.Gly379Ser) c.1000G>A (p.Gly334Ser) c.1138G>A (p.Gly380Ser) c.796G>A (p.Gly266Ser) n.968G>A n.480G>A n.362G>A c.940G>A (p.Gly314Ser) c.-4294966032G>A c.814G>A (p.Gly272Ser) c.742G>A (p.Gly248Ser) | |
7 | g.139962096G>C | CA369585061 | TBXAS1 | c.997G>C (p.Gly333Arg) c.*786G>C (n.*786G>C) c.1135G>C (p.Gly379Arg) c.1000G>C (p.Gly334Arg) c.1138G>C (p.Gly380Arg) c.796G>C (p.Gly266Arg) n.968G>C n.480G>C n.362G>C c.940G>C (p.Gly314Arg) c.-4294966032G>C c.814G>C (p.Gly272Arg) c.742G>C (p.Gly248Arg) | |
7 | g.139962096G>T | CA369585063 | TBXAS1 | c.997G>T (p.Gly333Cys) c.*786G>T (n.*786G>T) c.1135G>T (p.Gly379Cys) c.1000G>T (p.Gly334Cys) c.1138G>T (p.Gly380Cys) c.796G>T (p.Gly266Cys) n.968G>T n.480G>T n.362G>T c.940G>T (p.Gly314Cys) c.-4294966032G>T c.814G>T (p.Gly272Cys) c.742G>T (p.Gly248Cys) | |
7 | g.139962100_139962104del | CA2685190569 | TBXAS1 | c.1001_1005del (p.Gln334LeufsTer9) c.*790_*794del (n.*790_*794del) c.1139_1143del (p.Gln380LeufsTer9) c.1004_1008del (p.Gln335LeufsTer9) c.1142_1146del (p.Gln381LeufsTer9) c.800_804del (p.Gln267LeufsTer9) n.972_976del n.484_488del n.366_370del c.944_948del (p.Gln315LeufsTer9) c.-4294966028_-4294966024del c.818_822del (p.Gln273LeufsTer9) c.746_750del (p.Gln249LeufsTer9) | gnomAD v4 |
7 | g.139962097G>A | CA369585067 | TBXAS1 | c.998G>A (p.Gly333Asp) c.*787G>A (n.*787G>A) c.1136G>A (p.Gly379Asp) c.1001G>A (p.Gly334Asp) c.1139G>A (p.Gly380Asp) c.797G>A (p.Gly266Asp) n.969G>A n.481G>A n.363G>A c.941G>A (p.Gly314Asp) c.-4294966031G>A c.815G>A (p.Gly272Asp) c.743G>A (p.Gly248Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962097G>C | CA369585069 | TBXAS1 | c.998G>C (p.Gly333Ala) c.*787G>C (n.*787G>C) c.1136G>C (p.Gly379Ala) c.1001G>C (p.Gly334Ala) c.1139G>C (p.Gly380Ala) c.797G>C (p.Gly266Ala) n.969G>C n.481G>C n.363G>C c.941G>C (p.Gly314Ala) c.-4294966031G>C c.815G>C (p.Gly272Ala) c.743G>C (p.Gly248Ala) | |
7 | g.139962097G= | CA1747341099 | TBXAS1 | c.998G= (p.Gly333=) c.*787G= (n.*787G=) c.1136G= (p.Gly379=) c.1001G= (p.Gly334=) c.1139G= (p.Gly380=) c.797G= (p.Gly266=) n.969G= n.481G= n.363G= c.941G= (p.Gly314=) c.-4294966031G= c.815G= (p.Gly272=) c.743G= (p.Gly248=) | |
7 | g.139962097G>T | CA4511868 | TBXAS1 | c.998G>T (p.Gly333Val) c.*787G>T (n.*787G>T) c.1136G>T (p.Gly379Val) c.1001G>T (p.Gly334Val) c.1139G>T (p.Gly380Val) c.797G>T (p.Gly266Val) n.969G>T n.481G>T n.363G>T c.941G>T (p.Gly314Val) c.-4294966031G>T c.815G>T (p.Gly272Val) c.743G>T (p.Gly248Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962098C>A | CA458115498 | TBXAS1 | c.999C>A (p.Gly333=) c.*788C>A (n.*788C>A) c.1137C>A (p.Gly379=) c.1002C>A (p.Gly334=) c.1140C>A (p.Gly380=) c.798C>A (p.Gly266=) n.970C>A n.482C>A n.364C>A c.942C>A (p.Gly314=) c.-4294966030C>A c.816C>A (p.Gly272=) c.744C>A (p.Gly248=) | |
7 | g.139962098C= | CA1747341100 | TBXAS1 | c.999C= (p.Gly333=) c.*788C= (n.*788C=) c.1137C= (p.Gly379=) c.1002C= (p.Gly334=) c.1140C= (p.Gly380=) c.798C= (p.Gly266=) n.970C= n.482C= n.364C= c.942C= (p.Gly314=) c.-4294966030C= c.816C= (p.Gly272=) c.744C= (p.Gly248=) | |
7 | g.139962098C>G | CA458115499 | TBXAS1 | c.999C>G (p.Gly333=) c.*788C>G (n.*788C>G) c.1137C>G (p.Gly379=) c.1002C>G (p.Gly334=) c.1140C>G (p.Gly380=) c.798C>G (p.Gly266=) n.970C>G n.482C>G n.364C>G c.942C>G (p.Gly314=) c.-4294966030C>G c.816C>G (p.Gly272=) c.744C>G (p.Gly248=) | |
7 | g.139962098C>T | CA4511869 | TBXAS1 | c.999C>T (p.Gly333=) c.*788C>T (n.*788C>T) c.1137C>T (p.Gly379=) c.1002C>T (p.Gly334=) c.1140C>T (p.Gly380=) c.798C>T (p.Gly266=) n.970C>T n.482C>T n.364C>T c.942C>T (p.Gly314=) c.-4294966030C>T c.816C>T (p.Gly272=) c.744C>T (p.Gly248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139962099C>A | CA369585082 | TBXAS1 | c.1000C>A (p.Gln334Lys) c.*789C>A (n.*789C>A) c.1138C>A (p.Gln380Lys) c.1003C>A (p.Gln335Lys) c.1141C>A (p.Gln381Lys) c.799C>A (p.Gln267Lys) n.971C>A n.483C>A n.365C>A c.943C>A (p.Gln315Lys) c.-4294966029C>A c.817C>A (p.Gln273Lys) c.745C>A (p.Gln249Lys) | |
7 | g.139962099C= | CA1747341101 | TBXAS1 | c.1000C= (p.Gln334=) c.*789C= (n.*789C=) c.1138C= (p.Gln380=) c.1003C= (p.Gln335=) c.1141C= (p.Gln381=) c.799C= (p.Gln267=) n.971C= n.483C= n.365C= c.943C= (p.Gln315=) c.-4294966029C= c.817C= (p.Gln273=) c.745C= (p.Gln249=) | |
7 | g.139962099C>G | CA369585078 | TBXAS1 | c.1000C>G (p.Gln334Glu) c.*789C>G (n.*789C>G) c.1138C>G (p.Gln380Glu) c.1003C>G (p.Gln335Glu) c.1141C>G (p.Gln381Glu) c.799C>G (p.Gln267Glu) n.971C>G n.483C>G n.365C>G c.943C>G (p.Gln315Glu) c.-4294966029C>G c.817C>G (p.Gln273Glu) c.745C>G (p.Gln249Glu) | |
7 | g.139962099C>T | CA167953448 | TBXAS1 | c.1000C>T (p.Gln334Ter) c.*789C>T (n.*789C>T) c.1138C>T (p.Gln380Ter) c.1003C>T (p.Gln335Ter) c.1141C>T (p.Gln381Ter) c.799C>T (p.Gln267Ter) n.971C>T n.483C>T n.365C>T c.943C>T (p.Gln315Ter) c.-4294966029C>T c.817C>T (p.Gln273Ter) c.745C>T (p.Gln249Ter) | dbSNP |
7 | g.139962101_139962108del | CA2579039959 | TBXAS1 | c.1002_1009del (p.Gln334HisfsTer8) c.*791_*798del (n.*791_*798del) c.1140_1147del (p.Gln380HisfsTer8) c.1005_1012del (p.Gln335HisfsTer8) c.1143_1150del (p.Gln381HisfsTer8) c.801_808del (p.Gln267HisfsTer8) n.973_980del n.485_492del n.367_374del c.945_952del (p.Gln315HisfsTer8) c.-4294966027_-4294966020del c.819_826del (p.Gln273HisfsTer8) c.747_754del (p.Gln249HisfsTer8) | |
7 | g.139962100A>C | CA369585086 | TBXAS1 | c.1001A>C (p.Gln334Pro) c.*790A>C (n.*790A>C) c.1139A>C (p.Gln380Pro) c.1004A>C (p.Gln335Pro) c.1142A>C (p.Gln381Pro) c.800A>C (p.Gln267Pro) n.972A>C n.484A>C n.366A>C c.944A>C (p.Gln315Pro) c.-4294966028A>C c.818A>C (p.Gln273Pro) c.746A>C (p.Gln249Pro) | |
7 | g.139962100A>G | CA369585088 | TBXAS1 | c.1001A>G (p.Gln334Arg) c.*790A>G (n.*790A>G) c.1139A>G (p.Gln380Arg) c.1004A>G (p.Gln335Arg) c.1142A>G (p.Gln381Arg) c.800A>G (p.Gln267Arg) n.972A>G n.484A>G n.366A>G c.944A>G (p.Gln315Arg) c.-4294966028A>G c.818A>G (p.Gln273Arg) c.746A>G (p.Gln249Arg) | |
7 | g.139962100A>T | CA369585091 | TBXAS1 | c.1001A>T (p.Gln334Leu) c.*790A>T (n.*790A>T) c.1139A>T (p.Gln380Leu) c.1004A>T (p.Gln335Leu) c.1142A>T (p.Gln381Leu) c.800A>T (p.Gln267Leu) n.972A>T n.484A>T n.366A>T c.944A>T (p.Gln315Leu) c.-4294966028A>T c.818A>T (p.Gln273Leu) c.746A>T (p.Gln249Leu) | |
7 | g.139962101G>A | CA458115501 | TBXAS1 | c.1002G>A (p.Gln334=) c.*791G>A (n.*791G>A) c.1140G>A (p.Gln380=) c.1005G>A (p.Gln335=) c.1143G>A (p.Gln381=) c.801G>A (p.Gln267=) n.973G>A n.485G>A n.367G>A c.945G>A (p.Gln315=) c.-4294966027G>A c.819G>A (p.Gln273=) c.747G>A (p.Gln249=) | gnomAD v4 |
7 | g.139962101G>C | CA369585095 | TBXAS1 | c.1002G>C (p.Gln334His) c.*791G>C (n.*791G>C) c.1140G>C (p.Gln380His) c.1005G>C (p.Gln335His) c.1143G>C (p.Gln381His) c.801G>C (p.Gln267His) n.973G>C n.485G>C n.367G>C c.945G>C (p.Gln315His) c.-4294966027G>C c.819G>C (p.Gln273His) c.747G>C (p.Gln249His) | |
7 | g.139962101G= | CA1747341102 | TBXAS1 | c.1002G= (p.Gln334=) c.*791G= (n.*791G=) c.1140G= (p.Gln380=) c.1005G= (p.Gln335=) c.1143G= (p.Gln381=) c.801G= (p.Gln267=) n.973G= n.485G= n.367G= c.945G= (p.Gln315=) c.-4294966027G= c.819G= (p.Gln273=) c.747G= (p.Gln249=) | |
7 | g.139962101G>T | CA369585097 | TBXAS1 | c.1002G>T (p.Gln334His) c.*791G>T (n.*791G>T) c.1140G>T (p.Gln380His) c.1005G>T (p.Gln335His) c.1143G>T (p.Gln381His) c.801G>T (p.Gln267His) n.973G>T n.485G>T n.367G>T c.945G>T (p.Gln315His) c.-4294966027G>T c.819G>T (p.Gln273His) c.747G>T (p.Gln249His) | dbSNP |
7 | g.139962102G>A | CA4511870 | TBXAS1 | c.1003G>A (p.Ala335Thr) c.*792G>A (n.*792G>A) c.1141G>A (p.Ala381Thr) c.1006G>A (p.Ala336Thr) c.1144G>A (p.Ala382Thr) c.802G>A (p.Ala268Thr) n.974G>A n.486G>A n.368G>A c.946G>A (p.Ala316Thr) c.-4294966026G>A c.820G>A (p.Ala274Thr) c.748G>A (p.Ala250Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962102G>C | CA369585101 | TBXAS1 | c.1003G>C (p.Ala335Pro) c.*792G>C (n.*792G>C) c.1141G>C (p.Ala381Pro) c.1006G>C (p.Ala336Pro) c.1144G>C (p.Ala382Pro) c.802G>C (p.Ala268Pro) n.974G>C n.486G>C n.368G>C c.946G>C (p.Ala316Pro) c.-4294966026G>C c.820G>C (p.Ala274Pro) c.748G>C (p.Ala250Pro) | |
7 | g.139962102G= | CA1747341103 | TBXAS1 | c.1003G= (p.Ala335=) c.*792G= (n.*792G=) c.1141G= (p.Ala381=) c.1006G= (p.Ala336=) c.1144G= (p.Ala382=) c.802G= (p.Ala268=) n.974G= n.486G= n.368G= c.946G= (p.Ala316=) c.-4294966026G= c.820G= (p.Ala274=) c.748G= (p.Ala250=) | |
7 | g.139962102G>T | CA369585104 | TBXAS1 | c.1003G>T (p.Ala335Ser) c.*792G>T (n.*792G>T) c.1141G>T (p.Ala381Ser) c.1006G>T (p.Ala336Ser) c.1144G>T (p.Ala382Ser) c.802G>T (p.Ala268Ser) n.974G>T n.486G>T n.368G>T c.946G>T (p.Ala316Ser) c.-4294966026G>T c.820G>T (p.Ala274Ser) c.748G>T (p.Ala250Ser) | |
7 | g.139962103C>A | CA369585109 | TBXAS1 | c.1004C>A (p.Ala335Asp) c.*793C>A (n.*793C>A) c.1142C>A (p.Ala381Asp) c.1007C>A (p.Ala336Asp) c.1145C>A (p.Ala382Asp) c.803C>A (p.Ala268Asp) n.975C>A n.487C>A n.369C>A c.947C>A (p.Ala316Asp) c.-4294966025C>A c.821C>A (p.Ala274Asp) c.749C>A (p.Ala250Asp) | |
7 | g.139962103C= | CA1747341104 | TBXAS1 | c.1004C= (p.Ala335=) c.*793C= (n.*793C=) c.1142C= (p.Ala381=) c.1007C= (p.Ala336=) c.1145C= (p.Ala382=) c.803C= (p.Ala268=) n.975C= n.487C= n.369C= c.947C= (p.Ala316=) c.-4294966025C= c.821C= (p.Ala274=) c.749C= (p.Ala250=) | |
7 | g.139962103C>G | CA369585111 | TBXAS1 | c.1004C>G (p.Ala335Gly) c.*793C>G (n.*793C>G) c.1142C>G (p.Ala381Gly) c.1007C>G (p.Ala336Gly) c.1145C>G (p.Ala382Gly) c.803C>G (p.Ala268Gly) n.975C>G n.487C>G n.369C>G c.947C>G (p.Ala316Gly) c.-4294966025C>G c.821C>G (p.Ala274Gly) c.749C>G (p.Ala250Gly) | |
7 | g.139962103C>T | CA369585114 | TBXAS1 | c.1004C>T (p.Ala335Val) c.*793C>T (n.*793C>T) c.1142C>T (p.Ala381Val) c.1007C>T (p.Ala336Val) c.1145C>T (p.Ala382Val) c.803C>T (p.Ala268Val) n.975C>T n.487C>T n.369C>T c.947C>T (p.Ala316Val) c.-4294966025C>T c.821C>T (p.Ala274Val) c.749C>T (p.Ala250Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962104C>A | CA458115503 | TBXAS1 | c.1005C>A (p.Ala335=) c.*794C>A (n.*794C>A) c.1143C>A (p.Ala381=) c.1008C>A (p.Ala336=) c.1146C>A (p.Ala382=) c.804C>A (p.Ala268=) n.976C>A n.488C>A n.370C>A c.948C>A (p.Ala316=) c.-4294966024C>A c.822C>A (p.Ala274=) c.750C>A (p.Ala250=) | |
7 | g.139962104C= | CA1747341105 | TBXAS1 | c.1005C= (p.Ala335=) c.*794C= (n.*794C=) c.1143C= (p.Ala381=) c.1008C= (p.Ala336=) c.1146C= (p.Ala382=) c.804C= (p.Ala268=) n.976C= n.488C= n.370C= c.948C= (p.Ala316=) c.-4294966024C= c.822C= (p.Ala274=) c.750C= (p.Ala250=) | |
7 | g.139962104C>G | CA458115504 | TBXAS1 | c.1005C>G (p.Ala335=) c.*794C>G (n.*794C>G) c.1143C>G (p.Ala381=) c.1008C>G (p.Ala336=) c.1146C>G (p.Ala382=) c.804C>G (p.Ala268=) n.976C>G n.488C>G n.370C>G c.948C>G (p.Ala316=) c.-4294966024C>G c.822C>G (p.Ala274=) c.750C>G (p.Ala250=) | ClinVar dbSNP |
7 | g.139962104C>T | CA458115505 | TBXAS1 | c.1005C>T (p.Ala335=) c.*794C>T (n.*794C>T) c.1143C>T (p.Ala381=) c.1008C>T (p.Ala336=) c.1146C>T (p.Ala382=) c.804C>T (p.Ala268=) n.976C>T n.488C>T n.370C>T c.948C>T (p.Ala316=) c.-4294966024C>T c.822C>T (p.Ala274=) c.750C>T (p.Ala250=) | gnomAD v4 |
7 | g.139962105T>A | CA369585123 | TBXAS1 | c.1006T>A (p.Phe336Ile) c.*795T>A (n.*795T>A) c.1144T>A (p.Phe382Ile) c.1009T>A (p.Phe337Ile) c.1147T>A (p.Phe383Ile) c.805T>A (p.Phe269Ile) n.977T>A n.489T>A n.371T>A c.949T>A (p.Phe317Ile) c.-4294966023T>A c.823T>A (p.Phe275Ile) c.751T>A (p.Phe251Ile) | |
7 | g.139962105T>C | CA369585121 | TBXAS1 | c.1006T>C (p.Phe336Leu) c.*795T>C (n.*795T>C) c.1144T>C (p.Phe382Leu) c.1009T>C (p.Phe337Leu) c.1147T>C (p.Phe383Leu) c.805T>C (p.Phe269Leu) n.977T>C n.489T>C n.371T>C c.949T>C (p.Phe317Leu) c.-4294966023T>C c.823T>C (p.Phe275Leu) c.751T>C (p.Phe251Leu) | |
7 | g.139962105T>G | CA369585118 | TBXAS1 | c.1006T>G (p.Phe336Val) c.*795T>G (n.*795T>G) c.1144T>G (p.Phe382Val) c.1009T>G (p.Phe337Val) c.1147T>G (p.Phe383Val) c.805T>G (p.Phe269Val) n.977T>G n.489T>G n.371T>G c.949T>G (p.Phe317Val) c.-4294966023T>G c.823T>G (p.Phe275Val) c.751T>G (p.Phe251Val) | |
7 | g.139962106T>A | CA369585132 | TBXAS1 | c.1007T>A (p.Phe336Tyr) c.*796T>A (n.*796T>A) c.1145T>A (p.Phe382Tyr) c.1010T>A (p.Phe337Tyr) c.1148T>A (p.Phe383Tyr) c.806T>A (p.Phe269Tyr) n.978T>A n.490T>A n.372T>A c.950T>A (p.Phe317Tyr) c.-4294966022T>A c.824T>A (p.Phe275Tyr) c.752T>A (p.Phe251Tyr) | |
7 | g.139962106T>C | CA369585127 | TBXAS1 | c.1007T>C (p.Phe336Ser) c.*796T>C (n.*796T>C) c.1145T>C (p.Phe382Ser) c.1010T>C (p.Phe337Ser) c.1148T>C (p.Phe383Ser) c.806T>C (p.Phe269Ser) n.978T>C n.490T>C n.372T>C c.950T>C (p.Phe317Ser) c.-4294966022T>C c.824T>C (p.Phe275Ser) c.752T>C (p.Phe251Ser) | |
7 | g.139962106T>G | CA369585129 | TBXAS1 | c.1007T>G (p.Phe336Cys) c.*796T>G (n.*796T>G) c.1145T>G (p.Phe382Cys) c.1010T>G (p.Phe337Cys) c.1148T>G (p.Phe383Cys) c.806T>G (p.Phe269Cys) n.978T>G n.490T>G n.372T>G c.950T>G (p.Phe317Cys) c.-4294966022T>G c.824T>G (p.Phe275Cys) c.752T>G (p.Phe251Cys) | |
7 | g.139962107C>A | CA369585137 | TBXAS1 | c.1008C>A (p.Phe336Leu) c.*797C>A (n.*797C>A) c.1146C>A (p.Phe382Leu) c.1011C>A (p.Phe337Leu) c.1149C>A (p.Phe383Leu) c.807C>A (p.Phe269Leu) n.979C>A n.491C>A n.373C>A c.951C>A (p.Phe317Leu) c.-4294966021C>A c.825C>A (p.Phe275Leu) c.753C>A (p.Phe251Leu) | |
7 | g.139962107C>G | CA369585139 | TBXAS1 | c.1008C>G (p.Phe336Leu) c.*797C>G (n.*797C>G) c.1146C>G (p.Phe382Leu) c.1011C>G (p.Phe337Leu) c.1149C>G (p.Phe383Leu) c.807C>G (p.Phe269Leu) n.979C>G n.491C>G n.373C>G c.951C>G (p.Phe317Leu) c.-4294966021C>G c.825C>G (p.Phe275Leu) c.753C>G (p.Phe251Leu) | |
7 | g.139962107C>T | CA458115506 | TBXAS1 | c.1008C>T (p.Phe336=) c.*797C>T (n.*797C>T) c.1146C>T (p.Phe382=) c.1011C>T (p.Phe337=) c.1149C>T (p.Phe383=) c.807C>T (p.Phe269=) n.979C>T n.491C>T n.373C>T c.951C>T (p.Phe317=) c.-4294966021C>T c.825C>T (p.Phe275=) c.753C>T (p.Phe251=) | COSMIC COSMIC |
7 | g.139962108A= | CA1747341106 | TBXAS1 | c.1009A= (p.Ile337=) c.*798A= (n.*798A=) c.1147A= (p.Ile383=) c.1012A= (p.Ile338=) c.1150A= (p.Ile384=) c.808A= (p.Ile270=) n.980A= n.492A= n.374A= c.952A= (p.Ile318=) c.-4294966020A= c.826A= (p.Ile276=) c.754A= (p.Ile252=) | |
7 | g.139962108A>C | CA369585142 | TBXAS1 | c.1009A>C (p.Ile337Leu) c.*798A>C (n.*798A>C) c.1147A>C (p.Ile383Leu) c.1012A>C (p.Ile338Leu) c.1150A>C (p.Ile384Leu) c.808A>C (p.Ile270Leu) n.980A>C n.492A>C n.374A>C c.952A>C (p.Ile318Leu) c.-4294966020A>C c.826A>C (p.Ile276Leu) c.754A>C (p.Ile252Leu) | |
7 | g.139962108A>G | CA369585145 | TBXAS1 | c.1009A>G (p.Ile337Val) c.*798A>G (n.*798A>G) c.1147A>G (p.Ile383Val) c.1012A>G (p.Ile338Val) c.1150A>G (p.Ile384Val) c.808A>G (p.Ile270Val) n.980A>G n.492A>G n.374A>G c.952A>G (p.Ile318Val) c.-4294966020A>G c.826A>G (p.Ile276Val) c.754A>G (p.Ile252Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962108A>T | CA369585148 | TBXAS1 | c.1009A>T (p.Ile337Phe) c.*798A>T (n.*798A>T) c.1147A>T (p.Ile383Phe) c.1012A>T (p.Ile338Phe) c.1150A>T (p.Ile384Phe) c.808A>T (p.Ile270Phe) n.980A>T n.492A>T n.374A>T c.952A>T (p.Ile318Phe) c.-4294966020A>T c.826A>T (p.Ile276Phe) c.754A>T (p.Ile252Phe) | |
7 | g.139962109T>A | CA369585152 | TBXAS1 | c.1010T>A (p.Ile337Asn) c.*799T>A (n.*799T>A) c.1148T>A (p.Ile383Asn) c.1013T>A (p.Ile338Asn) c.1151T>A (p.Ile384Asn) c.809T>A (p.Ile270Asn) n.981T>A n.493T>A n.375T>A c.953T>A (p.Ile318Asn) c.-4294966019T>A c.827T>A (p.Ile276Asn) c.755T>A (p.Ile252Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962109T>C | CA369585158 | TBXAS1 | c.1010T>C (p.Ile337Thr) c.*799T>C (n.*799T>C) c.1148T>C (p.Ile383Thr) c.1013T>C (p.Ile338Thr) c.1151T>C (p.Ile384Thr) c.809T>C (p.Ile270Thr) n.981T>C n.493T>C n.375T>C c.953T>C (p.Ile318Thr) c.-4294966019T>C c.827T>C (p.Ile276Thr) c.755T>C (p.Ile252Thr) | gnomAD v4 |
7 | g.139962109T>G | CA369585154 | TBXAS1 | c.1010T>G (p.Ile337Ser) c.*799T>G (n.*799T>G) c.1148T>G (p.Ile383Ser) c.1013T>G (p.Ile338Ser) c.1151T>G (p.Ile384Ser) c.809T>G (p.Ile270Ser) n.981T>G n.493T>G n.375T>G c.953T>G (p.Ile318Ser) c.-4294966019T>G c.827T>G (p.Ile276Ser) c.755T>G (p.Ile252Ser) | |
7 | g.139962109T= | CA1747341107 | TBXAS1 | c.1010T= (p.Ile337=) c.*799T= (n.*799T=) c.1148T= (p.Ile383=) c.1013T= (p.Ile338=) c.1151T= (p.Ile384=) c.809T= (p.Ile270=) n.981T= n.493T= n.375T= c.953T= (p.Ile318=) c.-4294966019T= c.827T= (p.Ile276=) c.755T= (p.Ile252=) | |
7 | g.139962110C>A | CA458115509 | TBXAS1 | c.1011C>A (p.Ile337=) c.*800C>A (n.*800C>A) c.1149C>A (p.Ile383=) c.1014C>A (p.Ile338=) c.1152C>A (p.Ile384=) c.810C>A (p.Ile270=) n.982C>A n.494C>A n.376C>A c.954C>A (p.Ile318=) c.-4294966018C>A c.828C>A (p.Ile276=) c.756C>A (p.Ile252=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962110C= | CA1747341108 | TBXAS1 | c.1011C= (p.Ile337=) c.*800C= (n.*800C=) c.1149C= (p.Ile383=) c.1014C= (p.Ile338=) c.1152C= (p.Ile384=) c.810C= (p.Ile270=) n.982C= n.494C= n.376C= c.954C= (p.Ile318=) c.-4294966018C= c.828C= (p.Ile276=) c.756C= (p.Ile252=) | |
7 | g.139962110C>G | CA369585161 | TBXAS1 | c.1011C>G (p.Ile337Met) c.*800C>G (n.*800C>G) c.1149C>G (p.Ile383Met) c.1014C>G (p.Ile338Met) c.1152C>G (p.Ile384Met) c.810C>G (p.Ile270Met) n.982C>G n.494C>G n.376C>G c.954C>G (p.Ile318Met) c.-4294966018C>G c.828C>G (p.Ile276Met) c.756C>G (p.Ile252Met) | gnomAD v4 |
7 | g.139962110C>T | CA458115508 | TBXAS1 | c.1011C>T (p.Ile337=) c.*800C>T (n.*800C>T) c.1149C>T (p.Ile383=) c.1014C>T (p.Ile338=) c.1152C>T (p.Ile384=) c.810C>T (p.Ile270=) n.982C>T n.494C>T n.376C>T c.954C>T (p.Ile318=) c.-4294966018C>T c.828C>T (p.Ile276=) c.756C>T (p.Ile252=) | |
7 | g.139962111T>A | CA369585163 | TBXAS1 | c.1012T>A (p.Phe338Ile) c.*801T>A (n.*801T>A) c.1150T>A (p.Phe384Ile) c.1015T>A (p.Phe339Ile) c.1153T>A (p.Phe385Ile) c.811T>A (p.Phe271Ile) n.983T>A n.495T>A n.377T>A c.955T>A (p.Phe319Ile) c.-4294966017T>A c.829T>A (p.Phe277Ile) c.757T>A (p.Phe253Ile) | |
7 | g.139962111T>C | CA369585165 | TBXAS1 | c.1012T>C (p.Phe338Leu) c.*801T>C (n.*801T>C) c.1150T>C (p.Phe384Leu) c.1015T>C (p.Phe339Leu) c.1153T>C (p.Phe385Leu) c.811T>C (p.Phe271Leu) n.983T>C n.495T>C n.377T>C c.955T>C (p.Phe319Leu) c.-4294966017T>C c.829T>C (p.Phe277Leu) c.757T>C (p.Phe253Leu) | gnomAD v4 |
7 | g.139962111T>G | CA369585168 | TBXAS1 | c.1012T>G (p.Phe338Val) c.*801T>G (n.*801T>G) c.1150T>G (p.Phe384Val) c.1015T>G (p.Phe339Val) c.1153T>G (p.Phe385Val) c.811T>G (p.Phe271Val) n.983T>G n.495T>G n.377T>G c.955T>G (p.Phe319Val) c.-4294966017T>G c.829T>G (p.Phe277Val) c.757T>G (p.Phe253Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962111T= | CA1747341109 | TBXAS1 | c.1012T= (p.Phe338=) c.*801T= (n.*801T=) c.1150T= (p.Phe384=) c.1015T= (p.Phe339=) c.1153T= (p.Phe385=) c.811T= (p.Phe271=) n.983T= n.495T= n.377T= c.955T= (p.Phe319=) c.-4294966017T= c.829T= (p.Phe277=) c.757T= (p.Phe253=) | |
7 | g.139962112T>A | CA369585172 | TBXAS1 | c.1013T>A (p.Phe338Tyr) c.*802T>A (n.*802T>A) c.1151T>A (p.Phe384Tyr) c.1016T>A (p.Phe339Tyr) c.1154T>A (p.Phe385Tyr) c.812T>A (p.Phe271Tyr) n.984T>A n.496T>A n.378T>A c.956T>A (p.Phe319Tyr) c.-4294966016T>A c.830T>A (p.Phe277Tyr) c.758T>A (p.Phe253Tyr) | |
7 | g.139962112T>C | CA369585176 | TBXAS1 | c.1013T>C (p.Phe338Ser) c.*802T>C (n.*802T>C) c.1151T>C (p.Phe384Ser) c.1016T>C (p.Phe339Ser) c.1154T>C (p.Phe385Ser) c.812T>C (p.Phe271Ser) n.984T>C n.496T>C n.378T>C c.956T>C (p.Phe319Ser) c.-4294966016T>C c.830T>C (p.Phe277Ser) c.758T>C (p.Phe253Ser) | |
7 | g.139962112T>G | CA369585174 | TBXAS1 | c.1013T>G (p.Phe338Cys) c.*802T>G (n.*802T>G) c.1151T>G (p.Phe384Cys) c.1016T>G (p.Phe339Cys) c.1154T>G (p.Phe385Cys) c.812T>G (p.Phe271Cys) n.984T>G n.496T>G n.378T>G c.956T>G (p.Phe319Cys) c.-4294966016T>G c.830T>G (p.Phe277Cys) c.758T>G (p.Phe253Cys) | |
7 | g.139962113C>A | CA369585180 | TBXAS1 | c.1014C>A (p.Phe338Leu) c.*803C>A (n.*803C>A) c.1152C>A (p.Phe384Leu) c.1017C>A (p.Phe339Leu) c.1155C>A (p.Phe385Leu) c.813C>A (p.Phe271Leu) n.985C>A n.497C>A n.379C>A c.957C>A (p.Phe319Leu) c.-4294966015C>A c.831C>A (p.Phe277Leu) c.759C>A (p.Phe253Leu) | |
7 | g.139962113C>G | CA369585182 | TBXAS1 | c.1014C>G (p.Phe338Leu) c.*803C>G (n.*803C>G) c.1152C>G (p.Phe384Leu) c.1017C>G (p.Phe339Leu) c.1155C>G (p.Phe385Leu) c.813C>G (p.Phe271Leu) n.985C>G n.497C>G n.379C>G c.957C>G (p.Phe319Leu) c.-4294966015C>G c.831C>G (p.Phe277Leu) c.759C>G (p.Phe253Leu) | |
7 | g.139962113C>T | CA458115512 | TBXAS1 | c.1014C>T (p.Phe338=) c.*803C>T (n.*803C>T) c.1152C>T (p.Phe384=) c.1017C>T (p.Phe339=) c.1155C>T (p.Phe385=) c.813C>T (p.Phe271=) n.985C>T n.497C>T n.379C>T c.957C>T (p.Phe319=) c.-4294966015C>T c.831C>T (p.Phe277=) c.759C>T (p.Phe253=) | COSMIC COSMIC |
7 | g.139962114C>A | CA369585185 | TBXAS1 | c.1015C>A (p.Leu339Ile) c.*804C>A (n.*804C>A) c.1153C>A (p.Leu385Ile) c.1018C>A (p.Leu340Ile) c.1156C>A (p.Leu386Ile) c.814C>A (p.Leu272Ile) n.986C>A n.498C>A n.380C>A c.958C>A (p.Leu320Ile) c.-4294966014C>A c.832C>A (p.Leu278Ile) c.760C>A (p.Leu254Ile) | |
7 | g.139962114C>G | CA369585187 | TBXAS1 | c.1015C>G (p.Leu339Val) c.*804C>G (n.*804C>G) c.1153C>G (p.Leu385Val) c.1018C>G (p.Leu340Val) c.1156C>G (p.Leu386Val) c.814C>G (p.Leu272Val) n.986C>G n.498C>G n.380C>G c.958C>G (p.Leu320Val) c.-4294966014C>G c.832C>G (p.Leu278Val) c.760C>G (p.Leu254Val) | |
7 | g.139962114C>T | CA369585189 | TBXAS1 | c.1015C>T (p.Leu339Phe) c.*804C>T (n.*804C>T) c.1153C>T (p.Leu385Phe) c.1018C>T (p.Leu340Phe) c.1156C>T (p.Leu386Phe) c.814C>T (p.Leu272Phe) n.986C>T n.498C>T n.380C>T c.958C>T (p.Leu320Phe) c.-4294966014C>T c.832C>T (p.Leu278Phe) c.760C>T (p.Leu254Phe) | |
7 | g.139962115T>A | CA369585192 | TBXAS1 | c.1016T>A (p.Leu339His) c.*805T>A (n.*805T>A) c.1154T>A (p.Leu385His) c.1019T>A (p.Leu340His) c.1157T>A (p.Leu386His) c.815T>A (p.Leu272His) n.987T>A n.499T>A n.381T>A c.959T>A (p.Leu320His) c.-4294966013T>A c.833T>A (p.Leu278His) c.761T>A (p.Leu254His) | |
7 | g.139962115T>C | CA369585194 | TBXAS1 | c.1016T>C (p.Leu339Pro) c.*805T>C (n.*805T>C) c.1154T>C (p.Leu385Pro) c.1019T>C (p.Leu340Pro) c.1157T>C (p.Leu386Pro) c.815T>C (p.Leu272Pro) n.987T>C n.499T>C n.381T>C c.959T>C (p.Leu320Pro) c.-4294966013T>C c.833T>C (p.Leu278Pro) c.761T>C (p.Leu254Pro) | gnomAD v4 |
7 | g.139962115T>G | CA369585197 | TBXAS1 | c.1016T>G (p.Leu339Arg) c.*805T>G (n.*805T>G) c.1154T>G (p.Leu385Arg) c.1019T>G (p.Leu340Arg) c.1157T>G (p.Leu386Arg) c.815T>G (p.Leu272Arg) n.987T>G n.499T>G n.381T>G c.959T>G (p.Leu320Arg) c.-4294966013T>G c.833T>G (p.Leu278Arg) c.761T>G (p.Leu254Arg) | |
7 | g.139962116C>A | CA458115513 | TBXAS1 | c.1017C>A (p.Leu339=) c.*806C>A (n.*806C>A) c.1155C>A (p.Leu385=) c.1020C>A (p.Leu340=) c.1158C>A (p.Leu386=) c.816C>A (p.Leu272=) n.988C>A n.500C>A n.382C>A c.960C>A (p.Leu320=) c.-4294966012C>A c.834C>A (p.Leu278=) c.762C>A (p.Leu254=) | dbSNP gnomAD v4 |
7 | g.139962116C= | CA1747341110 | TBXAS1 | c.1017C= (p.Leu339=) c.*806C= (n.*806C=) c.1155C= (p.Leu385=) c.1020C= (p.Leu340=) c.1158C= (p.Leu386=) c.816C= (p.Leu272=) n.988C= n.500C= n.382C= c.960C= (p.Leu320=) c.-4294966012C= c.834C= (p.Leu278=) c.762C= (p.Leu254=) | |
7 | g.139962116C>G | CA458115514 | TBXAS1 | c.1017C>G (p.Leu339=) c.*806C>G (n.*806C>G) c.1155C>G (p.Leu385=) c.1020C>G (p.Leu340=) c.1158C>G (p.Leu386=) c.816C>G (p.Leu272=) n.988C>G n.500C>G n.382C>G c.960C>G (p.Leu320=) c.-4294966012C>G c.834C>G (p.Leu278=) c.762C>G (p.Leu254=) | |
7 | g.139962116C>T | CA458115515 | TBXAS1 | c.1017C>T (p.Leu339=) c.*806C>T (n.*806C>T) c.1155C>T (p.Leu385=) c.1020C>T (p.Leu340=) c.1158C>T (p.Leu386=) c.816C>T (p.Leu272=) n.988C>T n.500C>T n.382C>T c.960C>T (p.Leu320=) c.-4294966012C>T c.834C>T (p.Leu278=) c.762C>T (p.Leu254=) | |
7 | g.139962117A>C | CA369585200 | TBXAS1 | c.1018A>C (p.Ile340Leu) c.*807A>C (n.*807A>C) c.1156A>C (p.Ile386Leu) c.1021A>C (p.Ile341Leu) c.1159A>C (p.Ile387Leu) c.817A>C (p.Ile273Leu) n.989A>C n.501A>C n.383A>C c.961A>C (p.Ile321Leu) c.-4294966011A>C c.835A>C (p.Ile279Leu) c.763A>C (p.Ile255Leu) | |
7 | g.139962117A>G | CA369585203 | TBXAS1 | c.1018A>G (p.Ile340Val) c.*807A>G (n.*807A>G) c.1156A>G (p.Ile386Val) c.1021A>G (p.Ile341Val) c.1159A>G (p.Ile387Val) c.817A>G (p.Ile273Val) n.989A>G n.501A>G n.383A>G c.961A>G (p.Ile321Val) c.-4294966011A>G c.835A>G (p.Ile279Val) c.763A>G (p.Ile255Val) | |
7 | g.139962117A>T | CA369585206 | TBXAS1 | c.1018A>T (p.Ile340Phe) c.*807A>T (n.*807A>T) c.1156A>T (p.Ile386Phe) c.1021A>T (p.Ile341Phe) c.1159A>T (p.Ile387Phe) c.817A>T (p.Ile273Phe) n.989A>T n.501A>T n.383A>T c.961A>T (p.Ile321Phe) c.-4294966011A>T c.835A>T (p.Ile279Phe) c.763A>T (p.Ile255Phe) | |
7 | g.139962118T>A | CA369585213 | TBXAS1 | c.1019T>A (p.Ile340Asn) c.*808T>A (n.*808T>A) c.1157T>A (p.Ile386Asn) c.1022T>A (p.Ile341Asn) c.1160T>A (p.Ile387Asn) c.818T>A (p.Ile273Asn) n.990T>A n.502T>A n.384T>A c.962T>A (p.Ile321Asn) c.-4294966010T>A c.836T>A (p.Ile279Asn) c.764T>A (p.Ile255Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962118T>C | CA369585215 | TBXAS1 | c.1019T>C (p.Ile340Thr) c.*808T>C (n.*808T>C) c.1157T>C (p.Ile386Thr) c.1022T>C (p.Ile341Thr) c.1160T>C (p.Ile387Thr) c.818T>C (p.Ile273Thr) n.990T>C n.502T>C n.384T>C c.962T>C (p.Ile321Thr) c.-4294966010T>C c.836T>C (p.Ile279Thr) c.764T>C (p.Ile255Thr) | |
7 | g.139962118T>G | CA369585210 | TBXAS1 | c.1019T>G (p.Ile340Ser) c.*808T>G (n.*808T>G) c.1157T>G (p.Ile386Ser) c.1022T>G (p.Ile341Ser) c.1160T>G (p.Ile387Ser) c.818T>G (p.Ile273Ser) n.990T>G n.502T>G n.384T>G c.962T>G (p.Ile321Ser) c.-4294966010T>G c.836T>G (p.Ile279Ser) c.764T>G (p.Ile255Ser) | |
7 | g.139962118T= | CA1747341111 | TBXAS1 | c.1019T= (p.Ile340=) c.*808T= (n.*808T=) c.1157T= (p.Ile386=) c.1022T= (p.Ile341=) c.1160T= (p.Ile387=) c.818T= (p.Ile273=) n.990T= n.502T= n.384T= c.962T= (p.Ile321=) c.-4294966010T= c.836T= (p.Ile279=) c.764T= (p.Ile255=) | |
7 | g.139962119C>A | CA458115517 | TBXAS1 | c.1020C>A (p.Ile340=) c.*809C>A (n.*809C>A) c.1158C>A (p.Ile386=) c.1023C>A (p.Ile341=) c.1161C>A (p.Ile387=) c.819C>A (p.Ile273=) n.991C>A n.503C>A n.385C>A c.963C>A (p.Ile321=) c.-4294966009C>A c.837C>A (p.Ile279=) c.765C>A (p.Ile255=) | |
7 | g.139962119C= | CA1747341112 | TBXAS1 | c.1020C= (p.Ile340=) c.*809C= (n.*809C=) c.1158C= (p.Ile386=) c.1023C= (p.Ile341=) c.1161C= (p.Ile387=) c.819C= (p.Ile273=) n.991C= n.503C= n.385C= c.963C= (p.Ile321=) c.-4294966009C= c.837C= (p.Ile279=) c.765C= (p.Ile255=) | |
7 | g.139962119C>G | CA369585217 | TBXAS1 | c.1020C>G (p.Ile340Met) c.*809C>G (n.*809C>G) c.1158C>G (p.Ile386Met) c.1023C>G (p.Ile341Met) c.1161C>G (p.Ile387Met) c.819C>G (p.Ile273Met) n.991C>G n.503C>G n.385C>G c.963C>G (p.Ile321Met) c.-4294966009C>G c.837C>G (p.Ile279Met) c.765C>G (p.Ile255Met) | |
7 | g.139962119C>T | CA4511871 | TBXAS1 | c.1020C>T (p.Ile340=) c.*809C>T (n.*809C>T) c.1158C>T (p.Ile386=) c.1023C>T (p.Ile341=) c.1161C>T (p.Ile387=) c.819C>T (p.Ile273=) n.991C>T n.503C>T n.385C>T c.963C>T (p.Ile321=) c.-4294966009C>T c.837C>T (p.Ile279=) c.765C>T (p.Ile255=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.139962120G>A | CA369585223 | TBXAS1 | c.1021G>A (p.Ala341Thr) c.*810G>A (n.*810G>A) c.1159G>A (p.Ala387Thr) c.1024G>A (p.Ala342Thr) c.1162G>A (p.Ala388Thr) c.820G>A (p.Ala274Thr) n.992G>A n.504G>A n.386G>A c.964G>A (p.Ala322Thr) c.-4294966008G>A c.838G>A (p.Ala280Thr) c.766G>A (p.Ala256Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962120G>C | CA369585226 | TBXAS1 | c.1021G>C (p.Ala341Pro) c.*810G>C (n.*810G>C) c.1159G>C (p.Ala387Pro) c.1024G>C (p.Ala342Pro) c.1162G>C (p.Ala388Pro) c.820G>C (p.Ala274Pro) n.992G>C n.504G>C n.386G>C c.964G>C (p.Ala322Pro) c.-4294966008G>C c.838G>C (p.Ala280Pro) c.766G>C (p.Ala256Pro) | |
7 | g.139962120G= | CA1747341113 | TBXAS1 | c.1021G= (p.Ala341=) c.*810G= (n.*810G=) c.1159G= (p.Ala387=) c.1024G= (p.Ala342=) c.1162G= (p.Ala388=) c.820G= (p.Ala274=) n.992G= n.504G= n.386G= c.964G= (p.Ala322=) c.-4294966008G= c.838G= (p.Ala280=) c.766G= (p.Ala256=) | |
7 | g.139962120G>T | CA369585228 | TBXAS1 | c.1021G>T (p.Ala341Ser) c.*810G>T (n.*810G>T) c.1159G>T (p.Ala387Ser) c.1024G>T (p.Ala342Ser) c.1162G>T (p.Ala388Ser) c.820G>T (p.Ala274Ser) n.992G>T n.504G>T n.386G>T c.964G>T (p.Ala322Ser) c.-4294966008G>T c.838G>T (p.Ala280Ser) c.766G>T (p.Ala256Ser) | gnomAD v4 |
7 | g.139962121C>A | CA369585231 | TBXAS1 | c.1022C>A (p.Ala341Asp) c.*811C>A (n.*811C>A) c.1160C>A (p.Ala387Asp) c.1025C>A (p.Ala342Asp) c.1163C>A (p.Ala388Asp) c.821C>A (p.Ala274Asp) n.993C>A n.505C>A n.387C>A c.965C>A (p.Ala322Asp) c.-4294966007C>A c.839C>A (p.Ala280Asp) c.767C>A (p.Ala256Asp) | dbSNP |
7 | g.139962121C= | CA1747341114 | TBXAS1 | c.1022C= (p.Ala341=) c.*811C= (n.*811C=) c.1160C= (p.Ala387=) c.1025C= (p.Ala342=) c.1163C= (p.Ala388=) c.821C= (p.Ala274=) n.993C= n.505C= n.387C= c.965C= (p.Ala322=) c.-4294966007C= c.839C= (p.Ala280=) c.767C= (p.Ala256=) | |
7 | g.139962121C>G | CA369585234 | TBXAS1 | c.1022C>G (p.Ala341Gly) c.*811C>G (n.*811C>G) c.1160C>G (p.Ala387Gly) c.1025C>G (p.Ala342Gly) c.1163C>G (p.Ala388Gly) c.821C>G (p.Ala274Gly) n.993C>G n.505C>G n.387C>G c.965C>G (p.Ala322Gly) c.-4294966007C>G c.839C>G (p.Ala280Gly) c.767C>G (p.Ala256Gly) | |
7 | g.139962121C>T | CA4511872 | TBXAS1 | c.1022C>T (p.Ala341Val) c.*811C>T (n.*811C>T) c.1160C>T (p.Ala387Val) c.1025C>T (p.Ala342Val) c.1163C>T (p.Ala388Val) c.821C>T (p.Ala274Val) n.993C>T n.505C>T n.387C>T c.965C>T (p.Ala322Val) c.-4294966007C>T c.839C>T (p.Ala280Val) c.767C>T (p.Ala256Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.139962122T>A | CA458115520 | TBXAS1 | c.1023T>A (p.Ala341=) c.*812T>A (n.*812T>A) c.1161T>A (p.Ala387=) c.1026T>A (p.Ala342=) c.1164T>A (p.Ala388=) c.822T>A (p.Ala274=) n.994T>A n.506T>A n.388T>A c.966T>A (p.Ala322=) c.-4294966006T>A c.840T>A (p.Ala280=) c.768T>A (p.Ala256=) | gnomAD v4 |
7 | g.139962122T>C | CA458115521 | TBXAS1 | c.1023T>C (p.Ala341=) c.*812T>C (n.*812T>C) c.1161T>C (p.Ala387=) c.1026T>C (p.Ala342=) c.1164T>C (p.Ala388=) c.822T>C (p.Ala274=) n.994T>C n.506T>C n.388T>C c.966T>C (p.Ala322=) c.-4294966006T>C c.840T>C (p.Ala280=) c.768T>C (p.Ala256=) | |
7 | g.139962122T>G | CA458115522 | TBXAS1 | c.1023T>G (p.Ala341=) c.*812T>G (n.*812T>G) c.1161T>G (p.Ala387=) c.1026T>G (p.Ala342=) c.1164T>G (p.Ala388=) c.822T>G (p.Ala274=) n.994T>G n.506T>G n.388T>G c.966T>G (p.Ala322=) c.-4294966006T>G c.840T>G (p.Ala280=) c.768T>G (p.Ala256=) | |
7 | g.139962123G>A | CA369585238 | TBXAS1 | c.1024G>A (p.Gly342Ser) c.*813G>A (n.*813G>A) c.1162G>A (p.Gly388Ser) c.1027G>A (p.Gly343Ser) c.1165G>A (p.Gly389Ser) c.823G>A (p.Gly275Ser) n.995G>A n.507G>A n.389G>A c.967G>A (p.Gly323Ser) c.-4294966005G>A c.841G>A (p.Gly281Ser) c.769G>A (p.Gly257Ser) | |
7 | g.139962123G>C | CA369585240 | TBXAS1 | c.1024G>C (p.Gly342Arg) c.*813G>C (n.*813G>C) c.1162G>C (p.Gly388Arg) c.1027G>C (p.Gly343Arg) c.1165G>C (p.Gly389Arg) c.823G>C (p.Gly275Arg) n.995G>C n.507G>C n.389G>C c.967G>C (p.Gly323Arg) c.-4294966005G>C c.841G>C (p.Gly281Arg) c.769G>C (p.Gly257Arg) | |
7 | g.139962123G>T | CA369585242 | TBXAS1 | c.1024G>T (p.Gly342Cys) c.*813G>T (n.*813G>T) c.1162G>T (p.Gly388Cys) c.1027G>T (p.Gly343Cys) c.1165G>T (p.Gly389Cys) c.823G>T (p.Gly275Cys) n.995G>T n.507G>T n.389G>T c.967G>T (p.Gly323Cys) c.-4294966005G>T c.841G>T (p.Gly281Cys) c.769G>T (p.Gly257Cys) | |
7 | g.139962124G>A | CA369585245 | TBXAS1 | c.1025G>A (p.Gly342Asp) c.*814G>A (n.*814G>A) c.1163G>A (p.Gly388Asp) c.1028G>A (p.Gly343Asp) c.1166G>A (p.Gly389Asp) c.824G>A (p.Gly275Asp) n.996G>A n.508G>A n.390G>A c.968G>A (p.Gly323Asp) c.-4294966004G>A c.842G>A (p.Gly281Asp) c.770G>A (p.Gly257Asp) | |
7 | g.139962124G>C | CA369585247 | TBXAS1 | c.1025G>C (p.Gly342Ala) c.*814G>C (n.*814G>C) c.1163G>C (p.Gly388Ala) c.1028G>C (p.Gly343Ala) c.1166G>C (p.Gly389Ala) c.824G>C (p.Gly275Ala) n.996G>C n.508G>C n.390G>C c.968G>C (p.Gly323Ala) c.-4294966004G>C c.842G>C (p.Gly281Ala) c.770G>C (p.Gly257Ala) | gnomAD v4 |
7 | g.139962124G>T | CA369585250 | TBXAS1 | c.1025G>T (p.Gly342Val) c.*814G>T (n.*814G>T) c.1163G>T (p.Gly388Val) c.1028G>T (p.Gly343Val) c.1166G>T (p.Gly389Val) c.824G>T (p.Gly275Val) n.996G>T n.508G>T n.390G>T c.968G>T (p.Gly323Val) c.-4294966004G>T c.842G>T (p.Gly281Val) c.770G>T (p.Gly257Val) | |
7 | g.139962125C>A | CA458115523 | TBXAS1 | c.1026C>A (p.Gly342=) c.*815C>A (n.*815C>A) c.1164C>A (p.Gly388=) c.1029C>A (p.Gly343=) c.1167C>A (p.Gly389=) c.825C>A (p.Gly275=) n.997C>A n.509C>A n.391C>A c.969C>A (p.Gly323=) c.-4294966003C>A c.843C>A (p.Gly281=) c.771C>A (p.Gly257=) | |
7 | g.139962125C>G | CA458115525 | TBXAS1 | c.1026C>G (p.Gly342=) c.*815C>G (n.*815C>G) c.1164C>G (p.Gly388=) c.1029C>G (p.Gly343=) c.1167C>G (p.Gly389=) c.825C>G (p.Gly275=) n.997C>G n.509C>G n.391C>G c.969C>G (p.Gly323=) c.-4294966003C>G c.843C>G (p.Gly281=) c.771C>G (p.Gly257=) | |
7 | g.139962125C>T | CA458115526 | TBXAS1 | c.1026C>T (p.Gly342=) c.*815C>T (n.*815C>T) c.1164C>T (p.Gly388=) c.1029C>T (p.Gly343=) c.1167C>T (p.Gly389=) c.825C>T (p.Gly275=) n.997C>T n.509C>T n.391C>T c.969C>T (p.Gly323=) c.-4294966003C>T c.843C>T (p.Gly281=) c.771C>T (p.Gly257=) | |
7 | g.139962126T>A | CA369585258 | TBXAS1 | c.1027T>A (p.Tyr343Asn) c.*816T>A (n.*816T>A) c.1165T>A (p.Tyr389Asn) c.1030T>A (p.Tyr344Asn) c.1168T>A (p.Tyr390Asn) c.826T>A (p.Tyr276Asn) n.998T>A n.510T>A n.392T>A c.970T>A (p.Tyr324Asn) c.-4294966002T>A c.844T>A (p.Tyr282Asn) c.772T>A (p.Tyr258Asn) | |
7 | g.139962126T>C | CA369585253 | TBXAS1 | c.1027T>C (p.Tyr343His) c.*816T>C (n.*816T>C) c.1165T>C (p.Tyr389His) c.1030T>C (p.Tyr344His) c.1168T>C (p.Tyr390His) c.826T>C (p.Tyr276His) n.998T>C n.510T>C n.392T>C c.970T>C (p.Tyr324His) c.-4294966002T>C c.844T>C (p.Tyr282His) c.772T>C (p.Tyr258His) | gnomAD v4 |
7 | g.139962126T>G | CA369585255 | TBXAS1 | c.1027T>G (p.Tyr343Asp) c.*816T>G (n.*816T>G) c.1165T>G (p.Tyr389Asp) c.1030T>G (p.Tyr344Asp) c.1168T>G (p.Tyr390Asp) c.826T>G (p.Tyr276Asp) n.998T>G n.510T>G n.392T>G c.970T>G (p.Tyr324Asp) c.-4294966002T>G c.844T>G (p.Tyr282Asp) c.772T>G (p.Tyr258Asp) | |
7 | g.139962127A>C | CA369585261 | TBXAS1 | c.1028A>C (p.Tyr343Ser) c.*817A>C (n.*817A>C) c.1166A>C (p.Tyr389Ser) c.1031A>C (p.Tyr344Ser) c.1169A>C (p.Tyr390Ser) c.827A>C (p.Tyr276Ser) n.999A>C n.511A>C n.393A>C c.971A>C (p.Tyr324Ser) c.-4294966001A>C c.845A>C (p.Tyr282Ser) c.773A>C (p.Tyr258Ser) | |
7 | g.139962127A>G | CA369585264 | TBXAS1 | c.1028A>G (p.Tyr343Cys) c.*817A>G (n.*817A>G) c.1166A>G (p.Tyr389Cys) c.1031A>G (p.Tyr344Cys) c.1169A>G (p.Tyr390Cys) c.827A>G (p.Tyr276Cys) n.999A>G n.511A>G n.393A>G c.971A>G (p.Tyr324Cys) c.-4294966001A>G c.845A>G (p.Tyr282Cys) c.773A>G (p.Tyr258Cys) | gnomAD v4 |
7 | g.139962127A>T | CA369585265 | TBXAS1 | c.1028A>T (p.Tyr343Phe) c.*817A>T (n.*817A>T) c.1166A>T (p.Tyr389Phe) c.1031A>T (p.Tyr344Phe) c.1169A>T (p.Tyr390Phe) c.827A>T (p.Tyr276Phe) n.999A>T n.511A>T n.393A>T c.971A>T (p.Tyr324Phe) c.-4294966001A>T c.845A>T (p.Tyr282Phe) c.773A>T (p.Tyr258Phe) | |
7 | g.139962128del | CA2685190570 | TBXAS1 | c.1029del (p.Tyr343Ter) c.*818del (n.*818del) c.1167del (p.Tyr389Ter) c.1032del (p.Tyr344Ter) c.1170del (p.Tyr390Ter) c.828del (p.Tyr276Ter) n.1000del n.512del n.394del c.972del (p.Tyr324Ter) c.-4294966000del c.846del (p.Tyr282Ter) c.774del (p.Tyr258Ter) | gnomAD v4 |
7 | g.139962128T>A | CA369585268 | TBXAS1 | c.1029T>A (p.Tyr343Ter) c.*818T>A (n.*818T>A) c.1167T>A (p.Tyr389Ter) c.1032T>A (p.Tyr344Ter) c.1170T>A (p.Tyr390Ter) c.828T>A (p.Tyr276Ter) n.1000T>A n.512T>A n.394T>A c.972T>A (p.Tyr324Ter) c.-4294966000T>A c.846T>A (p.Tyr282Ter) c.774T>A (p.Tyr258Ter) | |
7 | g.139962128T>C | CA4511873 | TBXAS1 | c.1029T>C (p.Tyr343=) c.*818T>C (n.*818T>C) c.1167T>C (p.Tyr389=) c.1032T>C (p.Tyr344=) c.1170T>C (p.Tyr390=) c.828T>C (p.Tyr276=) n.1000T>C n.512T>C n.394T>C c.972T>C (p.Tyr324=) c.-4294966000T>C c.846T>C (p.Tyr282=) c.774T>C (p.Tyr258=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962128T>G | CA369585271 | TBXAS1 | c.1029T>G (p.Tyr343Ter) c.*818T>G (n.*818T>G) c.1167T>G (p.Tyr389Ter) c.1032T>G (p.Tyr344Ter) c.1170T>G (p.Tyr390Ter) c.828T>G (p.Tyr276Ter) n.1000T>G n.512T>G n.394T>G c.972T>G (p.Tyr324Ter) c.-4294966000T>G c.846T>G (p.Tyr282Ter) c.774T>G (p.Tyr258Ter) | dbSNP |
7 | g.139962128T= | CA1747341115 | TBXAS1 | c.1029T= (p.Tyr343=) c.*818T= (n.*818T=) c.1167T= (p.Tyr389=) c.1032T= (p.Tyr344=) c.1170T= (p.Tyr390=) c.828T= (p.Tyr276=) n.1000T= n.512T= n.394T= c.972T= (p.Tyr324=) c.-4294966000T= c.846T= (p.Tyr282=) c.774T= (p.Tyr258=) | |
7 | g.139962129G>A | CA369585276 | TBXAS1 | c.1030G>A (p.Glu344Lys) c.*819G>A (n.*819G>A) c.1168G>A (p.Glu390Lys) c.1033G>A (p.Glu345Lys) c.1171G>A (p.Glu391Lys) c.829G>A (p.Glu277Lys) n.1001G>A n.513G>A n.395G>A c.973G>A (p.Glu325Lys) c.-4294965999G>A c.847G>A (p.Glu283Lys) c.775G>A (p.Glu259Lys) | |
7 | g.139962129G>C | CA369585278 | TBXAS1 | c.1030G>C (p.Glu344Gln) c.*819G>C (n.*819G>C) c.1168G>C (p.Glu390Gln) c.1033G>C (p.Glu345Gln) c.1171G>C (p.Glu391Gln) c.829G>C (p.Glu277Gln) n.1001G>C n.513G>C n.395G>C c.973G>C (p.Glu325Gln) c.-4294965999G>C c.847G>C (p.Glu283Gln) c.775G>C (p.Glu259Gln) | |
7 | g.139962129G>T | CA369585281 | TBXAS1 | c.1030G>T (p.Glu344Ter) c.*819G>T (n.*819G>T) c.1168G>T (p.Glu390Ter) c.1033G>T (p.Glu345Ter) c.1171G>T (p.Glu391Ter) c.829G>T (p.Glu277Ter) n.1001G>T n.513G>T n.395G>T c.973G>T (p.Glu325Ter) c.-4294965999G>T c.847G>T (p.Glu283Ter) c.775G>T (p.Glu259Ter) | |
7 | g.139962130A>C | CA369585285 | TBXAS1 | c.1031A>C (p.Glu344Ala) c.*820A>C (n.*820A>C) c.1169A>C (p.Glu390Ala) c.1034A>C (p.Glu345Ala) c.1172A>C (p.Glu391Ala) c.830A>C (p.Glu277Ala) n.1002A>C n.514A>C n.396A>C c.974A>C (p.Glu325Ala) c.-4294965998A>C c.848A>C (p.Glu283Ala) c.776A>C (p.Glu259Ala) | |
7 | g.139962130A>G | CA369585286 | TBXAS1 | c.1031A>G (p.Glu344Gly) c.*820A>G (n.*820A>G) c.1169A>G (p.Glu390Gly) c.1034A>G (p.Glu345Gly) c.1172A>G (p.Glu391Gly) c.830A>G (p.Glu277Gly) n.1002A>G n.514A>G n.396A>G c.974A>G (p.Glu325Gly) c.-4294965998A>G c.848A>G (p.Glu283Gly) c.776A>G (p.Glu259Gly) | |
7 | g.139962130A>T | CA369585288 | TBXAS1 | c.1031A>T (p.Glu344Val) c.*820A>T (n.*820A>T) c.1169A>T (p.Glu390Val) c.1034A>T (p.Glu345Val) c.1172A>T (p.Glu391Val) c.830A>T (p.Glu277Val) n.1002A>T n.514A>T n.396A>T c.974A>T (p.Glu325Val) c.-4294965998A>T c.848A>T (p.Glu283Val) c.776A>T (p.Glu259Val) | |
7 | g.139962131A>C | CA369585291 | TBXAS1 | c.1032A>C (p.Glu344Asp) c.*821A>C (n.*821A>C) c.1170A>C (p.Glu390Asp) c.1035A>C (p.Glu345Asp) c.1173A>C (p.Glu391Asp) c.831A>C (p.Glu277Asp) n.1003A>C n.515A>C n.397A>C c.975A>C (p.Glu325Asp) c.-4294965997A>C c.849A>C (p.Glu283Asp) c.777A>C (p.Glu259Asp) | |
7 | g.139962131A>G | CA458115530 | TBXAS1 | c.1032A>G (p.Glu344=) c.*821A>G (n.*821A>G) c.1170A>G (p.Glu390=) c.1035A>G (p.Glu345=) c.1173A>G (p.Glu391=) c.831A>G (p.Glu277=) n.1003A>G n.515A>G n.397A>G c.975A>G (p.Glu325=) c.-4294965997A>G c.849A>G (p.Glu283=) c.777A>G (p.Glu259=) | |
7 | g.139962131A>T | CA369585293 | TBXAS1 | c.1032A>T (p.Glu344Asp) c.*821A>T (n.*821A>T) c.1170A>T (p.Glu390Asp) c.1035A>T (p.Glu345Asp) c.1173A>T (p.Glu391Asp) c.831A>T (p.Glu277Asp) n.1003A>T n.515A>T n.397A>T c.975A>T (p.Glu325Asp) c.-4294965997A>T c.849A>T (p.Glu283Asp) c.777A>T (p.Glu259Asp) | |
7 | g.139962132A= | CA1747341116 | TBXAS1 | c.1033A= (p.Ile345=) c.*822A= (n.*822A=) c.1171A= (p.Ile391=) c.1036A= (p.Ile346=) c.1174A= (p.Ile392=) c.832A= (p.Ile278=) n.1004A= n.516A= n.398A= c.976A= (p.Ile326=) c.-4294965996A= c.850A= (p.Ile284=) c.778A= (p.Ile260=) | |
7 | g.139962132A>C | CA369585296 | TBXAS1 | c.1033A>C (p.Ile345Leu) c.*822A>C (n.*822A>C) c.1171A>C (p.Ile391Leu) c.1036A>C (p.Ile346Leu) c.1174A>C (p.Ile392Leu) c.832A>C (p.Ile278Leu) n.1004A>C n.516A>C n.398A>C c.976A>C (p.Ile326Leu) c.-4294965996A>C c.850A>C (p.Ile284Leu) c.778A>C (p.Ile260Leu) | |
7 | g.139962132A>G | CA369585299 | TBXAS1 | c.1033A>G (p.Ile345Val) c.*822A>G (n.*822A>G) c.1171A>G (p.Ile391Val) c.1036A>G (p.Ile346Val) c.1174A>G (p.Ile392Val) c.832A>G (p.Ile278Val) n.1004A>G n.516A>G n.398A>G c.976A>G (p.Ile326Val) c.-4294965996A>G c.850A>G (p.Ile284Val) c.778A>G (p.Ile260Val) | dbSNP gnomAD v4 |
7 | g.139962132A>T | CA369585302 | TBXAS1 | c.1033A>T (p.Ile345Phe) c.*822A>T (n.*822A>T) c.1171A>T (p.Ile391Phe) c.1036A>T (p.Ile346Phe) c.1174A>T (p.Ile392Phe) c.832A>T (p.Ile278Phe) n.1004A>T n.516A>T n.398A>T c.976A>T (p.Ile326Phe) c.-4294965996A>T c.850A>T (p.Ile284Phe) c.778A>T (p.Ile260Phe) | |
7 | g.139962133T>A | CA369585304 | TBXAS1 | c.1034T>A (p.Ile345Asn) c.*823T>A (n.*823T>A) c.1172T>A (p.Ile391Asn) c.1037T>A (p.Ile346Asn) c.1175T>A (p.Ile392Asn) c.833T>A (p.Ile278Asn) n.1005T>A n.517T>A n.399T>A c.977T>A (p.Ile326Asn) c.-4294965995T>A c.851T>A (p.Ile284Asn) c.779T>A (p.Ile260Asn) | ClinVar |
7 | g.139962133T>C | CA369585307 | TBXAS1 | c.1034T>C (p.Ile345Thr) c.*823T>C (n.*823T>C) c.1172T>C (p.Ile391Thr) c.1037T>C (p.Ile346Thr) c.1175T>C (p.Ile392Thr) c.833T>C (p.Ile278Thr) n.1005T>C n.517T>C n.399T>C c.977T>C (p.Ile326Thr) c.-4294965995T>C c.851T>C (p.Ile284Thr) c.779T>C (p.Ile260Thr) | |
7 | g.139962133T>G | CA369585309 | TBXAS1 | c.1034T>G (p.Ile345Ser) c.*823T>G (n.*823T>G) c.1172T>G (p.Ile391Ser) c.1037T>G (p.Ile346Ser) c.1175T>G (p.Ile392Ser) c.833T>G (p.Ile278Ser) n.1005T>G n.517T>G n.399T>G c.977T>G (p.Ile326Ser) c.-4294965995T>G c.851T>G (p.Ile284Ser) c.779T>G (p.Ile260Ser) | |
7 | g.139962134C>A | CA458115532 | TBXAS1 | c.1035C>A (p.Ile345=) c.*824C>A (n.*824C>A) c.1173C>A (p.Ile391=) c.1038C>A (p.Ile346=) c.1176C>A (p.Ile392=) c.834C>A (p.Ile278=) n.1006C>A n.518C>A n.400C>A c.978C>A (p.Ile326=) c.-4294965994C>A c.852C>A (p.Ile284=) c.780C>A (p.Ile260=) | gnomAD v4 |
7 | g.139962134C= | CA1747341117 | TBXAS1 | c.1035C= (p.Ile345=) c.*824C= (n.*824C=) c.1173C= (p.Ile391=) c.1038C= (p.Ile346=) c.1176C= (p.Ile392=) c.834C= (p.Ile278=) n.1006C= n.518C= n.400C= c.978C= (p.Ile326=) c.-4294965994C= c.852C= (p.Ile284=) c.780C= (p.Ile260=) | |
7 | g.139962134C>G | CA369585311 | TBXAS1 | c.1035C>G (p.Ile345Met) c.*824C>G (n.*824C>G) c.1173C>G (p.Ile391Met) c.1038C>G (p.Ile346Met) c.1176C>G (p.Ile392Met) c.834C>G (p.Ile278Met) n.1006C>G n.518C>G n.400C>G c.978C>G (p.Ile326Met) c.-4294965994C>G c.852C>G (p.Ile284Met) c.780C>G (p.Ile260Met) | |
7 | g.139962134C>T | CA167953449 | TBXAS1 | c.1035C>T (p.Ile345=) c.*824C>T (n.*824C>T) c.1173C>T (p.Ile391=) c.1038C>T (p.Ile346=) c.1176C>T (p.Ile392=) c.834C>T (p.Ile278=) n.1006C>T n.518C>T n.400C>T c.978C>T (p.Ile326=) c.-4294965994C>T c.852C>T (p.Ile284=) c.780C>T (p.Ile260=) | dbSNP |
7 | g.139962135A>C | CA369585317 | TBXAS1 | c.1036A>C (p.Ile346Leu) c.*825A>C (n.*825A>C) c.1174A>C (p.Ile392Leu) c.1039A>C (p.Ile347Leu) c.1177A>C (p.Ile393Leu) c.835A>C (p.Ile279Leu) n.1007A>C n.519A>C n.401A>C c.979A>C (p.Ile327Leu) c.-4294965993A>C c.853A>C (p.Ile285Leu) c.781A>C (p.Ile261Leu) | gnomAD v4 |
7 | g.139962135A>G | CA369585320 | TBXAS1 | c.1036A>G (p.Ile346Val) c.*825A>G (n.*825A>G) c.1174A>G (p.Ile392Val) c.1039A>G (p.Ile347Val) c.1177A>G (p.Ile393Val) c.835A>G (p.Ile279Val) n.1007A>G n.519A>G n.401A>G c.979A>G (p.Ile327Val) c.-4294965993A>G c.853A>G (p.Ile285Val) c.781A>G (p.Ile261Val) | dbSNP |
7 | g.139962135A>T | CA369585322 | TBXAS1 | c.1036A>T (p.Ile346Phe) c.*825A>T (n.*825A>T) c.1174A>T (p.Ile392Phe) c.1039A>T (p.Ile347Phe) c.1177A>T (p.Ile393Phe) c.835A>T (p.Ile279Phe) n.1007A>T n.519A>T n.401A>T c.979A>T (p.Ile327Phe) c.-4294965993A>T c.853A>T (p.Ile285Phe) c.781A>T (p.Ile261Phe) | |
7 | g.139962136T>A | CA369585330 | TBXAS1 | c.1037T>A (p.Ile346Asn) c.*826T>A (n.*826T>A) c.1175T>A (p.Ile392Asn) c.1040T>A (p.Ile347Asn) c.1178T>A (p.Ile393Asn) c.836T>A (p.Ile279Asn) n.1008T>A n.520T>A n.402T>A c.980T>A (p.Ile327Asn) c.-4294965992T>A c.854T>A (p.Ile285Asn) c.782T>A (p.Ile261Asn) | |
7 | g.139962136T>C | CA369585328 | TBXAS1 | c.1037T>C (p.Ile346Thr) c.*826T>C (n.*826T>C) c.1175T>C (p.Ile392Thr) c.1040T>C (p.Ile347Thr) c.1178T>C (p.Ile393Thr) c.836T>C (p.Ile279Thr) n.1008T>C n.520T>C n.402T>C c.980T>C (p.Ile327Thr) c.-4294965992T>C c.854T>C (p.Ile285Thr) c.782T>C (p.Ile261Thr) | |
7 | g.139962136T>G | CA369585325 | TBXAS1 | c.1037T>G (p.Ile346Ser) c.*826T>G (n.*826T>G) c.1175T>G (p.Ile392Ser) c.1040T>G (p.Ile347Ser) c.1178T>G (p.Ile393Ser) c.836T>G (p.Ile279Ser) n.1008T>G n.520T>G n.402T>G c.980T>G (p.Ile327Ser) c.-4294965992T>G c.854T>G (p.Ile285Ser) c.782T>G (p.Ile261Ser) | |
7 | g.139962136_139962139delinsTCAC | CA1747341118 | TBXAS1 | c.1037_1040delinsTCAC (p.Ile346=) c.*826_*829delinsTCAC (n.*826_*829delinsTCAC) c.1175_1178delinsTCAC (p.Ile392=) c.1040_1043delinsTCAC (p.Ile347=) c.1178_1181delinsTCAC (p.Ile393=) c.836_839delinsTCAC (p.Ile279=) n.1008_1011delinsTCAC n.520_523delinsTCAC n.402_405delinsTCAC c.980_983delinsTCAC (p.Ile327=) c.-4294965992_-4294965989delinsTCAC c.854_857delinsTCAC (p.Ile285=) c.782_785delinsTCAC (p.Ile261=) | |
7 | g.139962137C>A | CA458115533 | TBXAS1 | c.1038C>A (p.Ile346=) c.*827C>A (n.*827C>A) c.1176C>A (p.Ile392=) c.1041C>A (p.Ile347=) c.1179C>A (p.Ile393=) c.837C>A (p.Ile279=) n.1009C>A n.521C>A n.403C>A c.981C>A (p.Ile327=) c.-4294965991C>A c.855C>A (p.Ile285=) c.783C>A (p.Ile261=) | |
7 | g.139962137C>G | CA369585333 | TBXAS1 | c.1038C>G (p.Ile346Met) c.*827C>G (n.*827C>G) c.1176C>G (p.Ile392Met) c.1041C>G (p.Ile347Met) c.1179C>G (p.Ile393Met) c.837C>G (p.Ile279Met) n.1009C>G n.521C>G n.403C>G c.981C>G (p.Ile327Met) c.-4294965991C>G c.855C>G (p.Ile285Met) c.783C>G (p.Ile261Met) | |
7 | g.139962137C>T | CA458115534 | TBXAS1 | c.1038C>T (p.Ile346=) c.*827C>T (n.*827C>T) c.1176C>T (p.Ile392=) c.1041C>T (p.Ile347=) c.1179C>T (p.Ile393=) c.837C>T (p.Ile279=) n.1009C>T n.521C>T n.403C>T c.981C>T (p.Ile327=) c.-4294965991C>T c.855C>T (p.Ile285=) c.783C>T (p.Ile261=) | gnomAD v4 COSMIC COSMIC |
7 | g.139962139_139962141del | CA1107899007 | TBXAS1 | c.1040_1042del (p.Thr347del) c.*829_*831del (n.*829_*831del) c.1178_1180del (p.Thr393del) c.1043_1045del (p.Thr348del) c.1181_1183del (p.Thr394del) c.839_841del (p.Thr280del) n.1011_1013del n.523_525del n.405_407del c.983_985del (p.Thr328del) c.-4294965989_-4294965987del c.857_859del (p.Thr286del) c.785_787del (p.Thr262del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962138A>C | CA369585336 | TBXAS1 | c.1039A>C (p.Thr347Pro) c.*828A>C (n.*828A>C) c.1177A>C (p.Thr393Pro) c.1042A>C (p.Thr348Pro) c.1180A>C (p.Thr394Pro) c.838A>C (p.Thr280Pro) n.1010A>C n.522A>C n.404A>C c.982A>C (p.Thr328Pro) c.-4294965990A>C c.856A>C (p.Thr286Pro) c.784A>C (p.Thr262Pro) | |
7 | g.139962138A>G | CA369585339 | TBXAS1 | c.1039A>G (p.Thr347Ala) c.*828A>G (n.*828A>G) c.1177A>G (p.Thr393Ala) c.1042A>G (p.Thr348Ala) c.1180A>G (p.Thr394Ala) c.838A>G (p.Thr280Ala) n.1010A>G n.522A>G n.404A>G c.982A>G (p.Thr328Ala) c.-4294965990A>G c.856A>G (p.Thr286Ala) c.784A>G (p.Thr262Ala) | gnomAD v4 |
7 | g.139962138A>T | CA369585342 | TBXAS1 | c.1039A>T (p.Thr347Ser) c.*828A>T (n.*828A>T) c.1177A>T (p.Thr393Ser) c.1042A>T (p.Thr348Ser) c.1180A>T (p.Thr394Ser) c.838A>T (p.Thr280Ser) n.1010A>T n.522A>T n.404A>T c.982A>T (p.Thr328Ser) c.-4294965990A>T c.856A>T (p.Thr286Ser) c.784A>T (p.Thr262Ser) | |
7 | g.139962139C>A | CA369585346 | TBXAS1 | c.1040C>A (p.Thr347Asn) c.*829C>A (n.*829C>A) c.1178C>A (p.Thr393Asn) c.1043C>A (p.Thr348Asn) c.1181C>A (p.Thr394Asn) c.839C>A (p.Thr280Asn) n.1011C>A n.523C>A n.405C>A c.983C>A (p.Thr328Asn) c.-4294965989C>A c.857C>A (p.Thr286Asn) c.785C>A (p.Thr262Asn) | gnomAD v4 |
7 | g.139962139C= | CA1747341119 | TBXAS1 | c.1040C= (p.Thr347=) c.*829C= (n.*829C=) c.1178C= (p.Thr393=) c.1043C= (p.Thr348=) c.1181C= (p.Thr394=) c.839C= (p.Thr280=) n.1011C= n.523C= n.405C= c.983C= (p.Thr328=) c.-4294965989C= c.857C= (p.Thr286=) c.785C= (p.Thr262=) | |
7 | g.139962139C>G | CA369585348 | TBXAS1 | c.1040C>G (p.Thr347Ser) c.*829C>G (n.*829C>G) c.1178C>G (p.Thr393Ser) c.1043C>G (p.Thr348Ser) c.1181C>G (p.Thr394Ser) c.839C>G (p.Thr280Ser) n.1011C>G n.523C>G n.405C>G c.983C>G (p.Thr328Ser) c.-4294965989C>G c.857C>G (p.Thr286Ser) c.785C>G (p.Thr262Ser) | |
7 | g.139962139C>T | CA4511874 | TBXAS1 | c.1040C>T (p.Thr347Ile) c.*829C>T (n.*829C>T) c.1178C>T (p.Thr393Ile) c.1043C>T (p.Thr348Ile) c.1181C>T (p.Thr394Ile) c.839C>T (p.Thr280Ile) n.1011C>T n.523C>T n.405C>T c.983C>T (p.Thr328Ile) c.-4294965989C>T c.857C>T (p.Thr286Ile) c.785C>T (p.Thr262Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962142_139962143insACACACCCAA | CA2778140910 | TBXAS1 | c.1043_1044insACACACCCAA (p.Asn348LysfsTer18) c.*832_*833insACACACCCAA (n.*832_*833insACACACCCAA) c.1181_1182insACACACCCAA (p.Asn394LysfsTer18) c.1046_1047insACACACCCAA (p.Asn349LysfsTer18) c.1184_1185insACACACCCAA (p.Asn395LysfsTer18) c.842_843insACACACCCAA (p.Asn281LysfsTer18) n.1014_1015insACACACCCAA n.526_527insACACACCCAA n.408_409insACACACCCAA c.986_987insACACACCCAA (p.Asn329LysfsTer18) c.-4294965986_-4294965985insACACACCCAA c.860_861insACACACCCAA (p.Asn287LysfsTer18) c.788_789insACACACCCAA (p.Asn263LysfsTer18) | |
7 | g.139962140C>A | CA458115538 | TBXAS1 | c.1041C>A (p.Thr347=) c.*830C>A (n.*830C>A) c.1179C>A (p.Thr393=) c.1044C>A (p.Thr348=) c.1182C>A (p.Thr394=) c.840C>A (p.Thr280=) n.1012C>A n.524C>A n.406C>A c.984C>A (p.Thr328=) c.-4294965988C>A c.858C>A (p.Thr286=) c.786C>A (p.Thr262=) | |
7 | g.139962140C>G | CA458115537 | TBXAS1 | c.1041C>G (p.Thr347=) c.*830C>G (n.*830C>G) c.1179C>G (p.Thr393=) c.1044C>G (p.Thr348=) c.1182C>G (p.Thr394=) c.840C>G (p.Thr280=) n.1012C>G n.524C>G n.406C>G c.984C>G (p.Thr328=) c.-4294965988C>G c.858C>G (p.Thr286=) c.786C>G (p.Thr262=) | |
7 | g.139962140C>T | CA458115536 | TBXAS1 | c.1041C>T (p.Thr347=) c.*830C>T (n.*830C>T) c.1179C>T (p.Thr393=) c.1044C>T (p.Thr348=) c.1182C>T (p.Thr394=) c.840C>T (p.Thr280=) n.1012C>T n.524C>T n.406C>T c.984C>T (p.Thr328=) c.-4294965988C>T c.858C>T (p.Thr286=) c.786C>T (p.Thr262=) | |
7 | g.139962141A>C | CA369585354 | TBXAS1 | c.1042A>C (p.Asn348His) c.*831A>C (n.*831A>C) c.1180A>C (p.Asn394His) c.1045A>C (p.Asn349His) c.1183A>C (p.Asn395His) c.841A>C (p.Asn281His) n.1013A>C n.525A>C n.407A>C c.985A>C (p.Asn329His) c.-4294965987A>C c.859A>C (p.Asn287His) c.787A>C (p.Asn263His) | |
7 | g.139962141A>G | CA369585356 | TBXAS1 | c.1042A>G (p.Asn348Asp) c.*831A>G (n.*831A>G) c.1180A>G (p.Asn394Asp) c.1045A>G (p.Asn349Asp) c.1183A>G (p.Asn395Asp) c.841A>G (p.Asn281Asp) n.1013A>G n.525A>G n.407A>G c.985A>G (p.Asn329Asp) c.-4294965987A>G c.859A>G (p.Asn287Asp) c.787A>G (p.Asn263Asp) | |
7 | g.139962141A>T | CA369585358 | TBXAS1 | c.1042A>T (p.Asn348Tyr) c.*831A>T (n.*831A>T) c.1180A>T (p.Asn394Tyr) c.1045A>T (p.Asn349Tyr) c.1183A>T (p.Asn395Tyr) c.841A>T (p.Asn281Tyr) n.1013A>T n.525A>T n.407A>T c.985A>T (p.Asn329Tyr) c.-4294965987A>T c.859A>T (p.Asn287Tyr) c.787A>T (p.Asn263Tyr) | |
7 | g.139962141_139962145delinsAACAC | CA1747341120 | TBXAS1 | c.1042_1046delinsAACAC (p.Asn348=) c.*831_*835delinsAACAC (n.*831_*835delinsAACAC) c.1180_1184delinsAACAC (p.Asn394=) c.1045_1049delinsAACAC (p.Asn349=) c.1183_1187delinsAACAC (p.Asn395=) c.841_845delinsAACAC (p.Asn281=) n.1013_1017delinsAACAC n.525_529delinsAACAC n.407_411delinsAACAC c.985_989delinsAACAC (p.Asn329=) c.-4294965987_-4294965983delinsAACAC c.859_863delinsAACAC (p.Asn287=) c.787_791delinsAACAC (p.Asn263=) | |
7 | g.139962142A= | CA1747341122 | TBXAS1 | c.1043A= (p.Asn348=) c.*832A= (n.*832A=) c.1181A= (p.Asn394=) c.1046A= (p.Asn349=) c.1184A= (p.Asn395=) c.842A= (p.Asn281=) n.1014A= n.526A= n.408A= c.986A= (p.Asn329=) c.-4294965986A= c.860A= (p.Asn287=) c.788A= (p.Asn263=) | |
7 | g.139962142A>C | CA369585362 | TBXAS1 | c.1043A>C (p.Asn348Thr) c.*832A>C (n.*832A>C) c.1181A>C (p.Asn394Thr) c.1046A>C (p.Asn349Thr) c.1184A>C (p.Asn395Thr) c.842A>C (p.Asn281Thr) n.1014A>C n.526A>C n.408A>C c.986A>C (p.Asn329Thr) c.-4294965986A>C c.860A>C (p.Asn287Thr) c.788A>C (p.Asn263Thr) | |
7 | g.139962142A>G | CA369585365 | TBXAS1 | c.1043A>G (p.Asn348Ser) c.*832A>G (n.*832A>G) c.1181A>G (p.Asn394Ser) c.1046A>G (p.Asn349Ser) c.1184A>G (p.Asn395Ser) c.842A>G (p.Asn281Ser) n.1014A>G n.526A>G n.408A>G c.986A>G (p.Asn329Ser) c.-4294965986A>G c.860A>G (p.Asn287Ser) c.788A>G (p.Asn263Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962142A>T | CA369585367 | TBXAS1 | c.1043A>T (p.Asn348Ile) c.*832A>T (n.*832A>T) c.1181A>T (p.Asn394Ile) c.1046A>T (p.Asn349Ile) c.1184A>T (p.Asn395Ile) c.842A>T (p.Asn281Ile) n.1014A>T n.526A>T n.408A>T c.986A>T (p.Asn329Ile) c.-4294965986A>T c.860A>T (p.Asn287Ile) c.788A>T (p.Asn263Ile) | |
7 | g.139962144_139962147del | CA1747341121 | TBXAS1 | c.1045_1048del (p.Thr349PhefsTer19) c.*834_*837del (n.*834_*837del) c.1183_1186del (p.Thr395PhefsTer19) c.1048_1051del (p.Thr350PhefsTer19) c.1186_1189del (p.Thr396PhefsTer19) c.844_847del (p.Thr282PhefsTer19) n.1016_1019del n.528_531del n.410_413del c.988_991del (p.Thr330PhefsTer19) c.-4294965984_-4294965981del c.862_865del (p.Thr288PhefsTer19) c.790_793del (p.Thr264PhefsTer19) | dbSNP |
7 | g.139962143C>A | CA369585373 | TBXAS1 | c.1044C>A (p.Asn348Lys) c.*833C>A (n.*833C>A) c.1182C>A (p.Asn394Lys) c.1047C>A (p.Asn349Lys) c.1185C>A (p.Asn395Lys) c.843C>A (p.Asn281Lys) n.1015C>A n.527C>A n.409C>A c.987C>A (p.Asn329Lys) c.-4294965985C>A c.861C>A (p.Asn287Lys) c.789C>A (p.Asn263Lys) | |
7 | g.139962143C>G | CA369585371 | TBXAS1 | c.1044C>G (p.Asn348Lys) c.*833C>G (n.*833C>G) c.1182C>G (p.Asn394Lys) c.1047C>G (p.Asn349Lys) c.1185C>G (p.Asn395Lys) c.843C>G (p.Asn281Lys) n.1015C>G n.527C>G n.409C>G c.987C>G (p.Asn329Lys) c.-4294965985C>G c.861C>G (p.Asn287Lys) c.789C>G (p.Asn263Lys) | |
7 | g.139962143C>T | CA458115539 | TBXAS1 | c.1044C>T (p.Asn348=) c.*833C>T (n.*833C>T) c.1182C>T (p.Asn394=) c.1047C>T (p.Asn349=) c.1185C>T (p.Asn395=) c.843C>T (p.Asn281=) n.1015C>T n.527C>T n.409C>T c.987C>T (p.Asn329=) c.-4294965985C>T c.861C>T (p.Asn287=) c.789C>T (p.Asn263=) | |
7 | g.139962144A>C | CA369585377 | TBXAS1 | c.1045A>C (p.Thr349Pro) c.*834A>C (n.*834A>C) c.1183A>C (p.Thr395Pro) c.1048A>C (p.Thr350Pro) c.1186A>C (p.Thr396Pro) c.844A>C (p.Thr282Pro) n.1016A>C n.528A>C n.410A>C c.988A>C (p.Thr330Pro) c.-4294965984A>C c.862A>C (p.Thr288Pro) c.790A>C (p.Thr264Pro) | |
7 | g.139962144A>G | CA369585383 | TBXAS1 | c.1045A>G (p.Thr349Ala) c.*834A>G (n.*834A>G) c.1183A>G (p.Thr395Ala) c.1048A>G (p.Thr350Ala) c.1186A>G (p.Thr396Ala) c.844A>G (p.Thr282Ala) n.1016A>G n.528A>G n.410A>G c.988A>G (p.Thr330Ala) c.-4294965984A>G c.862A>G (p.Thr288Ala) c.790A>G (p.Thr264Ala) | |
7 | g.139962144A>T | CA369585380 | TBXAS1 | c.1045A>T (p.Thr349Ser) c.*834A>T (n.*834A>T) c.1183A>T (p.Thr395Ser) c.1048A>T (p.Thr350Ser) c.1186A>T (p.Thr396Ser) c.844A>T (p.Thr282Ser) n.1016A>T n.528A>T n.410A>T c.988A>T (p.Thr330Ser) c.-4294965984A>T c.862A>T (p.Thr288Ser) c.790A>T (p.Thr264Ser) | |
7 | g.139962145C>A | CA369585387 | TBXAS1 | c.1046C>A (p.Thr349Lys) c.*835C>A (n.*835C>A) c.1184C>A (p.Thr395Lys) c.1049C>A (p.Thr350Lys) c.1187C>A (p.Thr396Lys) c.845C>A (p.Thr282Lys) n.1017C>A n.529C>A n.411C>A c.989C>A (p.Thr330Lys) c.-4294965983C>A c.863C>A (p.Thr288Lys) c.791C>A (p.Thr264Lys) | |
7 | g.139962145C= | CA1747341123 | TBXAS1 | c.1046C= (p.Thr349=) c.*835C= (n.*835C=) c.1184C= (p.Thr395=) c.1049C= (p.Thr350=) c.1187C= (p.Thr396=) c.845C= (p.Thr282=) n.1017C= n.529C= n.411C= c.989C= (p.Thr330=) c.-4294965983C= c.863C= (p.Thr288=) c.791C= (p.Thr264=) | |
7 | g.139962145C>G | CA369585392 | TBXAS1 | c.1046C>G (p.Thr349Arg) c.*835C>G (n.*835C>G) c.1184C>G (p.Thr395Arg) c.1049C>G (p.Thr350Arg) c.1187C>G (p.Thr396Arg) c.845C>G (p.Thr282Arg) n.1017C>G n.529C>G n.411C>G c.989C>G (p.Thr330Arg) c.-4294965983C>G c.863C>G (p.Thr288Arg) c.791C>G (p.Thr264Arg) | |
7 | g.139962145C>T | CA369585389 | TBXAS1 | c.1046C>T (p.Thr349Ile) c.*835C>T (n.*835C>T) c.1184C>T (p.Thr395Ile) c.1049C>T (p.Thr350Ile) c.1187C>T (p.Thr396Ile) c.845C>T (p.Thr282Ile) n.1017C>T n.529C>T n.411C>T c.989C>T (p.Thr330Ile) c.-4294965983C>T c.863C>T (p.Thr288Ile) c.791C>T (p.Thr264Ile) | dbSNP gnomAD v2 |
7 | g.139962146A= | CA1747341124 | TBXAS1 | c.1047A= (p.Thr349=) c.*836A= (n.*836A=) c.1185A= (p.Thr395=) c.1050A= (p.Thr350=) c.1188A= (p.Thr396=) c.846A= (p.Thr282=) n.1018A= n.530A= n.412A= c.990A= (p.Thr330=) c.-4294965982A= c.864A= (p.Thr288=) c.792A= (p.Thr264=) | |
7 | g.139962146A>C | CA458115541 | TBXAS1 | c.1047A>C (p.Thr349=) c.*836A>C (n.*836A>C) c.1185A>C (p.Thr395=) c.1050A>C (p.Thr350=) c.1188A>C (p.Thr396=) c.846A>C (p.Thr282=) n.1018A>C n.530A>C n.412A>C c.990A>C (p.Thr330=) c.-4294965982A>C c.864A>C (p.Thr288=) c.792A>C (p.Thr264=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962146A>G | CA458115543 | TBXAS1 | c.1047A>G (p.Thr349=) c.*836A>G (n.*836A>G) c.1185A>G (p.Thr395=) c.1050A>G (p.Thr350=) c.1188A>G (p.Thr396=) c.846A>G (p.Thr282=) n.1018A>G n.530A>G n.412A>G c.990A>G (p.Thr330=) c.-4294965982A>G c.864A>G (p.Thr288=) c.792A>G (p.Thr264=) | |
7 | g.139962146A>T | CA458115542 | TBXAS1 | c.1047A>T (p.Thr349=) c.*836A>T (n.*836A>T) c.1185A>T (p.Thr395=) c.1050A>T (p.Thr350=) c.1188A>T (p.Thr396=) c.846A>T (p.Thr282=) n.1018A>T n.530A>T n.412A>T c.990A>T (p.Thr330=) c.-4294965982A>T c.864A>T (p.Thr288=) c.792A>T (p.Thr264=) | gnomAD v4 |
7 | g.139962147C>A | CA369585396 | TBXAS1 | c.1048C>A (p.Leu350Ile) c.*837C>A (n.*837C>A) c.1186C>A (p.Leu396Ile) c.1051C>A (p.Leu351Ile) c.1189C>A (p.Leu397Ile) c.847C>A (p.Leu283Ile) n.1019C>A n.531C>A n.413C>A c.991C>A (p.Leu331Ile) c.-4294965981C>A c.865C>A (p.Leu289Ile) c.793C>A (p.Leu265Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962147C= | CA1747341125 | TBXAS1 | c.1048C= (p.Leu350=) c.*837C= (n.*837C=) c.1186C= (p.Leu396=) c.1051C= (p.Leu351=) c.1189C= (p.Leu397=) c.847C= (p.Leu283=) n.1019C= n.531C= n.413C= c.991C= (p.Leu331=) c.-4294965981C= c.865C= (p.Leu289=) c.793C= (p.Leu265=) | |
7 | g.139962147C>G | CA369585399 | TBXAS1 | c.1048C>G (p.Leu350Val) c.*837C>G (n.*837C>G) c.1186C>G (p.Leu396Val) c.1051C>G (p.Leu351Val) c.1189C>G (p.Leu397Val) c.847C>G (p.Leu283Val) n.1019C>G n.531C>G n.413C>G c.991C>G (p.Leu331Val) c.-4294965981C>G c.865C>G (p.Leu289Val) c.793C>G (p.Leu265Val) | |
7 | g.139962147C>T | CA369585401 | TBXAS1 | c.1048C>T (p.Leu350Phe) c.*837C>T (n.*837C>T) c.1186C>T (p.Leu396Phe) c.1051C>T (p.Leu351Phe) c.1189C>T (p.Leu397Phe) c.847C>T (p.Leu283Phe) n.1019C>T n.531C>T n.413C>T c.991C>T (p.Leu331Phe) c.-4294965981C>T c.865C>T (p.Leu289Phe) c.793C>T (p.Leu265Phe) | gnomAD v4 |
7 | g.139962148T>A | CA369585404 | TBXAS1 | c.1049T>A (p.Leu350His) c.*838T>A (n.*838T>A) c.1187T>A (p.Leu396His) c.1052T>A (p.Leu351His) c.1190T>A (p.Leu397His) c.848T>A (p.Leu283His) n.1020T>A n.532T>A n.414T>A c.992T>A (p.Leu331His) c.-4294965980T>A c.866T>A (p.Leu289His) c.794T>A (p.Leu265His) | |
7 | g.139962148T>C | CA167953450 | TBXAS1 | c.1049T>C (p.Leu350Pro) c.*838T>C (n.*838T>C) c.1187T>C (p.Leu396Pro) c.1052T>C (p.Leu351Pro) c.1190T>C (p.Leu397Pro) c.848T>C (p.Leu283Pro) n.1020T>C n.532T>C n.414T>C c.992T>C (p.Leu331Pro) c.-4294965980T>C c.866T>C (p.Leu289Pro) c.794T>C (p.Leu265Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962148T>G | CA369585409 | TBXAS1 | c.1049T>G (p.Leu350Arg) c.*838T>G (n.*838T>G) c.1187T>G (p.Leu396Arg) c.1052T>G (p.Leu351Arg) c.1190T>G (p.Leu397Arg) c.848T>G (p.Leu283Arg) n.1020T>G n.532T>G n.414T>G c.992T>G (p.Leu331Arg) c.-4294965980T>G c.866T>G (p.Leu289Arg) c.794T>G (p.Leu265Arg) | |
7 | g.139962148T= | CA1747341126 | TBXAS1 | c.1049T= (p.Leu350=) c.*838T= (n.*838T=) c.1187T= (p.Leu396=) c.1052T= (p.Leu351=) c.1190T= (p.Leu397=) c.848T= (p.Leu283=) n.1020T= n.532T= n.414T= c.992T= (p.Leu331=) c.-4294965980T= c.866T= (p.Leu289=) c.794T= (p.Leu265=) | |
7 | g.139962149T>A | CA458115545 | TBXAS1 | c.1050T>A (p.Leu350=) c.*839T>A (n.*839T>A) c.1188T>A (p.Leu396=) c.1053T>A (p.Leu351=) c.1191T>A (p.Leu397=) c.849T>A (p.Leu283=) n.1021T>A n.533T>A n.415T>A c.993T>A (p.Leu331=) c.-4294965979T>A c.867T>A (p.Leu289=) c.795T>A (p.Leu265=) | |
7 | g.139962149T>C | CA458115546 | TBXAS1 | c.1050T>C (p.Leu350=) c.*839T>C (n.*839T>C) c.1188T>C (p.Leu396=) c.1053T>C (p.Leu351=) c.1191T>C (p.Leu397=) c.849T>C (p.Leu283=) n.1021T>C n.533T>C n.415T>C c.993T>C (p.Leu331=) c.-4294965979T>C c.867T>C (p.Leu289=) c.795T>C (p.Leu265=) | |
7 | g.139962149T>G | CA458115547 | TBXAS1 | c.1050T>G (p.Leu350=) c.*839T>G (n.*839T>G) c.1188T>G (p.Leu396=) c.1053T>G (p.Leu351=) c.1191T>G (p.Leu397=) c.849T>G (p.Leu283=) n.1021T>G n.533T>G n.415T>G c.993T>G (p.Leu331=) c.-4294965979T>G c.867T>G (p.Leu289=) c.795T>G (p.Leu265=) | |
7 | g.139962150T>A | CA369585413 | TBXAS1 | c.1051T>A (p.Ser351Thr) c.*840T>A (n.*840T>A) c.1189T>A (p.Ser397Thr) c.1054T>A (p.Ser352Thr) c.1192T>A (p.Ser398Thr) c.850T>A (p.Ser284Thr) n.1022T>A n.534T>A n.416T>A c.994T>A (p.Ser332Thr) c.-4294965978T>A c.868T>A (p.Ser290Thr) c.796T>A (p.Ser266Thr) | |
7 | g.139962150T>C | CA369585414 | TBXAS1 | c.1051T>C (p.Ser351Pro) c.*840T>C (n.*840T>C) c.1189T>C (p.Ser397Pro) c.1054T>C (p.Ser352Pro) c.1192T>C (p.Ser398Pro) c.850T>C (p.Ser284Pro) n.1022T>C n.534T>C n.416T>C c.994T>C (p.Ser332Pro) c.-4294965978T>C c.868T>C (p.Ser290Pro) c.796T>C (p.Ser266Pro) | dbSNP |
7 | g.139962150T>G | CA369585416 | TBXAS1 | c.1051T>G (p.Ser351Ala) c.*840T>G (n.*840T>G) c.1189T>G (p.Ser397Ala) c.1054T>G (p.Ser352Ala) c.1192T>G (p.Ser398Ala) c.850T>G (p.Ser284Ala) n.1022T>G n.534T>G n.416T>G c.994T>G (p.Ser332Ala) c.-4294965978T>G c.868T>G (p.Ser290Ala) c.796T>G (p.Ser266Ala) | |
7 | g.139962150T= | CA1747341127 | TBXAS1 | c.1051T= (p.Ser351=) c.*840T= (n.*840T=) c.1189T= (p.Ser397=) c.1054T= (p.Ser352=) c.1192T= (p.Ser398=) c.850T= (p.Ser284=) n.1022T= n.534T= n.416T= c.994T= (p.Ser332=) c.-4294965978T= c.868T= (p.Ser290=) c.796T= (p.Ser266=) | |
7 | g.139962151C>A | CA369585424 | TBXAS1 | c.1052C>A (p.Ser351Tyr) c.*841C>A (n.*841C>A) c.1190C>A (p.Ser397Tyr) c.1055C>A (p.Ser352Tyr) c.1193C>A (p.Ser398Tyr) c.851C>A (p.Ser284Tyr) n.1023C>A n.535C>A n.417C>A c.995C>A (p.Ser332Tyr) c.-4294965977C>A c.869C>A (p.Ser290Tyr) c.797C>A (p.Ser266Tyr) | gnomAD v4 |
7 | g.139962151C>G | CA369585421 | TBXAS1 | c.1052C>G (p.Ser351Cys) c.*841C>G (n.*841C>G) c.1190C>G (p.Ser397Cys) c.1055C>G (p.Ser352Cys) c.1193C>G (p.Ser398Cys) c.851C>G (p.Ser284Cys) n.1023C>G n.535C>G n.417C>G c.995C>G (p.Ser332Cys) c.-4294965977C>G c.869C>G (p.Ser290Cys) c.797C>G (p.Ser266Cys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962151C>T | CA369585420 | TBXAS1 | c.1052C>T (p.Ser351Phe) c.*841C>T (n.*841C>T) c.1190C>T (p.Ser397Phe) c.1055C>T (p.Ser352Phe) c.1193C>T (p.Ser398Phe) c.851C>T (p.Ser284Phe) n.1023C>T n.535C>T n.417C>T c.995C>T (p.Ser332Phe) c.-4294965977C>T c.869C>T (p.Ser290Phe) c.797C>T (p.Ser266Phe) | |
7 | g.139962152T>A | CA458115550 | TBXAS1 | c.1053T>A (p.Ser351=) c.*842T>A (n.*842T>A) c.1191T>A (p.Ser397=) c.1056T>A (p.Ser352=) c.1194T>A (p.Ser398=) c.852T>A (p.Ser284=) n.1024T>A n.536T>A n.418T>A c.996T>A (p.Ser332=) c.-4294965976T>A c.870T>A (p.Ser290=) c.798T>A (p.Ser266=) | |
7 | g.139962152T>C | CA458115551 | TBXAS1 | c.1053T>C (p.Ser351=) c.*842T>C (n.*842T>C) c.1191T>C (p.Ser397=) c.1056T>C (p.Ser352=) c.1194T>C (p.Ser398=) c.852T>C (p.Ser284=) n.1024T>C n.536T>C n.418T>C c.996T>C (p.Ser332=) c.-4294965976T>C c.870T>C (p.Ser290=) c.798T>C (p.Ser266=) | |
7 | g.139962152T>G | CA458115552 | TBXAS1 | c.1053T>G (p.Ser351=) c.*842T>G (n.*842T>G) c.1191T>G (p.Ser397=) c.1056T>G (p.Ser352=) c.1194T>G (p.Ser398=) c.852T>G (p.Ser284=) n.1024T>G n.536T>G n.418T>G c.996T>G (p.Ser332=) c.-4294965976T>G c.870T>G (p.Ser290=) c.798T>G (p.Ser266=) | |
7 | g.139962153T>A | CA369585427 | TBXAS1 | c.1054T>A (p.Phe352Ile) c.*843T>A (n.*843T>A) c.1192T>A (p.Phe398Ile) c.1057T>A (p.Phe353Ile) c.1195T>A (p.Phe399Ile) c.853T>A (p.Phe285Ile) n.1025T>A n.537T>A n.419T>A c.997T>A (p.Phe333Ile) c.-4294965975T>A c.871T>A (p.Phe291Ile) c.799T>A (p.Phe267Ile) | gnomAD v4 |
7 | g.139962153T>C | CA369585430 | TBXAS1 | c.1054T>C (p.Phe352Leu) c.*843T>C (n.*843T>C) c.1192T>C (p.Phe398Leu) c.1057T>C (p.Phe353Leu) c.1195T>C (p.Phe399Leu) c.853T>C (p.Phe285Leu) n.1025T>C n.537T>C n.419T>C c.997T>C (p.Phe333Leu) c.-4294965975T>C c.871T>C (p.Phe291Leu) c.799T>C (p.Phe267Leu) | |
7 | g.139962153T>G | CA369585432 | TBXAS1 | c.1054T>G (p.Phe352Val) c.*843T>G (n.*843T>G) c.1192T>G (p.Phe398Val) c.1057T>G (p.Phe353Val) c.1195T>G (p.Phe399Val) c.853T>G (p.Phe285Val) n.1025T>G n.537T>G n.419T>G c.997T>G (p.Phe333Val) c.-4294965975T>G c.871T>G (p.Phe291Val) c.799T>G (p.Phe267Val) | |
7 | g.139962154T>A | CA369585436 | TBXAS1 | c.1055T>A (p.Phe352Tyr) c.*844T>A (n.*844T>A) c.1193T>A (p.Phe398Tyr) c.1058T>A (p.Phe353Tyr) c.1196T>A (p.Phe399Tyr) c.854T>A (p.Phe285Tyr) n.1026T>A n.538T>A n.420T>A c.998T>A (p.Phe333Tyr) c.-4294965974T>A c.872T>A (p.Phe291Tyr) c.800T>A (p.Phe267Tyr) | |
7 | g.139962154T>C | CA369585439 | TBXAS1 | c.1055T>C (p.Phe352Ser) c.*844T>C (n.*844T>C) c.1193T>C (p.Phe398Ser) c.1058T>C (p.Phe353Ser) c.1196T>C (p.Phe399Ser) c.854T>C (p.Phe285Ser) n.1026T>C n.538T>C n.420T>C c.998T>C (p.Phe333Ser) c.-4294965974T>C c.872T>C (p.Phe291Ser) c.800T>C (p.Phe267Ser) | |
7 | g.139962154T>G | CA369585441 | TBXAS1 | c.1055T>G (p.Phe352Cys) c.*844T>G (n.*844T>G) c.1193T>G (p.Phe398Cys) c.1058T>G (p.Phe353Cys) c.1196T>G (p.Phe399Cys) c.854T>G (p.Phe285Cys) n.1026T>G n.538T>G n.420T>G c.998T>G (p.Phe333Cys) c.-4294965974T>G c.872T>G (p.Phe291Cys) c.800T>G (p.Phe267Cys) | |
7 | g.139962155T>A | CA369585445 | TBXAS1 | c.1056T>A (p.Phe352Leu) c.*845T>A (n.*845T>A) c.1194T>A (p.Phe398Leu) c.1059T>A (p.Phe353Leu) c.1197T>A (p.Phe399Leu) c.855T>A (p.Phe285Leu) n.1027T>A n.539T>A n.421T>A c.999T>A (p.Phe333Leu) c.-4294965973T>A c.873T>A (p.Phe291Leu) c.801T>A (p.Phe267Leu) | |
7 | g.139962155T>C | CA458115555 | TBXAS1 | c.1056T>C (p.Phe352=) c.*845T>C (n.*845T>C) c.1194T>C (p.Phe398=) c.1059T>C (p.Phe353=) c.1197T>C (p.Phe399=) c.855T>C (p.Phe285=) n.1027T>C n.539T>C n.421T>C c.999T>C (p.Phe333=) c.-4294965973T>C c.873T>C (p.Phe291=) c.801T>C (p.Phe267=) | |
7 | g.139962155T>G | CA369585447 | TBXAS1 | c.1056T>G (p.Phe352Leu) c.*845T>G (n.*845T>G) c.1194T>G (p.Phe398Leu) c.1059T>G (p.Phe353Leu) c.1197T>G (p.Phe399Leu) c.855T>G (p.Phe285Leu) n.1027T>G n.539T>G n.421T>G c.999T>G (p.Phe333Leu) c.-4294965973T>G c.873T>G (p.Phe291Leu) c.801T>G (p.Phe267Leu) | |
7 | g.139962156G>A | CA369585450 | TBXAS1 | c.1057G>A (p.Ala353Thr) c.*846G>A (n.*846G>A) c.1195G>A (p.Ala399Thr) c.1060G>A (p.Ala354Thr) c.1198G>A (p.Ala400Thr) c.856G>A (p.Ala286Thr) n.1028G>A n.540G>A n.422G>A c.1000G>A (p.Ala334Thr) c.-4294965972G>A c.874G>A (p.Ala292Thr) c.802G>A (p.Ala268Thr) | |
7 | g.139962156G>C | CA369585453 | TBXAS1 | c.1057G>C (p.Ala353Pro) c.*846G>C (n.*846G>C) c.1195G>C (p.Ala399Pro) c.1060G>C (p.Ala354Pro) c.1198G>C (p.Ala400Pro) c.856G>C (p.Ala286Pro) n.1028G>C n.540G>C n.422G>C c.1000G>C (p.Ala334Pro) c.-4294965972G>C c.874G>C (p.Ala292Pro) c.802G>C (p.Ala268Pro) | |
7 | g.139962156G= | CA1747341128 | TBXAS1 | c.1057G= (p.Ala353=) c.*846G= (n.*846G=) c.1195G= (p.Ala399=) c.1060G= (p.Ala354=) c.1198G= (p.Ala400=) c.856G= (p.Ala286=) n.1028G= n.540G= n.422G= c.1000G= (p.Ala334=) c.-4294965972G= c.874G= (p.Ala292=) c.802G= (p.Ala268=) | |
7 | g.139962156G>T | CA4511875 | TBXAS1 | c.1057G>T (p.Ala353Ser) c.*846G>T (n.*846G>T) c.1195G>T (p.Ala399Ser) c.1060G>T (p.Ala354Ser) c.1198G>T (p.Ala400Ser) c.856G>T (p.Ala286Ser) n.1028G>T n.540G>T n.422G>T c.1000G>T (p.Ala334Ser) c.-4294965972G>T c.874G>T (p.Ala292Ser) c.802G>T (p.Ala268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962157C>A | CA369585461 | TBXAS1 | c.1058C>A (p.Ala353Asp) c.*847C>A (n.*847C>A) c.1196C>A (p.Ala399Asp) c.1061C>A (p.Ala354Asp) c.1199C>A (p.Ala400Asp) c.857C>A (p.Ala286Asp) n.1029C>A n.541C>A n.423C>A c.1001C>A (p.Ala334Asp) c.-4294965971C>A c.875C>A (p.Ala292Asp) c.803C>A (p.Ala268Asp) | |
7 | g.139962157C>G | CA369585462 | TBXAS1 | c.1058C>G (p.Ala353Gly) c.*847C>G (n.*847C>G) c.1196C>G (p.Ala399Gly) c.1061C>G (p.Ala354Gly) c.1199C>G (p.Ala400Gly) c.857C>G (p.Ala286Gly) n.1029C>G n.541C>G n.423C>G c.1001C>G (p.Ala334Gly) c.-4294965971C>G c.875C>G (p.Ala292Gly) c.803C>G (p.Ala268Gly) | |
7 | g.139962157C>T | CA369585459 | TBXAS1 | c.1058C>T (p.Ala353Val) c.*847C>T (n.*847C>T) c.1196C>T (p.Ala399Val) c.1061C>T (p.Ala354Val) c.1199C>T (p.Ala400Val) c.857C>T (p.Ala286Val) n.1029C>T n.541C>T n.423C>T c.1001C>T (p.Ala334Val) c.-4294965971C>T c.875C>T (p.Ala292Val) c.803C>T (p.Ala268Val) | |
7 | g.139962158C>A | CA458115556 | TBXAS1 | c.1059C>A (p.Ala353=) c.*848C>A (n.*848C>A) c.1197C>A (p.Ala399=) c.1062C>A (p.Ala354=) c.1200C>A (p.Ala400=) c.858C>A (p.Ala286=) n.1030C>A n.542C>A n.424C>A c.1002C>A (p.Ala334=) c.-4294965970C>A c.876C>A (p.Ala292=) c.804C>A (p.Ala268=) | |
7 | g.139962158C= | CA1747341129 | TBXAS1 | c.1059C= (p.Ala353=) c.*848C= (n.*848C=) c.1197C= (p.Ala399=) c.1062C= (p.Ala354=) c.1200C= (p.Ala400=) c.858C= (p.Ala286=) n.1030C= n.542C= n.424C= c.1002C= (p.Ala334=) c.-4294965970C= c.876C= (p.Ala292=) c.804C= (p.Ala268=) | |
7 | g.139962158C>G | CA458115557 | TBXAS1 | c.1059C>G (p.Ala353=) c.*848C>G (n.*848C>G) c.1197C>G (p.Ala399=) c.1062C>G (p.Ala354=) c.1200C>G (p.Ala400=) c.858C>G (p.Ala286=) n.1030C>G n.542C>G n.424C>G c.1002C>G (p.Ala334=) c.-4294965970C>G c.876C>G (p.Ala292=) c.804C>G (p.Ala268=) | |
7 | g.139962158C>T | CA458115558 | TBXAS1 | c.1059C>T (p.Ala353=) c.*848C>T (n.*848C>T) c.1197C>T (p.Ala399=) c.1062C>T (p.Ala354=) c.1200C>T (p.Ala400=) c.858C>T (p.Ala286=) n.1030C>T n.542C>T n.424C>T c.1002C>T (p.Ala334=) c.-4294965970C>T c.876C>T (p.Ala292=) c.804C>T (p.Ala268=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962159A>C | CA369585463 | TBXAS1 | c.1060A>C (p.Thr354Pro) c.*849A>C (n.*849A>C) c.1198A>C (p.Thr400Pro) c.1063A>C (p.Thr355Pro) c.1201A>C (p.Thr401Pro) c.859A>C (p.Thr287Pro) n.1031A>C n.543A>C n.425A>C c.1003A>C (p.Thr335Pro) c.-4294965969A>C c.877A>C (p.Thr293Pro) c.805A>C (p.Thr269Pro) | |
7 | g.139962159A>G | CA369585464 | TBXAS1 | c.1060A>G (p.Thr354Ala) c.*849A>G (n.*849A>G) c.1198A>G (p.Thr400Ala) c.1063A>G (p.Thr355Ala) c.1201A>G (p.Thr401Ala) c.859A>G (p.Thr287Ala) n.1031A>G n.543A>G n.425A>G c.1003A>G (p.Thr335Ala) c.-4294965969A>G c.877A>G (p.Thr293Ala) c.805A>G (p.Thr269Ala) | |
7 | g.139962159A>T | CA369585465 | TBXAS1 | c.1060A>T (p.Thr354Ser) c.*849A>T (n.*849A>T) c.1198A>T (p.Thr400Ser) c.1063A>T (p.Thr355Ser) c.1201A>T (p.Thr401Ser) c.859A>T (p.Thr287Ser) n.1031A>T n.543A>T n.425A>T c.1003A>T (p.Thr335Ser) c.-4294965969A>T c.877A>T (p.Thr293Ser) c.805A>T (p.Thr269Ser) | |
7 | g.139962165_139962168del | CA2579039960 | TBXAS1 | c.1066_1069del (p.Leu356TrpfsTer12) c.*855_*858del (n.*855_*858del) c.1204_1207del (p.Leu402TrpfsTer12) c.1069_1072del (p.Leu357TrpfsTer12) c.1207_1210del (p.Leu403TrpfsTer12) c.865_868del (p.Leu289TrpfsTer12) n.1037_1040del n.549_552del n.431_434del c.1009_1012del (p.Leu337TrpfsTer12) c.-4294965963_-4294965960del c.883_886del (p.Leu295TrpfsTer12) c.811_814del (p.Leu271TrpfsTer12) | |
7 | g.139962160C>A | CA369585466 | TBXAS1 | c.1061C>A (p.Thr354Asn) c.*850C>A (n.*850C>A) c.1199C>A (p.Thr400Asn) c.1064C>A (p.Thr355Asn) c.1202C>A (p.Thr401Asn) c.860C>A (p.Thr287Asn) n.1032C>A n.544C>A n.426C>A c.1004C>A (p.Thr335Asn) c.-4294965968C>A c.878C>A (p.Thr293Asn) c.806C>A (p.Thr269Asn) | |
7 | g.139962160C= | CA1747341130 | TBXAS1 | c.1061C= (p.Thr354=) c.*850C= (n.*850C=) c.1199C= (p.Thr400=) c.1064C= (p.Thr355=) c.1202C= (p.Thr401=) c.860C= (p.Thr287=) n.1032C= n.544C= n.426C= c.1004C= (p.Thr335=) c.-4294965968C= c.878C= (p.Thr293=) c.806C= (p.Thr269=) | |
7 | g.139962160C>G | CA4511876 | TBXAS1 | c.1061C>G (p.Thr354Ser) c.*850C>G (n.*850C>G) c.1199C>G (p.Thr400Ser) c.1064C>G (p.Thr355Ser) c.1202C>G (p.Thr401Ser) c.860C>G (p.Thr287Ser) n.1032C>G n.544C>G n.426C>G c.1004C>G (p.Thr335Ser) c.-4294965968C>G c.878C>G (p.Thr293Ser) c.806C>G (p.Thr269Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962160C>T | CA369585467 | TBXAS1 | c.1061C>T (p.Thr354Ile) c.*850C>T (n.*850C>T) c.1199C>T (p.Thr400Ile) c.1064C>T (p.Thr355Ile) c.1202C>T (p.Thr401Ile) c.860C>T (p.Thr287Ile) n.1032C>T n.544C>T n.426C>T c.1004C>T (p.Thr335Ile) c.-4294965968C>T c.878C>T (p.Thr293Ile) c.806C>T (p.Thr269Ile) | |
7 | g.139962161C>A | CA458115560 | TBXAS1 | c.1062C>A (p.Thr354=) c.*851C>A (n.*851C>A) c.1200C>A (p.Thr400=) c.1065C>A (p.Thr355=) c.1203C>A (p.Thr401=) c.861C>A (p.Thr287=) n.1033C>A n.545C>A n.427C>A c.1005C>A (p.Thr335=) c.-4294965967C>A c.879C>A (p.Thr293=) c.807C>A (p.Thr269=) | |
7 | g.139962161C>G | CA458115561 | TBXAS1 | c.1062C>G (p.Thr354=) c.*851C>G (n.*851C>G) c.1200C>G (p.Thr400=) c.1065C>G (p.Thr355=) c.1203C>G (p.Thr401=) c.861C>G (p.Thr287=) n.1033C>G n.545C>G n.427C>G c.1005C>G (p.Thr335=) c.-4294965967C>G c.879C>G (p.Thr293=) c.807C>G (p.Thr269=) | |
7 | g.139962161C>T | CA458115562 | TBXAS1 | c.1062C>T (p.Thr354=) c.*851C>T (n.*851C>T) c.1200C>T (p.Thr400=) c.1065C>T (p.Thr355=) c.1203C>T (p.Thr401=) c.861C>T (p.Thr287=) n.1033C>T n.545C>T n.427C>T c.1005C>T (p.Thr335=) c.-4294965967C>T c.879C>T (p.Thr293=) c.807C>T (p.Thr269=) | |
7 | g.139962162T>A | CA369585468 | TBXAS1 | c.1063T>A (p.Tyr355Asn) c.*852T>A (n.*852T>A) c.1201T>A (p.Tyr401Asn) c.1066T>A (p.Tyr356Asn) c.1204T>A (p.Tyr402Asn) c.862T>A (p.Tyr288Asn) n.1034T>A n.546T>A n.428T>A c.1006T>A (p.Tyr336Asn) c.-4294965966T>A c.880T>A (p.Tyr294Asn) c.808T>A (p.Tyr270Asn) | |
7 | g.139962162T>C | CA4511877 | TBXAS1 | c.1063T>C (p.Tyr355His) c.*852T>C (n.*852T>C) c.1201T>C (p.Tyr401His) c.1066T>C (p.Tyr356His) c.1204T>C (p.Tyr402His) c.862T>C (p.Tyr288His) n.1034T>C n.546T>C n.428T>C c.1006T>C (p.Tyr336His) c.-4294965966T>C c.880T>C (p.Tyr294His) c.808T>C (p.Tyr270His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962162T>G | CA369585469 | TBXAS1 | c.1063T>G (p.Tyr355Asp) c.*852T>G (n.*852T>G) c.1201T>G (p.Tyr401Asp) c.1066T>G (p.Tyr356Asp) c.1204T>G (p.Tyr402Asp) c.862T>G (p.Tyr288Asp) n.1034T>G n.546T>G n.428T>G c.1006T>G (p.Tyr336Asp) c.-4294965966T>G c.880T>G (p.Tyr294Asp) c.808T>G (p.Tyr270Asp) | |
7 | g.139962162T= | CA1747341131 | TBXAS1 | c.1063T= (p.Tyr355=) c.*852T= (n.*852T=) c.1201T= (p.Tyr401=) c.1066T= (p.Tyr356=) c.1204T= (p.Tyr402=) c.862T= (p.Tyr288=) n.1034T= n.546T= n.428T= c.1006T= (p.Tyr336=) c.-4294965966T= c.880T= (p.Tyr294=) c.808T= (p.Tyr270=) | |
7 | g.139962163A>C | CA369585470 | TBXAS1 | c.1064A>C (p.Tyr355Ser) c.*853A>C (n.*853A>C) c.1202A>C (p.Tyr401Ser) c.1067A>C (p.Tyr356Ser) c.1205A>C (p.Tyr402Ser) c.863A>C (p.Tyr288Ser) n.1035A>C n.547A>C n.429A>C c.1007A>C (p.Tyr336Ser) c.-4294965965A>C c.881A>C (p.Tyr294Ser) c.809A>C (p.Tyr270Ser) | |
7 | g.139962163A>G | CA369585471 | TBXAS1 | c.1064A>G (p.Tyr355Cys) c.*853A>G (n.*853A>G) c.1202A>G (p.Tyr401Cys) c.1067A>G (p.Tyr356Cys) c.1205A>G (p.Tyr402Cys) c.863A>G (p.Tyr288Cys) n.1035A>G n.547A>G n.429A>G c.1007A>G (p.Tyr336Cys) c.-4294965965A>G c.881A>G (p.Tyr294Cys) c.809A>G (p.Tyr270Cys) | COSMIC |
7 | g.139962163A>T | CA369585472 | TBXAS1 | c.1064A>T (p.Tyr355Phe) c.*853A>T (n.*853A>T) c.1202A>T (p.Tyr401Phe) c.1067A>T (p.Tyr356Phe) c.1205A>T (p.Tyr402Phe) c.863A>T (p.Tyr288Phe) n.1035A>T n.547A>T n.429A>T c.1007A>T (p.Tyr336Phe) c.-4294965965A>T c.881A>T (p.Tyr294Phe) c.809A>T (p.Tyr270Phe) | |
7 | g.139962164C>A | CA369585474 | TBXAS1 | c.1065C>A (p.Tyr355Ter) c.*854C>A (n.*854C>A) c.1203C>A (p.Tyr401Ter) c.1068C>A (p.Tyr356Ter) c.1206C>A (p.Tyr402Ter) c.864C>A (p.Tyr288Ter) n.1036C>A n.548C>A n.430C>A c.1008C>A (p.Tyr336Ter) c.-4294965964C>A c.882C>A (p.Tyr294Ter) c.810C>A (p.Tyr270Ter) | |
7 | g.139962164C>G | CA369585473 | TBXAS1 | c.1065C>G (p.Tyr355Ter) c.*854C>G (n.*854C>G) c.1203C>G (p.Tyr401Ter) c.1068C>G (p.Tyr356Ter) c.1206C>G (p.Tyr402Ter) c.864C>G (p.Tyr288Ter) n.1036C>G n.548C>G n.430C>G c.1008C>G (p.Tyr336Ter) c.-4294965964C>G c.882C>G (p.Tyr294Ter) c.810C>G (p.Tyr270Ter) | |
7 | g.139962164C>T | CA458115564 | TBXAS1 | c.1065C>T (p.Tyr355=) c.*854C>T (n.*854C>T) c.1203C>T (p.Tyr401=) c.1068C>T (p.Tyr356=) c.1206C>T (p.Tyr402=) c.864C>T (p.Tyr288=) n.1036C>T n.548C>T n.430C>T c.1008C>T (p.Tyr336=) c.-4294965964C>T c.882C>T (p.Tyr294=) c.810C>T (p.Tyr270=) | |
7 | g.139962165C>A | CA369585475 | TBXAS1 | c.1066C>A (p.Leu356Ile) c.*855C>A (n.*855C>A) c.1204C>A (p.Leu402Ile) c.1069C>A (p.Leu357Ile) c.1207C>A (p.Leu403Ile) c.865C>A (p.Leu289Ile) n.1037C>A n.549C>A n.431C>A c.1009C>A (p.Leu337Ile) c.-4294965963C>A c.883C>A (p.Leu295Ile) c.811C>A (p.Leu271Ile) | gnomAD v4 |
7 | g.139962165C= | CA1747341132 | TBXAS1 | c.1066C= (p.Leu356=) c.*855C= (n.*855C=) c.1204C= (p.Leu402=) c.1069C= (p.Leu357=) c.1207C= (p.Leu403=) c.865C= (p.Leu289=) n.1037C= n.549C= n.431C= c.1009C= (p.Leu337=) c.-4294965963C= c.883C= (p.Leu295=) c.811C= (p.Leu271=) | |
7 | g.139962165C>G | CA4511878 | TBXAS1 | c.1066C>G (p.Leu356Val) c.*855C>G (n.*855C>G) c.1204C>G (p.Leu402Val) c.1069C>G (p.Leu357Val) c.1207C>G (p.Leu403Val) c.865C>G (p.Leu289Val) n.1037C>G n.549C>G n.431C>G c.1009C>G (p.Leu337Val) c.-4294965963C>G c.883C>G (p.Leu295Val) c.811C>G (p.Leu271Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962165C>T | CA4511879 | TBXAS1 | c.1066C>T (p.Leu356=) c.*855C>T (n.*855C>T) c.1204C>T (p.Leu402=) c.1069C>T (p.Leu357=) c.1207C>T (p.Leu403=) c.865C>T (p.Leu289=) n.1037C>T n.549C>T n.431C>T c.1009C>T (p.Leu337=) c.-4294965963C>T c.883C>T (p.Leu295=) c.811C>T (p.Leu271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962166T>A | CA369585476 | TBXAS1 | c.1067T>A (p.Leu356Gln) c.*856T>A (n.*856T>A) c.1205T>A (p.Leu402Gln) c.1070T>A (p.Leu357Gln) c.1208T>A (p.Leu403Gln) c.866T>A (p.Leu289Gln) n.1038T>A n.550T>A n.432T>A c.1010T>A (p.Leu337Gln) c.-4294965962T>A c.884T>A (p.Leu295Gln) c.812T>A (p.Leu271Gln) | |
7 | g.139962166T>C | CA369585477 | TBXAS1 | c.1067T>C (p.Leu356Pro) c.*856T>C (n.*856T>C) c.1205T>C (p.Leu402Pro) c.1070T>C (p.Leu357Pro) c.1208T>C (p.Leu403Pro) c.866T>C (p.Leu289Pro) n.1038T>C n.550T>C n.432T>C c.1010T>C (p.Leu337Pro) c.-4294965962T>C c.884T>C (p.Leu295Pro) c.812T>C (p.Leu271Pro) | |
7 | g.139962166T>G | CA369585478 | TBXAS1 | c.1067T>G (p.Leu356Arg) c.*856T>G (n.*856T>G) c.1205T>G (p.Leu402Arg) c.1070T>G (p.Leu357Arg) c.1208T>G (p.Leu403Arg) c.866T>G (p.Leu289Arg) n.1038T>G n.550T>G n.432T>G c.1010T>G (p.Leu337Arg) c.-4294965962T>G c.884T>G (p.Leu295Arg) c.812T>G (p.Leu271Arg) | |
7 | g.139962167A>C | CA458115567 | TBXAS1 | c.1068A>C (p.Leu356=) c.*857A>C (n.*857A>C) c.1206A>C (p.Leu402=) c.1071A>C (p.Leu357=) c.1209A>C (p.Leu403=) c.867A>C (p.Leu289=) n.1039A>C n.551A>C n.433A>C c.1011A>C (p.Leu337=) c.-4294965961A>C c.885A>C (p.Leu295=) c.813A>C (p.Leu271=) | |
7 | g.139962167A>G | CA458115566 | TBXAS1 | c.1068A>G (p.Leu356=) c.*857A>G (n.*857A>G) c.1206A>G (p.Leu402=) c.1071A>G (p.Leu357=) c.1209A>G (p.Leu403=) c.867A>G (p.Leu289=) n.1039A>G n.551A>G n.433A>G c.1011A>G (p.Leu337=) c.-4294965961A>G c.885A>G (p.Leu295=) c.813A>G (p.Leu271=) | |
7 | g.139962167A>T | CA458115565 | TBXAS1 | c.1068A>T (p.Leu356=) c.*857A>T (n.*857A>T) c.1206A>T (p.Leu402=) c.1071A>T (p.Leu357=) c.1209A>T (p.Leu403=) c.867A>T (p.Leu289=) n.1039A>T n.551A>T n.433A>T c.1011A>T (p.Leu337=) c.-4294965961A>T c.885A>T (p.Leu295=) c.813A>T (p.Leu271=) | |
7 | g.139962168C>A | CA369585479 | TBXAS1 | c.1069C>A (p.Leu357Met) c.*858C>A (n.*858C>A) c.1207C>A (p.Leu403Met) c.1072C>A (p.Leu358Met) c.1210C>A (p.Leu404Met) c.868C>A (p.Leu290Met) n.1040C>A n.552C>A n.434C>A c.1012C>A (p.Leu338Met) c.-4294965960C>A c.886C>A (p.Leu296Met) c.814C>A (p.Leu272Met) | |
7 | g.139962168C>G | CA369585480 | TBXAS1 | c.1069C>G (p.Leu357Val) c.*858C>G (n.*858C>G) c.1207C>G (p.Leu403Val) c.1072C>G (p.Leu358Val) c.1210C>G (p.Leu404Val) c.868C>G (p.Leu290Val) n.1040C>G n.552C>G n.434C>G c.1012C>G (p.Leu338Val) c.-4294965960C>G c.886C>G (p.Leu296Val) c.814C>G (p.Leu272Val) | gnomAD v4 |
7 | g.139962168C>T | CA458115568 | TBXAS1 | c.1069C>T (p.Leu357=) c.*858C>T (n.*858C>T) c.1207C>T (p.Leu403=) c.1072C>T (p.Leu358=) c.1210C>T (p.Leu404=) c.868C>T (p.Leu290=) n.1040C>T n.552C>T n.434C>T c.1012C>T (p.Leu338=) c.-4294965960C>T c.886C>T (p.Leu296=) c.814C>T (p.Leu272=) | |
7 | g.139962169T>A | CA369585481 | TBXAS1 | c.1070T>A (p.Leu357Gln) c.*859T>A (n.*859T>A) c.1208T>A (p.Leu403Gln) c.1073T>A (p.Leu358Gln) c.1211T>A (p.Leu404Gln) c.869T>A (p.Leu290Gln) n.1041T>A n.553T>A n.435T>A c.1013T>A (p.Leu338Gln) c.-4294965959T>A c.887T>A (p.Leu296Gln) c.815T>A (p.Leu272Gln) | |
7 | g.139962169T>C | CA369585482 | TBXAS1 | c.1070T>C (p.Leu357Pro) c.*859T>C (n.*859T>C) c.1208T>C (p.Leu403Pro) c.1073T>C (p.Leu358Pro) c.1211T>C (p.Leu404Pro) c.869T>C (p.Leu290Pro) n.1041T>C n.553T>C n.435T>C c.1013T>C (p.Leu338Pro) c.-4294965959T>C c.887T>C (p.Leu296Pro) c.815T>C (p.Leu272Pro) | |
7 | g.139962169T>G | CA369585483 | TBXAS1 | c.1070T>G (p.Leu357Arg) c.*859T>G (n.*859T>G) c.1208T>G (p.Leu403Arg) c.1073T>G (p.Leu358Arg) c.1211T>G (p.Leu404Arg) c.869T>G (p.Leu290Arg) n.1041T>G n.553T>G n.435T>G c.1013T>G (p.Leu338Arg) c.-4294965959T>G c.887T>G (p.Leu296Arg) c.815T>G (p.Leu272Arg) | gnomAD v4 |
7 | g.139962170G>A | CA458115569 | TBXAS1 | c.1071G>A (p.Leu357=) c.*860G>A (n.*860G>A) c.1209G>A (p.Leu403=) c.1074G>A (p.Leu358=) c.1212G>A (p.Leu404=) c.870G>A (p.Leu290=) n.1042G>A n.554G>A n.436G>A c.1014G>A (p.Leu338=) c.-4294965958G>A c.888G>A (p.Leu296=) c.816G>A (p.Leu272=) | |
7 | g.139962170G>C | CA458115570 | TBXAS1 | c.1071G>C (p.Leu357=) c.*860G>C (n.*860G>C) c.1209G>C (p.Leu403=) c.1074G>C (p.Leu358=) c.1212G>C (p.Leu404=) c.870G>C (p.Leu290=) n.1042G>C n.554G>C n.436G>C c.1014G>C (p.Leu338=) c.-4294965958G>C c.888G>C (p.Leu296=) c.816G>C (p.Leu272=) | gnomAD v4 |
7 | g.139962170G>T | CA458115571 | TBXAS1 | c.1071G>T (p.Leu357=) c.*860G>T (n.*860G>T) c.1209G>T (p.Leu403=) c.1074G>T (p.Leu358=) c.1212G>T (p.Leu404=) c.870G>T (p.Leu290=) n.1042G>T n.554G>T n.436G>T c.1014G>T (p.Leu338=) c.-4294965958G>T c.888G>T (p.Leu296=) c.816G>T (p.Leu272=) | |
7 | g.139962171G>A | CA369585484 | TBXAS1 | c.1072G>A (p.Ala358Thr) c.*861G>A (n.*861G>A) c.1210G>A (p.Ala404Thr) c.1075G>A (p.Ala359Thr) c.1213G>A (p.Ala405Thr) c.871G>A (p.Ala291Thr) n.1043G>A n.555G>A n.437G>A c.1015G>A (p.Ala339Thr) c.-4294965957G>A c.889G>A (p.Ala297Thr) c.817G>A (p.Ala273Thr) | |
7 | g.139962171G>C | CA369585485 | TBXAS1 | c.1072G>C (p.Ala358Pro) c.*861G>C (n.*861G>C) c.1210G>C (p.Ala404Pro) c.1075G>C (p.Ala359Pro) c.1213G>C (p.Ala405Pro) c.871G>C (p.Ala291Pro) n.1043G>C n.555G>C n.437G>C c.1015G>C (p.Ala339Pro) c.-4294965957G>C c.889G>C (p.Ala297Pro) c.817G>C (p.Ala273Pro) | |
7 | g.139962171G= | CA1747341133 | TBXAS1 | c.1072G= (p.Ala358=) c.*861G= (n.*861G=) c.1210G= (p.Ala404=) c.1075G= (p.Ala359=) c.1213G= (p.Ala405=) c.871G= (p.Ala291=) n.1043G= n.555G= n.437G= c.1015G= (p.Ala339=) c.-4294965957G= c.889G= (p.Ala297=) c.817G= (p.Ala273=) | |
7 | g.139962171G>T | CA369585486 | TBXAS1 | c.1072G>T (p.Ala358Ser) c.*861G>T (n.*861G>T) c.1210G>T (p.Ala404Ser) c.1075G>T (p.Ala359Ser) c.1213G>T (p.Ala405Ser) c.871G>T (p.Ala291Ser) n.1043G>T n.555G>T n.437G>T c.1015G>T (p.Ala339Ser) c.-4294965957G>T c.889G>T (p.Ala297Ser) c.817G>T (p.Ala273Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962172C>A | CA369585488 | TBXAS1 | c.1073C>A (p.Ala358Asp) c.*862C>A (n.*862C>A) c.1211C>A (p.Ala404Asp) c.1076C>A (p.Ala359Asp) c.1214C>A (p.Ala405Asp) c.872C>A (p.Ala291Asp) n.1044C>A n.556C>A n.438C>A c.1016C>A (p.Ala339Asp) c.-4294965956C>A c.890C>A (p.Ala297Asp) c.818C>A (p.Ala273Asp) | |
7 | g.139962172C>G | CA369585489 | TBXAS1 | c.1073C>G (p.Ala358Gly) c.*862C>G (n.*862C>G) c.1211C>G (p.Ala404Gly) c.1076C>G (p.Ala359Gly) c.1214C>G (p.Ala405Gly) c.872C>G (p.Ala291Gly) n.1044C>G n.556C>G n.438C>G c.1016C>G (p.Ala339Gly) c.-4294965956C>G c.890C>G (p.Ala297Gly) c.818C>G (p.Ala273Gly) | |
7 | g.139962172C>T | CA369585487 | TBXAS1 | c.1073C>T (p.Ala358Val) c.*862C>T (n.*862C>T) c.1211C>T (p.Ala404Val) c.1076C>T (p.Ala359Val) c.1214C>T (p.Ala405Val) c.872C>T (p.Ala291Val) n.1044C>T n.556C>T n.438C>T c.1016C>T (p.Ala339Val) c.-4294965956C>T c.890C>T (p.Ala297Val) c.818C>T (p.Ala273Val) | gnomAD v4 |