HRCA1,RCA1,VHL1,pVHL

Chromosome：3　Start:　10182692　End:　10193904　Strand:　1

依维莫司　 帕唑帕尼,培唑帕尼　 芦可替尼/鲁索利替尼/鲁索替尼　 舒尼替尼　 替西罗莫司/坦西莫司　 VEGF Inhibition　

R167W (c.499C>003eT) R167Q (c.500G>003eA) R161* (c.481C>003eT) R161Q (c.482G>003eA) N78S (c.233A>003eG) EXON 3 DELETION EXON 1 DELETION R113* (c.337C>003eT) S65W (c.194C>003eG) F76del (c.227_229delTCT) S65L (c.194C>003eT) Y98H (c.292T>003eC) P86S (c.256C>003eT) F136S (c.407T>003eC) L89P (c.266T>003eC) S80I (c.239G>003eT) F76del (c.226_228delTTC) C162W (c.486C>003eG) R200W (c.598C>003eT) Q195* (c.583C>003eT) P86L (c.257C>003eT) P25L (c.74C>003eT) EXON 2-3 DELETION Null (Complete deletion) E70K (c.208G>003eA) E94* (c.280G>003eT) L178P (c.533T>003eC) L118P (c.353T>003eC) EXON 1-3 DELETION C162Y (c.485G>003eA) EXON 2 DELETION L188V (c.562C>003eG) P154L (c.461C>003eT) W117C (c.351G>003eT) L158V (c.472C>003eG) Splicing alteration (c.464-1G>003eT) Q145* (c.433C>003eT) EXON 1-2 DELETION P81S (c.241C>003eT) V170D (c.509T>003eA) Q164* (c.490C>003eT) P86R (c.257C>003eG) S111N (c.332G>003eA) L135* (c.404T>003eA) V130L (c.388G>003eC) Y98C (c.293A>003eG) R82P (c.245G>003eC) MUTATION Splicing alteration (c.340+1G>003eA) F119L (c.357C>003eG) S80N (c.239G>003eA) L178R (c.533T>003eG) H115Q (c.345C>003eG) L184P (c.551T>003eC) F136C (c.407T>003eG) V166F (c.496G>003eT) N78H (c.232A>003eC) E70* (c.208G>003eT) S80R (c.238A>003eC) C162F (c.485G>003eT) L169P (c.506T>003eC) C162R (c.484T>003eC) V170G (c.509T>003eG) W88R (c.262T>003eA) Y175* (c.525C>003eG) LOSS-OF-FUNCTION G114R (c.340G>003eC) R161P (c.482G>003eC) R177* (c.529A>003eT) L85P (c.254T>003eC) L178Q (c.533T>003eA) W88* (c.263G>003eA) G93D (c.278G>003eA) L101R (c.302T>003eG) V130F (c.388G>003eT) Splicing alteration (c.463+1G>003eA) F76del (c.224_226delTCT) Null (Partial deletion) Splicing alteration (c.340+5G>003eC) R82L (c.245G>003eT) N90I (c.269A>003eT) I151S (c.452T>003eG) P81delRVV (c.243_251delGCGCGTCGT) I151T (c.452T>003eC) N131K (c.393C>003eA) G114C (c.340G>003eT) L135FS (c.404delT) Q164R (c.491A>003eG) L116V (c.346C>003eG) P154P (c.462A>003eC) L153P (c.458T>003eC) Y156* (c.468T>003eG) L184R (c.551T>003eG) G114S (c.340G>003eA) L128F (c.381_382GC>003eTT) N78I (c.233A>003eT) D126FS (c.375_376insC) V155G (c.464T>003eG) R167G (c.499C>003eG) P61P (c.183C>003eG) Y175* (c.525C>003eA) Null (Partial deletion of Exon 3) E173* (c.517G>003eT) Splicing alteration (c.463+1G>003eT) H125P (c.374A>003eC) Y175C (c.524A>003eG) Null (Partial deletion of Exon 1) Y98S (c.293A>003eC) Y98N (c.292T>003eA) N131T (c.392A>003eC) LOSS R176FS (c.528delG) Splicing alteration (c.341-2A>003eC) T152fs (c.455insA) L153C (c.457delC) N131P (c.390_391delTA) S111R (c.333C>003eG) L198Q (c.593T>003eA) A122I (c.364_365GC>003eAT) T105P (c.313A>003eC) S80R (c.240T>003eG) P59R (c.175delC) R176fs (c.526delA) L188Q (c.563T>003eA) V155E (c.464T>003eA) G123FS (c.367delG) Q132P (c.395A>003eC) V62C (c.180delG) N78T (c.233A>003eC) E52K (c.154G>003eA) P103FS (c.309_310delTG) R167L (c.500G>003eT) L188R (c.563T>003eG) R107P (c.320G>003eC) P154fs (c.462delA) W88S (c.263G>003eC) Y156D (c.466T>003eG) G144* (c.430G>003eT) G93C (c.277G>003eT) Null (Partial deletion of Exons 2 >0026 3) R107G (c.319C>003eG) L158fs (c.473insT) R69fs (c.204insG) E186K (c.556G>003eA) E160FS (c.478_479delGA) I151F (c.451A>003eT) R161R (c.481C>003eA) L163H (c.488T>003eA) REARRANGEMENT E52fs* (c.156G>003eT) T157fs (c.472insT) W117* (c.351G>003eA) N141FS (c.421delA) P103A (c.307C>003eG) Q164H (c.492G>003eC) Null (Partial deletion of 4.6 Kb) Null (Partial deletion of Exon 2) Null (c.1-?_463+?del) Null (c.341-?_642+?del) Null (c.464-?_642+?del) Q73FS (c.215delC) S111R (c.333C>003eA) Y112N (c.334T>003eA) G104A (c.311G>003eC) T124I (c.371C>003eT) G144R (c.430G>003eA) Splicing alteration (IVS2+3A>003eG) Y175N (c.523T>003eA) V155M (c.463G>003eA) S183fs (c.548delC) S80G (c.238A>003eG) N78D (c.232A>003eG) S65* (c.203C>003eA) D121H (c.361G>003eC) L128P (c.383T>003eC) M54I (c.162G>003eC) Null (Large deletion) Partial deletion of 3 Kb W88L (c.263G>003eT) G104fs (c.309delT) P86H (c.257C>003eA) L89H (c.266T>003eA) H191D (c.571C>003eG) G104V (c.311G>003eT) P138R (c.413C>003eG) Splicing alteration (c.463 1G>003eT) F119L (c.355T>003eC) D197Rfs* (c.588_588dupA) L198P (c.593T>003eC) E160V (c.479A>003eT) S183W (c.548C>003eG) L163F (c.487C>003eT) W117R (c.349T>003eA) A56FS (c.164_165insG) M54* (c.162insT) H115P (c.344A>003eC) L128R (c.383T>003eG) V166F (c.498C>003eG) L129Q (c.386insAGA) G114dup (c.342dupGGT) R113FS (c.337delC) E46* (c.136G>003eT) S111FS (c.331delA) N131* (c.255insC) F91* (c.272T>003eA) N150I (c.448delA) R79P (c.236G>003eC) E55* (c.163G>003eT) C77FS (c.228_229insC) L140fs (c.417_to_418delTC) T105fs (c.315insAC) V194FS (c.581_582delTG) S68W (c.203C>003eG) V170F (c.508G>003eT) L132fs (c.395delA) R60FS (c.179delG) K159fs (c.475delA) P71fs (c.211insT) H191FS (c.571delC) E55RfsTer11 (c.163delG) F76S (c.227T>003eC) Y156N (c.466T>003eA) S111C (c.330CA>003eTT) M54fs (c.161insT) L129fs (c.384delT) G93V (c.278G>003eT) N150fs (c.445_458del) I151M (c.453C>003eG) G144fs (c.432insG) 3'UTR alteration (c.639+10C>003eG) W117FS (c.349dupT) L101G (c.301C>003eG) *214C (c.642A>003eT) K159fs (c.477_478insCA) Q73FS (c.217delC) R108ins (c.324InsCGC) Splicing alteration (c.463+1G>003eC) V66del (c.197_220del) N150S (c.449A>003eG) Splicing alteration (c.464-2A>003eT) F76fs (c.223_224insT) E55E (c.165G>003eA) A56FS (c.164_165insA) A149fs (c.449del14-nt) W88FS (c.263_265delGGCinsTT) C162FS (c.483delA) L129P (c.386T>003eC) E160FS (c.479_480delAG) G114fs (c.341delCGTTTCCAACAATTTCTCGGTGT) *214W (c.642A>003eG) M54IFS (c.162_166delGGAGG) M1FS (c.1_17del17) E55FS (c.163_164delGA) Y98FS (c.291_310del20) M1? (c.1-1_20del21) M1? (c.3G>003eA) N7D (c.19A>003eG) E12D (c.36G>003eC) G39AfsTer26 (c.327delC) F76I (c.226T>003eA) R167fs (c.502insTTGTTCGT) Q145H (c.435_436delGC) V66* (c.196delG) G93fs (c.278delG) Q96P (c.287A>003eC) L118R (c.353T>003eG) L188R (c.563delT) E186del (c.558_560delAGA) K159E (c.475A>003eG) P192fs (c.575delC) N131fs (c.393CC>003eA) E134* (c.400G>003eT) R58FS (c.173_174insC) N141fs (c.422_440del19) I109FS (c.326delT) L85fs (c.253_254ins38) P59fs (c.176delC) P59S (c.175C>003eT) V66G (c.197T>003eG) V84L (c.250G>003eC) S168T (c.503G>003eC) L63P (c.188T>003eC) p.Phe119Glnfs*12 (c.354_355delCT) I109TfsX50 (c.326delT) R167fsX4 (c.499_504delinsT) V194fs (c.579_580delTG) Null (c.-678-?_340+?del) Null (c.-678-?_642+?del) N100fsX131 (c.298_299InsA) G144fs (c.431delG) R131S (c.392A>003eG) S168FS (c.503delG) P172fs (c.516delT) Splicing alteration (IVS1-1G>003eA) Splicing alteration (IVS2-1G>003eC) I147V (c.439A>003eG) R107H (c.320G>003eA) V155L (c.463G>003eC) Null (Deletion of Exon 2) D126Y (c.376G>003eT) P192S (c.574C>003eT) V87A (c.260T>003eC) P97L (c.290C>003eT) L184H (c.551T>003eA) G106fs (c.316insA) Splicing alteration (c.340+1G>003eT) Splicing alteration (c.463+2T>003eC) R176FS (c.527delG) V194fs (c.581_582delGT) Null (Partial deletion of Exons 1 >0026 2) P81L (c.242C>003eT) T152I (c.455C>003eT) V130I (c.388G>003eA)/ R200W (c.598C>003eT) L63fs (c.189_192delGCGC) Splicing alteration (c.464-2A>003eC) T157fs (c.472ins1-nt) I151fs (c.452insA) F158ins (c.472insTTT) V84M (c.250G>003eA) D197N (c.589G>003eA) F76L (c.228C>003eG) N78Y (c.232A>003eT) Y185* (c.555C>003eA) R167Q (c.499C>003eT) P95R (c.284C>003eG) P103L (c.308C>003eT) F119S (c.356T>003eC) P138L (c.413C>003eT) P61fs (c.181delCCGT) C77del (c.229_231delTGC) W88C (c.264G>003eC) D198fs (c.592_593delCT) G93FS (c.279delC) P97P (c.291C>003eG) G123fs (c.369_375delGACACAC) Splicing alteration (c.463+3A>003eT) K196E (c.586A>003eG) G114fs (c.326_339dupTCCACAGCTACCGA) R145FS (c.432_433insA) S111R (c.331A>003eC) F76fs (c.222_225dupCATC) S183L (c.548C>003eT) E94K (c.280G>003eA) R79C (c.235C>003eT) Y175C (c.524A>003eG) R177ins (c.531insCTGAGAGTAAAGCCTGAA) Partial deletion of 0.7 Kb Partial deletion of 1 Kb Partial deletion of 1.2 Kb Partial deletion of 1.5 Kb Partial deletion of 11 Kb Partial deletion of 12 Kb Partial deletion of 3.5 Kb Partial deletion of 7.5 Kb Partial deletion of 7 Kb Partial deletion of 8.2 Kb R82C (c.244C>003eT) S111G (c.331A>003eG) I151M (c.453C>003eG) E160* (c.478G>003eT) I180N (c.539T>003eA) L198R (c.593T>003eG) T100A(c.298A>003eG) W117* (c.350G>003eA) Q96fs (c.286insT) N174fs (c.520delA) Q132fs (c.395delA) L63fs (c.187delC) P61fs (c.181delC) G104fs (c.310delG) Q132fs (c.395_396delAA) V194fs (c.579_580delTG) M54_A56del (c.159_168del) P71_78del (c.213_232del) F76_N78del (c.226_232del) N141fs (c.421_422delAA) R161fs (c.481insC) P172fs (c.514delC) I147T (c.440T>003eC) G104G (c.312C>003eG) F91L (c.273C>003eG) L128fs (c.382delC) L63P (c.188T>003eC) E55fs (c.162delG) R60fs (c.176_177delCG) P61_S65del (c.183_195del) E70fs (c.209_210delAG) L85fs (c.253delC) P86fs (c.255_256delGC) N90fs (c.269delA) E94_P97del (c.281_291del) K114fs (c.339_340delAG) L116fs (c.347delT) L118fs (c.349_350insG) T124fs (c.370_371insTGCAGGA) N131fs (c.389delT) S139fs (c.415insC) L140fs (c.420delC) N141_D142del (c.422_428del) G144fs (c.429_430insGGAC) G144fs (c.430_433delGGAC) Q145H (c.435G>003eT) I147fs (c.439insT) T157fs (c.469delA) L158_K159del (c.472_477del) V166fs (c.498delC) S168_L169del (c.504_509del) K171fs (c.512_516delAGCCT) H191fs (c.570_574delCCACC) R205fs (c.615delC) c.251−?_429 +? V130I (c.388G>003eA) L118P (c.353T>003eC) / R107G (c.319C>003eG) Null (c.1-?_340+?del) Q203TfsX53 (c.606dupA) F136fs (c.407delC) Splicing alteration (IVS1 1G>003eT) P54S (c.460C>003eT) t(1;3)(q32;q13.3) P40R (c.119C>003eG) c.−213− ?_463 ?del V87fs (c.259_260insA) c.89c297 Splicing alteration (c.340+1G>003eA) c.341-59_341-14del V166A (c.497T>003eC) 235 (CAG-TAG) Splicing alteration (c.340-1G>003eA) A50A (c.150C>003eG); Splicing alteration (c.463-1G>003eT) Q132Hfs*45 (c.343_395dup) Q73Pfs*59 (c.217dupC) V74Sfs*53 (c.219_232delGGTCATCTTCTGCA) D121Mfs*38 (c.361delG) V141fs (c.422_440del19) Y156_T157del (c.465_470del6) Splicing alteration (c.554-1G>003eT) L178P (c.532C>003eT) N131K (c.393C>003eG) Splicing alteration (c.463 3A>003eC) S72fs (c.216delC) H110P (c.329A>003eC) Splicing alteration (IVS2-1G>003eT) exon1 151nt del; Null (Partial deletion of Exon 1) E52* (c.154G>003eT) L158E (c.473T>003eA) R176fs (c.526_528delA) W117C (c.351G>003eX) T104fs (c.313_315delC) EXON 1-2 DELETION; BRK1 DELETION M54fs (c.160delA) P59fs (c.176insAGCAdelTCCTGCGCT) I151N (c.452T>003eA) V155fs (c.464_468delTGTAT) L163P (c.488T>003eC) I151T (c.453T>003eC) A149fs (c.446delG) Splicing alteration (c.IVS2-1G>003eT) R167fs (c.501insTTGTCCGT) I75del (c.221delTCA) *214C (c.641_642insC) N131S (c.392A>003eG) G114V (c.341G>003eT) Partial deletion of 4 Kb V194G (c.581T>003eG) R120T (c.359G>003eC) H208fs (c.623insTTTTGTTG) P86S (c.256C>003eT); Splicing alteration (c.340 5G>003eC) M54Gfs*77 (c.160_161delAT) L198Wfs*4 (c.592delC) K196fs (c.588insA) Y98S (c.293A>003eC) (Novel) Splicing alteration (c.341-2A>003eG) L85_E94del (c.254_283del30bp) c.516_517dupGTCAAGCCT; c.532_542delCTGGACATCGTinsATTA L129P (c.386T>003eG) V62Efs*71 (c.185_193delTGCTGCGCTinsAGCA) R69AFS*63 (c.204_205insG) S80Ifs*79 (c.239delG) S80fs (c.239_245delGTCCGCG) V87E (c.260T>003eA) D92fs (c.275delAinsCC) P97Afs*35 (c.287_288insA) H110PFS*49 (c.329delA) S111Tfs*48 (c.332delG) Splicing alteration (c.340 3_340 10delACGGGCCCinsCG) Splicing alteration (c.340 5G>003eC) H115FS (c.343delC) W117G (c.349T>003eG) W117S (c.350G>003eC) E134Dfs*72 (c.402_428delATTATTTGTGCCATCTCTCAATGTTGA) Q145fs (c.433_437delCAGCC) P146Gfs*14 (c.435_436insGG) E160fs (c.480delG) C162* (c.486C>003eA) E189_D190del (c.565_570delGAAGAC) Splicing alteration (c.642 70C>003eA) c.(?_－213)_(*3705_?)del (Exon1, 2, 3 deletion) R82G (c.244C>003eG) D126N (c.376G>003eA) Splicing alteration (IVSI 3insCGdelACGGGCCC) S65L (c.194C>003eT) L101R (c.302T>003eG) R108fs (c.323delGC) E70K (c.208G>003eA); Splicing alteration (c.340+5G>003eC) V114R (c.341T>003eC) H115Q (c.346C>003eA) S139F (c.416C>003eT) F190L (c.568T>003eC) L198fs (c.592delC) Del/FS M54fs (c.160_175del) P61fs Stop at 121(c.180_208del) Asn67fs (c.197_213del) V84fs (c.249_255del) L89R(c.266T>003eG) G104fs*158 (c.311delC) R120fs*158 (c.359delG) D121_A122del (c.361_366del) D126G (c.377A>003eG) G127fs (c.381delG) T133fs*157 (c.397_400delACTG) L135fs (c.405delA) F137fs (c.408insT) L140fs*158 (c.419delT) G144fs*158 (c.431delG) A149fs*158 (c.446delC) T157fs*158 (c.469delA) L163fs*169 (c.488delT) c.77_32del c.61_51dup11 W8* (c.24G>003eA) A149S (c.445G>003eT) P59fs (c.173_174insC) L158P (c.473T>003eC) H115Q (c.345C>003eA) A149T (c.445G>003eA) T157I (c.470C>003eT) Q73* (c.217C>003eT) P86A (c.256C>003eG) Y112* (c.336C>003eA) V166D (c.497T>003eA) E186* (c.556G>003eT) S183* (c.548C>003eA) A56fs (c.167insA) I180V (c.538A>003eG) Y185* (c.555C>003eG) S65* (c.194C>003eA) D121G (c.362A>003eG) V84L (c.250G>003eT) S72P (c.214delT) G185S (c.340+5G>003eC) L118T (c.352insA) D143fs (c.430delG) Y175D (c.523T>003eG) V181G (c.540_543delCGTC) Q96* (c.286C>003eT) L188P (c.563T>003eC) G93S (c.277G>003eA) Y112H (c.334T>003eC) R64P (c.191G>003eC) E189L (c.565delG) S68P (c.202T>003eC) S65P (c.193T>003eC) S72P (c.214T>003eC) W88* (c.264G>003eA) V170A (c.509T>003eC) K196* (c.586A>003eT) R120G (c.358A>003eG) R161G (c.481C>003eG) G93R (c.277G>003eC) H115Y (c.343C>003eT) P138T (c.412C>003eA) P86S (c.257C>003eT) Y156C (c.467A>003eG) Splicing alteration (c.464-1G>003eA) Splicing alteration (c.464-2A>003eG) Q164L (c.491A>003eT) P40fs (c.118ins) T157fs (c.472ins) D92fs (c.275del18-nt) S65FS (c.194delC) Q73fs (c.214insGCCC) F76fs (c.227insC) H125fs (c.374insA) L158fs (c.474_476delGAAinsC) Y175FS (c.525delC) L188fs (c.562delC) Q195fs (c.584_585delAG) D197FS (c.589delG) T202fs (c.606insA) E55fs (c.165_166dupG) P61FS (c.182_185delCCGT) 3'UTR alteration (c.642+70C>003eA) Y98FS (c.291delC) R82_V84del (c.244_252del) A56_P59del (c.166_178del) G144Q (c.431G>003eA) Splicing alteration (c.463+8C>003eT) W88fs (c.261dupA) 3p26.3-25.3 11Mb del c.128−?_250+? Splicing alteration (c.463+2T>003eC) V66Gfs*89 (c.197_209del) R79_S80del (c.236_241delGCAGTC) D92G (c.275A>003eG) G114Vfs*45 (c.339delA) T133Lfs*26 (c.397delA) Splicing alteration (c.464-2G>003eA) R167P (c.500G>003eC) *214G (c.640T>003eG)