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CHEK2 CH ×
In silico saturation mutagenesis
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Select a mutation to see further information
Mutation AA change Consequence type BoostDM score IntOGen frequency
22:28696959:T R389H missense 0.99 14
22:28695809:A T430I missense 0.98 6
22:28725090:G I203T missense 0.99 5
22:28696960:A R389C missense 0.96 5
22:28710035:T E316K missense 0.99 4
22:28734439:A R95* nonsense 0.96 4
22:28725253:T R188Q missense 0.99 3
22:28695815:T C428Y missense 0.99 3
22:28699930:T G349R missense 0.99 2
22:28699843:T V378M missense 0.99 2
22:28695127:T A502T missense 0.99 2
22:28695810:C T430A missense 0.99 2
22:28699866:C Y370C missense 0.99 2
22:28695809:T T430N missense 0.98 2
22:28695794:A A435V missense 0.98 2
22:28699876:G C367R missense 0.98 2
22:28725254:A R188W missense 0.98 2
22:28712015:T G272D missense 0.98 2
22:28696955:T D390E missense 0.96 2
22:28725278:A R180* nonsense 0.89 2
22:28725267:C S183R missense 0.39 2
22:28725027:T R224H missense 0.20 2
22:28734430:T A98T missense 0.09 2
22:28725277:T R180Q missense 0.06 2
22:28696957:T D390N missense 0.99 1
22:28725003:G I232T missense 0.99 1
22:28725259:A H186L missense 0.99 1
22:28725259:C H186R missense 0.99 1
22:28711961:T A290D missense 0.99 1
22:28696901:T K408K splicing 0.99 1
22:28696950:G K392T missense 0.99 1
22:28696956:C D390G missense 0.99 1
22:28699926:T G350E missense 0.99 1
22:28699930:G G349R missense 0.99 1
22:28695812:T G429E missense 0.99 1
22:28695815:G C428S missense 0.99 1
22:28699857:C Q373R missense 0.99 1
22:28725084:C D205G missense 0.99 1
22:28725087:C E204G missense 0.99 1
22:28703511:G L344S missense 0.99 1
22:28695821:T T426N missense 0.98 1
22:28695792:C P436A missense 0.98 1
22:28696901:A K408N missense 0.98 1
22:28696901:G K408N missense 0.98 1
22:28719413:T M265K missense 0.98 1
22:28719401:G L269P missense 0.98 1
22:28695816:G C428R missense 0.98 1
22:28695816:T C428S missense 0.98 1
22:28699879:C T366A missense 0.98 1
22:28696963:A H388Y missense 0.98 1
22:28725254:C R188G missense 0.98 1
22:28695834:G S422P missense 0.98 1
22:28725036:T G221E missense 0.98 1
22:28712016:A G272C missense 0.98 1
22:28725066:A T211I missense 0.98 1
22:28725037:T G221R missense 0.98 1
22:28712003:C E276G missense 0.98 1
22:28711956:C K292E missense 0.98 1
22:28696935:G L397S missense 0.98 1
22:28696927:G S400P missense 0.98 1
22:28696905:T I407K missense 0.98 1
22:28696905:G I407T missense 0.98 1
22:28694042:A P527L missense 0.98 1
22:28725004:C I232V missense 0.98 1
22:28725093:G Y202S missense 0.97 1
22:28699858:A Q373* nonsense 0.97 1
22:28711962:T A290T missense 0.97 1
22:28695826:T M424I missense 0.97 1
22:28695854:T S415Y missense 0.96 1
22:28699890:T L362Q missense 0.95 1
22:28725046:A V218L missense 0.95 1
22:28734444:T W93* nonsense 0.93 1
22:28734424:A Q100* nonsense 0.92 1
22:28703505:T L346* nonsense 0.91 1
22:28725346:T W157* nonsense 0.90 1
22:28699897:A K360* nonsense 0.90 1
22:28699893:T R361H missense 0.87 1
22:28695147:T W495* nonsense 0.86 1
22:28699921:C L352V missense 0.86 1
22:28699862:T F371L missense 0.86 1
22:28694058:A E522* nonsense 0.86 1
22:28719410:C S266* nonsense 0.85 1
22:28719412:G M265I missense 0.85 1
22:28725261:G K185N missense 0.84 1
22:28725030:T R223H missense 0.84 1
22:28734708:T S5* nonsense 0.81 1
22:28725089:C I203M missense 0.81 1
22:28734637:A Q29* nonsense 0.77 1
22:28725086:G E204D missense 0.76 1
22:28687926:A R578C missense 0.76 1
22:28696985:C Y380* nonsense 0.75 1
22:28719442:T Y255* nonsense 0.73 1
22:28725348:C Y156* nonsense 0.73 1
22:28696924:A Q401* nonsense 0.71 1
22:28734414:G F103S missense 0.52 1
22:28734415:G F103L missense 0.52 1
22:28725355:A D154V missense 0.51 1
22:28724982:C N239S missense 0.51 1
22:28725337:T R160K missense 0.46 1
22:28725341:T G159R missense 0.46 1
22:28725268:T S183N missense 0.46 1
22:28734447:A P92L missense 0.46 1
22:28703527:T D339N missense 0.44 1
22:28725072:C N209S missense 0.43 1
22:28725012:C N229S missense 0.42 1
22:28734418:T G102R missense 0.41 1
22:28734444:A W93L missense 0.41 1
22:28734442:G A94P missense 0.41 1
22:28734442:T A94T missense 0.41 1
22:28696972:A G385C missense 0.33 1
22:28734564:A S53F missense 0.30 1
22:28725060:C V213G missense 0.29 1
22:28711977:G T285P missense 0.28 1
22:28725021:G L226S missense 0.28 1
22:28687947:T E571K missense 0.27 1
22:28725007:T E231K missense 0.27 1
22:28725078:T S207N missense 0.27 1
22:28724980:C K240E missense 0.27 1
22:28725124:T E192K missense 0.26 1
22:28734438:T R95Q missense 0.26 1
22:28710013:G L323P missense 0.25 1
22:28696944:C E394G missense 0.25 1
22:28734405:G L106P missense 0.23 1
22:28725347:G W157R missense 0.22 1
22:28725346:A W157L missense 0.22 1
22:28725274:A T181I missense 0.22 1
22:28699853:G M374I missense 0.22 1
22:28725349:C Y156C missense 0.18 1
22:28725118:T G194S missense 0.18 1
22:28703536:A D336Y missense 0.16 1
22:28711986:T E282K missense 0.15 1
22:28719468:T L247M missense 0.12 1
22:28725365:C C151G missense 0.09 1
22:28725309:C D169E missense 0.09 1
22:28725063:G F212S missense 0.08 1
22:28703555:A I329I synonymous 0.07 1
22:28734407:T N105K missense 0.06 1
22:28725362:T V152M missense 0.06 1
22:28725075:T G208D missense 0.05 1
22:28734590:T S44R missense 0.03 1
22:28734422:A Q100H missense 0.03 1
22:28734421:A D101Y missense 0.03 1
22:28725328:A S163I missense 0.02 1
22:28687932:C T576A missense 0.02 1
22:28687973:A R562L missense 0.01 1
22:28734459:A P88L missense 0.01 1
22:28734714:A R3L missense 0.00 1
22:28710030:A I317I synonymous 0.00 1
22:28695811:A G429G synonymous 0.00 1
22:28695793:T A435A synonymous 0.00 1
22:28725044:A V218V synonymous 0.00 1
22:28689135:T Q557Q splicing 0.99 0
22:28696957:A D390Y missense 0.99 0
22:28696959:G R389P missense 0.99 0
22:28696957:G D390H missense 0.99 0
22:28696959:A R389L missense 0.99 0
22:28725090:T I203K missense 0.99 0
22:28725094:T Y202N missense 0.99 0
22:28725003:T I232N missense 0.99 0
22:28725094:G Y202H missense 0.99 0
22:28725003:C I232S missense 0.99 0
22:28725094:C Y202D missense 0.99 0
22:28725090:C I203R missense 0.99 0
22:28725259:G H186P missense 0.99 0
22:28711961:C A290G missense 0.99 0
22:28711961:A A290V missense 0.99 0
22:28695827:T M424K missense 0.99 0
22:28695827:G M424T missense 0.99 0
22:28695827:C M424R missense 0.99 0
22:28696951:A K392* nonsense 0.99 0
22:28725045:G V218A missense 0.99 0
22:28725045:T V218E missense 0.99 0
22:28725045:C V218G missense 0.99 0
22:28699927:A G350* nonsense 0.99 0
22:28695833:A S422F missense 0.99 0
22:28695833:C S422C missense 0.99 0
22:28695833:T S422Y missense 0.99 0
22:28696962:C H388R missense 0.99 0
22:28696962:G H388P missense 0.99 0
22:28696962:A H388L missense 0.99 0
22:28696956:G D390A missense 0.99 0
22:28696956:A D390V missense 0.99 0
22:28696951:G K392Q missense 0.99 0
22:28696951:C K392E missense 0.99 0
22:28696950:C K392R missense 0.99 0
22:28696950:A K392M missense 0.99 0
22:28710035:A E316* nonsense 0.99 0
22:28699926:A G350V missense 0.99 0
22:28699927:T G350R missense 0.99 0
22:28699929:A G349V missense 0.99 0
22:28699927:G G350R missense 0.99 0
22:28699843:A V378L missense 0.99 0
22:28699926:G G350A missense 0.99 0
22:28699929:T G349E missense 0.99 0
22:28699930:A G349W missense 0.99 0
22:28699843:G V378L missense 0.99 0
22:28699929:G G349A missense 0.99 0
22:28725253:G R188P missense 0.99 0
22:28725253:A R188L missense 0.99 0
22:28696903:A K408* nonsense 0.99 0
22:28695127:G A502P missense 0.99 0
22:28695127:A A502S missense 0.99 0
22:28695810:A T430S missense 0.99 0
22:28695822:G T426P missense 0.99 0
22:28695810:G T430P missense 0.99 0
22:28695822:C T426A missense 0.99 0
22:28695822:A T426S missense 0.99 0
22:28695813:A G429* nonsense 0.99 0
22:28696902:C K408R missense 0.99 0
22:28696903:G K408Q missense 0.99 0
22:28696903:C K408E missense 0.99 0
22:28696902:G K408T missense 0.99 0
22:28696902:A K408M missense 0.99 0
22:28695813:T G429R missense 0.99 0
22:28695795:A A435S missense 0.99 0
22:28695795:G A435P missense 0.99 0
22:28695795:T A435T missense 0.99 0
22:28695813:G G429R missense 0.99 0
22:28695812:A G429V missense 0.99 0
22:28695812:G G429A missense 0.99 0
22:28695815:A C428F missense 0.99 0
22:28699857:G Q373P missense 0.99 0
22:28699857:A Q373L missense 0.99 0
22:28699866:A Y370F missense 0.99 0
22:28699866:G Y370S missense 0.99 0
22:28725263:A K185* nonsense 0.99 0
22:28703511:T L344* nonsense 0.99 0
22:28712004:A E276* nonsense 0.99 0
22:28725087:A E204V missense 0.99 0
22:28725084:G D205A missense 0.99 0
22:28725067:A T211S missense 0.99 0
22:28725067:C T211A missense 0.99 0
22:28725067:G T211P missense 0.99 0
22:28725084:A D205V missense 0.99 0
22:28725087:G E204A missense 0.99 0
22:28711956:A K292* nonsense 0.99 0
22:28703511:C L344W missense 0.99 0
22:28710035:G E316Q missense 0.99 0
22:28725088:A E204* nonsense 0.99 0
22:28725037:A G221* nonsense 0.98 0
22:28695792:A P436S missense 0.98 0
22:28695794:C A435G missense 0.98 0
22:28695809:C T430S missense 0.98 0
22:28695821:A T426I missense 0.98 0
22:28695792:T P436T missense 0.98 0
22:28695794:T A435E missense 0.98 0
22:28695821:C T426S missense 0.98 0
22:28699876:T C367S missense 0.98 0
22:28699876:C C367G missense 0.98 0
22:28719401:C L269R missense 0.98 0
22:28719413:C M265R missense 0.98 0
22:28719401:T L269H missense 0.98 0
22:28719413:G M265T missense 0.98 0
22:28695816:C C428G missense 0.98 0
22:28699879:A T366S missense 0.98 0
22:28699879:G T366P missense 0.98 0
22:28724978:C K240K splicing 0.98 0
22:28725263:G K185Q missense 0.98 0
22:28725263:C K185E missense 0.98 0
22:28694032:T Q530Q splicing 0.98 0
22:28696963:T H388N missense 0.98 0
22:28696963:C H388D missense 0.98 0
22:28699838:T Q379Q splicing 0.98 0
22:28696935:T L397* nonsense 0.98 0
22:28696935:C L397* nonsense 0.98 0
22:28695834:C S422A missense 0.98 0
22:28695834:T S422T missense 0.98 0
22:28725036:G G221A missense 0.98 0
22:28725036:A G221V missense 0.98 0
22:28712015:G G272A missense 0.98 0
22:28712004:G E276Q missense 0.98 0
22:28712004:T E276K missense 0.98 0
22:28712016:T G272S missense 0.98 0
22:28712015:A G272V missense 0.98 0
22:28712016:G G272R missense 0.98 0
22:28696906:A I407L missense 0.98 0
22:28696906:G I407L missense 0.98 0
22:28696906:C I407V missense 0.98 0
22:28725088:T E204K missense 0.98 0
22:28725088:G E204Q missense 0.98 0
22:28725085:T D205N missense 0.98 0
22:28725085:G D205H missense 0.98 0
22:28725085:A D205Y missense 0.98 0
22:28725066:T T211N missense 0.98 0
22:28725066:C T211S missense 0.98 0
22:28725037:G G221R missense 0.98 0
22:28712003:G E276A missense 0.98 0
22:28712003:A E276V missense 0.98 0
22:28710033:A E316D missense 0.98 0
22:28710033:G E316D missense 0.98 0
22:28711955:G K292T missense 0.98 0
22:28711955:A K292M missense 0.98 0
22:28711955:C K292R missense 0.98 0
22:28711956:G K292Q missense 0.98 0
22:28696927:C S400A missense 0.98 0
22:28696905:C I407R missense 0.98 0
22:28696927:T S400T missense 0.98 0
22:28694042:C P527R missense 0.98 0
22:28694042:T P527Q missense 0.98 0
22:28725004:A I232F missense 0.98 0
22:28725004:G I232L missense 0.98 0
22:28725093:A Y202F missense 0.97 0
22:28725093:C Y202C missense 0.97 0
22:28710034:C E316G missense 0.97 0
22:28710034:G E316A missense 0.97 0
22:28710034:A E316V missense 0.97 0
22:28699891:T L362M missense 0.97 0
22:28699891:C L362V missense 0.97 0
22:28703512:C L344V missense 0.97 0
22:28703512:T L344M missense 0.97 0
22:28695242:A C463C splicing 0.97 0
22:28711962:A A290S missense 0.97 0
22:28725031:T R223S missense 0.97 0
22:28725031:C R223G missense 0.97 0
22:28725031:A R223C missense 0.97 0
22:28711962:G A290P missense 0.97 0
22:28699865:T Y370* nonsense 0.97 0
22:28699865:C Y370* nonsense 0.97 0
22:28695826:A M424I missense 0.97 0
22:28695826:G M424I missense 0.97 0
22:28699858:T Q373K missense 0.97 0
22:28699858:C Q373E missense 0.97 0
22:28695828:G M424L missense 0.96 0
22:28695828:C M424V missense 0.96 0
22:28695828:A M424L missense 0.96 0
22:28699878:A T366I missense 0.96 0
22:28699878:T T366N missense 0.96 0
22:28699878:C T366S missense 0.96 0
22:28695791:C P436R missense 0.96 0
22:28695854:A S415F missense 0.96 0
22:28695791:A P436L missense 0.96 0
22:28695791:T P436H missense 0.96 0
22:28695854:C S415C missense 0.96 0
22:28725092:T Y202* nonsense 0.96 0
22:28725092:C Y202* nonsense 0.96 0
22:28696960:C R389G missense 0.96 0
22:28696960:T R389S missense 0.96 0
22:28696926:T S400Y missense 0.96 0
22:28696926:C S400C missense 0.96 0
22:28696926:A S400F missense 0.96 0
22:28695855:C S415A missense 0.96 0
22:28695855:T S415T missense 0.96 0
22:28695855:G S415P missense 0.96 0
22:28696955:C D390E missense 0.96 0
22:28725260:A H186Y missense 0.96 0
22:28725260:C H186D missense 0.96 0
22:28725260:T H186N missense 0.96 0
22:28689203:A K535* nonsense 0.96 0
22:28689197:A K537* nonsense 0.96 0
22:28699920:C L352R missense 0.95 0
22:28699920:T L352Q missense 0.95 0
22:28699890:G L362P missense 0.95 0
22:28699890:C L362R missense 0.95 0
22:28699867:T Y370N missense 0.95 0
22:28699867:G Y370H missense 0.95 0
22:28699842:C V378G missense 0.95 0
22:28699842:G V378A missense 0.95 0
22:28699842:T V378E missense 0.95 0
22:28699867:C Y370D missense 0.95 0
22:28699864:T F371I missense 0.95 0
22:28699864:G F371L missense 0.95 0
22:28699864:C F371V missense 0.95 0
22:28699863:T F371Y missense 0.95 0
22:28699863:G F371S missense 0.95 0
22:28699863:C F371C missense 0.95 0
22:28699920:G L352P missense 0.95 0
22:28725046:G V218L missense 0.95 0
22:28725046:T V218I missense 0.95 0
22:28699875:G C367S missense 0.95 0
22:28699875:A C367F missense 0.95 0
22:28699875:T C367Y missense 0.95 0
22:28689212:A E532* nonsense 0.95 0
22:28694043:A P527S missense 0.95 0
22:28694043:C P527A missense 0.95 0
22:28694043:T P527T missense 0.95 0
22:28725083:T D205E missense 0.95 0
22:28725083:C D205E missense 0.95 0
22:28712002:G E276D missense 0.94 0
22:28712002:A E276D missense 0.94 0
22:28725262:G K185T missense 0.94 0
22:28725262:C K185R missense 0.94 0
22:28725262:A K185I missense 0.94 0
22:28734514:A E70* nonsense 0.93 0
22:28734403:A E107* nonsense 0.93 0
22:28734496:A E76* nonsense 0.93 0
22:28734418:A G102* nonsense 0.93 0
22:28734481:A E81* nonsense 0.93 0
22:28734443:T W93* nonsense 0.93 0
22:28734435:C L96* nonsense 0.93 0
22:28734435:T L96* nonsense 0.93 0
22:28719431:C L259* nonsense 0.93 0
22:28719431:T L259* nonsense 0.93 0
22:28699874:T C367* nonsense 0.93 0
22:28725002:C I232M missense 0.93 0
22:28695217:A E472* nonsense 0.93 0
22:28703509:A E345* nonsense 0.92 0
22:28734616:A Q36* nonsense 0.92 0
22:28695198:T S478* nonsense 0.92 0
22:28695198:C S478* nonsense 0.92 0
22:28725266:A K184* nonsense 0.92 0
22:28695814:T C428* nonsense 0.92 0
22:28696949:A K392N missense 0.92 0
22:28696949:G K392N missense 0.92 0
22:28712007:A G275* nonsense 0.92 0
22:28719399:A G270* nonsense 0.92 0
22:28694034:A Q530* nonsense 0.91 0
22:28711998:A K278* nonsense 0.91 0
22:28711944:A K296* nonsense 0.91 0
22:28711968:A K288* nonsense 0.91 0
22:28710020:A K321* nonsense 0.91 0
22:28710017:A K322* nonsense 0.91 0
22:28699856:G Q373H missense 0.90 0
22:28699856:A Q373H missense 0.90 0
22:28703561:T C327* nonsense 0.90 0
22:28699848:T L376* nonsense 0.90 0
22:28734622:A Q34* nonsense 0.90 0
22:28689200:A R536* nonsense 0.90 0
22:28725124:A E192* nonsense 0.90 0
22:28695825:A R425* nonsense 0.90 0
22:28696945:A E394* nonsense 0.89 0
22:28696918:A E403* nonsense 0.89 0
22:28695799:T Y433* nonsense 0.89 0
22:28695799:C Y433* nonsense 0.89 0
22:28719449:C S253* nonsense 0.89 0
22:28719449:T S253* nonsense 0.89 0
22:28734534:T L63* nonsense 0.88 0
22:28734534:C L63* nonsense 0.88 0
22:28725296:A K174* nonsense 0.88 0
22:28694049:A R525* nonsense 0.88 0
22:28687971:A K563* nonsense 0.88 0
22:28687947:A E571* nonsense 0.88 0
22:28687953:A E569* nonsense 0.88 0
22:28724980:A K240* nonsense 0.88 0
22:28699912:A K355* nonsense 0.88 0
22:28734643:A Q27* nonsense 0.88 0
22:28725070:A G210* nonsense 0.88 0
22:28725007:A E231* nonsense 0.88 0
22:28689137:A Q557* nonsense 0.88 0
22:28699893:A R361L missense 0.87 0
22:28699893:G R361P missense 0.87 0
22:28725091:C I203V missense 0.87 0
22:28725091:G I203L missense 0.87 0
22:28725091:A I203L missense 0.87 0
22:28710022:T L320* nonsense 0.87 0
22:28734694:A Q10* nonsense 0.87 0
22:28734691:A Q11* nonsense 0.87 0
22:28734490:A Q78* nonsense 0.87 0
22:28694100:A K508* nonsense 0.87 0
22:28694103:A K507* nonsense 0.87 0
22:28734532:A E64* nonsense 0.87 0
22:28703510:A L344F missense 0.87 0
22:28703510:G L344F missense 0.87 0
22:28734487:A E79* nonsense 0.86 0
22:28695146:T W495* nonsense 0.86 0
22:28695175:A G486* nonsense 0.86 0
22:28699874:C C367W missense 0.86 0
22:28699921:T L352M missense 0.86 0
22:28699862:C F371L missense 0.86 0
22:28725021:T L226* nonsense 0.86 0
22:28695814:C C428W missense 0.85 0
22:28711954:A K292N missense 0.85 0
22:28711954:G K292N missense 0.85 0
22:28696910:T C405* nonsense 0.85 0
22:28719410:T S266* nonsense 0.85 0
22:28719412:A M265I missense 0.85 0
22:28719412:T M265I missense 0.85 0
22:28734517:A Q69* nonsense 0.85 0
22:28734571:A Q51* nonsense 0.85 0
22:28719402:C L269V missense 0.85 0
22:28719402:T L269I missense 0.85 0
22:28719402:A L269F missense 0.85 0
22:28696934:A L397F missense 0.85 0
22:28696934:G L397F missense 0.85 0
22:28696904:C I407M missense 0.85 0
22:28695133:A E500* nonsense 0.84 0
22:28725245:G R191R splicing 0.84 0
22:28711972:T C286* nonsense 0.84 0
22:28694051:T L524* nonsense 0.84 0
22:28694096:T L509* nonsense 0.84 0
22:28694051:C L524* nonsense 0.84 0
22:28694093:T L510* nonsense 0.84 0
22:28696978:A E383* nonsense 0.84 0
22:28696936:T L397I missense 0.84 0
22:28696936:C L397V missense 0.84 0
22:28725323:A E165* nonsense 0.84 0
22:28710029:A E318* nonsense 0.84 0
22:28725261:A K185N missense 0.84 0
22:28725284:A K178* nonsense 0.84 0
22:28725030:A R223L missense 0.84 0
22:28725030:G R223P missense 0.84 0
22:28711986:A E282* nonsense 0.84 0
22:28725258:C H186Q missense 0.84 0
22:28725258:T H186Q missense 0.84 0
22:28711922:T S303* nonsense 0.84 0
22:28711922:C S303* nonsense 0.84 0
22:28711917:A R305* nonsense 0.83 0
22:28695193:A K480* nonsense 0.83 0
22:28725101:C Y199* nonsense 0.83 0
22:28725101:T Y199* nonsense 0.83 0
22:28699894:C R361G missense 0.83 0
22:28699894:T R361S missense 0.83 0
22:28699894:A R361C missense 0.83 0
22:28703554:A K330* nonsense 0.83 0
22:28703522:C Y340* nonsense 0.83 0
22:28703522:T Y340* nonsense 0.83 0
22:28725040:A K220* nonsense 0.83 0
22:28734712:A E4* nonsense 0.82 0
22:28703548:A K332* nonsense 0.82 0
22:28696961:T H388Q missense 0.82 0
22:28696961:C H388Q missense 0.82 0
22:28711914:A E306* nonsense 0.82 0
22:28699859:C Y372* nonsense 0.82 0
22:28699859:T Y372* nonsense 0.82 0
22:28725112:A K196* nonsense 0.82 0
22:28703530:A E338* nonsense 0.82 0
22:28725293:A R175* nonsense 0.82 0
22:28719408:A K267* nonsense 0.82 0
22:28711971:A K287* nonsense 0.82 0
22:28694039:T W528* nonsense 0.82 0
22:28694038:T W528* nonsense 0.82 0
22:28725034:A K222* nonsense 0.82 0
22:28695739:T C453* nonsense 0.82 0
22:28695242:T C463* nonsense 0.82 0
22:28725345:T W157* nonsense 0.82 0
22:28695852:A K416* nonsense 0.82 0
22:28719438:A K257* nonsense 0.81 0
22:28699885:A E364* nonsense 0.81 0
22:28699933:A E348* nonsense 0.81 0
22:28699924:A E351* nonsense 0.81 0
22:28695230:T Y467* nonsense 0.81 0
22:28695230:C Y467* nonsense 0.81 0
22:28699888:A K363* nonsense 0.81 0
22:28703506:G L346L splicing 0.81 0
22:28695871:T I409I splicing 0.80 0
22:28695871:G I409I splicing 0.80 0
22:28719397:A G270G splicing 0.80 0
22:28719397:G G270G splicing 0.80 0
22:28719397:C G270G splicing 0.80 0
22:28734432:T W97* nonsense 0.80 0
22:28695167:C Y488* nonsense 0.80 0
22:28695167:T Y488* nonsense 0.80 0
22:28711938:A K298* nonsense 0.77 0
22:28725086:A E204D missense 0.76 0
22:28687926:C R578G missense 0.76 0
22:28687926:T R578S missense 0.76 0
22:28696985:T Y380* nonsense 0.75 0
22:28703507:C E345E splicing 0.75 0
22:28695712:T I462I splicing 0.75 0
22:28695712:A I462I splicing 0.75 0
22:28689191:A Q539* nonsense 0.74 0
22:28695205:A Q476* nonsense 0.74 0
22:28694116:T A502A splicing 0.74 0
22:28694116:G A502A splicing 0.74 0
22:28694116:C A502A splicing 0.74 0
22:28734475:A Q83* nonsense 0.74 0
22:28694115:A L503L splicing 0.74 0
22:28719414:A M265L missense 0.73 0
22:28719414:C M265V missense 0.73 0
22:28719414:G M265L missense 0.73 0
22:28719442:C Y255* nonsense 0.73 0
22:28695128:C K501K splicing 0.73 0
22:28725348:T Y156* nonsense 0.73 0
22:28687901:T L586* nonsense 0.72 0
22:28734666:C S19* nonsense 0.72 0
22:28734666:T S19* nonsense 0.72 0
22:28711980:A K284* nonsense 0.72 0
22:28725308:A E170* nonsense 0.72 0
22:28695172:A K487* nonsense 0.71 0
22:28695757:T Y447* nonsense 0.71 0
22:28695757:C Y447* nonsense 0.71 0
22:28694061:A E521* nonsense 0.71 0
22:28725332:A K162* nonsense 0.71 0
22:28725052:A E216* nonsense 0.70 0
22:28687959:A E567* nonsense 0.70 0
22:28710041:A E314* nonsense 0.70 0
22:28725279:C Y179* nonsense 0.70 0
22:28725279:T Y179* nonsense 0.70 0
22:28719418:T Y263* nonsense 0.70 0
22:28719418:C Y263* nonsense 0.70 0
22:28725363:T C151* nonsense 0.70 0
22:28694079:A K515* nonsense 0.70 0
22:28712008:T C274* nonsense 0.69 0
22:28719423:A E262* nonsense 0.69 0
22:28699840:A Q379* nonsense 0.69 0
22:28695154:A E493* nonsense 0.69 0
22:28725315:T C167* nonsense 0.69 0
22:28725324:T C164* nonsense 0.68 0
22:28695142:A E497* nonsense 0.68 0
22:28699937:T L346L splicing 0.67 0
22:28719429:A R260* nonsense 0.65 0
22:28725122:C E192E splicing 0.65 0
22:28699873:A K368* nonsense 0.64 0
22:28687929:A K577* nonsense 0.64 0
22:28687974:A R562* nonsense 0.64 0
22:28734664:A Q20* nonsense 0.64 0
22:28696985:A Y380Y splicing 0.63 0
22:28734624:C S33* nonsense 0.62 0
22:28734624:T S33* nonsense 0.62 0
22:28724986:A R238* nonsense 0.62 0
22:28689167:A E547* nonsense 0.62 0
22:28734431:T W97* nonsense 0.61 0
22:28689173:A E545* nonsense 0.61 0
22:28696953:T L391* nonsense 0.60 0
22:28696953:C L391* nonsense 0.60 0
22:28687925:G R578P missense 0.60 0
22:28687925:T R578H missense 0.60 0
22:28687925:A R578L missense 0.60 0
22:28724994:T S235* nonsense 0.58 0
22:28724994:C S235* nonsense 0.58 0
22:28689149:A Q553* nonsense 0.57 0
22:28719484:C V241V splicing 0.57 0
22:28719484:T V241V splicing 0.57 0
22:28719484:G V241V splicing 0.57 0
22:28695818:C L427* nonsense 0.57 0
22:28695818:T L427* nonsense 0.57 0
22:28695797:T L434* nonsense 0.57 0
22:28725270:C Y182* nonsense 0.56 0
22:28725270:T Y182* nonsense 0.56 0
22:28734700:A E8* nonsense 0.55 0
22:28689176:A E544* nonsense 0.55 0
22:28719453:A Q252* nonsense 0.54 0
22:28725364:A C151F missense 0.54 0
22:28725364:G C151S missense 0.54 0
22:28725364:T C151Y missense 0.54 0
22:28695737:T W454* nonsense 0.52 0
22:28695736:T W454* nonsense 0.52 0
22:28695789:A E437* nonsense 0.52 0
22:28695843:A G419* nonsense 0.52 0
22:28695840:A E420* nonsense 0.52 0
22:28695729:A G457* nonsense 0.52 0
22:28734439:C R95G missense 0.52 0
22:28734426:G L99P missense 0.52 0
22:28734501:G I74T missense 0.52 0
22:28734501:T I74N missense 0.52 0
22:28734510:C L71R missense 0.52 0
22:28734510:G L71P missense 0.52 0
22:28734510:T L71H missense 0.52 0
22:28734445:T W93R missense 0.52 0
22:28734445:G W93R missense 0.52 0
22:28734445:C W93G missense 0.52 0
22:28734525:C V66G missense 0.52 0
22:28734553:C S57A missense 0.52 0
22:28734435:G L96S missense 0.52 0
22:28734433:T W97R missense 0.52 0
22:28734553:G S57P missense 0.52 0
22:28734433:G W97R missense 0.52 0
22:28734433:C W97G missense 0.52 0
22:28734553:T S57T missense 0.52 0
22:28734426:T L99H missense 0.52 0
22:28734501:C I74S missense 0.52 0
22:28734426:C L99R missense 0.52 0
22:28734525:G V66A missense 0.52 0
22:28734415:T F103I missense 0.52 0
22:28734415:C F103V missense 0.52 0
22:28734414:T F103Y missense 0.52 0
22:28734525:T V66E missense 0.52 0
22:28734565:T S53T missense 0.52 0
22:28734565:G S53P missense 0.52 0
22:28734414:C F103C missense 0.52 0
22:28734565:C S53A missense 0.52 0
22:28725355:C D154G missense 0.51 0
22:28725367:G K150T missense 0.51 0
22:28725367:A K150I missense 0.51 0
22:28725355:G D154A missense 0.51 0
22:28725367:C K150R missense 0.51 0
22:28719455:C D251G missense 0.51 0
22:28719470:A D246V missense 0.51 0
22:28719470:C D246G missense 0.51 0
22:28719452:A Q252L missense 0.51 0
22:28719452:C Q252R missense 0.51 0
22:28719419:A Y263F missense 0.51 0
22:28719419:C Y263C missense 0.51 0
22:28719425:G D261A missense 0.51 0
22:28719455:A D251V missense 0.51 0
22:28719425:A D261V missense 0.51 0
22:28719470:G D246A missense 0.51 0
22:28719425:C D261G missense 0.51 0
22:28719458:C D250G missense 0.51 0
22:28719458:A D250V missense 0.51 0
22:28719455:G D251A missense 0.51 0
22:28719419:G Y263S missense 0.51 0
22:28719452:G Q252P missense 0.51 0
22:28719458:G D250A missense 0.51 0
22:28724982:G N239T missense 0.51 0
22:28724982:A N239I missense 0.51 0
22:28724983:C N239D missense 0.51 0
22:28724983:G N239H missense 0.51 0
22:28724983:A N239Y missense 0.51 0
22:28689214:G D531A missense 0.49 0
22:28689214:C D531G missense 0.49 0
22:28689214:A D531V missense 0.49 0
22:28689211:G E532A missense 0.49 0
22:28689211:C E532G missense 0.49 0
22:28689211:A E532V missense 0.49 0
22:28689206:G M534L missense 0.49 0
22:28689206:C M534V missense 0.49 0
22:28689206:A M534L missense 0.49 0
22:28689203:G K535Q missense 0.49 0
22:28689203:C K535E missense 0.49 0
22:28689197:G K537Q missense 0.49 0
22:28689197:C K537E missense 0.49 0
22:28719471:A D246Y missense 0.49 0
22:28719459:A D250Y missense 0.49 0
22:28719456:T D251N missense 0.49 0
22:28719456:G D251H missense 0.49 0
22:28719456:A D251Y missense 0.49 0
22:28719471:T D246N missense 0.49 0
22:28719426:T D261N missense 0.49 0
22:28719426:G D261H missense 0.49 0
22:28719426:A D261Y missense 0.49 0
22:28719471:G D246H missense 0.49 0
22:28719459:T D250N missense 0.49 0
22:28719459:G D250H missense 0.49 0
22:28734555:A S56I missense 0.49 0
22:28734555:T S56N missense 0.49 0
22:28734555:G S56T missense 0.49 0
22:28711909:A A307A splicing 0.49 0
22:28711909:C A307A splicing 0.49 0
22:28711909:G A307A splicing 0.49 0
22:28734616:C Q36E missense 0.48 0
22:28734616:T Q36K missense 0.48 0
22:28734559:C S55A missense 0.48 0
22:28734538:T S62T missense 0.48 0
22:28734538:G S62P missense 0.48 0
22:28734538:C S62A missense 0.48 0
22:28734559:G S55P missense 0.48 0
22:28734559:T S55T missense 0.48 0
22:28734568:C S52A missense 0.48 0
22:28734568:G S52P missense 0.48 0
22:28734568:T S52T missense 0.48 0
22:28689215:T D531N missense 0.47 0
22:28689204:G M534I missense 0.47 0
22:28689212:G E532Q missense 0.47 0
22:28689215:G D531H missense 0.47 0
22:28689204:T M534I missense 0.47 0
22:28687968:A R564W missense 0.47 0
22:28687968:C R564G missense 0.47 0
22:28689204:A M534I missense 0.47 0
22:28689215:A D531Y missense 0.47 0
22:28689212:T E532K missense 0.47 0
22:28734597:A S42F missense 0.47 0
22:28734597:C S42C missense 0.47 0
22:28734597:T S42Y missense 0.47 0
22:28724995:G S235P missense 0.47 0
22:28724995:T S235T missense 0.47 0
22:28724995:C S235A missense 0.47 0
22:28734693:G Q10P missense 0.47 0
22:28734693:C Q10R missense 0.47 0
22:28734693:A Q10L missense 0.47 0
22:28724991:C L236R missense 0.47 0
22:28724991:T L236Q missense 0.47 0
22:28724991:G L236P missense 0.47 0
22:28725337:A R160M missense 0.46 0
22:28725268:A S183I missense 0.46 0
22:28725268:G S183T missense 0.46 0
22:28725341:G G159R missense 0.46 0
22:28725325:A C164F missense 0.46 0
22:28725325:G C164S missense 0.46 0
22:28725341:A G159W missense 0.46 0
22:28725340:T G159E missense 0.46 0
22:28725340:G G159A missense 0.46 0
22:28725340:A G159V missense 0.46 0
22:28725337:G R160T missense 0.46 0
22:28725325:T C164Y missense 0.46 0
22:28689135:G Q557H missense 0.46 0
22:28689135:A Q557H missense 0.46 0
22:28711991:C A280G missense 0.46 0
22:28711991:A A280V missense 0.46 0
22:28711991:T A280D missense 0.46 0
22:28711976:A T285I missense 0.46 0
22:28711976:C T285R missense 0.46 0
22:28711976:T T285K missense 0.46 0
22:28734447:T P92H missense 0.46 0
22:28734447:C P92R missense 0.46 0
22:28710008:T H325N missense 0.45 0
22:28710037:T T315K missense 0.45 0
22:28710037:C T315R missense 0.45 0
22:28710037:A T315I missense 0.45 0
22:28710008:C H325D missense 0.45 0
22:28710008:A H325Y missense 0.45 0
22:28710057:A D308D splicing 0.44 0
22:28734601:T S41T missense 0.44 0
22:28734601:C S41A missense 0.44 0
22:28734601:G S41P missense 0.44 0
22:28703527:A D339Y missense 0.44 0
22:28703527:G D339H missense 0.44 0
22:28703562:G C327S missense 0.44 0
22:28703509:G E345Q missense 0.44 0
22:28703509:T E345K missense 0.44 0
22:28703562:T C327Y missense 0.44 0
22:28703562:A C327F missense 0.44 0
22:28725334:A D161V missense 0.44 0
22:28725271:G Y182S missense 0.44 0
22:28725269:A S183C missense 0.44 0
22:28695198:A S478L missense 0.44 0
22:28725322:C E165G missense 0.44 0
22:28725322:A E165V missense 0.44 0
22:28725271:A Y182F missense 0.44 0
22:28725271:C Y182C missense 0.44 0
22:28725334:G D161A missense 0.44 0
22:28725334:C D161G missense 0.44 0
22:28725266:G K184Q missense 0.44 0
22:28725266:C K184E missense 0.44 0
22:28725265:G K184T missense 0.44 0
22:28725265:A K184M missense 0.44 0
22:28725265:C K184R missense 0.44 0
22:28725269:C S183G missense 0.44 0
22:28725269:G S183R missense 0.44 0
22:28725322:G E165A missense 0.44 0
22:28695731:T L456* nonsense 0.44 0
22:28695845:T L418* nonsense 0.44 0
22:28695731:C L456* nonsense 0.44 0
22:28734519:T T68N missense 0.43 0
22:28734519:A T68I missense 0.43 0
22:28734519:C T68S missense 0.43 0
22:28725057:C N214S missense 0.43 0
22:28725079:G S207R missense 0.43 0
22:28725079:C S207G missense 0.43 0
22:28725079:A S207C missense 0.43 0
22:28725073:G N209H missense 0.43 0
22:28725073:C N209D missense 0.43 0
22:28725073:A N209Y missense 0.43 0
22:28725072:G N209T missense 0.43 0
22:28725072:A N209I missense 0.43 0
22:28725057:G N214T missense 0.43 0
22:28725057:A N214I missense 0.43 0
22:28719399:G G270R missense 0.42 0
22:28719399:T G270R missense 0.42 0
22:28719398:A G270V missense 0.42 0
22:28719398:G G270A missense 0.42 0
22:28719398:T G270E missense 0.42 0
22:28695130:A K501* nonsense 0.42 0
22:28696929:T S399* nonsense 0.42 0
22:28696929:C S399* nonsense 0.42 0
22:28719474:C F245V missense 0.42 0
22:28719474:G F245L missense 0.42 0
22:28719474:T F245I missense 0.42 0
22:28695187:A Q482* nonsense 0.42 0
22:28695135:T S499* nonsense 0.42 0
22:28695135:C S499* nonsense 0.42 0
22:28725012:A N229I missense 0.42 0
22:28725015:G N228T missense 0.42 0
22:28725012:G N229T missense 0.42 0
22:28725013:A N229Y missense 0.42 0
22:28725013:C N229D missense 0.42 0
22:28725013:G N229H missense 0.42 0
22:28725015:A N228I missense 0.42 0
22:28725015:C N228S missense 0.42 0
22:28703519:C Y341* nonsense 0.42 0
22:28703519:T Y341* nonsense 0.42 0
22:28687912:T C582* nonsense 0.41 0
22:28734569:A Q51H missense 0.41 0
22:28734496:G E76Q missense 0.41 0
22:28734493:T D77N missense 0.41 0
22:28734493:G D77H missense 0.41 0
22:28734493:A D77Y missense 0.41 0
22:28734481:T E81K missense 0.41 0
22:28734481:G E81Q missense 0.41 0
22:28734418:G G102R missense 0.41 0
22:28734417:T G102E missense 0.41 0
22:28734417:G G102A missense 0.41 0
22:28734417:A G102V missense 0.41 0
22:28734403:T E107K missense 0.41 0
22:28734403:G E107Q missense 0.41 0
22:28734478:T D82N missense 0.41 0
22:28734514:G E70Q missense 0.41 0
22:28734514:T E70K missense 0.41 0
22:28734569:G Q51H missense 0.41 0
22:28734478:G D82H missense 0.41 0
22:28734478:A D82Y missense 0.41 0
22:28734444:G W93S missense 0.41 0
22:28734443:G W93C missense 0.41 0
22:28734443:A W93C missense 0.41 0
22:28734442:A A94S missense 0.41 0
22:28734496:T E76K missense 0.41 0
22:28734549:A G58V missense 0.41 0
22:28734549:G G58A missense 0.41 0
22:28734549:T G58E missense 0.41 0
22:28734550:A G58W missense 0.41 0
22:28734550:G G58R missense 0.41 0
22:28734550:T G58R missense 0.41 0
22:28696921:A E402* nonsense 0.41 0
22:28725318:T Y166* nonsense 0.41 0
22:28725318:C Y166* nonsense 0.41 0
22:28687907:T A584D missense 0.41 0
22:28687907:A A584V missense 0.41 0
22:28687907:C A584G missense 0.41 0
22:28699917:T F353Y missense 0.41 0
22:28699917:G F353S missense 0.41 0
22:28699917:C F353C missense 0.41 0
22:28725289:A T176I missense 0.40 0
22:28725289:T T176K missense 0.40 0
22:28725289:C T176R missense 0.40 0
22:28703508:G E345A missense 0.40 0
22:28703529:A E338V missense 0.40 0
22:28695741:G C453R missense 0.40 0
22:28695741:T C453S missense 0.40 0
22:28703526:G D339A missense 0.40 0
22:28703526:C D339G missense 0.40 0
22:28703544:C N333S missense 0.40 0
22:28703526:A D339V missense 0.40 0
22:28703551:A I331F missense 0.40 0
22:28703551:C I331V missense 0.40 0
22:28703553:A K330M missense 0.40 0
22:28703553:C K330R missense 0.40 0
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