Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
4:152326137:C | R505G | missense_variant | 1.00 | 3 |
4:152328232:T | R465H | missense_variant | 1.00 | 2 |
4:152328233:A | R465C | missense_variant | 1.00 | 2 |
4:152326137:A | R505C | missense_variant | 1.00 | 1 |
4:152337831:A | R278* | stop_gained | 1.00 | 1 |
4:152411587:A | Q73* | stop_gained | 1.00 | 1 |
4:152323033:A | R658* | stop_gained | 1.00 | 1 |
4:152329731:A | R393* | stop_gained | 1.00 | 1 |
4:152346986:A | R224* | stop_gained | 0.99 | 1 |
4:152326023:C | R543G | missense_variant | 0.99 | 1 |
4:152326215:C | R479G | missense_variant | 0.99 | 1 |
4:152328316:T | G437E | missense_variant | 0.99 | 1 |
4:152326214:T | R479Q | missense_variant | 0.98 | 1 |
4:152326073:T | W526* | stop_gained | 0.98 | 1 |
4:152329755:G | T385P | missense_variant | 0.87 | 1 |
4:152324312:A | T576M | missense_variant | 0.86 | 1 |
4:152324372:T | S556N | missense_variant | 0.68 | 1 |
4:152328208:T | R473K | missense_variant | 0.68 | 1 |
4:152328232:A | R465L | missense_variant | 1.00 | 0 |
4:152328232:G | R465P | missense_variant | 1.00 | 0 |
4:152328233:C | R465G | missense_variant | 1.00 | 0 |
4:152328233:T | R465S | missense_variant | 1.00 | 0 |
4:152326215:A | R479* | stop_gained | 1.00 | 0 |
4:152326023:A | R543* | stop_gained | 1.00 | 0 |
4:152328229:A | C466F | missense_variant | 1.00 | 0 |
4:152328229:T | C466Y | missense_variant | 1.00 | 0 |
4:152328229:G | C466S | missense_variant | 1.00 | 0 |
4:152326137:T | R505S | missense_variant | 1.00 | 0 |
4:152337883:T | C260* | stop_gained | 1.00 | 0 |
4:152411521:A | Q95* | stop_gained | 1.00 | 0 |
4:152328338:A | R430* | stop_gained | 1.00 | 0 |
4:152326093:T | Y519* | stop_gained | 1.00 | 0 |
4:152326093:C | Y519* | stop_gained | 1.00 | 0 |
4:152411617:A | E63* | stop_gained | 1.00 | 0 |
4:152347019:A | R213* | stop_gained | 1.00 | 0 |
4:152326171:T | C493* | stop_gained | 1.00 | 0 |
4:152330842:A | R338* | stop_gained | 1.00 | 0 |
4:152411527:A | G93* | stop_gained | 1.00 | 0 |
4:152411482:A | Q108* | stop_gained | 1.00 | 0 |
4:152330785:A | R357* | stop_gained | 1.00 | 0 |
4:152411572:A | E78* | stop_gained | 1.00 | 0 |
4:152411767:A | R13* | stop_gained | 1.00 | 0 |
4:152329750:T | C386* | stop_gained | 1.00 | 0 |
4:152330755:A | R367* | stop_gained | 1.00 | 0 |
4:152411338:A | Q156* | stop_gained | 1.00 | 0 |
4:152324369:A | G557V | missense_variant | 1.00 | 0 |
4:152324369:T | G557E | missense_variant | 1.00 | 0 |
4:152324370:T | G557R | missense_variant | 1.00 | 0 |
4:152324369:G | G557A | missense_variant | 1.00 | 0 |
4:152324370:G | G557R | missense_variant | 1.00 | 0 |
4:152328272:A | E452* | stop_gained | 1.00 | 0 |
4:152332647:A | R312* | stop_gained | 1.00 | 0 |
4:152326123:T | Y509* | stop_gained | 1.00 | 0 |
4:152326123:C | Y509* | stop_gained | 1.00 | 0 |
4:152328349:C | S426* | stop_gained | 1.00 | 0 |
4:152328349:T | S426* | stop_gained | 1.00 | 0 |
4:152411773:A | K11* | stop_gained | 1.00 | 0 |
4:152411509:A | E99* | stop_gained | 1.00 | 0 |
4:152350061:A | K189* | stop_gained | 1.00 | 0 |
4:152411547:T | S86* | stop_gained | 1.00 | 0 |
4:152411716:A | E30* | stop_gained | 1.00 | 0 |
4:152350052:A | E192* | stop_gained | 1.00 | 0 |
4:152328209:A | R473* | stop_gained | 0.99 | 0 |
4:152411515:A | E97* | stop_gained | 0.99 | 0 |
4:152411653:A | E51* | stop_gained | 0.99 | 0 |
4:152347050:T | C202* | stop_gained | 0.99 | 0 |
4:152350047:C | Y193* | stop_gained | 0.99 | 0 |
4:152350047:T | Y193* | stop_gained | 0.99 | 0 |
4:152411623:A | G61* | stop_gained | 0.99 | 0 |
4:152332651:T | Y310* | stop_gained | 0.99 | 0 |
4:152332651:C | Y310* | stop_gained | 0.99 | 0 |
4:152326136:G | R505P | missense_variant | 0.99 | 0 |
4:152326136:A | R505L | missense_variant | 0.99 | 0 |
4:152326136:T | R505H | missense_variant | 0.99 | 0 |
4:152329754:T | T385K | missense_variant | 0.99 | 0 |
4:152328313:C | S438C | missense_variant | 0.99 | 0 |
4:152328313:A | S438F | missense_variant | 0.99 | 0 |
4:152328313:T | S438Y | missense_variant | 0.99 | 0 |
4:152329754:A | T385I | missense_variant | 0.99 | 0 |
4:152328349:A | S426L | missense_variant | 0.99 | 0 |
4:152329754:C | T385R | missense_variant | 0.99 | 0 |
4:152326145:T | A502E | missense_variant | 0.99 | 0 |
4:152326145:A | A502V | missense_variant | 0.99 | 0 |
4:152326145:C | A502G | missense_variant | 0.99 | 0 |
4:152411398:A | E136* | stop_gained | 0.99 | 0 |
4:152323015:A | E664* | stop_gained | 0.99 | 0 |
4:152411485:A | E107* | stop_gained | 0.99 | 0 |
4:152326128:A | Q508* | stop_gained | 0.99 | 0 |
4:152326146:A | A502S | missense_variant | 0.99 | 0 |
4:152326146:T | A502T | missense_variant | 0.99 | 0 |
4:152326146:G | A502P | missense_variant | 0.99 | 0 |
4:152322979:A | R676* | stop_gained | 0.99 | 0 |
4:152323118:T | C629* | stop_gained | 0.99 | 0 |
4:152411770:A | R12* | stop_gained | 0.99 | 0 |
4:152411512:A | Q98* | stop_gained | 0.99 | 0 |
4:152411662:A | Q48* | stop_gained | 0.99 | 0 |
4:152411665:A | Q47* | stop_gained | 0.99 | 0 |
4:152411632:A | E58* | stop_gained | 0.99 | 0 |
4:152322964:A | K681* | stop_gained | 0.99 | 0 |
4:152326090:C | D520E | missense_variant | 0.99 | 0 |
4:152326090:T | D520E | missense_variant | 0.99 | 0 |
4:152324370:A | G557* | stop_gained | 0.99 | 0 |
4:152323051:A | K652* | stop_gained | 0.99 | 0 |
4:152328351:T | W425* | stop_gained | 0.99 | 0 |
4:152328352:T | W425* | stop_gained | 0.99 | 0 |
4:152328317:A | G437* | stop_gained | 0.99 | 0 |
4:152328359:A | G423* | stop_gained | 0.99 | 0 |
4:152411464:A | E114* | stop_gained | 0.99 | 0 |
4:152411500:A | E102* | stop_gained | 0.99 | 0 |
4:152411476:A | E110* | stop_gained | 0.99 | 0 |
4:152411473:A | E111* | stop_gained | 0.99 | 0 |
4:152411467:A | E113* | stop_gained | 0.99 | 0 |
4:152411461:A | E115* | stop_gained | 0.99 | 0 |
4:152411458:A | E116* | stop_gained | 0.99 | 0 |
4:152411455:A | E117* | stop_gained | 0.99 | 0 |
4:152350078:T | L183* | stop_gained | 0.99 | 0 |
4:152411314:A | K164* | stop_gained | 0.99 | 0 |
4:152324200:T | C613* | stop_gained | 0.99 | 0 |
4:152328344:A | Q428* | stop_gained | 0.99 | 0 |
4:152328346:T | S427* | stop_gained | 0.99 | 0 |
4:152329688:T | S407* | stop_gained | 0.99 | 0 |
4:152324196:A | Q615* | stop_gained | 0.99 | 0 |
4:152324205:A | Q612* | stop_gained | 0.99 | 0 |
4:152324294:T | S582* | stop_gained | 0.99 | 0 |
4:152328346:C | S427* | stop_gained | 0.99 | 0 |
4:152329688:C | S407* | stop_gained | 0.99 | 0 |
4:152330782:A | Q358* | stop_gained | 0.99 | 0 |
4:152324187:A | Q618* | stop_gained | 0.99 | 0 |
4:152324298:A | Q581* | stop_gained | 0.99 | 0 |
4:152328383:A | R415* | stop_gained | 0.99 | 0 |
4:152411518:A | E96* | stop_gained | 0.99 | 0 |
4:152411569:A | E79* | stop_gained | 0.99 | 0 |
4:152411659:A | E49* | stop_gained | 0.99 | 0 |
4:152411529:T | S92* | stop_gained | 0.99 | 0 |
4:152411404:A | E134* | stop_gained | 0.99 | 0 |
4:152411443:A | E121* | stop_gained | 0.99 | 0 |
4:152411529:C | S92* | stop_gained | 0.99 | 0 |
4:152332605:A | K326* | stop_gained | 0.99 | 0 |
4:152332606:T | C325* | stop_gained | 0.99 | 0 |
4:152411584:A | Q74* | stop_gained | 0.99 | 0 |
4:152330776:A | R360* | stop_gained | 0.99 | 0 |
4:152411539:A | E89* | stop_gained | 0.99 | 0 |
4:152411656:A | E50* | stop_gained | 0.99 | 0 |
4:152322886:A | K707* | stop_gained | 0.99 | 0 |
4:152346992:A | R222* | stop_gained | 0.99 | 0 |
4:152411578:A | Q76* | stop_gained | 0.99 | 0 |
4:152411599:A | Q69* | stop_gained | 0.99 | 0 |
4:152411677:A | Q43* | stop_gained | 0.99 | 0 |
4:152323105:A | K634* | stop_gained | 0.99 | 0 |
4:152324354:C | S562* | stop_gained | 0.99 | 0 |
4:152324354:T | S562* | stop_gained | 0.99 | 0 |
4:152328387:T | C413* | stop_gained | 0.99 | 0 |
4:152328228:T | C466* | stop_gained | 0.99 | 0 |
4:152411686:A | E40* | stop_gained | 0.99 | 0 |
4:152411305:A | K167* | stop_gained | 0.99 | 0 |
4:152324320:T | C573* | stop_gained | 0.99 | 0 |
4:152411581:A | G75* | stop_gained | 0.99 | 0 |
4:152411497:A | E103* | stop_gained | 0.99 | 0 |
4:152326131:T | V507I | missense_variant | 0.99 | 0 |
4:152326131:G | V507L | missense_variant | 0.99 | 0 |
4:152326131:A | V507F | missense_variant | 0.99 | 0 |
4:152328351:A | W425C | missense_variant | 0.99 | 0 |
4:152328359:T | G423R | missense_variant | 0.99 | 0 |
4:152328359:G | G423R | missense_variant | 0.99 | 0 |
4:152328358:T | G423E | missense_variant | 0.99 | 0 |
4:152328358:G | G423A | missense_variant | 0.99 | 0 |
4:152328358:A | G423V | missense_variant | 0.99 | 0 |
4:152328352:G | W425S | missense_variant | 0.99 | 0 |
4:152328352:A | W425L | missense_variant | 0.99 | 0 |
4:152328351:G | W425C | missense_variant | 0.99 | 0 |
4:152328317:T | G437R | missense_variant | 0.99 | 0 |
4:152328317:G | G437R | missense_variant | 0.99 | 0 |
4:152328316:G | G437A | missense_variant | 0.99 | 0 |
4:152328316:A | G437V | missense_variant | 0.99 | 0 |
4:152411764:A | R14* | stop_gained | 0.99 | 0 |
4:152330839:A | R339* | stop_gained | 0.99 | 0 |
4:152330836:A | K340* | stop_gained | 0.99 | 0 |
4:152330845:A | K337* | stop_gained | 0.99 | 0 |
4:152411758:A | G16* | stop_gained | 0.99 | 0 |
4:152411725:A | Q27* | stop_gained | 0.99 | 0 |
4:152326016:A | Y545F | missense_variant | 0.99 | 0 |
4:152326016:G | Y545S | missense_variant | 0.99 | 0 |
4:152326016:C | Y545C | missense_variant | 0.99 | 0 |
4:152411674:A | Q44* | stop_gained | 0.99 | 0 |
4:152346998:A | Q220* | stop_gained | 0.99 | 0 |
4:152330732:T | K374K | splice_region_variant | 0.99 | 0 |
4:152337918:A | K249* | stop_gained | 0.99 | 0 |
4:152332617:A | R322* | stop_gained | 0.99 | 0 |
4:152332686:A | K299* | stop_gained | 0.99 | 0 |
4:152346946:T | W237* | stop_gained | 0.98 | 0 |
4:152411794:A | E4* | stop_gained | 0.98 | 0 |
4:152346950:A | E236* | stop_gained | 0.98 | 0 |
4:152350097:A | E177* | stop_gained | 0.98 | 0 |
4:152350076:A | G184* | stop_gained | 0.98 | 0 |
4:152346945:T | W237* | stop_gained | 0.98 | 0 |
4:152328230:T | C466S | missense_variant | 0.98 | 0 |
4:152328230:C | C466G | missense_variant | 0.98 | 0 |
4:152328230:G | C466R | missense_variant | 0.98 | 0 |
4:152326214:A | R479L | missense_variant | 0.98 | 0 |
4:152326214:G | R479P | missense_variant | 0.98 | 0 |
4:152411692:A | E38* | stop_gained | 0.98 | 0 |
4:152411713:A | E31* | stop_gained | 0.98 | 0 |
4:152411689:A | E39* | stop_gained | 0.98 | 0 |
4:152346941:A | K239* | stop_gained | 0.98 | 0 |
4:152324271:A | K590* | stop_gained | 0.98 | 0 |
4:152326065:A | E529* | stop_gained | 0.98 | 0 |
4:152323135:A | Q624* | stop_gained | 0.98 | 0 |
4:152323083:T | S641* | stop_gained | 0.98 | 0 |
4:152323083:C | S641* | stop_gained | 0.98 | 0 |
4:152323114:A | Q631* | stop_gained | 0.98 | 0 |
4:152326101:A | G517* | stop_gained | 0.98 | 0 |
4:152322972:C | S678* | stop_gained | 0.98 | 0 |
4:152322972:T | S678* | stop_gained | 0.98 | 0 |
4:152326013:T | S546* | stop_gained | 0.98 | 0 |
4:152326013:C | S546* | stop_gained | 0.98 | 0 |
4:152326185:A | E489* | stop_gained | 0.98 | 0 |
4:152328289:T | W446* | stop_gained | 0.98 | 0 |
4:152330802:T | W351* | stop_gained | 0.98 | 0 |
4:152329691:T | W406* | stop_gained | 0.98 | 0 |
4:152324277:A | E588* | stop_gained | 0.98 | 0 |
4:152324283:A | G586* | stop_gained | 0.98 | 0 |
4:152330760:T | W365* | stop_gained | 0.98 | 0 |
4:152330759:T | W365* | stop_gained | 0.98 | 0 |
4:152330752:A | G368* | stop_gained | 0.98 | 0 |
4:152330749:A | E369* | stop_gained | 0.98 | 0 |
4:152324334:A | E569* | stop_gained | 0.98 | 0 |
4:152326059:A | E531* | stop_gained | 0.98 | 0 |
4:152329776:A | G378* | stop_gained | 0.98 | 0 |
4:152330801:T | W351* | stop_gained | 0.98 | 0 |
4:152330860:A | E332* | stop_gained | 0.98 | 0 |
4:152328371:A | G419* | stop_gained | 0.98 | 0 |
4:152324221:T | W606* | stop_gained | 0.98 | 0 |
4:152324222:T | W606* | stop_gained | 0.98 | 0 |
4:152328288:T | W446* | stop_gained | 0.98 | 0 |
4:152328281:A | E449* | stop_gained | 0.98 | 0 |
4:152328275:A | G451* | stop_gained | 0.98 | 0 |
4:152329690:T | W406* | stop_gained | 0.98 | 0 |
4:152324392:G | F549F | splice_region_variant | 0.98 | 0 |
4:152346930:T | Q242Q | splice_region_variant | 0.98 | 0 |
4:152326192:T | W486* | stop_gained | 0.98 | 0 |
4:152328215:A | E471* | stop_gained | 0.98 | 0 |
4:152326072:T | W526* | stop_gained | 0.98 | 0 |
4:152324342:T | W566* | stop_gained | 0.98 | 0 |
4:152324341:T | W566* | stop_gained | 0.98 | 0 |
4:152326006:T | Q548Q | splice_region_variant | 0.97 | 0 |
4:152347048:T | S203* | stop_gained | 0.97 | 0 |
4:152347048:C | S203* | stop_gained | 0.97 | 0 |
4:152323141:A | K622* | stop_gained | 0.97 | 0 |
4:152323066:A | K647* | stop_gained | 0.97 | 0 |
4:152326130:T | V507D | missense_variant | 0.97 | 0 |
4:152326130:C | V507G | missense_variant | 0.97 | 0 |
4:152326130:G | V507A | missense_variant | 0.97 | 0 |
4:152350054:C | S191* | stop_gained | 0.97 | 0 |
4:152350054:T | S191* | stop_gained | 0.97 | 0 |
4:152411425:A | Q127* | stop_gained | 0.97 | 0 |
4:152326100:T | G517E | missense_variant | 0.97 | 0 |
4:152326100:A | G517V | missense_variant | 0.97 | 0 |
4:152326100:G | G517A | missense_variant | 0.97 | 0 |
4:152326101:G | G517R | missense_variant | 0.97 | 0 |
4:152326101:T | G517R | missense_variant | 0.97 | 0 |
4:152326092:A | D520Y | missense_variant | 0.97 | 0 |
4:152326092:G | D520H | missense_variant | 0.97 | 0 |
4:152326092:T | D520N | missense_variant | 0.97 | 0 |
4:152411446:A | Q120* | stop_gained | 0.97 | 0 |
4:152328209:G | R473R | splice_region_variant | 0.97 | 0 |
4:152329746:A | Q388* | stop_gained | 0.97 | 0 |
4:152326013:A | S546L | missense_variant | 0.97 | 0 |
4:152350111:T | L172* | stop_gained | 0.97 | 0 |
4:152328296:A | K444* | stop_gained | 0.97 | 0 |
4:152330743:A | K371* | stop_gained | 0.97 | 0 |
4:152329698:A | K404* | stop_gained | 0.97 | 0 |
4:152324229:A | K604* | stop_gained | 0.97 | 0 |
4:152329674:A | K412* | stop_gained | 0.97 | 0 |
4:152324214:A | K609* | stop_gained | 0.97 | 0 |
4:152330800:A | K352* | stop_gained | 0.97 | 0 |
4:152329779:A | K377* | stop_gained | 0.97 | 0 |
4:152330827:A | K343* | stop_gained | 0.97 | 0 |
4:152330734:A | K374* | stop_gained | 0.97 | 0 |
4:152322925:A | E694* | stop_gained | 0.96 | 0 |
4:152322928:A | E693* | stop_gained | 0.96 | 0 |
4:152322997:A | G670* | stop_gained | 0.96 | 0 |
4:152323075:A | G644* | stop_gained | 0.96 | 0 |
4:152322986:T | W673* | stop_gained | 0.96 | 0 |
4:152322987:T | W673* | stop_gained | 0.96 | 0 |
4:152326132:T | C506* | stop_gained | 0.96 | 0 |
4:152326152:T | H500N | missense_variant | 0.96 | 0 |
4:152326152:C | H500D | missense_variant | 0.96 | 0 |
4:152326152:A | H500Y | missense_variant | 0.96 | 0 |
4:152323042:A | E655* | stop_gained | 0.96 | 0 |
4:152323058:T | W649* | stop_gained | 0.96 | 0 |
4:152323059:T | W649* | stop_gained | 0.96 | 0 |
4:152332700:C | S294* | stop_gained | 0.96 | 0 |
4:152337855:A | Q270* | stop_gained | 0.96 | 0 |
4:152332700:T | S294* | stop_gained | 0.96 | 0 |
4:152337873:A | Q264* | stop_gained | 0.96 | 0 |
4:152332665:A | Q306* | stop_gained | 0.96 | 0 |
4:152337818:C | S282* | stop_gained | 0.96 | 0 |
4:152332674:A | Q303* | stop_gained | 0.96 | 0 |
4:152337818:T | S282* | stop_gained | 0.96 | 0 |
4:152337834:A | Q277* | stop_gained | 0.96 | 0 |
4:152337840:A | Q275* | stop_gained | 0.96 | 0 |
4:152326051:T | C533* | stop_gained | 0.95 | 0 |
4:152329748:T | L387* | stop_gained | 0.95 | 0 |
4:152329748:C | L387* | stop_gained | 0.95 | 0 |
4:152322919:A | K696* | stop_gained | 0.95 | 0 |
4:152326176:A | Q492* | stop_gained | 0.95 | 0 |
4:152326015:C | Y545* | stop_gained | 0.95 | 0 |
4:152326015:T | Y545* | stop_gained | 0.95 | 0 |
4:152332640:T | L314* | stop_gained | 0.94 | 0 |
4:152337914:T | L250* | stop_gained | 0.94 | 0 |
4:152337905:T | L253* | stop_gained | 0.94 | 0 |
4:152337905:C | L253* | stop_gained | 0.94 | 0 |
4:152337815:T | L283* | stop_gained | 0.94 | 0 |
4:152332718:T | L288* | stop_gained | 0.94 | 0 |
4:152350070:A | K186* | stop_gained | 0.94 | 0 |
4:152350115:A | K171* | stop_gained | 0.94 | 0 |
4:152350073:A | K185* | stop_gained | 0.94 | 0 |
4:152350118:A | R170* | stop_gained | 0.94 | 0 |
4:152350121:A | K169* | stop_gained | 0.94 | 0 |
4:152326224:A | S476C | missense_variant | 0.94 | 0 |
4:152326224:G | S476R | missense_variant | 0.94 | 0 |
4:152326224:C | S476G | missense_variant | 0.94 | 0 |
4:152326038:A | Q538* | stop_gained | 0.94 | 0 |
4:152326008:A | Q548* | stop_gained | 0.94 | 0 |
4:152323017:T | L663* | stop_gained | 0.94 | 0 |
4:152323053:T | L651* | stop_gained | 0.94 | 0 |
4:152326091:G | D520A | missense_variant | 0.94 | 0 |
4:152326091:A | D520V | missense_variant | 0.94 | 0 |
4:152326091:C | D520G | missense_variant | 0.94 | 0 |
4:152326193:T | W486* | stop_gained | 0.94 | 0 |
4:152328212:A | K472* | stop_gained | 0.94 | 0 |
4:152337807:A | K286* | stop_gained | 0.94 | 0 |
4:152337867:A | K266* | stop_gained | 0.94 | 0 |
4:152332611:A | K324* | stop_gained | 0.94 | 0 |
4:152326080:A | K524* | stop_gained | 0.93 | 0 |
4:152411680:A | Q42* | stop_gained | 0.93 | 0 |
4:152323116:C | L630* | stop_gained | 0.93 | 0 |
4:152323116:T | L630* | stop_gained | 0.93 | 0 |
4:152411797:A | Q3* | stop_gained | 0.93 | 0 |
4:152346932:A | Q242* | stop_gained | 0.93 | 0 |
4:152346953:A | Q235* | stop_gained | 0.93 | 0 |
4:152346971:A | Q229* | stop_gained | 0.93 | 0 |
4:152346995:A | Q221* | stop_gained | 0.93 | 0 |
4:152347004:A | Q218* | stop_gained | 0.93 | 0 |
4:152411710:A | Q32* | stop_gained | 0.92 | 0 |
4:152324382:C | H553D | missense_variant | 0.92 | 0 |
4:152328244:T | T461N | missense_variant | 0.92 | 0 |
4:152328248:A | H460Y | missense_variant | 0.92 | 0 |
4:152328248:C | H460D | missense_variant | 0.92 | 0 |
4:152328248:T | H460N | missense_variant | 0.92 | 0 |
4:152328241:T | S462Y | missense_variant | 0.92 | 0 |
4:152328241:C | S462C | missense_variant | 0.92 | 0 |
4:152328241:A | S462F | missense_variant | 0.92 | 0 |
4:152328238:T | T463N | missense_variant | 0.92 | 0 |
4:152328238:C | T463S | missense_variant | 0.92 | 0 |
4:152328218:A | H470Y | missense_variant | 0.92 | 0 |
4:152328218:C | H470D | missense_variant | 0.92 | 0 |
4:152328244:C | T461S | missense_variant | 0.92 | 0 |
4:152328218:T | H470N | missense_variant | 0.92 | 0 |
4:152328259:A | T456I | missense_variant | 0.92 | 0 |
4:152328259:C | T456S | missense_variant | 0.92 | 0 |
4:152328259:T | T456N | missense_variant | 0.92 | 0 |
4:152328224:A | H468Y | missense_variant | 0.92 | 0 |
4:152328244:A | T461I | missense_variant | 0.92 | 0 |
4:152328224:C | H468D | missense_variant | 0.92 | 0 |
4:152324382:A | H553Y | missense_variant | 0.92 | 0 |
4:152324382:T | H553N | missense_variant | 0.92 | 0 |
4:152328238:A | T463I | missense_variant | 0.92 | 0 |
4:152324354:A | S562L | missense_variant | 0.92 | 0 |
4:152324357:A | T561I | missense_variant | 0.92 | 0 |
4:152324357:C | T561R | missense_variant | 0.92 | 0 |
4:152324357:T | T561K | missense_variant | 0.92 | 0 |
4:152324366:A | S558F | missense_variant | 0.92 | 0 |
4:152324366:C | S558C | missense_variant | 0.92 | 0 |
4:152324366:T | S558Y | missense_variant | 0.92 | 0 |
4:152328224:T | H468N | missense_variant | 0.92 | 0 |
4:152411303:C | K167K | splice_region_variant | 0.92 | 0 |
4:152411730:C | S25* | stop_gained | 0.92 | 0 |
4:152411730:T | S25* | stop_gained | 0.92 | 0 |
4:152332602:A | E327* | stop_gained | 0.91 | 0 |
4:152332692:A | E297* | stop_gained | 0.91 | 0 |
4:152332649:T | W311* | stop_gained | 0.91 | 0 |
4:152332648:T | W311* | stop_gained | 0.91 | 0 |
4:152332599:A | E328* | stop_gained | 0.91 | 0 |
4:152332635:A | E316* | stop_gained | 0.91 | 0 |
4:152332619:T | W321* | stop_gained | 0.91 | 0 |
4:152332618:T | W321* | stop_gained | 0.91 | 0 |
4:152332614:A | E323* | stop_gained | 0.91 | 0 |
4:152337932:T | W244* | stop_gained | 0.91 | 0 |
4:152337931:T | W244* | stop_gained | 0.91 | 0 |
4:152337927:A | G246* | stop_gained | 0.91 | 0 |
4:152337921:A | E248* | stop_gained | 0.91 | 0 |
4:152337900:A | E255* | stop_gained | 0.91 | 0 |
4:152337882:A | E261* | stop_gained | 0.91 | 0 |
4:152337846:A | E273* | stop_gained | 0.91 | 0 |
4:152337804:A | E287* | stop_gained | 0.91 | 0 |
4:152324208:A | G611* | stop_gained | 0.91 | 0 |
4:152411746:A | R20* | stop_gained | 0.91 | 0 |
4:152411506:A | E100* | stop_gained | 0.91 | 0 |
4:152322940:C | R689G | missense_variant | 0.91 | 0 |
4:152322940:A | R689W | missense_variant | 0.91 | 0 |
4:152323148:T | G619G | splice_region_variant | 0.90 | 0 |
4:152323148:G | G619G | splice_region_variant | 0.90 | 0 |
4:152323148:C | G619G | splice_region_variant | 0.90 | 0 |
4:152324291:T | L583* | stop_gained | 0.90 | 0 |
4:152328376:C | L417* | stop_gained | 0.90 | 0 |
4:152328376:T | L417* | stop_gained | 0.90 | 0 |
4:152329700:C | L403* | stop_gained | 0.90 | 0 |
4:152329700:T | L403* | stop_gained | 0.90 | 0 |
4:152330853:T | L334* | stop_gained | 0.90 | 0 |
4:152324309:T | L577* | stop_gained | 0.90 | 0 |
4:152324309:C | L577* | stop_gained | 0.90 | 0 |
4:152324291:C | L583* | stop_gained | 0.90 | 0 |
4:152324198:T | L614* | stop_gained | 0.90 | 0 |
4:152324198:C | L614* | stop_gained | 0.90 | 0 |
4:152324189:T | L617* | stop_gained | 0.90 | 0 |
4:152350062:T | C188* | stop_gained | 0.90 | 0 |
4:152337802:T | E287E | splice_region_variant | 0.89 | 0 |
4:152337934:A | S243S | splice_region_variant | 0.89 | 0 |
4:152332717:T | L288L | splice_region_variant | 0.88 | 0 |
4:152326022:G | R543T | missense_variant | 0.87 | 0 |
4:152326022:A | R543I | missense_variant | 0.87 | 0 |
4:152326022:T | R543K | missense_variant | 0.87 | 0 |
4:152329755:C | T385A | missense_variant | 0.87 | 0 |
4:152329755:A | T385S | missense_variant | 0.87 | 0 |
4:152326220:G | G477A | missense_variant | 0.87 | 0 |
4:152326221:A | G477C | missense_variant | 0.87 | 0 |
4:152326223:G | S476T | missense_variant | 0.87 | 0 |
4:152326223:T | S476N | missense_variant | 0.87 | 0 |
4:152326220:A | G477V | missense_variant | 0.87 | 0 |
4:152326220:T | G477D | missense_variant | 0.87 | 0 |
4:152326221:T | G477S | missense_variant | 0.87 | 0 |
4:152326223:A | S476I | missense_variant | 0.87 | 0 |
4:152326221:G | G477R | missense_variant | 0.87 | 0 |
4:152324185:C | Q618Q | splice_region_variant | 0.86 | 0 |
4:152329685:A | A408V | missense_variant | 0.86 | 0 |
4:152329685:C | A408G | missense_variant | 0.86 | 0 |
4:152329685:T | A408E | missense_variant | 0.86 | 0 |
4:152329688:A | S407L | missense_variant | 0.86 | 0 |
4:152324196:T | Q615K | missense_variant | 0.86 | 0 |
4:152324205:C | Q612E | missense_variant | 0.86 | 0 |
4:152324205:T | Q612K | missense_variant | 0.86 | 0 |
4:152324234:A | T602I | missense_variant | 0.86 | 0 |
4:152324234:C | T602R | missense_variant | 0.86 | 0 |
4:152324234:T | T602K | missense_variant | 0.86 | 0 |
4:152324237:A | S601F | missense_variant | 0.86 | 0 |
4:152329703:A | T402I | missense_variant | 0.86 | 0 |
4:152329703:C | T402S | missense_variant | 0.86 | 0 |
4:152329703:T | T402N | missense_variant | 0.86 | 0 |
4:152329715:A | S398F | missense_variant | 0.86 | 0 |
4:152329715:C | S398C | missense_variant | 0.86 | 0 |
4:152329715:T | S398Y | missense_variant | 0.86 | 0 |
4:152324237:C | S601C | missense_variant | 0.86 | 0 |
4:152324237:T | S601Y | missense_variant | 0.86 | 0 |
4:152324252:A | S596F | missense_variant | 0.86 | 0 |
4:152324252:C | S596C | missense_variant | 0.86 | 0 |
4:152324252:T | S596Y | missense_variant | 0.86 | 0 |
4:152324274:A | L589F | missense_variant | 0.86 | 0 |
4:152324274:C | L589V | missense_variant | 0.86 | 0 |
4:152324274:T | L589I | missense_variant | 0.86 | 0 |
4:152329764:A | H382Y | missense_variant | 0.86 | 0 |
4:152329764:C | H382D | missense_variant | 0.86 | 0 |
4:152329764:T | H382N | missense_variant | 0.86 | 0 |
4:152329773:A | H379Y | missense_variant | 0.86 | 0 |
4:152329773:C | H379D | missense_variant | 0.86 | 0 |
4:152329773:T | H379N | missense_variant | 0.86 | 0 |
4:152324288:A | T584I | missense_variant | 0.86 | 0 |
4:152324288:C | T584R | missense_variant | 0.86 | 0 |
4:152324288:T | T584K | missense_variant | 0.86 | 0 |
4:152324294:A | S582L | missense_variant | 0.86 | 0 |
4:152324294:C | S582W | missense_variant | 0.86 | 0 |
4:152324298:C | Q581E | missense_variant | 0.86 | 0 |
4:152324298:T | Q581K | missense_variant | 0.86 | 0 |
4:152330736:A | P373L | missense_variant | 0.86 | 0 |
4:152330736:C | P373R | missense_variant | 0.86 | 0 |
4:152330736:T | P373H | missense_variant | 0.86 | 0 |
4:152330737:A | P373S | missense_variant | 0.86 | 0 |
4:152330737:C | P373A | missense_variant | 0.86 | 0 |
4:152330737:T | P373T | missense_variant | 0.86 | 0 |
4:152330857:T | P333T | missense_variant | 0.86 | 0 |
4:152324187:T | Q618K | missense_variant | 0.86 | 0 |
4:152324192:A | T616I | missense_variant | 0.86 | 0 |
4:152328364:A | T421I | missense_variant | 0.86 | 0 |
4:152328364:C | T421R | missense_variant | 0.86 | 0 |
4:152328364:T | T421K | missense_variant | 0.86 | 0 |
4:152328368:A | H420Y | missense_variant | 0.86 | 0 |
4:152328368:C | H420D | missense_variant | 0.86 | 0 |
4:152328368:T | H420N | missense_variant | 0.86 | 0 |
4:152324192:C | T616R | missense_variant | 0.86 | 0 |
4:152324187:C | Q618E | missense_variant | 0.86 | 0 |
4:152328379:A | T416I | missense_variant | 0.86 | 0 |
4:152328379:C | T416R | missense_variant | 0.86 | 0 |
4:152328379:T | T416K | missense_variant | 0.86 | 0 |
4:152324192:T | T616K | missense_variant | 0.86 | 0 |
4:152324196:C | Q615E | missense_variant | 0.86 | 0 |
4:152329679:A | T410I | missense_variant | 0.86 | 0 |
4:152329679:C | T410R | missense_variant | 0.86 | 0 |
4:152329679:T | T410K | missense_variant | 0.86 | 0 |
4:152328283:C | A448G | missense_variant | 0.86 | 0 |
4:152328283:T | A448E | missense_variant | 0.86 | 0 |
4:152330856:A | P333L | missense_variant | 0.86 | 0 |
4:152330856:C | P333R | missense_variant | 0.86 | 0 |
4:152330856:T | P333Q | missense_variant | 0.86 | 0 |
4:152330857:A | P333S | missense_variant | 0.86 | 0 |
4:152330857:C | P333A | missense_variant | 0.86 | 0 |
4:152328346:A | S427L | missense_variant | 0.86 | 0 |
4:152328344:T | Q428K | missense_variant | 0.86 | 0 |
4:152328301:A | T442I | missense_variant | 0.86 | 0 |
4:152328301:C | T442R | missense_variant | 0.86 | 0 |
4:152328301:T | T442K | missense_variant | 0.86 | 0 |
4:152328344:C | Q428E | missense_variant | 0.86 | 0 |
4:152328310:A | T439I | missense_variant | 0.86 | 0 |
4:152328310:C | T439R | missense_variant | 0.86 | 0 |
4:152328310:T | T439K | missense_variant | 0.86 | 0 |
4:152324301:A | H580Y | missense_variant | 0.86 | 0 |
4:152324301:C | H580D | missense_variant | 0.86 | 0 |
4:152324301:T | H580N | missense_variant | 0.86 | 0 |
4:152324312:C | T576R | missense_variant | 0.86 | 0 |
4:152324312:T | T576K | missense_variant | 0.86 | 0 |
4:152324316:A | H575Y | missense_variant | 0.86 | 0 |
4:152324316:C | H575D | missense_variant | 0.86 | 0 |
4:152330779:A | H359Y | missense_variant | 0.86 | 0 |
4:152330779:C | H359D | missense_variant | 0.86 | 0 |
4:152330779:T | H359N | missense_variant | 0.86 | 0 |
4:152324316:T | H575N | missense_variant | 0.86 | 0 |
4:152330782:C | Q358E | missense_variant | 0.86 | 0 |
4:152330782:T | Q358K | missense_variant | 0.86 | 0 |
4:152330793:A | A354V | missense_variant | 0.86 | 0 |
4:152330793:C | A354G | missense_variant | 0.86 | 0 |
4:152330793:T | A354E | missense_variant | 0.86 | 0 |
4:152328277:A | T450I | missense_variant | 0.86 | 0 |
4:152328277:C | T450S | missense_variant | 0.86 | 0 |
4:152330805:A | P350L | missense_variant | 0.86 | 0 |
4:152330805:C | P350R | missense_variant | 0.86 | 0 |
4:152330805:T | P350Q | missense_variant | 0.86 | 0 |
4:152330806:A | P350S | missense_variant | 0.86 | 0 |
4:152330806:C | P350A | missense_variant | 0.86 | 0 |
4:152330806:T | P350T | missense_variant | 0.86 | 0 |
4:152330823:A | P344L | missense_variant | 0.86 | 0 |
4:152330823:C | P344R | missense_variant | 0.86 | 0 |
4:152330823:T | P344Q | missense_variant | 0.86 | 0 |
4:152328277:T | T450N | missense_variant | 0.86 | 0 |
4:152328283:A | A448V | missense_variant | 0.86 | 0 |
4:152330739:C | S372C | missense_variant | 0.86 | 0 |
4:152330739:A | S372F | missense_variant | 0.86 | 0 |
4:152330739:T | S372Y | missense_variant | 0.86 | 0 |
4:152328256:C | L457* | stop_gained | 0.85 | 0 |
4:152328256:T | L457* | stop_gained | 0.85 | 0 |
4:152326040:T | L537* | stop_gained | 0.85 | 0 |
4:152326010:C | L547* | stop_gained | 0.85 | 0 |
4:152326010:T | L547* | stop_gained | 0.85 | 0 |
4:152326169:C | L494* | stop_gained | 0.85 | 0 |
4:152326160:T | L497* | stop_gained | 0.85 | 0 |
4:152326169:T | L494* | stop_gained | 0.85 | 0 |
4:152411605:A | G67* | stop_gained | 0.81 | 0 |
4:152322953:T | C684* | stop_gained | 0.80 | 0 |
4:152411407:A | R133* | stop_gained | 0.80 | 0 |
4:152411318:C | Y162* | stop_gained | 0.80 | 0 |
4:152411318:T | Y162* | stop_gained | 0.80 | 0 |
4:152411574:T | L77* | stop_gained | 0.80 | 0 |
4:152328228:C | C466W | missense_variant | 0.79 | 0 |
4:152328267:T | C453* | stop_gained | 0.79 | 0 |
4:152328252:T | Y458* | stop_gained | 0.79 | 0 |
4:152328252:C | Y458* | stop_gained | 0.79 | 0 |
4:152332708:T | Y291* | stop_gained | 0.78 | 0 |
4:152332708:C | Y291* | stop_gained | 0.78 | 0 |
4:152326014:T | S546T | missense_variant | 0.78 | 0 |
4:152326017:G | Y545H | missense_variant | 0.78 | 0 |
4:152326017:C | Y545D | missense_variant | 0.78 | 0 |
4:152326014:G | S546P | missense_variant | 0.78 | 0 |
4:152326014:C | S546A | missense_variant | 0.78 | 0 |
4:152326017:T | Y545N | missense_variant | 0.78 | 0 |
4:152411448:A | D119V | missense_variant | 0.77 | 0 |
4:152411448:C | D119G | missense_variant | 0.77 | 0 |
4:152411391:T | T138K | missense_variant | 0.77 | 0 |
4:152411391:C | T138R | missense_variant | 0.77 | 0 |
4:152411391:A | T138I | missense_variant | 0.77 | 0 |
4:152411448:G | D119A | missense_variant | 0.77 | 0 |
4:152411683:A | Q41* | stop_gained | 0.76 | 0 |
4:152330789:T | Y355* | stop_gained | 0.76 | 0 |
4:152330789:C | Y355* | stop_gained | 0.76 | 0 |
4:152329738:T | C390* | stop_gained | 0.76 | 0 |
4:152411557:A | R83* | stop_gained | 0.76 | 0 |
4:152328387:G | C413C | splice_region_variant | 0.72 | 0 |
4:152328350:C | S426A | missense_variant | 0.70 | 0 |
4:152328353:G | W425R | missense_variant | 0.70 | 0 |
4:152328353:C | W425G | missense_variant | 0.70 | 0 |
4:152328314:T | S438T | missense_variant | 0.70 | 0 |
4:152328353:T | W425R | missense_variant | 0.70 | 0 |
4:152328350:T | S426T | missense_variant | 0.70 | 0 |
4:152328350:G | S426P | missense_variant | 0.70 | 0 |
4:152328314:G | S438P | missense_variant | 0.70 | 0 |
4:152328314:C | S438A | missense_variant | 0.70 | 0 |
4:152332657:T | C308* | stop_gained | 0.70 | 0 |
4:152411611:A | R65* | stop_gained | 0.70 | 0 |
4:152411668:A | R46* | stop_gained | 0.70 | 0 |
4:152329783:T | V375V | splice_region_variant | 0.68 | 0 |
4:152329783:G | V375V | splice_region_variant | 0.68 | 0 |
4:152329783:A | V375V | splice_region_variant | 0.68 | 0 |
4:152324346:T | V565I | missense_variant | 0.68 | 0 |
4:152328268:T | C453Y | missense_variant | 0.68 | 0 |
4:152324346:G | V565L | missense_variant | 0.68 | 0 |
4:152324346:A | V565F | missense_variant | 0.68 | 0 |
4:152324342:G | W566S | missense_variant | 0.68 | 0 |
4:152324342:A | W566L | missense_variant | 0.68 | 0 |
4:152324341:G | W566C | missense_variant | 0.68 | 0 |
4:152324341:A | W566C | missense_variant | 0.68 | 0 |
4:152324340:T | D567N | missense_variant | 0.68 | 0 |
4:152324340:G | D567H | missense_variant | 0.68 | 0 |
4:152328225:G | M467I | missense_variant | 0.68 | 0 |
4:152326071:A | D527Y | missense_variant | 0.68 | 0 |
4:152326071:G | D527H | missense_variant | 0.68 | 0 |
4:152326071:T | D527N | missense_variant | 0.68 | 0 |
4:152328225:A | M467I | missense_variant | 0.68 | 0 |
4:152326072:A | W526C | missense_variant | 0.68 | 0 |
4:152328215:T | E471K | missense_variant | 0.68 | 0 |
4:152328215:G | E471Q | missense_variant | 0.68 | 0 |
4:152324391:T | D550N | missense_variant | 0.68 | 0 |
4:152328208:G | R473T | missense_variant | 0.68 | 0 |
4:152324391:G | D550H | missense_variant | 0.68 | 0 |
4:152324391:A | D550Y | missense_variant | 0.68 | 0 |
4:152324387:T | G551D | missense_variant | 0.68 | 0 |
4:152324387:G | G551A | missense_variant | 0.68 | 0 |
4:152326072:G | W526C | missense_variant | 0.68 | 0 |
4:152326073:A | W526L | missense_variant | 0.68 | 0 |
4:152326073:G | W526S | missense_variant | 0.68 | 0 |
4:152326077:A | V525L | missense_variant | 0.68 | 0 |
4:152326077:G | V525L | missense_variant | 0.68 | 0 |
4:152324387:A | G551V | missense_variant | 0.68 | 0 |
4:152328225:T | M467I | missense_variant | 0.68 | 0 |
4:152326077:T | V525M | missense_variant | 0.68 | 0 |
4:152328236:A | V464L | missense_variant | 0.68 | 0 |
4:152328236:G | V464L | missense_variant | 0.68 | 0 |
4:152324376:T | V555M | missense_variant | 0.68 | 0 |
4:152324376:G | V555L | missense_variant | 0.68 | 0 |
4:152324376:A | V555L | missense_variant | 0.68 | 0 |
4:152324372:G | S556T | missense_variant | 0.68 | 0 |
4:152324372:A | S556I | missense_variant | 0.68 | 0 |
4:152324361:T | D560N | missense_variant | 0.68 | 0 |
4:152324361:G | D560H | missense_variant | 0.68 | 0 |
4:152324361:A | D560Y | missense_variant | 0.68 | 0 |
4:152328236:T | V464M | missense_variant | 0.68 | 0 |
4:152328274:T | G451E | missense_variant | 0.68 | 0 |
4:152328274:G | G451A | missense_variant | 0.68 | 0 |
4:152328274:A | G451V | missense_variant | 0.68 | 0 |
4:152324348:T | R564H | missense_variant | 0.68 | 0 |
4:152324348:G | R564P | missense_variant | 0.68 | 0 |
4:152324348:A | R564L | missense_variant | 0.68 | 0 |
4:152324340:A | D567Y | missense_variant | 0.68 | 0 |
4:152328251:T | G459R | missense_variant | 0.68 | 0 |
4:152328251:G | G459R | missense_variant | 0.68 | 0 |
4:152328268:G | C453S | missense_variant | 0.68 | 0 |
4:152328268:A | C453F | missense_variant | 0.68 | 0 |
4:152328251:A | G459W | missense_variant | 0.68 | 0 |
4:152328250:T | G459E | missense_variant | 0.68 | 0 |
4:152328250:G | G459A | missense_variant | 0.68 | 0 |
4:152326178:A | G491V | missense_variant | 0.68 | 0 |
4:152326178:G | G491A | missense_variant | 0.68 | 0 |
4:152326178:T | G491D | missense_variant | 0.68 | 0 |
4:152328250:A | G459V | missense_variant | 0.68 | 0 |
4:152326191:A | D487Y | missense_variant | 0.68 | 0 |
4:152328208:A | R473I | missense_variant | 0.68 | 0 |
4:152326191:G | D487H | missense_variant | 0.68 | 0 |
4:152326191:T | D487N | missense_variant | 0.68 | 0 |
4:152326192:A | W486C | missense_variant | 0.68 | 0 |
4:152326192:G | W486C | missense_variant | 0.68 | 0 |
4:152326158:G | M498L | missense_variant | 0.66 | 0 |
4:152326158:A | M498L | missense_variant | 0.66 | 0 |
4:152326158:C | M498V | missense_variant | 0.66 | 0 |
4:152329672:C | K412K | splice_region_variant | 0.66 | 0 |
4:152326133:G | C506S | missense_variant | 0.66 | 0 |
4:152326133:A | C506F | missense_variant | 0.66 | 0 |
4:152326133:T | C506Y | missense_variant | 0.66 | 0 |
4:152324392:C | F549L | missense_variant | 0.65 | 0 |
4:152324392:T | F549L | missense_variant | 0.65 | 0 |
4:152324383:C | I552M | missense_variant | 0.65 | 0 |
4:152411517:G | E96A | missense_variant | 0.64 | 0 |
4:152411517:C | E96G | missense_variant | 0.64 | 0 |
4:152411517:A | E96V | missense_variant | 0.64 | 0 |
4:152326140:G | V504L | missense_variant | 0.64 | 0 |
4:152326149:A | V501F | missense_variant | 0.64 | 0 |
4:152326149:G | V501L | missense_variant | 0.64 | 0 |
4:152326149:T | V501I | missense_variant | 0.64 | 0 |
4:152326154:A | G499V | missense_variant | 0.64 | 0 |
4:152326154:G | G499A | missense_variant | 0.64 | 0 |
4:152326154:T | G499D | missense_variant | 0.64 | 0 |
4:152326140:A | V504F | missense_variant | 0.64 | 0 |
4:152326140:T | V504I | missense_variant | 0.64 | 0 |
4:152326097:T | A518E | missense_variant | 0.64 | 0 |
4:152326097:A | A518V | missense_variant | 0.64 | 0 |
4:152326097:C | A518G | missense_variant | 0.64 | 0 |
4:152326113:A | R513W | missense_variant | 0.63 | 0 |
4:152326113:C | R513G | missense_variant | 0.63 | 0 |
4:152326128:C | Q508E | missense_variant | 0.60 | 0 |
4:152326128:T | Q508K | missense_variant | 0.60 | 0 |
4:152324385:C | I552V | missense_variant | 0.58 | 0 |
4:152324385:A | I552F | missense_variant | 0.58 | 0 |
4:152324385:G | I552L | missense_variant | 0.58 | 0 |
4:152326155:T | G499S | missense_variant | 0.58 | 0 |
4:152326155:A | G499C | missense_variant | 0.58 | 0 |
4:152326155:G | G499R | missense_variant | 0.58 | 0 |
4:152326011:T | L547I | missense_variant | 0.55 | 0 |
4:152326011:C | L547V | missense_variant | 0.55 | 0 |
4:152326151:A | H500L | missense_variant | 0.54 | 0 |
4:152326151:C | H500R | missense_variant | 0.54 | 0 |
4:152326151:G | H500P | missense_variant | 0.54 | 0 |
4:152326142:T | A503E | missense_variant | 0.53 | 0 |
4:152326142:A | A503V | missense_variant | 0.53 | 0 |
4:152326142:C | A503G | missense_variant | 0.53 | 0 |
4:152326148:C | V501G | missense_variant | 0.53 | 0 |
4:152326148:G | V501A | missense_variant | 0.53 | 0 |
4:152326148:T | V501D | missense_variant | 0.53 | 0 |
4:152346962:A | T232S | missense_variant | 0.52 | 0 |
4:152346962:C | T232A | missense_variant | 0.52 | 0 |
4:152346962:G | T232P | missense_variant | 0.52 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(ESCA) Esophageal cancer | SOLID | 0.22 | 0.31 |