Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-15580035-G-A p.Ser804Phe missense ACE2 2 79350 2.52048E-5 39675 0 1.15459E-5
X-15580066-C-A p.Gly794* stop_gained ACE2 3 80586 3.72273E-5 40293 1 NA
X-15580093-C-T p.Asp785Asn missense ACE2 5 80702 6.19563E-5 40351 2 3.86678E-5
X-15580093-C-A p.Asp785Tyr missense ACE2 1 80702 1.23913E-5 40351 0 NA
X-15580094-G-T p.Ile784Ile synonymous ACE2 2 80654 2.47973E-5 40327 1 1.14474E-5
X-15580101-G-A p.Ala782Val missense ACE2 1 80642 1.24005E-5 40321 0 6.07839E-5
X-15580105-A-G p.Tyr781His missense ACE2 1 80536 1.24168E-5 40268 0 4.5335E-5
X-15580115-T-C p.Gly777Gly synonymous ACE2 2 80066 2.49794E-5 40033 1 1.36135E-4
X-15580118-A-T p.Ser776Arg missense ACE2 3 79840 3.75752E-5 39920 1 4.55021E-5
X-15580122-C-A p.Arg775Ile missense ACE2 2 79692 2.50966E-5 39846 1 NA
X-15580131-T-C p.Asn772Ser missense ACE2 5 78878 6.3389E-5 39439 0 6.20417E-5
X-15582151-T-C p.Lys769Glu missense ACE2 1 80920 1.23579E-5 40460 0 1.22877E-5
X-15582154-G-A p.Arg768Trp missense ACE2 2 80798 2.47531E-5 40399 1 1.38522E-5
X-15582190-C-T p.Gly756Ser missense ACE2 1 82082 1.21829E-5 41041 0 NA
X-15582204-C-T p.Gly751Glu missense ACE2 1 82224 1.21619E-5 41112 0 1.1873E-5
X-15582209-C-T p.Val749Val synonymous ACE2 3730 82108 0.045428 41054 1008 0.0395807
X-15582223-C-T p.Val745Ile missense ACE2 2 82274 2.4309E-5 41137 0 4.60087E-5
X-15582235-T-C p.Ile741Val missense ACE2 8 82448 9.70309E-5 41224 2 0.00137552
X-15582237-G-T p.Ser740Tyr missense ACE2 1 82474 1.2125E-5 41237 0 NA
X-15582250-G-T p.Gln736Lys missense ACE2 1 82408 1.21347E-5 41204 0 NA
X-15582265-G-A p.Leu731Phe missense ACE2 108 82428 0.00131023 41214 22 0.0035953
X-15582298-T-C p.Asn720Asp missense ACE2 1210 82184 0.0147231 41092 301 0.0165364
X-15582299-G-T p.Asp719Glu missense ACE2 2 82208 2.43285E-5 41104 0 6.01525E-6
X-15582309-C-T p.Arg716His missense ACE2 5 81986 6.0986E-5 40993 1 1.38562E-4
X-15582310-G-A p.Arg716Cys missense ACE2 6 81994 7.31761E-5 40997 1 6.19149E-6
X-15582327-C-T p.Arg710His missense ACE2 1 81652 1.22471E-5 40826 0 4.59474E-5
X-15582328-G-A p.Arg710Cys missense ACE2 1 81614 1.22528E-5 40807 0 9.1916E-5
X-15582331-T-G p.Ser709Arg missense ACE2 7 81528 8.58601E-5 40764 1 6.88108E-6
X-15582334-G-A p.Arg708Trp missense ACE2 1 81410 1.22835E-5 40705 0 0.0056391
X-15584372-T-C c.2114+4A>G splice_region ACE2 2 79544 2.51433E-5 39772 0 1.16172E-5
X-15584392-C-T p.Val700Ile missense ACE2 1 80358 1.24443E-5 40179 0 NA
X-15584401-T-C p.Arg697Gly missense ACE2 7 80688 8.67539E-5 40344 3 2.52134E-4
X-15584413-C-G p.Asp693His missense ACE2 3 80972 3.70498E-5 40486 1 NA
X-15584416-A-G p.Ser692Pro missense ACE2 49 81004 6.04908E-4 40502 11 0.00209749
X-15584420-A-G p.Asn690Asn synonymous ACE2 834 81060 0.0102887 40530 192 0.0174413
X-15584463-T-A p.Lys676Ile missense ACE2 1 80850 1.23686E-5 40425 0 NA
X-15584472-G-C p.Ala673Gly missense ACE2 21 80606 2.60527E-4 40303 4 5.47921E-6
X-15584478-C-T p.Arg671Gln missense ACE2 1 80306 1.24524E-5 40153 0 9.23105E-5
X-15584482-C-T p.Val670Met missense ACE2 2 80242 2.49246E-5 40121 1 NA
X-15585894-A-G p.Met651Thr missense ACE2 1 80754 1.23833E-5 40377 0 NA
X-15585915-C-T p.Arg644Gln missense ACE2 2 80714 2.47788E-5 40357 1 NA
X-15585933-T-C p.Asn638Ser missense ACE2 2 80196 2.49389E-5 40098 0 2.91872E-4
X-15585937-C-T p.Asp637Asn missense ACE2 4 79604 5.02487E-5 39802 1 NA
X-15585938-G-A p.Asn636Asn synonymous ACE2 3 79562 3.77064E-5 39781 1 2.94721E-5
X-15585945-T-TA p.Glu634fs frameshift ACE2 1 79520 1.25755E-5 39760 0 NA
X-15585948-T-C p.Tyr633Cys missense+splice_region ACE2 1 79258 1.2617E-5 39629 0 5.93384E-6
X-15588427-T-G p.Gly629Gly synonymous ACE2 3 80130 3.74392E-5 40065 1 NA
X-15588430-A-G p.Leu628Leu synonymous ACE2 1 80216 1.24663E-5 40108 0 NA
X-15588434-G-T p.Ala627Asp missense ACE2 1 80322 1.24499E-5 40161 0 NA
X-15588460-G-A p.Ile618Ile synonymous ACE2 1 80412 1.2436E-5 40206 0 NA
X-15588474-C-A p.Ala614Ser missense+splice_region ACE2 9 80040 1.12444E-4 40020 3 2.19349E-4
X-15588474-C-T p.Ala614Thr missense+splice_region ACE2 1 80040 1.24938E-5 40020 0 NA
X-15589738-TG-T c.1837+8delC splice_region ACE2 82 80818 0.00101463 40409 12 0.00236407
X-15589793-G-T p.Asp597Glu missense ACE2 10 82254 1.21575E-4 41127 3 5.03502E-4
X-15589801-G-C p.Leu595Val missense ACE2 5 82356 6.0712E-5 41178 2 2.29893E-5
X-15589806-G-T p.Thr593Asn missense ACE2 2 82388 2.42754E-5 41194 1 4.58631E-5
X-15589817-C-T p.Glu589Glu synonymous ACE2 1 82418 1.21333E-5 41209 0 1.14406E-5
X-15589828-T-C p.Asn586Asp missense ACE2 1 82510 1.21197E-5 41255 0 NA
X-15589839-C-T p.Arg582Lys missense ACE2 6 82552 7.26815E-5 41276 0 3.42857E-5
X-15589848-A-T p.Met579Lys missense ACE2 1 82566 1.21115E-5 41283 0 NA
X-15589849-T-G p.Met579Leu missense ACE2 1 82578 1.21098E-5 41289 0 NA
X-15589888-A-ATGT p.Pro565_Trp566insThr conservative_inframe_insertion ACE2 1 82396 1.21365E-5 41198 0 NA
X-15589896-G-A p.Ser563Leu missense ACE2 1 82160 1.21714E-5 41080 0 5.6211E-6
X-15589919-G-T p.Phe555Leu missense+splice_region ACE2 4 81684 4.89692E-5 40842 1 NA
X-15589925-CA-C c.1665-7delT splice_region ACE2 292 81528 0.00358159 40764 82 0.00621228
X-15590326-C-T p.Leu554Leu splice_region+synonymous ACE2 2 81472 2.45483E-5 40736 1 NA
X-15590348-G-C p.Ser547Cys missense ACE2 6 81936 7.32279E-5 40968 0 3.99662E-4
X-15590352-T-C p.Asn546Asp missense ACE2 7 82020 8.5345E-5 41010 1 9.07276E-5
X-15590454-G-A c.1542-8C>T splice_region ACE2 9 81312 1.10685E-4 40656 1 0.00125
X-15591485-T-C c.1541+5A>G splice_region ACE2 1 77056 1.29776E-5 38528 0 1.54373E-4
X-15591493-A-G p.Ile513Thr missense ACE2 1 77890 1.28386E-5 38945 0 NA
X-15591517-T-C p.His505Arg missense ACE2 4 78812 5.07537E-5 39406 1 6.5475E-6
X-15591530-C-T p.Ala501Thr missense ACE2 1 79586 1.2565E-5 39793 0 9.26999E-5
X-15591550-T-A p.Asp494Val missense ACE2 2 79766 2.50733E-5 39883 1 6.25E-4
X-15591554-G-A p.His493Tyr missense ACE2 1 79668 1.25521E-5 39834 0 NA
X-15591570-C-T p.Val487Val synonymous ACE2 2 79234 2.52417E-5 39617 1 NA
X-15591579-T-C p.Ile484Met missense ACE2 2 78962 2.53286E-5 39481 1 NA
X-15591582-C-G p.Glu483Asp missense ACE2 1 78850 1.26823E-5 39425 0 4.63908E-5
X-15591586-C-T p.Arg482Gln missense+splice_region ACE2 4 78464 5.09788E-5 39232 1 6.88705E-4
X-15593818-G-A p.Asp471Asp synonymous ACE2 2 82040 2.43784E-5 41020 1 5.68363E-6
X-15593829-T-C p.Ile468Val missense ACE2 14 82092 1.7054E-4 41046 4 8.63335E-4
X-15593836-T-C p.Lys465Lys synonymous ACE2 1 82170 1.21699E-5 41085 0 3.44527E-5
X-15593843-A-C p.Val463Gly missense ACE2 2 82102 2.43599E-5 41051 0 NA
X-15593867-A-G p.Met455Thr missense ACE2 2 81878 2.44266E-5 40939 1 NA
X-15593878-T-C p.Pro451Pro synonymous ACE2 3 81798 3.66757E-5 40899 1 NA
X-15593883-G-T p.Leu450Met missense ACE2 1 81720 1.22369E-5 40860 0 NA
X-15593901-G-A p.Leu444Phe missense ACE2 1 81306 1.22992E-5 40653 0 NA
X-15593911-G-C p.Leu440Leu synonymous ACE2 6 80988 7.40851E-5 40494 2 6.06837E-6
X-15593926-T-A p.Glu435Asp missense ACE2 1 80452 1.24298E-5 40226 0 NA
X-15596214-T-C p.Asn432Ser missense+splice_region ACE2 2 81716 2.4475E-5 40858 1 NA
X-15596230-C-A p.Asp427Tyr missense ACE2 4 82006 4.87769E-5 41003 2 1.0948E-5
X-15596233-G-C p.Pro426Ala missense ACE2 2 82100 2.43605E-5 41050 0 5.46866E-6
X-15596247-A-G p.Ile421Thr missense ACE2 5 82292 6.07592E-5 41146 2 5.46379E-6
X-15596288-G-T p.Ile407Ile synonymous ACE2 2 82402 2.42713E-5 41201 1 5.45989E-6
X-15596315-T-C p.Glu398Glu synonymous ACE2 2 82250 2.43161E-5 41125 1 NA
X-15596317-C-T p.Glu398Lys missense ACE2 1 82230 1.2161E-5 41115 0 1.14381E-5
X-15596320-T-C p.Asn397Asp missense ACE2 6 82186 7.30051E-5 41093 1 4.58127E-5
X-15596328-T-C p.Asn394Ser missense ACE2 2 82108 2.43582E-5 41054 1 NA
X-15596343-G-T p.Pro389His missense ACE2 5 82006 6.09711E-5 41003 1 3.82576E-5
X-15596345-T-C p.Gln388Gln synonymous ACE2 4 81980 4.87924E-5 40990 0 1.03009E-4
X-15596357-T-C p.Ala384Ala synonymous ACE2 1 81908 1.22088E-5 40954 0 NA
X-15596376-T-C p.His378Arg missense ACE2 6 81722 7.34196E-5 40861 2 1.36463E-4
X-15596379-C-T p.Gly377Glu missense ACE2 1 81654 1.22468E-5 40827 0 1.14783E-5
X-15596391-T-A p.His373Leu missense ACE2 1 81500 1.22699E-5 40750 0 NA
X-15596412-A-G p.Met366Thr missense ACE2 2 81174 2.46384E-5 40587 0 1.16414E-5
X-15599352-G-A p.Gly354Gly synonymous ACE2 4 81366 4.91606E-5 40683 1 NA
X-15599363-G-A p.Leu351Leu synonymous ACE2 81 81716 9.91238E-4 40858 12 0.00242485
X-15599388-T-C p.Ala342Ala synonymous ACE2 2 82046 2.43766E-5 41023 1 NA
X-15599392-T-C p.Lys341Arg missense ACE2 50 82082 6.09147E-4 41041 6 0.00100645
X-15599401-T-C p.Asn338Ser missense ACE2 4 82080 4.87329E-5 41040 1 1.65937E-5
X-15599420-T-A p.Met332Leu missense ACE2 4 82220 4.865E-5 41110 1 1.65432E-5
X-15599428-T-C p.Glu329Gly missense ACE2 3 82256 3.64715E-5 41128 1 9.12784E-5
X-15599438-C-T p.Gly326Arg missense ACE2 1 82292 1.21518E-5 41146 0 NA
X-15599453-G-A p.Pro321Ser missense ACE2 1 82290 1.21521E-5 41145 0 NA
X-15599466-T-C p.Val316Val synonymous ACE2 1 82302 1.21504E-5 41151 0 4.54504E-5
X-15599480-C-T p.Glu312Lys missense ACE2 2 82126 2.43528E-5 41063 0 2.31468E-5
X-15599481-G-C p.Ala311Ala synonymous ACE2 3 82096 3.65426E-5 41048 1 9.13117E-5
X-15599481-G-A p.Ala311Ala synonymous ACE2 5 82096 6.09043E-5 41048 1 0.00125
X-15599483-C-T p.Ala311Thr missense ACE2 1 82122 1.2177E-5 41061 0 NA
X-15599490-G-C p.Phe308Leu missense ACE2 1 82014 1.2193E-5 41007 0 1.16451E-5
X-15599515-T-C c.901-2A>G splice_acceptor ACE2 2 80988 2.4695E-5 40494 1 NA
X-15603595-T-C c.900+3A>G splice_region ACE2 1 79916 1.25131E-5 39958 0 NA
X-15603602-T-C p.Asp299Gly missense ACE2 13 80294 1.61905E-4 40147 2 NA
X-15603613-A-G p.Asp295Asp synonymous ACE2 2 80474 2.48527E-5 40237 1 NA
X-15603624-C-T p.Asp292Asn missense ACE2 1 80694 1.23925E-5 40347 0 1.13967E-5
X-15603630-T-G p.Asn290His missense ACE2 1 80788 1.23781E-5 40394 0 1.14003E-5
X-15603631-T-C p.Pro289Pro synonymous ACE2 1 80786 1.23784E-5 40393 0 1.14002E-5
X-15603690-T-C p.Met270Val missense ACE2 2 79702 2.50935E-5 39851 0 2.98299E-5
X-15603690-T-G p.Met270Leu missense ACE2 2 79704 2.50928E-5 39852 1 NA
X-15605870-T-C c.802+6A>G splice_region ACE2 1 77154 1.29611E-5 38577 0 NA
X-15605891-G-A p.Pro263Ser missense ACE2 14 78732 1.77818E-4 39366 3 5.94008E-5
X-15605902-A-G p.Ile259Thr missense ACE2 2 79276 2.52283E-5 39638 1 4.57268E-5
X-15605910-G-A p.Ile256Ile synonymous ACE2 3 79884 3.75545E-5 39942 1 NA
X-15605952-G-A p.Ala242Ala synonymous ACE2 1 79652 1.25546E-5 39826 0 NA
X-15605973-T-C p.Pro235Pro synonymous ACE2 3 78416 3.82575E-5 39208 1 NA
X-15607505-C-T p.Gly220Ser missense ACE2 2 81098 2.46615E-5 40549 1 3.42064E-5
X-15607508-G-A p.Arg219Cys missense ACE2 57 81144 7.02455E-4 40572 14 6.87758E-4
X-15607532-C-T p.Gly211Arg missense ACE2 121 81214 0.00148989 40607 31 0.00140201
X-15607546-T-C p.Asp206Gly missense ACE2 57 80920 7.04399E-4 40460 19 3.86885E-4
X-15607571-C-T p.Asp198Asn missense ACE2 2 80026 2.49919E-5 40013 0 5.88166E-6
X-15607580-CTGTT-C c.584-5_584-2delAACA splice_acceptor ACE2 1 79060 1.26486E-5 39530 0 3.42521E-5
X-15607585-T-C c.584-6A>G splice_region ACE2 1 78172 1.27923E-5 39086 0 NA
X-15607586-G-GT c.584-8_584-7insA splice_region ACE2 303 69094 0.00438533 34547 15 0.0606368
X-15607586-GT-G c.584-8delA splice_region ACE2 10 77024 1.2983E-4 38512 1 0.00597982
X-15607586-G-GTT c.584-8_584-7insAA splice_region ACE2 5 77552 6.44729E-5 38776 0 4.08211E-4
X-15607586-G-T c.584-7C>A splice_region ACE2 4 77598 5.15477E-5 38799 1 4.31537E-4
X-15607586-G-GTTT c.584-8_584-7insAAA splice_region ACE2 1 77600 1.28866E-5 38800 0 1.16632E-5
X-15609859-T-C p.Lys187Arg missense ACE2 1 82518 1.21186E-5 41259 0 NA
X-15609900-G-C p.Gly173Gly synonymous ACE2 5 82746 6.04259E-5 41373 1 4.57959E-5
X-15609921-T-C p.Glu166Glu synonymous ACE2 2 82818 2.41493E-5 41409 1 5.45384E-6
X-15610347-C-CTTAGTAG c.439+4_439+5insCTACTAA splice_region ACE2 2 77918 2.5668E-5 38959 0 1.18053E-5
X-15610348-C-T c.439+4G>A splice_region ACE2 17352 77246 0.224633 38623 5169 0.284965
X-15610354-G-C p.Pro146Arg missense+splice_region ACE2 1 78346 1.27639E-5 39173 0 NA
X-15610421-T-C p.Ser124Gly missense ACE2 4 78654 5.08556E-5 39327 2 NA
X-15610429-T-C p.Asn121Ser missense ACE2 2 78204 2.55741E-5 39102 1 NA
X-15610443-C-T p.Leu116Leu splice_region+synonymous ACE2 3 77158 3.88813E-5 38579 1 NA
X-15610452-A-T c.346-7T>A splice_region ACE2 1 76290 1.31079E-5 38145 0 2.3397E-5
X-15612963-C-T c.345+5G>A splice_region ACE2 13 81660 1.59197E-4 40830 2 2.84065E-5
X-15612964-G-A c.345+4C>T splice_region ACE2 8 81678 9.79456E-5 40839 2 1.02526E-4
X-15612969-C-T p.Arg115Gln missense+splice_region ACE2 11 81866 1.34366E-4 40933 3 2.0529E-4
X-15612970-G-A p.Arg115Trp missense+splice_region ACE2 3 81898 3.66309E-5 40949 1 NA
X-15612991-G-C p.Leu108Val missense ACE2 2 82214 2.43268E-5 41107 0 NA
X-15612993-A-G p.Val107Ala missense ACE2 5 82222 6.0811E-5 41111 1 2.27985E-5
X-15612998-A-T p.Ser105Ser synonymous ACE2 1 82318 1.2148E-5 41159 0 NA
X-15613006-T-G p.Asn103His missense ACE2 3 82372 3.64201E-5 41186 0 4.55851E-5
X-15613008-T-G p.Gln102Pro missense ACE2 10 82370 1.21403E-4 41185 3 4.55519E-5
X-15613038-G-A p.Thr92Ile missense ACE2 7 82676 8.46679E-5 41338 3 2.27996E-5
X-15613056-T-C p.Gln86Arg missense ACE2 1 82736 1.20866E-5 41368 0 1.14012E-5
X-15613060-G-A p.Leu85Leu synonymous ACE2 3 82708 3.62722E-5 41354 1 9.07771E-5
X-15613062-G-A p.Pro84Leu missense ACE2 2 82706 2.4182E-5 41353 1 NA
X-15613067-C-T p.Met82Ile missense ACE2 2 82700 2.41838E-5 41350 1 1.36295E-4
X-15613111-T-C p.Lys68Glu missense ACE2 2 82580 2.42189E-5 41290 1 1.14215E-5
X-15613112-G-A p.Asp67Asp synonymous ACE2 3 82544 3.63443E-5 41272 1 5.47471E-6
X-15613115-C-T p.Gly66Gly synonymous ACE2 1 82506 1.21203E-5 41253 0 1.36662E-4
X-15618855-T-C p.Gln60Gln synonymous ACE2 2 82306 2.42996E-5 41153 0 2.37945E-5
X-15618870-A-C p.Thr55Thr synonymous ACE2 2 82550 2.42277E-5 41275 0 NA
X-15618880-G-A p.Thr52Ile missense ACE2 3 82692 3.62792E-5 41346 0 NA
X-15618888-A-G p.Asn49Asn synonymous ACE2 1 82794 1.20782E-5 41397 0 NA
X-15618918-C-T p.Leu39Leu synonymous ACE2 32 82950 3.85775E-4 41475 11 3.00097E-4
X-15618926-C-T p.Glu37Lys missense ACE2 7 82980 8.43577E-5 41490 2 9.11452E-5
X-15618932-C-T p.Glu35Lys missense ACE2 1 82976 1.20517E-5 41488 0 1.636E-5
X-15618933-G-A p.His34His synonymous ACE2 23 82970 2.77209E-4 41485 5 7.29694E-4
X-15618958-T-C p.Lys26Arg missense ACE2 406 82984 0.00489251 41492 105 0.00397098
X-15618973-A-G p.Ile21Thr missense ACE2 2 82926 2.41179E-5 41463 0 5.46254E-6
X-15618980-A-G p.Ser19Pro missense ACE2 17 82854 2.0518E-4 41427 3 8.24402E-4
X-15618996-A-G p.Ala13Ala synonymous ACE2 12 82722 1.45064E-4 41361 2 6.94927E-5
X-15619013-G-A p.Leu8Phe missense ACE2 6 82562 7.26727E-5 41281 1 1.36968E-4
X-15619036-G-A c.-2C>T 5_prime_UTR_premature_start_codon_gain ACE2 1 81714 1.22378E-5 40857 0 6.25E-4
X-15619063-C-T c.-29G>A 5_prime_UTR_premature_start_codon_gain ACE2 1 79574 1.25669E-5 39787 0 6.7558E-6
X-15619137-G-A c.-103C>T splice_region ACE2 1 62452 1.60123E-5 31226 0 NA
X-15619139-T-C c.-103-2A>G splice_acceptor ACE2 1 62072 1.61103E-5 31036 0 4.58295E-5
X-15619145-G-A c.-103-8C>T splice_region ACE2 2 59726 3.34863E-5 29863 0 NA