Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-12329564-C-G p.Ter798Tyrext*? stop_lost AFG3L2 1 83110 1.20322E-5 41555 0 1.03394E-4
18-12329585-C-T p.Pro791Pro synonymous AFG3L2 3 83282 3.60222E-5 41641 0 3.18492E-5
18-12329586-G-A p.Pro791Leu missense AFG3L2 4 83286 4.80273E-5 41643 0 3.29522E-5
18-12329600-C-G p.Glu786Asp missense AFG3L2 1 83328 1.20008E-5 41664 0 NA
18-12329604-T-C p.Lys785Arg missense AFG3L2 1 83334 1.19999E-5 41667 0 8.2371E-6
18-12329605-T-C p.Lys785Glu missense AFG3L2 2 83334 2.39998E-5 41667 0 3.18512E-5
18-12329610-C-T p.Arg783Gln missense AFG3L2 1 83344 1.19985E-5 41672 0 2.38578E-5
18-12329611-G-A p.Arg783Trp missense AFG3L2 2 83342 2.39975E-5 41671 0 5.03525E-4
18-12329612-C-A p.Glu782Asp missense AFG3L2 1 83342 1.19988E-5 41671 0 NA
18-12329620-T-A p.Asn780Tyr missense AFG3L2 1 83352 1.19973E-5 41676 0 3.97621E-6
18-12329636-T-C p.Glu774Glu synonymous AFG3L2 3 83362 3.59876E-5 41681 0 8.23642E-6
18-12329644-G-A p.Leu772Phe missense AFG3L2 131 83360 0.0015715 41680 0 0.00177907
18-12329644-G-T p.Leu772Ile missense AFG3L2 16 83362 1.91934E-4 41681 0 9.55292E-5
18-12329651-G-A p.Asp769Asp synonymous AFG3L2 1 83362 1.19959E-5 41681 0 NA
18-12329663-G-A p.Ser765Ser synonymous AFG3L2 2 83350 2.39952E-5 41675 0 NA
18-12329669-A-G p.Thr763Thr synonymous AFG3L2 1 83362 1.19959E-5 41681 0 NA
18-12329705-C-T p.Ala751Ala synonymous AFG3L2 3 83354 3.59911E-5 41677 0 4.11834E-5
18-12329706-G-A p.Ala751Val missense AFG3L2 5 83358 5.99822E-5 41679 0 6.36983E-5
18-12329719-G-C p.Pro747Ala missense AFG3L2 2 83350 2.39952E-5 41675 0 3.18451E-5
18-12329719-G-T p.Pro747Thr missense AFG3L2 2 83350 2.39952E-5 41675 0 NA
18-12329742-T-C p.Asn739Ser missense AFG3L2 1 83346 1.19982E-5 41673 0 NA
18-12329755-C-G p.Val735Leu missense AFG3L2 1 83318 1.20022E-5 41659 0 3.97725E-6
18-12329763-T-C p.Glu732Gly missense AFG3L2 2 83296 2.40108E-5 41648 0 3.05917E-4
18-12329772-A-C p.Leu729Arg missense AFG3L2 1 83250 1.2012E-5 41625 0 NA
18-12329773-G-C p.Leu729Val missense AFG3L2 1 83238 1.20137E-5 41619 0 2.78523E-5
18-12337336-C-G c.2175+4G>C splice_region AFG3L2 2 83146 2.40541E-5 41573 0 3.97722E-6
18-12337340-C-G p.Lys725Asn missense+splice_region AFG3L2 1 83210 1.20178E-5 41605 0 3.97722E-6
18-12337348-C-T p.Val723Met missense AFG3L2 31 83286 3.72211E-4 41643 0 1.91083E-4
18-12337349-G-A p.Asp722Asp synonymous AFG3L2 2 83288 2.40131E-5 41644 0 0.0010101
18-12337375-C-T p.Ala714Thr missense AFG3L2 8 83344 9.59877E-5 41672 0 3.18492E-5
18-12337383-C-A p.Arg711Ile missense AFG3L2 1 83346 1.19982E-5 41673 0 3.97655E-6
18-12337386-T-A p.Lys710Ile missense AFG3L2 2 83352 2.39946E-5 41676 0 9.55171E-5
18-12337397-A-T p.Asn706Lys missense AFG3L2 1 83354 1.1997E-5 41677 0 NA
18-12337429-A-G p.Leu696Leu synonymous AFG3L2 2 83366 2.39906E-5 41683 0 3.29484E-5
18-12337468-T-C p.Met683Val missense AFG3L2 1 83380 1.19933E-5 41690 0 6.36821E-5
18-12337480-G-A p.Arg679Cys missense AFG3L2 9 83370 1.07953E-4 41685 0 6.25E-4
18-12337526-C-G p.Gln663His missense AFG3L2 1 83336 1.19996E-5 41668 0 NA
18-12337531-C-A p.Val662Phe missense AFG3L2 1 83324 1.20013E-5 41662 0 NA
18-12337534-T-A p.Ile661Phe missense+splice_region AFG3L2 1 83312 1.20031E-5 41656 0 NA
18-12337542-A-G c.1981-8T>C splice_region AFG3L2 1 83270 1.20091E-5 41635 0 7.95545E-6
18-12340204-G-A p.Ala659Val missense AFG3L2 1 83218 1.20166E-5 41609 0 NA
18-12340210-G-A p.Ala657Val missense AFG3L2 2 83226 2.4031E-5 41613 0 NA
18-12340220-T-C p.Thr654Ala missense AFG3L2 2 83244 2.40258E-5 41622 0 NA
18-12340221-T-C p.Val653Val synonymous AFG3L2 2 83246 2.40252E-5 41623 0 8.2375E-6
18-12340223-C-T p.Val653Ile missense AFG3L2 1 83250 1.2012E-5 41625 0 NA
18-12340242-A-G p.Ala646Ala synonymous AFG3L2 2 83278 2.40159E-5 41639 0 3.18431E-5
18-12340247-C-T p.Gly645Ser missense AFG3L2 1 83282 1.20074E-5 41641 0 3.97716E-6
18-12340249-G-C p.Thr644Ser missense AFG3L2 2 83288 2.40131E-5 41644 0 3.18431E-5
18-12340266-G-A p.Phe638Phe synonymous AFG3L2 4 83302 4.80181E-5 41651 0 2.47109E-5
18-12340286-G-A p.Arg632* stop_gained AFG3L2 1 83326 1.20011E-5 41663 0 3.97659E-6
18-12340296-A-T p.Thr628Thr synonymous AFG3L2 1 83326 1.20011E-5 41663 0 NA
18-12340301-T-C p.Met627Val missense AFG3L2 1 83334 1.19999E-5 41667 0 NA
18-12340308-C-T p.Arg624Arg synonymous AFG3L2 1 83334 1.19999E-5 41667 0 NA
18-12340314-C-T p.Leu622Leu synonymous AFG3L2 10 83328 1.20008E-4 41664 0 7.15751E-5
18-12340322-G-T p.Gln620Lys missense AFG3L2 1 83342 1.19988E-5 41671 0 NA
18-12340328-T-C p.Lys618Glu missense AFG3L2 1 83342 1.19988E-5 41671 0 NA
18-12340329-G-A p.Thr617Thr synonymous AFG3L2 1 83336 1.19996E-5 41668 0 NA
18-12340333-T-A p.Tyr616Phe missense AFG3L2 1 83326 1.20011E-5 41663 0 NA
18-12340333-T-C p.Tyr616Cys missense AFG3L2 1 83326 1.20011E-5 41663 0 8.23655E-6
18-12340338-G-A p.Tyr614Tyr synonymous AFG3L2 1 83322 1.20016E-5 41661 0 NA
18-12340360-T-C p.Gln607Arg missense AFG3L2 4 83322 4.80065E-5 41661 0 2.47097E-5
18-12340362-A-G p.Ala606Ala synonymous AFG3L2 3 83326 3.60032E-5 41663 0 3.18451E-5
18-12340384-C-T p.Arg599His missense AFG3L2 1 83238 1.20137E-5 41619 0 7.9533E-6
18-12340385-G-A p.Arg599Cys missense AFG3L2 1 83232 1.20146E-5 41616 0 3.1835E-5
18-12340398-T-C p.Val594Val splice_region+synonymous AFG3L2 8 83150 9.62117E-5 41575 0 NA
18-12340404-G-C c.1780-4C>G splice_region AFG3L2 1 83074 1.20375E-5 41537 0 NA
18-12344140-C-A p.Pro590Pro synonymous AFG3L2 3 83218 3.60499E-5 41609 0 5.03525E-4
18-12344140-C-T p.Pro590Pro synonymous AFG3L2 1 83218 1.20166E-5 41609 0 8.24906E-6
18-12344145-C-G p.Asp589His missense AFG3L2 1 83256 1.20111E-5 41628 0 3.1837E-5
18-12344148-C-T p.Ala588Thr missense AFG3L2 2 83260 2.40211E-5 41630 0 3.9776E-5
18-12344149-G-A p.His587His synonymous AFG3L2 7 83266 8.40679E-5 41633 0 1.03408E-4
18-12344163-A-G p.Trp583Arg missense AFG3L2 1 83326 1.20011E-5 41663 0 NA
18-12344166-C-T p.Gly582Ser missense AFG3L2 1 83330 1.20005E-5 41665 0 NA
18-12344174-G-A p.Ala579Val missense AFG3L2 1 83340 1.1999E-5 41670 0 3.29663E-5
18-12344188-G-A p.His574His synonymous AFG3L2 2 83354 2.3994E-5 41677 0 6.36862E-5
18-12344194-T-C p.Ala572Ala synonymous AFG3L2 1 83346 1.19982E-5 41673 0 NA
18-12344201-GTCT-G p.Lys569del disruptive_inframe_deletion AFG3L2 1 83342 1.19988E-5 41671 0 3.97655E-6
18-12344204-T-G p.Lys569Thr missense AFG3L2 2 83336 2.39992E-5 41668 0 6.25E-4
18-12344209-C-T p.Glu567Glu synonymous AFG3L2 7 83336 8.39973E-5 41668 0 6.25E-4
18-12344230-C-T p.Thr560Thr synonymous AFG3L2 1 83292 1.2006E-5 41646 0 2.47443E-5
18-12348285-T-C p.Glu550Glu synonymous AFG3L2 62046 81976 0.75688 40988 23623 0.796576
18-12348300-A-G p.Phe545Phe synonymous AFG3L2 2 83318 2.40044E-5 41659 0 2.4715E-5
18-12348317-T-C p.Ile540Val missense AFG3L2 1 83334 1.19999E-5 41667 0 3.97684E-6
18-12348348-C-T p.Ala529Ala synonymous AFG3L2 2 83330 2.4001E-5 41665 0 6.36862E-5
18-12348367-T-C p.Asn523Ser missense AFG3L2 1 83312 1.20031E-5 41656 0 NA
18-12348389-A-G c.1553-7T>C splice_region AFG3L2 1 83214 1.20172E-5 41607 0 1.65804E-5
18-12351075-TC-T c.1552+8delG splice_region AFG3L2 1 82186 1.21675E-5 41093 0 NA
18-12351095-G-A p.Pro514Leu missense AFG3L2 1 82628 1.21024E-5 41314 0 NA
18-12351096-G-A p.Pro514Ser missense AFG3L2 2 82636 2.42025E-5 41318 0 NA
18-12351100-T-A p.Leu512Phe missense AFG3L2 1 82700 1.20919E-5 41350 0 NA
18-12351127-A-G p.Asp503Asp synonymous AFG3L2 1 83130 1.20294E-5 41565 0 NA
18-12351138-G-C p.Leu500Val missense AFG3L2 1 83272 1.20088E-5 41636 0 NA
18-12351143-C-T p.Ser498Asn missense AFG3L2 1 83318 1.20022E-5 41659 0 NA
18-12351157-C-T p.Pro493Pro synonymous AFG3L2 1 83366 1.19953E-5 41683 0 6.59141E-5
18-12351173-T-C p.Lys488Arg missense AFG3L2 1 83382 1.1993E-5 41691 0 2.78392E-5
18-12351175-G-A p.Phe487Phe synonymous AFG3L2 2 83392 2.39831E-5 41696 0 3.18796E-5
18-12351192-C-T p.Gly482Arg missense AFG3L2 1 83402 1.19901E-5 41701 0 NA
18-12351208-TCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCATCTCA-T p.Gly476fs frameshift AFG3L2 7 83404 8.39288E-5 41702 0 NA
18-12351215-G-C c.1427-6C>G splice_region AFG3L2 2 83394 2.39825E-5 41697 0 NA
18-12351316-T-C p.Gln472Arg missense AFG3L2 2 83394 2.39825E-5 41697 0 NA
18-12351330-C-A p.Gly467Gly synonymous AFG3L2 2 83386 2.39848E-5 41693 0 NA
18-12351342-C-T p.Leu463Leu synonymous AFG3L2 59805 82976 0.720751 41488 22012 0.777946
18-12351348-G-A p.Pro461Pro synonymous AFG3L2 2 83374 2.39883E-5 41687 0 6.3743E-5
18-12351357-G-A p.Ile458Ile synonymous AFG3L2 1 83380 1.19933E-5 41690 0 NA
18-12351363-T-G p.Pro456Pro synonymous AFG3L2 1 83370 1.19947E-5 41685 0 NA
18-12351386-T-C p.Ile449Val missense AFG3L2 1 83346 1.19982E-5 41673 0 NA
18-12351389-C-T p.Val448Ile missense AFG3L2 1 83332 1.20002E-5 41666 0 1.19352E-5
18-12351405-A-C p.Asn442Lys missense AFG3L2 1 83218 1.20166E-5 41609 0 NA
18-12351419-G-A c.1319-7C>T splice_region AFG3L2 25 83056 3.01002E-4 41528 0 0.00169189
18-12353005-A-G p.Asp439Asp splice_region+synonymous AFG3L2 1 83092 1.20349E-5 41546 0 3.2514E-5
18-12353035-G-A p.Asn429Asn synonymous AFG3L2 2 83338 2.39987E-5 41669 0 8.23642E-6
18-12353050-C-G p.Gln424His missense AFG3L2 1 83344 1.19985E-5 41672 0 NA
18-12353095-G-A p.Ile409Ile synonymous AFG3L2 1 83336 1.19996E-5 41668 0 2.47101E-5
18-12353106-T-C p.Ile406Val missense AFG3L2 1 83320 1.20019E-5 41660 0 NA
18-12353119-A-T p.Pro401Pro synonymous AFG3L2 1 83296 1.20054E-5 41648 0 NA
18-12353132-C-T p.Arg397Gln missense AFG3L2 1 83254 1.20114E-5 41627 0 7.95697E-6
18-12353133-G-A p.Arg397Trp missense AFG3L2 4 83248 4.80492E-5 41624 0 8.24008E-6
18-12353154-G-A p.Arg390* stop_gained AFG3L2 1 83076 1.20372E-5 41538 0 3.98042E-6
18-12353156-A-C p.Val389Gly missense+splice_region AFG3L2 1 83060 1.20395E-5 41530 0 NA
18-12353157-C-CT c.1165-1_1165insA splice_acceptor AFG3L2 2 83034 2.40865E-5 41517 1 NA
18-12356695-T-C p.Arg388Gly missense+splice_region AFG3L2 1 83262 1.20103E-5 41631 0 NA
18-12356707-C-A p.Val384Leu missense AFG3L2 2 83316 2.4005E-5 41658 0 NA
18-12356711-A-G p.Val382Val synonymous AFG3L2 5 83322 6.00082E-5 41661 0 5.03525E-4
18-12356713-C-T p.Val382Ile missense AFG3L2 1 83338 1.19993E-5 41669 0 3.97697E-6
18-12356714-G-A p.Phe381Phe synonymous AFG3L2 1 83334 1.19999E-5 41667 0 3.29468E-5
18-12356756-G-C p.Val367Val synonymous AFG3L2 1 83382 1.1993E-5 41691 0 NA
18-12356760-T-C p.Asn366Ser missense AFG3L2 1 83382 1.1993E-5 41691 0 8.2394E-6
18-12356792-C-G p.Thr355Thr synonymous AFG3L2 2 83350 2.39952E-5 41675 0 NA
18-12356792-C-T p.Thr355Thr synonymous AFG3L2 4 83350 4.79904E-5 41675 0 9.94344E-5
18-12356796-T-C p.Lys354Arg missense AFG3L2 1 83352 1.19973E-5 41676 0 NA
18-12356811-G-A p.Pro349Leu missense AFG3L2 2 83336 2.39992E-5 41668 0 8.2728E-6
18-12356817-G-C p.Thr347Ser missense AFG3L2 1 83314 1.20028E-5 41657 0 NA
18-12356821-G-A p.Leu346Phe missense AFG3L2 1 83290 1.20062E-5 41645 0 1.66176E-5
18-12356833-T-TTGGGATTTTTGCTCCTAGGTCTTGATA c.1027-4_1027-3insTATCAAGACCTAGGAGCAAAAATCCCA splice_region AFG3L2 1 83234 1.20143E-5 41617 0 NA
18-12358661-C-T c.1026+8G>A splice_region AFG3L2 2239 82948 0.0269928 41474 37 0.0268557
18-12358661-C-CTT c.1026+7_1026+8insAA splice_region AFG3L2 1 83064 1.20389E-5 41532 0 4.00676E-6
18-12358662-A-G c.1026+7T>C splice_region AFG3L2 2 83080 2.40732E-5 41540 0 4.00086E-6
18-12358672-T-C p.Pro341Pro synonymous AFG3L2 9 83182 1.08196E-4 41591 0 5.03525E-4
18-12358741-T-C p.Leu318Leu synonymous AFG3L2 1 83332 1.20002E-5 41666 0 NA
18-12358749-C-T p.Ala316Thr missense AFG3L2 1 83328 1.20008E-5 41664 0 NA
18-12358761-C-T p.Gly312Ser missense AFG3L2 1 83326 1.20011E-5 41663 0 NA
18-12358777-C-T p.Lys306Lys synonymous AFG3L2 1 83298 1.20051E-5 41649 0 3.18431E-5
18-12358780-C-T p.Val305Val synonymous AFG3L2 4 83292 4.80238E-5 41646 0 NA
18-12358781-A-G p.Val305Ala missense AFG3L2 2 83286 2.40136E-5 41643 0 NA
18-12358821-C-T p.Gly292Arg missense AFG3L2 1 83192 1.20204E-5 41596 0 1.64853E-5
18-12358822-G-A p.Val291Val synonymous AFG3L2 3 83174 3.6069E-5 41587 0 3.29701E-5
18-12358828-G-A p.Phe289Phe synonymous AFG3L2 1 83178 1.20224E-5 41589 0 3.1841E-5
18-12358836-C-T p.Gly287Arg missense AFG3L2 3 83114 3.6095E-5 41557 0 3.97959E-6
18-12358837-G-A p.Gly286Gly synonymous AFG3L2 4 83100 4.81348E-5 41550 0 3.18492E-5
18-12358848-G-T p.Arg283Arg synonymous AFG3L2 1 83032 1.20435E-5 41516 0 3.18573E-5
18-12358849-G-C p.Gly282Gly synonymous AFG3L2 1 83020 1.20453E-5 41510 0 1.64908E-5
18-12358854-T-C p.Thr281Ala missense AFG3L2 8 83018 9.63646E-5 41509 0 1.31346E-4
18-12358855-C-T p.Arg280Arg synonymous AFG3L2 1 83026 1.20444E-5 41513 0 NA
18-12358857-G-A p.Arg280Trp missense AFG3L2 8 83016 9.6367E-5 41508 0 3.98045E-5
18-12358858-G-C p.Gly279Gly synonymous AFG3L2 1 83024 1.20447E-5 41512 0 NA
18-12358884-T-C p.Ile271Val missense AFG3L2 8 82980 9.64088E-5 41490 0 3.18431E-5
18-12358886-G-T p.Thr270Asn missense AFG3L2 1 82970 1.20525E-5 41485 0 3.98153E-6
18-12358902-C-T p.Ala265Thr missense AFG3L2 23 82948 2.77282E-4 41474 0 6.25E-4
18-12358903-G-A p.Ile264Ile synonymous AFG3L2 2 82968 2.41057E-5 41484 0 0.00100705
18-12358909-G-C p.Leu262Leu synonymous AFG3L2 2 82956 2.41092E-5 41478 0 3.98991E-6
18-12358915-C-T p.Thr260Thr synonymous AFG3L2 2 82912 2.4122E-5 41456 0 4.57632E-5
18-12358923-G-C p.Leu258Val missense AFG3L2 1 82876 1.20662E-5 41438 0 NA
18-12358927-G-A p.Ser256Ser synonymous AFG3L2 1 82830 1.20729E-5 41415 0 NA
18-12358943-C-CCATCACTTTCAGCAATGTAGACAACAGGCACCCGAT c.753-2_753-1insATCGGGTGCCTGTTGTCTACATTGCTGAAAGTGATG splice_acceptor AFG3L2 2 82724 2.41768E-5 41362 1 NA
18-12359920-G-A c.752+6C>T splice_region AFG3L2 56389 79606 0.708351 39803 20346 0.717665
18-12359920-G-C c.752+6C>G splice_region AFG3L2 1 82562 1.21121E-5 41281 0 NA
18-12359928-A-G p.Asp250Asp splice_region+synonymous AFG3L2 1 82722 1.20887E-5 41361 0 NA
18-12359937-A-G p.Ala247Ala synonymous AFG3L2 1 82898 1.2063E-5 41449 0 NA
18-12359959-C-T p.Arg240Gln missense AFG3L2 1 83238 1.20137E-5 41619 0 3.18634E-5
18-12359960-G-A p.Arg240Trp missense AFG3L2 7 83252 8.40821E-5 41626 0 2.78399E-5
18-12359981-A-G p.Leu233Leu synonymous AFG3L2 1 83334 1.19999E-5 41667 0 NA
18-12359991-T-G p.Leu229Phe missense AFG3L2 1 83338 1.19993E-5 41669 0 NA
18-12359994-A-C p.Thr228Thr synonymous AFG3L2 1 83340 1.1999E-5 41670 0 8.23764E-6
18-12359999-C-A p.Glu227* stop_gained AFG3L2 1 83338 1.19993E-5 41669 0 NA
18-12360000-C-T p.Leu226Leu synonymous AFG3L2 2 83342 2.39975E-5 41671 0 1.64753E-5
18-12360006-C-T p.Arg224Arg synonymous AFG3L2 1 83346 1.19982E-5 41673 0 NA
18-12360007-C-T p.Arg224Gln missense AFG3L2 1 83340 1.1999E-5 41670 0 NA
18-12360044-C-T p.Val212Ile missense AFG3L2 4 83300 4.80192E-5 41650 0 4.95278E-5
18-12360045-G-C p.Tyr211* stop_gained AFG3L2 1 83284 1.20071E-5 41642 0 8.25668E-6
18-12360048-T-C p.Gln210Gln splice_region+synonymous AFG3L2 1 83278 1.2008E-5 41639 0 5.96834E-5
18-12360054-T-C c.628-4A>G splice_region AFG3L2 9 83252 1.08106E-4 41626 0 5.14834E-4
18-12363785-T-A p.Asp208Val missense AFG3L2 1 82222 1.21622E-5 41111 0 8.32085E-6
18-12363806-G-C p.Thr201Arg missense AFG3L2 1 82150 1.21729E-5 41075 0 NA
18-12363814-C-T p.Val198Val synonymous AFG3L2 6 82092 7.30887E-5 41046 0 5.04541E-4
18-12363817-T-C p.Arg197Arg synonymous AFG3L2 1 82076 1.21838E-5 41038 0 NA
18-12363819-G-T p.Arg197Arg synonymous AFG3L2 1 82032 1.21904E-5 41016 0 NA
18-12363827-C-T p.Arg194His missense AFG3L2 5 81824 6.11068E-5 40912 0 3.336E-5
18-12363829-C-T p.Lys193Lys synonymous AFG3L2 3 81792 3.66784E-5 40896 0 6.36902E-5
18-12363837-C-T p.Val191Ile missense AFG3L2 5 81494 6.13542E-5 40747 0 5.04541E-4
18-12366978-G-C p.Leu180Val missense AFG3L2 1 83338 1.19993E-5 41669 0 NA
18-12366980-T-C p.Tyr179Cys missense AFG3L2 5 83340 5.99952E-5 41670 0 6.37024E-5
18-12366986-T-C p.Asn177Ser missense AFG3L2 3 83344 3.59954E-5 41672 0 9.55353E-5
18-12367017-C-T p.Gly167Arg missense AFG3L2 3 83352 3.59919E-5 41676 0 3.18451E-5
18-12367018-G-A p.Ser166Ser synonymous AFG3L2 47 83352 5.63874E-4 41676 1 0.00224042
18-12367025-T-C p.Lys164Arg missense AFG3L2 1 83352 1.19973E-5 41676 0 NA
18-12367027-G-A p.Leu163Leu synonymous AFG3L2 1 83350 1.19976E-5 41675 0 3.97643E-6
18-12367032-G-C p.Leu162Val missense AFG3L2 3 83348 3.59937E-5 41674 0 NA
18-12367042-C-T p.Met158Ile missense AFG3L2 1 83350 1.19976E-5 41675 0 NA
18-12367044-T-C p.Met158Val missense AFG3L2 7 83352 8.39812E-5 41676 0 5.76559E-5
18-12367044-T-G p.Met158Leu missense AFG3L2 1 83352 1.19973E-5 41676 0 NA
18-12367052-C-A p.Gly155Val missense AFG3L2 2 83344 2.39969E-5 41672 0 2.47101E-5
18-12367060-C-A p.Leu152Leu synonymous AFG3L2 4 83348 4.79916E-5 41674 0 3.977E-6
18-12367078-G-A p.Phe146Phe synonymous AFG3L2 3 83334 3.59997E-5 41667 0 3.18532E-5
18-12367083-T-A p.Met145Leu missense AFG3L2 1 83330 1.20005E-5 41665 0 1.98844E-5
18-12367098-C-T p.Asp140Asn missense AFG3L2 1 83304 1.20042E-5 41652 0 1.64766E-5
18-12367099-G-A p.Asp139Asp synonymous AFG3L2 2 83310 2.40067E-5 41655 0 2.78421E-5
18-12367277-T-G p.Lys133Gln missense+splice_region AFG3L2 2 83360 2.39923E-5 41680 0 8.23683E-6
18-12367289-A-G p.Ser129Pro missense AFG3L2 1 83386 1.19924E-5 41693 0 NA
18-12367296-G-T p.His126Gln missense AFG3L2 1 83390 1.19918E-5 41695 0 3.97655E-6
18-12367307-C-T p.Asp123Asn missense AFG3L2 2 83396 2.3982E-5 41698 0 1.64731E-5
18-12367319-C-T p.Gly119Ser missense AFG3L2 1 83400 1.19904E-5 41700 0 NA
18-12367321-C-T p.Arg118Gln missense AFG3L2 1 83400 1.19904E-5 41700 0 5.76559E-5
18-12367322-G-A p.Arg118* stop_gained AFG3L2 2 83398 2.39814E-5 41699 0 3.97655E-6
18-12367328-C-T p.Gly116Arg missense AFG3L2 1 83394 1.19913E-5 41697 0 1.19293E-5
18-12367328-C-G p.Gly116Arg missense AFG3L2 3 83394 3.59738E-5 41697 0 7.95286E-6
18-12367330-C-T p.Gly115Asp missense AFG3L2 4 83396 4.79639E-5 41698 0 NA
18-12367332-G-A p.Gly114Gly synonymous AFG3L2 3 83396 3.59729E-5 41698 0 7.95336E-6
18-12367332-GCCA-G p.Gly114del disruptive_inframe_deletion AFG3L2 1 83396 1.1991E-5 41698 0 1.64737E-5
18-12367358-G-A p.Arg106Cys missense AFG3L2 1 83378 1.19936E-5 41689 0 8.23818E-6
18-12367374-C-G p.Lys100Asn missense AFG3L2 2 83360 2.39923E-5 41680 0 1.07119E-4
18-12367381-T-A p.Glu98Val missense+splice_region AFG3L2 1 83350 1.19976E-5 41675 0 5.03525E-4
18-12367384-G-A c.293-3C>T splice_region AFG3L2 1 83342 1.19988E-5 41671 0 3.18512E-5
18-12370840-A-G c.292+8T>C splice_region AFG3L2 1 82302 1.21504E-5 41151 0 NA
18-12370846-A-G c.292+2T>C splice_donor AFG3L2 4 82398 4.85449E-5 41199 0 1.00306E-4
18-12370848-C-G p.Glu98Gln missense+splice_region AFG3L2 1 82452 1.21283E-5 41226 0 NA
18-12370868-T-C p.Glu91Gly missense AFG3L2 4 82590 4.8432E-5 41295 0 6.37105E-5
18-12370869-C-T p.Glu91Lys missense AFG3L2 2 82618 2.42078E-5 41309 0 NA
18-12370873-A-C p.Pro89Pro synonymous AFG3L2 2 82606 2.42113E-5 41303 0 4.11123E-6
18-12370879-A-G p.Ser87Ser synonymous AFG3L2 1 82586 1.21086E-5 41293 0 8.23032E-5
18-12370885-TTTTTTTCCA-T p.Asn82_Lys84del disruptive_inframe_deletion AFG3L2 1 82540 1.21153E-5 41270 0 2.43297E-5
18-12370891-T-C p.Gly83Gly synonymous AFG3L2 1 82526 1.21174E-5 41263 0 NA
18-12370894-A-G p.Asn82Asn synonymous AFG3L2 2 82516 2.42377E-5 41258 0 NA
18-12370930-TAGAAAA-T c.215-11_215-6delTTTTCT splice_region AFG3L2 34 81236 4.18534E-4 40618 0 3.21419E-4
18-12370930-T-G c.215-5A>C splice_region AFG3L2 26 81230 3.20079E-4 40615 0 0.00291847
18-12371584-C-A c.214+7G>T splice_region AFG3L2 1 82460 1.21271E-5 41230 0 NA
18-12371591-C-T p.Gly72Arg missense+splice_region AFG3L2 1 82592 1.21077E-5 41296 0 NA
18-12371602-C-T p.Arg68Gln missense AFG3L2 1 82826 1.20735E-5 41413 0 1.65412E-5
18-12371603-G-A p.Arg68* stop_gained AFG3L2 1 82886 1.20648E-5 41443 0 2.48127E-5
18-12371632-A-G p.Ile58Thr missense AFG3L2 1 83148 1.20267E-5 41574 0 3.57987E-5
18-12371638-G-A p.Thr56Ile missense AFG3L2 1 83186 1.20213E-5 41593 0 NA
18-12371641-A-G p.Leu55Ser missense AFG3L2 1 83202 1.20189E-5 41601 0 NA
18-12371667-T-C p.Gln46Gln synonymous AFG3L2 1 83192 1.20204E-5 41596 0 NA
18-12371671-G-C p.Thr45Ser missense AFG3L2 1 83174 1.2023E-5 41587 0 3.98013E-6
18-12371671-G-A p.Thr45Ile missense AFG3L2 2 83174 2.4046E-5 41587 0 1.67274E-5
18-12371684-G-A p.Arg41* stop_gained AFG3L2 2 83132 2.40581E-5 41566 0 3.58583E-5
18-12371691-C-CG c.115-2_115-1insC splice_acceptor AFG3L2 1 83090 1.20351E-5 41545 0 NA
18-12371691-C-G c.115-1G>C splice_acceptor AFG3L2 1 83090 1.20351E-5 41545 0 NA
18-12371694-C-T c.115-4G>A splice_region AFG3L2 6 83076 7.2223E-5 41538 0 1.76766E-5
18-12376962-A-T c.114+6T>A splice_region AFG3L2 1 36586 2.73329E-5 18293 0 NA
18-12376983-C-A p.Gln33His missense AFG3L2 3 36978 8.11293E-5 18489 0 2.23986E-4
18-12376984-T-G p.Gln33Pro missense AFG3L2 24 36962 6.49316E-4 18481 0 0.001856
18-12376993-G-A p.Pro30Leu missense AFG3L2 1 36976 2.70446E-5 18488 0 NA
18-12377010-C-T p.Val24Val synonymous AFG3L2 1 37074 2.69731E-5 18537 0 3.32447E-4
18-12377012-C-A p.Val24Leu missense AFG3L2 1 37008 2.70212E-5 18504 0 1.28241E-5
18-12377027-G-A p.Leu19Leu synonymous AFG3L2 1 36972 2.70475E-5 18486 0 6.41766E-5
18-12377051-G-C p.Arg11Gly missense AFG3L2 1 36214 2.76136E-5 18107 0 1.41223E-5
18-12377053-C-T p.Gly10Asp missense AFG3L2 1 36238 2.75953E-5 18119 0 NA
18-12377068-C-T p.Cys5Tyr missense AFG3L2 1 36224 2.7606E-5 18112 0 NA
18-12377070-GC-AT p.Arg4His missense AFG3L2 2 36234 5.51968E-5 18117 0 NA
18-12377073-G-C p.His3Gln missense AFG3L2 1 36184 2.76365E-5 18092 0 3.21937E-5
18-12377092-G-A c.-11C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 1 35684 2.80238E-5 17842 0 3.21999E-5
18-12377126-G-A c.-45C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 1 34680 2.88351E-5 17340 0 NA
18-12377163-G-A c.-82C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 1 33314 3.00174E-5 16657 0 1.57878E-4
18-12377183-G-A c.-102C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 1 31372 3.18756E-5 15686 0 2.92261E-5
18-12377199-G-A c.-118C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 1 29338 3.40855E-5 14669 0 NA
18-12377209-G-A c.-128C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 1 28282 3.53582E-5 14141 0 NA
18-12377220-A-G c.-139T>C 5_prime_UTR_premature_start_codon_gain AFG3L2 2 26140 7.65111E-5 13070 0 2.24057E-4
18-12377232-G-A c.-151C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 2 23910 8.3647E-5 11955 0 5.43652E-4
18-12377241-T-A c.-160A>T 5_prime_UTR_premature_start_codon_gain AFG3L2 1 21684 4.6117E-5 10842 0 NA
18-12377276-G-A c.-195C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 2 17414 1.1485E-4 8707 0 1.54636E-5
18-12377287-G-C c.-206C>G 5_prime_UTR_premature_start_codon_gain AFG3L2 3 16462 1.82238E-4 8231 0 NA
18-12377310-G-A c.-229C>T 5_prime_UTR_premature_start_codon_gain AFG3L2 15 14050 0.00106762 7025 0 0.0013074