Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-80626219-T-C p.Thr554Thr synonymous ACOT12 329 82646 0.00398083 41323 0 0.009375
5-80626219-T-G p.Thr554Thr synonymous ACOT12 2 82662 2.41949E-5 41331 0 NA
5-80626220-G-A p.Thr554Ile missense ACOT12 5 82674 6.04785E-5 41337 0 2.48472E-5
5-80626231-C-T p.Gly550Gly synonymous ACOT12 2 82810 2.41517E-5 41405 0 4.01007E-6
5-80626236-C-T p.Asp549Asn missense ACOT12 2 82872 2.41336E-5 41436 0 3.18492E-5
5-80626243-A-T p.Pro546Pro synonymous ACOT12 2 82950 2.41109E-5 41475 0 NA
5-80626251-C-T p.Glu544Lys missense ACOT12 1 83018 1.20456E-5 41509 0 NA
5-80626271-G-C p.Ala537Gly missense ACOT12 1 83108 1.20325E-5 41554 0 2.38779E-5
5-80626272-C-G p.Ala537Pro missense ACOT12 1 83110 1.20322E-5 41555 0 3.18451E-5
5-80626280-T-C p.Glu534Gly missense ACOT12 1 83114 1.20317E-5 41557 0 1.19393E-5
5-80626284-C-T p.Glu533Lys missense ACOT12 1 83108 1.20325E-5 41554 0 3.9795E-6
5-80626286-A-G p.Ile532Thr missense ACOT12 2 83098 2.4068E-5 41549 0 6.76482E-5
5-80626298-C-G p.Trp528Ser missense ACOT12 1 83094 1.20346E-5 41547 0 NA
5-80626318-A-G p.Phe521Phe synonymous ACOT12 2 83068 2.40767E-5 41534 0 4.94813E-5
5-80626328-A-G p.Leu518Pro missense ACOT12 1 83058 1.20398E-5 41529 0 1.65E-5
5-80626330-G-A p.Ile517Ile synonymous ACOT12 1 83050 1.20409E-5 41525 0 8.25328E-6
5-80626334-C-G p.Ser516Thr missense ACOT12 333 83044 0.00400992 41522 1 0.00805639
5-80626336-A-C p.Ala515Ala synonymous ACOT12 1 83036 1.2043E-5 41518 0 NA
5-80626352-A-G p.Phe510Ser missense ACOT12 1 83022 1.2045E-5 41511 0 9.55171E-5
5-80626356-A-G p.Tyr509His missense ACOT12 1 82986 1.20502E-5 41493 0 NA
5-80626357-A-G p.Ser508Ser synonymous ACOT12 1 82994 1.20491E-5 41497 0 8.30068E-6
5-80626631-A-ACT c.1518+1_1518+2insAG splice_donor ACOT12 2 83178 2.40448E-5 41589 0 3.99639E-6
5-80626632-C-T c.1518+1G>A splice_donor ACOT12 1 83178 1.20224E-5 41589 0 3.59842E-5
5-80626641-A-G p.Ser504Pro missense ACOT12 2 83214 2.40344E-5 41607 0 NA
5-80626642-AT-A p.Asn503fs frameshift ACOT12 1 83222 1.20161E-5 41611 0 NA
5-80626648-G-A p.Asp501Asp synonymous ACOT12 2 83236 2.40281E-5 41618 0 8.26829E-6
5-80626671-C-T p.Gly494Arg missense ACOT12 5 83256 6.00557E-5 41628 0 6.60829E-5
5-80626671-C-G p.Gly494Arg missense ACOT12 1 83256 1.20111E-5 41628 0 NA
5-80626672-G-C p.Ala493Ala synonymous ACOT12 1 83258 1.20109E-5 41629 0 1.35365E-4
5-80626673-G-A p.Ala493Val missense ACOT12 1 83260 1.20106E-5 41630 0 NA
5-80626680-T-C p.Ile491Val missense ACOT12 1 83288 1.20065E-5 41644 0 3.1841E-5
5-80626695-T-C p.Ile486Val missense ACOT12 5 83314 6.00139E-5 41657 0 1.59155E-4
5-80626697-T-G p.Tyr485Ser missense ACOT12 1 83304 1.20042E-5 41652 0 3.98099E-6
5-80626701-G-T p.Gln484Lys missense ACOT12 1 83306 1.20039E-5 41653 0 NA
5-80626703-G-A p.Pro483Leu missense ACOT12 1 83312 1.20031E-5 41656 0 5.03525E-4
5-80626708-C-T p.Pro481Pro synonymous ACOT12 15 83300 1.80072E-4 41650 0 0.00125
5-80626709-G-A p.Pro481Leu missense ACOT12 4 83304 4.80169E-5 41652 0 4.14113E-5
5-80626709-G-T p.Pro481Gln missense ACOT12 1 83304 1.20042E-5 41652 0 NA
5-80626710-G-T p.Pro481Thr missense ACOT12 1 83302 1.20045E-5 41651 0 8.28185E-6
5-80626714-GA-AT p.Val479Asp missense ACOT12 14 83284 1.681E-4 41642 0 NA
5-80626714-G-A p.Val479Val synonymous ACOT12 1 83284 1.20071E-5 41642 0 3.1839E-5
5-80626714-G-C p.Val479Val synonymous ACOT12 1 83284 1.20071E-5 41642 0 NA
5-80626715-A-T p.Val479Asp missense ACOT12 1 83282 1.20074E-5 41641 0 3.1835E-5
5-80626716-C-G p.Val479Leu missense ACOT12 2 83278 2.40159E-5 41639 0 1.65772E-5
5-80626717-C-T p.Ser478Ser synonymous ACOT12 11 83268 1.32104E-4 41634 0 4.97537E-5
5-80626720-T-A p.Pro477Pro synonymous ACOT12 1 83282 1.20074E-5 41641 0 6.36699E-5
5-80626720-T-C p.Pro477Pro synonymous ACOT12 1 83282 1.20074E-5 41641 0 5.81048E-5
5-80626730-A-C p.Val474Gly missense ACOT12 1 83280 1.20077E-5 41640 0 NA
5-80626732-C-T p.Ser473Ser synonymous ACOT12 3 83272 3.60265E-5 41636 0 1.00266E-4
5-80626733-G-A p.Ser473Leu missense ACOT12 22 83272 2.64194E-4 41636 0 3.18593E-4
5-80626744-C-T p.Val469Val synonymous ACOT12 2 83254 2.40229E-5 41627 0 3.18451E-5
5-80626745-A-G p.Val469Ala missense ACOT12 1 83266 1.20097E-5 41633 0 NA
5-80626751-T-G p.Tyr467Ser missense ACOT12 1 83254 1.20114E-5 41627 0 NA
5-80626757-T-C p.Asn465Ser missense+splice_region ACOT12 1 82930 1.20584E-5 41465 0 NA
5-80628297-C-T p.Gly464Ser missense+splice_region ACOT12 6 83220 7.20981E-5 41610 0 6.3678E-5
5-80628302-T-C p.Lys462Arg missense ACOT12 2 83224 2.40315E-5 41612 0 8.24443E-6
5-80628308-G-A p.Pro460Leu missense ACOT12 1 83228 1.20152E-5 41614 0 NA
5-80628311-T-C p.Lys459Arg missense ACOT12 1 83228 1.20152E-5 41614 0 3.1841E-5
5-80628313-T-A p.Arg458Ser missense ACOT12 1 83232 1.20146E-5 41616 0 NA
5-80628317-C-T p.Arg457Gln missense ACOT12 2 83228 2.40304E-5 41614 0 3.18512E-5
5-80628318-G-A p.Arg457* stop_gained ACOT12 5 83224 6.00788E-5 41612 0 7.41754E-5
5-80628320-G-A p.Ser456Leu missense ACOT12 1 83232 1.20146E-5 41616 0 1.64832E-5
5-80628322-T-C p.Val455Val synonymous ACOT12 1 83228 1.20152E-5 41614 0 6.36862E-5
5-80628325-G-A p.Leu454Leu synonymous ACOT12 3 83222 3.60482E-5 41611 0 3.18552E-5
5-80628330-C-A p.Val453Leu missense ACOT12 1 83224 1.20158E-5 41612 0 8.24035E-6
5-80628336-A-G p.Leu451Leu synonymous ACOT12 1 83224 1.20158E-5 41612 0 NA
5-80628340-T-C p.Lys449Lys synonymous ACOT12 1 83218 1.20166E-5 41609 0 NA
5-80628343-G-C p.Pro448Pro synonymous ACOT12 1 83220 1.20163E-5 41610 0 NA
5-80628345-G-GT p.Pro448fs frameshift ACOT12 1 83214 1.20172E-5 41607 0 3.97788E-6
5-80628345-G-A p.Pro448Ser missense ACOT12 1 83214 1.20172E-5 41607 0 NA
5-80628348-T-G p.Lys447Gln missense ACOT12 52 83204 6.2497E-4 41602 0 6.0498E-4
5-80628352-A-G p.Asp445Asp synonymous ACOT12 1 83188 1.2021E-5 41594 0 NA
5-80628358-C-G p.Leu443Leu synonymous ACOT12 1 83194 1.20201E-5 41597 0 NA
5-80628359-A-T p.Leu443Gln missense ACOT12 1 83198 1.20195E-5 41599 0 NA
5-80628367-A-G p.Cys440Cys synonymous ACOT12 2 83172 2.40466E-5 41586 0 3.18552E-5
5-80628373-G-A p.Ile438Ile synonymous ACOT12 1 83166 1.20241E-5 41583 0 3.1841E-5
5-80628375-T-C p.Ile438Val missense ACOT12 2 83162 2.40494E-5 41581 0 3.1841E-5
5-80628378-G-A p.His437Tyr missense ACOT12 2 83156 2.40512E-5 41578 0 1.27389E-4
5-80628385-C-T p.Gln434Gln synonymous ACOT12 1 83124 1.20302E-5 41562 0 NA
5-80628390-C-T p.Asp433Asn missense ACOT12 1 83118 1.20311E-5 41559 0 6.37024E-5
5-80628398-C-G p.Ser430Thr missense ACOT12 1 83104 1.20331E-5 41552 0 8.24362E-6
5-80628399-T-C p.Ser430Gly missense ACOT12 44 83100 5.29483E-4 41550 0 0.00105096
5-80628401-A-C p.Val429Gly missense ACOT12 1 83090 1.20351E-5 41545 0 NA
5-80628406-G-A p.Asp427Asp synonymous ACOT12 1 83088 1.20354E-5 41544 0 1.64894E-5
5-80628412-G-T p.Val425Val synonymous ACOT12 8 83068 9.63066E-5 41534 0 6.37105E-5
5-80628424-C-T p.Val421Val splice_region+synonymous ACOT12 1 83052 1.20406E-5 41526 0 6.3678E-5
5-80628427-G-A c.1263-3C>T splice_region ACOT12 3 83050 3.61228E-5 41525 0 NA
5-80628428-T-C c.1263-4A>G splice_region ACOT12 1 83032 1.20435E-5 41516 0 NA
5-80628429-G-A c.1263-5C>T splice_region ACOT12 2 83026 2.40888E-5 41513 0 NA
5-80628432-T-C c.1263-8A>G splice_region ACOT12 1 83024 1.20447E-5 41512 0 NA
5-80631595-G-C p.Pro418Pro synonymous ACOT12 2 83308 2.40073E-5 41654 0 1.91107E-4
5-80631600-C-T p.Asp417Asn missense ACOT12 1 83296 1.20054E-5 41648 0 NA
5-80631609-G-T p.Pro414Thr missense ACOT12 1 83326 1.20011E-5 41663 0 1.60801E-5
5-80631611-C-T p.Arg413Gln missense ACOT12 7 83320 8.40134E-5 41660 0 5.03525E-4
5-80631612-G-A p.Arg413* stop_gained ACOT12 4 83322 4.80065E-5 41661 0 2.47198E-5
5-80631613-C-T p.Lys412Lys synonymous ACOT12 1 83330 1.20005E-5 41665 0 3.18451E-5
5-80631622-G-A p.Asp409Asp synonymous ACOT12 1 83334 1.19999E-5 41667 0 7.9839E-6
5-80631627-A-T p.Ser408Thr missense ACOT12 2 83346 2.39964E-5 41673 0 8.23886E-6
5-80631631-G-A p.Leu406Leu synonymous ACOT12 1 83336 1.19996E-5 41668 0 3.1835E-5
5-80631632-A-G p.Leu406Pro missense ACOT12 2 83338 2.39987E-5 41669 1 NA
5-80631634-A-C p.Arg405Arg synonymous ACOT12 1 83344 1.19985E-5 41672 0 8.23873E-6
5-80631635-C-T p.Arg405His missense ACOT12 6 83340 7.19942E-5 41670 0 9.55353E-5
5-80631636-G-T p.Arg405Ser missense ACOT12 3 83340 3.59971E-5 41670 0 NA
5-80631641-G-A p.Ala403Val missense ACOT12 2 83352 2.39946E-5 41676 0 7.95507E-6
5-80631642-C-T p.Ala403Thr missense ACOT12 13285 83020 0.160022 41510 1110 0.20997
5-80631645-A-G p.Leu402Leu synonymous ACOT12 3 83346 3.59945E-5 41673 0 1.19318E-4
5-80631653-G-A p.Pro399Leu missense ACOT12 1 83348 1.19979E-5 41674 0 NA
5-80631662-A-G p.Val396Ala missense ACOT12 1 83338 1.19993E-5 41669 0 3.97709E-6
5-80631663-C-T p.Val396Met missense ACOT12 1 83336 1.19996E-5 41668 0 4.77266E-5
5-80631664-G-A p.His395His synonymous ACOT12 54 83336 6.47979E-4 41668 0 0.001875
5-80638489-A-G c.1128+2T>C splice_donor ACOT12 2 83394 2.39825E-5 41697 0 NA
5-80638502-T-C p.Thr373Ala missense ACOT12 1 83400 1.19904E-5 41700 0 3.18512E-5
5-80638510-A-T p.Val370Asp missense ACOT12 2 83398 2.39814E-5 41699 0 3.97643E-6
5-80638510-A-C p.Val370Gly missense ACOT12 1 83398 1.19907E-5 41699 0 1.98821E-5
5-80638514-C-A p.Glu369* stop_gained ACOT12 1 83402 1.19901E-5 41701 0 NA
5-80638523-T-A p.Arg366Trp missense ACOT12 9 83408 1.07903E-4 41704 0 7.41278E-5
5-80638526-T-C p.Lys365Glu missense ACOT12 2 83410 2.39779E-5 41705 0 NA
5-80638527-G-A p.Ala364Ala synonymous ACOT12 1 83410 1.1989E-5 41705 0 NA
5-80638536-T-G p.Lys361Asn missense ACOT12 1 83408 1.19893E-5 41704 0 6.37308E-5
5-80638539-T-C p.Lys360Lys synonymous ACOT12 1 83410 1.1989E-5 41705 0 NA
5-80638551-C-T p.Val356Val synonymous ACOT12 4 83406 4.79582E-5 41703 0 6.37105E-5
5-80638567-A-G p.Leu351Pro missense ACOT12 1 83388 1.19921E-5 41694 0 NA
5-80639639-G-T p.Gln348Lys missense+splice_region ACOT12 2 83010 2.40935E-5 41505 0 4.01936E-6
5-80639640-C-A p.Lys347Asn missense ACOT12 1 83022 1.2045E-5 41511 0 NA
5-80639656-T-G p.His342Pro missense ACOT12 5 83008 6.02352E-5 41504 0 9.89087E-5
5-80639659-A-G p.Ile341Thr missense ACOT12 1 83022 1.2045E-5 41511 0 5.03525E-4
5-80639660-T-C p.Ile341Val missense ACOT12 49 83006 5.90319E-4 41503 0 7.32251E-4
5-80639662-C-T p.Cys340Tyr missense ACOT12 1 83034 1.20433E-5 41517 0 NA
5-80639678-C-A p.Glu335* stop_gained ACOT12 16 82954 1.92878E-4 41477 0 2.23001E-4
5-80639683-T-C p.His333Arg missense ACOT12 1 82876 1.20662E-5 41438 0 NA
5-80639697-T-C p.Lys328Lys synonymous ACOT12 1 82664 1.20972E-5 41332 0 8.30523E-6
5-80639704-GA-G c.981-5delT splice_region ACOT12 6 82596 7.26427E-5 41298 0 4.24301E-4
5-80639982-C-T p.Gly326Asp missense ACOT12 1 83070 1.2038E-5 41535 0 NA
5-80639988-C-T p.Arg324His missense ACOT12 4 83058 4.81591E-5 41529 0 3.97934E-5
5-80639989-G-A p.Arg324Cys missense ACOT12 1 83096 1.20343E-5 41548 0 1.59176E-5
5-80639994-C-T p.Arg322Gln missense ACOT12 1 83070 1.2038E-5 41535 0 3.18329E-5
5-80639995-G-A p.Arg322* stop_gained ACOT12 2 83094 2.40691E-5 41547 0 1.64973E-5
5-80640000-C-T p.Arg320His missense ACOT12 14 83092 1.68488E-4 41546 0 5.60945E-4
5-80640001-G-A p.Arg320Cys missense ACOT12 7 83098 8.42379E-5 41549 0 9.55353E-5
5-80640003-G-A p.Ala319Val missense ACOT12 3 83114 3.6095E-5 41557 0 NA
5-80640015-C-T p.Arg315Gln missense ACOT12 2 83092 2.40697E-5 41546 0 6.76746E-5
5-80640016-G-A p.Arg315Trp missense ACOT12 2 83112 2.40639E-5 41556 0 8.25709E-6
5-80640019-A-C p.Tyr314Asp missense ACOT12 1 83094 1.20346E-5 41547 0 5.17854E-5
5-80640022-G-A p.Arg313Cys missense ACOT12 5 83058 6.01989E-5 41529 0 3.1841E-5
5-80640710-CT-C p.Lys308fs frameshift ACOT12 2 83390 2.39837E-5 41695 0 NA
5-80640720-G-T p.Pro305His missense ACOT12 1 83392 1.19916E-5 41696 0 NA
5-80640722-T-C p.Gln304Gln synonymous ACOT12 1 83394 1.19913E-5 41697 0 NA
5-80640733-G-A p.Pro301Ser missense ACOT12 1 83396 1.1991E-5 41698 0 7.95286E-6
5-80640737-C-G p.Thr299Thr synonymous ACOT12 8 83394 9.59302E-5 41697 0 3.97649E-6
5-80640737-C-T p.Thr299Thr synonymous ACOT12 4 83394 4.79651E-5 41697 0 6.37267E-5
5-80640743-G-A p.Leu297Leu synonymous ACOT12 1 83394 1.19913E-5 41697 0 3.97636E-6
5-80640747-T-C p.Asn296Ser missense ACOT12 2 83394 2.39825E-5 41697 0 NA
5-80640769-T-C p.Asn289Asp missense ACOT12 2 83396 2.3982E-5 41698 0 1.19292E-5
5-80640793-T-C p.Ile281Val missense ACOT12 1 83390 1.19918E-5 41695 0 1.91095E-4
5-80640798-C-T p.Arg279His missense ACOT12 5 83380 5.99664E-5 41690 0 9.88435E-5
5-80640799-G-A p.Arg279Cys missense ACOT12 2 83380 2.39866E-5 41690 0 2.47133E-5
5-80640804-C-T p.Arg277Gln missense ACOT12 5 83384 5.99635E-5 41692 0 6.37105E-5
5-80640805-G-A p.Arg277* stop_gained ACOT12 3 83380 3.59799E-5 41690 0 1.59066E-5
5-80640806-G-T p.Gly276Gly synonymous ACOT12 1 83380 1.19933E-5 41690 0 NA
5-80640807-C-A p.Gly276Val missense ACOT12 1 83368 1.1995E-5 41684 0 NA
5-80640811-C-T p.Glu275Lys missense ACOT12 1 83370 1.19947E-5 41685 0 1.81243E-4
5-80640811-C-G p.Glu275Gln missense ACOT12 1 83370 1.19947E-5 41685 0 3.18451E-5
5-80640812-G-A p.Ala274Ala synonymous ACOT12 250 83364 0.0029989 41682 3 0.00688337
5-80640813-G-C p.Ala274Gly missense ACOT12 2 83370 2.39894E-5 41685 0 3.18593E-5
5-80640818-TTCCTGACAGTCAAAG-T p.Phe268_Glu272del disruptive_inframe_deletion ACOT12 10 83364 1.19956E-4 41682 0 5.96488E-5
5-80640821-C-T p.Gln271Gln synonymous ACOT12 1 83366 1.19953E-5 41683 0 8.239E-6
5-80640841-C-T p.Val265Met missense ACOT12 2 83320 2.40038E-5 41660 0 3.58009E-5
5-80640842-G-A p.Arg264Arg synonymous ACOT12 11 83308 1.3204E-4 41654 0 5.03525E-4
5-80640843-C-T p.Arg264His missense ACOT12 5 83308 6.00182E-5 41654 0 2.62567E-4
5-80640843-C-G p.Arg264Pro missense ACOT12 2 83308 2.40073E-5 41654 0 NA
5-80640844-G-A p.Arg264Cys missense ACOT12 167 83300 0.0020048 41650 1 0.00159536
5-80640851-A-C p.Val261Val synonymous ACOT12 1 83296 1.20054E-5 41648 0 NA
5-80640852-A-G p.Val261Ala missense ACOT12 2 83294 2.40113E-5 41647 0 3.58101E-5
5-80640855-T-G p.Glu260Ala missense ACOT12 2 83258 2.40217E-5 41629 0 NA
5-80641696-C-A c.773+8G>T splice_region ACOT12 1 83306 1.20039E-5 41653 0 NA
5-80641701-T-C c.773+3A>G splice_region ACOT12 1 83304 1.20042E-5 41652 0 8.24334E-6
5-80641713-A-G p.Phe255Ser missense ACOT12 6 83322 7.20098E-5 41661 0 NA
5-80641721-G-A p.Asn252Asn synonymous ACOT12 1 83326 1.20011E-5 41663 0 1.64807E-5
5-80641746-C-G p.Arg244Pro missense ACOT12 5 83320 6.00096E-5 41660 0 7.41632E-5
5-80641746-C-T p.Arg244His missense ACOT12 1 83320 1.20019E-5 41660 0 1.193E-5
5-80641747-G-C p.Arg244Gly missense ACOT12 1 83312 1.20031E-5 41656 0 8.24063E-6
5-80641754-A-G p.Val241Val synonymous ACOT12 2 83314 2.40056E-5 41657 0 NA
5-80641761-G-C p.Ser239Cys missense ACOT12 1 83328 1.20008E-5 41664 0 NA
5-80641767-C-T p.Gly237Glu missense ACOT12 2 83326 2.40021E-5 41663 0 3.18593E-5
5-80641770-C-T p.Arg236Gln missense ACOT12 4 83322 4.80065E-5 41661 0 6.25E-4
5-80641782-A-G p.Met232Thr missense ACOT12 2 83322 2.40033E-5 41661 0 3.62611E-4
5-80641785-T-C p.Asp231Gly missense ACOT12 2 83314 2.40056E-5 41657 0 NA
5-80641789-C-T p.Val230Ile missense ACOT12 2170 83286 0.0260548 41643 39 0.029375
5-80641797-A-G p.Leu227Pro missense ACOT12 2 83312 2.40061E-5 41656 0 NA
5-80641808-A-G p.Ala223Ala synonymous ACOT12 1 83310 1.20034E-5 41655 0 NA
5-80641810-C-T p.Ala223Thr missense ACOT12 2 83298 2.40102E-5 41649 0 1.98918E-5
5-80641822-G-T p.Arg219Ser missense+splice_region ACOT12 2 83284 2.40142E-5 41642 0 NA
5-80641822-G-A p.Arg219Cys missense+splice_region ACOT12 1 83284 1.20071E-5 41642 0 1.19506E-5
5-80641823-G-T p.Ser218Arg missense+splice_region ACOT12 1 83278 1.2008E-5 41639 0 NA
5-80641825-T-G c.654-2A>C splice_acceptor ACOT12 2 83278 2.40159E-5 41639 0 3.18552E-5
5-80643587-A-T c.653+6T>A splice_region ACOT12 1 83324 1.20013E-5 41662 0 2.41647E-4
5-80643592-C-A c.653+1G>T splice_donor ACOT12 1 83332 1.20002E-5 41666 0 NA
5-80643613-T-C p.Thr211Thr synonymous ACOT12 1 83358 1.19964E-5 41679 0 8.25028E-6
5-80643622-C-G p.Trp208Cys missense ACOT12 2 83366 2.39906E-5 41683 0 NA
5-80643625-C-G p.Ala207Ala synonymous ACOT12 18 83366 2.15915E-4 41683 0 5.09424E-4
5-80643625-C-T p.Ala207Ala synonymous ACOT12 3 83366 3.59859E-5 41683 0 1.07141E-4
5-80643637-G-A p.Gly203Gly synonymous ACOT12 14 83358 1.6795E-4 41679 0 2.86533E-4
5-80643637-GC-G p.Gly203fs frameshift ACOT12 1 83358 1.19964E-5 41679 0 NA
5-80643640-A-AC p.Gly203fs frameshift ACOT12 1 83354 1.1997E-5 41677 0 NA
5-80643655-G-A p.His197His synonymous ACOT12 4 83356 4.79869E-5 41678 0 6.25E-4
5-80643661-GT-G p.Asn195fs frameshift ACOT12 1 83352 1.19973E-5 41676 0 NA
5-80643667-A-C p.His193Gln missense ACOT12 3 83358 3.59893E-5 41679 0 NA
5-80643668-T-TG p.His193fs frameshift ACOT12 1 83364 1.19956E-5 41682 0 NA
5-80643671-G-T p.Pro192His missense ACOT12 8 83364 9.59647E-5 41682 0 5.56846E-5
5-80643678-G-C p.Leu190Val missense ACOT12 1 83354 1.1997E-5 41677 0 NA
5-80643680-A-G p.Val189Ala missense ACOT12 2 83356 2.39935E-5 41678 0 9.55475E-5
5-80643695-T-C p.Gln184Arg missense ACOT12 5 83352 5.99866E-5 41676 0 3.1837E-5
5-80643699-C-T p.Val183Ile missense ACOT12 4 83356 4.79869E-5 41678 0 5.76606E-5
5-80643700-G-A p.Ser182Ser synonymous ACOT12 1 83360 1.19962E-5 41680 0 8.7611E-5
5-80643700-G-C p.Ser182Ser synonymous ACOT12 3 83360 3.59885E-5 41680 0 1.99116E-5
5-80643721-C-T p.Ala175Ala synonymous ACOT12 2 83326 2.40021E-5 41663 0 4.94788E-5
5-80643722-G-A p.Ala175Val missense ACOT12 6 83316 7.2015E-5 41658 0 1.64959E-5
5-80643749-T-C p.Asp166Gly missense+splice_region ACOT12 3 83256 3.60334E-5 41628 0 NA
5-80643755-A-G c.497-6T>C splice_region ACOT12 1 83236 1.2014E-5 41618 0 NA
5-80655722-C-T p.Asp166Asn missense+splice_region ACOT12 2 83178 2.40448E-5 41589 0 3.1839E-5
5-80655725-C-A p.Asp165Tyr missense ACOT12 1 83184 1.20215E-5 41592 0 NA
5-80655739-T-C p.Glu160Gly missense ACOT12 1 83190 1.20207E-5 41595 0 NA
5-80655740-C-T p.Glu160Lys missense ACOT12 2 83190 2.40414E-5 41595 0 NA
5-80655741-C-T p.Lys159Lys synonymous ACOT12 78 83190 9.37613E-4 41595 0 0.0010826
5-80655744-C-T p.Met158Ile missense ACOT12 2 83194 2.40402E-5 41597 0 NA
5-80655753-G-T p.Asn155Lys missense ACOT12 1 83198 1.20195E-5 41599 0 NA
5-80655760-G-A p.Thr153Ile missense ACOT12 1 83208 1.20181E-5 41604 0 NA
5-80655766-T-G p.Glu151Ala missense ACOT12 154 83224 0.00185043 41612 2 0.00340591
5-80655778-C-T p.Arg147Gln missense ACOT12 1 83184 1.20215E-5 41592 0 1.65117E-5
5-80655779-G-A p.Arg147* stop_gained ACOT12 5 83176 6.01135E-5 41588 0 0.00352467
5-80655785-T-C p.Lys145Glu missense ACOT12 1 83176 1.20227E-5 41588 0 NA
5-80655798-AG-A p.Ala140fs frameshift ACOT12 3 83154 3.60776E-5 41577 0 3.3E-5
5-80655815-C-T p.Val135Met missense ACOT12 1 83122 1.20305E-5 41561 0 5.60206E-5
5-80655817-T-C p.His134Arg missense ACOT12 1 83120 1.20308E-5 41560 0 8.25028E-6
5-80655821-C-T p.Asp133Asn missense ACOT12 2 83102 2.40668E-5 41551 0 4.014E-6
5-80655822-T-G p.Gln132His missense ACOT12 1 83110 1.20322E-5 41555 0 NA
5-80655829-G-T p.Thr130Asn missense ACOT12 1 83074 1.20375E-5 41537 0 1.65033E-5
5-80659608-T-C p.Lys120Arg missense+splice_region ACOT12 1 82502 1.21209E-5 41251 0 4.06131E-6
5-80659612-C-T p.Glu119Lys missense ACOT12 1 82544 1.21148E-5 41272 0 NA
5-80659624-G-A p.Pro115Ser missense ACOT12 2 82684 2.41885E-5 41342 0 NA
5-80659635-A-G p.Phe111Ser missense ACOT12 3 82800 3.62319E-5 41400 0 9.5511E-5
5-80659647-G-A p.Ala107Val missense ACOT12 1 82834 1.20723E-5 41417 0 4.12507E-5
5-80659651-C-T p.Val106Met missense ACOT12 3 82842 3.62135E-5 41421 0 NA
5-80659664-C-T p.Glu101Glu synonymous ACOT12 37 82836 4.46666E-4 41418 0 0.00151057
5-80659688-T-C p.Val93Val synonymous ACOT12 7 82618 8.47273E-5 41309 0 6.36902E-5
5-80659694-G-A p.Val91Val synonymous ACOT12 1 82524 1.21177E-5 41262 0 NA
5-80667561-C-T c.258+8G>A splice_region ACOT12 1 83050 1.20409E-5 41525 0 3.18492E-5
5-80667576-C-A p.Ser84Ile missense ACOT12 4 83126 4.81197E-5 41563 0 4.11936E-5
5-80667581-G-A p.Ser82Ser synonymous ACOT12 32 83140 3.84893E-4 41570 0 6.05173E-4
5-80667591-C-T p.Arg79Lys missense ACOT12 1 83140 1.20279E-5 41570 0 6.37186E-5
5-80667595-T-C p.Thr78Ala missense ACOT12 2 83138 2.40564E-5 41569 0 NA
5-80667601-T-A p.Lys76* stop_gained ACOT12 4 83136 4.81139E-5 41568 0 NA
5-80667635-G-T c.198-6C>A splice_region ACOT12 3 82902 3.61873E-5 41451 0 8.24375E-6
5-80681575-C-G c.197+1G>C splice_donor ACOT12 1 83080 1.20366E-5 41540 0 3.18532E-5
5-80681578-A-T p.Ala65Ala splice_region+synonymous ACOT12 4 83078 4.81475E-5 41539 0 1.07248E-4
5-80681596-T-C p.Ile59Met missense ACOT12 1 83136 1.20285E-5 41568 0 NA
5-80681597-A-G p.Ile59Thr missense ACOT12 1 83156 1.20256E-5 41578 0 NA
5-80681598-T-A p.Ile59Leu missense ACOT12 1 83144 1.20273E-5 41572 0 NA
5-80681615-G-A p.Thr53Ile missense ACOT12 1 83142 1.20276E-5 41571 0 3.1837E-5
5-80681619-C-T p.Val52Ile missense ACOT12 3 83086 3.61072E-5 41543 0 6.6166E-5
5-80681620-G-T p.Cys51* stop_gained ACOT12 5 83102 6.0167E-5 41551 0 NA
5-80681630-C-T p.Gly48Glu missense ACOT12 1 83058 1.20398E-5 41529 0 NA
5-80681636-T-A p.His46Leu missense ACOT12 1 83022 1.2045E-5 41511 0 NA
5-80681641-C-T p.Glu44Glu synonymous ACOT12 1 82972 1.20523E-5 41486 0 NA
5-80689799-C-T c.127+8G>A splice_region ACOT12 2 34912 5.72869E-5 17456 0 0.0021097
5-80689806-C-T c.127+1G>A splice_donor ACOT12 4 35438 1.12873E-4 17719 0 8.00983E-5
5-80689808-C-T p.Ala42Ala splice_region+synonymous ACOT12 1 35504 2.81658E-5 17752 0 9.63763E-5
5-80689833-CA-TC p.Trp34Glu missense ACOT12 1 37620 2.65816E-5 18810 0 NA
5-80689853-G-A p.Ser27Ser synonymous ACOT12 85 38248 0.00222234 19124 0 0.00728408
5-80689867-G-A p.Arg23Cys missense ACOT12 1 38548 2.59417E-5 19274 0 9.11245E-6
5-80689869-G-A p.Ala22Val missense ACOT12 2 38580 5.18403E-5 19290 0 NA
5-80689912-C-T p.Glu8Lys missense ACOT12 16 38588 4.14637E-4 19294 0 7.06124E-4
5-80689915-C-T p.Gly7Ser missense ACOT12 2 38528 5.19103E-5 19264 0 1.15207E-5
5-80689929-T-G p.Glu2Ala missense ACOT12 2 38270 5.22603E-5 19135 0 NA
5-80689931-C-T p.Met1? start_lost ACOT12 1 38278 2.61247E-5 19139 0 NA
5-80689967-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain ACOT12 1 35976 2.77963E-5 17988 0 NA
5-80689974-C-A c.-41G>T 5_prime_UTR_premature_start_codon_gain ACOT12 1 35688 2.80206E-5 17844 0 NA