Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-211053688-C-T p.Lys430Lys synonymous ACADL 1 82602 1.21062E-5 41301 0 NA
2-211053705-C-G p.Glu425Gln missense ACADL 1 82678 1.20951E-5 41339 0 NA
2-211053710-G-A p.Ala423Val missense ACADL 1 82668 1.20966E-5 41334 0 NA
2-211053711-C-T p.Ala423Thr missense ACADL 2 82678 2.41902E-5 41339 0 NA
2-211053713-A-G p.Ile422Thr missense ACADL 1 82662 1.20975E-5 41331 0 3.98194E-6
2-211053735-T-C p.Asn415Asp missense ACADL 1 82572 1.21106E-5 41286 0 NA
2-211053744-C-G p.Gly412Arg missense ACADL 1 82460 1.21271E-5 41230 0 6.37146E-5
2-211053744-C-T p.Gly412Ser missense ACADL 1 82460 1.21271E-5 41230 0 NA
2-211053750-T-C p.Ile410Val missense ACADL 2 82382 2.42771E-5 41191 0 NA
2-211057520-A-C c.1199+8T>G splice_region ACADL 2 82818 2.41493E-5 41409 0 NA
2-211057523-C-T c.1199+5G>A splice_region ACADL 1 82822 1.20741E-5 41411 0 NA
2-211057528-T-G p.Lys400Thr missense+splice_region ACADL 1 82844 1.20709E-5 41422 0 NA
2-211057536-T-C p.Pro397Pro synonymous ACADL 8 82840 9.65717E-5 41420 0 0.00100705
2-211057538-G-A p.Pro397Ser missense ACADL 1 82850 1.207E-5 41425 0 NA
2-211057541-AC-A p.Glu395fs frameshift ACADL 4 82838 4.8287E-5 41419 0 4.1375E-5
2-211057542-C-G p.Glu395Asp missense ACADL 5 82842 6.03559E-5 41421 0 1.91144E-4
2-211057542-C-T p.Glu395Glu synonymous ACADL 2 82842 2.41423E-5 41421 0 8.27404E-6
2-211057575-TAC-T p.Val384fs frameshift ACADL 2 82836 2.41441E-5 41418 0 3.18451E-5
2-211057584-G-A p.Tyr381Tyr synonymous ACADL 2 82866 2.41354E-5 41433 0 1.19519E-5
2-211059930-C-T c.1112+5G>A splice_region ACADL 24 82724 2.90121E-4 41362 0 8.59982E-4
2-211059939-A-G p.Tyr370His missense ACADL 1 82796 1.20779E-5 41398 0 3.1841E-5
2-211059943-C-T p.Ala368Ala synonymous ACADL 1 82792 1.20785E-5 41396 0 5.04032E-4
2-211059944-G-A p.Ala368Val missense ACADL 3 82804 3.62301E-5 41402 0 6.37064E-5
2-211059953-G-A p.Ala365Val missense ACADL 1 82852 1.20697E-5 41426 0 NA
2-211059960-C-T p.Ala363Thr missense ACADL 4 82852 4.82789E-5 41426 0 6.25E-4
2-211059961-G-A p.Ser362Ser synonymous ACADL 2 82870 2.41342E-5 41435 0 4.38366E-5
2-211059965-T-G p.Asp361Ala missense ACADL 1 82892 1.20639E-5 41446 0 NA
2-211059966-C-T p.Asp361Asn missense ACADL 1 82902 1.20624E-5 41451 0 3.18512E-5
2-211059970-A-T p.Arg359Arg synonymous ACADL 1 82916 1.20604E-5 41458 0 NA
2-211059972-G-A p.Arg359Cys missense ACADL 6 82924 7.23554E-5 41462 0 5.17916E-5
2-211059976-C-T p.Ala357Ala synonymous ACADL 3 82952 3.61655E-5 41476 0 4.78053E-5
2-211059977-G-A p.Ala357Val missense ACADL 1 82954 1.20549E-5 41477 0 1.65191E-5
2-211059993-G-A p.Leu352Phe missense ACADL 1 82990 1.20496E-5 41495 0 3.18532E-5
2-211059996-A-C p.Cys351Gly missense ACADL 1 83000 1.20482E-5 41500 0 NA
2-211060013-C-T p.Arg345Gln missense ACADL 1 83000 1.20482E-5 41500 0 3.98292E-6
2-211060014-G-A p.Arg345* stop_gained ACADL 1 83004 1.20476E-5 41502 0 8.25737E-6
2-211060016-G-A p.Thr344Ile missense ACADL 1 82998 1.20485E-5 41499 0 NA
2-211060022-C-CAT p.Cys342fs frameshift ACADL 2 82978 2.41028E-5 41489 0 3.18512E-5
2-211060027-ATG-A p.His340fs frameshift ACADL 7 82946 8.43923E-5 41473 0 2.47692E-5
2-211060034-T-C p.Lys338Arg missense ACADL 3 82894 3.61908E-5 41447 0 NA
2-211060037-A-G p.Leu337Ser missense ACADL 2 82876 2.41324E-5 41438 0 3.98454E-6
2-211060048-T-A p.Lys333Asn missense ACADL 2 82790 2.41575E-5 41395 0 NA
2-211060050-T-G p.Lys333Gln missense ACADL 23917 82080 0.291386 41040 3596 0.301089
2-211060050-TAT-GAG p.HisLys332ProGln missense ACADL 2 82786 2.41587E-5 41393 0 NA
2-211060055-T-C p.Gln331Arg missense ACADL 16 82752 1.93349E-4 41376 0 6.25E-4
2-211068059-A-C p.Leu327Arg missense ACADL 2 82818 2.41493E-5 41409 0 NA
2-211068067-A-C p.Val324Val synonymous ACADL 2 82846 2.41412E-5 41423 0 NA
2-211068071-G-GT p.Thr323fs frameshift ACADL 1 82854 1.20694E-5 41427 0 8.72479E-6
2-211068073-T-A p.Lys322Asn missense ACADL 1 82864 1.2068E-5 41432 0 NA
2-211068079-A-G p.Phe320Phe synonymous ACADL 3 82888 3.61934E-5 41444 0 NA
2-211068083-G-A p.Ala319Val missense ACADL 1 82890 1.20642E-5 41445 0 NA
2-211068100-A-G p.Tyr313Tyr synonymous ACADL 94 82894 0.00113398 41447 0 8.41522E-4
2-211068103-G-GTTAAACATAACA p.Asn312_Tyr313insValMetPheAsn disruptive_inframe_insertion ACADL 374 82768 0.00451865 41384 0 0.00503505
2-211068106-C-T p.Arg311Arg synonymous ACADL 1 82876 1.20662E-5 41438 0 4.02804E-6
2-211068107-C-A p.Arg311Met missense ACADL 389 82792 0.00469852 41396 0 0.00503185
2-211068109-GGT-G p.Thr310fs frameshift ACADL 395 82802 0.00477042 41401 0 0.00500382
2-211068117-C-T p.Glu308Lys missense ACADL 1 82860 1.20685E-5 41430 0 4.01506E-6
2-211068121-C-T p.Met306Ile missense ACADL 1 82864 1.2068E-5 41432 0 NA
2-211068122-A-T p.Met306Lys missense ACADL 1 82854 1.20694E-5 41427 0 NA
2-211068122-A-G p.Met306Thr missense ACADL 4 82854 4.82777E-5 41427 2 NA
2-211068145-C-A p.Val298Val synonymous ACADL 2 82802 2.4154E-5 41401 0 4.40304E-5
2-211069315-T-G p.Glu287Ala missense ACADL 6 83060 7.22369E-5 41530 0 9.55657E-5
2-211069328-A-C p.Tyr283Asp missense ACADL 1 83072 1.20378E-5 41536 0 NA
2-211069336-C-G p.Gly280Ala missense ACADL 1 83060 1.20395E-5 41530 0 3.18593E-5
2-211069364-T-C p.Ser271Gly missense ACADL 1 83052 1.20406E-5 41526 0 NA
2-211069366-G-T p.Ala270Asp missense ACADL 1 83058 1.20398E-5 41529 0 8.25355E-6
2-211069376-G-A p.Arg267Trp missense ACADL 72 83056 8.66885E-4 41528 0 0.005
2-211069378-A-G p.Ile266Thr missense ACADL 2 83072 2.40755E-5 41536 0 3.1841E-5
2-211069382-C-G p.Asp265His missense ACADL 1 83070 1.2038E-5 41535 0 1.6512E-5
2-211069400-C-T p.Ala259Thr missense ACADL 6 83020 7.22717E-5 41510 0 9.08971E-5
2-211069401-G-A p.Thr258Thr synonymous ACADL 7 83018 8.43191E-5 41509 0 9.56206E-5
2-211070335-ATGATTTACATTATCACTCACC-A p.Asp257fs frameshift ACADL 1 82664 1.20972E-5 41332 0 3.9991E-6
2-211070356-C-T p.Gln256Gln splice_region+synonymous ACADL 2 82946 2.41121E-5 41473 0 3.18492E-5
2-211070379-G-C p.His249Asp missense ACADL 3 83058 3.61193E-5 41529 0 3.18674E-5
2-211070387-C-T p.Arg246Gln missense ACADL 8 83068 9.63066E-5 41534 0 1.91229E-4
2-211070388-G-A p.Arg246* stop_gained ACADL 4 83066 4.81545E-5 41533 0 4.77966E-5
2-211070391-C-G p.Gly245Arg missense ACADL 1 83088 1.20354E-5 41544 0 NA
2-211070391-C-T p.Gly245Arg missense ACADL 1 83088 1.20354E-5 41544 0 NA
2-211070402-C-G p.Gly241Ala missense ACADL 251 83064 0.00302177 41532 3 0.021148
2-211070402-C-T p.Gly241Glu missense ACADL 1 83070 1.2038E-5 41535 0 4.95606E-5
2-211070403-C-T p.Gly241Arg missense ACADL 1 83056 1.20401E-5 41528 0 NA
2-211070406-T-G p.Lys240Gln missense ACADL 1 83052 1.20406E-5 41526 0 NA
2-211070424-G-T p.Leu234Met missense ACADL 5 83024 6.02235E-5 41512 0 5.03525E-4
2-211070427-A-G p.Phe233Leu missense ACADL 2 83012 2.40929E-5 41506 0 NA
2-211070444-G-A p.Ala227Val missense ACADL 2 83006 2.40946E-5 41503 0 NA
2-211070445-C-G p.Ala227Pro missense ACADL 1 83006 1.20473E-5 41503 0 NA
2-211070453-G-C p.Pro224Arg missense ACADL 1 82996 1.20488E-5 41498 0 NA
2-211070465-T-C p.Asn220Ser missense ACADL 6 82998 7.22909E-5 41499 0 7.9647E-5
2-211070470-G-A p.Val218Val synonymous ACADL 506 82986 0.00609741 41493 5 0.0100705
2-211070473-C-T p.Ala217Ala synonymous ACADL 78 83008 9.39668E-4 41504 0 0.001875
2-211070474-G-A p.Ala217Val missense ACADL 4 82994 4.81963E-5 41497 0 3.18532E-5
2-211070483-A-G p.Ile214Thr missense ACADL 2 83016 2.40917E-5 41508 0 1.19466E-5
2-211070493-C-G p.Asp211His missense ACADL 6 83018 7.22735E-5 41509 0 4.77855E-5
2-211070495-C-T p.Ser210Asn missense ACADL 1 83014 1.20462E-5 41507 0 6.3678E-5
2-211070497-TA-T p.Leu209fs frameshift ACADL 52 83024 6.26325E-4 41512 2 0.00654582
2-211070503-C-A p.Gly207Gly synonymous ACADL 37 83016 4.45697E-4 41508 0 0.0020141
2-211070505-C-A p.Gly207Trp missense ACADL 2 83028 2.40883E-5 41514 0 NA
2-211070518-C-A p.Val202Val splice_region+synonymous ACADL 1 83026 1.20444E-5 41513 0 NA
2-211074912-T-C c.603+8A>G splice_region ACADL 1 82888 1.20645E-5 41444 0 NA
2-211074943-C-A p.Asp194Tyr missense ACADL 2 82912 2.4122E-5 41456 0 NA
2-211074954-T-G p.Lys190Thr missense ACADL 1 82902 1.20624E-5 41451 0 NA
2-211074957-T-G p.Lys189Thr missense ACADL 2 82892 2.41278E-5 41446 0 5.03525E-4
2-211074961-C-A p.Ala188Ser missense ACADL 1 82870 1.20671E-5 41435 0 NA
2-211074962-A-G p.Asn187Asn synonymous ACADL 1 82862 1.20683E-5 41431 0 3.98371E-6
2-211081073-T-C p.Gly178Gly splice_region+synonymous ACADL 1 82892 1.20639E-5 41446 0 1.59327E-5
2-211081078-C-T p.Ala177Thr missense ACADL 1 82942 1.20566E-5 41471 0 4.12045E-5
2-211081085-C-A p.Glu174Asp missense ACADL 1 82994 1.20491E-5 41497 0 3.98153E-6
2-211081090-T-A p.Thr173Ser missense ACADL 1 83024 1.20447E-5 41512 0 6.36943E-5
2-211081093-T-A p.Met172Leu missense ACADL 1 83042 1.20421E-5 41521 0 3.18436E-5
2-211081099-T-C p.Ile170Val missense ACADL 2 83064 2.40778E-5 41532 0 3.18451E-5
2-211081110-C-T p.Cys166Tyr missense ACADL 1 83088 1.20354E-5 41544 0 8.24063E-6
2-211081119-G-T p.Ala163Glu missense ACADL 1 83106 1.20328E-5 41553 0 NA
2-211081126-T-C p.Met161Val missense ACADL 8 83120 9.62464E-5 41560 0 1.48326E-4
2-211081144-T-C p.Lys155Glu missense ACADL 4 83168 4.80954E-5 41584 0 4.12113E-5
2-211081161-C-G p.Gly149Ala missense ACADL 1 83160 1.2025E-5 41580 0 NA
2-211081163-A-G p.His148His synonymous ACADL 2 83170 2.40471E-5 41585 0 8.2481E-6
2-211081173-A-T p.Ile145Asn missense ACADL 1 83178 1.20224E-5 41589 0 9.55536E-5
2-211081175-A-G p.Tyr144Tyr synonymous ACADL 4 83172 4.80931E-5 41586 0 1.27413E-4
2-211081181-C-T p.Met142Ile missense ACADL 1 83162 1.20247E-5 41581 0 7.16486E-5
2-211081217-T-C p.Ser130Ser synonymous ACADL 1 83116 1.20314E-5 41558 0 3.33895E-5
2-211081233-G-C p.Ala125Gly missense+splice_region ACADL 1 83028 1.20441E-5 41514 0 NA
2-211081237-T-A c.372-2A>T splice_acceptor ACADL 3 82994 3.61472E-5 41497 0 6.38244E-5
2-211081242-A-AT c.372-8dupA splice_region ACADL 101 82896 0.00121839 41448 0 0.00261146
2-211082697-C-A p.Trp121Cys missense ACADL 1 83320 1.20019E-5 41660 0 3.97785E-6
2-211082708-C-T p.Ala118Thr missense ACADL 2 83340 2.39981E-5 41670 0 NA
2-211082711-C-T p.Ala117Thr missense ACADL 20 83344 2.39969E-4 41672 0 5.03525E-4
2-211082712-G-A p.Ser116Ser synonymous ACADL 4 83344 4.79939E-5 41672 0 1.23313E-4
2-211082720-G-A p.Leu114Leu synonymous ACADL 2 83344 2.39969E-5 41672 0 6.37227E-5
2-211082726-C-T p.Gly112Arg missense ACADL 1 83352 1.19973E-5 41676 0 NA
2-211082729-C-T p.Gly111Arg missense ACADL 1 83354 1.1997E-5 41677 0 1.64864E-4
2-211082731-A-G p.Ile110Thr missense ACADL 3 83354 3.59911E-5 41677 0 2.47304E-5
2-211082738-C-G p.Gly108Arg missense ACADL 1 83372 1.19944E-5 41686 0 8.24362E-6
2-211082749-G-A p.Ala104Val missense ACADL 1 83384 1.19927E-5 41692 0 NA
2-211082750-C-T p.Ala104Thr missense ACADL 1 83382 1.1993E-5 41691 0 NA
2-211082751-A-G p.Ile103Ile synonymous ACADL 2 83390 2.39837E-5 41695 0 3.97738E-6
2-211082752-A-G p.Ile103Thr missense ACADL 1 83390 1.19918E-5 41695 0 NA
2-211082759-C-T p.Val101Ile missense ACADL 1 83390 1.19918E-5 41695 0 NA
2-211082766-C-T p.Leu98Leu synonymous ACADL 1 83380 1.19933E-5 41690 0 5.17088E-5
2-211082771-C-T p.Gly97Arg missense ACADL 2 83376 2.39877E-5 41688 0 NA
2-211082773-T-G p.Gln96Pro missense ACADL 23 83382 2.75839E-4 41691 0 0.00251762
2-211082788-T-C p.Glu91Gly missense ACADL 1 83372 1.19944E-5 41686 0 NA
2-211082789-C-A p.Glu91* stop_gained ACADL 1 83370 1.19947E-5 41685 0 8.2545E-6
2-211082796-C-T p.Glu88Glu synonymous ACADL 1 83360 1.19962E-5 41680 0 8.25968E-6
2-211082796-CT-C p.Glu88fs frameshift ACADL 1 83360 1.19962E-5 41680 0 8.25968E-6
2-211082802-A-G p.Ser86Ser synonymous ACADL 1 83346 1.19982E-5 41673 0 3.98019E-6
2-211082824-C-T p.Trp79* stop_gained ACADL 1 83306 1.20039E-5 41653 0 1.68158E-5
2-211082830-C-T c.234-4G>A splice_region ACADL 3 83292 3.60179E-5 41646 0 8.73897E-6
2-211085396-C-T p.Glu70Lys missense ACADL 1 83044 1.20418E-5 41522 0 NA
2-211085406-C-T p.Lys66Lys synonymous ACADL 1 83042 1.20421E-5 41521 0 NA
2-211085409-C-A p.Arg65Ser missense ACADL 2 83040 2.40848E-5 41520 0 NA
2-211085417-T-C p.Ser63Gly missense ACADL 1 83042 1.20421E-5 41521 0 3.18512E-5
2-211085423-G-A p.Arg61Trp missense ACADL 6 83054 7.22422E-5 41527 0 1.81659E-4
2-211085424-G-C p.Phe60Leu missense ACADL 7 83048 8.42886E-5 41524 0 9.95175E-5
2-211085436-C-T p.Glu56Glu synonymous ACADL 4 83046 4.81661E-5 41523 0 8.28487E-6
2-211085455-C-T p.Arg50Gln missense ACADL 1 82986 1.20502E-5 41493 0 4.21344E-5
2-211085456-G-A p.Arg50* stop_gained ACADL 9 82974 1.08468E-4 41487 0 0.00100806
2-211085464-A-G p.Ile47Thr missense ACADL 31 82926 3.73827E-4 41463 0 2.23029E-4
2-211085466-A-G p.Asp46Asp synonymous ACADL 6 82926 7.23537E-5 41463 0 2.58069E-4
2-211085475-T-A p.Lys43Asn missense ACADL 26 82838 3.13866E-4 41419 0 3.59592E-5
2-211085491-G-A p.Thr38Ile missense ACADL 2428 82538 0.0294168 41269 40 0.0590102
2-211085500-C-A p.Arg35Leu missense ACADL 1 82486 1.21233E-5 41243 0 0.0010101
2-211085500-C-T p.Arg35His missense ACADL 2 82486 2.42465E-5 41243 0 1.61633E-5
2-211085501-G-A p.Arg35Cys missense ACADL 1 82472 1.21253E-5 41236 0 3.18512E-5
2-211085503-T-A p.Glu34Val missense ACADL 1 82436 1.21306E-5 41218 0 NA
2-211085510-C-T p.Gly32Arg missense ACADL 7 82242 8.51147E-5 41121 0 0.00151362
2-211085513-C-T p.Gly31Arg missense ACADL 4 82178 4.86748E-5 41089 0 1.07089E-4
2-211085514-G-A p.Ser30Ser synonymous ACADL 7 82098 8.52639E-5 41049 0 6.05327E-5
2-211085518-T-C p.His29Arg missense ACADL 5 81906 6.10456E-5 40953 0 1.8391E-4
2-211085533-A-T c.78-7T>A splice_region ACADL 2 80782 2.4758E-5 40391 0 9.80072E-5
2-211089911-C-T p.Arg26Gln missense+splice_region ACADL 1 46998 2.12775E-5 23499 0 3.18939E-5
2-211089928-G-A p.Arg20Arg synonymous ACADL 14 48338 2.89627E-4 24169 0 0.00112847
2-211089932-G-T p.Pro19Gln missense ACADL 1 48494 2.06211E-5 24247 0 8.47314E-5
2-211089934-C-A p.Ala18Ala synonymous ACADL 6 48670 1.23279E-4 24335 0 3.18878E-5
2-211089937-A-G p.Arg17Arg synonymous ACADL 1 49070 2.0379E-5 24535 0 7.05995E-6
2-211089951-G-A p.Leu13Leu synonymous ACADL 4 50118 7.98116E-5 25059 0 5.10237E-4
2-211089963-A-AC p.Ser9fs frameshift ACADL 1 50898 1.96471E-5 25449 0 6.76865E-5
2-211089964-C-A p.Gly8Gly synonymous ACADL 2 50996 3.92188E-5 25498 0 NA
2-211089966-C-T p.Gly8Arg missense ACADL 1 51016 1.96017E-5 25508 0 3.18715E-5
2-211089968-C-A p.Arg7Leu missense ACADL 1 50970 1.96194E-5 25485 0 6.35865E-6
2-211089969-G-T p.Arg7Arg synonymous ACADL 1 51114 1.95641E-5 25557 0 NA
2-211089977-C-T p.Arg4His missense ACADL 1 51256 1.95099E-5 25628 0 1.295E-4
2-211089981-C-A p.Ala3Ser missense ACADL 8 51086 1.56599E-4 25543 0 0.00187735