Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-107992261-C-T c.-73C>T 5_prime_UTR_premature_start_codon_gain ACAT1 1 76616 1.30521E-5 38308 0 NA
11-107992266-G-T c.-68G>T 5_prime_UTR_premature_start_codon_gain ACAT1 2 77420 2.58331E-5 38710 0 3.18552E-5
11-107992277-T-C c.-57T>C 5_prime_UTR_premature_start_codon_gain ACAT1 1 77914 1.28347E-5 38957 0 6.3861E-5
11-107992294-A-G c.-40A>G 5_prime_UTR_premature_start_codon_gain ACAT1 1 78862 1.26804E-5 39431 0 NA
11-107992312-C-T c.-22C>T 5_prime_UTR_premature_start_codon_gain ACAT1 3 79064 3.79439E-5 39532 0 9.56572E-5
11-107992319-C-G c.-15C>G 5_prime_UTR_premature_start_codon_gain ACAT1 700 78926 0.00886907 39463 18 0.0197922
11-107992326-C-T c.-8C>T 5_prime_UTR_premature_start_codon_gain ACAT1 1 78748 1.26987E-5 39374 0 NA
11-107992330-G-GACC c.-2_1dupCCA start_lost ACAT1 2 78480 2.54842E-5 39240 0 1.98873E-5
11-107992338-C-T p.Ala2Val missense ACAT1 2 78248 2.55598E-5 39124 0 6.62875E-6
11-107992346-G-C p.Ala5Pro missense ACAT1 25805 77124 0.334591 38562 4598 0.456713
11-107992349-G-A p.Ala6Thr missense ACAT1 1 77714 1.28677E-5 38857 0 0.00164654
11-107992361-A-AGCGGCGCCCGCAGCC p.Gly11_Arg15dup conservative_inframe_insertion ACAT1 1 77268 1.2942E-5 38634 0 6.66604E-6
11-107992362-GC-G p.Ser10fs frameshift ACAT1 1 77244 1.2946E-5 38622 0 6.67485E-6
11-107992367-G-A p.Ala12Thr missense ACAT1 6 76980 7.79423E-5 38490 0 0.00273224
11-107992372-C-A p.Arg13Arg synonymous ACAT1 1 76958 1.29941E-5 38479 0 NA
11-107992380-G-GC p.Leu18fs frameshift ACAT1 1 76846 1.3013E-5 38423 0 2.68969E-5
11-107992393-G-C p.Arg20Arg synonymous ACAT1 76 76468 9.9388E-4 38234 0 0.00226316
11-107992397-C-G p.Leu22Val missense ACAT1 1 76316 1.31034E-5 38158 0 NA
11-107992406-G-GAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCAC c.72+1_72+2insAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCAC splice_donor ACAT1 4 75858 5.27301E-5 37929 2 NA
11-107992406-G-GAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCACT c.72+1_72+2insAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCACT splice_donor ACAT1 4 75858 5.27301E-5 37929 2 NA
11-107992411-C-A c.72+6C>A splice_region ACAT1 1 75434 1.32566E-5 37717 0 NA
11-107992564-G-A c.-288G>A 5_prime_UTR_premature_start_codon_gain ACAT1 1 46770 2.13812E-5 23385 0 NA
11-107992619-A-G n.142A>G splice_region ACAT1 1 24782 4.03519E-5 12391 0 3.18674E-5
11-108002645-T-C p.Tyr28Tyr synonymous ACAT1 6 80376 7.46491E-5 40188 0 9.56694E-5
11-108002646-G-T p.Val29Leu missense ACAT1 1 80496 1.2423E-5 40248 0 3.18939E-5
11-108002650-A-G p.Glu30Gly missense ACAT1 2 80846 2.47384E-5 40423 0 NA
11-108002652-C-T p.Arg31Trp missense ACAT1 7 80762 8.66744E-5 40381 0 1.9162E-4
11-108002653-G-A p.Arg31Gln missense ACAT1 2 80878 2.47286E-5 40439 0 2.50903E-5
11-108002666-A-G p.Ser35Ser synonymous ACAT1 1 81350 1.22926E-5 40675 0 8.03658E-6
11-108002674-C-T p.Thr38Ile missense ACAT1 7 81364 8.60331E-5 40682 0 2.55021E-4
11-108004544-C-T c.121-3C>T splice_region ACAT1 1 83282 1.20074E-5 41641 0 NA
11-108004552-G-T c.-145G>T 5_prime_UTR_premature_start_codon_gain ACAT1 1 83306 1.20039E-5 41653 0 NA
11-108004559-G-GT p.Ser46fs frameshift ACAT1 1 83306 1.20039E-5 41653 0 NA
11-108004561-AA-GC p.ValSer45ValArg missense ACAT1 1 83302 1.20045E-5 41651 0 NA
11-108004563-G-C p.Ser46Thr missense ACAT1 1 83306 1.20039E-5 41653 0 NA
11-108004564-T-C p.Ser46Ser synonymous ACAT1 1 83304 1.20042E-5 41652 0 6.25E-4
11-108004565-G-A p.Ala47Thr missense ACAT1 13 83306 1.56051E-4 41653 0 9.55414E-5
11-108004566-C-G p.Ala47Gly missense ACAT1 2 83312 2.40061E-5 41656 0 3.97646E-6
11-108004577-C-T p.Pro51Ser missense ACAT1 1 83306 1.20039E-5 41653 0 NA
11-108004578-C-T p.Pro51Leu missense ACAT1 1 83304 1.20042E-5 41652 0 NA
11-108004581-T-C p.Ile52Thr missense ACAT1 4 83304 4.80169E-5 41652 0 6.3678E-5
11-108004589-T-A p.Phe55Ile missense ACAT1 1 83312 1.20031E-5 41656 0 3.18532E-5
11-108004600-C-A p.Ser58Arg missense ACAT1 2 83312 2.40061E-5 41656 0 8.23723E-6
11-108004622-A-G p.Lys66Glu missense ACAT1 1 83318 1.20022E-5 41659 0 NA
11-108004636-T-G p.Ile70Met missense ACAT1 3 83310 3.60101E-5 41655 0 7.95355E-6
11-108004644-A-C p.Gln73Pro missense ACAT1 1 83314 1.20028E-5 41657 0 8.23669E-6
11-108004651-C-T p.Ala75Ala synonymous ACAT1 3 83298 3.60153E-5 41649 0 5.03525E-4
11-108004655-G-A p.Glu77Lys missense ACAT1 2 83302 2.4009E-5 41651 0 1.64739E-5
11-108004671-A-G c.238+7A>G splice_region ACAT1 2 83258 2.40217E-5 41629 0 NA
11-108004940-T-A c.239-8T>A splice_region ACAT1 2 82754 2.4168E-5 41377 0 8.30496E-5
11-108004958-A-G p.Lys83Lys synonymous ACAT1 1 83168 1.20239E-5 41584 0 NA
11-108004973-A-G p.Glu88Glu synonymous ACAT1 3 83256 3.60334E-5 41628 0 3.97997E-6
11-108004975-C-G p.Ala89Gly missense ACAT1 1 83272 1.20088E-5 41636 0 8.25096E-6
11-108004976-A-G p.Ala89Ala synonymous ACAT1 4 83276 4.8033E-5 41638 0 3.19387E-5
11-108004997-A-G p.Gln96Gln synonymous ACAT1 2 83320 2.40038E-5 41660 0 7.95393E-6
11-108005000-A-T p.Gly97Gly synonymous ACAT1 3 83336 3.59988E-5 41668 0 8.24022E-6
11-108005032-T-C p.Val108Ala missense ACAT1 1 83340 1.1999E-5 41670 0 NA
11-108005034-T-C p.Leu109Leu synonymous ACAT1 2 83340 2.39981E-5 41670 0 5.76692E-5
11-108005175-T-C n.506T>C splice_region ACAT1 1 72124 1.3865E-5 36062 0 NA
11-108005873-A-T p.Leu113Phe missense ACAT1 1 83290 1.20062E-5 41645 0 3.97874E-6
11-108005874-C-T p.Pro114Ser missense ACAT1 1 83286 1.20068E-5 41643 0 NA
11-108005875-C-T p.Pro114Leu missense ACAT1 4 83286 4.80273E-5 41643 0 NA
11-108005877-A-G p.Ile115Val missense ACAT1 1 83288 1.20065E-5 41644 0 3.97842E-6
11-108005882-T-C p.Ser116Ser synonymous ACAT1 1 83296 1.20054E-5 41648 0 8.31988E-6
11-108005890-G-A p.Cys119Tyr missense ACAT1 1 83314 1.20028E-5 41657 0 3.18918E-5
11-108005892-A-G p.Thr120Ala missense ACAT1 1 83308 1.20036E-5 41654 0 NA
11-108005909-T-C p.Val125Val synonymous ACAT1 2 83306 2.40079E-5 41653 0 5.17108E-5
11-108005912-T-C p.Cys126Cys synonymous ACAT1 4 83304 4.80169E-5 41652 0 2.48398E-5
11-108005918-A-G p.Ser128Ser synonymous ACAT1 3 83308 3.60109E-5 41654 0 1.6567E-5
11-108005924-G-T p.Met130Ile missense ACAT1 1 83304 1.20042E-5 41652 0 NA
11-108005962-G-A p.Gly143Glu missense ACAT1 1 83278 1.2008E-5 41639 0 NA
11-108006785-TCTTTA-T c.436-11_436-7delCTTTA splice_region ACAT1 2 52146 3.83539E-5 26073 0 9.081E-5
11-108006800-A-C p.Lys147Gln missense ACAT1 1 52524 1.90389E-5 26262 0 NA
11-108006800-A-G p.Lys147Glu missense ACAT1 1 52524 1.90389E-5 26262 0 NA
11-108006802-G-A p.Lys147Lys synonymous ACAT1 1 52614 1.90063E-5 26307 0 1.39829E-5
11-108006806-G-T p.Glu149* stop_gained ACAT1 1 52648 1.89941E-5 26324 0 6.37105E-5
11-108006817-C-T p.Ser152Ser synonymous ACAT1 7 52682 1.32873E-4 26341 0 3.18674E-5
11-108006823-A-G p.Ala154Ala synonymous ACAT1 1 52656 1.89912E-5 26328 0 NA
11-108006838-T-C p.His159His synonymous ACAT1 1 52676 1.8984E-5 26338 0 NA
11-108009618-T-C c.436-7T>C splice_region ACAT1 1 83400 1.19904E-5 41700 0 1.59071E-5
11-108009620-C-T c.436-5C>T splice_region ACAT1 1 83396 1.1991E-5 41698 0 7.41278E-5
11-108009621-G-C c.436-4G>C splice_region ACAT1 34 83392 4.07713E-4 41696 0 2.9033E-4
11-108009621-G-A c.436-4G>A splice_region ACAT1 80 83388 9.59371E-4 41694 0 0.00339646
11-108009627-T-C p.Cys113Arg missense+splice_region ACAT1 1 83408 1.19893E-5 41704 0 7.95317E-6
11-108009632-TGG-T p.Met148fs frameshift ACAT1 4 83408 4.7957E-5 41704 0 8.23642E-6
11-108009651-G-C p.Glu154Asp missense ACAT1 1 83410 1.1989E-5 41705 0 NA
11-108009660-C-A p.Gln124Lys missense ACAT1 12964 83264 0.155698 41632 1066 0.168251
11-108009661-A-G p.Asn158Asp missense ACAT1 6 83412 7.19321E-5 41706 0 5.96625E-5
11-108009662-A-G p.Asn158Ser missense ACAT1 5 83412 5.99434E-5 41706 0 5.03525E-4
11-108009666-T-G p.Ser126Ala missense ACAT1 3 83414 3.59652E-5 41707 0 3.97735E-6
11-108009669-A-G p.Ile127Val missense ACAT1 31 83412 3.71649E-4 41706 0 8.28078E-4
11-108009672-T-G p.Tyr161* stop_gained ACAT1 1 83408 1.19893E-5 41704 0 NA
11-108009673-G-A p.Val162Ile missense ACAT1 1 83402 1.19901E-5 41701 0 NA
11-108009678-G-T p.Glu130* stop_gained ACAT1 1 83406 1.19895E-5 41703 0 1.59081E-5
11-108009691-A-G p.Thr168Ala missense ACAT1 5 83404 5.99492E-5 41702 0 8.23655E-5
11-108009695-C-A p.Pro169Gln missense ACAT1 1 83402 1.19901E-5 41701 0 3.97697E-6
11-108009703-G-GTTAAATAATATAAT p.Gly172fs frameshift ACAT1 1 83398 1.19907E-5 41699 0 NA
11-108009703-G-GTTAAATAATATAATGA p.Gly172fs frameshift ACAT1 1 83398 1.19907E-5 41699 0 NA
11-108009711-G-C p.Lys174Asn missense ACAT1 3 83392 3.59747E-5 41696 0 3.18492E-5
11-108009714-T-C p.Ter142Argext*? stop_lost ACAT1 1 83384 1.19927E-5 41692 0 NA
11-108009723-G-C p.Leu178Phe missense ACAT1 1 83368 1.1995E-5 41684 0 3.97716E-6
11-108009735-C-T p.Asp182Asp synonymous ACAT1 7 83350 8.39832E-5 41675 0 6.76138E-5
11-108009769-G-GGCAGC p.Val129fs frameshift ACAT1 2 83270 2.40183E-5 41635 1 NA
11-108010792-G-T p.Gly194Cys missense+splice_region ACAT1 1 82966 1.20531E-5 41483 0 NA
11-108010796-G-A p.Ser195Asn missense ACAT1 1 82962 1.20537E-5 41481 0 NA
11-108010819-A-C p.Lys203Gln missense ACAT1 3 83042 3.61263E-5 41521 0 6.3678E-5
11-108010825-A-C p.Asn205His missense ACAT1 1 83074 1.20375E-5 41537 0 3.1841E-5
11-108010825-A-G p.Asn205Asp missense ACAT1 1 83074 1.20375E-5 41537 0 3.98115E-6
11-108010839-T-C p.Asn209Asn synonymous ACAT1 1 83126 1.20299E-5 41563 0 6.3678E-5
11-108010848-C-T p.Asp212Asp synonymous ACAT1 3 83152 3.60785E-5 41576 0 6.3674E-5
11-108010849-G-A p.Ala213Thr missense ACAT1 4 83148 4.8107E-5 41574 0 4.13387E-5
11-108010857-T-TATTA p.Ser218fs frameshift ACAT1 1 83174 1.2023E-5 41587 0 8.25859E-6
11-108010861-A-G p.Asn217Asp missense ACAT1 3 83180 3.60664E-5 41590 0 8.25532E-6
11-108010872-C-A p.Thr220Thr synonymous ACAT1 1 83192 1.20204E-5 41596 0 NA
11-108010898-G-A p.Gly229Glu missense ACAT1 1 83192 1.20204E-5 41596 0 3.97899E-6
11-108010899-G-A p.Gly229Gly synonymous ACAT1 1 83200 1.20192E-5 41600 0 3.1835E-5
11-108010911-T-C p.Asn233Asn synonymous ACAT1 1 83194 1.20201E-5 41597 0 NA
11-108010921-C-A p.Pro237Thr missense ACAT1 1 83194 1.20201E-5 41597 0 5.57045E-5
11-108010924-G-T p.Val238Phe missense ACAT1 1 83190 1.20207E-5 41595 0 NA
11-108010930-G-C p.Val240Leu missense ACAT1 2 83180 2.40442E-5 41590 0 NA
11-108010933-A-G p.Thr241Ala missense ACAT1 1 83172 1.20233E-5 41586 0 1.65008E-5
11-108010944-T-C c.730+2T>C splice_donor ACAT1 1 83148 1.20267E-5 41574 0 3.98032E-6
11-108010948-G-A c.730+6G>A splice_region ACAT1 1 83124 1.20302E-5 41562 0 NA
11-108010948-G-C c.730+6G>C splice_region ACAT1 1 83124 1.20302E-5 41562 0 7.96109E-6
11-108012343-G-A p.Val248Ile missense ACAT1 1 83008 1.2047E-5 41504 0 6.37146E-5
11-108012352-AAAG-A p.Glu252del disruptive_inframe_deletion ACAT1 1 83052 1.20406E-5 41526 0 8.35324E-6
11-108012358-G-A p.Asp253Asn missense ACAT1 2 83080 2.40732E-5 41540 0 NA
11-108012360-T-A p.Asp253Glu missense ACAT1 1 83078 1.20369E-5 41539 0 NA
11-108012360-T-C p.Asp253Asp synonymous ACAT1 6 83078 7.22213E-5 41539 0 3.18654E-5
11-108012371-A-C p.Lys257Thr missense ACAT1 2 83090 2.40703E-5 41545 0 4.99251E-5
11-108012373-C-T p.Arg258Cys missense ACAT1 13 83072 1.56491E-4 41536 0 6.25E-4
11-108012377-T-C p.Val259Ala missense ACAT1 3 83074 3.61124E-5 41537 0 3.98514E-6
11-108012399-G-A p.Lys266Lys synonymous ACAT1 2 83066 2.40772E-5 41533 0 NA
11-108012401-T-C p.Leu267Pro missense ACAT1 2 83062 2.40784E-5 41531 0 NA
11-108012405-GAC-G p.Thr269fs frameshift ACAT1 2 83050 2.40819E-5 41525 0 3.98581E-6
11-108012415-C-T p.Gln272* stop_gained ACAT1 2 83004 2.40952E-5 41502 0 3.18776E-5
11-108012417-G-T p.Gln272His missense ACAT1 41 82984 4.94071E-4 41492 1 1.78863E-4
11-108012421-GA-G p.Asn275fs frameshift ACAT1 2 82960 2.4108E-5 41480 0 3.99128E-6
11-108012424-A-G p.Asn275Asp missense ACAT1 1 82944 1.20563E-5 41472 0 NA
11-108012430-T-G c.826+3T>G splice_region ACAT1 2 82862 2.41365E-5 41431 0 1.74149E-5
11-108013177-T-C p.Ala280Ala synonymous ACAT1 1 83010 1.20467E-5 41505 0 NA
11-108013181-A-C p.Asn282His missense ACAT1 1 83028 1.20441E-5 41514 0 8.47788E-6
11-108013182-A-G p.Asn282Ser missense ACAT1 2 83020 2.40906E-5 41510 0 NA
11-108013190-A-G p.Thr285Ala missense ACAT1 3 83018 3.61367E-5 41509 0 NA
11-108013193-C-G p.Leu286Val missense ACAT1 1 83016 1.20459E-5 41508 0 NA
11-108013194-T-C p.Leu286Pro missense ACAT1 3 83018 3.61367E-5 41509 0 NA
11-108013195-G-A p.Leu286Leu synonymous ACAT1 16 83014 1.92739E-4 41507 0 0.00125
11-108013203-G-A p.Gly289Glu missense ACAT1 1 83024 1.20447E-5 41512 0 NA
11-108013226-A-T p.Thr297Ser missense ACAT1 1 83010 1.20467E-5 41505 0 NA
11-108013227-C-A p.Thr297Lys missense ACAT1 2 83010 2.40935E-5 41505 0 3.98086E-6
11-108013227-C-T p.Thr297Met missense ACAT1 1 83010 1.20467E-5 41505 0 1.19426E-5
11-108013228-G-A p.Thr297Thr synonymous ACAT1 7 83008 8.43292E-5 41504 0 6.63647E-5
11-108013236-C-T p.Ala300Val missense ACAT1 1 82948 1.20557E-5 41474 0 NA
11-108013239-C-T p.Ala301Val missense ACAT1 1 82908 1.20616E-5 41454 0 2.49157E-5
11-108013240-G-A p.Ala301Ala synonymous ACAT1 129 82904 0.00155602 41452 2 0.00328005
11-108013244-A-T p.Arg303Trp missense ACAT1 2 82900 2.41255E-5 41450 0 8.30606E-6
11-108013251-A-C p.Asn305Thr missense ACAT1 1 82838 1.20718E-5 41419 0 NA
11-108013251-A-G p.Asn305Ser missense ACAT1 2 82838 2.41435E-5 41419 0 6.36862E-5
11-108013255-T-A p.Val306Val synonymous ACAT1 2 82778 2.4161E-5 41389 0 4.77943E-5
11-108013259-C-T p.Pro308Ser missense ACAT1 1 82666 1.20969E-5 41333 0 NA
11-108013273-A-T p.Ile312Ile synonymous ACAT1 2 82438 2.42607E-5 41219 0 NA
11-108013276-A-T p.Val313Val splice_region+synonymous ACAT1 1 82316 1.21483E-5 41158 0 NA
11-108014672-AAG-A c.*1809_*4958delAG splice_region ACAT1 2 82972 2.41045E-5 41486 0 2.02066E-5
11-108014704-A-C c.941-6A>C splice_region ACAT1 1 82078 1.21835E-5 41039 0 NA
11-108014707-CAG-AAA c.941-3_941-1delCAGinsAAA splice_acceptor ACAT1 1 82104 1.21797E-5 41052 0 NA
11-108014710-C-T p.Ala314Val missense+splice_region ACAT1 3 82456 3.6383E-5 41228 0 8.30344E-6
11-108014711-A-T p.Ala314Ala splice_region+synonymous ACAT1 1 82422 1.21327E-5 41211 0 NA
11-108014737-T-C p.Ile323Thr missense ACAT1 3 83216 3.60508E-5 41608 0 3.29587E-5
11-108014742-T-C p.Phe325Leu missense ACAT1 2 83244 2.40258E-5 41622 0 NA
11-108014747-A-C p.Pro326Pro synonymous ACAT1 316 83240 0.00379625 41620 6 0.00840364
11-108014748-A-G p.Ile327Val missense ACAT1 11 83286 1.32075E-4 41643 0 2.47137E-4
11-108014749-T-C p.Ile327Thr missense ACAT1 1 83284 1.20071E-5 41642 0 NA
11-108014754-C-A p.Pro329Thr missense ACAT1 1 83284 1.20071E-5 41642 0 8.23723E-6
11-108014759-A-G p.Val330Val synonymous ACAT1 2 83288 2.40131E-5 41644 0 6.50872E-5
11-108014767-C-T p.Ala333Val missense ACAT1 1 83320 1.20019E-5 41660 0 NA
11-108014772-A-G p.Met335Val missense+splice_region ACAT1 2 83310 2.40067E-5 41655 0 6.45703E-5
11-108014948-A-C n.674A>C splice_region ACAT1 1 69738 1.43394E-5 34869 0 NA
11-108016923-T-A c.1006-6T>A splice_region ACAT1 1 82944 1.20563E-5 41472 0 NA
11-108016927-A-C c.1006-2A>C splice_acceptor ACAT1 4 83026 4.81777E-5 41513 0 3.30115E-5
11-108016941-G-A p.Val340Met missense ACAT1 1 83222 1.20161E-5 41611 0 NA
11-108016944-G-T p.Gly341* stop_gained ACAT1 1 83230 1.20149E-5 41615 0 NA
11-108016944-GGATT-CGTTG p.GlyLeu341ArgTrp missense ACAT1 1 83230 1.20149E-5 41615 0 NA
11-108016951-A-G p.Lys343Arg missense ACAT1 1 83256 1.20111E-5 41628 0 8.35774E-5
11-108016953-AAAG-A p.Glu345del disruptive_inframe_deletion ACAT1 3 83258 3.60326E-5 41629 0 7.95849E-6
11-108016957-A-G p.Glu345Gly missense ACAT1 1 83278 1.2008E-5 41639 0 7.95881E-6
11-108016960-A-G p.Asp346Gly missense ACAT1 1 83282 1.20074E-5 41641 0 NA
11-108016991-T-C p.Phe356Phe synonymous ACAT1 96 83308 0.00115235 41654 0 0.00296122
11-108017004-C-T p.Leu361Leu synonymous ACAT1 3 83306 3.60118E-5 41653 0 8.24103E-6
11-108017019-A-G p.Met366Val missense ACAT1 1 83304 1.20042E-5 41652 0 3.9782E-6
11-108017029-T-C p.Ile369Thr missense ACAT1 1 83294 1.20057E-5 41647 0 8.24198E-6
11-108017039-A-G p.Gln372Gln synonymous ACAT1 1 83302 1.20045E-5 41651 0 8.24239E-6
11-108017047-A-G p.Asn375Ser missense ACAT1 2 83298 2.40102E-5 41649 0 3.29728E-5
11-108017070-C-T p.Leu383Leu synonymous ACAT1 2 83268 2.40188E-5 41634 0 NA
11-108017083-T-A p.Ile387Asn missense ACAT1 1 83264 1.201E-5 41632 0 8.25409E-6
11-108017087-G-GATGTCTGGAGCCAGGATTGTTGGTCATTTGAC c.1163+1_1163+2insATGTCTGGAGCCAGGATTGTTGGTCATTTGAC splice_donor ACAT1 2 83250 2.4024E-5 41625 0 NA
11-108017087-G-GA c.1163+1_1163+2insA splice_donor ACAT1 1 83248 1.20123E-5 41624 0 NA
11-108017087-G-A c.1163+1G>A splice_donor ACAT1 2 83250 2.4024E-5 41625 0 3.18573E-5
11-108018008-C-T p.Ala392Val missense ACAT1 1 83332 1.20002E-5 41666 0 NA
11-108018022-C-G p.His397Asp missense ACAT1 1 83334 1.19999E-5 41667 0 NA
11-108018022-C-A p.His397Asn missense ACAT1 1 83334 1.19999E-5 41667 0 2.47341E-5
11-108018031-C-T p.His400Tyr missense ACAT1 17 83324 2.04023E-4 41662 0 0.00125
11-108018033-T-C p.His400His synonymous ACAT1 1 83320 1.20019E-5 41660 0 7.95564E-6
11-108018042-G-A p.Lys403Lys synonymous ACAT1 2 83320 2.40038E-5 41660 0 5.17129E-5
11-108018046-G-A p.Gly405Arg missense ACAT1 1 83314 1.20028E-5 41657 0 NA
11-108018050-A-G p.Glu406Gly missense ACAT1 25 83316 3.00062E-4 41658 0 3.18654E-4
11-108018052-T-C p.Tyr407His missense ACAT1 1 83312 1.20031E-5 41656 0 NA
11-108018054-C-T p.Tyr407Tyr synonymous ACAT1 2 83306 2.40079E-5 41653 0 6.76353E-5
11-108018055-G-A p.Gly408Ser missense ACAT1 1 83300 1.20048E-5 41650 0 8.23913E-6
11-108018056-G-T p.Gly408Val missense ACAT1 1 83308 1.20036E-5 41654 0 NA
11-108018057-T-C p.Gly408Gly synonymous ACAT1 1 83308 1.20036E-5 41654 0 3.97788E-6
11-108018062-C-T p.Ala410Val missense ACAT1 1 83312 1.20031E-5 41656 0 6.37105E-5
11-108018077-G-C p.Gly415Ala missense ACAT1 1 83266 1.20097E-5 41633 0 NA
11-108018094-G-A p.Ala421Thr missense ACAT1 1 83206 1.20184E-5 41603 0 8.23818E-6
11-108018098-T-C p.Met422Thr missense ACAT1 1 83194 1.20201E-5 41597 0 NA
11-108018112-C-A p.Leu427Met missense ACAT1 3 83162 3.60742E-5 41581 0 4.37996E-5
11-108018114-G-A p.Leu427Leu synonymous ACAT1 1 83158 1.20253E-5 41579 0 NA