Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-6297074-G-A p.Leu116Leu synonymous AIPL1 1 958 0.00104384 479 0 9.24038E-4
17-6297090-T-C p.Gly110Gly synonymous AIPL1 2 960 0.00208333 480 0 0.125
17-6328624-A-ATTGTT c.*1277_*1281dupAACAA splice_region AIPL1 5 61194 8.17074E-5 30597 0 9.993E-5
17-6328624-ATTG-A c.*1279_*1281delCAA splice_region AIPL1 1 61204 1.63388E-5 30602 0 NA
17-6328625-TTG-T c.*1279_*1280delCA splice_region AIPL1 1 61450 1.62734E-5 30725 0 5.45137E-5
17-6328625-T-G c.*1281A>C splice_region AIPL1 1 61454 1.62723E-5 30727 0 NA
17-6328627-G-T c.*1279C>A splice_region AIPL1 2 61140 3.27118E-5 30570 0 NA
17-6328727-G-A c.*53C>T splice_region AIPL1 221 82264 0.00268647 41132 0 0.00159693
17-6328798-C-T p.Gly316Gly synonymous AIPL1 1 82246 1.21586E-5 41123 0 NA
17-6328807-C-T p.Pro313Pro synonymous AIPL1 1 81954 1.2202E-5 40977 0 NA
17-6328807-C-CG p.Ser314fs frameshift AIPL1 1 81954 1.2202E-5 40977 0 8.52311E-6
17-6328808-G-A p.Pro313Leu missense AIPL1 1 81960 1.22011E-5 40980 0 6.25E-4
17-6328809-G-A p.Pro313Ser missense AIPL1 721 81938 0.00879934 40969 16 0.017476
17-6328812-G-GTGGCTCTGTGGC p.Pro311_Pro312insAlaThrGluPro conservative_inframe_insertion AIPL1 13 81922 1.58688E-4 40961 0 4.14911E-4
17-6328827-G-A p.Pro307Ser missense AIPL1 33 81710 4.03867E-4 40855 0 3.10637E-4
17-6328845-C-A p.Ala301Ser missense AIPL1 8 81760 9.78474E-5 40880 0 6.25E-4
17-6328845-C-T p.Ala301Thr missense AIPL1 1 81760 1.22309E-5 40880 0 1.00088E-4
17-6328847-G-A p.Ser300Phe missense AIPL1 1 81858 1.22163E-5 40929 0 NA
17-6328858-A-G p.Ser296Ser synonymous AIPL1 1 82086 1.21823E-5 41043 0 NA
17-6328860-A-G p.Ser296Pro missense AIPL1 7 82120 8.52411E-5 41060 0 6.80425E-5
17-6328869-T-TGGGTGGCTCTGC p.Pro292_Thr293insAlaGluProPro conservative_inframe_insertion AIPL1 18 82292 2.18733E-4 41146 0 7.46021E-5
17-6328870-GGGTGGCTCTGCA-G p.Ala289_Pro292del disruptive_inframe_deletion AIPL1 139 82312 0.0016887 41156 2 8.71582E-4
17-6328877-T-C p.Glu290Gly missense AIPL1 2 82354 2.42854E-5 41177 0 NA
17-6328881-C-T p.Ala289Thr missense AIPL1 4 82372 4.85602E-5 41186 0 4.14408E-5
17-6328882-A-AGGTGGCTCTGTGGATGACTGTGCG p.Pro288_Ala289insAlaGlnSerSerThrGluProPro disruptive_inframe_insertion AIPL1 2 82404 2.42707E-5 41202 0 3.99348E-6
17-6328888-C-T p.Glu286Glu synonymous AIPL1 18 82414 2.18409E-4 41207 0 1.91926E-4
17-6328905-C-G p.Ala281Pro missense AIPL1 1 82478 1.21244E-5 41239 0 3.99182E-6
17-6328905-C-T p.Ala281Thr missense AIPL1 1 82478 1.21244E-5 41239 0 NA
17-6328905-CGGGTGGCTCTGT-C p.Thr277_Pro280del conservative_inframe_deletion AIPL1 1 82478 1.21244E-5 41239 0 NA
17-6328907-G-A p.Pro280Leu missense AIPL1 6 82538 7.26938E-5 41269 0 4.38904E-5
17-6328929-C-T p.Ala273Thr missense AIPL1 214 82472 0.00259482 41236 0 0.0040282
17-6328930-G-A p.Pro272Pro synonymous AIPL1 1 82514 1.21192E-5 41257 0 9.18927E-5
17-6328940-G-T p.Thr269Lys missense AIPL1 5 82406 6.06752E-5 41203 1 NA
17-6328943-G-C p.Ala268Gly missense AIPL1 2 82358 2.42842E-5 41179 0 NA
17-6328950-G-A p.Gln266* stop_gained AIPL1 1 82388 1.21377E-5 41194 0 4.0059E-6
17-6328964-C-A p.Arg261Leu missense AIPL1 435 82076 0.00529997 41038 1 0.00384634
17-6328964-C-T p.Arg261Gln missense AIPL1 2 82078 2.43671E-5 41039 0 1.07532E-4
17-6328965-G-T p.Arg261Arg synonymous AIPL1 4 82074 4.87365E-5 41037 0 1.61085E-5
17-6328966-G-A p.Cys260Cys synonymous AIPL1 2 81932 2.44105E-5 40966 0 1.65451E-5
17-6328970-C-G p.Arg259Pro missense AIPL1 1 81852 1.22172E-5 40926 0 8.27828E-6
17-6328971-G-A p.Arg259Cys missense AIPL1 2 81810 2.44469E-5 40905 0 3.23034E-5
17-6328976-C-T p.Arg257Gln missense AIPL1 2 81904 2.44188E-5 40952 0 8.27842E-6
17-6328977-G-A p.Arg257Trp missense AIPL1 2 81790 2.44529E-5 40895 0 3.19122E-5
17-6328985-T-C p.Glu254Gly missense AIPL1 3 81808 3.66712E-5 40904 0 8.28226E-6
17-6328997-G-A p.Ala250Val missense AIPL1 1 81494 1.22708E-5 40747 0 6.37674E-5
17-6328997-G-GC p.Ala250fs frameshift AIPL1 1 81494 1.22708E-5 40747 0 NA
17-6328998-C-A p.Ala250Ser missense AIPL1 234 81494 0.00287138 40747 5 0.00535475
17-6329004-G-A p.Arg248Cys missense AIPL1 1 81276 1.23038E-5 40638 0 3.18979E-5
17-6329017-C-T p.Arg243Arg synonymous AIPL1 1 80976 1.23493E-5 40488 0 NA
17-6329018-C-T p.Arg243Lys missense AIPL1 1 80996 1.23463E-5 40498 0 NA
17-6329019-T-C p.Arg243Gly missense AIPL1 2 80972 2.46999E-5 40486 0 3.18756E-5
17-6329020-C-G p.Leu242Leu synonymous AIPL1 3 80984 3.70444E-5 40492 0 1.27486E-4
17-6329025-C-G p.Glu241Gln missense AIPL1 2 80790 2.47555E-5 40395 0 6.12375E-5
17-6329030-C-A p.Arg239Leu missense AIPL1 211 80560 0.00261917 40280 1 0.01875
17-6329035-C-G p.Ala237Ala synonymous AIPL1 1 80526 1.24183E-5 40263 0 5.31276E-5
17-6329050-C-T p.Pro232Pro synonymous AIPL1 1 80180 1.24719E-5 40090 0 8.18163E-6
17-6329057-A-G p.Leu230Pro missense AIPL1 1 80012 1.24981E-5 40006 0 NA
17-6329067-C-G p.Val227Leu missense AIPL1 4 79878 5.00764E-5 39939 0 6.37267E-5
17-6329081-GC-TT p.Ala222Lys missense AIPL1 22 79608 2.76354E-4 39804 0 NA
17-6329081-G-T p.Ala222Glu missense AIPL1 3 79608 3.76847E-5 39804 0 0.00124362
17-6329082-C-T p.Ala222Thr missense AIPL1 3 79650 3.76648E-5 39825 0 0.00124283
17-6329085-T-TGGCCTC p.Ala220_Lys221insGluAla conservative_inframe_insertion AIPL1 1 79708 1.25458E-5 39854 0 NA
17-6329092-G-C p.Ala218Ala synonymous AIPL1 1 79646 1.25556E-5 39823 0 NA
17-6329095-C-G p.Glu217Asp missense AIPL1 1 79658 1.25537E-5 39829 0 NA
17-6329101-C-T p.Trp215* stop_gained AIPL1 34 79634 4.26953E-4 39817 0 3.82434E-4
17-6329107-C-G p.Glu213Asp missense AIPL1 1 79598 1.25631E-5 39799 0 3.18898E-5
17-6329113-G-A p.His211His synonymous AIPL1 2 79554 2.51402E-5 39777 0 8.2603E-6
17-6329122-G-A p.Ala208Ala synonymous AIPL1 1 79484 1.25811E-5 39742 0 7.03666E-5
17-6329125-A-G p.Arg207Arg synonymous AIPL1 1 79474 1.25827E-5 39737 0 2.48466E-5
17-6329139-C-A p.Ala203Ser missense AIPL1 8 79256 1.00939E-4 39628 0 6.8829E-5
17-6329145-C-G p.Val201Leu missense AIPL1 1 79086 1.26445E-5 39543 0 3.18878E-5
17-6329148-TGCCTGTGGGGAG-T p.Gly199fs frameshift AIPL1 1 79000 1.26582E-5 39500 0 NA
17-6329914-C-T p.Gly261Arg missense AIPL1 74 81174 9.11622E-4 40587 0 3.4927E-4
17-6329914-C-A p.Gly261* stop_gained AIPL1 2 81176 2.46378E-5 40588 0 NA
17-6329915-G-A p.Gly260Gly synonymous AIPL1 4 81152 4.92902E-5 40576 0 3.22865E-5
17-6329917-C-T p.Gly260Ser missense AIPL1 2515 81306 0.0309325 40653 111 0.0513262
17-6329918-C-T p.Arg259Arg synonymous AIPL1 1 81396 1.22856E-5 40698 0 NA
17-6329926-C-T p.Gly257Ser missense AIPL1 1 81746 1.2233E-5 40873 0 NA
17-6329931-G-A p.Ala255Val missense AIPL1 3 81874 3.66417E-5 40937 0 9.55901E-5
17-6329935-C-T p.Gly199Ser missense+splice_region AIPL1 1 82106 1.21794E-5 41053 0 4.32107E-5
17-6329939-G-A p.His197His synonymous AIPL1 44 82212 5.35202E-4 41106 0 7.01538E-4
17-6329942-G-A p.His196His synonymous AIPL1 1 82296 1.21513E-5 41148 0 NA
17-6329946-C-T p.Arg195Gln missense AIPL1 4 82416 4.85343E-5 41208 0 9.1651E-5
17-6329948-G-A p.Leu194Leu synonymous AIPL1 1 82518 1.21186E-5 41259 0 8.38068E-6
17-6329954-A-G p.Asp192Asp synonymous AIPL1 256 82666 0.0030968 41333 4 0.00608552
17-6329963-G-A p.His189His synonymous AIPL1 3 82832 3.62179E-5 41416 0 0.00156111
17-6329966-CT-TC p.Glu188Gly missense AIPL1 1 82868 1.20674E-5 41434 0 NA
17-6329973-A-G p.Val186Ala missense AIPL1 2 82956 2.41092E-5 41478 0 3.30611E-5
17-6329982-T-G p.Tyr183Ser missense AIPL1 39 83024 4.69744E-4 41512 0 6.25E-4
17-6330003-C-T p.Cys215Tyr missense+splice_region AIPL1 1 83088 1.20354E-5 41544 0 NA
17-6330020-G-A p.Ile170Ile synonymous AIPL1 2 83122 2.4061E-5 41561 0 NA
17-6330020-G-T p.Ile170Ile synonymous AIPL1 1 83122 1.20305E-5 41561 0 3.97753E-6
17-6330032-GATC-G p.Met165del disruptive_inframe_deletion AIPL1 1 83128 1.20296E-5 41564 0 NA
17-6330046-G-A p.Leu162Leu synonymous AIPL1 2 83084 2.4072E-5 41542 0 8.35475E-5
17-6330061-C-T p.Val157Met missense AIPL1 8 83016 9.6367E-5 41508 0 3.29587E-5
17-6330068-T-C p.Pro154Pro synonymous AIPL1 63037 82538 0.763733 41269 24113 0.862903
17-6330074-C-T p.Glu152Glu splice_region+synonymous AIPL1 1 82892 1.20639E-5 41446 0 7.964E-6
17-6330080-C-T c.454-4G>A splice_region AIPL1 2 82830 2.41458E-5 41415 0 8.24756E-6
17-6330081-C-T c.454-5G>A splice_region AIPL1 2 82820 2.41488E-5 41410 0 1.9916E-5
17-6330082-C-T c.454-6G>A splice_region AIPL1 1 82822 1.20741E-5 41411 0 NA
17-6330201-C-T p.Lys151Lys splice_region+synonymous AIPL1 1 83116 1.20314E-5 41558 0 3.1839E-5
17-6330212-G-C p.Leu148Val missense AIPL1 4 83216 4.80677E-5 41608 0 2.47333E-5
17-6330216-C-T p.Arg146Arg synonymous AIPL1 46 83222 5.52738E-4 41611 0 5.03525E-4
17-6330227-T-C p.Ile143Val missense AIPL1 6 83222 7.20963E-5 41611 0 1.97778E-4
17-6330245-T-TG p.Lys137fs frameshift AIPL1 1 83254 1.20114E-5 41627 0 NA
17-6330266-G-T p.Arg130Ser missense AIPL1 4 83276 4.8033E-5 41638 0 1.98821E-5
17-6330266-G-C p.Arg130Gly missense AIPL1 1 83276 1.20083E-5 41638 0 6.25E-4
17-6330271-A-G p.Leu128Pro missense AIPL1 1 83268 1.20094E-5 41634 0 5.03525E-4
17-6330272-G-T p.Leu128Met missense AIPL1 1 83272 1.20088E-5 41636 0 3.97636E-6
17-6330281-G-A p.Leu125Phe missense AIPL1 9 83288 1.08059E-4 41644 0 4.37411E-5
17-6330283-C-T p.Arg124Gln missense AIPL1 1 83288 1.20065E-5 41644 0 3.18512E-5
17-6330284-G-A p.Arg124Trp missense AIPL1 2 83292 2.40119E-5 41646 0 2.47113E-5
17-6330295-C-T p.Gly120Glu missense AIPL1 1 83288 1.20065E-5 41644 0 NA
17-6330297-G-T p.His119Gln missense AIPL1 1 83276 1.20083E-5 41638 0 3.18532E-5
17-6330300-G-T p.Leu118Leu synonymous AIPL1 4 83278 4.80319E-5 41639 0 1.98818E-5
17-6330306-G-A p.Pro116Pro synonymous AIPL1 1 83278 1.2008E-5 41639 0 8.2375E-6
17-6330312-C-T p.Ala114Ala synonymous AIPL1 2 83276 2.40165E-5 41638 0 1.98817E-5
17-6330313-G-A p.Ala114Val missense AIPL1 2 83268 2.40188E-5 41634 0 8.23764E-6
17-6330318-C-T p.Met112Ile missense AIPL1 1 83268 1.20094E-5 41634 0 1.19291E-5
17-6330327-A-G p.His109His synonymous AIPL1 200 83236 0.00240281 41618 0 0.00302721
17-6330328-T-C p.His109Arg missense AIPL1 3 83244 3.60386E-5 41622 0 3.18512E-5
17-6330337-A-G p.Leu106Pro missense AIPL1 1 83218 1.20166E-5 41609 0 NA
17-6330369-G-A p.Ala95Ala synonymous AIPL1 1 83112 1.2032E-5 41556 0 NA
17-6330384-C-T p.Trp157* stop_gained AIPL1 2 82980 2.41022E-5 41490 0 3.18532E-5
17-6330388-A-G p.Leu156Pro missense+splice_region AIPL1 1 82938 1.20572E-5 41469 0 NA
17-6330392-GCAGGT-G c.466-8_466-4delACCTG splice_region AIPL1 1 82862 1.20683E-5 41431 0 3.18492E-5
17-6331650-G-A p.Ile151Ile synonymous AIPL1 3 82412 3.64025E-5 41206 0 1.6559E-5
17-6331654-A-T p.Val150Glu missense AIPL1 1 82598 1.21068E-5 41299 0 8.27308E-6
17-6331666-G-A p.Pro146Leu missense AIPL1 4 82774 4.83244E-5 41387 0 NA
17-6331683-C-T p.Leu140Leu synonymous AIPL1 7 82974 8.43638E-5 41487 0 2.47705E-5
17-6331689-G-A p.Asp138Asp synonymous AIPL1 6 82978 7.23083E-5 41489 0 4.80488E-5
17-6331700-C-T p.Glu135Lys missense AIPL1 1 83026 1.20444E-5 41513 0 1.91083E-4
17-6331702-T-A p.Tyr134Phe missense AIPL1 322 83024 0.0038784 41512 1 0.00417616
17-6331711-G-A p.Thr131Met missense AIPL1 2 83064 2.40778E-5 41532 0 6.25E-4
17-6331719-G-A p.Ala128Ala synonymous AIPL1 2 83062 2.40784E-5 41531 0 1.65036E-5
17-6331720-G-A p.Ala128Val missense AIPL1 6 83056 7.22404E-5 41528 0 4.14118E-4
17-6331721-C-T p.Ala128Thr missense AIPL1 1 83030 1.20438E-5 41515 0 3.18593E-5
17-6331722-G-T p.Phe127Leu missense AIPL1 3 83044 3.61254E-5 41522 0 3.18654E-5
17-6331722-G-A p.Phe127Phe synonymous AIPL1 3 83044 3.61254E-5 41522 0 1.59683E-5
17-6331726-A-T p.Met126Lys missense AIPL1 7 83042 8.42947E-5 41521 0 6.38233E-5
17-6331727-T-C p.Met126Val missense AIPL1 1 83046 1.20415E-5 41523 0 NA
17-6331728-G-T p.Asn125Lys missense AIPL1 1 83044 1.20418E-5 41522 0 NA
17-6331739-C-T p.Gly122Arg missense AIPL1 1 83008 1.2047E-5 41504 0 NA
17-6331739-C-G p.Gly122Arg missense AIPL1 1 83008 1.2047E-5 41504 0 6.25E-4
17-6331740-G-A p.Cys121Cys synonymous AIPL1 2 82976 2.41034E-5 41488 0 3.18471E-5
17-6331743-C-T p.Thr120Thr synonymous AIPL1 4 82982 4.82032E-5 41491 0 6.36983E-5
17-6331744-G-A p.Thr120Met missense AIPL1 2 82976 2.41034E-5 41488 0 3.30158E-5
17-6331745-T-C p.Thr120Ala missense AIPL1 1 82984 1.20505E-5 41492 0 1.99297E-5
17-6331751-C-T p.Val118Met missense AIPL1 2 82956 2.41092E-5 41478 0 7.97003E-6
17-6331752-G-A p.His117His synonymous AIPL1 2 82950 2.41109E-5 41475 0 9.07815E-5
17-6331762-G-A p.Thr114Ile missense AIPL1 612 82866 0.00738542 41433 14 0.0163417
17-6331764-G-A p.Pro113Pro synonymous AIPL1 1 82914 1.20607E-5 41457 0 3.9827E-6
17-6331773-G-A p.Gly110Gly synonymous AIPL1 4 82816 4.82998E-5 41408 0 3.5848E-5
17-6331776-C-T p.Gln109Gln synonymous AIPL1 8 82816 9.65997E-5 41408 0 6.60088E-5
17-6331780-G-A p.Ala108Val missense AIPL1 22 82758 2.65835E-4 41379 0 3.8219E-4
17-6331781-C-A p.Ala108Ser missense AIPL1 1 82752 1.20843E-5 41376 0 3.18431E-5
17-6331785-C-T p.Gln106Gln synonymous AIPL1 70 82708 8.46351E-4 41354 0 0.00117864
17-6331798-C-T p.Arg102Gln missense AIPL1 6 82346 7.28633E-5 41173 0 0.00100705
17-6331799-G-T p.Arg102Arg synonymous AIPL1 2 82340 2.42895E-5 41170 0 3.98581E-6
17-6331799-G-C p.Arg102Gly missense AIPL1 1 82342 1.21445E-5 41171 0 8.25505E-6
17-6331799-G-A p.Arg102Trp missense AIPL1 1 82342 1.21445E-5 41171 0 6.37024E-5
17-6331802-A-G p.Ser101Pro missense AIPL1 1 82220 1.21625E-5 41110 0 NA
17-6331803-T-C p.Leu100Leu synonymous AIPL1 51134 78810 0.648826 39405 16805 0.756294
17-6331809-G-A p.Pro98Pro synonymous AIPL1 1 81956 1.22017E-5 40978 0 2.47893E-5
17-6331817-C-T p.Val96Ile missense AIPL1 1046 81350 0.012858 40675 16 0.0143077
17-6331821-C-T p.Thr94Thr synonymous AIPL1 2 81004 2.46901E-5 40502 0 3.18471E-5
17-6331822-G-A p.Thr94Met missense AIPL1 2 80944 2.47084E-5 40472 0 5.78675E-5
17-6331828-T-C c.*149-2A>G splice_acceptor AIPL1 4 80320 4.98008E-5 40160 0 9.55962E-5
17-6331828-T-G c.*149-2A>C splice_acceptor AIPL1 2 80320 2.49004E-5 40160 0 NA
17-6331832-G-A c.*149-6C>T splice_region AIPL1 1 79970 1.25047E-5 39985 0 NA
17-6337231-C-CT c.276+7_276+8insA splice_region AIPL1 4 82398 4.85449E-5 41199 0 4.04885E-6
17-6337236-T-TA c.276+2_276+3insT splice_donor AIPL1 3 82418 3.63998E-5 41209 0 NA
17-6337238-C-T c.276+1G>A splice_donor AIPL1 2 82488 2.4246E-5 41244 0 1.80509E-5
17-6337247-C-G p.Asp90His missense AIPL1 17090 82054 0.208277 41027 1884 0.287802
17-6337247-C-T p.Asp90Asn missense AIPL1 3 82670 3.62889E-5 41335 0 2.59117E-5
17-6337248-G-A p.Cys89Cys synonymous AIPL1 316 82678 0.00382206 41339 1 0.00441166
17-6337271-G-A p.His82Tyr missense AIPL1 51 82950 6.14828E-4 41475 0 0.00203913
17-6337273-A-T p.Val81Glu missense AIPL1 3 82948 3.61672E-5 41474 0 1.68362E-5
17-6337275-C-A p.Arg80Arg synonymous AIPL1 2 82974 2.41039E-5 41487 0 6.41519E-5
17-6337281-G-A p.Ser78Ser synonymous AIPL1 51 83020 6.1431E-4 41510 0 0.00604839
17-6337287-A-G p.Leu76Leu synonymous AIPL1 54 83064 6.50101E-4 41532 0 0.00236709
17-6337289-G-C p.Leu76Val missense AIPL1 1 83068 1.20383E-5 41534 0 NA
17-6337300-C-T p.Trp72* stop_gained AIPL1 2 83098 2.4068E-5 41549 0 3.98191E-6
17-6337308-G-C p.Leu69Leu synonymous AIPL1 1 83090 1.20351E-5 41545 0 NA
17-6337318-A-G p.Met66Thr missense AIPL1 1 83124 1.20302E-5 41562 0 NA
17-6337319-T-C p.Met66Val missense AIPL1 2 83116 2.40628E-5 41558 0 NA
17-6337325-C-T p.Gly64Arg missense AIPL1 1 83094 1.20346E-5 41547 0 1.19414E-5
17-6337357-C-T p.Arg53Gln missense AIPL1 7 83096 8.42399E-5 41548 0 3.18552E-5
17-6337358-G-A p.Arg53Trp missense AIPL1 4 83106 4.81313E-5 41553 0 6.37511E-5
17-6337365-G-A p.Asp50Asp synonymous AIPL1 1 83090 1.20351E-5 41545 0 7.16464E-5
17-6337375-G-C p.Thr47Arg missense AIPL1 176 83110 0.00211768 41555 4 0.0040282
17-6337378-C-T p.Arg46Gln missense AIPL1 2 83084 2.4072E-5 41542 0 4.17913E-5
17-6337378-C-G p.Arg46Pro missense AIPL1 7 83084 8.42521E-5 41542 0 1.99013E-5
17-6337379-G-T p.Arg46Arg synonymous AIPL1 1 83082 1.20363E-5 41541 0 3.98048E-6
17-6337385-C-T p.Glu44Lys missense AIPL1 1 83084 1.2036E-5 41542 0 NA
17-6337391-A-G p.Cys42Arg missense AIPL1 1 83062 1.20392E-5 41531 0 NA
17-6337398-G-T p.His59Asn missense AIPL1 3 83046 3.61246E-5 41523 0 1.91339E-4
17-6337402-C-T p.Arg38His missense AIPL1 2 83024 2.40894E-5 41512 0 2.5331E-5
17-6337403-G-A p.Arg38Cys missense AIPL1 4 83032 4.81742E-5 41516 0 3.98416E-5
17-6337404-G-A p.Pro57Ser missense AIPL1 1365 82946 0.0164565 41473 17 0.0219212
17-6337410-A-AAAGATCAC p.Phe35fs frameshift AIPL1 1 82976 1.20517E-5 41488 0 1.19528E-5
17-6337414-A-T p.Ile34Asn missense AIPL1 1 82922 1.20595E-5 41461 0 NA
17-6337417-A-G p.Val33Ala missense+splice_region AIPL1 50 82836 6.03602E-4 41418 0 0.00252016
17-6337417-A-C p.Val33Gly missense+splice_region AIPL1 5 82838 6.03588E-5 41419 0 9.58773E-5
17-6337421-A-T c.97-3T>A splice_region AIPL1 1 82810 1.20758E-5 41405 0 NA
17-6338265-GCAC-G c.154+3_154+5delGTG splice_region AIPL1 7 81552 8.58348E-5 40776 0 3.18817E-5
17-6338279-T-A p.Asn49Ile missense AIPL1 1 81756 1.22315E-5 40878 0 NA
17-6338284-A-G p.Ala47Ala synonymous AIPL1 1814 81748 0.0221901 40874 42 0.0357289
17-6338288-G-T p.Ala46Glu missense AIPL1 1 81832 1.22202E-5 40916 0 NA
17-6338289-C-T p.Ala46Thr missense AIPL1 87 81840 0.00106305 40920 0 0.00302644
17-6338291-G-GT p.Thr45fs frameshift AIPL1 2 81914 2.44159E-5 40957 0 8.83314E-6
17-6338292-TG-T p.Thr45fs frameshift AIPL1 48 81904 5.86052E-4 40952 0 0.00110874
17-6338293-G-A p.Pro44Pro synonymous AIPL1 1818 81894 0.0221994 40947 43 0.0339849
17-6338294-GG-AA p.Pro44Phe missense AIPL1 1 81940 1.22041E-5 40970 0 NA
17-6338297-G-A p.Ser43Phe missense AIPL1 8 81886 9.76968E-5 40943 0 2.86843E-4
17-6338299-C-A p.Gly42Gly synonymous AIPL1 49 81920 5.98145E-4 40960 0 0.00314465
17-6338317-G-A p.Ala36Ala synonymous AIPL1 1 82126 1.21764E-5 41063 0 NA
17-6338337-C-T p.Gly30Arg missense AIPL1 1 82520 1.21183E-5 41260 0 NA
17-6338359-G-A p.Gly22Gly synonymous AIPL1 2 82810 2.41517E-5 41405 0 6.25E-4
17-6338362-C-T p.Thr21Thr synonymous AIPL1 2 82836 2.41441E-5 41418 0 NA
17-6338363-G-A p.Thr21Met missense AIPL1 7 82864 8.44758E-5 41432 0 3.18552E-5
17-6338365-GC-G p.Gly20fs frameshift AIPL1 1 82920 1.20598E-5 41460 0 NA
17-6338374-C-T p.Leu17Leu synonymous AIPL1 4 83132 4.81162E-5 41566 0 1.19318E-5
17-6338377-A-T p.Ile16Ile synonymous AIPL1 1 83156 1.20256E-5 41578 0 8.24253E-6
17-6338380-G-C p.Thr15Thr synonymous AIPL1 1 83184 1.20215E-5 41592 0 NA
17-6338380-G-GT p.Ile16fs frameshift AIPL1 1 83184 1.20215E-5 41592 0 NA
17-6338387-T-C p.Lys13Arg missense AIPL1 1 83208 1.20181E-5 41604 0 NA
17-6338390-A-AC p.Val12fs frameshift AIPL1 1 83202 1.20189E-5 41601 0 3.1904E-5
17-6338392-C-G p.Gly11Gly synonymous AIPL1 4 83224 4.80631E-5 41612 0 1.5907E-5
17-6338406-G-A p.Leu7Leu synonymous AIPL1 1 83214 1.20172E-5 41607 0 NA
17-6338410-C-T p.Leu5Leu synonymous AIPL1 1 83204 1.20187E-5 41602 0 3.97684E-6
17-6338412-G-C p.Leu5Val missense AIPL1 1 83220 1.20163E-5 41610 0 NA
17-6338417-G-T p.Ala3Asp missense AIPL1 1 83216 1.20169E-5 41608 0 NA
17-6338441-G-C c.-17C>G 5_prime_UTR_premature_start_codon_gain AIPL1 1 83110 1.20322E-5 41555 0 NA
17-6338473-C-A c.-49G>T 5_prime_UTR_premature_start_codon_gain AIPL1 1 82420 1.2133E-5 41210 0 3.18573E-5
17-6338476-C-A c.-52G>T 5_prime_UTR_premature_start_codon_gain AIPL1 9 82214 1.0947E-4 41107 0 5.18135E-4
17-6338477-G-A c.-53C>T 5_prime_UTR_premature_start_codon_gain AIPL1 2 82142 2.43481E-5 41071 0 NA
17-6338480-G-C c.-56C>G 5_prime_UTR_premature_start_codon_gain AIPL1 2 82014 2.43861E-5 41007 0 NA
17-6338487-C-G c.-63G>C 5_prime_UTR_premature_start_codon_gain AIPL1 1 81592 1.22561E-5 40796 0 NA
17-6338487-C-T c.-63G>A 5_prime_UTR_premature_start_codon_gain AIPL1 1 81592 1.22561E-5 40796 0 NA
17-6338488-T-A c.-64A>T 5_prime_UTR_premature_start_codon_gain AIPL1 1 81538 1.22642E-5 40769 0 NA