Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-151451807-C-A c.-17C>A 5_prime_UTR_premature_start_codon_gain AADACL2 3 83078 3.61106E-5 41539 0 6.12545E-5
3-151451825-T-C p.Met1? start_lost AADACL2 1 83178 1.20224E-5 41589 0 2.88534E-5
3-151451825-TG-T p.Leu3fs frameshift AADACL2 1 83178 1.20224E-5 41589 0 NA
3-151451826-G-A p.Met1? start_lost AADACL2 1 83180 1.20221E-5 41590 0 NA
3-151451832-A-G p.Leu3Leu synonymous AADACL2 1 83202 1.20189E-5 41601 0 NA
3-151451832-A-C p.Leu3Leu synonymous AADACL2 1 83202 1.20189E-5 41601 0 NA
3-151451836-G-A p.Ala5Thr missense AADACL2 1 83202 1.20189E-5 41601 0 NA
3-151451841-CTGTT-C p.Cys7fs frameshift AADACL2 1 83222 1.20161E-5 41611 0 4.02499E-6
3-151451876-A-C p.His18Pro missense AADACL2 1 83208 1.20181E-5 41604 0 6.37714E-5
3-151451903-T-C p.Ile27Thr missense AADACL2 1 83164 1.20244E-5 41582 0 6.3678E-5
3-151451906-A-G p.Glu28Gly missense AADACL2 1 83156 1.20256E-5 41578 0 NA
3-151451924-T-C p.Met34Thr missense AADACL2 1 83084 1.2036E-5 41542 0 3.98667E-6
3-151451930-T-C p.Leu36Ser missense AADACL2 1 83070 1.2038E-5 41535 0 3.98791E-6
3-151451934-TG-AT p.AspAla37GluSer missense AADACL2 1 83056 1.20401E-5 41528 0 NA
3-151451935-G-A p.Ala38Thr missense AADACL2 1 83040 1.20424E-5 41520 0 NA
3-151451940-C-T p.Ile39Ile synonymous AADACL2 3 83010 3.61402E-5 41505 0 3.35965E-5
3-151451944-A-G p.Lys41Glu missense AADACL2 1 82988 1.20499E-5 41494 0 NA
3-151451948-C-T p.Thr42Ile missense AADACL2 2 82996 2.40975E-5 41498 0 3.18552E-5
3-151451960-C-A p.Thr46Lys missense+splice_region AADACL2 2 82932 2.41161E-5 41466 0 NA
3-151451960-C-T p.Thr46Met missense+splice_region AADACL2 4 82932 4.82323E-5 41466 0 4.35335E-5
3-151451961-G-A p.Thr46Thr splice_region+synonymous AADACL2 3 82900 3.61882E-5 41450 0 0.00100705
3-151458436-T-C p.Ala47Ala splice_region+synonymous AADACL2 2 82438 2.42607E-5 41219 0 6.37186E-5
3-151458444-T-C p.Phe50Ser missense AADACL2 4 82552 4.84543E-5 41276 0 1.68549E-5
3-151458449-A-G p.Asn52Asp missense AADACL2 20 82596 2.42142E-4 41298 0 6.4062E-5
3-151458451-T-C p.Asn52Asn synonymous AADACL2 1 82628 1.21024E-5 41314 0 8.00461E-6
3-151458456-G-A p.Arg54His missense AADACL2 169 82750 0.0020423 41375 2 0.00440163
3-151458464-A-C p.Arg57Arg synonymous AADACL2 1 82876 1.20662E-5 41438 0 NA
3-151458464-A-T p.Arg57* stop_gained AADACL2 1 82876 1.20662E-5 41438 0 3.99116E-6
3-151458487-G-C p.Met64Ile missense AADACL2 5 83066 6.01931E-5 41533 0 4.37968E-5
3-151458489-T-C p.Ile65Thr missense AADACL2 1 83052 1.20406E-5 41526 0 NA
3-151458508-C-A p.Thr71Thr synonymous AADACL2 6 83050 7.22456E-5 41525 0 3.18499E-5
3-151458508-C-T p.Thr71Thr synonymous AADACL2 1 83050 1.20409E-5 41525 0 NA
3-151458515-C-G p.Leu74Val missense AADACL2 1 83022 1.2045E-5 41511 0 3.18532E-5
3-151458518-T-C p.Ser75Pro missense AADACL2 3 83034 3.61298E-5 41517 0 6.59805E-5
3-151458526-A-G p.Glu77Glu synonymous AADACL2 1 83044 1.20418E-5 41522 0 NA
3-151458527-T-C p.Tyr78His missense AADACL2 7 83046 8.42906E-5 41523 0 1.59286E-4
3-151458546-C-G p.Thr84Arg missense AADACL2 1 83044 1.20418E-5 41522 0 6.37308E-5
3-151458550-A-G p.Thr85Thr synonymous AADACL2 4 83070 4.81522E-5 41535 0 8.24498E-6
3-151458560-A-G p.Ile89Val missense AADACL2 47 83086 5.65679E-4 41543 1 3.74168E-4
3-151458563-CCAGTACGAT-C p.Pro90_Arg92del disruptive_inframe_deletion AADACL2 1 83084 1.2036E-5 41542 0 8.24457E-6
3-151458569-C-A p.Arg92Arg synonymous AADACL2 1 83086 1.20357E-5 41543 0 8.24375E-6
3-151458574-GT-G p.Tyr94fs frameshift AADACL2 1 83102 1.20334E-5 41551 0 8.24362E-6
3-151458580-G-C p.Leu95Phe missense AADACL2 2 83118 2.40622E-5 41559 0 8.24348E-6
3-151458584-A-C p.Lys97Gln missense AADACL2 1 83138 1.20282E-5 41569 0 NA
3-151458589-A-G p.Arg98Arg synonymous AADACL2 1 83150 1.20265E-5 41575 0 3.18492E-5
3-151458593-T-C p.Ser100Pro missense AADACL2 4 83156 4.81024E-5 41578 0 1.59193E-5
3-151458594-C-T p.Ser100Leu missense AADACL2 1 83148 1.20267E-5 41574 0 NA
3-151458596-G-A p.Glu101Lys missense AADACL2 1 83158 1.20253E-5 41579 0 NA
3-151458598-A-C p.Glu101Asp missense AADACL2 7 83160 8.41751E-5 41580 0 NA
3-151458602-C-T p.Arg103* stop_gained AADACL2 2 83154 2.40518E-5 41577 0 6.25E-4
3-151458603-G-A p.Arg103Gln missense AADACL2 2 83164 2.40489E-5 41582 0 3.18695E-5
3-151458608-C-T p.Arg105* stop_gained AADACL2 4 83156 4.81024E-5 41578 0 2.78594E-5
3-151458609-G-A p.Arg105Gln missense AADACL2 26 83168 3.1262E-4 41584 0 0.001875
3-151458616-G-C p.Val107Val synonymous AADACL2 3 83172 3.60698E-5 41586 0 1.194E-5
3-151458621-A-G p.Tyr109Cys missense AADACL2 98 83166 0.00117837 41583 0 0.001875
3-151458626-C-G p.His111Asp missense AADACL2 78 83138 9.38199E-4 41569 1 5.03525E-4
3-151458627-A-G p.His111Arg missense AADACL2 1 83140 1.20279E-5 41570 0 NA
3-151458631-T-C p.Gly112Gly synonymous AADACL2 2 83126 2.40599E-5 41563 0 5.77262E-5
3-151458632-G-A p.Gly113Ser missense AADACL2 2 83122 2.4061E-5 41561 0 8.24633E-6
3-151458636-G-GT p.Cys116fs frameshift AADACL2 1 83126 1.20299E-5 41563 0 9.55901E-5
3-151458653-T-C p.Ser120Pro missense AADACL2 1 83032 1.20435E-5 41516 0 3.98349E-6
3-151461886-A-G p.Arg123Gly missense AADACL2 1 83068 1.20383E-5 41534 0 3.30017E-5
3-151461890-C-T p.Ala124Val missense AADACL2 3 83110 3.60967E-5 41555 0 6.25E-4
3-151461914-C-T p.Thr132Met missense AADACL2 3 83180 3.60664E-5 41590 0 9.55657E-5
3-151461915-G-A p.Thr132Thr synonymous AADACL2 2 83184 2.40431E-5 41592 0 6.25E-4
3-151461918-A-G p.Ala133Ala synonymous AADACL2 1 83186 1.20213E-5 41593 0 NA
3-151461925-C-T p.Leu136Phe missense AADACL2 5 83176 6.01135E-5 41588 0 3.62845E-4
3-151461944-G-A p.Gly142Asp missense AADACL2 1 83138 1.20282E-5 41569 0 NA
3-151461945-C-T p.Gly142Gly synonymous AADACL2 1 83130 1.20294E-5 41565 0 1.9904E-5
3-151461946-G-A p.Val143Met missense AADACL2 2 83132 2.40581E-5 41566 0 2.47488E-5
3-151463291-T-G c.432-6T>G splice_region AADACL2 1 82104 1.21797E-5 41052 0 NA
3-151463307-G-A p.Ala148Thr missense AADACL2 3 82426 3.63963E-5 41213 0 6.37308E-5
3-151463310-C-G p.Pro149Ala missense AADACL2 2 82470 2.42512E-5 41235 0 1.6022E-5
3-151463331-C-G p.Gln156Glu missense AADACL2 1 82538 1.21156E-5 41269 0 NA
3-151463352-G-C p.Ala163Pro missense AADACL2 1 82640 1.21007E-5 41320 0 NA
3-151463355-G-A p.Val164Ile missense AADACL2 1 82654 1.20986E-5 41327 0 3.18593E-5
3-151463366-T-C p.Phe167Phe synonymous AADACL2 1 82716 1.20896E-5 41358 0 NA
3-151463392-A-G p.Tyr176Cys missense AADACL2 1 82828 1.20732E-5 41414 0 1.59594E-5
3-151463393-T-C p.Tyr176Tyr synonymous AADACL2 1 82822 1.20741E-5 41411 0 NA
3-151463395-G-T p.Gly177Val missense AADACL2 1 82816 1.2075E-5 41408 0 NA
3-151463403-C-T p.Pro180Ser missense AADACL2 2 82784 2.41593E-5 41392 0 5.77825E-5
3-151463409-C-T p.Arg182* stop_gained AADACL2 8 82762 9.66627E-5 41381 0 4.79697E-5
3-151463409-C-A p.Arg182Arg synonymous AADACL2 2 82762 2.41657E-5 41381 0 1.6512E-5
3-151463410-G-A p.Arg182Gln missense AADACL2 1 82788 1.2079E-5 41394 0 9.0822E-5
3-151463417-C-T p.Cys184Cys synonymous AADACL2 2 82808 2.41523E-5 41404 0 2.39992E-5
3-151463421-G-T p.Ala186Ser missense AADACL2 54871 81468 0.673528 40734 18606 0.69924
3-151463422-C-T p.Ala186Val missense AADACL2 2 82806 2.41528E-5 41403 0 5.04032E-4
3-151463423-G-A p.Ala186Ala synonymous AADACL2 13 82806 1.56993E-4 41403 0 6.25E-4
3-151463455-C-T p.Ala197Val missense AADACL2 1 82718 1.20893E-5 41359 0 1.22254E-5
3-151463456-G-A p.Ala197Ala synonymous AADACL2 3 82732 3.62617E-5 41366 0 2.49381E-5
3-151463468-G-A p.Gln201Gln splice_region+synonymous AADACL2 1 82538 1.21156E-5 41269 0 4.40501E-6
3-151463472-C-T c.603+4C>T splice_region AADACL2 1 82438 1.21303E-5 41219 0 1.77934E-5
3-151474791-T-C p.Asp205Asp synonymous AADACL2 1 82292 1.21518E-5 41146 0 NA
3-151474799-T-C p.Ile208Thr missense AADACL2 3 82414 3.64016E-5 41207 0 NA
3-151474819-C-T p.Gln215* stop_gained AADACL2 1 82592 1.21077E-5 41296 0 8.29999E-6
3-151474819-C-G p.Gln215Glu missense AADACL2 1 82592 1.21077E-5 41296 0 4.03145E-6
3-151474821-A-C p.Gln215His missense AADACL2 1 82628 1.21024E-5 41314 0 NA
3-151474844-A-C p.Gln223Pro missense AADACL2 1 82874 1.20665E-5 41437 0 3.18674E-5
3-151474850-C-T p.Thr225Ile missense AADACL2 2 82880 2.41313E-5 41440 0 7.97633E-6
3-151474856-CT-C p.Tyr228fs frameshift AADACL2 9 82922 1.08536E-4 41461 0 5.03525E-4
3-151474857-T-G p.Ser227Ser synonymous AADACL2 1 82924 1.20592E-5 41462 0 NA
3-151474858-T-G p.Tyr228Asp missense AADACL2 3 82930 3.61751E-5 41465 0 1.27584E-4
3-151474869-T-G p.Ser231Ser synonymous AADACL2 1 82972 1.20523E-5 41486 0 8.24756E-6
3-151474873-C-T p.Arg233* stop_gained AADACL2 2 82962 2.41074E-5 41481 0 7.57081E-5
3-151474874-G-A p.Arg233Gln missense AADACL2 1 82978 1.20514E-5 41489 0 3.19142E-5
3-151474888-G-A p.Gly238Ser missense AADACL2 2 83044 2.40836E-5 41522 0 NA
3-151474889-G-C p.Gly238Ala missense AADACL2 1 83040 1.20424E-5 41520 0 NA
3-151474889-G-T p.Gly238Val missense AADACL2 2 83040 2.40848E-5 41520 0 8.24661E-6
3-151474901-C-T p.Thr242Ile missense AADACL2 1 83058 1.20398E-5 41529 0 3.19326E-5
3-151474905-G-A p.Arg243Arg synonymous AADACL2 1 83058 1.20398E-5 41529 0 NA
3-151474908-T-C p.Asp244Asp synonymous AADACL2 1 83062 1.20392E-5 41531 0 NA
3-151474908-T-A p.Asp244Glu missense AADACL2 1 83062 1.20392E-5 41531 0 NA
3-151474909-G-A p.Val245Ile missense AADACL2 1 83074 1.20375E-5 41537 0 NA
3-151474909-G-GTT p.Ala246fs frameshift AADACL2 1 83074 1.20375E-5 41537 0 NA
3-151474916-TA-T p.Lys248fs frameshift AADACL2 1 83052 1.20406E-5 41526 0 NA
3-151474917-A-C p.Ile247Ile synonymous AADACL2 1 83048 1.20412E-5 41524 0 8.24457E-6
3-151474918-A-ATTATTTTTATAATATTTATAAT p.Lys248fs frameshift AADACL2 1 83054 1.20404E-5 41527 0 NA
3-151474924-G-A p.Val250Met missense AADACL2 5 83054 6.02018E-5 41527 0 3.98181E-5
3-151474926-G-A p.Val250Val synonymous AADACL2 3 83072 3.61133E-5 41536 0 3.18535E-5
3-151474932-A-G p.Leu252Leu synonymous AADACL2 1 83074 1.20375E-5 41537 0 0.00100705
3-151474939-A-C p.Thr255Pro missense AADACL2 3 83074 3.61124E-5 41537 0 4.77795E-5
3-151474951-G-T p.Ala259Ser missense AADACL2 17 83072 2.04642E-4 41536 0 0.00125
3-151474954-C-T p.Leu260Phe missense AADACL2 79 83076 9.50937E-4 41538 0 0.00151057
3-151474981-C-T p.His269Tyr missense AADACL2 6 83086 7.22143E-5 41543 0 9.55718E-5
3-151474996-TCAAGA-T p.Arg275fs frameshift AADACL2 1 83072 1.20378E-5 41536 0 NA
3-151475001-A-G p.Arg275Arg synonymous AADACL2 1 83062 1.20392E-5 41531 0 0.00125
3-151475029-A-G p.Ile285Val missense AADACL2 1 83020 1.20453E-5 41510 0 NA
3-151475032-C-A p.Leu286Ile missense AADACL2 3 83000 3.61446E-5 41500 0 NA
3-151475043-G-A p.Glu289Glu synonymous AADACL2 1 82972 1.20523E-5 41486 0 NA
3-151475046-G-A p.Lys290Lys synonymous AADACL2 2 82962 2.41074E-5 41481 0 6.05173E-4
3-151475061-T-C p.Tyr295Tyr synonymous AADACL2 3 82892 3.61917E-5 41446 0 6.37024E-5
3-151475063-T-C p.Val296Ala missense AADACL2 14 82890 1.68899E-4 41445 0 NA
3-151475068-A-G p.Thr298Ala missense AADACL2 3 82852 3.62091E-5 41426 0 3.18451E-5
3-151475077-A-G p.Ile301Val missense AADACL2 1 82806 1.20764E-5 41403 0 3.98835E-6
3-151475098-T-C p.Ser308Pro missense AADACL2 1 82750 1.20846E-5 41375 0 1.19571E-5
3-151475116-G-C p.Asp314His missense AADACL2 1 82734 1.20869E-5 41367 0 NA
3-151475136-G-T p.Leu320Phe missense AADACL2 1 82690 1.20934E-5 41345 0 3.18532E-5
3-151475136-G-C p.Leu320Phe missense AADACL2 2 82690 2.41867E-5 41345 0 3.18532E-5
3-151475139-G-A p.Leu321Leu synonymous AADACL2 1 82680 1.20948E-5 41340 0 NA
3-151475143-A-G p.Asn323Asp missense AADACL2 2 82666 2.41937E-5 41333 0 NA
3-151475146-G-A p.Asp324Asn missense AADACL2 1 82666 1.20969E-5 41333 0 NA
3-151475152-C-T p.Gln326* stop_gained AADACL2 1 82616 1.21042E-5 41308 0 3.58629E-5
3-151475181-T-G p.Ile335Met missense AADACL2 8 82638 9.68078E-5 41319 0 1.59404E-5
3-151475193-A-T p.Gln339His missense AADACL2 1 82658 1.2098E-5 41329 0 NA
3-151475202-C-CT p.Leu343fs frameshift AADACL2 1 82654 1.20986E-5 41327 0 NA
3-151475218-C-CTTAT p.Met349fs frameshift AADACL2 1 82698 1.20922E-5 41349 0 NA
3-151475226-T-A p.Tyr350* stop_gained AADACL2 1 82730 1.20875E-5 41365 0 8.2462E-6
3-151475231-C-G p.Thr352Arg missense AADACL2 3 82740 3.62582E-5 41370 0 3.2987E-5
3-151475236-C-T p.Leu354Phe missense AADACL2 1 82748 1.20849E-5 41374 0 NA
3-151475239-C-T p.Arg355* stop_gained AADACL2 2 82746 2.41704E-5 41373 0 3.29875E-5
3-151475240-G-T p.Arg355Leu missense AADACL2 3 82760 3.62494E-5 41380 0 0.00100705
3-151475247-T-G p.Val357Val synonymous AADACL2 1 82784 1.20796E-5 41392 0 NA
3-151475260-GTTCATGAACATATTGAGGATGGAATTC-G p.Val362_His371delinsAsp disruptive_inframe_deletion AADACL2 1 82802 1.2077E-5 41401 0 NA
3-151475260-G-T p.Val362Phe missense AADACL2 2 82802 2.4154E-5 41401 0 NA
3-151475269-C-T p.His365Tyr missense AADACL2 1 82830 1.20729E-5 41415 0 NA
3-151475276-A-C p.Glu367Ala missense AADACL2 1 82830 1.20729E-5 41415 0 NA
3-151475277-G-A p.Glu367Glu synonymous AADACL2 1 82830 1.20729E-5 41415 0 NA
3-151475301-A-G p.Ser375Ser synonymous AADACL2 1 82850 1.207E-5 41425 0 1.65106E-5
3-151475305-A-C p.Met377Leu missense AADACL2 1 82850 1.207E-5 41425 0 NA
3-151475310-T-A p.Thr378Thr synonymous AADACL2 2 82838 2.41435E-5 41419 0 5.03525E-4
3-151475311-T-A p.Ser379Thr missense AADACL2 11 82842 1.32783E-4 41421 0 1.59205E-4
3-151475317-T-G p.Phe381Val missense AADACL2 2 82860 2.41371E-5 41430 0 NA
3-151475322-T-A p.Tyr382* stop_gained AADACL2 1 82854 1.20694E-5 41427 0 NA
3-151475326-C-T p.Arg384Cys missense AADACL2 6 82842 7.2427E-5 41421 0 3.18552E-5
3-151475327-G-A p.Arg384His missense AADACL2 16 82840 1.93143E-4 41420 0 1.15954E-4
3-151475336-T-A p.Leu387His missense AADACL2 1 82854 1.20694E-5 41427 0 6.64794E-5
3-151475340-G-A p.Arg388Arg synonymous AADACL2 1 82842 1.20712E-5 41421 0 NA
3-151475350-A-G p.Met392Val missense AADACL2 1 82846 1.20706E-5 41423 0 3.99837E-6
3-151475368-G-T p.Asp398Tyr missense AADACL2 1 82768 1.2082E-5 41384 0 NA
3-151475375-AT-A p.Leu401fs frameshift AADACL2 2 82718 2.41785E-5 41359 0 4.09695E-6
3-151475379-A-G p.Leu401Leu synonymous AADACL2 2 82700 2.41838E-5 41350 0 8.65456E-6