Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-12776160-C-T c.-184C>T 5_prime_UTR_premature_start_codon_gain AADACL3 4 74258 5.38662E-5 37129 0 NA
1-12776195-C-T c.-149C>T 5_prime_UTR_premature_start_codon_gain AADACL3 1 77798 1.28538E-5 38899 0 3.1839E-5
1-12776206-C-T c.-138C>T 5_prime_UTR_premature_start_codon_gain AADACL3 2 78862 2.53608E-5 39431 0 NA
1-12776219-G-A c.-125G>A 5_prime_UTR_premature_start_codon_gain AADACL3 2 80422 2.48688E-5 40211 0 NA
1-12776270-G-A c.-74G>A 5_prime_UTR_premature_start_codon_gain AADACL3 2 82898 2.4126E-5 41449 0 3.18837E-5
1-12776306-C-A c.-38C>A 5_prime_UTR_premature_start_codon_gain AADACL3 2 83180 2.40442E-5 41590 0 2.48402E-5
1-12776320-T-C c.-24T>C 5_prime_UTR_premature_start_codon_gain AADACL3 9 83124 1.08272E-4 41562 0 3.31197E-5
1-12776343-CA-TT p.Met1? start_lost AADACL3 16 82982 1.92813E-4 41491 0 NA
1-12776344-A-T c.-7A>T 5_prime_UTR_premature_start_codon_gain AADACL3 62727 81756 0.767246 40878 24574 0.783314
1-12779486-T-C p.Phe3Leu missense AADACL3 1 83198 1.20195E-5 41599 0 NA
1-12779499-G-C p.Arg7Thr missense AADACL3 2 83252 2.40234E-5 41626 0 4.00782E-6
1-12779499-G-T p.Arg7Ile missense AADACL3 1 83252 1.20117E-5 41626 0 NA
1-12779510-A-G p.Met11Val missense AADACL3 1 83270 1.20091E-5 41635 0 0.00375
1-12779512-G-A p.Met11Ile missense AADACL3 1 83276 1.20083E-5 41638 0 3.31208E-5
1-12779531-A-G p.Met18Val missense AADACL3 6 83334 7.19994E-5 41667 0 0.00151057
1-12779534-C-A p.Gln19Lys missense AADACL3 1 83342 1.19988E-5 41671 0 NA
1-12779542-G-T p.Leu21Leu synonymous AADACL3 2 83354 2.3994E-5 41677 0 4.00702E-6
1-12779545-T-G p.Pro22Pro synonymous AADACL3 3 83350 3.59928E-5 41675 0 NA
1-12779546-C-T p.Pro23Ser missense AADACL3 1 83346 1.19982E-5 41673 0 6.25E-4
1-12779547-C-T p.Pro23Leu missense AADACL3 102 83346 0.00122381 41673 1 0.00353571
1-12779548-G-A p.Pro23Pro synonymous AADACL3 1 83344 1.19985E-5 41672 0 4.1401E-5
1-12779549-C-T p.Leu24Leu synonymous AADACL3 3 83344 3.59954E-5 41672 0 9.55414E-5
1-12779551-A-C p.Leu24Leu synonymous AADACL3 1 83344 1.19985E-5 41672 0 NA
1-12779560-T-C p.Asp27Asp synonymous AADACL3 70188 83130 0.844316 41565 29672 0.865625
1-12779563-C-T p.Pro28Pro synonymous AADACL3 1487 83336 0.0178434 41668 20 0.041875
1-12779564-G-A p.Asp29Asn missense AADACL3 14 83352 1.67962E-4 41676 0 2.23001E-4
1-12779577-C-T p.Thr33Met missense AADACL3 7 83352 8.39812E-5 41676 0 7.45181E-5
1-12779578-G-A p.Thr33Thr synonymous AADACL3 52 83350 6.23875E-4 41675 1 5.41367E-4
1-12779585-C-T p.Arg36Cys missense AADACL3 5 83344 5.99923E-5 41672 0 1.27405E-4
1-12779586-G-A p.Arg36His missense AADACL3 181 83348 0.00217162 41674 2 0.00417384
1-12779600-C-T p.Pro41Ser missense AADACL3 2 83348 2.39958E-5 41674 0 NA
1-12779608-G-A p.Lys43Lys synonymous AADACL3 1 83338 1.19993E-5 41669 0 4.00702E-6
1-12779610-T-C p.Leu44Pro missense AADACL3 2 83342 2.39975E-5 41671 0 8.01398E-6
1-12779618-T-C p.Ser47Pro missense AADACL3 69551 82708 0.840922 41354 29290 0.86125
1-12779624-G-T p.Ala49Ser missense AADACL3 4 83332 4.80008E-5 41666 0 NA
1-12779628-C-A p.Ser50Tyr missense AADACL3 2 83326 2.40021E-5 41663 0 NA
1-12779645-C-A p.Pro56Thr missense AADACL3 3 83306 3.60118E-5 41653 0 NA
1-12779654-G-A p.Val59Met missense AADACL3 36 83282 4.32266E-4 41641 0 0.00108266
1-12779665-C-T p.His62His synonymous AADACL3 2 83224 2.40315E-5 41612 0 3.18471E-5
1-12779666-G-T p.Gly63Cys missense AADACL3 2 83220 2.40327E-5 41610 0 9.55597E-5
1-12779671-C-T p.Gly64Gly synonymous AADACL3 6 83204 7.21119E-5 41602 0 3.31351E-5
1-12779671-C-A p.Gly64Gly synonymous AADACL3 11 83204 1.32205E-4 41602 0 0.00100705
1-12779672-G-C p.Gly65Arg missense AADACL3 1 83194 1.20201E-5 41597 0 NA
1-12779674-G-A p.Gly65Gly synonymous AADACL3 1 83190 1.20207E-5 41595 0 9.11486E-5
1-12779676-G-A p.Gly66Asp missense AADACL3 4 83174 4.8092E-5 41587 0 4.00962E-6
1-12779676-G-C p.Gly66Ala missense AADACL3 3 83174 3.6069E-5 41587 0 1.59226E-4
1-12779677-C-T p.Gly66Gly synonymous AADACL3 1 83166 1.20241E-5 41583 0 2.00489E-5
1-12779677-C-A p.Gly66Gly synonymous AADACL3 4 83166 4.80966E-5 41583 0 7.61859E-5
1-12779678-G-A p.Val67Ile missense AADACL3 65 83168 7.81551E-4 41584 0 5.97472E-4
1-12779681-A-G p.Met68Val missense AADACL3 12 83144 1.44328E-4 41572 0 9.62302E-5
1-12779688-G-T p.Ser70Ile missense AADACL3 1 83078 1.20369E-5 41539 0 NA
1-12779693-A-G p.Lys72Glu missense+splice_region AADACL3 1 83024 1.20447E-5 41512 0 0.00125471
1-12780890-C-T p.His4Tyr missense AADACL3 1 82196 1.2166E-5 41098 0 NA
1-12780895-TG-T p.Gly6fs frameshift AADACL3 1 82166 1.21705E-5 41083 0 8.2894E-6
1-12780899-A-G p.Ile7Val missense AADACL3 1 82246 1.21586E-5 41123 0 3.18593E-5
1-12780903-G-A p.Cys8Tyr missense AADACL3 1 82344 1.21442E-5 41172 0 NA
1-12780904-C-T p.Cys8Cys synonymous AADACL3 1 82338 1.21451E-5 41169 0 NA
1-12780909-G-A p.Arg10His missense AADACL3 39 82262 4.74095E-4 41131 0 8.29082E-4
1-12780911-T-C p.Leu11Leu synonymous AADACL3 1 82304 1.21501E-5 41152 0 NA
1-12780931-C-T p.Ser17Ser synonymous AADACL3 1 82142 1.2174E-5 41071 0 4.01113E-5
1-12780932-G-A p.Val18Met missense AADACL3 1 82110 1.21788E-5 41055 0 5.80441E-5
1-12780948-G-A p.Gly23Asp missense+splice_region AADACL3 1 81678 1.22432E-5 40839 0 NA
1-12780949-G-T c.68+1G>T splice_donor AADACL3 1 81588 1.22567E-5 40794 0 NA
1-12780956-A-G c.68+8A>G splice_region AADACL3 10 81108 1.23292E-4 40554 0 2.5618E-4
1-12785193-C-T p.Arg25Cys missense AADACL3 8 82814 9.6602E-5 41407 0 7.08843E-5
1-12785194-G-A p.Arg25His missense AADACL3 9 82820 1.08669E-4 41410 0 6.37267E-5
1-12785198-G-A p.Lys26Lys synonymous AADACL3 184 82872 0.00222029 41436 1 0.0110775
1-12785200-T-C p.Leu27Ser missense AADACL3 92 82892 0.00110988 41446 0 0.003125
1-12785209-A-G p.His30Arg missense AADACL3 1 83012 1.20465E-5 41506 0 NA
1-12785221-T-G p.Val34Gly missense AADACL3 1 83116 1.20314E-5 41558 0 NA
1-12785241-G-T p.Val41Leu missense AADACL3 1 83158 1.20253E-5 41579 0 8.3682E-6
1-12785245-C-A p.Ala42Asp missense AADACL3 1 83180 1.20221E-5 41590 0 8.04738E-6
1-12785282-A-T p.Gly54Gly synonymous AADACL3 1 83230 1.20149E-5 41615 0 NA
1-12785287-A-T p.Asp56Val missense AADACL3 1 83256 1.20111E-5 41628 0 1.20279E-5
1-12785295-C-T p.Arg59Trp missense AADACL3 805 83240 0.00967083 41620 8 0.019375
1-12785295-C-CATATGGAGT p.Arg59delinsHisMetGluTrp disruptive_inframe_insertion AADACL3 1 83250 1.2012E-5 41625 0 4.00953E-5
1-12785296-G-A p.Arg59Gln missense AADACL3 1 83252 1.20117E-5 41626 0 6.37349E-5
1-12785299-T-C p.Val60Ala missense AADACL3 2 83240 2.40269E-5 41620 0 3.18939E-5
1-12785304-G-C p.Val62Leu missense AADACL3 1 83232 1.20146E-5 41616 0 NA
1-12785309-C-A p.Cys63* stop_gained AADACL3 1 83234 1.20143E-5 41617 0 NA
1-12785309-C-T p.Cys63Cys synonymous AADACL3 10 83234 1.20143E-4 41617 0 6.37552E-5
1-12785310-G-A p.Gly64Ser missense AADACL3 2 83238 2.40275E-5 41619 0 3.18776E-5
1-12785317-G-C p.Ser66Thr missense AADACL3 1 83244 1.20129E-5 41622 0 6.25E-4
1-12785321-C-T p.Phe67Phe synonymous AADACL3 3 83226 3.60464E-5 41613 0 8.28322E-5
1-12785322-G-A p.Gly68Arg missense AADACL3 7 83226 8.41083E-5 41613 0 5.03525E-4
1-12785324-A-T p.Gly68Gly synonymous AADACL3 1 83226 1.20155E-5 41613 0 NA
1-12785325-G-A p.Gly69Arg missense AADACL3 2 83224 2.40315E-5 41612 0 NA
1-12785326-G-T p.Gly69Val missense AADACL3 7 83216 8.41184E-5 41608 0 NA
1-12785334-G-T p.Ala72Ser missense AADACL3 1 83220 1.20163E-5 41610 0 NA
1-12785336-C-T p.Ala72Ala synonymous AADACL3 4 83212 4.807E-5 41606 0 0.00100705
1-12785337-G-A p.Ala73Thr missense AADACL3 72 83202 8.65364E-4 41601 0 0.001875
1-12785337-G-T p.Ala73Ser missense AADACL3 2 83202 2.40379E-5 41601 0 3.31389E-5
1-12785341-T-C p.Val74Ala missense AADACL3 8 83218 9.61331E-5 41609 0 1.59317E-4
1-12785354-A-T p.Gln78His missense AADACL3 1 83176 1.20227E-5 41588 0 NA
1-12785366-G-T p.Arg82Ser missense AADACL3 3 83134 3.60863E-5 41567 0 3.18715E-5
1-12785375-G-GC p.Arg87fs frameshift AADACL3 1 83092 1.20349E-5 41546 0 NA
1-12785378-C-T p.Pro86Pro synonymous AADACL3 1 83072 1.20378E-5 41536 0 NA
1-12785379-C-T p.Arg87Trp missense AADACL3 2 83082 2.40726E-5 41541 0 5.03525E-4
1-12785379-CG-C p.Ile88fs frameshift AADACL3 1 83082 1.20363E-5 41541 0 4.0151E-6
1-12785380-G-A p.Arg87Gln missense AADACL3 70 83076 8.42602E-4 41538 1 0.00352467
1-12785384-C-G p.Ile88Met missense AADACL3 2 83066 2.40772E-5 41533 0 NA
1-12785385-C-T p.Arg89Trp missense AADACL3 4 83060 4.8158E-5 41530 0 2.81131E-5
1-12785386-G-A p.Arg89Gln missense AADACL3 1 83052 1.20406E-5 41526 0 1.6064E-5
1-12785387-G-A p.Arg89Arg synonymous AADACL3 1 83044 1.20418E-5 41522 0 1.20457E-5
1-12785396-C-T p.Ile92Ile synonymous AADACL3 6 83026 7.22665E-5 41513 0 2.40946E-5
1-12785430-C-T p.Gln104* stop_gained AADACL3 8 82992 9.63948E-5 41496 0 1.65882E-5
1-12785438-T-A p.Pro106Pro synonymous AADACL3 2 82986 2.41005E-5 41493 0 NA
1-12785440-C-T p.Ser107Leu missense AADACL3 2 82966 2.41063E-5 41483 0 3.18654E-5
1-12785440-C-A p.Ser107* stop_gained AADACL3 1 82966 1.20531E-5 41483 0 NA
1-12785441-G-A p.Ser107Ser synonymous AADACL3 4 82966 4.82125E-5 41483 0 2.23129E-4
1-12785447-A-G p.Gln109Gln synonymous AADACL3 1 82982 1.20508E-5 41491 0 3.18613E-5
1-12785451-A-G p.Arg111Gly missense AADACL3 69 82994 8.31385E-4 41497 1 0.00352467
1-12785466-CT-C p.Leu116fs frameshift AADACL3 1 82998 1.20485E-5 41499 0 NA
1-12785472-A-G p.Thr118Ala missense AADACL3 3 83000 3.61446E-5 41500 0 8.02588E-6
1-12785481-T-C p.Phe121Leu missense AADACL3 3 83000 3.61446E-5 41500 0 3.18471E-5
1-12785488-G-A p.Cys123Tyr missense AADACL3 1 82990 1.20496E-5 41495 0 6.3743E-5
1-12785489-C-T p.Cys123Cys synonymous AADACL3 2 82998 2.4097E-5 41499 0 8.28761E-6
1-12785492-C-CT p.Cys125fs frameshift AADACL3 6 82992 7.22961E-5 41496 0 9.95652E-5
1-12785493-T-G p.Cys125Gly missense AADACL3 2 82992 2.40987E-5 41496 0 3.19775E-5
1-12785494-G-T p.Cys125Phe missense AADACL3 58178 82576 0.704539 41288 20692 0.726532
1-12785528-G-A p.Trp136* stop_gained AADACL3 1 82860 1.20685E-5 41430 0 NA
1-12785535-G-A p.Val139Ile missense AADACL3 1 82876 1.20662E-5 41438 0 NA
1-12785542-T-G p.Met141Arg missense AADACL3 1 82882 1.20653E-5 41441 0 NA
1-12785543-G-C p.Met141Ile missense AADACL3 1 82884 1.20651E-5 41442 0 8.2861E-6
1-12785559-C-T p.Pro147Ser missense AADACL3 2 82904 2.41243E-5 41452 0 1.20424E-5
1-12785571-TGGGAAAAGTACAGAAAGTGGTTGGGCCCA-T p.Trp151fs frameshift AADACL3 1 82914 1.20607E-5 41457 0 4.014E-6
1-12785574-G-A p.Glu152Lys missense AADACL3 1 82924 1.20592E-5 41462 0 4.01403E-6
1-12785578-AG-A p.Lys153fs frameshift AADACL3 1 82942 1.20566E-5 41471 0 NA
1-12785580-T-C p.Tyr154His missense AADACL3 2 82946 2.41121E-5 41473 0 6.37592E-5
1-12785584-G-C p.Arg155Thr missense AADACL3 1 82984 1.20505E-5 41492 0 1.65678E-5
1-12785592-T-C p.Leu158Leu synonymous AADACL3 2 82980 2.41022E-5 41490 0 NA
1-12785598-C-T p.Pro160Ser missense AADACL3 1 82988 1.20499E-5 41494 0 3.18776E-5
1-12785608-T-A p.Ile163Asn missense AADACL3 100 83008 0.0012047 41504 2 0.00245489
1-12785627-G-C p.Glu169Asp missense AADACL3 1 83056 1.20401E-5 41528 0 NA
1-12785629-G-A p.Arg170Lys missense AADACL3 1 83054 1.20404E-5 41527 0 NA
1-12785634-T-A p.Tyr172Asn missense AADACL3 1 83058 1.20398E-5 41529 0 NA
1-12785639-A-G p.Gln173Gln synonymous AADACL3 3 83068 3.6115E-5 41534 0 8.28171E-6
1-12785648-C-G p.Pro176Pro synonymous AADACL3 1 83078 1.20369E-5 41539 0 NA
1-12785649-C-G p.His177Asp missense AADACL3 3 83082 3.61089E-5 41541 1 NA
1-12785660-G-T p.Met180Ile missense AADACL3 631 83064 0.00759655 41532 13 0.0163799
1-12785668-C-T p.Ala183Val missense AADACL3 1 83066 1.20386E-5 41533 0 NA
1-12785671-C-A p.Ala184Asp missense AADACL3 1 83060 1.20395E-5 41530 0 8.28075E-6
1-12785679-GAAGT-G p.Ser189fs frameshift AADACL3 2 83048 2.40825E-5 41524 0 4.41129E-5
1-12785687-T-C p.Ser189Ser synonymous AADACL3 1 83036 1.2043E-5 41518 0 2.48427E-5
1-12785703-A-G p.Met195Val missense AADACL3 1 83032 1.20435E-5 41516 0 NA
1-12785714-C-T p.Pro198Pro synonymous AADACL3 6 82998 7.22909E-5 41499 0 0.00100705
1-12785721-G-A p.Ala201Thr missense AADACL3 53 82930 6.39093E-4 41465 0 6.68875E-4
1-12785737-T-A p.Val206Glu missense AADACL3 1 82876 1.20662E-5 41438 0 1.20347E-5
1-12785737-T-C p.Val206Ala missense AADACL3 1 82876 1.20662E-5 41438 0 NA
1-12785738-G-A p.Val206Val synonymous AADACL3 2 82866 2.41354E-5 41433 0 NA
1-12785749-C-T p.Pro210Leu missense AADACL3 5996 82728 0.0724785 41364 281 0.0907583
1-12785750-G-A p.Pro210Pro synonymous AADACL3 87 82808 0.00105062 41404 0 0.00110738
1-12785760-A-T p.Ile214Phe missense AADACL3 1 82800 1.20773E-5 41400 0 4.01226E-6
1-12785762-C-T p.Ile214Ile synonymous AADACL3 2 82784 2.41593E-5 41392 0 5.21611E-5
1-12785763-G-A p.Val215Met missense AADACL3 3 82770 3.6245E-5 41385 0 6.42044E-5
1-12785784-C-T p.Leu222Phe missense AADACL3 1 82648 1.20995E-5 41324 0 NA
1-12785787-C-T p.Arg223Trp missense AADACL3 5 82632 6.05092E-5 41316 0 6.62691E-5
1-12785823-G-A p.Asp235Asn missense AADACL3 1 82436 1.21306E-5 41218 0 NA
1-12785828-G-T p.Leu236Leu synonymous AADACL3 1 82444 1.21294E-5 41222 0 8.28281E-6
1-12785832-G-T p.Val238Leu missense AADACL3 1 82414 1.21339E-5 41207 0 NA
1-12785837-C-T p.Pro239Pro synonymous AADACL3 5 82428 6.0659E-5 41214 0 2.54874E-4
1-12785838-G-T p.Val240Leu missense AADACL3 1 82408 1.21347E-5 41204 0 NA
1-12785838-G-A p.Val240Met missense AADACL3 1 82408 1.21347E-5 41204 0 8.28418E-6
1-12785841-A-G p.Thr241Ala missense AADACL3 3 82384 3.64148E-5 41192 0 NA
1-12785849-C-T p.His243His synonymous AADACL3 1 82420 1.2133E-5 41210 0 4.0151E-6
1-12785853-A-G p.Met245Val missense AADACL3 1 82442 1.21297E-5 41221 0 2.40931E-5
1-12785883-A-T p.Thr255Ser missense AADACL3 1 82572 1.21106E-5 41286 0 NA
1-12785887-T-C p.Ile256Thr missense AADACL3 2 82594 2.42148E-5 41297 0 4.01558E-6
1-12785897-C-T p.Ser259Ser synonymous AADACL3 1 82608 1.21054E-5 41304 0 2.23029E-4
1-12785903-G-T p.Leu261Phe missense AADACL3 4 82612 4.84191E-5 41306 0 8.29999E-6
1-12785906-C-G p.His262Gln missense AADACL3 1 82634 1.21016E-5 41317 0 8.03652E-6
1-12785911-C-T p.Pro264Leu missense AADACL3 47 82604 5.6898E-4 41302 0 0.003125
1-12785940-G-A p.Val274Ile missense AADACL3 1 82506 1.21203E-5 41253 0 4.03845E-6
1-12785956-G-T p.Gly279Val missense AADACL3 1 82278 1.21539E-5 41139 0 3.18512E-5