Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-67410026-T-A c.*169A>T splice_region ACY3 212 36832 0.00575586 18416 0 0.013641
11-67410205-G-GGGCTCGGGGCAGGGGTC p.Pro317fs frameshift ACY3 2 83030 2.40877E-5 41515 0 1.65385E-5
11-67410210-C-A p.Pro315Pro synonymous ACY3 2 83072 2.40755E-5 41536 0 1.59408E-4
11-67410211-G-A p.Pro315Leu missense ACY3 2 83088 2.40709E-5 41544 0 3.30682E-5
11-67410215-C-T p.Ala314Thr missense ACY3 1 83104 1.20331E-5 41552 0 3.18857E-5
11-67410225-C-T p.Ala310Ala synonymous ACY3 2 83140 2.40558E-5 41570 0 0.00100705
11-67410226-G-A p.Ala310Val missense ACY3 5 83146 6.01352E-5 41573 0 9.5584E-5
11-67410227-C-T p.Ala310Thr missense ACY3 5 83140 6.01395E-5 41570 0 9.56389E-5
11-67410227-C-A p.Ala310Ser missense ACY3 1 83140 1.20279E-5 41570 0 NA
11-67410228-G-A p.Pro309Pro synonymous ACY3 4 83156 4.81024E-5 41578 0 5.03525E-4
11-67410233-T-C p.Met308Val missense ACY3 1 83168 1.20239E-5 41584 0 NA
11-67410243-G-A p.Thr304Thr synonymous ACY3 21 83134 2.52604E-4 41567 0 0.00252016
11-67410255-C-G p.Lys300Asn missense ACY3 2 83174 2.4046E-5 41587 1 NA
11-67410274-G-T p.Ala294Asp missense ACY3 3 83194 3.60603E-5 41597 0 3.18674E-5
11-67410279-G-A p.Gly292Gly synonymous ACY3 4 83176 4.80908E-5 41588 0 3.18634E-5
11-67410289-T-C p.Tyr289Cys missense ACY3 6 83196 7.21189E-5 41598 0 1.07452E-4
11-67410289-T-G p.Tyr289Ser missense ACY3 1 83196 1.20198E-5 41598 0 NA
11-67410302-C-T p.Glu285Lys missense ACY3 3 83196 3.60594E-5 41598 0 0.00100705
11-67410303-G-A p.Asn284Asn synonymous ACY3 12 83192 1.44245E-4 41596 0 5.03525E-4
11-67410311-A-T p.Phe282Ile missense ACY3 1 83180 1.20221E-5 41590 0 5.03525E-4
11-67410313-A-G p.Val281Ala missense ACY3 1 83168 1.20239E-5 41584 0 NA
11-67410314-C-T p.Val281Met missense ACY3 92 83154 0.00110638 41577 2 0.003125
11-67410315-G-A p.Pro280Pro synonymous ACY3 2 83150 2.40529E-5 41575 0 6.61978E-5
11-67410318-G-A p.Tyr279Tyr synonymous ACY3 1 83142 1.20276E-5 41571 0 8.27691E-6
11-67410323-C-T p.Val278Met missense ACY3 2 83132 2.40581E-5 41566 0 8.27965E-6
11-67410324-C-T p.Thr277Thr synonymous ACY3 6 83138 7.21692E-5 41569 0 1.59286E-4
11-67410325-G-A p.Thr277Met missense ACY3 22 83140 2.64614E-4 41570 0 4.96927E-4
11-67410327-G-A p.Ser276Ser synonymous ACY3 1 83148 1.20267E-5 41574 0 6.37227E-5
11-67410339-A-G p.Tyr272Tyr synonymous ACY3 1 83122 1.20305E-5 41561 0 NA
11-67410348-G-T p.Asp269Glu missense ACY3 1 83110 1.20322E-5 41555 0 8.31145E-6
11-67410349-T-C p.Asp269Gly missense ACY3 1 83096 1.20343E-5 41548 0 NA
11-67410352-T-TC p.Glu268fs frameshift ACY3 1 83076 1.20372E-5 41538 0 NA
11-67410369-G-T p.Phe262Leu missense ACY3 1 83060 1.20395E-5 41530 0 NA
11-67410374-T-C p.Ile261Val missense ACY3 2 83032 2.40871E-5 41516 0 NA
11-67410383-C-T p.Gly258Ser missense ACY3 2 82980 2.41022E-5 41490 0 3.99036E-6
11-67410398-G-A p.Gln253* stop_gained ACY3 1 82868 1.20674E-5 41434 0 NA
11-67410403-T-A p.Asp251Val missense ACY3 3 82738 3.6259E-5 41369 0 1.20441E-5
11-67410406-C-T p.Arg250Gln missense ACY3 1 82726 1.20881E-5 41363 0 3.83914E-5
11-67410407-G-A p.Arg250* stop_gained ACY3 1 82712 1.20901E-5 41356 0 3.18512E-5
11-67410415-G-A c.745-5C>T splice_region ACY3 1 82606 1.21057E-5 41303 0 4.04498E-5
11-67410418-G-A c.745-8C>T splice_region ACY3 10 82542 1.2115E-4 41271 0 2.86624E-4
11-67412226-CA-C c.744+4delT splice_region ACY3 1 80928 1.23567E-5 40464 0 NA
11-67412229-A-ACC c.744+1_744+2insGG splice_donor ACY3 1 80916 1.23585E-5 40458 0 NA
11-67412229-ACCT-A p.Gln248fs frameshift ACY3 1 80916 1.23585E-5 40458 0 NA
11-67412230-C-CACACA p.Asp249fs frameshift ACY3 1 80968 1.23506E-5 40484 0 1.98079E-4
11-67412252-G-C p.Gly241Gly synonymous ACY3 2 81442 2.45574E-5 40721 0 1.21733E-5
11-67412253-C-T p.Gly241Asp missense ACY3 1 81452 1.22772E-5 40726 0 6.06958E-6
11-67412266-C-G p.Gly237Arg missense ACY3 12 81632 1.47001E-4 40816 0 1.91375E-4
11-67412266-C-T p.Gly237Arg missense ACY3 3 81634 3.67494E-5 40817 0 1.70126E-4
11-67412267-G-A p.Ala236Ala synonymous ACY3 1 81646 1.2248E-5 40823 0 8.38012E-5
11-67412269-C-T p.Ala236Thr missense ACY3 3 81680 3.67287E-5 40840 0 NA
11-67412271-T-C p.Glu235Gly missense ACY3 1 81702 1.22396E-5 40851 0 4.09232E-5
11-67412273-G-A p.Thr234Thr synonymous ACY3 6 81714 7.34268E-5 40857 0 0.00101937
11-67412275-T-C p.Thr234Ala missense ACY3 1 81712 1.22381E-5 40856 0 3.95538E-5
11-67412277-CG-C p.Arg233fs frameshift ACY3 1 81734 1.22348E-5 40867 0 NA
11-67412278-G-A p.Arg233Cys missense ACY3 1 81742 1.22336E-5 40871 0 7.67342E-5
11-67412284-A-G p.Phe231Leu missense ACY3 4 81784 4.89093E-5 40892 0 3.1902E-5
11-67412290-C-T p.Val229Met missense ACY3 5 81812 6.11157E-5 40906 0 3.18898E-5
11-67412293-C-T p.Val228Ile missense ACY3 6 81832 7.3321E-5 40916 0 5.12647E-5
11-67412294-G-A p.Gly227Gly synonymous ACY3 2 81826 2.44421E-5 40913 0 NA
11-67412299-C-T p.Val226Met missense ACY3 2 81876 2.44272E-5 40938 0 1.4806E-5
11-67412300-G-A p.Pro225Pro synonymous ACY3 2 81886 2.44242E-5 40943 0 5.95557E-5
11-67412321-A-G p.Phe218Phe synonymous ACY3 2 81980 2.43962E-5 40990 0 NA
11-67412327-A-T p.Pro216Pro synonymous ACY3 1 81984 1.21975E-5 40992 0 9.97407E-5
11-67412336-C-T p.Thr213Thr synonymous ACY3 9 81998 1.09759E-4 40999 0 2.40823E-4
11-67412337-G-A p.Thr213Met missense ACY3 1 82010 1.21936E-5 41005 0 1.2834E-5
11-67412340-C-T p.Gly212Asp missense+splice_region ACY3 1 82024 1.21916E-5 41012 0 NA
11-67412341-C-T c.635-1G>A splice_acceptor ACY3 1 82028 1.2191E-5 41014 0 NA
11-67412344-T-C c.635-4A>G splice_region ACY3 1 82022 1.21919E-5 41011 0 8.37668E-6
11-67412346-T-C c.635-6A>G splice_region ACY3 1 82028 1.2191E-5 41014 0 NA
11-67412348-G-A c.635-8C>T splice_region ACY3 1 82034 1.21901E-5 41017 0 4.16635E-6
11-67412523-G-A p.Phe209Phe synonymous ACY3 1 82556 1.2113E-5 41278 0 6.26566E-4
11-67412531-C-T p.Glu207Lys missense ACY3 1 82582 1.21092E-5 41291 0 1.65074E-5
11-67412532-G-A p.Ile206Ile synonymous ACY3 4 82602 4.8425E-5 41301 0 6.37308E-5
11-67412532-G-T p.Ile206Ile synonymous ACY3 1 82602 1.21062E-5 41301 0 NA
11-67412533-A-G p.Ile206Thr missense ACY3 4 82600 4.84262E-5 41300 0 3.82531E-4
11-67412536-A-G p.Phe205Ser missense ACY3 1 82634 1.21016E-5 41317 0 NA
11-67412537-A-G p.Phe205Leu missense ACY3 162 82640 0.00196031 41320 0 0.00494134
11-67412543-G-T p.Leu203Met missense ACY3 1 82652 1.20989E-5 41326 0 1.65085E-5
11-67412548-G-A p.Thr201Ile missense ACY3 2 82654 2.41973E-5 41327 0 8.25668E-6
11-67412565-C-T p.Met195Ile missense ACY3 1 82712 1.20901E-5 41356 0 8.2661E-6
11-67412577-A-T p.Ile191Ile synonymous ACY3 5 82748 6.04244E-5 41374 0 5.03525E-4
11-67412595-A-G p.Gly185Gly synonymous ACY3 1 82714 1.20899E-5 41357 0 1.6647E-5
11-67412598-C-T p.Gln184Gln synonymous ACY3 36 82720 4.35203E-4 41360 0 5.03525E-4
11-67412624-C-T c.527-1G>A splice_acceptor ACY3 3 82474 3.63751E-5 41237 0 NA
11-67412625-TG-T c.527-3delC splice_region ACY3 1 82466 1.21262E-5 41233 0 3.18898E-4
11-67412629-G-A c.527-6C>T splice_region ACY3 1 82456 1.21277E-5 41228 0 NA
11-67412750-C-T c.526+8G>A splice_region ACY3 1 82656 1.20983E-5 41328 0 6.37552E-5
11-67412750-C-A c.526+8G>T splice_region ACY3 3 82656 3.6295E-5 41328 0 4.81738E-5
11-67412763-C-T p.Gly174Glu missense ACY3 1 82772 1.20814E-5 41386 0 NA
11-67412771-G-C p.Ala171Ala synonymous ACY3 5994 82666 0.0725086 41333 245 0.0742502
11-67412772-G-T p.Ala171Asp missense ACY3 2 82784 2.41593E-5 41392 0 NA
11-67412808-C-T p.Arg159Gln missense ACY3 2 82802 2.4154E-5 41401 0 2.54956E-4
11-67412809-G-A p.Arg159Trp missense ACY3 1 82774 1.20811E-5 41387 0 8.54803E-6
11-67412809-G-T p.Arg159Arg synonymous ACY3 1 82774 1.20811E-5 41387 0 NA
11-67412813-G-A p.Tyr157Tyr synonymous ACY3 2 82768 2.41639E-5 41384 0 NA
11-67412814-T-A p.Tyr157Phe missense ACY3 1 82766 1.20823E-5 41383 0 NA
11-67412815-A-G p.Tyr157His missense ACY3 1 82758 1.20834E-5 41379 0 NA
11-67412821-A-G p.Phe155Leu missense ACY3 1 82744 1.20855E-5 41372 0 NA
11-67412829-C-G p.Cys152Ser missense ACY3 3 82694 3.62783E-5 41347 0 3.18715E-5
11-67412839-C-T p.Glu149Lys missense ACY3 163 82492 0.00197595 41246 0 0.00506724
11-67412840-G-A p.Pro148Pro synonymous ACY3 1 82522 1.2118E-5 41261 0 6.37389E-5
11-67412849-C-T p.Leu145Leu splice_region+synonymous ACY3 1 82372 1.214E-5 41186 0 8.3974E-5
11-67412854-G-A c.433-3C>T splice_region ACY3 3 82286 3.64582E-5 41143 0 3.18613E-5
11-67412858-G-T c.433-7C>A splice_region ACY3 1 82202 1.21652E-5 41101 0 6.25782E-4
11-67413155-G-A c.432+8C>T splice_region ACY3 2 80518 2.48392E-5 40259 0 8.99879E-6
11-67413159-C-A c.432+4G>T splice_region ACY3 2 80784 2.47574E-5 40392 0 NA
11-67413163-C-T p.Gln144Gln splice_region+synonymous ACY3 2 81254 2.46142E-5 40627 0 3.18959E-5
11-67413174-G-A p.Arg141Cys missense ACY3 4 81762 4.89225E-5 40881 0 8.78148E-6
11-67413177-A-T p.Cys140Ser missense ACY3 58 81992 7.07386E-4 40996 1 7.65599E-4
11-67413178-C-A p.Leu139Leu synonymous ACY3 1 82082 1.21829E-5 41041 0 NA
11-67413193-G-A p.Val134Val synonymous ACY3 1 82534 1.21162E-5 41267 0 5.11832E-5
11-67413196-T-C p.Glu133Glu synonymous ACY3 1 82596 1.21071E-5 41298 0 3.19142E-5
11-67413199-G-A p.His132His synonymous ACY3 1 82660 1.20978E-5 41330 0 9.56389E-5
11-67413211-C-T p.Ala128Ala synonymous ACY3 1 82834 1.20723E-5 41417 0 3.99055E-6
11-67413212-G-A p.Ala128Val missense ACY3 2 82826 2.4147E-5 41413 0 6.37796E-5
11-67413212-G-C p.Ala128Gly missense ACY3 1 82826 1.20735E-5 41413 0 NA
11-67413213-C-T p.Ala128Thr missense ACY3 2 82854 2.41388E-5 41427 0 1.66592E-5
11-67413224-G-A p.Thr124Ile missense ACY3 7 82984 8.43536E-5 41492 1 0.0020141
11-67413238-C-T p.Thr119Thr synonymous ACY3 51 82980 6.14606E-4 41490 0 0.00100705
11-67413239-G-A p.Thr119Met missense ACY3 6 83002 7.22874E-5 41501 0 9.56999E-5
11-67413244-G-A p.Asn117Asn synonymous ACY3 1 83038 1.20427E-5 41519 0 NA
11-67413252-G-T p.Leu115Met missense ACY3 2 83014 2.40923E-5 41507 0 NA
11-67413280-C-T p.Ser105Ser synonymous ACY3 1 82740 1.20861E-5 41370 0 2.78973E-5
11-67413281-G-A p.Ser105Leu missense ACY3 2 82708 2.41815E-5 41354 0 5.80489E-5
11-67413282-A-G p.Ser105Pro missense ACY3 1 82694 1.20928E-5 41347 0 4.14635E-5
11-67413292-C-G p.Gly101Gly synonymous ACY3 1 82498 1.21215E-5 41249 0 NA
11-67413293-C-T p.Gly101Glu missense ACY3 2 82526 2.42348E-5 41263 0 1.19635E-5
11-67413294-C-G p.Gly101Arg missense ACY3 5 82542 6.05752E-5 41271 0 1.59546E-5
11-67413300-G-A c.-69C>T 5_prime_UTR_premature_start_codon_gain ACY3 106 82484 0.0012851 41242 0 0.00258291
11-67413302-TG-T p.Gln98fs frameshift ACY3 2 82472 2.42507E-5 41236 0 NA
11-67413304-G-A p.Asn97Asn synonymous ACY3 1 82424 1.21324E-5 41212 0 NA
11-67413314-C-T p.Arg94Gln missense ACY3 4 82186 4.86701E-5 41093 0 1.27567E-4
11-67413323-G-T p.Thr91Lys missense ACY3 6 82030 7.3144E-5 41015 0 1.2751E-4
11-67413328-C-T p.Glu89Glu synonymous ACY3 2 81880 2.4426E-5 40940 0 4.02227E-6
11-67413339-C-T p.Asp86Asn missense ACY3 3 81556 3.67845E-5 40778 0 2.46148E-5
11-67413340-G-A c.-109C>T 5_prime_UTR_premature_start_codon_gain ACY3 14 81466 1.71851E-4 40733 0 5.03525E-4
11-67413340-G-T p.Asp85Glu missense ACY3 2 81468 2.45495E-5 40734 0 1.71122E-5
11-67413341-T-C p.Asp85Gly missense ACY3 1 81440 1.2279E-5 40720 0 3.42261E-5
11-67413343-C-T p.Pro84Pro synonymous ACY3 1 81382 1.22877E-5 40691 0 2.47838E-5
11-67413344-G-C p.Pro84Arg missense ACY3 1 81390 1.22865E-5 40695 0 8.58104E-6
11-67413344-G-A p.Pro84Leu missense ACY3 5 81390 6.14326E-5 40695 0 1.71621E-5
11-67413352-C-T p.Arg81Arg synonymous ACY3 4 81300 4.92005E-5 40650 0 NA
11-67413365-A-T c.237-7T>A splice_region ACY3 207 81156 0.00255064 40578 3 0.00514574
11-67414283-G-A p.Leu78Phe missense ACY3 1 80402 1.24375E-5 40201 0 NA
11-67414289-T-A p.Ser76Cys missense ACY3 1 80386 1.244E-5 40193 0 NA
11-67414303-C-T p.Arg71His missense ACY3 2 80522 2.48379E-5 40261 0 1.61784E-5
11-67414319-C-T p.Asp66Asn missense ACY3 17 80634 2.10829E-4 40317 0 1.49447E-4
11-67414319-C-A p.Asp66Tyr missense ACY3 2 80634 2.48034E-5 40317 0 1.21173E-5
11-67414322-C-T p.Val65Met missense ACY3 2 80658 2.47961E-5 40329 0 2.02626E-5
11-67414327-C-T p.Arg63His missense ACY3 2 80550 2.48293E-5 40275 0 5.4942E-5
11-67414328-G-A p.Arg63Cys missense ACY3 2 80574 2.48219E-5 40287 0 3.18512E-5
11-67414330-C-T p.Arg62His missense ACY3 30 80106 3.74504E-4 40053 0 6.05288E-4
11-67414331-G-A p.Arg62Cys missense ACY3 7 80040 8.74563E-5 40020 0 6.38651E-5
11-67414337-C-T p.Gly60Ser missense ACY3 4 79512 5.03069E-5 39756 0 7.35456E-5
11-67414342-G-A p.Thr58Ile missense ACY3 2 79674 2.51023E-5 39837 0 NA
11-67414349-C-CAG p.Ala56fs frameshift ACY3 1 79758 1.25379E-5 39879 0 NA
11-67414350-C-T p.Pro55Pro synonymous ACY3 8 79810 1.00238E-4 39905 0 3.18593E-4
11-67414350-C-CCGGATGT p.Ala56fs frameshift ACY3 1 79810 1.25298E-5 39905 0 NA
11-67414352-G-C p.Pro55Ala missense ACY3 80 79944 0.0010007 39972 0 0.00101112
11-67414353-G-C p.Asn54Lys missense ACY3 9 80028 1.12461E-4 40014 0 3.78372E-5
11-67414358-C-T p.Ala53Thr missense ACY3 27 79916 3.37855E-4 39958 0 0.0010101
11-67414361-G-T p.Leu52Met missense ACY3 1 80016 1.24975E-5 40008 0 1.95791E-5
11-67414364-C-A p.Val51Leu missense ACY3 2 80130 2.49594E-5 40065 0 NA
11-67414370-C-T p.Val49Met missense ACY3 1 80174 1.24729E-5 40087 0 2.03853E-5
11-67414374-G-A c.-223C>T 5_prime_UTR_premature_start_codon_gain ACY3 1 80264 1.24589E-5 40132 0 1.64433E-5
11-67414380-G-A p.Ser45Ser synonymous ACY3 332 80262 0.00413645 40131 1 0.00352228
11-67414382-T-C p.Ser45Gly missense ACY3 1 80320 1.24502E-5 40160 0 1.10828E-5
11-67414382-TG-T p.Ser45fs frameshift ACY3 1 80320 1.24502E-5 40160 0 4.12548E-6
11-67414398-T-C c.-245-2A>G splice_acceptor ACY3 1 80194 1.24698E-5 40097 0 1.08586E-4
11-67414400-C-T p.Ala39Thr missense ACY3 1 80144 1.24775E-5 40072 0 6.87474E-5
11-67414408-T-C p.His36Arg missense ACY3 1 80236 1.24632E-5 40118 0 NA
11-67414420-C-T p.Arg32Gln missense ACY3 1 80184 1.24713E-5 40092 0 3.61376E-5
11-67414421-G-C p.Arg32Gly missense ACY3 4 80226 4.98591E-5 40113 0 2.34885E-5
11-67414421-G-A p.Arg32Trp missense ACY3 3 80226 3.73944E-5 40113 0 3.76478E-5
11-67414422-G-T p.Ala31Ala synonymous ACY3 1 80216 1.24663E-5 40108 0 NA
11-67414427-GG-CA p.TyrLeu29TyrVal missense ACY3 1 80190 1.24704E-5 40095 0 NA
11-67414433-C-T p.Val28Ile missense ACY3 385 80054 0.00480925 40027 0 0.010625
11-67414434-G-A p.Gly27Gly synonymous ACY3 2 79986 2.50044E-5 39993 0 2.26634E-5
11-67414435-C-G p.Gly27Ala missense ACY3 1 80040 1.24938E-5 40020 0 NA
11-67414437-C-T p.Ser26Ser synonymous ACY3 33 80046 4.12263E-4 40023 0 8.6053E-4
11-67414445-C-T p.Glu24Lys missense ACY3 5 79970 6.25234E-5 39985 0 2.86254E-5
11-67414446-G-A p.Asn23Asn synonymous ACY3 3 79984 3.75075E-5 39992 0 1.27502E-4
11-67414455-C-T p.Thr20Thr synonymous ACY3 591 79654 0.00741959 39827 12 0.0167601
11-67414455-C-A p.Thr20Thr synonymous ACY3 1 79694 1.2548E-5 39847 0 NA
11-67414458-GC-G p.Gly19fs frameshift ACY3 1 79586 1.2565E-5 39793 0 5.71468E-6
11-67414459-C-T p.Gly19Asp missense ACY3 1 79564 1.25685E-5 39782 0 1.15072E-5
11-67414473-C-T p.Val14Val synonymous ACY3 1 79302 1.261E-5 39651 0 NA
11-67414475-C-T p.Val14Met missense ACY3 2 79124 2.52768E-5 39562 0 9.56084E-5
11-67414477-C-T p.Arg13His missense ACY3 10 78932 1.26691E-4 39466 0 8.45737E-5
11-67414480-C-T p.Arg12His missense ACY3 2 78806 2.53788E-5 39403 0 8.81712E-5
11-67414481-G-T p.Arg12Ser missense ACY3 2 78772 2.53897E-5 39386 0 NA
11-67414487-G-A p.Pro10Ser missense ACY3 1 78210 1.27861E-5 39105 0 NA
11-67414492-C-T p.Arg8Gln missense ACY3 37209 54274 0.685577 27137 12590 0.87375
11-67414507-G-A p.Ser3Leu missense ACY3 1 75734 1.32041E-5 37867 0 3.18512E-5
11-67414535-C-T c.-20-1G>A splice_acceptor ACY3 1 68270 1.46477E-5 34135 0 NA
11-67414987-C-T c.-21G>A splice_region ACY3 2 2932 6.82128E-4 1466 0 3.18796E-5