Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-19593799-T-A p.Ile153Phe missense AKR7L 1 83356 1.19967E-5 41678 0 NA
1-19593811-G-C p.Pro149Ala missense AKR7L 1 83364 1.19956E-5 41682 0 NA
1-19593817-C-T p.Glu147Lys missense AKR7L 1 83368 1.1995E-5 41684 0 1.27244E-4
1-19593819-T-C p.His146Arg missense AKR7L 1 83370 1.19947E-5 41685 0 NA
1-19593820-G-A p.His146Tyr missense AKR7L 2 83376 2.39877E-5 41688 0 3.18471E-5
1-19593826-A-C p.Phe144Val missense AKR7L 2558 83326 0.0306987 41663 58 0.0346634
1-19593832-G-A p.His142Tyr missense AKR7L 1 83364 1.19956E-5 41682 0 NA
1-19593833-C-T p.Trp141* stop_gained AKR7L 1 83362 1.19959E-5 41681 0 NA
1-19593834-CA-C p.Trp141fs frameshift AKR7L 1 83360 1.19962E-5 41680 0 NA
1-19593845-A-G p.Ter205Glnext*? stop_lost AKR7L 1 83336 1.19996E-5 41668 0 2.23029E-4
1-19593848-G-A p.Leu204Phe missense AKR7L 2 83330 2.4001E-5 41665 0 NA
1-19593850-C-T p.Ala136Thr missense AKR7L 3 83318 3.60066E-5 41659 0 3.97681E-6
1-19593851-G-A p.Arg203Cys missense AKR7L 1 83312 1.20031E-5 41656 0 1.15355E-4
1-19593859-C-T p.Val133Ile missense AKR7L 1 83292 1.2006E-5 41646 0 3.29935E-5
1-19593863-C-T p.Gly199Ser missense AKR7L 2 83266 2.40194E-5 41633 0 6.38081E-5
1-19593864-G-A p.Pro131Leu missense AKR7L 13 83252 1.56152E-4 41626 0 6.26566E-4
1-19593868-C-T p.Glu130Lys missense AKR7L 1 83262 1.20103E-5 41631 0 3.18817E-5
1-19593870-A-G p.Leu129Pro missense AKR7L 1 83250 1.2012E-5 41625 0 NA
1-19593886-C-T p.Ala124Thr missense AKR7L 4 83194 4.80804E-5 41597 0 3.19101E-5
1-19593887-C-T p.Gly191Ser missense AKR7L 62 83194 7.45246E-4 41597 0 0.00125313
1-19593888-G-A p.Ala123Val missense AKR7L 5 83180 6.01106E-5 41590 0 7.66088E-4
1-19593895-A-G p.Leu188Pro missense AKR7L 1 83172 1.20233E-5 41586 0 3.97893E-6
1-19593913-C-T p.Glu115Lys missense AKR7L 1 83054 1.20404E-5 41527 0 3.19346E-5
1-19593938-C-T p.Gly174Ser missense AKR7L 2 82962 2.41074E-5 41481 0 6.38529E-5
1-19593939-G-A p.Ala106Val missense AKR7L 5 82906 6.03093E-5 41453 0 6.25E-4
1-19593940-C-T p.Ala106Thr missense AKR7L 79 82860 9.53415E-4 41430 0 8.40294E-4
1-19593941-G-A p.Arg173Cys missense AKR7L 3 82892 3.61917E-5 41446 0 8.32224E-5
1-19593946-C-T p.Gly104Arg missense AKR7L 1 82890 1.20642E-5 41445 0 2.31609E-4
1-19593947-G-A p.Arg171Trp missense AKR7L 223 82750 0.00269486 41375 2 0.00670199
1-19593949-G-C p.His103Asp missense AKR7L 4 82840 4.82859E-5 41420 0 NA
1-19593952-C-T p.Ala102Thr missense AKR7L 1 82812 1.20755E-5 41406 0 NA
1-19593962-G-A c.301-7C>T splice_region AKR7L 2 82740 2.41721E-5 41370 0 2.79904E-5
1-19595060-G-C c.300+6C>G splice_region AKR7L 1 82482 1.21239E-5 41241 0 3.18674E-5
1-19595068-G-A p.Gln100* stop_gained AKR7L 1 82632 1.21018E-5 41316 0 NA
1-19595069-C-T p.Ala167Thr missense AKR7L 4 82642 4.84015E-5 41321 0 6.76822E-5
1-19595077-A-C p.Ser97Ala missense AKR7L 2 82666 2.41937E-5 41333 0 NA
1-19595080-G-A p.His96Tyr missense AKR7L 1 82694 1.20928E-5 41347 0 6.59946E-5
1-19595086-A-G p.Tyr94His missense AKR7L 2 82694 2.41856E-5 41347 0 3.18817E-5
1-19595090-C-G p.Trp92Cys missense AKR7L 5 82752 6.04215E-5 41376 0 2.55053E-4
1-19595095-G-A p.Arg91Trp missense AKR7L 3 82826 3.62205E-5 41413 0 3.18756E-5
1-19595100-G-A p.Ala89Val missense AKR7L 1 82858 1.20688E-5 41429 0 3.18735E-5
1-19595102-G-A p.Arg156Cys missense AKR7L 5 82886 6.03238E-5 41443 0 3.97959E-5
1-19595103-G-A p.Ala88Val missense AKR7L 5 82906 6.03093E-5 41453 0 NA
1-19595106-G-A p.Ser87Leu missense AKR7L 3 82872 3.62004E-5 41436 0 7.95817E-6
1-19595106-G-C p.Ser87Trp missense AKR7L 1 82874 1.20665E-5 41437 0 NA
1-19595111-C-A p.Met85Ile missense AKR7L 1 82962 1.20537E-5 41481 0 NA
1-19595114-G-T p.Ser84Arg missense AKR7L 4 82956 4.82183E-5 41478 0 NA
1-19595117-G-A p.Gln151* stop_gained AKR7L 1 82960 1.2054E-5 41480 0 NA
1-19595119-G-C p.Pro83Ala missense AKR7L 2 82962 2.41074E-5 41481 0 NA
1-19595120-A-C p.Ser150Ala missense AKR7L 7 82942 8.43963E-5 41471 0 6.37755E-5
1-19595122-C-T p.Ala82Thr missense AKR7L 3 82944 3.6169E-5 41472 1 3.97845E-6
1-19595123-G-A p.Arg149Cys missense AKR7L 18 82958 2.16977E-4 41479 0 9.56511E-5
1-19595124-C-T p.Ser81Asn missense AKR7L 1 82962 1.20537E-5 41481 0 3.97817E-6
1-19595128-C-T p.Ala80Thr missense AKR7L 2 82952 2.41103E-5 41476 0 1.98918E-5
1-19595135-C-T p.Val145Ile missense AKR7L 2 82936 2.4115E-5 41468 0 8.24402E-5
1-19595135-CGC-AGT p.Ala77Thr missense AKR7L 1 82936 1.20575E-5 41468 0 NA
1-19595137-C-T p.Ala77Thr missense AKR7L 51383 80796 0.63596 40398 16520 0.72125
1-19595139-G-A p.Ala76Val missense AKR7L 3 82908 3.61847E-5 41454 0 2.30848E-4
1-19595142-T-C p.Gln75Arg missense AKR7L 1 82916 1.20604E-5 41458 0 8.24375E-6
1-19595159-C-T p.Gly137Ser missense AKR7L 2483 82572 0.0300707 41286 50 0.03465
1-19595161-G-C p.Leu69Val missense AKR7L 1 82650 1.20992E-5 41325 0 7.95773E-6
1-19595173-C-T p.Glu65Lys missense AKR7L 8 82384 9.71062E-5 41192 0 7.42832E-5
1-19595174-G-A p.Arg132* stop_gained AKR7L 14 82356 1.69994E-4 41178 0 1.65076E-4
1-19595174-G-T p.Phe64Leu missense AKR7L 4 82354 4.85708E-5 41177 0 3.18654E-5
1-19595177-G-A p.Leu131Phe missense AKR7L 2 82362 2.4283E-5 41181 0 NA
1-19595179-G-C p.His63Asp missense AKR7L 3 82278 3.64618E-5 41139 0 NA
1-19595182-G-A p.His62Tyr missense AKR7L 1 82120 1.21773E-5 41060 0 NA
1-19595194-A-G p.Phe58Leu missense+splice_region AKR7L 9170 80918 0.113325 40459 508 0.135181
1-19595196-C-T c.171-1G>A splice_acceptor AKR7L 9 81614 1.10275E-4 40807 0 6.25E-4
1-19595202-A-G c.171-7T>C splice_region AKR7L 6 81360 7.37463E-5 40680 0 1.55522E-4
1-19595760-A-G c.704+6T>C splice_region AKR7L 2376 77266 0.0307509 38633 44 0.0347098
1-19595761-C-T c.704+5G>A splice_region AKR7L 1 77432 1.29146E-5 38716 0 6.25E-4
1-19595762-T-G c.704+4A>C splice_region AKR7L 7 77486 9.03389E-5 38743 0 3.18593E-5
1-19595765-C-G c.704+1G>C splice_donor AKR7L 3 77658 3.86309E-5 38829 0 1.59236E-4
1-19595786-C-T p.Trp228* stop_gained AKR7L 1 78732 1.27013E-5 39366 0 1.07202E-4
1-19595801-G-C p.Phe223Leu missense AKR7L 1 79330 1.26056E-5 39665 0 NA
1-19595805-C-T p.Arg222His missense AKR7L 1 79416 1.25919E-5 39708 0 3.97646E-5
1-19595813-G-A p.Pro219Pro synonymous AKR7L 6 79796 7.51917E-5 39898 0 9.55536E-5
1-19595814-G-C p.Pro219Arg missense AKR7L 2 79890 2.50344E-5 39945 0 8.24008E-6
1-19595816-C-T p.Gln218Gln synonymous AKR7L 1 79944 1.25088E-5 39972 0 3.1839E-5
1-19595818-G-T p.Gln218Lys missense AKR7L 15 80054 1.87374E-4 40027 0 5.56704E-5
1-19595821-T-G p.Lys217Gln missense AKR7L 8 80138 9.98278E-5 40069 0 1.81264E-4
1-19595825-G-A p.Asp215Asp synonymous AKR7L 107 80226 0.00133373 40113 1 7.43598E-4
1-19595833-C-A p.Asp213Tyr missense AKR7L 1 80476 1.24261E-5 40238 0 NA
1-19595839-ACTTGTACTTG-A p.Lys208fs frameshift AKR7L 14 80570 1.73762E-4 40285 0 2.23015E-4
1-19595852-G-A p.Thr206Thr synonymous AKR7L 3 80858 3.71021E-5 40429 0 2.55451E-4
1-19595862-C-T p.Gly203Asp missense AKR7L 1 81082 1.23332E-5 40541 0 8.24171E-6
1-19595869-C-T c.605-4G>A splice_region AKR7L 4 81210 4.9255E-5 40605 0 1.59195E-4
1-19595870-G-A c.605-5C>T splice_region AKR7L 2 81222 2.46239E-5 40611 0 6.36821E-5
1-19596072-C-T c.604+5G>A splice_region AKR7L 1 82190 1.21669E-5 41095 0 1.64758E-5
1-19596073-G-A c.604+4C>T splice_region AKR7L 5 82210 6.08199E-5 41105 0 6.76768E-5
1-19596074-T-A c.604+3A>T splice_region AKR7L 1 82242 1.21592E-5 41121 0 NA
1-19596075-A-T c.604+2T>A splice_donor AKR7L 3 82262 3.64688E-5 41131 0 1.56518E-4
1-19596076-C-T c.604+1G>A splice_donor AKR7L 4 82268 4.86216E-5 41134 0 3.18492E-5
1-19596081-C-T p.Leu200Leu synonymous AKR7L 1 82396 1.21365E-5 41198 0 NA
1-19596086-G-T p.Pro199Thr missense AKR7L 21 82490 2.54576E-4 41245 1 5.41194E-4
1-19596087-G-A p.Asn198Asn synonymous AKR7L 1 82524 1.21177E-5 41262 0 NA
1-19596088-T-A p.Asn198Ile missense AKR7L 6 82516 7.27132E-5 41258 0 1.27462E-4
1-19596091-T-A p.Tyr197Phe missense AKR7L 96 82550 0.00116293 41275 0 0.0027392
1-19596093-G-A p.Ala196Ala synonymous AKR7L 1 82598 1.21068E-5 41299 0 NA
1-19596095-C-T p.Ala196Thr missense AKR7L 1 82622 1.21033E-5 41311 0 1.64761E-5
1-19596102-C-T p.Arg193Arg synonymous AKR7L 14 82768 1.69147E-4 41384 0 4.94291E-5
1-19596102-C-G p.Arg193Ser missense AKR7L 15 82770 1.81225E-4 41385 0 1.75194E-4
1-19596102-C-A p.Arg193Ser missense AKR7L 2 82770 2.41633E-5 41385 0 1.23573E-4
1-19596124-C-T p.Cys186Tyr missense AKR7L 51701 80938 0.638773 40469 16889 0.721178
1-19596138-C-T p.Thr181Thr synonymous AKR7L 10 82976 1.20517E-4 41488 0 5.57649E-5
1-19596139-G-A p.Thr181Met missense AKR7L 11 82966 1.32584E-4 41483 0 2.0606E-4
1-19596141-T-C p.Glu180Glu synonymous AKR7L 1 82950 1.20555E-5 41475 0 8.24212E-6
1-19596147-C-T p.Gln178Gln synonymous AKR7L 1 82968 1.20528E-5 41484 0 NA
1-19596151-C-T p.Arg177Gln missense AKR7L 2 82950 2.41109E-5 41475 0 1.19511E-5
1-19596152-G-A p.Arg177Trp missense AKR7L 4 82960 4.8216E-5 41480 0 4.12235E-5
1-19596154-G-A p.Thr176Ile missense AKR7L 4 82952 4.82207E-5 41476 0 3.29788E-5
1-19596154-GTG-ATT p.ThrThr175ThrIle missense AKR7L 2 82952 2.41103E-5 41476 0 NA
1-19596156-G-T p.Thr175Thr synonymous AKR7L 50992 80406 0.634181 40203 16425 0.72
1-19596157-G-A p.Thr175Ile missense AKR7L 1 82942 1.20566E-5 41471 0 1.66287E-5
1-19596162-G-A p.Ser173Ser synonymous AKR7L 5 82936 6.02874E-5 41468 0 6.36821E-5
1-19596163-C-T p.Ser173Asn missense AKR7L 7 82944 8.43943E-5 41472 0 5.01337E-5
1-19596169-A-G p.Met171Thr missense AKR7L 3 82916 3.61812E-5 41458 0 1.68251E-5
1-19596181-G-C c.508-8C>G splice_region AKR7L 7 82870 8.44696E-5 41435 0 3.59474E-5
1-19596938-C-T c.170+7G>A splice_region AKR7L 1 81670 1.22444E-5 40835 0 NA
1-19596955-G-A p.Thr166Ile missense AKR7L 2 81742 2.44672E-5 40871 0 8.24933E-6
1-19596971-C-T p.Gly161Ser missense AKR7L 9 81860 1.09944E-4 40930 0 2.86679E-4
1-19596976-C-T p.Ala47Thr missense AKR7L 3 81900 3.663E-5 40950 0 1.19403E-5
1-19596985-A-G p.Ser44Pro missense AKR7L 2 81994 2.4392E-5 40997 0 4.7754E-5
1-19596991-C-T p.Val42Ile missense AKR7L 2 82054 2.43742E-5 41027 0 NA
1-19596994-A-T p.Ser41Thr missense AKR7L 3 82082 3.65488E-5 41041 0 2.47284E-5
1-19596995-T-A p.Arg40Ser missense AKR7L 1 82092 1.21815E-5 41046 0 2.47288E-5
1-19596998-C-T p.Glu152Lys missense AKR7L 1 82134 1.21752E-5 41067 0 NA
1-19596999-G-A p.Pro39Leu missense AKR7L 2 82128 2.43522E-5 41064 0 3.18573E-5
1-19597007-C-T p.Glu149Lys missense AKR7L 1 82278 1.21539E-5 41139 0 NA
1-19597013-C-T p.Ala147Thr missense AKR7L 6 82338 7.28704E-5 41169 0 2.4728E-5
1-19597014-G-T p.Pro34Gln missense AKR7L 19 82322 2.30801E-4 41161 0 4.78622E-4
1-19597018-T-C p.Met33Val missense AKR7L 2 82426 2.42642E-5 41213 0 1.64853E-5
1-19597018-T-A p.Met33Leu missense AKR7L 1 82426 1.21321E-5 41213 0 NA
1-19597026-G-A p.Ser30Phe missense AKR7L 9 82460 1.09144E-4 41230 0 0.00130615
1-19597028-G-C p.Leu142Val missense AKR7L 1 82490 1.21227E-5 41245 0 NA
1-19597040-C-T p.Val138Met missense AKR7L 6 82558 7.26762E-5 41279 0 4.46429E-4
1-19597044-C-T p.Ser24Asn missense AKR7L 10 82584 1.21089E-4 41292 0 1.57053E-4
1-19597054-T-A c.66-5A>T splice_region AKR7L 1 82576 1.21101E-5 41288 0 1.65937E-5
1-19597055-C-T c.66-6G>A splice_region AKR7L 2 82578 2.42195E-5 41289 0 3.18654E-5
1-19597056-G-A c.66-7C>T splice_region AKR7L 13 82566 1.5745E-4 41283 0 9.47001E-4
1-19597254-C-T p.Ser18Asn missense AKR7L 32 82334 3.88661E-4 41167 0 7.33138E-4
1-19597265-C-T p.Ala127Thr missense AKR7L 2 82320 2.42954E-5 41160 0 NA
1-19597267-C-T p.Val14Met missense AKR7L 2 82332 2.42919E-5 41166 0 0.00375469
1-19597268-G-A p.Arg126Cys missense AKR7L 2 82336 2.42907E-5 41168 0 1.39649E-4
1-19597274-TC-T p.Arg11fs frameshift AKR7L 2528 82280 0.0307244 41140 57 0.0352143
1-19597283-C-A p.Val121Leu missense AKR7L 7 82286 8.50692E-5 41143 0 2.23058E-4
1-19597285-G-A p.Arg8Trp missense AKR7L 5 82246 6.07932E-5 41123 0 1.9897E-5
1-19597289-C-G p.Ala119Pro missense AKR7L 1438 82086 0.0175182 41043 58 0.0273866
1-19597289-C-T p.Ala119Thr missense AKR7L 2420 81924 0.0295396 40962 56 0.0348556
1-19597290-G-A p.Ala6Val missense AKR7L 7 82164 8.51955E-5 41082 0 6.37146E-5
1-19597293-G-T p.Thr5Lys missense AKR7L 1 82122 1.2177E-5 41061 0 NA
1-19597295-G-C p.His117Asp missense AKR7L 1 82102 1.218E-5 41051 0 NA
1-19597313-A-T p.Tyr111Asn missense AKR7L 1 81658 1.22462E-5 40829 0 8.24606E-6
1-19597319-G-A p.Leu109Phe missense AKR7L 1 81520 1.22669E-5 40760 0 1.6488E-5
1-19597328-A-G p.Ter106Argext*? stop_lost AKR7L 2444 81014 0.0301676 40507 54 0.0345979
1-19597332-A-G p.Cys104Cys synonymous AKR7L 7 80984 8.64368E-5 40492 0 0.001875
1-19597332-A-C p.Cys104Trp missense AKR7L 3 80984 3.70444E-5 40492 0 2.47272E-5
1-19597343-G-T p.Arg101Arg synonymous AKR7L 3 80456 3.72875E-5 40228 0 7.41766E-5
1-19597343-G-A p.Arg101Trp missense AKR7L 3 80456 3.72875E-5 40228 0 6.59348E-5
1-19597348-A-G p.Leu99Pro missense AKR7L 1 80232 1.24639E-5 40116 0 NA
1-19597352-A-G p.Ser98Pro missense AKR7L 1 80024 1.24963E-5 40012 0 NA
1-19597353-C-T p.Thr97Thr synonymous AKR7L 4 79936 5.004E-5 39968 0 4.12072E-5
1-19597354-G-A p.Thr97Met missense AKR7L 11 79884 1.377E-4 39942 0 6.37064E-5
1-19597366-G-T p.Ser93Tyr missense AKR7L 1 79278 1.26138E-5 39639 0 NA
1-19597369-C-T p.Arg92Gln missense AKR7L 6 79028 7.59225E-5 39514 0 6.37105E-5
1-19597370-G-A p.Arg92* stop_gained AKR7L 319 78894 0.0040434 39447 3 0.00863552
1-19597378-T-C p.Asp89Gly missense AKR7L 1 78470 1.27437E-5 39235 0 NA
1-19597378-T-A p.Asp89Val missense AKR7L 1 78470 1.27437E-5 39235 0 NA
1-19597389-G-A p.Ser85Ser synonymous AKR7L 1 77870 1.28419E-5 38935 0 NA
1-19597397-C-T p.Gly83Arg missense AKR7L 1 77476 1.29072E-5 38738 0 3.97852E-6
1-19597404-T-C p.Pro80Pro synonymous AKR7L 1 77036 1.29809E-5 38518 0 NA
1-19597408-T-C p.Asn79Ser missense AKR7L 2 76880 2.60146E-5 38440 0 1.19479E-5
1-19597416-G-C p.Thr76Thr synonymous AKR7L 1 76390 1.30907E-5 38195 0 7.97149E-6
1-19597419-A-G p.Ala75Ala synonymous AKR7L 1 76208 1.3122E-5 38104 0 NA
1-19597420-G-T p.Ala75Asp missense AKR7L 12634 75254 0.167885 37627 955 0.179497
1-19597428-C-T p.Val72Val splice_region+synonymous AKR7L 1 75582 1.32307E-5 37791 0 8.43739E-6
1-19597437-G-A c.-123-8C>T splice_region AKR7L 1 74900 1.33511E-5 37450 0 3.18634E-5
1-19600347-A-C c.-124+8T>G splice_region AKR7L 1 79694 1.2548E-5 39847 0 2.3762E-5
1-19600370-T-C p.Ser67Gly missense AKR7L 1929 79316 0.0243204 39658 49 0.02875
1-19600373-C-G p.Gly66Arg missense AKR7L 15 80278 1.86851E-4 40139 0 6.25E-4
1-19600375-A-T p.Met65Lys missense AKR7L 3 80286 3.73664E-5 40143 0 7.34916E-5
1-19600376-T-G p.Met65Leu missense AKR7L 1417 78380 0.0180786 39190 44 0.02875
1-19600376-TT-GC p.ArgMet64ArgLeu missense AKR7L 3 80272 3.73729E-5 40136 0 NA
1-19600377-T-C p.Arg64Arg synonymous AKR7L 1427 78374 0.0182076 39187 43 0.02875
1-19600382-G-A p.Leu63Phe missense AKR7L 4 80360 4.9776E-5 40180 0 1.57354E-4
1-19600386-C-T p.Leu61Leu synonymous AKR7L 9077 79788 0.113764 39894 676 0.128954
1-19600388-G-A c.-157C>T 5_prime_UTR_premature_start_codon_gain AKR7L 1490 78630 0.0189495 39315 46 0.02875
1-19600395-A-C c.-164T>G 5_prime_UTR_premature_start_codon_gain AKR7L 1551 78744 0.0196967 39372 47 0.02875
1-19600401-G-T p.Thr56Thr synonymous AKR7L 1 80476 1.24261E-5 40238 0 1.61959E-5
1-19600406-C-T p.Glu55Lys missense AKR7L 3235 80194 0.0403397 40097 91 0.05875
1-19600414-C-A p.Gly52Val missense AKR7L 1 80510 1.24208E-5 40255 0 1.67763E-5
1-19600415-C-T p.Gly52Ser missense AKR7L 1 80476 1.24261E-5 40238 0 NA
1-19600416-G-C p.Asp51Glu missense AKR7L 190 80454 0.0023616 40227 0 0.00288725
1-19600423-T-TA p.Tyr49fs frameshift AKR7L 4 80470 4.9708E-5 40235 0 3.21213E-5
1-19600427-G-C p.Leu48Val missense AKR7L 170 80354 0.00211564 40177 0 0.00255594
1-19600432-GC-G p.Ala46fs frameshift AKR7L 2 80392 2.48781E-5 40196 0 1.83157E-5
1-19600445-C-T p.Glu42Lys missense AKR7L 2 80158 2.49507E-5 40079 0 NA
1-19600446-G-T p.Thr41Thr synonymous AKR7L 1 80142 1.24779E-5 40071 0 NA
1-19600457-G-A p.Arg38Cys missense AKR7L 1 79828 1.25269E-5 39914 0 NA
1-19600460-C-T p.Glu37Lys missense AKR7L 1 79810 1.25298E-5 39905 0 NA
1-19600473-C-T p.Thr32Thr synonymous AKR7L 55 79252 6.93989E-4 39626 1 0.0018797
1-19600477-A-C p.Val31Gly missense AKR7L 1 79170 1.2631E-5 39585 0 NA
1-19600478-CTGCGGCGCTGGTGGGCGCGTCCA-C p.Met23fs frameshift AKR7L 2268 78942 0.02873 39471 53 0.027344
1-19600478-CTG-C p.Ala30fs frameshift AKR7L 1 79132 1.26371E-5 39566 0 NA
1-19600481-CGGCGCTGGTGGGCGCGTCCAT-C p.Met23_Ala29del conservative_inframe_deletion AKR7L 1 78798 1.26907E-5 39399 0 NA
1-19600504-C-T p.Arg22His missense AKR7L 1 77298 1.29369E-5 38649 0 1.36095E-5
1-19600504-CGGCGCCCCATCTCCAT-C p.Met17fs frameshift AKR7L 2 77298 2.58739E-5 38649 0 NA
1-19600509-C-G p.Gly20Gly synonymous AKR7L 1 76898 1.30042E-5 38449 0 1.37948E-5
1-19600538-C-T p.Ala11Thr missense AKR7L 6417 69800 0.0919341 34900 319 0.12787
1-19600555-A-G p.Leu5Pro missense AKR7L 17 71826 2.36683E-4 35913 0 8.9905E-4
1-19600558-T-A p.Gln4Leu missense AKR7L 1 71366 1.40123E-5 35683 0 NA
1-19600568-T-C p.Met1? start_lost AKR7L 1 70474 1.41896E-5 35237 0 8.76962E-6