Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-4867205-C-T p.Pro9Leu missense AKR1E2 1 10514 9.51113E-5 5257 0 NA
10-4867218-G-T p.Leu13Phe missense AKR1E2 6 10512 5.70776E-4 5256 0 6.25E-4
10-4867223-G-A p.Arg15His missense AKR1E2 1 10506 9.51837E-5 5253 0 3.18573E-5
10-4867233-G-A c.51+3G>A splice_region AKR1E2 1 10496 9.52744E-5 5248 0 NA
10-4868382-T-A c.-361T>A 5_prime_UTR_premature_start_codon_gain AKR1E2 2 31012 6.44912E-5 15506 0 NA
10-4868427-C-T c.-90C>T 5_prime_UTR_premature_start_codon_gain AKR1E2 9 33960 2.65018E-4 16980 0 0.0025
10-4868431-G-T c.-86G>T 5_prime_UTR_premature_start_codon_gain AKR1E2 1 33984 2.94256E-5 16992 0 NA
10-4868444-C-T c.-73C>T 5_prime_UTR_premature_start_codon_gain AKR1E2 2 33726 5.93014E-5 16863 0 NA
10-4868464-C-T c.-53C>T 5_prime_UTR_premature_start_codon_gain AKR1E2 6 34790 1.72463E-4 17395 1 9.56328E-5
10-4868518-T-A p.Met1? start_lost AKR1E2 2 40152 4.98107E-5 20076 0 NA
10-4868521-G-A p.Gly2Glu missense AKR1E2 3 40666 7.37717E-5 20333 0 NA
10-4868534-C-G p.Ala6Ala synonymous AKR1E2 2 41786 4.78629E-5 20893 0 6.38284E-5
10-4868538-G-A p.Gly8Ser missense AKR1E2 2 42008 4.761E-5 21004 0 NA
10-4868541-C-T p.Leu9Phe missense AKR1E2 1 42050 2.37812E-5 21025 0 NA
10-4868546-C-T p.Ser10Ser synonymous AKR1E2 1 42134 2.37338E-5 21067 0 3.18857E-5
10-4872866-G-C c.40-1G>C splice_acceptor AKR1E2 2 83356 2.39935E-5 41678 0 NA
10-4872876-G-T p.Gly17Trp missense AKR1E2 2 83372 2.39889E-5 41686 0 4.94446E-5
10-4872883-T-G p.Val19Gly missense AKR1E2 1 83368 1.1995E-5 41684 0 NA
10-4872887-C-A p.Thr20Thr synonymous AKR1E2 3227 83302 0.0387386 41651 83 0.0407913
10-4872887-C-T c.-253C>T 5_prime_UTR_premature_start_codon_gain AKR1E2 65 83372 7.79638E-4 41686 0 3.13082E-4
10-4872888-G-A p.Glu21Lys missense AKR1E2 72 83370 8.6362E-4 41685 0 0.003125
10-4872892-C-G p.Ala22Gly missense AKR1E2 2 83366 2.39906E-5 41683 0 NA
10-4872911-C-T c.-229C>T 5_prime_UTR_premature_start_codon_gain AKR1E2 3232 83314 0.038793 41657 83 0.0408923
10-4872911-C-CGCAGGGTACCG p.His33fs frameshift AKR1E2 1 83370 1.19947E-5 41685 0 3.18613E-5
10-4872916-G-T p.Gly30Val missense AKR1E2 4 83368 4.798E-5 41684 0 2.22916E-4
10-4872916-G-A p.Gly30Glu missense AKR1E2 1 83368 1.1995E-5 41684 0 NA
10-4872922-G-A p.Arg32Gln missense AKR1E2 4 83362 4.79835E-5 41681 0 1.19302E-5
10-4872923-G-GCACTT p.Asp35fs frameshift AKR1E2 2 83364 2.39912E-5 41682 0 1.6475E-5
10-4872928-T-C p.Phe34Ser missense AKR1E2 1 83366 1.19953E-5 41683 0 NA
10-4872929-C-T c.-211C>T 5_prime_UTR_premature_start_codon_gain AKR1E2 1 83364 1.19956E-5 41682 0 NA
10-4872930-G-A p.Asp35Asn missense AKR1E2 4309 83292 0.0517337 41646 123 0.0563986
10-4872934-G-A p.Cys36Tyr missense AKR1E2 4 83372 4.79777E-5 41686 0 3.18613E-5
10-4872936-GCTTA-G p.Tyr38fs frameshift AKR1E2 1 83378 1.19936E-5 41689 0 1.27429E-4
10-4872937-C-CT p.Tyr38fs frameshift AKR1E2 3 83380 3.59799E-5 41690 0 8.23859E-6
10-4872952-A-G p.Asn42Ser missense AKR1E2 7 83376 8.3957E-5 41688 0 0.00100705
10-4872954-G-A p.Glu43Lys missense AKR1E2 1 83372 1.19944E-5 41686 0 NA
10-4872973-G-T p.Gly49Val missense AKR1E2 10 83378 1.19936E-4 41689 0 5.03525E-4
10-4872979-G-A p.Arg51His missense AKR1E2 8 83378 9.59486E-5 41689 0 3.50542E-4
10-4872981-T-G p.Cys52Gly missense AKR1E2 184 83378 0.00220682 41689 0 0.00474704
10-4872983-C-A p.Cys52* stop_gained AKR1E2 2 83380 2.39866E-5 41690 0 3.97662E-6
10-4872994-A-T p.Glu56Val missense AKR1E2 4 83384 4.79708E-5 41692 0 NA
10-4872998-C-T p.Gly57Gly synonymous AKR1E2 6 83376 7.19632E-5 41688 0 5.03525E-4
10-4872999-G-A p.Ala58Thr missense AKR1E2 2 83374 2.39883E-5 41687 0 5.03525E-4
10-4873007-A-G p.Arg60Arg synonymous AKR1E2 2 83370 2.39894E-5 41685 0 NA
10-4873029-A-C p.Thr68Pro missense AKR1E2 4 83350 4.79904E-5 41675 0 3.18185E-5
10-4873030-C-A p.Thr68Asn missense AKR1E2 12 83346 1.43978E-4 41673 0 3.57964E-5
10-4873037-A-G c.207+3A>G splice_region AKR1E2 19 83342 2.27976E-4 41671 0 3.8219E-4
10-4873040-G-A c.207+6G>A splice_region AKR1E2 1 83336 1.19996E-5 41668 0 8.24429E-6
10-4875543-T-A p.Leu70Gln missense+splice_region AKR1E2 2 83020 2.40906E-5 41510 0 NA
10-4875549-G-C p.Cys72Ser missense AKR1E2 1 83038 1.20427E-5 41519 0 0.00704935
10-4875549-G-A p.Cys72Tyr missense AKR1E2 2 83042 2.40842E-5 41521 0 6.3743E-5
10-4875552-C-T p.Thr73Ile missense AKR1E2 4 83150 4.81058E-5 41575 0 3.98552E-6
10-4875555-G-T p.Cys74Phe missense AKR1E2 1 83184 1.20215E-5 41592 0 NA
10-4875565-G-A p.Lys77Lys synonymous AKR1E2 1 83250 1.2012E-5 41625 0 1.19301E-5
10-4875576-A-C p.Glu81Ala missense AKR1E2 3 83276 3.60248E-5 41638 0 6.37146E-5
10-4875583-A-C c.-64A>C 5_prime_UTR_premature_start_codon_gain AKR1E2 1 83286 1.20068E-5 41643 0 NA
10-4875591-A-G p.Lys86Arg missense AKR1E2 3212 83250 0.0385826 41625 81 0.0407797
10-4875607-G-A p.Leu91Leu synonymous AKR1E2 1 83308 1.20036E-5 41654 0 NA
10-4875611-C-T c.-36C>T 5_prime_UTR_premature_start_codon_gain AKR1E2 1 83304 1.20042E-5 41652 0 NA
10-4875618-A-G p.Tyr95Cys missense AKR1E2 3 83282 3.60222E-5 41641 0 3.295E-5
10-4875630-A-G p.Tyr99Cys missense AKR1E2 2 83218 2.40333E-5 41609 0 2.78396E-5
10-4875638-C-A p.His102Asn missense AKR1E2 1 83198 1.20195E-5 41599 0 NA
10-4875643-G-T p.Trp103Cys missense AKR1E2 1 83162 1.20247E-5 41581 0 1.27429E-4
10-4875656-A-AAGGTACC p.Phe25fs frameshift AKR1E2 1 83080 1.20366E-5 41540 0 NA
10-4875663-C-T p.Pro24Leu missense AKR1E2 3 82994 3.61472E-5 41497 0 2.47635E-5
10-4875664-G-A c.324+6G>A splice_region AKR1E2 3148 82822 0.0380092 41411 78 0.0408878
10-4875672-GGTAGTTCGTTCT-G c.76+5_76+16delGTAGTTCGTTCT splice_region AKR1E2 1 82864 1.2068E-5 41432 0 NA
10-4877861-T-TC c.325-6_325-5insC splice_region AKR1E2 1 82624 1.2103E-5 41312 0 3.00315E-4
10-4877862-C-T c.325-5C>T splice_region AKR1E2 12 82660 1.45173E-4 41330 0 9.56206E-5
10-4877863-G-A c.325-4G>A splice_region AKR1E2 1 82594 1.21074E-5 41297 0 8.33042E-6
10-4877871-C-G p.Pro110Arg missense AKR1E2 197 82846 0.00237791 41423 1 0.00538525
10-4877885-A-C p.Ile115Leu missense AKR1E2 1 83050 1.20409E-5 41525 0 NA
10-4877888-ATGAGCTGCAG-A p.Ser117fs frameshift AKR1E2 2 83088 2.40709E-5 41544 0 1.65235E-5
10-4877903-C-T p.Leu121Phe missense AKR1E2 1 83142 1.20276E-5 41571 0 1.65014E-5
10-4877907-C-T p.Ser122Phe missense AKR1E2 2 83162 2.40494E-5 41581 0 3.18471E-5
10-4877926-T-G p.Pro128Pro synonymous AKR1E2 1 83208 1.20181E-5 41604 0 3.18451E-5
10-4877928-G-A p.Arg129Gln missense AKR1E2 1 83210 1.20178E-5 41605 0 1.59115E-5
10-4877931-T-C p.Val130Ala missense AKR1E2 3 83212 3.60525E-5 41606 0 3.18532E-5
10-4877934-AG-A p.Asp132fs frameshift AKR1E2 74 83210 8.89316E-4 41605 0 0.00200599
10-4877937-A-C p.Asp132Ala missense AKR1E2 2 83198 2.4039E-5 41599 0 2.38677E-5
10-4877950-C-T p.Asp136Asp synonymous AKR1E2 4 83200 4.80769E-5 41600 0 6.36983E-5
10-4877951-G-A p.Glu137Lys missense AKR1E2 2 83196 2.40396E-5 41598 0 3.18451E-5
10-4877957-A-C p.Asn139His missense AKR1E2 1 83192 1.20204E-5 41596 0 NA
10-4877960-A-G p.Met140Val missense AKR1E2 1 83182 1.20218E-5 41591 0 8.75169E-5
10-4877980-G-A p.Thr146Thr synonymous AKR1E2 1 83114 1.20317E-5 41557 0 1.19412E-5
10-4877994-C-T p.Thr151Met missense AKR1E2 1 83038 1.20427E-5 41519 0 1.65093E-5
10-4877995-G-A p.Thr151Thr synonymous AKR1E2 3 83040 3.61272E-5 41520 0 3.30186E-5
10-4877999-G-A p.Glu153Lys missense+splice_region AKR1E2 1 83028 1.20441E-5 41514 0 5.78187E-5
10-4879631-G-T n.196-4G>T splice_region AKR1E2 1 83320 1.20019E-5 41660 0 NA
10-4879648-T-C c.460-3T>C splice_region AKR1E2 1 83344 1.19985E-5 41672 0 NA
10-4879659-G-A p.Glu156Glu synonymous AKR1E2 1 83350 1.19976E-5 41675 0 3.9769E-6
10-4879671-C-G p.Ile160Met missense AKR1E2 12 83344 1.43982E-4 41672 0 3.18492E-5
10-4879673-C-A p.Thr161Asn missense AKR1E2 1 83350 1.19976E-5 41675 0 NA
10-4879673-C-G p.Thr161Ser missense AKR1E2 1 83350 1.19976E-5 41675 0 NA
10-4879674-C-T p.Thr161Thr synonymous AKR1E2 1 83348 1.19979E-5 41674 0 6.36902E-5
10-4879675-G-A p.Gly162Arg missense AKR1E2 6 83342 7.19925E-5 41671 0 9.55353E-5
10-4879682-T-G p.Val164Gly missense AKR1E2 1 83348 1.19979E-5 41674 0 NA
10-4879683-G-A p.Val164Val synonymous AKR1E2 18 83354 2.15946E-4 41677 0 0.00151057
10-4879689-C-T p.Asn166Asn synonymous AKR1E2 1 83346 1.19982E-5 41673 0 NA
10-4879692-C-T p.Ile167Ile synonymous AKR1E2 6 83342 7.19925E-5 41671 0 9.56206E-5
10-4879704-C-T p.Asn171Asn synonymous AKR1E2 1 83350 1.19976E-5 41675 0 NA
10-4879719-G-T p.Gln176His missense AKR1E2 1 83348 1.19979E-5 41674 0 8.2428E-6
10-4879720-C-T p.Leu177Phe missense AKR1E2 1 83340 1.1999E-5 41670 0 1.64853E-5
10-4879734-G-T p.Leu181Phe missense AKR1E2 2 83332 2.40004E-5 41666 0 6.37227E-5
10-4879736-A-G p.Asn182Ser missense AKR1E2 9 83334 1.07999E-4 41667 0 3.18613E-5
10-4879741-C-T p.Pro184Ser missense AKR1E2 15 83318 1.80033E-4 41659 0 1.91192E-4
10-4879748-T-G p.Leu186Trp missense AKR1E2 1244 83286 0.0149365 41643 15 0.011124
10-4879751-G-A p.Arg187Lys missense AKR1E2 2 83300 2.40096E-5 41650 0 3.98222E-6
10-4879754-T-C p.Phe188Ser missense AKR1E2 1 83238 1.20137E-5 41619 0 1.50055E-4
10-4879767-C-G p.Thr192Thr synonymous AKR1E2 26 83306 3.12102E-4 41653 0 7.32577E-4
10-4879770-C-A p.Asn193Lys missense AKR1E2 1 83300 1.20048E-5 41650 0 NA
10-4879774-G-A c.582+1G>A splice_donor AKR1E2 3 83286 3.60205E-5 41643 0 3.97981E-6
10-4879781-G-A c.582+8G>A splice_region AKR1E2 11 83262 1.32113E-4 41631 0 0.00125156
10-4881914-G-T c.583-7G>T splice_region AKR1E2 2 83090 2.40703E-5 41545 0 3.18512E-5
10-4881920-G-A c.583-1G>A splice_acceptor AKR1E2 1 83178 1.20224E-5 41589 0 NA
10-4881921-A-C p.Ile195Leu missense+splice_region AKR1E2 1 83192 1.20204E-5 41596 0 1.98825E-5
10-4881935-A-G p.Pro199Pro synonymous AKR1E2 3173 83122 0.0381728 41561 78 0.0408333
10-4881945-CA-C p.Gln203fs frameshift AKR1E2 20 83292 2.40119E-4 41646 0 0.00151057
10-4881945-C-G p.Gln203Glu missense AKR1E2 14 83292 1.68083E-4 41646 0 0.00125
10-4881948-A-T p.Lys204* stop_gained AKR1E2 7 83292 8.40417E-5 41646 0 5.96436E-5
10-4881969-C-T p.Gln211* stop_gained AKR1E2 2 83308 2.40073E-5 41654 0 3.18573E-5
10-4881981-G-T p.Val215Leu missense AKR1E2 1 83320 1.20019E-5 41660 0 NA
10-4881985-C-A p.Ser216Tyr missense AKR1E2 2 83314 2.40056E-5 41657 0 4.37393E-5
10-4881987-G-A p.Val217Met missense AKR1E2 9 83310 1.0803E-4 41655 0 0.001875
10-4881991-C-G p.Thr218Ser missense AKR1E2 1 83304 1.20042E-5 41652 0 NA
10-4881999-C-T p.Arg221Cys missense AKR1E2 1 83272 1.20088E-5 41636 0 4.9421E-5
10-4882009-G-A p.Gly224Asp missense AKR1E2 2 83232 2.40292E-5 41616 0 8.35043E-5
10-4882016-G-A p.Ser226Ser splice_region+synonymous AKR1E2 1 83208 1.20181E-5 41604 0 1.07084E-4
10-4883976-G-T c.681-1G>T splice_acceptor AKR1E2 1 83062 1.20392E-5 41531 0 8.50311E-6
10-4883980-G-C p.Glu228Asp missense AKR1E2 1 83090 1.20351E-5 41545 0 NA
10-4883982-G-A p.Gly229Glu missense AKR1E2 1 83100 1.20337E-5 41550 0 1.19975E-5
10-4883985-T-C p.Val230Ala missense AKR1E2 2 83096 2.40685E-5 41548 0 8.45194E-6
10-4883992-G-C p.Leu232Leu synonymous AKR1E2 1 83116 1.20314E-5 41558 0 NA
10-4883993-A-G p.Ile233Val missense AKR1E2 2 83118 2.40622E-5 41559 0 6.25E-4
10-4883994-T-C p.Ile233Thr missense AKR1E2 1 83102 1.20334E-5 41551 0 NA
10-4883995-A-G p.Ile233Met missense AKR1E2 8 83106 9.62626E-5 41553 0 3.99049E-6
10-4884002-C-T p.Pro236Ser missense AKR1E2 3 83122 3.60915E-5 41561 0 3.18837E-5
10-4884002-C-G p.Pro236Ala missense AKR1E2 1 83122 1.20305E-5 41561 0 1.67884E-5
10-4884009-T-C p.Ile238Thr missense AKR1E2 1 83108 1.20325E-5 41554 0 7.97385E-6
10-4884013-G-A p.Lys239Lys synonymous AKR1E2 1 83114 1.20317E-5 41557 0 NA
10-4884020-G-A p.Ala242Thr missense AKR1E2 1 83090 1.20351E-5 41545 0 7.97029E-6
10-4884021-C-T p.Ala242Val missense AKR1E2 1 83082 1.20363E-5 41541 0 8.42915E-6
10-4884031-C-T p.His32His splice_region+synonymous AKR1E2 5 82968 6.02642E-5 41484 1 9.56267E-5
10-4884032-G-A p.Asp33Asn missense+splice_region AKR1E2 15 82956 1.80819E-4 41478 0 6.25E-4
10-4884033-G-A c.97+1G>A splice_donor AKR1E2 2 82934 2.41156E-5 41467 0 3.9888E-6
10-4884037-G-A c.97+5G>A splice_region AKR1E2 2 82916 2.41208E-5 41458 0 NA
10-4884038-T-G p.Ser248Ala missense AKR1E2 4 82888 4.82579E-5 41444 0 4.26483E-5
10-4884038-T-C p.Ser248Pro missense AKR1E2 1 82888 1.20645E-5 41444 0 NA
10-4884039-C-A p.Ser248Tyr missense AKR1E2 21 82900 2.53317E-4 41450 0 3.82458E-4
10-4884042-C-T p.Pro249Leu missense AKR1E2 1 82860 1.20685E-5 41430 0 NA
10-4884042-C-A p.Pro249His missense AKR1E2 5 82860 6.03427E-5 41430 0 5.14836E-5
10-4884042-C-G p.Pro249Arg missense AKR1E2 1 82860 1.20685E-5 41430 0 3.98995E-6
10-4884044-G-C p.Ala250Pro missense AKR1E2 1 82798 1.20776E-5 41399 0 NA
10-4884047-C-T p.Gln251* stop_gained AKR1E2 2 82730 2.4175E-5 41365 0 1.19805E-5
10-4884048-A-T p.Gln251Leu missense+splice_region AKR1E2 5 82708 6.04536E-5 41354 0 5.20345E-5
10-4884610-C-G c.754-3C>G splice_region AKR1E2 1 83212 1.20175E-5 41606 0 1.59236E-5
10-4884610-C-A c.754-3C>A splice_region AKR1E2 4 83212 4.807E-5 41606 0 3.18593E-5
10-4884621-C-T p.Pro36Ser missense AKR1E2 3 83228 3.60456E-5 41614 0 7.9583E-6
10-4884622-C-T p.Arg255* stop_gained AKR1E2 2 83228 2.40304E-5 41614 0 3.18552E-5
10-4884623-G-A p.Arg255Gln missense AKR1E2 1 83236 1.2014E-5 41618 0 3.18492E-5
10-4884623-G-T p.Arg255Leu missense AKR1E2 1 83236 1.2014E-5 41618 0 4.12317E-5
10-4884642-T-C p.Cys43Arg missense AKR1E2 3197 83138 0.0384541 41569 83 0.0408101
10-4884656-C-G p.Pro266Arg missense AKR1E2 3 83228 3.60456E-5 41614 0 5.76996E-5
10-4884656-C-T p.Pro266Leu missense AKR1E2 7 83228 8.41063E-5 41614 0 2.70535E-4
10-4884657-C-T p.Arg48Trp missense AKR1E2 1 83226 1.20155E-5 41613 0 1.19345E-5
10-4884658-G-A p.Gly267Arg missense AKR1E2 12 83218 1.442E-4 41609 0 3.18512E-5
10-4884668-C-A p.Thr270Asn missense AKR1E2 2 83198 2.4039E-5 41599 0 1.9786E-4
10-4884685-G-C p.Glu276Gln missense AKR1E2 2 83168 2.40477E-5 41584 0 1.59186E-5
10-4884698-T-G c.837+2T>G splice_donor AKR1E2 3 83074 3.61124E-5 41537 0 3.18451E-5
10-4884703-G-A c.837+7G>A splice_region AKR1E2 1 83030 1.20438E-5 41515 0 7.96762E-6
10-4887969-G-C n.455-1G>C splice_acceptor AKR1E2 1 52786 1.89444E-5 26393 0 6.15915E-5
10-4888003-A-G n.488A>G splice_region AKR1E2 1 52626 1.9002E-5 26313 0 NA
10-4889336-C-T c.838-4C>T splice_region AKR1E2 1 83214 1.20172E-5 41607 0 3.99517E-6
10-4889340-G-T p.Val280Leu missense+splice_region AKR1E2 1 83230 1.20149E-5 41615 0 NA
10-4889344-T-C p.Phe281Ser missense AKR1E2 1 83248 1.20123E-5 41624 0 3.98889E-6
10-4889363-G-A p.Gln287Gln synonymous AKR1E2 1 83252 1.20117E-5 41626 0 NA
10-4889366-C-T p.His288His synonymous AKR1E2 1 83246 1.20126E-5 41623 0 3.97772E-6
10-4889367-G-A p.Asp289Asn missense AKR1E2 3 83252 3.60352E-5 41626 0 7.41461E-5
10-4889391-A-G p.Asn297Asp missense AKR1E2 1 83232 1.20146E-5 41616 0 NA
10-4889395-G-C p.Arg298Thr missense AKR1E2 1 83230 1.20149E-5 41615 0 NA
10-4889398-A-G p.Asn299Ser missense AKR1E2 1 83236 1.2014E-5 41618 0 5.96559E-5
10-4889403-C-T p.Arg301* stop_gained AKR1E2 8903 83072 0.107172 41536 520 0.112534
10-4889404-G-A p.Arg301Gln missense AKR1E2 2 83206 2.40367E-5 41603 0 8.23995E-6
10-4889412-A-G p.Met304Val missense AKR1E2 2 83204 2.40373E-5 41602 0 2.47223E-5
10-4889420-C-T p.Pro306Pro splice_region+synonymous AKR1E2 4 83176 4.80908E-5 41588 0 6.36943E-5
10-4889421-A-G p.Ile307Val missense+splice_region AKR1E2 9 83170 1.08212E-4 41585 0 4.37543E-5
10-4889423-G-C c.920+1G>C splice_donor AKR1E2 1 83166 1.20241E-5 41583 0 8.24185E-6
10-4889423-G-A c.920+1G>A splice_donor AKR1E2 10 83166 1.20241E-4 41583 0 0.00125
10-4889425-A-T p.Ter308Leuext*? stop_lost AKR1E2 24 83162 2.88593E-4 41581 0 2.54613E-4
10-4889428-T-C c.920+6T>C splice_region AKR1E2 4 83156 4.81024E-5 41578 0 2.22887E-4
10-4889430-T-C c.920+8T>C splice_region AKR1E2 2 83144 2.40547E-5 41572 0 2.47288E-5
10-4889491-G-A c.*65G>A splice_region AKR1E2 4 82410 4.85378E-5 41205 0 NA
10-4889491-G-C c.*65G>C splice_region AKR1E2 3 82408 3.64042E-5 41204 0 NA
10-4889496-T-C c.*65+5T>C splice_region AKR1E2 1 82352 1.2143E-5 41176 0 3.18431E-5
10-4889685-A-G p.Lys309Arg missense AKR1E2 6 83182 7.2131E-5 41591 0 3.21963E-4