Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-4995181-A-G c.-186A>G 5_prime_UTR_premature_start_codon_gain AKR1C1 1 1178 8.48896E-4 589 0 NA
10-5005454-G-A c.-183G>A splice_region AKR1C1 68 45338 0.00149985 22669 0 0.00335765
10-5005462-C-T c.-175C>T 5_prime_UTR_premature_start_codon_gain AKR1C1 1 48744 2.05153E-5 24372 0 NA
10-5005549-G-C c.-88G>C 5_prime_UTR_premature_start_codon_gain AKR1C1 11754 72622 0.161852 36311 1011 0.25
10-5005613-T-A c.-24T>A 5_prime_UTR_premature_start_codon_gain AKR1C1 2 83312 2.40061E-5 41656 0 NA
10-5005627-A-G c.-10A>G 5_prime_UTR_premature_start_codon_gain AKR1C1 2 83356 2.39935E-5 41678 0 NA
10-5005639-G-A p.Met1? start_lost AKR1C1 1 83340 1.1999E-5 41670 0 9.55657E-5
10-5005639-G-T p.Met1? start_lost AKR1C1 1 83340 1.1999E-5 41670 0 1.19322E-4
10-5005644-C-T p.Ser3Leu missense AKR1C1 6 83336 7.19977E-5 41668 0 3.18573E-5
10-5005645-G-A p.Ser3Ser synonymous AKR1C1 1 83336 1.19996E-5 41668 0 9.88745E-5
10-5005651-T-C p.Tyr5Tyr synonymous AKR1C1 2025 83206 0.0243372 41603 155 0.0543173
10-5005651-T-G p.Tyr5* stop_gained AKR1C1 1 83324 1.20013E-5 41662 0 NA
10-5005668-A-G p.Asn11Ser missense AKR1C1 1 83266 1.20097E-5 41633 0 3.97772E-6
10-5005677-A-G p.His14Arg missense AKR1C1 1 83214 1.20172E-5 41607 0 3.97801E-6
10-5005687-T-G p.Pro17Pro synonymous AKR1C1 1 83120 1.20308E-5 41560 0 NA
10-5005688-G-A p.Val18Ile missense AKR1C1 5 83102 6.0167E-5 41551 0 6.24712E-4
10-5005701-G-A p.Gly22Asp missense AKR1C1 1 82848 1.20703E-5 41424 0 NA
10-5005703-A-C p.Thr23Pro missense AKR1C1 49 82784 5.91902E-4 41392 0 0.00151057
10-5005703-A-G p.Thr23Ala missense AKR1C1 1 82788 1.2079E-5 41394 0 2.47304E-5
10-5005710-C-T p.Ala25Val missense AKR1C1 4 82518 4.84743E-5 41259 0 1.3939E-4
10-5005711-G-A p.Ala25Ala synonymous AKR1C1 4 82422 4.85307E-5 41211 0 6.42343E-5
10-5006022-T-C p.Cys9Cys synonymous AKR1C1 1 49820 2.00723E-5 24910 0 NA
10-5006028-C-T p.Val11Val synonymous AKR1C1 1 48972 2.04198E-5 24486 0 1.03339E-4
10-5006028-C-G p.Val11Val synonymous AKR1C1 1 48972 2.04198E-5 24486 0 NA
10-5006029-G-A p.Glu12Lys missense AKR1C1 1 48794 2.04943E-5 24397 0 7.06193E-5
10-5006034-G-C p.Gln13His missense AKR1C1 1 48440 2.06441E-5 24220 0 NA
10-5006041-A-G p.Thr16Ala missense AKR1C1 1 47472 2.1065E-5 23736 0 NA
10-5006055-G-A p.Lys20Lys synonymous AKR1C1 219 46996 0.00465997 23498 2 0.0131043
10-5006081-C-G p.Ala29Gly missense AKR1C1 6 46128 1.30073E-4 23064 0 4.21148E-4
10-5006086-G-A c.90+1G>A splice_donor AKR1C1 1 45846 2.18122E-5 22923 0 NA
10-5006087-T-G c.90+2T>G splice_donor AKR1C1 18 45774 3.93236E-4 22887 0 9.66557E-4
10-5008106-G-A p.Val31Ile missense+splice_region AKR1C1 1 83316 1.20025E-5 41658 0 3.3253E-5
10-5008114-A-G p.Lys33Lys synonymous AKR1C1 2 83338 2.39987E-5 41669 0 7.98231E-6
10-5008120-AG-A p.Ala36fs frameshift AKR1C1 2 83350 2.39952E-5 41675 0 8.27513E-6
10-5008132-C-T p.Ala39Ala synonymous AKR1C1 1 83360 1.19962E-5 41680 0 2.47676E-5
10-5008137-A-G p.Lys41Arg missense AKR1C1 158 83374 0.00189508 41687 4 0.00334288
10-5008140-T-G p.Leu42Trp missense AKR1C1 1 83372 1.19944E-5 41686 0 3.18431E-5
10-5008142-G-A p.Ala43Thr missense AKR1C1 1 83374 1.19941E-5 41687 0 3.98004E-6
10-5008146-T-C p.Ile44Thr missense AKR1C1 1 83380 1.19933E-5 41690 0 3.1835E-5
10-5008148-G-A p.Glu45Lys missense AKR1C1 5 83384 5.99635E-5 41692 0 2.47313E-5
10-5008149-A-T p.Glu45Val missense AKR1C1 3 83382 3.5979E-5 41691 0 6.36699E-5
10-5008150-AGCTG-A p.Gly47fs frameshift AKR1C1 4 83386 4.79697E-5 41693 0 NA
10-5008156-C-A p.Gly47Gly synonymous AKR1C1 1 83384 1.19927E-5 41692 0 8.24185E-6
10-5008159-C-G p.Phe48Leu missense AKR1C1 1 83388 1.19921E-5 41694 0 3.1835E-5
10-5008160-C-T p.Arg49Cys missense AKR1C1 5 83384 5.99635E-5 41692 0 0.00125
10-5008161-G-A p.Arg49His missense AKR1C1 12 83388 1.43906E-4 41694 0 6.25E-4
10-5008161-G-T p.Arg49Leu missense AKR1C1 1 83388 1.19921E-5 41694 0 2.78487E-5
10-5008161-GCC-TCT p.ArgHis49LeuTyr missense AKR1C1 1 83388 1.19921E-5 41694 0 NA
10-5008163-C-T p.His50Tyr missense AKR1C1 1 83390 1.19918E-5 41695 0 2.78456E-5
10-5008164-A-G p.His50Arg missense AKR1C1 2 83390 2.39837E-5 41695 0 7.9545E-6
10-5008167-T-C p.Ile51Thr missense AKR1C1 4 83396 4.79639E-5 41698 0 2.54728E-4
10-5008177-T-A p.Ala54Ala synonymous AKR1C1 43 83378 5.15724E-4 41689 0 0.00106295
10-5008178-C-T p.His55Tyr missense AKR1C1 2 83386 2.39848E-5 41693 0 NA
10-5008181-T-G p.Leu56Val missense AKR1C1 43 83382 5.15699E-4 41691 0 0.00106295
10-5008183-A-T p.Leu56Phe missense AKR1C1 42 83380 5.03718E-4 41690 0 0.00106295
10-5008203-T-A p.Val27Asp missense+splice_region AKR1C1 2 83374 2.39883E-5 41687 0 NA
10-5008205-G-A p.Gly64Arg missense AKR1C1 1 83368 1.1995E-5 41684 0 3.97829E-6
10-5008217-C-T p.Arg68* stop_gained AKR1C1 8 83340 9.59923E-5 41670 0 6.25E-4
10-5008217-C-A p.Arg68Arg synonymous AKR1C1 1 83340 1.1999E-5 41670 0 1.98934E-5
10-5008218-G-A p.Arg68Gln missense AKR1C1 3 83338 3.5998E-5 41669 0 8.24307E-6
10-5008227-T-C p.Ile71Thr missense AKR1C1 2 83338 2.39987E-5 41669 0 3.97915E-6
10-5008255-C-T p.Asp80Asp synonymous AKR1C1 1 83198 1.20195E-5 41599 0 3.18451E-5
10-5008275-T-C c.258+2T>C splice_donor AKR1C1 1 82980 1.20511E-5 41490 0 1.22379E-5
10-5008278-T-C c.258+5T>C splice_region AKR1C1 4 82920 4.82393E-5 41460 0 2.04282E-5
10-5009123-G-C p.Trp88Ser missense AKR1C1 1 82140 1.21743E-5 41070 0 4.03112E-6
10-5009125-T-A p.Cys89Ser missense AKR1C1 2 82150 2.43457E-5 41075 0 1.07257E-4
10-5009137-C-A p.Arg93Arg synonymous AKR1C1 1 82220 1.21625E-5 41110 0 3.18451E-5
10-5009138-G-A p.Arg93Gln missense AKR1C1 9 82234 1.09444E-4 41117 0 0.00111607
10-5009138-G-C p.Arg93Pro missense AKR1C1 2 82234 2.43208E-5 41117 0 NA
10-5009140-C-A p.Pro94Thr missense AKR1C1 2 82260 2.43132E-5 41130 0 8.24266E-6
10-5009143-G-C p.Glu95Gln missense AKR1C1 1 82284 1.2153E-5 41142 0 NA
10-5009145-G-A p.Glu95Glu synonymous AKR1C1 2 82288 2.43049E-5 41144 0 6.77615E-5
10-5009147-T-C p.Leu96Ser missense AKR1C1 1 82296 1.21513E-5 41148 0 NA
10-5009152-C-T p.Arg98* stop_gained AKR1C1 6 82318 7.28881E-5 41159 0 0.001875
10-5009170-T-A p.Ser104Thr missense AKR1C1 1 82544 1.21148E-5 41272 0 1.64772E-5
10-5009187-A-G p.Gln109Gln synonymous AKR1C1 1 82694 1.20928E-5 41347 0 1.64772E-5
10-5009188-T-C p.Leu110Leu synonymous AKR1C1 370 82686 0.00447476 41343 4 0.0056701
10-5009193-T-C p.Asp111Asp synonymous AKR1C1 475 82262 0.00577423 41131 2 0.00713376
10-5009203-C-G p.Leu115Val missense AKR1C1 6 82856 7.24148E-5 41428 0 1.83181E-4
10-5009206-T-C p.Tyr116His missense AKR1C1 1 82896 1.20633E-5 41448 0 NA
10-5009208-C-T p.Tyr116Tyr synonymous AKR1C1 2 82924 2.41185E-5 41462 0 5.06586E-4
10-5009215-C-G p.His119Asp missense AKR1C1 1 82978 1.20514E-5 41489 0 8.24035E-6
10-5009216-A-C p.His119Pro missense AKR1C1 4 82990 4.81986E-5 41495 0 3.18613E-5
10-5009237-T-C c.375+2T>C splice_donor AKR1C1 1 83110 1.20322E-5 41555 0 9.18237E-5
10-5010523-A-G p.Lys133Arg missense AKR1C1 1 70550 1.41743E-5 35275 0 8.63334E-5
10-5010524-AG-A p.Asp134fs frameshift AKR1C1 1 70636 1.41571E-5 35318 0 6.00478E-6
10-5010527-T-A p.Asp134Glu missense AKR1C1 5 70658 7.07634E-5 35329 0 1.21882E-4
10-5010528-GA-G p.Asn136fs frameshift AKR1C1 1 70684 1.41475E-5 35342 0 NA
10-5010532-A-G p.Asn136Ser missense AKR1C1 1 70672 1.41499E-5 35336 0 NA
10-5010553-C-T p.Thr143Ile missense AKR1C1 6 69730 8.60462E-5 34865 0 0.00104966
10-5010554-A-T p.Thr143Thr synonymous AKR1C1 1 69694 1.43484E-5 34847 0 NA
10-5010565-G-A p.Cys147Tyr missense AKR1C1 2 68728 2.91002E-5 34364 0 NA
10-5010571-C-T p.Thr149Ile missense AKR1C1 8 68188 1.17323E-4 34094 0 0.00287463
10-5010572-A-G p.Thr149Thr synonymous AKR1C1 56744 56870 0.997784 28435 28313 0.997659
10-5011006-T-G c.454-8T>G splice_region AKR1C1 1648 83322 0.0197787 41661 18 0.04375
10-5011014-G-C p.Ala152Pro missense+splice_region AKR1C1 4 83402 4.79605E-5 41701 0 7.5575E-5
10-5011016-C-T p.Ala152Ala splice_region+synonymous AKR1C1 1 83406 1.19895E-5 41703 0 1.64761E-5
10-5011017-G-A p.Val153Met missense AKR1C1 9 83398 1.07916E-4 41699 0 5.28541E-4
10-5011033-A-C p.Asp158Ala missense AKR1C1 1 83412 1.19887E-5 41706 0 3.97633E-6
10-5011036-C-A p.Ala159Glu missense AKR1C1 3 83410 3.59669E-5 41705 0 1.6475E-5
10-5011053-A-C p.Ile165Leu missense AKR1C1 1 83406 1.19895E-5 41703 0 3.9763E-6
10-5011055-C-T p.Ile165Ile synonymous AKR1C1 83 83400 9.95204E-4 41700 0 0.00114672
10-5011055-C-G p.Ile165Met missense AKR1C1 5 83400 5.9952E-5 41700 0 1.27413E-4
10-5011063-C-A p.Ser168Tyr missense AKR1C1 1 83406 1.19895E-5 41703 0 3.18107E-5
10-5011070-C-T p.Phe170Phe synonymous AKR1C1 1 83406 1.19895E-5 41703 0 NA
10-5011072-A-G p.Asn171Ser missense AKR1C1 6 83406 7.19373E-5 41703 0 3.18471E-5
10-5011074-C-T p.Arg172Cys missense AKR1C1 11 83404 1.31888E-4 41702 0 5.29101E-4
10-5011075-G-A p.Arg172His missense AKR1C1 325 83176 0.00390738 41588 1 0.00942795
10-5011076-C-T p.Arg172Arg synonymous AKR1C1 21 83406 2.5178E-4 41703 0 6.05173E-4
10-5011081-A-T p.Gln174Leu missense AKR1C1 5 83400 5.9952E-5 41700 0 6.25E-4
10-5011088-G-T p.Glu176Asp missense AKR1C1 1 83406 1.19895E-5 41703 0 3.97633E-6
10-5011092-A-T p.Ile178Phe missense AKR1C1 1 83408 1.19893E-5 41704 0 NA
10-5011100-C-G p.Asn180Lys missense AKR1C1 1 83402 1.19901E-5 41701 0 1.9882E-5
10-5011103-G-A p.Lys181Lys synonymous AKR1C1 1 83402 1.19901E-5 41701 0 6.25E-4
10-5011108-G-A p.Gly183Glu missense AKR1C1 1 83408 1.19893E-5 41704 0 NA
10-5011109-G-T p.Gly183Gly synonymous AKR1C1 1 83408 1.19893E-5 41704 0 NA
10-5011115-G-A p.Lys185Lys synonymous AKR1C1 368 83396 0.00441268 41698 7 0.00977894
10-5011119-A-C p.Lys187Gln missense AKR1C1 1 83404 1.19898E-5 41702 0 1.59067E-5
10-5011143-A-G c.576+7A>G splice_region AKR1C1 9 83380 1.0794E-4 41690 0 1.31841E-4
10-5011144-C-A c.576+8C>A splice_region AKR1C1 1 83392 1.19916E-5 41696 0 3.97902E-5
10-5011859-T-C c.577-8T>C splice_region AKR1C1 2 52932 3.77843E-5 26466 0 6.28931E-4
10-5011862-T-C c.577-5T>C splice_region AKR1C1 2 52980 3.77501E-5 26490 0 2.07512E-5
10-5011863-G-T c.577-4G>T splice_region AKR1C1 4 53002 7.54689E-5 26501 0 NA
10-5011863-G-A c.577-4G>A splice_region AKR1C1 3 52998 5.66059E-5 26499 0 2.0722E-5
10-5011879-T-A p.Ser197Thr missense AKR1C1 1 53200 1.8797E-5 26600 0 NA
10-5011885-T-A p.Phe199Ile missense AKR1C1 3 53236 5.63528E-5 26618 0 8.73973E-5
10-5011895-G-T p.Ser202Ile missense AKR1C1 1 53274 1.87709E-5 26637 0 NA
10-5012132-T-C c.*224T>C splice_region AKR1C1 2 34274 5.83533E-5 17137 0 NA
10-5014424-A-C p.Lys201Thr missense AKR1C1 1 81172 1.23195E-5 40586 0 9.5816E-5
10-5014428-G-T p.Leu202Leu synonymous AKR1C1 2 81340 2.45881E-5 40670 0 6.38366E-5
10-5014438-T-C p.Cys206Arg missense AKR1C1 1 81668 1.22447E-5 40834 0 2.78649E-5
10-5014459-C-G p.Leu213Val missense AKR1C1 2 82684 2.41885E-5 41342 0 NA
10-5014460-T-A p.Leu213Gln missense AKR1C1 17 82686 2.05597E-4 41343 0 0.00317797
10-5014461-G-T p.Leu213Leu synonymous AKR1C1 3 82744 3.62564E-5 41372 0 7.95754E-6
10-5014468-T-A p.Tyr216Asn missense AKR1C1 2 82882 2.41307E-5 41441 0 1.31926E-4
10-5014470-T-TA p.Ser217fs frameshift AKR1C1 1 82916 1.20604E-5 41458 0 3.97864E-6
10-5014471-A-G p.Ser217Gly missense AKR1C1 1 82938 1.20572E-5 41469 0 1.64902E-5
10-5014483-T-A p.Ser221Thr missense AKR1C1 95 82954 0.00114521 41477 0 0.00211416
10-5014484-C-A p.Ser221Tyr missense AKR1C1 94 82970 0.00113294 41485 0 0.00264271
10-5014488-C-T p.His222His synonymous AKR1C1 35 76686 4.56407E-4 38343 1 0.0776564
10-5014490-G-A p.Arg223Gln missense AKR1C1 1 83032 1.20435E-5 41516 0 3.98333E-6
10-5014501-T-C p.Trp227Arg missense+splice_region AKR1C1 1 82992 1.20494E-5 41496 0 2.4728E-5
10-5014502-G-A p.Trp227* stop_gained AKR1C1 1 82982 1.20508E-5 41491 0 NA
10-5014503-G-A c.680+1G>A splice_donor AKR1C1 15 82968 1.80793E-4 41484 1 3.84148E-4
10-5014503-G-C c.680+1G>C splice_donor AKR1C1 5 82970 6.02627E-5 41485 0 9.60369E-5
10-5014504-TA-T c.680+3delA splice_region AKR1C1 28 82960 3.37512E-4 41480 1 0.0014837
10-5014768-C-G c.681-8C>G splice_region AKR1C1 1 82990 1.20496E-5 41495 0 8.31283E-6
10-5014770-T-A c.681-6T>A splice_region AKR1C1 2 82974 2.41039E-5 41487 0 3.19101E-5
10-5014776-G-A p.Trp227* stop_gained AKR1C1 2 82928 2.41173E-5 41464 0 6.38366E-5
10-5014793-C-T p.Pro233Leu missense AKR1C1 2 82800 2.41546E-5 41400 0 8.39433E-6
10-5014809-C-A p.Asp238Glu missense AKR1C1 1 82436 1.21306E-5 41218 0 4.18915E-5
10-5014820-G-A p.Cys242Tyr missense AKR1C1 1 82046 1.21883E-5 41023 0 3.34253E-5
10-5014844-G-A p.Arg250Gln missense AKR1C1 28 81420 3.43896E-4 40710 0 2.54696E-4
10-5014845-A-T p.Arg250Arg synonymous AKR1C1 2 81396 2.45712E-5 40698 0 3.2981E-5
10-5014850-C-T p.Pro252Leu missense AKR1C1 1 81536 1.22645E-5 40768 0 NA
10-5014861-G-T p.Ala256Ser missense AKR1C1 1 81570 1.22594E-5 40785 0 1.89616E-4
10-5014864-C-G p.Leu257Val missense AKR1C1 2 81626 2.4502E-5 40813 0 1.5911E-5
10-5014864-C-T p.Leu257Leu synonymous AKR1C1 1 81626 1.2251E-5 40813 0 3.97776E-6
10-5014867-C-T p.Arg258Cys missense AKR1C1 2 81594 2.45116E-5 40797 0 6.36821E-5
10-5014868-G-A p.Arg258His missense AKR1C1 2 81596 2.4511E-5 40798 0 4.12249E-5
10-5014871-A-G p.Tyr259Cys missense AKR1C1 2 81644 2.44966E-5 40822 0 8.24484E-6
10-5014878-A-G p.Leu261Leu synonymous AKR1C1 349 47346 0.00737127 23673 0 0.257288
10-5014883-G-A p.Arg263His missense AKR1C1 2 81490 2.45429E-5 40745 0 5.30223E-4
10-5014892-T-C p.Val266Ala missense AKR1C1 2 81256 2.46136E-5 40628 1 3.1841E-5
10-5014902-C-T p.Ala269Ala synonymous AKR1C1 1 80934 1.23557E-5 40467 0 1.27356E-4
10-5014909-T-A p.Tyr272Asn missense AKR1C1 1 80714 1.23894E-5 40357 0 8.25832E-6
10-5014913-A-G p.Asn273Ser missense AKR1C1 1 80632 1.2402E-5 40316 0 3.1837E-5
10-5014914-T-C p.Asn273Asn synonymous AKR1C1 2 80606 2.4812E-5 40303 0 6.61135E-5
10-5014919-AGC-A p.Arg276fs frameshift AKR1C1 1 80402 1.24375E-5 40201 0 2.09869E-4
10-5014922-G-A p.Arg276His missense AKR1C1 1 80198 1.24691E-5 40099 0 8.41439E-6
10-5014929-A-G p.Arg278Arg synonymous AKR1C1 1 79908 1.25144E-5 39954 0 NA
10-5014935-C-A p.Asn280Lys missense AKR1C1 535 77956 0.00686285 38978 0 0.0263724
10-5014936-G-A p.Val281Met missense AKR1C1 1 79382 1.25973E-5 39691 0 2.058E-5
10-5014939-C-T p.Gln282* stop_gained AKR1C1 1 79102 1.26419E-5 39551 0 NA
10-5014942-G-T c.846+1G>T splice_donor AKR1C1 2 78776 2.53884E-5 39388 0 6.01251E-5
10-5018035-T-TTTGA c.847-8_847-7insTTGA splice_region AKR1C1 1 32546 3.07257E-5 16273 0 NA
10-5018106-C-T p.Arg304* stop_gained AKR1C1 1 37266 2.68341E-5 18633 0 5.65654E-5
10-5018107-G-A p.Arg304Gln missense AKR1C1 2 37154 5.383E-5 18577 0 1.86902E-5
10-5018109-T-C p.Tyr305His missense AKR1C1 1 37302 2.68082E-5 18651 0 NA
10-5018115-A-G p.Thr307Ala missense AKR1C1 19 36848 5.15632E-4 18424 0 8.94454E-4
10-5018117-C-T p.Thr307Thr synonymous AKR1C1 1 36688 2.72569E-5 18344 0 2.03865E-5
10-5018126-G-A c.929+1G>A splice_donor AKR1C1 2 36446 5.48757E-5 18223 0 2.09389E-5
10-5018132-A-G c.929+7A>G splice_region AKR1C1 9494 20964 0.452872 10482 1224 0.667853
10-5019887-T-C c.930-5T>C splice_region AKR1C1 5 82332 6.07297E-5 41166 0 1.61714E-5
10-5019888-C-G c.930-4C>G splice_region AKR1C1 1 82304 1.21501E-5 41152 0 1.63722E-5
10-5019899-G-C p.Gly313Arg missense AKR1C1 1 82136 1.21749E-5 41068 0 1.67558E-5
10-5019906-CT-C p.Asn316fs frameshift AKR1C1 3 82046 3.65649E-5 41023 0 1.67777E-5
10-5019906-C-T p.Pro315Leu missense AKR1C1 2 82046 2.43766E-5 41023 0 4.11933E-6
10-5019923-G-T p.Asp321Tyr missense AKR1C1 1 82082 1.21829E-5 41041 0 NA
10-5019923-GA-G p.Asp321fs frameshift AKR1C1 2 82082 2.43659E-5 41041 0 8.18391E-6
10-5019931-T-G p.Tyr323* stop_gained AKR1C1 13 82146 1.58255E-4 41073 0 0.00125
10-5019932-T-G p.Ter324Gluext*? stop_lost AKR1C1 1 82128 1.21761E-5 41064 0 8.4185E-6
10-5020140-C-T c.*206C>T splice_region AKR1C1 1 61452 1.62729E-5 30726 0 NA