Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-134233936-C-T c.-212C>T 5_prime_UTR_premature_start_codon_gain AKR1B15 12 1538 0.00780234 769 0 0.007583
7-134249375-G-C p.Val2Leu missense AKR1B15 1 53512 1.86874E-5 26756 0 8.51644E-5
7-134249384-A-T p.Met5Leu missense AKR1B15 1 53944 1.85377E-5 26972 0 NA
7-134249417-C-T p.His16Tyr missense AKR1B15 1 55336 1.80714E-5 27668 0 0.00337838
7-134249439-C-T p.Pro23Leu missense AKR1B15 1 55664 1.79649E-5 27832 0 NA
7-134249440-C-T p.Pro23Pro synonymous AKR1B15 2 55668 3.59273E-5 27834 0 6.36821E-5
7-134249441-G-A p.Val24Ile missense AKR1B15 2 55672 3.59247E-5 27836 0 7.51948E-6
7-134249446-C-T p.Gly25Gly synonymous AKR1B15 1 55714 1.79488E-5 27857 0 NA
7-134249459-C-A p.Leu30Ile missense AKR1B15 1 55720 1.79469E-5 27860 0 3.18492E-5
7-134249465-A-G p.Ser32Gly missense AKR1B15 1 55712 1.79495E-5 27856 0 NA
7-134249468-T-C p.Ser33Pro missense AKR1B15 4 55722 7.17849E-5 27861 0 0.00149601
7-134249483-A-G p.Thr38Ala missense AKR1B15 150 55652 0.00269532 27826 1 0.00182102
7-134249497-GC-G p.Leu44fs frameshift AKR1B15 1 55462 1.80304E-5 27731 0 3.18532E-5
7-134249507-C-T p.Arg46Cys missense AKR1B15 3 55216 5.43321E-5 27608 0 2.46613E-5
7-134249508-G-A p.Arg46His missense AKR1B15 8 55136 1.45096E-4 27568 0 4.25351E-4
7-134249508-G-C p.Arg46Pro missense AKR1B15 3 55136 5.44109E-5 27568 0 1.64398E-5
7-134249529-G-T c.150+8G>T splice_region AKR1B15 1 54652 1.82976E-5 27326 0 NA
7-134250240-C-T p.Thr3Met missense AKR1B15 2 82958 2.41086E-5 41479 0 6.37146E-5
7-134250256-T-G p.Ser8Arg missense AKR1B15 34 83132 4.08988E-4 41566 0 0.00224426
7-134250275-A-G p.Ile15Val missense AKR1B15 1 83178 1.20224E-5 41589 0 1.79137E-4
7-134250299-G-T c.66+1G>T splice_donor AKR1B15 1 83164 1.20244E-5 41582 0 NA
7-134250302-A-T c.66+4A>T splice_region AKR1B15 1 83154 1.20259E-5 41577 0 3.18654E-5
7-134252908-A-G c.67-2A>G splice_acceptor AKR1B15 1 83240 1.20135E-5 41620 0 8.3325E-6
7-134252910-T-C p.Ser23Pro missense+splice_region AKR1B15 1 83236 1.2014E-5 41618 0 NA
7-134252914-T-C p.Leu24Pro missense AKR1B15 1 83264 1.201E-5 41632 0 1.66138E-5
7-134252914-T-G p.Leu24Arg missense AKR1B15 1 83264 1.201E-5 41632 0 3.99374E-5
7-134252918-C-T p.Leu25Leu synonymous AKR1B15 2 83274 2.40171E-5 41637 0 3.1902E-5
7-134252919-G-A p.Gly26Ser missense AKR1B15 189 83268 0.00226978 41634 1 0.0046252
7-134252920-G-A p.Gly26Asp missense AKR1B15 2 83272 2.40177E-5 41636 0 3.1902E-5
7-134252925-G-T p.Val28Leu missense AKR1B15 1 83278 1.2008E-5 41639 0 8.28432E-6
7-134252926-T-C p.Val28Ala missense AKR1B15 9 83282 1.08067E-4 41641 0 1.27738E-4
7-134252934-G-A p.Ala31Thr missense AKR1B15 1 83284 1.20071E-5 41642 0 NA
7-134252935-C-T p.Ala31Val missense AKR1B15 2 83294 2.40113E-5 41647 0 9.1046E-5
7-134252936-G-A p.Ala31Ala synonymous AKR1B15 29 83298 3.48148E-4 41649 0 6.21628E-4
7-134252943-G-C p.Val34Leu missense AKR1B15 1 83312 1.20031E-5 41656 0 1.65355E-5
7-134252944-T-C p.Val34Ala missense AKR1B15 2 83308 2.40073E-5 41654 0 8.26774E-6
7-134252955-G-T p.Ala38Ser missense AKR1B15 1 83302 1.20045E-5 41651 0 3.98111E-6
7-134252957-A-G p.Ala38Ala synonymous AKR1B15 29 83298 3.48148E-4 41649 0 0.00302115
7-134252959-A-C p.Glu39Ala missense AKR1B15 3 83302 3.60135E-5 41651 0 7.9609E-6
7-134252959-A-G p.Glu39Gly missense AKR1B15 1 83302 1.20045E-5 41651 0 8.25996E-6
7-134252960-A-G p.Glu39Glu synonymous AKR1B15 2 83304 2.40085E-5 41652 0 NA
7-134252962-A-G p.Tyr40Cys missense AKR1B15 1 83306 1.20039E-5 41653 0 8.25723E-6
7-134252973-G-T p.Asp44Tyr missense AKR1B15 1 83296 1.20054E-5 41648 0 8.25151E-6
7-134252977-G-A p.Cys45Tyr missense AKR1B15 1 83290 1.20062E-5 41645 0 8.24933E-6
7-134252990-T-G p.Tyr49* stop_gained AKR1B15 1 83294 1.20057E-5 41647 0 1.19409E-5
7-134252991-G-T p.Glu50* stop_gained AKR1B15 1 83302 1.20045E-5 41651 0 NA
7-134253001-A-T p.His53Leu missense AKR1B15 3 83302 3.60135E-5 41651 0 NA
7-134253014-A-G p.Glu57Glu synonymous AKR1B15 1159 83314 0.0139112 41657 36 0.027027
7-134253024-G-A p.Glu61Lys missense AKR1B15 1 83344 1.19985E-5 41672 0 7.95722E-6
7-134253033-C-A p.Gln64Lys missense AKR1B15 1 83350 1.19976E-5 41675 0 3.97842E-6
7-134253038-G-A p.Glu65Glu synonymous AKR1B15 3 83352 3.59919E-5 41676 0 1.64764E-5
7-134253040-A-G p.Lys66Arg missense AKR1B15 4 83348 4.79916E-5 41674 1 NA
7-134253040-A-C p.Lys66Thr missense AKR1B15 1 83348 1.19979E-5 41674 0 8.23832E-6
7-134253042-G-A p.Ala67Thr missense AKR1B15 7 83344 8.39893E-5 41672 0 2.88341E-4
7-134253045-G-A p.Val68Met missense AKR1B15 1 83360 1.19962E-5 41680 0 NA
7-134253049-T-A p.Met69Lys missense AKR1B15 4 83350 4.79904E-5 41675 0 1.64785E-5
7-134253051-C-T p.Arg70Trp missense AKR1B15 5 83346 5.99909E-5 41673 0 0.00100705
7-134253052-G-A p.Arg70Gln missense AKR1B15 52 83350 6.23875E-4 41675 0 3.62085E-4
7-134253053-G-A p.Arg70Arg synonymous AKR1B15 20 83352 2.39946E-4 41676 0 0.00503525
7-134253054-G-A p.Glu71Lys missense AKR1B15 2 83354 2.3994E-5 41677 0 3.18654E-5
7-134253059-C-T p.Asp72Asp synonymous AKR1B15 2 83352 2.39946E-5 41676 0 NA
7-134253066-A-G p.Ile75Val missense AKR1B15 39 83354 4.67884E-4 41677 0 0.00137039
7-134253068-C-T p.Ile75Ile synonymous AKR1B15 2 83346 2.39964E-5 41673 0 3.18695E-5
7-134253069-G-A p.Val76Ile missense AKR1B15 10 83348 1.19979E-4 41674 0 7.56375E-5
7-134253083-C-T c.234+6C>T splice_region AKR1B15 7 83310 8.40235E-5 41655 0 1.27503E-4
7-134253084-A-T c.234+7A>T splice_region AKR1B15 8 83310 9.60269E-5 41655 0 4.9572E-5
7-134253084-A-G c.234+7A>G splice_region AKR1B15 1 83310 1.20034E-5 41655 0 2.78884E-5
7-134254164-G-A c.235-1G>A splice_acceptor AKR1B15 3 83264 3.603E-5 41632 0 2.4728E-5
7-134254165-G-T p.Val79Leu missense+splice_region AKR1B15 2 83272 2.40177E-5 41636 0 3.18552E-5
7-134254165-G-A p.Val79Met missense+splice_region AKR1B15 1 83272 1.20088E-5 41636 0 8.24253E-6
7-134254167-G-A p.Val79Val splice_region+synonymous AKR1B15 1 83282 1.20074E-5 41641 0 NA
7-134254169-G-A p.Trp80* stop_gained AKR1B15 4 83278 4.80319E-5 41639 0 NA
7-134254179-C-G p.Phe83Leu missense AKR1B15 84 83288 0.00100855 41644 2 0.00440443
7-134254182-T-G p.Phe84Leu missense AKR1B15 1 83282 1.20074E-5 41641 0 NA
7-134254189-C-A p.Pro87Thr missense AKR1B15 1 83290 1.20062E-5 41645 0 1.64813E-5
7-134254193-T-C p.Leu88Pro missense AKR1B15 1 83284 1.20071E-5 41642 0 1.64815E-5
7-134254196-T-G p.Val89Gly missense AKR1B15 1 83278 1.2008E-5 41639 0 NA
7-134254197-G-A p.Val89Val synonymous AKR1B15 1 83284 1.20071E-5 41642 0 1.19372E-5
7-134254200-GA-G p.Ala92fs frameshift AKR1B15 1 83278 1.2008E-5 41639 0 8.24076E-6
7-134254217-C-T p.Thr96Ile missense AKR1B15 1 83264 1.201E-5 41632 0 NA
7-134254217-C-A p.Thr96Asn missense AKR1B15 4 83264 4.804E-5 41632 0 3.18532E-5
7-134254225-G-A p.Asp99Asn missense AKR1B15 2 83256 2.40223E-5 41628 0 NA
7-134254233-G-A p.Lys101Lys synonymous AKR1B15 2 83252 2.40234E-5 41626 0 8.24035E-6
7-134254248-C-T p.Asp106Asp synonymous AKR1B15 29 83246 3.48365E-4 41623 0 0.00159866
7-134254249-G-A p.Val107Ile missense AKR1B15 3 83250 3.6036E-5 41625 0 7.95868E-5
7-134254249-G-T p.Val107Phe missense AKR1B15 1 83250 1.2012E-5 41625 0 NA
7-134254257-T-G p.Leu109Leu synonymous AKR1B15 1 83216 1.20169E-5 41608 0 NA
7-134254261-C-T p.His111Tyr missense AKR1B15 1 83216 1.20169E-5 41608 0 2.38802E-5
7-134254265-G-A p.Trp112* stop_gained AKR1B15 1 83214 1.20172E-5 41607 0 8.24063E-6
7-134254286-G-A c.351+5G>A splice_region AKR1B15 1 83192 1.20204E-5 41596 0 1.19418E-5
7-134254289-T-A c.351+8T>A splice_region AKR1B15 1 83178 1.20224E-5 41589 0 8.24212E-6
7-134256362-G-A p.Asp120Asn missense AKR1B15 1 82602 1.21062E-5 41301 0 NA
7-134256364-T-C p.Asp120Asp synonymous AKR1B15 1 82612 1.21048E-5 41306 0 8.27527E-6
7-134256367-C-T p.Asp121Asp synonymous AKR1B15 2 82642 2.42008E-5 41321 0 4.00933E-6
7-134256381-A-C p.Asp126Ala missense AKR1B15 1 82726 1.20881E-5 41363 0 NA
7-134256383-G-T p.Asp127Tyr missense AKR1B15 2 82750 2.41692E-5 41375 0 NA
7-134256385-T-C p.Asp127Asp synonymous AKR1B15 3 82746 3.62555E-5 41373 0 3.18613E-5
7-134256389-G-A p.Gly129Ser missense AKR1B15 1 82790 1.20788E-5 41395 0 NA
7-134256390-G-A p.Gly129Asp missense AKR1B15 1 82786 1.20793E-5 41393 0 NA
7-134256411-G-C p.Gly136Ala missense AKR1B15 2 82820 2.41488E-5 41410 0 NA
7-134256414-C-T p.Thr137Met missense AKR1B15 11 82778 1.32886E-4 41389 0 2.23001E-4
7-134256415-G-A p.Thr137Thr synonymous AKR1B15 138 82760 0.00166747 41380 2 0.00344059
7-134256415-G-C p.Thr137Thr synonymous AKR1B15 1 82766 1.20823E-5 41383 0 8.25518E-6
7-134256416-T-C p.Phe138Leu missense AKR1B15 2 82792 2.41569E-5 41396 0 8.25505E-6
7-134256423-A-T p.Asp140Val missense AKR1B15 2 82770 2.41633E-5 41385 0 8.2545E-6
7-134256430-G-A p.Trp142* stop_gained AKR1B15 1 82732 1.20872E-5 41366 0 NA
7-134256434-G-T c.429+1G>T splice_donor AKR1B15 1 82678 1.20951E-5 41339 0 6.25E-4
7-134256437-G-A c.429+4G>A splice_region AKR1B15 190 82660 0.00229857 41330 1 0.00445917
7-134256438-G-T c.429+5G>T splice_region AKR1B15 2 82656 2.41967E-5 41328 0 4.0001E-6
7-134256439-T-C c.429+6T>C splice_region AKR1B15 1 82662 1.20975E-5 41331 0 3.99981E-6
7-134256440-T-TC c.429+7_429+8insC splice_region AKR1B15 2 82662 2.41949E-5 41331 0 8.25955E-6
7-134260175-A-G p.Met145Val missense AKR1B15 17 81560 2.08436E-4 40780 0 3.50341E-4
7-134260181-G-T p.Glu147* stop_gained AKR1B15 2 81586 2.4514E-5 40793 0 1.65333E-5
7-134260182-A-C p.Glu147Ala missense AKR1B15 2 81578 2.45164E-5 40789 0 1.65314E-5
7-134260187-G-T p.Val149Leu missense AKR1B15 1 81606 1.2254E-5 40803 0 NA
7-134260189-G-A p.Val149Val synonymous AKR1B15 9 81604 1.10289E-4 40802 0 5.73394E-4
7-134260191-A-G p.Asp150Gly missense AKR1B15 1 81614 1.22528E-5 40807 0 NA
7-134260192-C-T p.Asp150Asp synonymous AKR1B15 10 81610 1.22534E-4 40805 0 2.06472E-4
7-134260192-C-G p.Asp150Glu missense AKR1B15 1 81610 1.22534E-5 40805 0 2.47766E-5
7-134260193-G-A p.Glu151Lys missense AKR1B15 8 81606 9.8032E-5 40803 0 2.22973E-4
7-134260196-G-GGGCT p.Val154fs frameshift AKR1B15 2 81622 2.45032E-5 40811 0 NA
7-134260208-G-T p.Ala156Ser missense AKR1B15 3 81650 3.67422E-5 40825 0 1.59486E-5
7-134260222-A-C p.Ser160Ser synonymous AKR1B15 8 81654 9.79744E-5 40827 0 6.25E-4
7-134260222-A-T p.Ser160Ser synonymous AKR1B15 1 81664 1.22453E-5 40832 0 NA
7-134260231-C-T p.Asn163Asn synonymous AKR1B15 1 81674 1.22438E-5 40837 0 NA
7-134260234-C-A p.His164Gln missense AKR1B15 49 81662 6.00034E-4 40831 0 0.00133766
7-134260243-C-T p.Ile167Ile synonymous AKR1B15 648 81612 0.00794001 40806 27 0.0162767
7-134260244-G-C p.Glu168Gln missense AKR1B15 3 81632 3.67503E-5 40816 0 4.12664E-5
7-134260244-G-A p.Glu168Lys missense AKR1B15 1 81632 1.22501E-5 40816 0 1.91385E-4
7-134260248-G-A p.Arg169Lys missense AKR1B15 3 81598 3.67656E-5 40799 0 6.25E-4
7-134260268-C-G p.Leu176Val missense AKR1B15 1 81466 1.22751E-5 40733 0 8.25968E-6
7-134260283-G-C p.Val181Leu missense AKR1B15 1 81364 1.22904E-5 40682 0 NA
7-134260294-G-A p.Gln184Gln splice_region+synonymous AKR1B15 2 81284 2.46051E-5 40642 0 3.18532E-5
7-134260570-C-T c.553-3C>T splice_region AKR1B15 1 81458 1.22763E-5 40729 0 NA
7-134260587-A-G p.Pro189Pro synonymous AKR1B15 1 81560 1.22609E-5 40780 0 8.26037E-6
7-134260589-A-G p.Tyr190Cys missense AKR1B15 4 81564 4.90412E-5 40782 0 3.18939E-5
7-134260590-C-A p.Tyr190* stop_gained AKR1B15 3 81574 3.67764E-5 40787 0 3.30366E-5
7-134260593-CA-C p.Thr192fs frameshift AKR1B15 1 81586 1.2257E-5 40793 0 3.98416E-6
7-134260595-C-T p.Thr192Met missense AKR1B15 567 81088 0.0069924 40544 2 0.0101653
7-134260596-G-A p.Thr192Thr synonymous AKR1B15 4 81558 4.90449E-5 40779 0 0.0025
7-134260596-G-C p.Thr192Thr synonymous AKR1B15 1 81570 1.22594E-5 40785 0 3.98572E-6
7-134260597-CAGGAG-C p.Glu194fs frameshift AKR1B15 1 81576 1.22585E-5 40788 0 3.98441E-6
7-134260600-G-T p.Glu194* stop_gained AKR1B15 1 81556 1.22615E-5 40778 0 3.18573E-5
7-134260606-C-T p.Leu196Leu synonymous AKR1B15 2 81502 2.45393E-5 40751 0 3.9846E-6
7-134260628-A-AAGTGTCCT p.Gly204fs frameshift AKR1B15 1 81266 1.23053E-5 40633 0 NA
7-134260639-G-A p.Val207Ile missense AKR1B15 2 81068 2.46706E-5 40534 0 6.25E-4
7-134260643-C-T p.Thr208Met missense AKR1B15 27 80962 3.3349E-4 40481 0 0.00299043
7-134260644-G-A p.Thr208Thr synonymous AKR1B15 1 81002 1.23454E-5 40501 0 6.25E-4
7-134260645-G-A p.Ala209Thr missense AKR1B15 1 80958 1.23521E-5 40479 0 NA
7-134260656-C-T p.Pro212Pro synonymous AKR1B15 1 80728 1.23873E-5 40364 0 8.90551E-6
7-134260657-CT-C p.Leu213fs frameshift AKR1B15 2 80722 2.47764E-5 40361 0 8.00794E-6
7-134260667-C-T p.Pro216Leu missense AKR1B15 6 80122 7.48858E-5 40061 0 0.00180941
7-134260668-G-A p.Pro216Pro synonymous AKR1B15 2 79804 2.50614E-5 39902 0 6.53473E-5
7-134260676-C-T p.Pro219Leu missense AKR1B15 1 79120 1.2639E-5 39560 0 3.18573E-5
7-134260686-C-T c.659+7C>T splice_region AKR1B15 19 79110 2.40172E-4 39555 1 0.00121285
7-134261096-C-T c.660-5C>T splice_region AKR1B15 2 83024 2.40894E-5 41512 0 8.25273E-6
7-134261097-C-G c.660-4C>G splice_region AKR1B15 34925 81542 0.428307 40771 7644 0.450227
7-134261097-C-A c.660-4C>A splice_region AKR1B15 3 83042 3.61263E-5 41521 0 1.27624E-4
7-134261101-G-A p.Trp220* stop_gained AKR1B15 5 83122 6.01525E-5 41561 0 3.18459E-5
7-134261109-C-T p.Pro223Leu missense AKR1B15 1 83192 1.20204E-5 41596 0 NA
7-134261113-G-A p.Glu224Glu synonymous AKR1B15 1 83180 1.20221E-5 41590 0 1.99011E-5
7-134261122-C-G p.Ser227Ser synonymous AKR1B15 1 83196 1.20198E-5 41598 0 NA
7-134261146-G-A p.Lys235Lys synonymous AKR1B15 181 83214 0.00217511 41607 1 0.00471308
7-134261161-G-T p.Lys240Asn missense AKR1B15 1 83218 1.20166E-5 41609 0 7.96185E-6
7-134261169-A-C p.Lys243Thr missense AKR1B15 7 83198 8.41366E-5 41599 0 2.23458E-4
7-134261172-C-A p.Thr244Asn missense AKR1B15 4 83190 4.80827E-5 41595 0 6.36821E-5
7-134261174-A-G p.Thr245Ala missense AKR1B15 435 83158 0.00523101 41579 5 0.00347891
7-134261177-G-A p.Ala246Thr missense AKR1B15 1 83170 1.20236E-5 41585 0 NA
7-134261182-G-A p.Gln247Gln splice_region+synonymous AKR1B15 1 83134 1.20288E-5 41567 0 NA
7-134261182-G-C p.Gln247His missense+splice_region AKR1B15 1 83134 1.20288E-5 41567 0 1.59449E-5
7-134261185-A-G c.741+3A>G splice_region AKR1B15 820 83034 0.00987547 41517 22 0.0197708
7-134261707-C-A c.742-8C>A splice_region AKR1B15 1 82766 1.20823E-5 41383 0 3.1841E-5
7-134261708-T-C c.742-7T>C splice_region AKR1B15 8 82774 9.66487E-5 41387 0 1.83181E-4
7-134261711-A-C c.742-4A>C splice_region AKR1B15 1 82796 1.20779E-5 41398 0 NA
7-134261712-C-T c.742-3C>T splice_region AKR1B15 3 82806 3.62293E-5 41403 0 9.55665E-5
7-134261724-C-T p.Arg251Cys missense AKR1B15 6 82906 7.23711E-5 41453 0 1.73042E-4
7-134261725-G-A p.Arg251His missense AKR1B15 6 82896 7.23799E-5 41448 0 0.0020141
7-134261731-A-G p.His253Arg missense AKR1B15 2 82922 2.41191E-5 41461 0 3.18492E-5
7-134261745-G-A p.Val258Met missense AKR1B15 2 82932 2.41161E-5 41466 0 9.88598E-5
7-134261749-C-T p.Thr259Ile missense AKR1B15 2 82944 2.41127E-5 41472 0 1.64769E-5
7-134261750-A-T p.Thr259Thr synonymous AKR1B15 2 82942 2.41132E-5 41471 0 1.64766E-5
7-134261753-G-C p.Val260Val synonymous AKR1B15 2 82958 2.41086E-5 41479 0 1.64766E-5
7-134261757-C-A p.Pro262Thr missense AKR1B15 1 82964 1.20534E-5 41482 0 NA
7-134261766-A-G p.Met265Val missense AKR1B15 3 82896 3.61899E-5 41448 0 5.7672E-5
7-134261770-C-T p.Thr266Ile missense AKR1B15 1 82912 1.2061E-5 41456 0 3.18471E-5
7-134261773-C-T p.Pro267Leu missense AKR1B15 3 82904 3.61864E-5 41452 0 9.55475E-5
7-134261778-C-T p.His269Tyr missense AKR1B15 2 82878 2.41319E-5 41439 0 NA
7-134261779-A-G p.His269Arg missense AKR1B15 2 82856 2.41383E-5 41428 0 9.0626E-5
7-134261781-A-C p.Ile270Leu missense AKR1B15 10 82874 1.20665E-4 41437 0 2.22916E-4
7-134261784-G-T p.Val271Phe missense AKR1B15 1 82824 1.20738E-5 41412 0 NA
7-134262453-T-C c.826-3T>C splice_region AKR1B15 6 82936 7.23449E-5 41468 0 4.37384E-5
7-134262455-G-A c.826-1G>A splice_acceptor AKR1B15 1 82950 1.20555E-5 41475 0 8.70504E-6
7-134262465-T-C p.Phe279Leu missense AKR1B15 1 83030 1.20438E-5 41515 0 NA
7-134262470-A-G p.Lys280Lys synonymous AKR1B15 1 83062 1.20392E-5 41531 0 5.09457E-4
7-134262477-G-A p.Asp283Asn missense AKR1B15 2 83092 2.40697E-5 41546 0 8.44637E-6
7-134262486-A-G p.Met286Val missense AKR1B15 2 83132 2.40581E-5 41566 0 2.10098E-4
7-134262488-G-A p.Met286Ile missense AKR1B15 1 83154 1.20259E-5 41577 0 NA
7-134262492-A-G p.Thr288Ala missense AKR1B15 3 83150 3.60794E-5 41575 0 NA
7-134262493-C-T p.Thr288Ile missense AKR1B15 1 83154 1.20259E-5 41577 0 NA
7-134262498-C-A p.Leu290Ile missense AKR1B15 1 83170 1.20236E-5 41585 0 NA
7-134262499-T-C p.Leu290Pro missense AKR1B15 2 83178 2.40448E-5 41589 0 3.18669E-5
7-134262521-G-A p.Arg297Arg synonymous AKR1B15 1 83210 1.20178E-5 41605 0 NA
7-134262526-T-G p.Phe299Cys missense AKR1B15 1 83188 1.2021E-5 41594 0 NA
7-134262528-G-A p.Asp300Asn missense AKR1B15 1 83190 1.20207E-5 41595 0 NA
7-134262530-C-CGTG p.Asp300_Phe301insVal conservative_inframe_insertion AKR1B15 2 83188 2.40419E-5 41594 0 NA
7-134262532-TCAA-T p.Phe301_Lys302delinsLeu disruptive_inframe_deletion AKR1B15 2 83186 2.40425E-5 41593 0 NA
7-134262537-G-C p.Glu303Gln missense+splice_region AKR1B15 1 83188 1.2021E-5 41594 0 3.99135E-6
7-134262546-G-A c.908+8G>A splice_region AKR1B15 6 83170 7.21414E-5 41585 0 5.34388E-5
7-134264284-T-A p.Phe312Ile missense AKR1B15 1 80936 1.23554E-5 40468 0 2.90485E-5
7-134264286-C-T p.Phe312Phe synonymous AKR1B15 27046 78734 0.343511 39367 5080 0.370787
7-134264287-G-A p.Asp313Asn missense AKR1B15 3 80916 3.70755E-5 40458 0 4.17537E-6
7-134264626-C-T c.*325C>T splice_region AKR1B15 1 5360 1.86567E-4 2680 0 NA