Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-19630662-T-C c.*106A>G splice_region AKR7A2 1 83364 1.19956E-5 41682 0 NA
1-19630720-T-C p.Ter360Trpext*? stop_lost AKR7A2 2 83432 2.39716E-5 41716 0 NA
1-19630723-C-T p.Arg359His missense AKR7A2 1 83434 1.19855E-5 41717 0 9.5435E-5
1-19630724-G-A p.Arg359Cys missense AKR7A2 2 83432 2.39716E-5 41716 0 5.96445E-5
1-19630731-G-C p.Asn356Lys missense AKR7A2 1 83436 1.19852E-5 41718 0 3.18471E-5
1-19630736-G-C p.Pro355Ala missense AKR7A2 5 83436 5.99262E-5 41718 0 6.36213E-5
1-19630738-C-T p.Cys354Tyr missense AKR7A2 1 83436 1.19852E-5 41718 0 7.95267E-6
1-19630739-A-G p.Cys354Arg missense AKR7A2 1 83434 1.19855E-5 41717 0 NA
1-19630742-C-T p.Glu353Lys missense AKR7A2 6 83432 7.19149E-5 41716 0 NA
1-19630743-G-A p.His352His synonymous AKR7A2 3 83432 3.59574E-5 41716 0 4.11828E-5
1-19630752-C-A p.Leu349Phe missense AKR7A2 1 83432 1.19858E-5 41716 0 1.19291E-5
1-19630766-G-A p.Gln345* stop_gained AKR7A2 12 83426 1.4384E-4 41713 0 3.57881E-5
1-19630781-C-T p.Val340Met missense AKR7A2 1 83410 1.1989E-5 41705 0 3.18878E-5
1-19630782-G-A p.Arg201Cys missense AKR7A2 28 83400 3.35731E-4 41700 0 5.04032E-4
1-19630785-A-C p.Cys200Gly missense AKR7A2 178 83402 0.00213424 41701 0 0.00414567
1-19630788-C-T p.Gly199Ser missense AKR7A2 3 83414 3.59652E-5 41707 0 0.00125
1-19630789-G-A p.Pro337Leu missense AKR7A2 2 83410 2.39779E-5 41705 0 3.18878E-5
1-19630812-T-C p.Asn191Asp missense AKR7A2 2 83396 2.3982E-5 41698 0 1.07095E-4
1-19630846-G-C p.Ser318Cys missense AKR7A2 1 83330 1.20005E-5 41665 0 3.97693E-5
1-19630863-C-T p.Gly174Ser missense AKR7A2 4 83234 4.80573E-5 41617 0 1.27389E-4
1-19630864-G-A p.Ala312Val missense AKR7A2 462 83200 0.00555288 41600 4 0.0122348
1-19630865-C-T p.Ala312Thr missense AKR7A2 2 83206 2.40367E-5 41603 0 6.36983E-5
1-19630866-G-A p.Arg173Cys missense AKR7A2 6 83206 7.21102E-5 41603 0 1.27429E-4
1-19630867-TCCC-T p.Gly310del disruptive_inframe_deletion AKR7A2 25 83194 3.00502E-4 41597 0 2.23086E-4
1-19630869-C-T p.Gly172Arg missense AKR7A2 1 83182 1.20218E-5 41591 0 NA
1-19630871-C-T p.Gly310Arg missense AKR7A2 1 83162 1.20247E-5 41581 0 7.9628E-6
1-19630872-G-A p.Arg171Trp missense AKR7A2 3 83126 3.60898E-5 41563 0 1.7517E-4
1-19630874-G-A p.His309Tyr missense AKR7A2 9 83100 1.08303E-4 41550 0 1.59337E-4
1-19632506-G-C c.918+6C>G splice_region AKR7A2 1 83178 1.20224E-5 41589 0 1.59196E-5
1-19632507-G-A c.918+5C>T splice_region AKR7A2 4 83186 4.8085E-5 41593 0 3.97994E-6
1-19632527-G-A p.Pro163Ser missense AKR7A2 9 83224 1.08142E-4 41612 0 2.22859E-4
1-19632538-A-G p.Trp298Arg missense AKR7A2 1 83238 1.20137E-5 41619 0 5.0813E-4
1-19632540-C-T p.Arg297Gln missense AKR7A2 6 83244 7.20773E-5 41622 0 2.14313E-4
1-19632540-C-A p.Arg297Leu missense AKR7A2 3 83244 3.60386E-5 41622 0 7.95754E-6
1-19632541-G-A p.Arg297Trp missense AKR7A2 1 83262 1.20103E-5 41631 0 3.1837E-5
1-19632551-C-T p.Gly155Ser missense AKR7A2 3 83272 3.60265E-5 41636 0 4.12086E-5
1-19632551-C-G p.Gly155Arg missense AKR7A2 1 83272 1.20088E-5 41636 0 3.18451E-5
1-19632552-G-A p.Ser293Leu missense AKR7A2 2 83276 2.40165E-5 41638 0 1.15388E-4
1-19632561-C-T p.Ser290Asn missense AKR7A2 15 83292 1.80089E-4 41646 0 2.86588E-4
1-19632568-C-T p.Ala288Thr missense AKR7A2 1 83292 1.2006E-5 41646 0 3.18532E-5
1-19632572-G-A p.Gln148* stop_gained AKR7A2 1 83292 1.2006E-5 41646 0 NA
1-19632573-G-A p.Ala286Val missense AKR7A2 3 83290 3.60187E-5 41645 0 3.97744E-6
1-19632574-C-T p.Ala286Thr missense AKR7A2 5 83290 6.00312E-5 41645 0 3.29609E-5
1-19632575-G-A p.Arg147Cys missense AKR7A2 7 83304 8.40296E-5 41652 0 9.55536E-5
1-19632578-A-C p.Tyr284* stop_gained AKR7A2 1 83298 1.20051E-5 41649 0 8.23995E-6
1-19632581-T-A p.Ile145Leu missense AKR7A2 4 83296 4.80215E-5 41648 0 1.19314E-5
1-19632581-T-C p.Ile145Val missense AKR7A2 3 83296 3.60161E-5 41648 0 3.18532E-5
1-19632583-C-T p.Ala283Thr missense AKR7A2 8 83290 9.60499E-5 41645 0 6.37064E-5
1-19632588-T-C p.Gln281Arg missense AKR7A2 8 83292 9.60476E-5 41646 0 1.27397E-4
1-19632599-C-A p.Glu139* stop_gained AKR7A2 1 83276 1.20083E-5 41638 0 NA
1-19632602-CACCAACGCAA-C p.Ile273fs frameshift AKR7A2 1 83286 1.20068E-5 41643 0 NA
1-19632602-C-T p.Gly138Arg missense AKR7A2 1 83288 1.20065E-5 41644 0 NA
1-19632603-A-C p.Val276Gly missense AKR7A2 1 83280 1.20077E-5 41640 0 3.97709E-6
1-19632608-C-T p.Val136Ile missense AKR7A2 1 83268 1.20094E-5 41634 0 8.23954E-6
1-19632609-G-A p.Ala274Val missense AKR7A2 2 83268 2.40188E-5 41634 0 0.00151515
1-19632612-A-G p.Ile273Thr missense AKR7A2 5 83244 6.00644E-5 41622 0 5.96564E-5
1-19632614-GGCCTC-G p.Glu271fs frameshift AKR7A2 1 83248 1.20123E-5 41624 0 NA
1-19632619-C-T p.Glu271Lys missense AKR7A2 5 83232 6.0073E-5 41616 0 7.95444E-6
1-19632620-G-A p.Arg132* stop_gained AKR7A2 2 83216 2.40338E-5 41608 0 3.18552E-5
1-19632646-GC-AA c.789-6_789-5delGCinsTT splice_region AKR7A2 1 83086 1.20357E-5 41543 0 NA
1-19632646-GC-G c.789-6delG splice_region AKR7A2 1 83086 1.20357E-5 41543 0 NA
1-19633489-G-A c.788+7C>T splice_region AKR7A2 2 83098 2.4068E-5 41549 0 6.36497E-5
1-19633496-C-G p.Arg263Pro missense+splice_region AKR7A2 1 83248 1.20123E-5 41624 0 4.1195E-5
1-19633497-G-A p.Arg263Cys missense+splice_region AKR7A2 2 83230 2.40298E-5 41615 0 5.03525E-4
1-19633520-C-T p.Ser255Asn missense AKR7A2 1188 83316 0.014259 41658 54 0.0305849
1-19633531-G-A p.Phe251Phe synonymous AKR7A2 38 83356 4.55876E-4 41678 0 0.00159307
1-19633535-C-T p.Arg250His missense AKR7A2 1 83348 1.19979E-5 41674 0 8.23669E-6
1-19633536-G-A p.Arg250Cys missense AKR7A2 3 83346 3.59945E-5 41673 0 2.78339E-5
1-19633537-G-A p.Gly249Gly synonymous AKR7A2 1 83354 1.1997E-5 41677 0 2.47101E-5
1-19633537-G-C p.Gly249Gly synonymous AKR7A2 1 83354 1.1997E-5 41677 0 3.97624E-6
1-19633543-A-G p.Pro247Pro synonymous AKR7A2 102 83342 0.00122387 41671 1 0.00318634
1-19633546-C-T p.Gln246Gln synonymous AKR7A2 1 83338 1.19993E-5 41669 0 NA
1-19633554-C-T p.Gly244Arg missense AKR7A2 4 83328 4.80031E-5 41664 0 4.11828E-5
1-19633555-G-A p.Asp243Asp synonymous AKR7A2 1 83328 1.20008E-5 41664 0 6.25E-4
1-19633562-T-C p.Asp241Gly missense AKR7A2 1 83334 1.19999E-5 41667 0 NA
1-19633581-C-A p.Gly235Cys missense AKR7A2 2 83312 2.40061E-5 41656 0 3.1839E-5
1-19633582-A-G p.Thr234Thr synonymous AKR7A2 2 83312 2.40061E-5 41656 0 3.29484E-5
1-19633585-C-T p.Ter56Ter stop_retained AKR7A2 2 83312 2.40061E-5 41656 0 3.1841E-5
1-19633591-G-A p.Ala54Val missense AKR7A2 2 83308 2.40073E-5 41654 0 1.64764E-5
1-19633591-G-GC p.Leu232fs frameshift AKR7A2 1 83308 1.20036E-5 41654 0 NA
1-19633597-T-A c.689-2A>T splice_acceptor AKR7A2 1 83272 1.20088E-5 41636 0 NA
1-19633599-C-T c.689-4G>A splice_region AKR7A2 4 83250 4.8048E-5 41625 0 1.59256E-4
1-19633600-G-T c.689-5C>A splice_region AKR7A2 1 83240 1.20135E-5 41620 0 3.18471E-5
1-19633600-G-A c.689-5C>T splice_region AKR7A2 5 83240 6.00673E-5 41620 0 1.56525E-4
1-19633803-C-T c.688+5G>A splice_region AKR7A2 1 82380 1.21389E-5 41190 0 3.97772E-6
1-19633804-G-A c.688+4C>T splice_region AKR7A2 4 82402 4.85425E-5 41201 0 9.55657E-5
1-19633808-C-T p.Gly230Arg missense+splice_region AKR7A2 1 82494 1.21221E-5 41247 0 NA
1-19633811-C-A p.Ala229Ser missense AKR7A2 32 82552 3.87634E-4 41276 0 9.87261E-4
1-19633815-A-T p.Pro227Pro synonymous AKR7A2 7 82650 8.46945E-5 41325 0 2.22916E-4
1-19633824-G-A p.Ala224Ala synonymous AKR7A2 27 82818 3.26016E-4 41409 0 7.74338E-4
1-19633828-T-C p.Tyr223Cys missense AKR7A2 2 82914 2.41214E-5 41457 0 1.98869E-5
1-19633840-C-G p.Gly219Ala missense AKR7A2 1 83080 1.20366E-5 41540 0 NA
1-19633850-T-G p.Arg216Arg synonymous AKR7A2 1 83248 1.20123E-5 41624 0 4.11929E-5
1-19633857-G-A p.Pro213Pro synonymous AKR7A2 1 83296 1.20054E-5 41648 0 3.9769E-6
1-19633859-G-A p.Pro213Ser missense AKR7A2 1 83294 1.20057E-5 41647 0 8.23873E-6
1-19633882-C-T p.Arg205Gln missense AKR7A2 9 83304 1.08038E-4 41652 0 1.91144E-4
1-19633883-G-A p.Arg205Trp missense AKR7A2 7 83318 8.40155E-5 41659 0 0.001875
1-19633887-G-A p.Thr203Thr synonymous AKR7A2 2 83306 2.40079E-5 41653 0 NA
1-19633892-C-T p.Ala202Thr missense AKR7A2 1 83300 1.20048E-5 41650 0 NA
1-19633897-T-C p.Tyr200Cys missense AKR7A2 2 83304 2.40085E-5 41652 0 3.97738E-6
1-19633904-C-T p.Gly198Ser missense+splice_region AKR7A2 2 83310 2.40067E-5 41655 0 6.25E-4
1-19633907-G-GGTACACAGTGGGCAGGATC c.592-4_592-3insGATCCTGCCCACTGTGTAC splice_region AKR7A2 1 83302 1.20045E-5 41651 0 NA
1-19633909-A-G c.592-5T>C splice_region AKR7A2 1 83280 1.20077E-5 41640 0 1.91168E-4
1-19634652-C-A p.Gln197His missense+splice_region AKR7A2 2 82004 2.43891E-5 41002 0 NA
1-19634655-G-A p.Tyr196Tyr synonymous AKR7A2 2 82038 2.43789E-5 41019 0 3.97836E-6
1-19634661-A-G p.Thr194Thr synonymous AKR7A2 1 82076 1.21838E-5 41038 0 NA
1-19634665-G-T p.Pro193His missense AKR7A2 1 82126 1.21764E-5 41063 0 NA
1-19634679-A-G p.Asn188Asn synonymous AKR7A2 2 82280 2.43072E-5 41140 0 0.00255624
1-19634683-C-T p.Ser187Asn missense AKR7A2 2 82318 2.4296E-5 41159 0 NA
1-19634689-C-T p.Cys185Tyr missense AKR7A2 1 82424 1.21324E-5 41212 0 8.24049E-6
1-19634693-G-A p.Leu184Phe missense AKR7A2 6 82490 7.27361E-5 41245 0 6.59239E-5
1-19634694-G-C p.Thr183Thr synonymous AKR7A2 1 82490 1.21227E-5 41245 0 8.24022E-6
1-19634695-G-T p.Thr183Asn missense AKR7A2 1 82518 1.21186E-5 41259 0 3.18695E-5
1-19634696-T-C p.Thr183Ala missense AKR7A2 1 82520 1.21183E-5 41260 0 1.19302E-5
1-19634704-T-C p.Glu180Gly missense AKR7A2 2 82630 2.42043E-5 41315 1 NA
1-19634705-C-T p.Glu180Lys missense AKR7A2 448 82632 0.00542163 41316 12 0.011547
1-19634706-G-A p.Ala179Ala synonymous AKR7A2 1 82676 1.20954E-5 41338 0 1.6481E-5
1-19634715-C-A p.Trp176Cys missense AKR7A2 3 82784 3.62389E-5 41392 0 NA
1-19634719-C-G p.Ser175Thr missense AKR7A2 1 82830 1.20729E-5 41415 0 2.47247E-5
1-19634719-C-A p.Ser175Ile missense AKR7A2 1 82832 1.20726E-5 41416 0 3.19305E-5
1-19634719-CTA-GCG p.AlaSer174AlaAla missense AKR7A2 1 82832 1.20726E-5 41416 0 NA
1-19634720-T-C p.Ser175Gly missense AKR7A2 1 82852 1.20697E-5 41426 0 2.47247E-5
1-19634721-A-G p.Ala174Ala synonymous AKR7A2 2 82882 2.41307E-5 41441 0 4.12099E-5
1-19634724-A-C p.Tyr173* stop_gained AKR7A2 1 82918 1.20601E-5 41459 0 7.95323E-6
1-19634725-T-C p.Tyr173Cys missense AKR7A2 2 82924 2.41185E-5 41462 0 9.89038E-5
1-19634726-A-G p.Tyr173His missense AKR7A2 1 82930 1.20584E-5 41465 0 NA
1-19634737-C-T p.Gly169Asp missense AKR7A2 11 82950 1.3261E-4 41475 0 5.06586E-4
1-19634747-C-T p.Val166Met missense AKR7A2 912 82976 0.0109911 41488 37 0.0233293
1-19634748-G-A p.Phe165Phe synonymous AKR7A2 1 82986 1.20502E-5 41493 0 1.81578E-4
1-19634754-G-T p.Gly163Gly splice_region+synonymous AKR7A2 2 82994 2.40981E-5 41497 0 NA
1-19634759-G-T c.487-3C>A splice_region AKR7A2 2 82986 2.41005E-5 41493 0 7.44873E-5
1-19634945-T-C c.486+4A>G splice_region AKR7A2 1 82866 1.20677E-5 41433 0 NA
1-19634963-G-A p.Arg158Trp missense AKR7A2 4 83078 4.81475E-5 41539 0 2.52317E-5
1-19634964-C-G p.Gln157His missense AKR7A2 3326 83016 0.0400646 41508 352 0.0826528
1-19634966-G-A p.Gln157* stop_gained AKR7A2 4 83128 4.81186E-5 41564 0 8.36386E-6
1-19634979-C-T p.Thr152Thr synonymous AKR7A2 74 83164 8.89808E-4 41582 0 0.0060423
1-19634981-T-C p.Thr152Ala missense AKR7A2 1 83178 1.20224E-5 41589 0 1.65396E-5
1-19634983-T-A p.Glu151Val missense AKR7A2 2 83184 2.40431E-5 41592 0 2.47967E-5
1-19634989-A-G p.Val149Ala missense AKR7A2 3 83172 3.60698E-5 41586 0 1.65139E-5
1-19634991-C-T p.Pro148Pro synonymous AKR7A2 7 83168 8.4167E-5 41584 0 0.00125156
1-19634992-G-A p.Pro148Leu missense AKR7A2 5 83146 6.01352E-5 41573 0 3.71397E-4
1-19634994-G-T p.Thr147Thr synonymous AKR7A2 1 83148 1.20267E-5 41574 0 NA
1-19634999-C-T p.Gly146Ser missense AKR7A2 1 83102 1.20334E-5 41551 0 3.18695E-5
1-19635000-G-A p.His145His synonymous AKR7A2 3 83118 3.60933E-5 41559 0 4.77293E-5
1-19635005-C-G p.Asp144His missense AKR7A2 1 83106 1.20328E-5 41553 0 NA
1-19635008-G-T p.Pro143Thr missense AKR7A2 1 83074 1.20375E-5 41537 0 NA
1-19635010-G-A p.Ala142Val missense AKR7A2 2 83086 2.40714E-5 41543 0 8.24171E-6
1-19635010-G-T p.Ala142Glu missense AKR7A2 1 83086 1.20357E-5 41543 0 NA
1-19635011-C-T p.Ala142Thr missense AKR7A2 7018 82804 0.0847544 41402 343 0.0866062
1-19635012-G-A p.His141His synonymous AKR7A2 128 83076 0.00154076 41538 1 0.00379029
1-19635013-T-C p.His141Arg missense AKR7A2 1 83070 1.2038E-5 41535 0 3.18695E-5
1-19635021-G-A p.Phe138Phe synonymous AKR7A2 1 83004 1.20476E-5 41502 0 NA
1-19635025-A-G p.Leu137Pro missense AKR7A2 4 82944 4.82253E-5 41472 0 2.47207E-5
1-19635029-C-T p.Asp136Asn missense AKR7A2 1 82926 1.20589E-5 41463 0 1.48324E-4
1-19635031-A-G p.Val135Ala missense AKR7A2 1 82900 1.20627E-5 41450 0 3.97671E-6
1-19635032-C-T p.Val135Met missense AKR7A2 31 82880 3.74035E-4 41440 0 0.00100705
1-19635033-T-C p.Gln134Gln synonymous AKR7A2 3 82866 3.6203E-5 41433 0 2.38608E-5
1-19635060-C-T p.Thr125Thr synonymous AKR7A2 3 82292 3.64555E-5 41146 0 3.29625E-5
1-19635061-G-A p.Thr125Met missense AKR7A2 3 82280 3.64609E-5 41140 0 1.19331E-5
1-19635066-C-T p.Leu123Leu synonymous AKR7A2 3 82156 3.65159E-5 41078 0 6.37308E-5
1-19635068-G-C p.Leu123Val missense AKR7A2 5 82070 6.09236E-5 41035 0 1.2747E-4
1-19635068-G-A p.Leu123Leu synonymous AKR7A2 1 82070 1.21847E-5 41035 0 8.24402E-6
1-19635074-A-T p.Ser121Thr missense AKR7A2 3 81838 3.66578E-5 40919 0 6.37836E-5
1-19635076-C-T p.Arg120Gln missense AKR7A2 4 81738 4.89368E-5 40869 0 3.18345E-5
1-19635077-G-A p.Arg120Trp missense AKR7A2 6 81652 7.34826E-5 40826 0 3.18796E-4
1-19635092-T-C p.Lys115Glu missense AKR7A2 1 80562 1.24128E-5 40281 0 7.96476E-6
1-19635098-A-G p.Ser113Pro missense AKR7A2 1 79992 1.25013E-5 39996 0 3.98413E-6
1-19635112-G-A p.Pro108Leu missense AKR7A2 17 78410 2.16809E-4 39205 0 0.00625
1-19635123-G-A p.Thr104Thr synonymous AKR7A2 9 76738 1.17282E-4 38369 0 6.05173E-4
1-19635141-G-A c.299-5C>T splice_region AKR7A2 4 73372 5.45167E-5 36686 0 1.59297E-4
1-19638317-T-C c.298+4A>G splice_region AKR7A2 45 74234 6.06191E-4 37117 0 0.00251889
1-19638334-A-C p.Gly95Gly synonymous AKR7A2 1 75644 1.32198E-5 37822 0 8.92268E-6
1-19638343-C-T p.Gly92Gly synonymous AKR7A2 3 76502 3.92147E-5 38251 0 8.93991E-6
1-19638344-C-T p.Gly92Glu missense AKR7A2 1 76706 1.30368E-5 38353 0 8.94086E-6
1-19638348-G-A p.Leu91Phe missense AKR7A2 1 77018 1.2984E-5 38509 0 9.8683E-5
1-19638349-C-G p.Gly90Gly synonymous AKR7A2 1 77086 1.29725E-5 38543 0 NA
1-19638373-G-A p.Ser82Ser synonymous AKR7A2 4 78088 5.12243E-5 39044 0 6.15425E-5
1-19638381-C-G p.Gly80Arg missense AKR7A2 1 77964 1.28264E-5 38982 0 9.33323E-6
1-19638385-G-A p.Ser78Ser synonymous AKR7A2 3 77898 3.85119E-5 38949 0 8.21834E-6
1-19638393-T-G p.Met76Leu missense AKR7A2 1 77860 1.28436E-5 38930 0 9.69537E-6
1-19638401-G-A p.Thr73Met missense AKR7A2 1 77522 1.28996E-5 38761 0 4.13603E-6
1-19638409-T-C p.Glu70Glu synonymous AKR7A2 1 77166 1.29591E-5 38583 0 NA
1-19638415-G-A p.His68His synonymous AKR7A2 1 76824 1.30168E-5 38412 0 1.14805E-5
1-19638422-C-A p.Arg66Leu missense AKR7A2 10 76328 1.31014E-4 38164 0 0.00187735
1-19638434-G-A p.Ala62Val missense AKR7A2 16 75546 2.11791E-4 37773 0 6.38407E-5
1-19638435-C-T p.Ala62Thr missense AKR7A2 21 75340 2.78736E-4 37670 0 0.00501882
1-19638439-CACGGCCGCGGCGCTG-C p.Ser56_Val60del disruptive_inframe_deletion AKR7A2 3 74874 4.00673E-5 37437 0 5.19895E-5
1-19638442-G-C p.Ala59Ala synonymous AKR7A2 1 74482 1.34261E-5 37241 0 NA
1-19638445-CGCGGCGCTGGCGGGCGCGTCCAT-C p.Met51fs frameshift AKR7A2 3 73968 4.05581E-5 36984 0 3.1957E-5
1-19638446-G-A p.Ala58Val missense AKR7A2 1 73818 1.35468E-5 36909 0 NA
1-19638449-G-A p.Ala57Val missense AKR7A2 2 73522 2.72027E-5 36761 0 1.08883E-5
1-19638460-C-T p.Ala53Ala synonymous AKR7A2 25 70812 3.53048E-4 35406 0 3.21089E-5
1-19638469-G-A p.Arg50Arg synonymous AKR7A2 1 70258 1.42333E-5 35129 0 NA
1-19638471-G-A p.Arg50Cys missense AKR7A2 1 69766 1.43336E-5 34883 0 NA
1-19638474-G-T p.Arg49Ser missense AKR7A2 1 69062 1.44797E-5 34531 0 1.32563E-5
1-19638493-C-T p.Leu42Leu synonymous AKR7A2 2 67772 2.95107E-5 33886 0 3.20739E-5
1-19638504-C-A p.Ala39Ser missense AKR7A2 1 65000 1.53846E-5 32500 0 1.07619E-4
1-19638509-C-A p.Arg37Leu missense AKR7A2 1 63930 1.56421E-5 31965 0 NA
1-19638512-G-A p.Pro36Leu missense AKR7A2 2 64034 3.12334E-5 32017 0 3.21399E-5
1-19638514-T-G p.Pro35Pro synonymous AKR7A2 1 63686 1.5702E-5 31843 0 NA
1-19638527-G-T p.Ser31Tyr missense AKR7A2 1 61790 1.61838E-5 30895 0 2.72777E-4
1-19638529-C-A p.Met30Ile missense AKR7A2 1 61426 1.62798E-5 30713 0 NA
1-19638535-G-A p.Leu28Leu synonymous AKR7A2 1 59596 1.67796E-5 29798 0 4.05614E-5
1-19638539-G-A p.Ala27Val missense AKR7A2 2 57802 3.46009E-5 28901 0 NA
1-19638545-G-C p.Ala25Gly missense AKR7A2 1 56868 1.75846E-5 28434 0 3.22977E-5
1-19638548-T-G p.Glu24Ala missense AKR7A2 4 56438 7.08742E-5 28219 0 3.23771E-5
1-19638557-G-T p.Pro21Gln missense AKR7A2 1687 54178 0.0311381 27089 29 0.0419463
1-19638566-AGC-A p.Leu18fs frameshift AKR7A2 1 52396 1.90854E-5 26198 0 NA
1-19638567-G-A p.Leu18Phe missense AKR7A2 2 52134 3.83627E-5 26067 0 1.4782E-4
1-19638568-C-T p.Ala17Ala synonymous AKR7A2 7 51604 1.35648E-4 25802 0 NA
1-19638569-G-C p.Ala17Gly missense AKR7A2 1 51500 1.94175E-5 25750 0 NA
1-19638571-G-A p.Cys16Cys synonymous AKR7A2 211 51244 0.00411756 25622 1 0.00991768
1-19638574-G-C p.His15Gln missense AKR7A2 1 50954 1.96255E-5 25477 0 NA
1-19638575-T-C p.His15Arg missense AKR7A2 1 50676 1.97332E-5 25338 0 NA
1-19638580-G-A p.Ala13Ala synonymous AKR7A2 1 49362 2.02585E-5 24681 0 2.13767E-4
1-19638582-C-T p.Ala13Thr missense AKR7A2 2 48356 4.13599E-5 24178 0 6.55308E-4
1-19638583-G-T p.Ala12Ala synonymous AKR7A2 1452 48182 0.0301357 24091 21 0.0276923
1-19638584-G-C p.Ala12Gly missense AKR7A2 2 47956 4.17049E-5 23978 0 0.00131234
1-19638586-G-GCGGGAGACTACGCGAGACGCGGCA p.Arg11_Ala12insAlaAlaSerArgValValSerArg disruptive_inframe_insertion AKR7A2 2 47286 4.22958E-5 23643 0 NA
1-19638586-G-A p.Arg11Arg synonymous AKR7A2 1 47286 2.11479E-5 23643 0 NA
1-19638586-G-T p.Arg11Arg synonymous AKR7A2 5 47282 1.05748E-4 23641 0 3.26413E-5
1-19638587-C-G p.Arg11Pro missense AKR7A2 9 46674 1.92827E-4 23337 0 2.80584E-4
1-19638589-GGA-G p.Ser10fs frameshift AKR7A2 24 47006 5.10573E-4 23503 0 0.00159122
1-19638590-G-GAGACTACGCGAGACGCGGC p.Ser10fs frameshift AKR7A2 113 46800 0.00241453 23400 2 0.00604839
1-19638590-G-A p.Ser10Phe missense AKR7A2 2 46848 4.26913E-5 23424 0 0.0025641
1-19638594-CTA-C p.Val8fs frameshift AKR7A2 19 45520 4.17399E-4 22760 0 0.00159329
1-19638600-G-A p.Arg7Cys missense AKR7A2 2 44262 4.51855E-5 22131 0 NA
1-19638602-G-A p.Ser6Phe missense AKR7A2 2 43958 4.5498E-5 21979 0 NA
1-19638604-C-G p.Ala5Ala synonymous AKR7A2 1 43248 2.31225E-5 21624 0 NA
1-19638605-G-A p.Ala5Val missense AKR7A2 1 43056 2.32256E-5 21528 0 1.6293E-4
1-19638606-C-T p.Ala5Thr missense AKR7A2 1 42606 2.34709E-5 21303 0 NA
1-19638607-G-A p.Ala4Ala synonymous AKR7A2 1 42750 2.33918E-5 21375 0 NA
1-19638608-G-C p.Ala4Gly missense AKR7A2 1 42508 2.3525E-5 21254 0 NA
1-19638612-T-G p.Ser3Arg missense AKR7A2 7 41486 1.68732E-4 20743 0 0.00385802
1-19638614-A-G p.Leu2Pro missense AKR7A2 1 41262 2.42354E-5 20631 0 NA
1-19638625-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain AKR7A2 4 37776 1.05887E-4 18888 0 3.31389E-5