Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-19609226-T-C p.Ter332Trpext*? stop_lost AKR7A3 1 83400 1.19904E-5 41700 0 7.95463E-6
1-19609229-C-T p.Arg331His missense AKR7A3 1 83400 1.19904E-5 41700 0 4.94927E-5
1-19609230-G-A p.Arg331Cys missense AKR7A3 7 83402 8.39308E-5 41701 0 6.38488E-5
1-19609231-G-A p.Phe330Phe synonymous AKR7A3 2 83400 2.39808E-5 41700 0 3.9775E-6
1-19609234-G-A p.Tyr329Tyr synonymous AKR7A3 2 83394 2.39825E-5 41697 0 3.29919E-5
1-19609248-C-T p.Glu325Lys missense AKR7A3 2 83386 2.39848E-5 41693 0 4.12276E-5
1-19609251-G-C p.His324Asp missense AKR7A3 1 83386 1.19924E-5 41693 0 NA
1-19609252-A-G p.Thr323Thr synonymous AKR7A3 1 83382 1.1993E-5 41691 0 1.98855E-5
1-19609254-T-C p.Thr323Ala missense AKR7A3 67656 83004 0.815093 41502 27678 0.827061
1-19609257-C-G p.Val322Leu missense AKR7A3 1 83372 1.19944E-5 41686 0 3.19203E-5
1-19609262-T-C p.His320Arg missense AKR7A3 217 83366 0.00260298 41683 6 0.00553877
1-19609282-G-A p.Asp313Asp synonymous AKR7A3 1086 83220 0.0130497 41610 39 0.0276939
1-19609287-C-T p.Val312Met missense AKR7A3 115 83208 0.00138208 41604 2 0.00291592
1-19609288-G-A p.Val311Val synonymous AKR7A3 1 83208 1.20181E-5 41604 0 3.20431E-5
1-19609294-C-T p.Pro309Pro synonymous AKR7A3 7 83172 8.41629E-5 41586 0 6.25E-4
1-19609295-G-A p.Pro309Leu missense AKR7A3 505 83150 0.00607336 41575 16 0.0122491
1-19609303-G-C p.Pro306Pro synonymous AKR7A3 1 83142 1.20276E-5 41571 0 NA
1-19609318-C-T p.Ala301Ala synonymous AKR7A3 14 83062 1.68549E-4 41531 1 0.00302115
1-19609318-C-A p.Ala301Ala synonymous AKR7A3 1 83060 1.20395E-5 41530 0 NA
1-19609319-G-A p.Ala301Val missense AKR7A3 23 83010 2.77075E-4 41505 0 0.0015121
1-19609340-T-C p.Gln294Arg missense AKR7A3 1 82914 1.20607E-5 41457 0 NA
1-19609342-C-G p.Glu293Asp missense AKR7A3 12 82876 1.44795E-4 41438 0 3.99747E-6
1-19609344-C-A p.Glu293* stop_gained AKR7A3 1 82880 1.20656E-5 41440 0 8.43925E-6
1-19609345-C-G p.Leu292Leu synonymous AKR7A3 1 82870 1.20671E-5 41435 0 4.00013E-6
1-19609348-G-A p.Ser291Ser synonymous AKR7A3 1 82846 1.20706E-5 41423 0 NA
1-19609354-C-T p.Met289Ile missense AKR7A3 1 82820 1.20744E-5 41410 0 3.21626E-5
1-19609360-C-T p.Leu287Leu synonymous AKR7A3 11 82768 1.32902E-4 41384 0 7.61486E-5
1-19609361-A-G p.Leu287Pro missense AKR7A3 22 82740 2.65893E-4 41370 1 7.39645E-4
1-19609362-G-A p.Leu287Leu synonymous AKR7A3 29 82722 3.50572E-4 41361 0 4.17138E-4
1-19609365-T-A p.Ile286Phe missense AKR7A3 1 82708 1.20907E-5 41354 0 3.21771E-5
1-19609370-G-A p.Ala284Val missense AKR7A3 129 82386 0.0015658 41193 2 0.00406924
1-19609372-G-A p.Asp283Asp synonymous AKR7A3 2 82440 2.42601E-5 41220 0 4.27467E-5
1-19609374-C-A p.Asp283Tyr missense AKR7A3 1 82404 1.21353E-5 41202 0 3.22393E-5
1-19609377-C-G p.Gly282Arg missense AKR7A3 3 82282 3.646E-5 41141 0 2.01332E-5
1-19609377-C-T p.Gly282Arg missense AKR7A3 1 82282 1.21533E-5 41141 0 8.57074E-6
1-19609378-G-A p.His281His synonymous AKR7A3 1450 81932 0.0176976 40966 114 0.0397636
1-19609385-C-A p.Gly279Val missense+splice_region AKR7A3 1 82002 1.21948E-5 41001 0 NA
1-19609386-C-T p.Gly279Ser missense+splice_region AKR7A3 130 81898 0.00158734 40949 2 0.00422472
1-19609389-G-A c.835-3C>T splice_region AKR7A3 1 81912 1.22082E-5 40956 0 4.02953E-6
1-19610483-T-C c.834+7A>G splice_region AKR7A3 220 82068 0.0026807 41034 5 0.0102786
1-19610487-T-C c.834+3A>G splice_region AKR7A3 1 82136 1.21749E-5 41068 0 NA
1-19610493-C-T p.Leu277Leu synonymous AKR7A3 7 82238 8.51188E-5 41119 0 5.35906E-4
1-19610499-T-C p.Ser275Ser synonymous AKR7A3 22 82270 2.67412E-4 41135 0 0.00438596
1-19610504-G-A p.His274Tyr missense AKR7A3 1 82304 1.21501E-5 41152 0 1.59345E-5
1-19610504-G-T p.His274Asn missense AKR7A3 2 82304 2.43002E-5 41152 0 3.1869E-5
1-19610522-G-A p.Leu268Phe missense AKR7A3 3 82500 3.63636E-5 41250 0 NA
1-19610525-T-C p.Thr267Ala missense AKR7A3 8 82482 9.69909E-5 41241 0 5.2521E-4
1-19610529-C-A p.Ser265Ser synonymous AKR7A3 1 82532 1.21165E-5 41266 0 NA
1-19610529-C-T p.Ser265Ser synonymous AKR7A3 5 82532 6.05826E-5 41266 0 6.38284E-5
1-19610530-G-A p.Ser265Leu missense AKR7A3 4 82554 4.84531E-5 41277 0 0.00104822
1-19610534-T-G p.Thr264Pro missense AKR7A3 3 82644 3.63003E-5 41322 0 1.99238E-5
1-19610536-A-G p.Met263Thr missense AKR7A3 3 82654 3.62959E-5 41327 0 3.19061E-5
1-19610538-GC-AT p.Ser262Asn missense AKR7A3 2 82662 2.41949E-5 41331 0 NA
1-19610546-C-T p.Ala260Thr missense AKR7A3 5 82638 6.05049E-5 41319 1 6.61857E-5
1-19610547-G-A p.Ser259Ser synonymous AKR7A3 9 82668 1.08869E-4 41334 1 6.25E-4
1-19610553-G-A p.Gly257Gly synonymous AKR7A3 3 82744 3.62564E-5 41372 0 4.38488E-5
1-19610559-C-A p.Ala255Ala synonymous AKR7A3 72 82772 8.69859E-4 41386 1 0.00361197
1-19610559-C-T p.Ala255Ala synonymous AKR7A3 4 82772 4.83255E-5 41386 0 4.96878E-5
1-19610560-G-A p.Ala255Val missense AKR7A3 8 82760 9.66651E-5 41380 0 2.23385E-4
1-19610560-G-C p.Ala255Gly missense AKR7A3 1 82760 1.20831E-5 41380 0 NA
1-19610562-G-A p.Ala254Ala synonymous AKR7A3 77 82764 9.30356E-4 41382 0 6.87781E-4
1-19610570-G-A p.Leu252Leu synonymous AKR7A3 2 82796 2.41558E-5 41398 0 6.37786E-5
1-19610574-C-T p.Lys250Lys synonymous AKR7A3 2 82784 2.41593E-5 41392 0 NA
1-19610578-T-A p.Glu249Val missense AKR7A3 4 82820 4.82975E-5 41410 0 1.66008E-5
1-19610587-G-A p.Ala246Val missense AKR7A3 1 82824 1.20738E-5 41412 0 NA
1-19610598-A-G p.Phe242Phe synonymous AKR7A3 2518 82724 0.0304386 41362 57 0.03506
1-19610609-C-T p.Glu239Lys missense AKR7A3 3 82748 3.62547E-5 41374 0 1.27779E-4
1-19610617-T-G p.Tyr236Ser missense+splice_region AKR7A3 1 82664 1.20972E-5 41332 0 NA
1-19610623-G-A c.705-4C>T splice_region AKR7A3 2 82598 2.42137E-5 41299 0 8.13372E-6
1-19610626-AG-A c.705-8delC splice_region AKR7A3 5 82530 6.0584E-5 41265 0 4.08654E-6
1-19611181-G-A p.Arg235Cys missense+splice_region AKR7A3 20 83226 2.4031E-4 41613 0 6.76003E-5
1-19611188-G-A p.Tyr232Tyr synonymous AKR7A3 1 83254 1.20114E-5 41627 0 8.23737E-6
1-19611190-A-G p.Tyr232His missense AKR7A3 8 83260 9.60846E-5 41630 0 8.23737E-6
1-19611197-T-C p.Ala229Ala synonymous AKR7A3 1 83274 1.20085E-5 41637 0 3.97643E-6
1-19611197-T-G p.Ala229Ala synonymous AKR7A3 1 83274 1.20085E-5 41637 0 4.11855E-5
1-19611201-C-T p.Trp228* stop_gained AKR7A3 1 83274 1.20085E-5 41637 0 5.96469E-5
1-19611202-AG-A p.Trp228fs frameshift AKR7A3 1 83274 1.20085E-5 41637 0 3.97643E-6
1-19611203-G-C p.Thr227Thr synonymous AKR7A3 1 83280 1.20077E-5 41640 0 NA
1-19611207-T-C p.Asn226Ser missense AKR7A3 2 83282 2.40148E-5 41641 0 NA
1-19611220-G-A p.Arg222Cys missense AKR7A3 5 83288 6.00327E-5 41644 0 3.19407E-5
1-19611225-A-G p.Val220Ala missense AKR7A3 5 83304 6.00211E-5 41652 0 6.3857E-5
1-19611226-C-T p.Val220Met missense AKR7A3 7 83302 8.40316E-5 41651 0 9.57916E-5
1-19611227-G-A p.Pro219Pro synonymous AKR7A3 14753 82922 0.177914 41461 1452 0.279375
1-19611232-G-A p.Gln218* stop_gained AKR7A3 1 83306 1.20039E-5 41653 0 3.97643E-6
1-19611239-A-G p.Asn215Asn synonymous AKR7A3 2 83308 2.40073E-5 41654 0 1.98821E-5
1-19611241-T-C p.Asn215Asp missense AKR7A3 67186 82978 0.809685 41489 27365 0.825833
1-19611248-C-G p.Glu212Asp missense AKR7A3 1 83308 1.20036E-5 41654 0 NA
1-19611265-C-T p.Gly207Ser missense AKR7A3 2 83296 2.40108E-5 41648 0 5.03525E-4
1-19611266-G-A p.Thr206Thr synonymous AKR7A3 3 83288 3.60196E-5 41644 0 0.00100705
1-19611267-G-A p.Thr206Ile missense AKR7A3 17 83282 2.04126E-4 41641 0 0.00100705
1-19611275-G-A p.Gly203Gly synonymous AKR7A3 1 83246 1.20126E-5 41623 0 8.23954E-6
1-19611281-T-C c.605-2A>G splice_acceptor AKR7A3 1 83242 1.20132E-5 41621 0 NA
1-19611507-C-T c.604+5G>A splice_region AKR7A3 10 81844 1.22184E-4 40922 0 6.3861E-5
1-19611508-G-A c.604+4C>T splice_region AKR7A3 1 81860 1.2216E-5 40930 0 3.19285E-5
1-19611508-G-C c.604+4C>G splice_region AKR7A3 1 81860 1.2216E-5 40930 0 NA
1-19611512-C-G p.Gly202Arg missense+splice_region AKR7A3 2 81950 2.44051E-5 40975 0 NA
1-19611526-A-T p.Phe197Tyr missense AKR7A3 3 82196 3.64981E-5 41098 0 1.48285E-4
1-19611527-A-T p.Phe197Ile missense AKR7A3 1 82216 1.21631E-5 41108 0 NA
1-19611529-GCATAGAACCT-G p.Arg193fs frameshift AKR7A3 1 82250 1.21581E-5 41125 0 5.17586E-5
1-19611537-C-A p.Arg193Ser missense AKR7A3 35 82470 4.24397E-4 41235 1 0.00108543
1-19611542-G-A p.Leu192Leu synonymous AKR7A3 1 82576 1.21101E-5 41288 0 3.19305E-5
1-19611551-G-A p.His189Tyr missense AKR7A3 2 82734 2.41739E-5 41367 0 4.94307E-5
1-19611553-C-T p.Arg188Lys missense AKR7A3 1 82770 1.20817E-5 41385 0 8.23832E-6
1-19611559-C-T p.Cys186Tyr missense AKR7A3 1 82852 1.20697E-5 41426 0 4.11929E-5
1-19611573-C-T p.Thr181Thr synonymous AKR7A3 4 82926 4.82358E-5 41463 0 1.91681E-4
1-19611574-G-A p.Thr181Met missense AKR7A3 2 82912 2.4122E-5 41456 0 1.19454E-5
1-19611582-C-T p.Gln178Gln synonymous AKR7A3 1 82948 1.20557E-5 41474 0 2.47255E-5
1-19611583-T-C p.Gln178Arg missense AKR7A3 145 82920 0.00174867 41460 6 0.00399336
1-19611587-G-A p.Arg177Trp missense AKR7A3 3 82960 3.6162E-5 41480 0 1.67239E-4
1-19611591-G-T p.Ile175Ile synonymous AKR7A3 3 82938 3.61716E-5 41469 0 0.004375
1-19611591-G-A p.Ile175Ile synonymous AKR7A3 1 82940 1.20569E-5 41470 0 3.19183E-5
1-19611592-A-G p.Ile175Thr missense AKR7A3 5 82942 6.02831E-5 41471 0 0.004375
1-19611595-G-A p.Ala174Val missense AKR7A3 1 82942 1.20566E-5 41471 0 NA
1-19611597-A-G p.Asn173Asn synonymous AKR7A3 8 82916 9.64832E-5 41458 0 0.004375
1-19611598-T-C p.Asn173Ser missense AKR7A3 7 82916 8.44228E-5 41458 0 0.004375
1-19611603-C-A p.Met171Ile missense AKR7A3 3 82942 3.61699E-5 41471 0 3.19264E-5
1-19611604-A-C p.Met171Arg missense AKR7A3 2 82932 2.41161E-5 41466 0 1.40273E-4
1-19611605-T-A p.Met171Leu missense AKR7A3 4 82918 4.82404E-5 41459 0 1.19468E-5
1-19612374-G-A c.507+8C>T splice_region AKR7A3 1 81710 1.22384E-5 40855 0 3.98273E-6
1-19612375-C-T c.507+7G>A splice_region AKR7A3 2 81716 2.4475E-5 40858 0 6.38447E-5
1-19612377-C-G c.507+5G>C splice_region AKR7A3 1 81728 1.22357E-5 40864 0 3.98235E-6
1-19612380-A-T c.507+2T>A splice_donor AKR7A3 1 81740 1.22339E-5 40870 0 8.24701E-6
1-19612381-C-T c.507+1G>A splice_donor AKR7A3 1 81742 1.22336E-5 40871 0 3.98206E-5
1-19612396-G-A p.Pro165Ser missense AKR7A3 1 81794 1.22258E-5 40897 0 2.47349E-5
1-19612408-C-T p.Gly161Ser missense AKR7A3 1 81840 1.2219E-5 40920 0 3.19407E-5
1-19612409-G-A p.Asn160Asn synonymous AKR7A3 2 81842 2.44373E-5 40921 0 5.77053E-5
1-19612412-G-A p.Ser159Ser synonymous AKR7A3 3 81864 3.66461E-5 40932 0 3.19224E-5
1-19612415-C-G p.Lys158Asn missense AKR7A3 2 81874 2.44278E-5 40937 0 3.2975E-5
1-19612424-G-A p.Thr155Thr synonymous AKR7A3 3 81894 3.66327E-5 40947 0 7.95969E-6
1-19612435-C-T p.Glu152Lys missense AKR7A3 6 81952 7.32136E-5 40976 0 1.15416E-4
1-19612446-CA-C p.Trp148fs frameshift AKR7A3 1 82060 1.21862E-5 41030 0 NA
1-19612451-T-G p.Ala146Ala synonymous AKR7A3 27 82100 3.28867E-4 41050 1 0.00106952
1-19612471-G-A p.Leu140Phe missense AKR7A3 7 82288 8.50671E-5 41144 0 9.58466E-5
1-19612477-C-T p.Val138Met missense AKR7A3 29860 80812 0.3695 40406 5989 0.432351
1-19612478-G-A p.Phe137Phe synonymous AKR7A3 1 82344 1.21442E-5 41172 0 1.98964E-5
1-19612481-C-A p.Lys136Asn missense AKR7A3 1 82380 1.21389E-5 41190 0 3.97975E-6
1-19612481-C-T p.Lys136Lys synonymous AKR7A3 1 82378 1.21392E-5 41189 0 8.32265E-6
1-19612492-C-T c.403-6G>A splice_region AKR7A3 1594 82304 0.0193672 41152 28 0.0225953
1-19612493-A-G c.403-7T>C splice_region AKR7A3 920 81800 0.0112469 40900 39 0.0245975
1-19612493-A-C c.403-7T>G splice_region AKR7A3 1 82410 1.21345E-5 41205 0 3.98546E-6
1-19612676-C-A c.402+3G>T splice_region AKR7A3 1 82726 1.20881E-5 41363 0 NA
1-19612677-A-G c.402+2T>C splice_donor AKR7A3 4 82750 4.83384E-5 41375 0 8.45995E-6
1-19612696-G-A p.His129Tyr missense AKR7A3 3 83002 3.61437E-5 41501 0 9.58099E-5
1-19612697-G-C p.Cys128Trp missense AKR7A3 1 83012 1.20465E-5 41506 0 NA
1-19612705-G-T p.Arg126Ser missense AKR7A3 1 83072 1.20378E-5 41536 0 NA
1-19612717-C-T p.Glu122Lys missense AKR7A3 310 83138 0.00372874 41569 9 0.00705645
1-19612721-C-T p.Pro120Pro synonymous AKR7A3 14 83184 1.68302E-4 41592 0 4.7905E-4
1-19612724-G-A p.Thr119Thr synonymous AKR7A3 70 83198 8.41366E-4 41599 3 0.00210661
1-19612725-G-T p.Thr119Asn missense AKR7A3 1 83206 1.20184E-5 41603 0 NA
1-19612725-G-A p.Thr119Ile missense AKR7A3 1 83206 1.20184E-5 41603 0 5.05051E-4
1-19612729-T-C p.Ser118Gly missense AKR7A3 2 83200 2.40385E-5 41600 0 NA
1-19612750-A-G p.Tyr111His missense AKR7A3 3 83242 3.60395E-5 41621 0 0.00151515
1-19612756-G-C p.Leu109Val missense AKR7A3 1 83248 1.20123E-5 41624 0 NA
1-19612759-C-A p.Asp108Tyr missense AKR7A3 4 83248 4.80492E-5 41624 0 2.87375E-4
1-19612760-C-T p.Val107Val synonymous AKR7A3 1 83242 1.20132E-5 41621 0 3.97706E-6
1-19612765-G-A p.Arg106* stop_gained AKR7A3 3 83268 3.60282E-5 41634 0 6.25E-4
1-19612771-A-G p.Cys104Arg missense AKR7A3 2 83266 2.40194E-5 41633 0 3.29783E-5
1-19612774-G-A p.Gln103* stop_gained AKR7A3 10 83276 1.20083E-4 41638 1 2.23485E-4
1-19612780-G-A p.Arg101Trp missense AKR7A3 2 83298 2.40102E-5 41649 0 3.57901E-5
1-19612786-G-A p.Leu99Leu synonymous AKR7A3 1 83304 1.20042E-5 41652 0 NA
1-19612800-T-C p.Gln94Arg missense AKR7A3 6 83312 7.20184E-5 41656 0 3.19326E-5
1-19612805-C-T p.Arg92Arg synonymous AKR7A3 3 83320 3.60058E-5 41660 0 8.2481E-6
1-19612806-C-T p.Arg92Gln missense AKR7A3 1 83322 1.20016E-5 41661 0 1.19318E-5
1-19612807-G-A p.Arg92Trp missense AKR7A3 8 83312 9.60246E-5 41656 0 4.94902E-5
1-19612823-C-A p.Leu86Leu synonymous AKR7A3 1 83318 1.20022E-5 41659 0 NA
1-19612837-A-T p.Phe82Ile missense AKR7A3 1 83306 1.20039E-5 41653 0 8.26241E-6
1-19612839-AGTGGAATG-A p.Ile79fs frameshift AKR7A3 2 83304 2.40085E-5 41652 0 3.30579E-5
1-19612839-A-C p.Leu81Arg missense AKR7A3 1 83304 1.20042E-5 41652 0 8.26446E-6
1-19612840-G-A p.Leu81Leu synonymous AKR7A3 1 83310 1.20034E-5 41655 0 8.26651E-6
1-19612843-G-C p.Pro80Ala missense AKR7A3 1 83310 1.20034E-5 41655 0 3.19203E-5
1-19612844-A-T p.Ile79Ile synonymous AKR7A3 1 83310 1.20034E-5 41655 0 NA
1-19612845-A-T p.Ile79Asn missense AKR7A3 1 83304 1.20042E-5 41652 0 8.27335E-6
1-19612850-C-T p.Lys77Lys synonymous AKR7A3 1 83302 1.20045E-5 41651 0 NA
1-19612856-A-G p.Asp75Asp synonymous AKR7A3 6 83292 7.20357E-5 41646 0 NA
1-19612859-A-C p.Ile74Met missense AKR7A3 1 83294 1.20057E-5 41647 0 8.30372E-6
1-19612869-G-T c.215-3C>A splice_region AKR7A3 1 83246 1.20126E-5 41623 0 NA
1-19612869-G-C c.215-3C>G splice_region AKR7A3 1 83246 1.20126E-5 41623 0 NA
1-19612871-G-A c.215-5C>T splice_region AKR7A3 1 83230 1.20149E-5 41615 0 6.25E-4
1-19614981-CACT-C c.214+6_214+8delAGT splice_region AKR7A3 1 78668 1.27116E-5 39334 0 2.45076E-5
1-19614983-C-T c.214+7G>A splice_region AKR7A3 1 78742 1.26997E-5 39371 0 NA
1-19614983-C-A c.214+7G>T splice_region AKR7A3 9 78742 1.14297E-4 39371 0 9.38714E-5
1-19614987-T-TA c.214+2_214+3insT splice_donor AKR7A3 2 78788 2.53846E-5 39394 0 NA
1-19614989-C-T c.214+1G>A splice_donor AKR7A3 1 78900 1.26743E-5 39450 0 NA
1-19614994-G-T p.Cys70* stop_gained AKR7A3 1 78960 1.26646E-5 39480 0 NA
1-19615002-T-C p.Ser68Gly missense AKR7A3 1 79044 1.26512E-5 39522 0 NA
1-19615003-G-GC p.Ser68fs frameshift AKR7A3 1 79030 1.26534E-5 39515 0 1.22146E-5
1-19615005-C-T p.Gly67Ser missense AKR7A3 2 79104 2.52832E-5 39552 0 9.5816E-5
1-19615013-C-T p.Arg64Gln missense AKR7A3 2 79168 2.52627E-5 39584 0 9.52381E-6
1-19615014-G-A p.Arg64Trp missense AKR7A3 17 79240 2.14538E-4 39620 0 2.23556E-4
1-19615016-A-T p.Leu63His missense AKR7A3 2 79292 2.52232E-5 39646 0 2.43094E-5
1-19615017-G-GC p.Leu63fs frameshift AKR7A3 1 79296 1.2611E-5 39648 0 4.0566E-6
1-19615019-C-T p.Gly62Glu missense AKR7A3 1 79330 1.26056E-5 39665 0 1.62174E-4
1-19615021-C-T p.Leu61Leu synonymous AKR7A3 1 79368 1.25995E-5 39684 0 4.05301E-6
1-19615023-G-A p.Leu61Leu synonymous AKR7A3 9 79048 1.13855E-4 39524 0 0.025625
1-19615026-C-A p.Gly60Cys missense AKR7A3 1 79364 1.26002E-5 39682 0 9.58626E-6
1-19615030-A-C p.Leu58Leu synonymous AKR7A3 6 79074 7.58783E-5 39537 0 0.025625
1-19615033-G-T p.Ile57Ile synonymous AKR7A3 2 79472 2.51661E-5 39736 0 NA
1-19615041-C-T p.Glu55Lys missense AKR7A3 261 79436 0.00328566 39718 4 0.00404202
1-19615042-G-A p.Ser54Ser synonymous AKR7A3 188 79436 0.00236669 39718 5 0.00873923
1-19615051-C-G p.Glu51Asp missense AKR7A3 80 79378 0.00100784 39689 0 0.01625
1-19615051-C-T p.Glu51Glu synonymous AKR7A3 14 79444 1.76225E-4 39722 0 0.00140755
1-19615053-C-A p.Glu51* stop_gained AKR7A3 1 79432 1.25894E-5 39716 0 NA
1-19615062-C-G p.Val48Leu missense AKR7A3 30 79302 3.78301E-4 39651 0 0.015
1-19615069-C-T p.Thr45Thr synonymous AKR7A3 1 79234 1.26208E-5 39617 0 4.13668E-6
1-19615070-G-A p.Thr45Met missense AKR7A3 2 79238 2.52404E-5 39619 0 1.17462E-5
1-19615071-T-C p.Thr45Ala missense AKR7A3 1 79212 1.26243E-5 39606 0 NA
1-19615073-T-A p.Asp44Val missense AKR7A3 1 79198 1.26266E-5 39599 0 NA
1-19615076-A-G p.Ile43Thr missense AKR7A3 1 79134 1.26368E-5 39567 0 2.23669E-4
1-19615089-C-T p.Gly39Ser missense AKR7A3 2 78796 2.5382E-5 39398 0 2.93988E-5
1-19615091-C-T p.Arg38His missense AKR7A3 1 78684 1.27091E-5 39342 0 1.50399E-5
1-19615105-G-A p.Arg33Arg synonymous AKR7A3 2 78142 2.55944E-5 39071 0 3.20431E-5
1-19615108-C-T p.Thr32Thr synonymous AKR7A3 9 77996 1.15391E-4 38998 0 1.2335E-4
1-19615113-CTGCGGCGCTGGTGGGCGCGTCCA-C p.Met23fs frameshift AKR7A3 4 77870 5.13677E-5 38935 0 0.00939348
1-19615119-C-T p.Ala29Thr missense AKR7A3 6 77324 7.75956E-5 38662 0 2.55853E-4
1-19615122-T-C p.Ser28Gly missense AKR7A3 7 77166 9.07135E-5 38583 0 6.34921E-4
1-19615124-G-A p.Thr27Ile missense AKR7A3 1 77000 1.2987E-5 38500 0 NA
1-19615130-G-C p.Ala25Gly missense AKR7A3 1 76352 1.30972E-5 38176 0 6.39223E-6
1-19615137-T-C p.Met23Val missense AKR7A3 4 75990 5.26385E-5 37995 0 5.51815E-5
1-19615139-C-T p.Arg22His missense AKR7A3 2 75646 2.64389E-5 37823 0 NA
1-19615154-A-G p.Met17Thr missense AKR7A3 1 74290 1.34608E-5 37145 0 NA
1-19615156-G-T p.Ala16Ala synonymous AKR7A3 1 73978 1.35175E-5 36989 0 NA
1-19615165-C-T p.Val13Val synonymous AKR7A3 47 72890 6.44807E-4 36445 0 3.2529E-4
1-19615165-C-A p.Val13Val synonymous AKR7A3 4 72900 5.48697E-5 36450 0 NA
1-19615167-C-A p.Val13Leu missense AKR7A3 2 72732 2.74982E-5 36366 0 1.52875E-5
1-19615173-C-T p.Ala11Thr missense AKR7A3 2 72266 2.76755E-5 36133 0 3.19591E-5
1-19615178-C-T p.Arg9Gln missense AKR7A3 1 71648 1.39571E-5 35824 0 NA
1-19615179-G-A p.Arg9Trp missense AKR7A3 3 71606 4.18959E-5 35803 0 3.19489E-5
1-19615187-G-A p.Ser6Leu missense AKR7A3 3 70936 4.22916E-5 35468 0 3.49424E-5
1-19615188-A-G p.Ser6Pro missense AKR7A3 1 70800 1.41243E-5 35400 0 6.40287E-5
1-19615189-C-T p.Leu5Leu synonymous AKR7A3 1 70856 1.41131E-5 35428 0 NA
1-19615196-C-T p.Arg3Gln missense AKR7A3 4 70020 5.71265E-5 35010 0 4.22804E-4
1-19615198-G-A p.Ser2Ser synonymous AKR7A3 1 70070 1.42714E-5 35035 0 NA
1-19615240-C-A c.-37G>T 5_prime_UTR_premature_start_codon_gain AKR7A3 2 63218 3.16366E-5 31609 0 NA
1-19615298-G-A c.-95C>T 5_prime_UTR_premature_start_codon_gain AKR7A3 1 51648 1.93618E-5 25824 0 6.38447E-5
1-19615316-C-G c.-113G>C 5_prime_UTR_premature_start_codon_gain AKR7A3 1 45528 2.19645E-5 22764 0 NA
1-19615339-G-A c.-136C>T 5_prime_UTR_premature_start_codon_gain AKR7A3 1 37598 2.65972E-5 18799 0 NA
1-19615364-C-T c.-161G>A 5_prime_UTR_premature_start_codon_gain AKR7A3 2 27582 7.25111E-5 13791 0 NA
1-19615371-G-A c.-168C>T 5_prime_UTR_premature_start_codon_gain AKR7A3 1 25780 3.87898E-5 12890 0 NA
1-19615386-T-A c.-183A>T 5_prime_UTR_premature_start_codon_gain AKR7A3 2 23086 8.66326E-5 11543 0 NA
1-19615411-G-C c.-208C>G 5_prime_UTR_premature_start_codon_gain AKR7A3 108 17536 0.00615876 8768 0 0.00688205
1-19615481-G-A c.-278C>T 5_prime_UTR_premature_start_codon_gain AKR7A3 2 7060 2.83286E-4 3530 0 NA