Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-69688533-T-C c.*266A>G splice_region AAK1 12 7198 0.00166713 3599 0 0.00664282
2-69688800-C-T p.Ter675Ter stop_retained AAK1 1 26382 3.79046E-5 13191 0 NA
2-69688823-G-T p.Asp667Glu missense AAK1 1 22566 4.43145E-5 11283 0 NA
2-69688834-C-T p.Glu664Lys missense AAK1 9 20376 4.41696E-4 10188 0 0.00298635
2-69688844-C-A c.1987-7G>T splice_region AAK1 1 17878 5.59347E-5 8939 0 4.63607E-4
2-69703006-G-A p.Leu961Leu synonymous AAK1 1 81910 1.22085E-5 40955 0 2.04558E-5
2-69703007-G-A p.Asp960Asp synonymous AAK1 1 81912 1.22082E-5 40956 0 1.2266E-5
2-69703016-C-T p.Gln957Gln synonymous AAK1 1 81866 1.22151E-5 40933 0 3.18613E-5
2-69703040-G-A p.Ala949Ala synonymous AAK1 2 81812 2.44463E-5 40906 0 NA
2-69703060-A-C p.Ser943Ala missense AAK1 1 81680 1.22429E-5 40840 0 NA
2-69703062-T-C p.Glu942Gly missense AAK1 1 81632 1.22501E-5 40816 0 4.05453E-6
2-69703102-G-A c.2792-7C>T splice_region AAK1 1 81112 1.23286E-5 40556 0 NA
2-69704022-T-G p.Lys927Asn missense AAK1 1 82340 1.21448E-5 41170 0 NA
2-69704032-A-C p.Leu924Trp missense AAK1 2 82348 2.42872E-5 41174 0 NA
2-69704068-T-C p.Lys912Arg missense AAK1 1 82420 1.2133E-5 41210 0 NA
2-69704074-G-A p.Ser910Leu missense AAK1 1 82372 1.214E-5 41186 0 1.76407E-5
2-69704102-T-A p.Ile901Phe missense AAK1 1 82156 1.2172E-5 41078 0 4.04433E-6
2-69704103-G-A p.Leu900Leu synonymous AAK1 3 82160 3.65141E-5 41080 0 1.21428E-5
2-69704107-T-C p.Asn899Ser missense AAK1 2 82092 2.43629E-5 41046 0 4.05453E-6
2-69704112-A-G p.Asp897Asp synonymous AAK1 3 81992 3.65889E-5 40996 0 6.37024E-5
2-69704130-C-G c.2681-8G>C splice_region AAK1 3 81538 3.67927E-5 40769 0 1.59307E-4
2-69704130-C-T c.2681-8G>A splice_region AAK1 1 81538 1.22642E-5 40769 0 4.28335E-6
2-69706075-G-C c.2680+8C>G splice_region AAK1 2 82348 2.42872E-5 41174 0 2.48575E-5
2-69706083-C-A p.Ala894Ser missense+splice_region AAK1 2 82438 2.42607E-5 41219 0 3.18552E-5
2-69706083-C-T p.Ala894Thr missense+splice_region AAK1 1 82438 1.21303E-5 41219 0 NA
2-69706104-T-C p.Ile887Val missense AAK1 7 82582 8.47642E-5 41291 0 2.40154E-4
2-69706110-T-C p.Thr885Ala missense AAK1 5 82572 6.05532E-5 41286 0 2.22958E-4
2-69706122-C-T p.Glu881Lys missense AAK1 1 82606 1.21057E-5 41303 0 NA
2-69706137-T-C p.Thr876Ala missense AAK1 2 82608 2.42107E-5 41304 0 1.60539E-5
2-69706140-T-C p.Thr875Ala missense AAK1 6 82594 7.26445E-5 41297 0 8.42866E-5
2-69706157-G-C p.Ser869Cys missense AAK1 3 82570 3.63328E-5 41285 0 6.37024E-5
2-69706160-C-CT p.Cys868fs frameshift AAK1 1 82562 1.21121E-5 41281 0 NA
2-69706160-C-T p.Cys868Tyr missense AAK1 2 82562 2.42242E-5 41281 0 6.25E-4
2-69706171-G-C p.Ser864Ser synonymous AAK1 1 82536 1.21159E-5 41268 0 8.28267E-6
2-69706172-G-C p.Ser864Cys missense AAK1 1 82534 1.21162E-5 41267 0 NA
2-69706182-C-T p.Gly861Arg missense AAK1 1 82470 1.21256E-5 41235 0 1.65681E-5
2-69706182-C-G p.Gly861Arg missense AAK1 1 82470 1.21256E-5 41235 0 NA
2-69706183-G-A p.Thr860Thr synonymous AAK1 10 82460 1.21271E-4 41230 0 1.9118E-4
2-69706191-A-G p.Ser858Pro missense+splice_region AAK1 1 82398 1.21362E-5 41199 0 6.36983E-5
2-69706194-C-G c.2570-1G>C splice_acceptor AAK1 1 82348 1.21436E-5 41174 0 NA
2-69706200-C-T c.2570-7G>A splice_region AAK1 1 82306 1.21498E-5 41153 0 3.2151E-5
2-69707992-C-A p.Asp857Tyr missense+splice_region AAK1 1 81222 1.23119E-5 40611 0 NA
2-69708002-C-T p.Ser853Ser synonymous AAK1 1 81418 1.22823E-5 40709 0 NA
2-69708003-G-A p.Ser853Leu missense AAK1 1 81442 1.22787E-5 40721 0 NA
2-69708014-T-C p.Glu849Glu synonymous AAK1 1 81608 1.22537E-5 40804 0 3.70453E-5
2-69708017-C-T p.Thr848Thr synonymous AAK1 1 81664 1.22453E-5 40832 0 8.58516E-6
2-69708018-G-A p.Thr848Met missense AAK1 1 81696 1.22405E-5 40848 0 5.24916E-5
2-69708021-T-C p.Gln847Arg missense AAK1 25 81740 3.05848E-4 40870 0 1.84316E-4
2-69708026-T-A p.Pro845Pro synonymous AAK1 1 81794 1.22258E-5 40897 0 4.2318E-6
2-69708033-C-T p.Arg843His missense AAK1 16 81814 1.95566E-4 40907 0 4.14065E-4
2-69708034-G-A p.Arg843Cys missense AAK1 1 81834 1.22199E-5 40917 0 1.51103E-5
2-69708040-G-A p.Pro841Ser missense AAK1 1 81900 1.221E-5 40950 0 NA
2-69708044-T-G p.Pro839Pro synonymous AAK1 1 81886 1.22121E-5 40943 0 4.2073E-6
2-69708045-G-A p.Pro839Leu missense AAK1 2 81874 2.44278E-5 40937 0 2.93126E-5
2-69708047-G-T p.Pro838Pro synonymous AAK1 43 81904 5.25005E-4 40952 0 0.0013696
2-69708086-A-C p.Ala825Ala synonymous AAK1 1 81876 1.22136E-5 40938 0 NA
2-69708099-G-A c.2468-6C>T splice_region AAK1 2 81788 2.44535E-5 40894 0 3.89636E-5
2-69708188-A-T c.*1530T>A splice_region AAK1 1 74242 1.34695E-5 37121 0 NA
2-69709727-C-G p.Lys861Asn missense AAK1 1 74800 1.3369E-5 37400 0 NA
2-69709758-A-G p.Leu851Pro missense AAK1 1 77270 1.29416E-5 38635 0 1.07573E-4
2-69709766-G-C p.Asn848Lys missense AAK1 1 78182 1.27907E-5 39091 0 NA
2-69709771-C-T p.Val847Ile missense AAK1 8 78578 1.0181E-4 39289 0 6.36862E-5
2-69709774-G-C p.Leu846Val missense AAK1 346 78860 0.00438752 39430 3 0.0100975
2-69709774-G-T p.Leu846Ile missense AAK1 5 78876 6.33906E-5 39438 0 4.60167E-4
2-69709784-A-T p.Asn842Lys missense AAK1 2 79564 2.5137E-5 39782 0 4.99746E-5
2-69709795-A-C p.Cys839Gly missense AAK1 1 80188 1.24707E-5 40094 0 1.83966E-5
2-69709806-T-C p.Asp835Gly missense AAK1 1 80760 1.23824E-5 40380 0 3.18532E-5
2-69709810-G-A p.His834Tyr missense AAK1 314 80918 0.00388047 40459 4 0.00624403
2-69709813-T-C p.Met833Val missense AAK1 2 81014 2.46871E-5 40507 0 NA
2-69709829-G-A p.Ile827Ile synonymous AAK1 1 81540 1.22639E-5 40770 0 NA
2-69709834-T-C p.Ile826Val missense AAK1 1 81644 1.22483E-5 40822 0 9.26303E-6
2-69709837-C-T p.Val825Ile missense AAK1 1 81728 1.22357E-5 40864 0 4.02136E-6
2-69709842-C-T c.2467+1G>A splice_donor AAK1 2 81786 2.44541E-5 40893 0 NA
2-69709846-T-C p.Ile822Val missense AAK1 3 81894 3.66327E-5 40947 0 NA
2-69709850-A-G p.Ala820Ala synonymous AAK1 4 81930 4.88222E-5 40965 0 1.59205E-4
2-69709862-G-T p.Ser816Arg missense AAK1 2 82016 2.43855E-5 41008 0 4.01584E-6
2-69709866-C-T p.Gly815Asp missense AAK1 2 82042 2.43778E-5 41021 0 NA
2-69709876-C-T p.Asp812Asn missense AAK1 1 82098 1.21806E-5 41049 0 NA
2-69709878-G-T p.Thr811Lys missense AAK1 1 82096 1.21809E-5 41048 0 NA
2-69709898-G-A p.Leu804Leu synonymous AAK1 1 82182 1.21681E-5 41091 0 NA
2-69709912-T-C p.Thr800Ala missense AAK1 2 82176 2.4338E-5 41088 0 4.01613E-6
2-69709919-A-G p.Ser797Ser synonymous AAK1 12546 81776 0.153419 40888 1010 0.164009
2-69709923-T-C p.Lys796Arg missense AAK1 1 82128 1.21761E-5 41064 0 NA
2-69709935-A-G p.Ile792Thr missense AAK1 2 81998 2.43908E-5 40999 0 8.79477E-6
2-69709948-C-T c.2366-4G>A splice_region AAK1 1 81710 1.22384E-5 40855 0 6.36983E-5
2-69723113-C-T c.2365+4G>A splice_region AAK1 2 81302 2.45996E-5 40651 0 NA
2-69723114-T-C c.2365+3A>G splice_region AAK1 5 81310 6.14931E-5 40655 0 1.25807E-5
2-69723120-G-A p.Pro788Ser missense AAK1 6 81346 7.3759E-5 40673 0 1.39237E-4
2-69723120-G-T p.Pro788Thr missense AAK1 2 81346 2.45863E-5 40673 0 NA
2-69723121-T-C p.Ala787Ala synonymous AAK1 2 81356 2.45833E-5 40678 0 NA
2-69723144-T-A p.Ile780Phe missense AAK1 1 81618 1.22522E-5 40809 0 NA
2-69723154-A-G p.Ser776Ser synonymous AAK1 1 81688 1.22417E-5 40844 0 NA
2-69723159-C-T p.Val775Met missense AAK1 1 81672 1.22441E-5 40836 0 0.00102354
2-69723160-G-A p.Ser774Ser synonymous AAK1 222 81654 0.00271879 40827 1 0.00631096
2-69723170-G-C p.Pro771Arg missense AAK1 50 81684 6.12115E-4 40842 0 0.0029305
2-69723170-G-A p.Pro771Leu missense AAK1 4 81690 4.89656E-5 40845 0 1.76819E-4
2-69723171-G-T p.Pro771Thr missense AAK1 6 81690 7.34484E-5 40845 0 1.21813E-5
2-69723175-G-A p.Gly769Gly synonymous AAK1 3 81698 3.67206E-5 40849 0 NA
2-69723177-C-A p.Gly769Cys missense AAK1 6 81694 7.34448E-5 40847 0 NA
2-69723179-G-C p.Ser768Cys missense AAK1 2 81690 2.44828E-5 40845 1 NA
2-69723180-A-G p.Ser768Pro missense AAK1 1 81690 1.22414E-5 40845 0 NA
2-69723185-A-G p.Val766Ala missense AAK1 8 81708 9.79096E-5 40854 0 3.47544E-4
2-69723196-A-G p.Gly762Gly synonymous AAK1 1 81638 1.22492E-5 40819 0 1.23616E-5
2-69723220-T-C c.2270-8A>G splice_region AAK1 2 81410 2.4567E-5 40705 0 4.52489E-5
2-69732693-A-G c.2269+8T>C splice_region AAK1 1 82476 1.21247E-5 41238 0 NA
2-69732694-T-C c.2269+7A>G splice_region AAK1 2 82500 2.42424E-5 41250 0 3.18552E-5
2-69732701-C-G p.Ala757Pro missense+splice_region AAK1 1 82542 1.2115E-5 41271 0 NA
2-69732709-G-A p.Ala754Val missense AAK1 2 82592 2.42154E-5 41296 0 8.41878E-6
2-69732722-T-C p.Thr750Ala missense AAK1 1 82666 1.20969E-5 41333 0 2.50794E-5
2-69732723-C-T p.Thr749Thr synonymous AAK1 2 82670 2.41926E-5 41335 0 8.83215E-5
2-69732724-G-A p.Thr749Met missense AAK1 3 82676 3.62862E-5 41338 1 4.17634E-5
2-69732727-G-A p.Ala748Val missense AAK1 1 82700 1.20919E-5 41350 0 NA
2-69732750-T-C p.Gln740Gln synonymous AAK1 1 82696 1.20925E-5 41348 0 3.33712E-5
2-69732769-C-A p.Ser734Ile missense AAK1 1 82674 1.20957E-5 41337 0 NA
2-69732787-A-G p.Leu728Pro missense AAK1 5 82576 6.05503E-5 41288 0 NA
2-69732795-G-A p.Pro725Pro synonymous AAK1 4 82510 4.8479E-5 41255 0 1.60883E-5
2-69732797-G-T p.Pro725Thr missense AAK1 57 82500 6.90909E-4 41250 0 5.09716E-4
2-69732809-G-C c.2165-4C>G splice_region AAK1 1 82386 1.2138E-5 41193 0 3.18634E-5
2-69734546-T-C c.2164+7A>G splice_region AAK1 2 82404 2.42707E-5 41202 0 4.08267E-6
2-69734554-T-C p.Glu721Glu splice_region+synonymous AAK1 20 82566 2.4223E-4 41283 0 2.03298E-5
2-69734560-A-C p.Leu719Leu synonymous AAK1 301 82658 0.00364151 41329 9 0.00627508
2-69734560-A-G p.Leu719Leu synonymous AAK1 2 82660 2.41955E-5 41330 0 4.05564E-6
2-69734563-C-A p.Lys718Asn missense AAK1 1 82690 1.20934E-5 41345 0 NA
2-69734578-G-T p.Asn713Lys missense AAK1 1 82820 1.20744E-5 41410 0 NA
2-69734617-G-A p.Asp700Asp synonymous AAK1 89 82836 0.00107441 41418 0 6.72533E-4
2-69734626-G-C p.Pro697Pro synonymous AAK1 4 82856 4.82765E-5 41428 0 9.7641E-5
2-69734628-G-A p.Pro697Ser missense AAK1 1 82850 1.207E-5 41425 0 NA
2-69734635-C-T p.Thr694Thr synonymous AAK1 16 82866 1.93083E-4 41433 0 2.27204E-4
2-69734636-G-A p.Thr694Met missense AAK1 452 82858 0.00545512 41429 2 0.00699198
2-69734637-T-C p.Thr694Ala missense AAK1 1 82862 1.20683E-5 41431 0 4.05656E-6
2-69734648-G-A p.Ser690Leu missense AAK1 2 82858 2.41377E-5 41429 0 3.18471E-5
2-69734657-T-C p.Tyr687Cys missense AAK1 1 82854 1.20694E-5 41427 0 4.00681E-5
2-69734661-C-T p.Val686Ile missense AAK1 3 82846 3.62118E-5 41423 0 5.03789E-5
2-69734662-G-A p.Asn685Asn synonymous AAK1 4 82850 4.828E-5 41425 0 2.03028E-5
2-69734670-G-A p.Gln683* stop_gained AAK1 1 82842 1.20712E-5 41421 0 NA
2-69734671-A-C p.Ser682Ser synonymous AAK1 2 82846 2.41412E-5 41423 0 5.13189E-5
2-69734678-C-T p.Arg680Gln missense AAK1 1 82814 1.20753E-5 41407 0 NA
2-69734680-A-G p.Pro679Pro synonymous AAK1 1 82804 1.20767E-5 41402 0 1.25271E-4
2-69734702-G-C p.Thr672Ser missense AAK1 2 82684 2.41885E-5 41342 0 NA
2-69734716-T-C c.2007-6A>G splice_region AAK1 1 82502 1.21209E-5 41251 0 2.47776E-5
2-69736355-C-A c.2006+8G>T splice_region AAK1 2 81890 2.4423E-5 40945 0 NA
2-69736378-C-T p.Ser664Asn missense AAK1 1 82322 1.21474E-5 41161 0 1.20381E-5
2-69736389-T-C p.Ala660Ala synonymous AAK1 1 82420 1.2133E-5 41210 0 NA
2-69736402-A-C p.Leu656Arg missense AAK1 1 82406 1.2135E-5 41203 0 NA
2-69736424-C-A p.Ala649Ser missense AAK1 1 82490 1.21227E-5 41245 0 NA
2-69736432-C-T p.Gly646Glu missense AAK1 2 82482 2.42477E-5 41241 0 NA
2-69736442-C-A p.Ala643Ser missense AAK1 1 82432 1.21312E-5 41216 0 NA
2-69736446-G-A p.His641His synonymous AAK1 4 82434 4.85237E-5 41217 0 2.0057E-5
2-69736449-G-T p.Thr640Thr synonymous AAK1 1 82426 1.21321E-5 41213 0 8.28089E-6
2-69736455-G-A p.Asp638Asp synonymous AAK1 1 82400 1.21359E-5 41200 0 3.31241E-5
2-69736461-G-C p.Leu636Leu synonymous AAK1 1 82400 1.21359E-5 41200 0 1.2034E-5
2-69736471-C-T p.Arg633Lys missense AAK1 1 82350 1.21433E-5 41175 0 3.18634E-5
2-69736472-T-G p.Arg633Arg synonymous AAK1 1 82338 1.21451E-5 41169 0 NA
2-69736483-C-T p.Arg629His missense AAK1 3 82252 3.64733E-5 41126 0 3.18593E-5
2-69736501-G-A p.Ser623Leu missense AAK1 1 82166 1.21705E-5 41083 0 8.28693E-6
2-69736503-G-T p.Pro622Pro synonymous AAK1 1 82142 1.2174E-5 41071 0 8.02407E-6
2-69736514-G-C p.Leu619Val missense AAK1 5 82004 6.09726E-5 41002 0 1.27421E-4
2-69736516-G-C p.Ser618Cys missense AAK1 1 81978 1.21984E-5 40989 0 NA
2-69736524-T-C p.Lys615Lys synonymous AAK1 1 81806 1.2224E-5 40903 0 8.02678E-6
2-69736533-C-T p.Gln612Gln synonymous AAK1 1 81572 1.22591E-5 40786 0 NA
2-69736538-C-T p.Val611Ile missense AAK1 1 81268 1.2305E-5 40634 0 2.00723E-5
2-69736546-G-T p.Pro608His missense AAK1 2 80738 2.47715E-5 40369 0 4.01465E-6
2-69736561-A-G p.Val603Ala missense AAK1 2364 79896 0.0295885 39948 38 0.0244518
2-69736575-T-C p.Arg598Arg synonymous AAK1 1 79278 1.26138E-5 39639 0 NA
2-69736578-T-C p.Val597Val synonymous AAK1 3 79120 3.79171E-5 39560 0 3.18979E-5
2-69736592-T-TCG c.1777-1_1777insCG splice_acceptor AAK1 1 78216 1.27851E-5 39108 0 NA
2-69736595-G-GGCTC c.1777-4_1777-3insGAGC splice_region AAK1 1 77898 1.28373E-5 38949 0 NA
2-69736599-G-A c.1777-7C>T splice_region AAK1 2 77532 2.57958E-5 38766 0 NA
2-69741603-C-T p.Ala592Ala splice_region+synonymous AAK1 1 78204 1.27871E-5 39102 0 NA
2-69741604-G-A p.Ala592Val missense+splice_region AAK1 1 78216 1.27851E-5 39108 0 1.367E-5
2-69741609-C-T p.Glu590Glu synonymous AAK1 27712 76744 0.361097 38372 5226 0.40815
2-69741615-G-A p.Ala588Ala synonymous AAK1 1 78518 1.27359E-5 39259 0 0.00125
2-69741664-C-A p.Gly572Val missense AAK1 1 79076 1.26461E-5 39538 0 NA
2-69741667-G-A p.Ala571Val missense AAK1 1 79072 1.26467E-5 39536 0 3.18512E-5
2-69741671-C-T p.Ala570Thr missense AAK1 3 79200 3.78788E-5 39600 0 3.18451E-5
2-69741681-C-T p.Lys566Lys synonymous AAK1 3 79292 3.78348E-5 39646 0 1.25862E-5
2-69741690-C-T p.Leu563Leu synonymous AAK1 1 79332 1.26053E-5 39666 0 NA
2-69741701-G-T p.Gln560Lys missense AAK1 1 79390 1.2596E-5 39695 0 NA
2-69741704-G-C p.Gln559Glu missense AAK1 1 79408 1.25932E-5 39704 0 3.18431E-5
2-69741711-C-G p.Leu556Leu synonymous AAK1 1 79428 1.259E-5 39714 0 5.34531E-6
2-69741713-G-A p.Leu556Leu synonymous AAK1 1 79420 1.25913E-5 39710 0 3.4904E-5
2-69741715-T-C p.Gln555Arg missense AAK1 1 79440 1.25881E-5 39720 0 5.18247E-6
2-69741718-T-G p.Gln554Pro missense AAK1 1 79468 1.25837E-5 39734 0 NA
2-69741739-A-T p.Leu547Gln missense AAK1 2 79492 2.51598E-5 39746 0 NA
2-69741740-G-C p.Leu547Val missense AAK1 1 79500 1.25786E-5 39750 0 NA
2-69741747-CTGTTGCTGT-C p.Gln542_Gln544del disruptive_inframe_deletion AAK1 1 79518 1.25758E-5 39759 0 2.13959E-5
2-69741753-CTGT-C p.Gln542del disruptive_inframe_deletion AAK1 30094 78934 0.381255 39467 5754 0.468891
2-69741753-CTGTTGT-C p.Gln541_Gln542del disruptive_inframe_deletion AAK1 1 79520 1.25755E-5 39760 0 1.31975E-5
2-69741759-TTGTTGC-T p.Gln539_Gln540del disruptive_inframe_deletion AAK1 1 79492 1.25799E-5 39746 0 3.90634E-4
2-69741759-TTGTTGCTGC-T p.Gln538_Gln540del disruptive_inframe_deletion AAK1 2 79542 2.51439E-5 39771 0 NA
2-69741762-TTGCTGCTGC-T p.Gln537_Gln539del disruptive_inframe_deletion AAK1 2 79548 2.51421E-5 39774 0 4.42392E-6
2-69741762-T-C p.Gln539Gln synonymous AAK1 2 79546 2.51427E-5 39773 0 0.0015544
2-69741762-TTGC-T p.Gln539del disruptive_inframe_deletion AAK1 2 79458 2.51705E-5 39729 0 0.347555
2-69741762-T-TTGC p.Gln539dup disruptive_inframe_insertion AAK1 15 79548 1.88565E-4 39774 0 1.91767E-4
2-69741762-T-TGC p.Gln540fs frameshift AAK1 1 79548 1.2571E-5 39774 0 NA
2-69741765-C-T p.Gln538Gln synonymous AAK1 2 79544 2.51433E-5 39772 0 4.62043E-5
2-69741774-C-T p.Gln535Gln synonymous AAK1 4 79548 5.02841E-5 39774 0 3.1837E-5
2-69741779-G-C p.Gln534Glu missense AAK1 1 79570 1.25676E-5 39785 0 3.69546E-5
2-69741786-G-A p.Phe531Phe synonymous AAK1 1 79596 1.25634E-5 39798 0 4.08553E-6
2-69741795-C-T p.Met528Ile missense AAK1 1 79632 1.25578E-5 39816 0 9.10117E-6
2-69741797-T-C p.Met528Val missense AAK1 1 79632 1.25578E-5 39816 0 3.18431E-5
2-69741801-C-T p.Gln526Gln synonymous AAK1 11400 79360 0.143649 39680 885 0.151875
2-69741813-G-T p.Gly522Gly synonymous AAK1 1 79668 1.25521E-5 39834 0 1.72801E-5
2-69741819-T-C p.Gln520Gln synonymous AAK1 2 79692 2.50966E-5 39846 0 NA
2-69741820-T-C p.Gln520Arg missense AAK1 1 79696 1.25477E-5 39848 0 3.18512E-5
2-69741854-T-G p.Lys509Gln missense AAK1 73040 73042 0.999973 36521 36520 1.0
2-69741861-T-C p.Ala506Ala synonymous AAK1 1 79722 1.25436E-5 39861 0 4.20218E-6
2-69741868-T-G p.His504Pro missense AAK1 2 79706 2.50922E-5 39853 0 7.25987E-5
2-69741881-A-ACTG c.1498-1_1498insCAG splice_acceptor AAK1 6 79658 7.5322E-5 39829 3 NA
2-69746093-G-A p.Thr497Ile missense AAK1 1 80816 1.23738E-5 40408 0 NA
2-69746102-T-G p.Gln494Pro missense AAK1 2 80884 2.47268E-5 40442 0 1.94127E-5
2-69746119-C-T p.Thr488Thr synonymous AAK1 1 81132 1.23256E-5 40566 0 4.99102E-5
2-69746121-T-A p.Thr488Ser missense AAK1 2 81172 2.4639E-5 40586 0 NA
2-69746128-C-T p.Pro485Pro synonymous AAK1 4 81202 4.92599E-5 40601 0 3.18471E-5
2-69746129-G-A p.Pro485Leu missense AAK1 6 81240 7.38552E-5 40620 0 4.70677E-5
2-69746132-T-G p.Gln484Pro missense AAK1 1 81300 1.23001E-5 40650 0 NA
2-69746135-TGCTGTGCTGGCGGTG-T p.Pro478_Gln482del disruptive_inframe_deletion AAK1 1 81330 1.22956E-5 40665 0 3.18492E-5
2-69746141-G-A p.Ala481Val missense AAK1 1 81362 1.22908E-5 40681 0 6.37763E-6
2-69746142-C-G p.Ala481Pro missense AAK1 1570 81312 0.0193083 40656 73 0.0467346
2-69746148-G-A p.Pro479Ser missense AAK1 1 81448 1.22778E-5 40724 0 6.36894E-6
2-69746176-G-C p.Leu469Leu synonymous AAK1 2 81670 2.44888E-5 40835 0 1.2733E-5
2-69746192-T-C p.Gln464Arg missense AAK1 1 81876 1.22136E-5 40938 0 3.18593E-5
2-69746218-A-G p.Ala455Ala synonymous AAK1 1 82162 1.21711E-5 41081 0 6.34228E-6
2-69746220-C-T p.Ala455Thr missense AAK1 2 82162 2.43422E-5 41081 0 4.56038E-5
2-69746220-C-A p.Ala455Ser missense AAK1 1 82162 1.21711E-5 41081 0 6.97562E-5
2-69746221-G-A p.Pro454Pro synonymous AAK1 4 82192 4.86665E-5 41096 0 1.45597E-4
2-69746221-G-C p.Pro454Pro synonymous AAK1 1 82192 1.21666E-5 41096 0 1.26606E-5
2-69746241-T-C p.Thr448Ala missense AAK1 1 82330 1.21462E-5 41165 0 3.18695E-5
2-69746244-A-T p.Ser447Thr missense AAK1 26 82344 3.15749E-4 41172 0 8.285E-4
2-69746246-G-T p.Pro446His missense AAK1 3 82356 3.64272E-5 41178 0 4.38558E-5
2-69746248-C-T p.Thr445Thr synonymous AAK1 3 82348 3.64308E-5 41174 0 4.37216E-5
2-69746249-G-A p.Thr445Met missense AAK1 2 82362 2.4283E-5 41181 0 4.32938E-5
2-69746253-G-T p.Gln444Lys missense AAK1 1 82380 1.21389E-5 41190 0 NA
2-69746255-T-C p.Gln443Arg missense AAK1 1 82388 1.21377E-5 41194 0 NA
2-69746268-G-T p.Pro439Thr missense AAK1 2 82398 2.42724E-5 41199 0 0.00151515
2-69746293-T-C p.Gln430Gln synonymous AAK1 2 82366 2.42819E-5 41183 0 NA
2-69746296-C-T p.Pro429Pro synonymous AAK1 6986 82218 0.0849692 41109 348 0.148757
2-69746296-C-A p.Pro429Pro synonymous AAK1 4 82348 4.85743E-5 41174 0 0.00272665
2-69746297-G-A p.Pro429Leu missense AAK1 1 82366 1.21409E-5 41183 0 0.0015121
2-69746297-G-T p.Pro429Gln missense AAK1 1 82366 1.21409E-5 41183 0 4.97216E-6
2-69746298-G-A p.Pro429Ser missense AAK1 21 82368 2.54953E-4 41184 1 3.83415E-4
2-69746315-G-A p.Pro423Leu missense AAK1 1 82276 1.21542E-5 41138 0 NA
2-69746317-G-A p.Ala422Ala synonymous AAK1 11 82274 1.337E-4 41137 0 0.00135688
2-69746323-G-T p.Pro420Pro synonymous AAK1 39 82230 4.74279E-4 41115 0 0.00252016
2-69746335-G-A p.Pro416Pro synonymous AAK1 2 82218 2.43256E-5 41109 0 5.02816E-5
2-69746339-A-G p.Val415Ala missense AAK1 1 82236 1.21601E-5 41118 0 4.84703E-6
2-69746344-G-T p.Ala413Ala synonymous AAK1 2 82236 2.43202E-5 41118 0 NA
2-69747963-A-T c.1210+3T>A splice_region AAK1 1 82750 1.20846E-5 41375 0 NA
2-69747985-C-A p.Gln397His missense AAK1 1 82822 1.20741E-5 41411 0 3.60913E-5
2-69747985-C-G p.Gln397His missense AAK1 1 82822 1.20741E-5 41411 0 NA
2-69747993-T-C p.Thr395Ala missense AAK1 1 82834 1.20723E-5 41417 0 NA
2-69748004-C-T p.Arg391Gln missense AAK1 3 82842 3.62135E-5 41421 0 5.04541E-4
2-69748015-C-T p.Ala387Ala synonymous AAK1 3 82850 3.621E-5 41425 0 3.18451E-5
2-69748016-G-A p.Ala387Val missense AAK1 2 82844 2.41418E-5 41422 0 3.18431E-5
2-69748045-C-G p.Pro377Pro synonymous AAK1 2 82838 2.41435E-5 41419 0 2.44541E-5
2-69748053-T-A p.Thr375Ser missense AAK1 154 82830 0.00185923 41415 1 0.00105614
2-69748057-C-G p.Gly373Gly synonymous AAK1 4 82840 4.82859E-5 41420 0 1.68079E-5
2-69748068-G-A p.Pro370Ser missense AAK1 1 82816 1.2075E-5 41408 0 NA
2-69748086-T-C p.Ile364Val missense AAK1 2 82792 2.41569E-5 41396 0 3.31741E-5
2-69748103-G-A p.Pro358Leu missense AAK1 1 82770 1.20817E-5 41385 0 NA
2-69748120-T-C p.Arg352Arg splice_region+synonymous AAK1 2 82706 2.4182E-5 41353 0 8.29531E-6
2-69748125-A-T c.1056-5T>A splice_region AAK1 2 82682 2.41891E-5 41341 0 3.61193E-5
2-69752160-C-T c.1055+5G>A splice_region AAK1 1 82454 1.2128E-5 41227 0 4.01236E-6
2-69752169-C-T p.Ala351Thr missense AAK1 1 82500 1.21212E-5 41250 0 3.18492E-5
2-69752174-G-A p.Pro349Leu missense AAK1 2 82510 2.42395E-5 41255 0 NA
2-69752190-C-T p.Ala344Thr missense AAK1 6 82512 7.27167E-5 41256 0 1.65642E-5
2-69752204-G-A p.Ala339Val missense AAK1 3 82516 3.63566E-5 41258 0 3.31274E-5
2-69752209-C-T p.Val337Val synonymous AAK1 1 82512 1.21194E-5 41256 0 NA
2-69752210-A-G p.Val337Ala missense AAK1 1 82510 1.21197E-5 41255 0 NA
2-69752212-T-C p.Pro336Pro synonymous AAK1 1 82502 1.21209E-5 41251 0 1.65634E-5
2-69752213-G-A p.Pro336Leu missense AAK1 1 82502 1.21209E-5 41251 0 NA
2-69752220-G-A p.Pro334Ser missense AAK1 5 82492 6.06119E-5 41246 0 1.57353E-4
2-69752237-G-A p.Pro328Leu missense AAK1 1 82394 1.21368E-5 41197 0 NA
2-69752240-G-A p.Ser327Phe missense AAK1 6 82366 7.28456E-5 41183 0 1.65689E-5
2-69752247-A-G c.976-3T>C splice_region AAK1 1 82254 1.21575E-5 41127 0 NA
2-69752251-A-T c.976-7T>A splice_region AAK1 1 82186 1.21675E-5 41093 0 NA
2-69754344-G-A c.975+4C>T splice_region AAK1 3 81834 3.66596E-5 40917 0 1.15884E-4
2-69754351-T-A p.Val324Val synonymous AAK1 6 81972 7.31957E-5 40986 0 NA
2-69754375-C-A p.Lys316Asn missense AAK1 1 82204 1.21649E-5 41102 0 NA
2-69754383-G-A p.Leu314Leu synonymous AAK1 2 82274 2.4309E-5 41137 0 NA
2-69754393-G-C p.Phe310Leu missense AAK1 1 82318 1.2148E-5 41159 0 1.26295E-5
2-69754443-A-G p.Leu294Leu synonymous AAK1 1 82142 1.2174E-5 41071 0 NA
2-69754446-T-C p.Met293Val missense AAK1 4 82082 4.87318E-5 41041 0 1.47876E-5
2-69754448-T-A p.Tyr292Phe missense AAK1 1 82006 1.21942E-5 41003 0 NA
2-69754451-C-T p.Arg291Lys missense+splice_region AAK1 1 81964 1.22005E-5 40982 0 NA
2-69754457-G-A c.872-6C>T splice_region AAK1 4 81808 4.8895E-5 40904 0 3.18654E-5
2-69757148-C-T p.Cys288Tyr missense AAK1 1 81908 1.22088E-5 40954 0 NA
2-69757153-C-T p.Met286Ile missense AAK1 1 82146 1.21734E-5 41073 0 4.42929E-5
2-69757156-G-A p.Asp285Asp synonymous AAK1 345 82224 0.00419585 41112 7 0.00875629
2-69757161-G-C p.Gln284Glu missense AAK1 1 82266 1.21557E-5 41133 0 NA
2-69757170-G-C p.Arg281Gly missense AAK1 1 82290 1.21521E-5 41145 0 4.3037E-6
2-69757198-A-G p.Asp271Asp synonymous AAK1 1 82460 1.21271E-5 41230 0 3.18329E-5
2-69757228-T-C p.Pro261Pro synonymous AAK1 1 82484 1.21236E-5 41242 0 1.01983E-5
2-69757231-C-T p.Leu260Leu synonymous AAK1 2 82462 2.42536E-5 41231 0 4.08313E-6
2-69757255-C-T p.Leu252Leu synonymous AAK1 2 82370 2.42807E-5 41185 0 NA
2-69757255-C-A p.Leu252Phe missense AAK1 2 82370 2.42807E-5 41185 0 NA
2-69757265-C-G p.Gly249Ala missense AAK1 1 82288 1.21524E-5 41144 0 NA
2-69757274-T-TA c.739-3_739-2insT splice_region AAK1 1 82156 1.2172E-5 41078 0 NA
2-69757749-A-G c.738+8T>C splice_region AAK1 1 81956 1.22017E-5 40978 0 NA
2-69757762-T-C p.Ile245Val missense AAK1 1 82126 1.21764E-5 41063 0 NA
2-69757773-G-A p.Thr241Met missense AAK1 3 82214 3.64901E-5 41107 0 3.1839E-5
2-69757792-T-C p.Ser235Gly missense AAK1 2 82248 2.43167E-5 41124 0 8.29834E-6
2-69757797-A-G p.Leu233Pro missense AAK1 1 82238 1.21598E-5 41119 0 NA
2-69757804-C-T p.Val231Ile missense AAK1 1 82246 1.21586E-5 41123 0 NA
2-69757820-A-G p.Tyr225Tyr synonymous AAK1 1 82176 1.2169E-5 41088 0 8.30537E-6
2-69757823-G-T p.Ser224Ser synonymous AAK1 2 82162 2.43422E-5 41081 0 NA
2-69757829-C-T p.Thr222Thr synonymous AAK1 2 82092 2.43629E-5 41046 0 4.01907E-6
2-69757838-T-TTTCTTAATCTCATCTTCTACTGCATTGACTCC c.657-1_657insGGAGTCAATGCAGTAGAAGATGAGATTAAGAA splice_acceptor AAK1 1 82032 1.21904E-5 41016 0 NA
2-69759197-T-C p.Asn211Ser missense AAK1 2 82744 2.41709E-5 41372 0 3.18451E-5
2-69759204-C-T p.Gly209Arg missense AAK1 1 82756 1.20837E-5 41378 0 NA
2-69759226-T-C p.Lys201Lys synonymous AAK1 1 82744 1.20855E-5 41372 0 NA
2-69759237-C-T p.Ala198Thr missense AAK1 1 82718 1.20893E-5 41359 0 6.25E-4
2-69759238-G-A p.Ser197Ser synonymous AAK1 2 82718 2.41785E-5 41359 0 NA
2-69759253-C-T p.Leu192Leu synonymous AAK1 3 82694 3.62783E-5 41347 0 1.91058E-4
2-69759285-T-C p.Ile182Val missense AAK1 1 82428 1.21318E-5 41214 0 NA
2-69759296-T-TTCAGGTCCCGGTGGATAATAGGAGTTTTGCACTGATGCAGGC c.535-3_535-2insGCCTGCATCAGTGCAAAACTCCTATTATCCACCGGGACCTGA splice_region AAK1 2 82266 2.43114E-5 41133 1 NA
2-69769666-G-A p.Arg175Trp missense AAK1 2 82428 2.42636E-5 41214 0 NA
2-69769673-A-G p.Ile172Ile synonymous AAK1 1 82424 1.21324E-5 41212 0 NA
2-69769675-T-C p.Ile172Val missense AAK1 1 82410 1.21345E-5 41205 0 4.01381E-6
2-69769699-G-A p.Arg164Cys missense AAK1 6 82274 7.2927E-5 41137 0 1.15954E-4
2-69769705-C-T p.Val162Ile missense AAK1 1 82264 1.2156E-5 41132 0 8.03084E-6
2-69769716-G-A p.Thr158Ile missense AAK1 2 82222 2.43244E-5 41111 0 NA
2-69769729-T-C p.Ile154Val missense AAK1 7 82188 8.51706E-5 41094 0 1.59195E-4
2-69769741-C-T p.Glu150Lys missense AAK1 1 82146 1.21734E-5 41073 0 NA
2-69769754-G-A p.Gly145Gly synonymous AAK1 1 82164 1.21708E-5 41082 0 5.03525E-4
2-69769767-C-T p.Arg141His missense AAK1 3 82164 3.65123E-5 41082 0 3.31351E-5
2-69769781-G-A p.Asn136Asn synonymous AAK1 7 82200 8.51581E-5 41100 0 2.23029E-4
2-69769787-C-A p.Val134Val synonymous AAK1 3 82188 3.65017E-5 41094 0 8.03419E-6
2-69769799-T-TCTACAAAAGTCCATCAGAATGAGCACTTCCCATACATCACC c.392-3_392-2insGGTGATGTATGGGAAGTGCTCATTCTGATGGACTTTTGTAG splice_region AAK1 1 82142 1.2174E-5 41071 0 NA
2-69769802-G-T c.392-5C>A splice_region AAK1 5 82128 6.08806E-5 41064 0 2.48946E-5
2-69769802-G-C c.392-5C>G splice_region AAK1 3 82128 3.65283E-5 41064 0 8.43773E-5
2-69769802-G-A c.392-5C>T splice_region AAK1 2 82128 2.43522E-5 41064 0 8.03594E-6
2-69769803-G-C c.392-6C>G splice_region AAK1 1 82124 1.21767E-5 41062 0 2.00894E-5
2-69769805-G-T c.392-8C>A splice_region AAK1 3 82104 3.6539E-5 41052 0 NA
2-69771569-T-C p.Arg130Arg splice_region+synonymous AAK1 1 81990 1.21966E-5 40995 0 NA
2-69771589-T-C p.Ile124Val missense AAK1 2 82228 2.43226E-5 41114 0 4.99451E-5
2-69771610-C-T p.Gly117Ser missense AAK1 12 82328 1.45758E-4 41164 0 1.99375E-4
2-69771611-G-A p.Ser116Ser synonymous AAK1 217 82340 0.00263541 41170 9 0.00426806
2-69771612-C-T p.Ser116Asn missense AAK1 4 82352 4.8572E-5 41176 0 4.01465E-6
2-69771620-G-A p.Asn113Asn synonymous AAK1 10 82330 1.21462E-4 41165 0 8.30358E-6
2-69771621-T-G p.Asn113Thr missense AAK1 8 82348 9.71487E-5 41174 0 2.07583E-4
2-69771644-A-T p.Gly105Gly synonymous AAK1 7 82260 8.5096E-5 41130 0 1.91058E-4
2-69771650-A-G p.Ile103Ile synonymous AAK1 10 82242 1.21592E-4 41121 0 7.63316E-5
2-69771677-C-CATTATCTGGATTTCTCTCTTGCACACCTGGAGATCA c.283-2_283-1insTGATCTCCAGGTGTGCAAGAGAGAAATCCAGATAAT splice_acceptor AAK1 2 81912 2.44164E-5 40956 1 NA
2-69771681-G-C c.283-5C>G splice_region AAK1 1 81824 1.22214E-5 40912 0 3.18431E-5
2-69783997-T-A p.Ile93Leu missense AAK1 1 82150 1.21729E-5 41075 0 NA
2-69784022-G-C p.Leu84Leu synonymous AAK1 1 82396 1.21365E-5 41198 0 2.49742E-5
2-69784049-G-C p.Arg75Arg synonymous AAK1 1 82464 1.21265E-5 41232 0 NA
2-69784050-C-T p.Arg75His missense AAK1 3 82428 3.63954E-5 41214 0 NA
2-69784062-C-T p.Cys71Tyr missense AAK1 1 82388 1.21377E-5 41194 0 NA
2-69784064-T-C p.Lys70Lys synonymous AAK1 4 82392 4.85484E-5 41196 0 3.18471E-5
2-69784068-A-G p.Met69Thr missense AAK1 2 82370 2.42807E-5 41185 0 6.36902E-5
2-69784074-T-C p.Asn67Ser missense AAK1 10 82296 1.21513E-4 41148 0 1.27348E-4
2-69784082-C-T p.Arg64Arg synonymous AAK1 1 82210 1.2164E-5 41105 0 NA
2-69784083-C-T p.Arg64Lys missense AAK1 1 82184 1.21678E-5 41092 0 NA
2-69784097-A-G p.Ile59Ile synonymous AAK1 1 81938 1.22043E-5 40969 0 8.49979E-6
2-69870005-C-T c.163+5G>A splice_region AAK1 1 81720 1.22369E-5 40860 0 2.23058E-4
2-69870006-G-C c.163+4C>G splice_region AAK1 1 81742 1.22336E-5 40871 0 NA
2-69870029-C-T p.Val48Val synonymous AAK1 8 81914 9.76634E-5 40957 1 4.01781E-6
2-69870037-C-A p.Val46Phe missense AAK1 1 81948 1.22029E-5 40974 0 1.20494E-5
2-69870038-C-G p.Gln45His missense AAK1 1 81950 1.22026E-5 40975 0 3.18837E-5
2-69870038-C-T n.577G>A splice_region AAK1 1 81950 1.22026E-5 40975 0 NA
2-69870052-T-C p.Ile41Val missense AAK1 2 81868 2.44296E-5 40934 0 8.35715E-6
2-69870052-T-A p.Ile41Phe missense AAK1 1 81868 1.22148E-5 40934 0 8.35715E-6
2-69870066-C-T p.Gly36Glu missense AAK1 3 81836 3.66587E-5 40918 0 2.01089E-5
2-69870068-G-A p.Ile35Ile synonymous AAK1 2 81814 2.44457E-5 40907 0 6.37227E-5
2-69870079-T-C p.Ser32Gly missense AAK1 1 81772 1.22291E-5 40886 0 NA
2-69870081-C-A p.Gly31Val missense AAK1 5 81780 6.11396E-5 40890 0 4.02573E-6
2-69870087-C-G p.Gly29Ala missense AAK1 7 81702 8.56772E-5 40851 0 9.55597E-5
2-69870090-G-A p.Ser28Leu missense AAK1 9 81666 1.10205E-4 40833 0 1.92083E-4
2-69870092-G-A p.Thr27Thr synonymous AAK1 1 81642 1.22486E-5 40821 0 NA
2-69870118-C-T p.Gly19Ser missense AAK1 1 81626 1.2251E-5 40813 0 1.22982E-5
2-69870119-G-T p.Ser18Ser synonymous AAK1 794 81658 0.00972348 40829 24 0.019384
2-69870132-G-C p.Ser14Cys missense AAK1 3 81662 3.67368E-5 40831 0 1.2421E-5
2-69870134-G-A p.Gly13Gly synonymous AAK1 1 81622 1.22516E-5 40811 0 1.15223E-5
2-69870136-C-A p.Gly13Cys missense AAK1 1 81608 1.22537E-5 40804 0 NA
2-69870145-C-G p.Glu10Gln missense AAK1 1 81668 1.22447E-5 40834 0 NA
2-69870157-C-G p.Asp6His missense AAK1 1 81386 1.22871E-5 40693 0 NA
2-69870181-T-C c.-9A>G 5_prime_UTR_premature_start_codon_gain AAK1 91 80808 0.00112613 40404 1 0.0021988
2-69870205-G-A c.-33C>T 5_prime_UTR_premature_start_codon_gain AAK1 4 79434 5.03563E-5 39717 0 0.0025974
2-69870214-T-C c.-42A>G 5_prime_UTR_premature_start_codon_gain AAK1 3 78176 3.8375E-5 39088 0 1.21455E-4
2-69870217-A-ATTTT n.513_516dupAAAA splice_region AAK1 101 77718 0.00129957 38859 9 0.00238149
2-69870217-ATT-A n.515_516delAA splice_region AAK1 341 77604 0.0043941 38802 0 0.0529453
2-69870217-A-AT n.516dupA splice_region AAK1 5484 72546 0.0755934 36273 439 0.401225
2-69870217-AT-A n.516delA splice_region AAK1 2794 74558 0.0374742 37279 2 0.214221
2-69870217-A-ATTT n.514_516dupAAA splice_region AAK1 300 77596 0.00386618 38798 19 0.0206963
2-69870217-A-ATT n.515_516dupAA splice_region AAK1 1251 76954 0.0162565 38477 57 0.0794702
2-69870217-A-ATTTTT n.512_516dupAAAAA splice_region AAK1 62 77762 7.97305E-4 38881 3 0.00323203
2-69870217-A-ATTTTTTTTTTT n.506_516dupAAAAAAAAAAA splice_region AAK1 3 77768 3.85763E-5 38884 0 NA
2-69870217-A-ATTTTTT n.511_516dupAAAAAA splice_region AAK1 46 77756 5.91594E-4 38878 4 NA
2-69870217-ATTT-A n.514_516delAAA splice_region AAK1 29 77740 3.73038E-4 38870 0 0.00770303
2-69870217-A-ATTTTTTT n.510_516dupAAAAAAA splice_region AAK1 8 77762 1.02878E-4 38881 1 NA
2-69870217-ATTTT-A n.513_516delAAAA splice_region AAK1 4 77764 5.14377E-5 38882 0 NA
2-69870217-ATTTTTTTTTTTT-A n.505_516delAAAAAAAAAAAA splice_region AAK1 2 77768 2.57175E-5 38884 0 NA
2-69870217-ATTTTTT-A n.511_516delAAAAAA splice_region AAK1 6 77768 7.71526E-5 38884 0 NA
2-69870217-A-ATTTTTTTT n.509_516dupAAAAAAAA splice_region AAK1 4 77768 5.1435E-5 38884 1 NA
2-69870217-A-ATTTTTTTTT n.508_516dupAAAAAAAAA splice_region AAK1 1 77766 1.28591E-5 38883 0 NA
2-69870217-ATTTTTTTT-A n.509_516delAAAAAAAA splice_region AAK1 1 77768 1.28588E-5 38884 0 NA
2-69870217-ATTTTT-A n.512_516delAAAAA splice_region AAK1 1 77766 1.28591E-5 38883 0 NA
2-69870217-A-ATTTTTTTTTT n.507_516dupAAAAAAAAAA splice_region AAK1 1 77768 1.28588E-5 38884 0 NA
2-69870217-A-ATTTTTTTTTTTTTTTTTTTT n.497_516dupAAAAAAAAAAAAAAAAAAAA splice_region AAK1 1 77768 1.28588E-5 38884 0 NA
2-69870218-T-TA n.515_516insT splice_region AAK1 2 77782 2.57129E-5 38891 0 NA
2-69870219-T-A n.515A>T splice_region AAK1 1 78122 1.28005E-5 39061 0 0.00309508
2-69870282-G-A c.-110C>T 5_prime_UTR_premature_start_codon_gain AAK1 69 76856 8.97783E-4 38428 0 9.61666E-4
2-69870294-C-T c.-122G>A 5_prime_UTR_premature_start_codon_gain AAK1 1 76850 1.30124E-5 38425 0 NA
2-69870297-G-C c.-125C>G 5_prime_UTR_premature_start_codon_gain AAK1 1 76838 1.30144E-5 38419 0 NA
2-69870334-C-A c.-162G>T 5_prime_UTR_premature_start_codon_gain AAK1 2 76684 2.60811E-5 38342 0 NA
2-69870406-C-T c.-234G>A splice_region AAK1 106 76024 0.0013943 38012 1 0.00295156
2-69870407-C-T c.-234-1G>A splice_acceptor AAK1 1 76040 1.3151E-5 38020 0 NA
2-69870411-G-GA c.-234-6_-234-5insT splice_region AAK1 1 75670 1.32153E-5 37835 0 NA
2-69870766-G-A c.-294C>T 5_prime_UTR_premature_start_codon_gain AAK1 1 47840 2.0903E-5 23920 0 6.42343E-5
2-69870770-C-A c.-298G>T 5_prime_UTR_premature_start_codon_gain AAK1 1 47724 2.09538E-5 23862 0 NA
2-69870799-T-A c.-327A>T 5_prime_UTR_premature_start_codon_gain AAK1 1 48616 2.05694E-5 24308 0 NA
2-69870824-G-A c.-352C>T 5_prime_UTR_premature_start_codon_gain AAK1 4 50082 7.9869E-5 25041 0 1.28733E-4
2-69870876-C-G n.207G>C splice_region AAK1 1 57782 1.73064E-5 28891 0 NA
2-69870916-C-T n.169+8G>A splice_region AAK1 3 64008 4.68691E-5 32004 0 NA