Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-4715458-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain AJAP1 32 42278 7.56895E-4 21139 0 0.00625782
1-4715480-G-T c.-6G>T 5_prime_UTR_premature_start_codon_gain AJAP1 1 43028 2.32407E-5 21514 0 NA
1-4715489-T-C p.Trp2Arg missense AJAP1 1 43086 2.32094E-5 21543 0 NA
1-4771952-C-T c.30-8C>T splice_region AJAP1 9 59464 1.51352E-4 29732 0 1.63048E-4
1-4771952-C-G c.30-8C>G splice_region AJAP1 9 59464 1.51352E-4 29732 0 4.89143E-4
1-4771960-C-T p.Ser10Ser splice_region+synonymous AJAP1 1 60720 1.6469E-5 30360 0 NA
1-4771983-G-A p.Gly18Asp missense AJAP1 2 64214 3.11459E-5 32107 0 6.6733E-5
1-4771986-G-A p.Arg19His missense AJAP1 11 64572 1.70352E-4 32286 0 4.47885E-4
1-4771988-C-G p.Pro20Ala missense AJAP1 5 65688 7.61174E-5 32844 0 3.10939E-4
1-4772003-G-C p.Ala25Pro missense AJAP1 1 67360 1.48456E-5 33680 0 NA
1-4772003-G-A p.Ala25Thr missense AJAP1 1 67360 1.48456E-5 33680 0 9.2483E-6
1-4772004-C-T p.Ala25Val missense AJAP1 2 67440 2.9656E-5 33720 0 NA
1-4772009-A-T p.Ile27Leu missense AJAP1 1 67540 1.4806E-5 33770 0 9.88572E-6
1-4772029-G-A p.Gln33Gln synonymous AJAP1 1 66728 1.49862E-5 33364 0 3.19489E-5
1-4772032-C-T p.Leu34Leu synonymous AJAP1 1 66354 1.50707E-5 33177 0 4.72688E-6
1-4772033-G-A p.Ala35Thr missense AJAP1 1 65772 1.5204E-5 32886 0 9.3733E-6
1-4772034-C-T p.Ala35Val missense AJAP1 205 65886 0.00311143 32943 2 0.0103306
1-4772035-C-A p.Ala35Ala synonymous AJAP1 1 65620 1.52393E-5 32810 0 8.875E-6
1-4772036-G-T p.Val36Leu missense AJAP1 3 65662 4.56885E-5 32831 0 2.65694E-5
1-4772042-C-T p.Leu38Leu synonymous AJAP1 2 65304 3.0626E-5 32652 0 1.76407E-5
1-4772047-C-T p.Pro39Pro synonymous AJAP1 2 65164 3.06918E-5 32582 0 3.51451E-5
1-4772047-C-G p.Pro39Pro synonymous AJAP1 2 65164 3.06918E-5 32582 0 NA
1-4772048-GC-AT p.Ala40Ile missense AJAP1 2 64700 3.09119E-5 32350 0 NA
1-4772049-C-T p.Ala40Val missense AJAP1 1 64994 1.5386E-5 32497 0 8.79507E-6
1-4772050-C-A p.Ala40Ala synonymous AJAP1 147 65010 0.00226119 32505 2 0.0156446
1-4772053-T-C p.Cys41Cys synonymous AJAP1 24973 63040 0.396145 31520 5499 0.461648
1-4772056-G-A p.Glu42Glu synonymous AJAP1 1 64418 1.55236E-5 32209 0 NA
1-4772060-C-T p.Leu44Leu synonymous AJAP1 21 63840 3.28947E-4 31920 1 0.00111807
1-4772073-C-A p.Pro48Gln missense AJAP1 2 61782 3.23719E-5 30891 0 NA
1-4772093-C-T p.Arg55Trp missense AJAP1 7 58284 1.20102E-4 29142 0 6.37383E-5
1-4772097-CGCCGCCCCG-C p.Pro60_Arg62del disruptive_inframe_deletion AJAP1 1 57280 1.74581E-5 28640 0 9.18729E-6
1-4772097-C-CGCCGCCCCG p.Pro60_Arg62dup disruptive_inframe_insertion AJAP1 4 57280 6.98324E-5 28640 0 9.58834E-5
1-4772101-G-A p.Pro57Pro synonymous AJAP1 2 56508 3.53932E-5 28254 0 1.27918E-4
1-4772109-C-T p.Pro60Leu missense AJAP1 1 55828 1.79122E-5 27914 0 1.44797E-5
1-4772111-C-T p.Pro61Ser missense AJAP1 2 55376 3.61167E-5 27688 0 1.94886E-5
1-4772113-C-T p.Pro61Pro synonymous AJAP1 2 55544 3.60075E-5 27772 0 9.77135E-6
1-4772125-T-G p.Ser65Arg missense AJAP1 1 54130 1.8474E-5 27065 0 NA
1-4772147-C-T p.Arg73Trp missense AJAP1 1 52468 1.90592E-5 26234 0 5.48878E-6
1-4772151-TCC-ACA p.ValPro74AspThr missense AJAP1 1 52150 1.91755E-5 26075 0 NA
1-4772154-C-T p.Pro75Leu missense AJAP1 8 52084 1.53598E-4 26042 0 7.0743E-5
1-4772161-G-T p.Pro77Pro synonymous AJAP1 5 51742 9.66333E-5 25871 1 NA
1-4772176-G-A p.Arg82Arg synonymous AJAP1 1 51556 1.93964E-5 25778 0 3.22493E-5
1-4772194-G-T p.Arg88Arg synonymous AJAP1 2 53054 3.76974E-5 26527 0 3.70083E-5
1-4772201-G-A p.Gly91Arg missense AJAP1 2 53698 3.72453E-5 26849 0 1.90317E-5
1-4772220-G-A p.Arg97Gln missense AJAP1 1 55892 1.78916E-5 27946 0 2.32899E-5
1-4772223-C-T p.Ala98Val missense AJAP1 1 56464 1.77104E-5 28232 0 2.10695E-5
1-4772233-C-T p.Ala101Ala synonymous AJAP1 1 58232 1.71727E-5 29116 0 NA
1-4772253-C-G p.Ala108Gly missense AJAP1 1 60584 1.6506E-5 30292 0 NA
1-4772268-C-T p.Pro113Leu missense AJAP1 1 65780 1.52022E-5 32890 0 5.60406E-6
1-4772280-T-C p.Leu117Pro missense AJAP1 1 67730 1.47645E-5 33865 0 NA
1-4772283-C-A p.Ala118Asp missense AJAP1 1 67854 1.47375E-5 33927 0 3.19E-5
1-4772283-C-T p.Ala118Val missense AJAP1 1 67854 1.47375E-5 33927 0 NA
1-4772284-C-A p.Ala118Ala synonymous AJAP1 3 68270 4.39432E-5 34135 0 NA
1-4772291-C-T p.Pro121Ser missense AJAP1 2 69770 2.86656E-5 34885 0 3.18898E-5
1-4772297-G-A p.Ala123Thr missense AJAP1 25 70986 3.52182E-4 35493 0 4.1462E-4
1-4772318-C-T p.Leu130Phe missense AJAP1 1 75384 1.32654E-5 37692 0 3.19101E-5
1-4772323-CTCTTCG-C p.Ser133_Ser134del disruptive_inframe_deletion AJAP1 1 76234 1.31175E-5 38117 0 NA
1-4772326-TTCGTCC-T p.Ser138_Ser139del disruptive_inframe_deletion AJAP1 3 76588 3.91706E-5 38294 0 6.3857E-5
1-4772326-T-TTCGTCC p.Ser138_Ser139dup disruptive_inframe_insertion AJAP1 2 76592 2.61124E-5 38296 0 2.19144E-5
1-4772328-C-T p.Ser133Leu missense AJAP1 3 76692 3.91175E-5 38346 0 2.53794E-5
1-4772332-C-T p.Ser134Ser synonymous AJAP1 1 77266 1.29423E-5 38633 0 NA
1-4772332-C-G p.Ser134Ser synonymous AJAP1 1 77266 1.29423E-5 38633 0 NA
1-4772341-G-A p.Ser137Ser synonymous AJAP1 3 77810 3.85555E-5 38905 0 3.19326E-5
1-4772341-G-T p.Ser137Ser synonymous AJAP1 1 77812 1.28515E-5 38906 0 NA
1-4772347-C-T p.Ser139Ser synonymous AJAP1 13 78276 1.66079E-4 39138 0 9.57977E-5
1-4772348-G-A p.Ala140Thr missense AJAP1 1 78118 1.28011E-5 39059 0 NA
1-4772349-C-T p.Ala140Val missense AJAP1 3 78324 3.83024E-5 39162 0 9.63453E-5
1-4772355-C-T p.Ala142Val missense AJAP1 1 78402 1.27548E-5 39201 0 6.94782E-5
1-4772356-C-T p.Ala142Ala synonymous AJAP1 1 78432 1.27499E-5 39216 0 8.19968E-6
1-4772357-G-A p.Gly143Ser missense AJAP1 1 78348 1.27636E-5 39174 0 8.25587E-6
1-4772368-G-A p.Pro146Pro synonymous AJAP1 2 78574 2.54537E-5 39287 0 NA
1-4772374-G-A p.Gln148Gln synonymous AJAP1 1 78774 1.26945E-5 39387 0 NA
1-4772380-C-G p.Ala150Ala synonymous AJAP1 10 78646 1.27152E-4 39323 0 0.0020284
1-4772388-G-T p.Arg153Met missense AJAP1 1 78578 1.27262E-5 39289 0 4.90773E-5
1-4772390-AG-A p.Gly155fs frameshift AJAP1 1 78414 1.27528E-5 39207 0 NA
1-4772390-A-C p.Arg154Arg synonymous AJAP1 1 78414 1.27528E-5 39207 0 NA
1-4772412-G-A p.Gly161Glu missense AJAP1 1 78712 1.27045E-5 39356 0 4.94609E-5
1-4772416-C-T p.Asp162Asp synonymous AJAP1 20 78448 2.54946E-4 39224 0 0.00153061
1-4772431-C-A p.Phe167Leu missense AJAP1 3 79012 3.79689E-5 39506 0 NA
1-4772432-G-A p.Asp168Asn missense AJAP1 1 78996 1.26589E-5 39498 0 NA
1-4772434-C-T p.Asp168Asp synonymous AJAP1 3 79208 3.7875E-5 39604 0 5.96161E-6
1-4772438-A-C p.Arg170Arg synonymous AJAP1 4 79284 5.04515E-5 39642 0 7.28014E-5
1-4772447-C-T p.Arg173Trp missense AJAP1 5 79394 6.29771E-5 39697 0 6.46194E-4
1-4772455-C-G p.Thr175Thr synonymous AJAP1 1 79752 1.25389E-5 39876 0 NA
1-4772462-A-T p.Thr178Ser missense AJAP1 285 79948 0.00356482 39974 3 0.0079218
1-4772464-T-A p.Thr178Thr synonymous AJAP1 1 80072 1.24888E-5 40036 0 2.05558E-5
1-4772467-G-T p.Glu179Asp missense AJAP1 4 80140 4.99127E-5 40070 0 NA
1-4772482-G-A p.Gly184Gly synonymous AJAP1 1 80488 1.24242E-5 40244 0 4.71387E-5
1-4772490-G-A p.Gly187Glu missense AJAP1 1 80608 1.24057E-5 40304 0 4.30037E-6
1-4772509-G-A p.Glu193Glu synonymous AJAP1 8 81008 9.87557E-5 40504 0 9.5706E-5
1-4772513-A-G p.Asn195Asp missense AJAP1 2 81010 2.46883E-5 40505 0 2.22504E-5
1-4772524-G-A p.Pro198Pro synonymous AJAP1 3 81024 3.70261E-5 40512 0 6.38529E-5
1-4772527-C-A p.Gly199Gly synonymous AJAP1 3 81016 3.70297E-5 40508 0 3.19203E-5
1-4772527-C-T p.Gly199Gly synonymous AJAP1 3 81016 3.70297E-5 40508 0 NA
1-4772533-C-T p.Tyr201Tyr synonymous AJAP1 1 81072 1.23347E-5 40536 0 2.07693E-5
1-4772534-G-A p.Gly202Ser missense AJAP1 1 81028 1.23414E-5 40514 0 2.06832E-5
1-4772535-G-A p.Gly202Asp missense AJAP1 250 81024 0.00308551 40512 3 0.00715573
1-4772539-C-T p.Pro203Pro synonymous AJAP1 1 81152 1.23226E-5 40576 0 1.2357E-5
1-4772556-T-C p.Leu209Pro missense AJAP1 1 81328 1.22959E-5 40664 0 NA
1-4772557-A-G p.Leu209Leu synonymous AJAP1 1 81328 1.22959E-5 40664 0 NA
1-4772564-C-T p.Arg212Trp missense AJAP1 1 81308 1.22989E-5 40654 0 3.18817E-5
1-4772566-G-A p.Arg212Arg synonymous AJAP1 2 81322 2.45936E-5 40661 0 NA
1-4772567-A-G p.Lys213Glu missense AJAP1 20 81332 2.45906E-4 40666 0 0.00302419
1-4772581-C-T p.Ala217Ala synonymous AJAP1 2 81126 2.4653E-5 40563 0 2.87144E-5
1-4772582-GCCA-G p.Thr225del disruptive_inframe_deletion AJAP1 54 77580 6.96056E-4 38790 0 0.026431
1-4772582-G-GCCA p.Thr225dup disruptive_inframe_insertion AJAP1 244 81074 0.0030096 40537 0 0.00373447
1-4772582-G-A p.Ala218Thr missense AJAP1 1 81084 1.23329E-5 40542 0 NA
1-4772582-GCCACCA-G p.Thr224_Thr225del disruptive_inframe_deletion AJAP1 10 81086 1.23326E-4 40543 0 1.07312E-4
1-4772582-GCCACCACCA-G p.Thr223_Thr225del disruptive_inframe_deletion AJAP1 4 81086 4.93303E-5 40543 0 1.60968E-4
1-4772582-G-GCCACCA p.Thr224_Thr225dup disruptive_inframe_insertion AJAP1 1 81086 1.23326E-5 40543 0 9.6581E-5
1-4772585-A-G p.Thr219Ala missense AJAP1 50 81062 6.16812E-4 40531 0 0.00201613
1-4772587-C-T p.Thr219Thr synonymous AJAP1 1 81188 1.23171E-5 40594 0 8.20789E-6
1-4772593-C-T p.Thr221Thr synonymous AJAP1 1 81184 1.23177E-5 40592 0 1.22255E-5
1-4772618-A-G p.Thr230Ala missense AJAP1 2 81020 2.46853E-5 40510 0 4.23937E-5
1-4772619-C-T p.Thr230Met missense AJAP1 1 81044 1.2339E-5 40522 0 1.27445E-4
1-4772626-G-A p.Gln232Gln synonymous AJAP1 2 80982 2.46968E-5 40491 0 8.42588E-6
1-4772635-G-A p.Gly235Gly synonymous AJAP1 1 80808 1.2375E-5 40404 0 1.68155E-5
1-4772635-G-T p.Gly235Gly synonymous AJAP1 1 80808 1.2375E-5 40404 0 8.15707E-6
1-4772642-G-A p.Glu238Lys missense AJAP1 1 80710 1.239E-5 40355 0 3.36236E-5
1-4772648-T-C p.Leu240Leu synonymous AJAP1 4 80656 4.95933E-5 40328 0 1.68251E-5
1-4772654-C-A p.Pro242Thr missense AJAP1 1 80522 1.2419E-5 40261 0 NA
1-4772658-G-A p.Arg243Gln missense AJAP1 8 80478 9.9406E-5 40239 0 5.07614E-4
1-4772665-G-T p.Arg245Ser missense AJAP1 1 80398 1.24381E-5 40199 0 NA
1-4772668-C-T p.Ile246Ile synonymous AJAP1 1 80360 1.2444E-5 40180 0 NA
1-4772669-C-T p.Pro247Ser missense AJAP1 1 80356 1.24446E-5 40178 0 NA
1-4772686-A-G p.Thr252Thr synonymous AJAP1 1 80100 1.24844E-5 40050 0 NA
1-4772688-C-A p.Thr253Lys missense AJAP1 1 80094 1.24853E-5 40047 0 6.37592E-5
1-4772689-G-A p.Thr253Thr synonymous AJAP1 1 80072 1.24888E-5 40036 0 NA
1-4772693-C-A p.Pro255Thr missense AJAP1 4 80006 4.99963E-5 40003 0 3.66697E-5
1-4772700-C-T p.Thr257Ile missense AJAP1 7 79884 8.76271E-5 39942 0 3.20271E-4
1-4772703-G-C p.Ser258Thr missense AJAP1 1 79814 1.25291E-5 39907 0 1.93512E-5
1-4772716-C-T p.Asn262Asn synonymous AJAP1 852 79692 0.0106912 39846 34 0.0232762
1-4772716-C-A p.Asn262Lys missense AJAP1 1 79742 1.25404E-5 39871 0 NA
1-4772717-G-A p.Gly263Arg missense AJAP1 42500 76728 0.553905 38364 12560 0.603909
1-4772718-G-T p.Gly263Val missense AJAP1 1 79704 1.25464E-5 39852 0 NA
1-4772734-C-T p.Pro268Pro synonymous AJAP1 2 79560 2.51383E-5 39780 0 3.66535E-5
1-4772734-C-G p.Pro268Pro synonymous AJAP1 1 79560 1.25691E-5 39780 0 NA
1-4772735-C-T p.Pro269Ser missense AJAP1 1 79520 1.25755E-5 39760 0 NA
1-4772744-C-T p.Leu272Leu synonymous AJAP1 1 79542 1.2572E-5 39771 0 NA
1-4772750-G-T p.Glu274* stop_gained AJAP1 1 79614 1.25606E-5 39807 0 NA
1-4829909-C-T c.830-4C>T splice_region AJAP1 1 82856 1.20691E-5 41428 0 8.23683E-6
1-4829944-C-T p.Thr287Thr synonymous AJAP1 2 83122 2.4061E-5 41561 0 2.47093E-5
1-4829945-G-A p.Val288Ile missense AJAP1 2 83112 2.40639E-5 41556 0 8.23642E-6
1-4829963-A-G p.Ile294Val missense AJAP1 66 83110 7.94128E-4 41555 0 7.65987E-4
1-4832333-C-T c.918-7C>T splice_region AJAP1 4 81484 4.90894E-5 40742 0 8.29366E-6
1-4832344-G-A p.Ala308Thr missense AJAP1 1 81576 1.22585E-5 40788 0 NA
1-4832355-G-A p.Gly311Gly synonymous AJAP1 1 81876 1.22136E-5 40938 0 NA
1-4832359-A-T p.Thr313Ser missense AJAP1 1 81964 1.22005E-5 40982 0 2.00141E-5
1-4832363-G-A p.Arg314His missense AJAP1 3 81996 3.65871E-5 40998 0 1.65213E-5
1-4832363-G-C p.Arg314Pro missense AJAP1 2 81996 2.43914E-5 40998 0 3.18695E-5
1-4832366-G-A p.Arg315Gln missense AJAP1 3 82066 3.65559E-5 41033 0 6.39923E-5
1-4832369-A-G p.Asn316Ser missense AJAP1 5 82172 6.0848E-5 41086 0 1.65104E-5
1-4832370-C-T p.Asn316Asn synonymous AJAP1 1 82166 1.21705E-5 41083 0 1.19899E-5
1-4832381-G-A p.Arg320Gln missense AJAP1 15 82470 1.81884E-4 41235 0 3.29979E-5
1-4832392-C-G p.Gln324Glu missense AJAP1 1 82686 1.20939E-5 41343 0 NA
1-4832404-A-G p.Ser328Gly missense AJAP1 3 82790 3.62363E-5 41395 0 NA
1-4832415-C-T p.Asn331Asn synonymous AJAP1 2 82926 2.41179E-5 41463 0 1.64897E-5
1-4832421-G-A p.Thr333Thr synonymous AJAP1 4 82944 4.82253E-5 41472 0 2.38787E-5
1-4832421-G-C p.Thr333Thr synonymous AJAP1 1 82944 1.20563E-5 41472 0 NA
1-4832432-C-T p.Ser337Leu missense AJAP1 1 83012 1.20465E-5 41506 0 NA
1-4832433-G-A p.Ser337Ser synonymous AJAP1 9 83018 1.0841E-4 41509 0 6.3674E-5
1-4832437-C-T p.Arg339Trp missense AJAP1 3 83060 3.61185E-5 41530 0 8.24429E-6
1-4832438-G-A p.Arg339Gln missense AJAP1 1 83066 1.20386E-5 41533 0 5.03525E-4
1-4832445-C-T p.Pro341Pro synonymous AJAP1 4 83106 4.81313E-5 41553 0 3.58018E-5
1-4832466-G-A p.Thr348Thr synonymous AJAP1 6 83202 7.21137E-5 41601 0 2.38656E-5
1-4832470-T-C p.Tyr350His missense AJAP1 1 83220 1.20163E-5 41610 0 NA
1-4832475-C-T p.Asn351Asn synonymous AJAP1 1 83212 1.20175E-5 41606 0 4.94535E-5
1-4832476-G-A p.Glu352Lys missense AJAP1 1 83210 1.20178E-5 41605 0 3.9776E-6
1-4832482-C-T p.Leu354Leu synonymous AJAP1 21 83224 2.52331E-4 41612 0 8.59818E-4
1-4832486-A-G p.Gln355Arg missense AJAP1 5 83242 6.00658E-5 41621 1 2.78401E-5
1-4832497-G-A p.Glu359Lys missense AJAP1 1 83236 1.2014E-5 41618 0 3.97735E-6
1-4832502-C-T p.Cys360Cys synonymous AJAP1 3 83230 3.60447E-5 41615 0 2.78423E-5
1-4832503-G-A p.Val361Ile missense AJAP1 1 83236 1.2014E-5 41618 0 6.25E-4
1-4832519-C-T p.Pro366Leu missense AJAP1 1 83242 1.20132E-5 41621 0 NA
1-4832520-C-T p.Pro366Pro synonymous AJAP1 6 83240 7.20807E-5 41620 0 1.2734E-4
1-4832521-G-A p.Val367Met missense AJAP1 13 83238 1.56179E-4 41619 0 1.59215E-4
1-4832522-T-G p.Val367Gly missense AJAP1 1 83222 1.20161E-5 41611 0 NA
1-4832529-C-T p.Thr369Thr synonymous AJAP1 2 83226 2.4031E-5 41613 0 1.65101E-5
1-4832532-T-C p.Asp370Asp synonymous AJAP1 5 83222 6.00803E-5 41611 0 9.55231E-5
1-4832538-G-A p.Thr372Thr synonymous AJAP1 1 83198 1.20195E-5 41599 0 3.18451E-5
1-4832539-C-T p.Leu373Leu synonymous AJAP1 1 83204 1.20187E-5 41602 0 NA
1-4832547-G-A p.Ser375Ser synonymous AJAP1 2 83162 2.40494E-5 41581 0 3.97877E-6
1-4832548-A-T p.Thr376Ser missense AJAP1 2 83166 2.40483E-5 41583 0 7.95646E-6
1-4832549-C-T p.Thr376Met missense AJAP1 26 83168 3.1262E-4 41584 0 5.73139E-4
1-4832550-G-A p.Thr376Thr synonymous AJAP1 2 83156 2.40512E-5 41578 0 6.25E-4
1-4832552-C-T p.Thr377Met missense AJAP1 8 83152 9.62094E-5 41576 0 2.22944E-4
1-4832553-G-A p.Thr377Thr synonymous AJAP1 3 83150 3.60794E-5 41575 0 5.79451E-5
1-4832569-A-C p.Thr383Pro missense AJAP1 9 83016 1.08413E-4 41508 0 2.22958E-4
1-4832576-A-G p.Asn385Ser missense AJAP1 2 82864 2.41359E-5 41432 0 2.3897E-5
1-4832585-G-A p.Arg388Gln missense+splice_region AJAP1 2 82504 2.42412E-5 41252 0 NA
1-4832593-C-T c.1163+8C>T splice_region AJAP1 355 82216 0.00431789 41108 3 0.00687898
1-4834483-G-A c.1164-4G>A splice_region AJAP1 4 83256 4.80446E-5 41628 0 3.18573E-5
1-4834491-T-G p.Ser390Ala missense AJAP1 2 83298 2.40102E-5 41649 0 8.2371E-6
1-4834492-C-CCT p.Ser392fs frameshift AJAP1 1 83302 1.20045E-5 41651 0 NA
1-4834505-G-T p.Arg394Arg synonymous AJAP1 2 83348 2.39958E-5 41674 0 NA
1-4834507-A-G p.His395Arg missense AJAP1 6 83336 7.19977E-5 41668 0 1.64737E-5
1-4834519-T-C p.Val399Ala missense AJAP1 5 83340 5.99952E-5 41670 0 4.77152E-5
1-4834530-T-G p.Ser403Ala missense AJAP1 1 83336 1.19996E-5 41668 0 NA
1-4834540-G-C p.Trp406Ser missense AJAP1 1 83314 1.20028E-5 41657 0 NA
1-4834617-C-T c.*58C>T splice_region AJAP1 3 81946 3.66095E-5 40973 0 6.37349E-5
1-4834618-G-A c.*59G>A splice_region AJAP1 1 81858 1.22163E-5 40929 0 NA
1-4834618-G-C c.*59G>C splice_region AJAP1 1 81858 1.22163E-5 40929 0 NA
1-4834625-A-G c.*59+7A>G splice_region AJAP1 2 81336 2.45894E-5 40668 0 NA
1-4842598-CA-C c.*60-6delA splice_region AJAP1 12 2822 0.0042523 1411 0 0.00239006