Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-4715217-C-T c.-269C>T 5_prime_UTR_premature_start_codon_gain AJAP1 1 5558 1.79921E-4 2779 0 7.50356E-5
1-4715458-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain AJAP1 30 40636 7.38262E-4 20318 0 0.00625782
1-4715480-G-T c.-6G>T 5_prime_UTR_premature_start_codon_gain AJAP1 1 41314 2.42049E-5 20657 0 NA
1-4715489-T-C p.Trp2Arg missense AJAP1 1 41330 2.41955E-5 20665 0 NA
1-4771952-C-T c.30-8C>T splice_region AJAP1 9 57428 1.56718E-4 28714 0 1.63048E-4
1-4771952-C-G c.30-8C>G splice_region AJAP1 8 57428 1.39305E-4 28714 0 4.89143E-4
1-4771960-C-T p.Ser10Ser splice_region+synonymous AJAP1 1 58650 1.70503E-5 29325 0 NA
1-4771983-G-A p.Gly18Asp missense AJAP1 2 62076 3.22186E-5 31038 0 6.6733E-5
1-4771986-G-A p.Arg19His missense AJAP1 11 62428 1.76203E-4 31214 0 4.47885E-4
1-4771988-C-G p.Pro20Ala missense AJAP1 5 63528 7.87055E-5 31764 0 3.10939E-4
1-4772003-G-C p.Ala25Pro missense AJAP1 1 65192 1.53393E-5 32596 0 NA
1-4772003-G-A p.Ala25Thr missense AJAP1 1 65192 1.53393E-5 32596 0 9.2483E-6
1-4772004-C-T p.Ala25Val missense AJAP1 2 65272 3.0641E-5 32636 0 NA
1-4772009-A-T p.Ile27Leu missense AJAP1 1 65376 1.52961E-5 32688 0 9.88572E-6
1-4772029-G-A p.Gln33Gln synonymous AJAP1 1 64564 1.54885E-5 32282 0 3.19489E-5
1-4772032-C-T p.Leu34Leu synonymous AJAP1 1 64190 1.55788E-5 32095 0 4.72688E-6
1-4772033-G-A p.Ala35Thr missense AJAP1 1 63618 1.57188E-5 31809 0 9.3733E-6
1-4772034-C-T p.Ala35Val missense AJAP1 165 63728 0.00258913 31864 1 0.0103306
1-4772035-C-A p.Ala35Ala synonymous AJAP1 1 63476 1.5754E-5 31738 0 8.875E-6
1-4772036-G-T p.Val36Leu missense AJAP1 3 63512 4.72352E-5 31756 0 2.65694E-5
1-4772042-C-T p.Leu38Leu synonymous AJAP1 2 63148 3.16716E-5 31574 0 1.76407E-5
1-4772047-C-T p.Pro39Pro synonymous AJAP1 2 62998 3.1747E-5 31499 0 3.51451E-5
1-4772047-C-G p.Pro39Pro synonymous AJAP1 2 62998 3.1747E-5 31499 0 NA
1-4772049-C-T p.Ala40Val missense AJAP1 1 62830 1.5916E-5 31415 0 8.79507E-6
1-4772050-C-A p.Ala40Ala synonymous AJAP1 128 62846 0.00203672 31423 2 0.0156446
1-4772053-T-C p.Cys41Cys synonymous AJAP1 24087 60904 0.395491 30452 5304 0.461648
1-4772056-G-A p.Glu42Glu synonymous AJAP1 1 62258 1.60622E-5 31129 0 NA
1-4772060-C-T p.Leu44Leu synonymous AJAP1 21 61682 3.40456E-4 30841 1 0.00111807
1-4772073-C-A p.Pro48Gln missense AJAP1 2 59668 3.35188E-5 29834 0 NA
1-4772074-G-A p.Pro48Pro synonymous AJAP1 1 59656 1.67628E-5 29828 0 1.80541E-5
1-4772093-C-T p.Arg55Trp missense AJAP1 5 56214 8.89458E-5 28107 0 6.37383E-5
1-4772097-CGCCGCCCCG-C p.Pro60_Arg62del disruptive_inframe_deletion AJAP1 1 55216 1.81107E-5 27608 0 9.18729E-6
1-4772097-C-CGCCGCCCCG p.Pro60_Arg62dup disruptive_inframe_insertion AJAP1 4 55216 7.24428E-5 27608 0 9.58834E-5
1-4772101-G-A p.Pro57Pro synonymous AJAP1 2 54432 3.67431E-5 27216 0 1.27918E-4
1-4772109-C-T p.Pro60Leu missense AJAP1 1 53756 1.86026E-5 26878 0 1.44797E-5
1-4772111-C-T p.Pro61Ser missense AJAP1 2 53318 3.75108E-5 26659 0 1.94886E-5
1-4772113-C-T p.Pro61Pro synonymous AJAP1 2 53484 3.73944E-5 26742 0 9.77135E-6
1-4772125-T-G p.Ser65Arg missense AJAP1 1 52072 1.92042E-5 26036 0 NA
1-4772147-C-T p.Arg73Trp missense AJAP1 1 50460 1.98177E-5 25230 0 5.48878E-6
1-4772151-TCC-ACA p.ValPro74AspThr missense AJAP1 1 50156 1.99378E-5 25078 0 NA
1-4772154-C-T p.Pro75Leu missense AJAP1 8 50088 1.59719E-4 25044 0 7.0743E-5
1-4772176-G-A p.Arg82Arg synonymous AJAP1 1 49596 2.01629E-5 24798 0 3.22493E-5
1-4772194-G-T p.Arg88Arg synonymous AJAP1 2 51156 3.90961E-5 25578 0 3.70083E-5
1-4772201-G-A p.Gly91Arg missense AJAP1 2 51826 3.85907E-5 25913 0 1.90317E-5
1-4772220-G-A p.Arg97Gln missense AJAP1 1 54056 1.84993E-5 27028 0 2.32899E-5
1-4772223-C-T p.Ala98Val missense AJAP1 1 54630 1.8305E-5 27315 0 2.10695E-5
1-4772233-C-T p.Ala101Ala synonymous AJAP1 1 56406 1.77286E-5 28203 0 NA
1-4772253-C-G p.Ala108Gly missense AJAP1 1 58774 1.70143E-5 29387 0 NA
1-4772268-C-T p.Pro113Leu missense AJAP1 1 63948 1.56377E-5 31974 0 5.60406E-6
1-4772280-T-C p.Leu117Pro missense AJAP1 1 65904 1.51736E-5 32952 0 NA
1-4772283-C-A p.Ala118Asp missense AJAP1 1 66026 1.51455E-5 33013 0 3.19E-5
1-4772283-C-T p.Ala118Val missense AJAP1 1 66026 1.51455E-5 33013 0 NA
1-4772284-C-A p.Ala118Ala synonymous AJAP1 3 66440 4.51535E-5 33220 0 NA
1-4772291-C-T p.Pro121Ser missense AJAP1 2 67934 2.94403E-5 33967 0 3.18898E-5
1-4772297-G-A p.Ala123Thr missense AJAP1 25 69148 3.61543E-4 34574 0 4.1462E-4
1-4772318-C-T p.Leu130Phe missense AJAP1 1 73486 1.3608E-5 36743 0 3.19101E-5
1-4772323-CTCTTCG-C p.Ser133_Ser134del disruptive_inframe_deletion AJAP1 1 74304 1.34582E-5 37152 0 NA
1-4772326-TTCGTCC-T p.Ser138_Ser139del disruptive_inframe_deletion AJAP1 3 74662 4.01811E-5 37331 0 6.3857E-5
1-4772326-T-TTCGTCC p.Ser138_Ser139dup disruptive_inframe_insertion AJAP1 2 74666 2.6786E-5 37333 0 2.19144E-5
1-4772328-C-T p.Ser133Leu missense AJAP1 3 74756 4.01306E-5 37378 0 2.53794E-5
1-4772332-C-T p.Ser134Ser synonymous AJAP1 1 75320 1.32767E-5 37660 0 NA
1-4772332-C-G p.Ser134Ser synonymous AJAP1 1 75320 1.32767E-5 37660 0 NA
1-4772341-G-A p.Ser137Ser synonymous AJAP1 3 75850 3.95517E-5 37925 0 3.19326E-5
1-4772341-G-T p.Ser137Ser synonymous AJAP1 1 75852 1.31836E-5 37926 0 NA
1-4772347-C-T p.Ser139Ser synonymous AJAP1 11 76312 1.44145E-4 38156 0 9.57977E-5
1-4772348-G-A p.Ala140Thr missense AJAP1 1 76152 1.31316E-5 38076 0 NA
1-4772349-C-T p.Ala140Val missense AJAP1 3 76364 3.92855E-5 38182 0 9.63453E-5
1-4772355-C-T p.Ala142Val missense AJAP1 1 76426 1.30846E-5 38213 0 6.94782E-5
1-4772356-C-T p.Ala142Ala synonymous AJAP1 1 76452 1.30801E-5 38226 0 8.19968E-6
1-4772357-G-A p.Gly143Ser missense AJAP1 1 76362 1.30955E-5 38181 0 8.25587E-6
1-4772368-G-A p.Pro146Pro synonymous AJAP1 2 76566 2.61213E-5 38283 0 NA
1-4772374-G-A p.Gln148Gln synonymous AJAP1 1 76754 1.30286E-5 38377 0 NA
1-4772380-C-G p.Ala150Ala synonymous AJAP1 10 76620 1.30514E-4 38310 0 0.0020284
1-4772388-G-T p.Arg153Met missense AJAP1 1 76552 1.3063E-5 38276 0 4.90773E-5
1-4772390-AG-A p.Gly155fs frameshift AJAP1 1 76384 1.30917E-5 38192 0 NA
1-4772390-A-C p.Arg154Arg synonymous AJAP1 1 76384 1.30917E-5 38192 0 NA
1-4772412-G-A p.Gly161Glu missense AJAP1 1 76628 1.30501E-5 38314 0 4.94609E-5
1-4772416-C-T p.Asp162Asp synonymous AJAP1 21 76370 2.74977E-4 38185 0 0.00153061
1-4772431-C-A p.Phe167Leu missense AJAP1 3 76888 3.90178E-5 38444 0 NA
1-4772432-G-A p.Asp168Asn missense AJAP1 1 76868 1.30093E-5 38434 0 NA
1-4772434-C-T p.Asp168Asp synonymous AJAP1 3 77058 3.89317E-5 38529 0 5.96161E-6
1-4772438-A-C p.Arg170Arg synonymous AJAP1 4 77124 5.18645E-5 38562 0 7.28014E-5
1-4772447-C-T p.Arg173Trp missense AJAP1 4 77228 5.17947E-5 38614 0 6.46194E-4
1-4772455-C-G p.Thr175Thr synonymous AJAP1 1 77562 1.28929E-5 38781 0 NA
1-4772462-A-T p.Thr178Ser missense AJAP1 279 77740 0.00358889 38870 3 0.0079218
1-4772464-T-A p.Thr178Thr synonymous AJAP1 1 77860 1.28436E-5 38930 0 2.05558E-5
1-4772467-G-T p.Glu179Asp missense AJAP1 4 77926 5.13307E-5 38963 0 NA
1-4772482-G-A p.Gly184Gly synonymous AJAP1 1 78258 1.27782E-5 39129 0 4.71387E-5
1-4772490-G-A p.Gly187Glu missense AJAP1 1 78368 1.27603E-5 39184 0 4.30037E-6
1-4772509-G-A p.Glu193Glu synonymous AJAP1 8 78748 1.0159E-4 39374 0 9.5706E-5
1-4772513-A-G p.Asn195Asp missense AJAP1 2 78746 2.53981E-5 39373 0 2.22504E-5
1-4772524-G-A p.Pro198Pro synonymous AJAP1 3 78756 3.80923E-5 39378 0 6.38529E-5
1-4772527-C-A p.Gly199Gly synonymous AJAP1 3 78742 3.80991E-5 39371 0 3.19203E-5
1-4772527-C-T p.Gly199Gly synonymous AJAP1 3 78742 3.80991E-5 39371 0 NA
1-4772533-C-T p.Tyr201Tyr synonymous AJAP1 1 78798 1.26907E-5 39399 0 2.07693E-5
1-4772534-G-A p.Gly202Ser missense AJAP1 1 78752 1.26981E-5 39376 0 2.06832E-5
1-4772535-G-A p.Gly202Asp missense AJAP1 241 78754 0.00306016 39377 3 0.00715573
1-4772539-C-T p.Pro203Pro synonymous AJAP1 1 78878 1.26778E-5 39439 0 1.2357E-5
1-4772556-T-C p.Leu209Pro missense AJAP1 1 79064 1.2648E-5 39532 0 NA
1-4772557-A-G p.Leu209Leu synonymous AJAP1 1 79064 1.2648E-5 39532 0 NA
1-4772564-C-T p.Arg212Trp missense AJAP1 1 79046 1.26509E-5 39523 0 3.18817E-5
1-4772566-G-A p.Arg212Arg synonymous AJAP1 2 79056 2.52985E-5 39528 0 NA
1-4772567-A-G p.Lys213Glu missense AJAP1 15 79068 1.8971E-4 39534 0 0.00302419
1-4772581-C-T p.Ala217Ala synonymous AJAP1 2 78892 2.53511E-5 39446 0 2.87144E-5
1-4772582-GCCA-G p.Thr225del disruptive_inframe_deletion AJAP1 52 75420 6.89472E-4 37710 0 0.026431
1-4772582-G-GCCA p.Thr225dup disruptive_inframe_insertion AJAP1 245 78838 0.00310764 39419 0 0.00373447
1-4772582-G-A p.Ala218Thr missense AJAP1 1 78848 1.26826E-5 39424 0 NA
1-4772582-GCCACCA-G p.Thr224_Thr225del disruptive_inframe_deletion AJAP1 10 78850 1.26823E-4 39425 0 1.07312E-4
1-4772582-GCCACCACCA-G p.Thr223_Thr225del disruptive_inframe_deletion AJAP1 1 78850 1.26823E-5 39425 0 1.60968E-4
1-4772582-G-GCCACCA p.Thr224_Thr225dup disruptive_inframe_insertion AJAP1 1 78850 1.26823E-5 39425 0 9.6581E-5
1-4772585-A-G p.Thr219Ala missense AJAP1 49 78828 6.21607E-4 39414 0 0.00201613
1-4772587-C-T p.Thr219Thr synonymous AJAP1 1 78956 1.26653E-5 39478 0 8.20789E-6
1-4772593-C-T p.Thr221Thr synonymous AJAP1 1 78954 1.26656E-5 39477 0 1.22255E-5
1-4772618-A-G p.Thr230Ala missense AJAP1 2 78792 2.53833E-5 39396 0 4.23937E-5
1-4772619-C-T p.Thr230Met missense AJAP1 2 78816 2.53756E-5 39408 0 1.27445E-4
1-4772626-G-A p.Gln232Gln synonymous AJAP1 2 78752 2.53962E-5 39376 0 8.42588E-6
1-4772635-G-A p.Gly235Gly synonymous AJAP1 1 78590 1.27243E-5 39295 0 1.68155E-5
1-4772635-G-T p.Gly235Gly synonymous AJAP1 1 78590 1.27243E-5 39295 0 8.15707E-6
1-4772642-G-A p.Glu238Lys missense AJAP1 1 78488 1.27408E-5 39244 0 3.36236E-5
1-4772648-T-C p.Leu240Leu synonymous AJAP1 4 78428 5.10022E-5 39214 0 1.68251E-5
1-4772654-C-A p.Pro242Thr missense AJAP1 1 78298 1.27717E-5 39149 0 NA
1-4772658-G-A p.Arg243Gln missense AJAP1 8 78248 1.02239E-4 39124 0 5.07614E-4
1-4772665-G-T p.Arg245Ser missense AJAP1 1 78160 1.27943E-5 39080 0 NA
1-4772668-C-T p.Ile246Ile synonymous AJAP1 1 78116 1.28015E-5 39058 0 NA
1-4772669-C-T p.Pro247Ser missense AJAP1 1 78114 1.28018E-5 39057 0 NA
1-4772686-A-G p.Thr252Thr synonymous AJAP1 1 77848 1.28455E-5 38924 0 NA
1-4772688-C-A p.Thr253Lys missense AJAP1 1 77842 1.28465E-5 38921 0 6.37592E-5
1-4772689-G-A p.Thr253Thr synonymous AJAP1 1 77822 1.28498E-5 38911 0 NA
1-4772693-C-A p.Pro255Thr missense AJAP1 4 77754 5.14443E-5 38877 0 3.66697E-5
1-4772700-C-T p.Thr257Ile missense AJAP1 5 77634 6.44048E-5 38817 0 3.20271E-4
1-4772703-G-C p.Ser258Thr missense AJAP1 1 77564 1.28926E-5 38782 0 1.93512E-5
1-4772716-C-T p.Asn262Asn synonymous AJAP1 803 77450 0.010368 38725 33 0.0232762
1-4772716-C-A p.Asn262Lys missense AJAP1 1 77498 1.29036E-5 38749 0 NA
1-4772717-G-A p.Gly263Arg missense AJAP1 41282 74530 0.553898 37265 12203 0.603909
1-4772718-G-T p.Gly263Val missense AJAP1 1 77470 1.29082E-5 38735 0 NA
1-4772734-C-T p.Pro268Pro synonymous AJAP1 2 77350 2.58565E-5 38675 0 3.66535E-5
1-4772734-C-G p.Pro268Pro synonymous AJAP1 1 77350 1.29282E-5 38675 0 NA
1-4772735-C-T p.Pro269Ser missense AJAP1 1 77310 1.29349E-5 38655 0 NA
1-4772744-C-T p.Leu272Leu synonymous AJAP1 1 77352 1.29279E-5 38676 0 NA
1-4772750-G-T p.Glu274* stop_gained AJAP1 1 77436 1.29139E-5 38718 0 NA
1-4829909-C-T c.830-4C>T splice_region AJAP1 1 80614 1.24048E-5 40307 0 8.23683E-6
1-4829944-C-T p.Thr287Thr synonymous AJAP1 2 80844 2.4739E-5 40422 0 2.47093E-5
1-4829963-A-G p.Ile294Val missense AJAP1 67 80830 8.289E-4 40415 0 7.65987E-4
1-4832333-C-T c.918-7C>T splice_region AJAP1 4 79198 5.05063E-5 39599 0 8.29366E-6
1-4832344-G-A p.Ala308Thr missense AJAP1 1 79290 1.26119E-5 39645 0 NA
1-4832355-G-A p.Gly311Gly synonymous AJAP1 1 79584 1.25653E-5 39792 0 NA
1-4832359-A-T p.Thr313Ser missense AJAP1 1 79672 1.25515E-5 39836 0 2.00141E-5
1-4832363-G-A p.Arg314His missense AJAP1 3 79704 3.76393E-5 39852 0 1.65213E-5
1-4832363-G-C p.Arg314Pro missense AJAP1 2 79704 2.50928E-5 39852 0 3.18695E-5
1-4832366-G-A p.Arg315Gln missense AJAP1 3 79774 3.76062E-5 39887 0 6.39923E-5
1-4832369-A-G p.Asn316Ser missense AJAP1 5 79880 6.25939E-5 39940 0 1.65104E-5
1-4832370-C-T p.Asn316Asn synonymous AJAP1 1 79874 1.25197E-5 39937 0 1.19899E-5
1-4832381-G-A p.Arg320Gln missense AJAP1 15 80180 1.87079E-4 40090 0 3.29979E-5
1-4832404-A-G p.Ser328Gly missense AJAP1 3 80512 3.72615E-5 40256 0 NA
1-4832415-C-T p.Asn331Asn synonymous AJAP1 2 80648 2.47991E-5 40324 0 1.64897E-5
1-4832421-G-A p.Thr333Thr synonymous AJAP1 4 80660 4.95909E-5 40330 0 2.38787E-5
1-4832421-G-C p.Thr333Thr synonymous AJAP1 1 80660 1.23977E-5 40330 0 NA
1-4832432-C-T p.Ser337Leu missense AJAP1 1 80732 1.23867E-5 40366 0 NA
1-4832433-G-A p.Ser337Ser synonymous AJAP1 9 80734 1.11477E-4 40367 0 6.3674E-5
1-4832437-C-T p.Arg339Trp missense AJAP1 2 80778 2.47592E-5 40389 0 8.24429E-6
1-4832438-G-A p.Arg339Gln missense AJAP1 1 80784 1.23787E-5 40392 0 5.03525E-4
1-4832445-C-T p.Pro341Pro synonymous AJAP1 4 80822 4.94915E-5 40411 0 3.58018E-5
1-4832466-G-A p.Thr348Thr synonymous AJAP1 6 80912 7.41546E-5 40456 0 2.38656E-5
1-4832470-T-C p.Tyr350His missense AJAP1 1 80928 1.23567E-5 40464 0 NA
1-4832475-C-T p.Asn351Asn synonymous AJAP1 1 80920 1.23579E-5 40460 0 4.94535E-5
1-4832476-G-A p.Glu352Lys missense AJAP1 1 80918 1.23582E-5 40459 0 3.9776E-6
1-4832482-C-T p.Leu354Leu synonymous AJAP1 21 80934 2.59471E-4 40467 0 8.59818E-4
1-4832486-A-G p.Gln355Arg missense AJAP1 5 80956 6.17619E-5 40478 1 2.78401E-5
1-4832497-G-A p.Glu359Lys missense AJAP1 1 80952 1.2353E-5 40476 0 3.97735E-6
1-4832502-C-T p.Cys360Cys synonymous AJAP1 3 80952 3.7059E-5 40476 0 2.78423E-5
1-4832503-G-A p.Val361Ile missense AJAP1 1 80960 1.23518E-5 40480 0 6.25E-4
1-4832519-C-T p.Pro366Leu missense AJAP1 1 80954 1.23527E-5 40477 0 NA
1-4832520-C-T p.Pro366Pro synonymous AJAP1 6 80954 7.41162E-5 40477 0 1.2734E-4
1-4832521-G-A p.Val367Met missense AJAP1 14 80952 1.72942E-4 40476 0 1.59215E-4
1-4832522-T-G p.Val367Gly missense AJAP1 1 80936 1.23554E-5 40468 0 NA
1-4832529-C-T p.Thr369Thr synonymous AJAP1 2 80942 2.47091E-5 40471 0 1.65101E-5
1-4832532-T-C p.Asp370Asp synonymous AJAP1 7 80940 8.64838E-5 40470 0 9.55231E-5
1-4832538-G-A p.Thr372Thr synonymous AJAP1 1 80918 1.23582E-5 40459 0 3.18451E-5
1-4832539-C-T p.Leu373Leu synonymous AJAP1 1 80922 1.23576E-5 40461 0 NA
1-4832547-G-A p.Ser375Ser synonymous AJAP1 2 80892 2.47243E-5 40446 0 3.97877E-6
1-4832548-A-T p.Thr376Ser missense AJAP1 2 80894 2.47237E-5 40447 0 7.95646E-6
1-4832549-C-T p.Thr376Met missense AJAP1 26 80896 3.214E-4 40448 0 5.73139E-4
1-4832550-G-A p.Thr376Thr synonymous AJAP1 2 80884 2.47268E-5 40442 0 6.25E-4
1-4832552-C-T p.Thr377Met missense AJAP1 10 80884 1.23634E-4 40442 0 2.22944E-4
1-4832553-G-A p.Thr377Thr synonymous AJAP1 3 80882 3.70911E-5 40441 0 5.79451E-5
1-4832569-A-C p.Thr383Pro missense AJAP1 9 80766 1.11433E-4 40383 0 2.22958E-4
1-4832576-A-G p.Asn385Ser missense AJAP1 2 80626 2.48059E-5 40313 0 2.3897E-5
1-4832585-G-A p.Arg388Gln missense+splice_region AJAP1 2 80284 2.49116E-5 40142 0 NA
1-4832593-C-T c.1163+8C>T splice_region AJAP1 333 80016 0.00416167 40008 3 0.00687898
1-4834483-G-A c.1164-4G>A splice_region AJAP1 4 80960 4.94071E-5 40480 0 3.18573E-5
1-4834491-T-G p.Ser390Ala missense AJAP1 2 80994 2.46932E-5 40497 0 8.2371E-6
1-4834492-C-CCT p.Ser392fs frameshift AJAP1 1 80996 1.23463E-5 40498 0 NA
1-4834505-G-T p.Arg394Arg synonymous AJAP1 2 81038 2.46798E-5 40519 0 NA
1-4834507-A-G p.His395Arg missense AJAP1 6 81030 7.40466E-5 40515 0 1.64737E-5
1-4834519-T-C p.Val399Ala missense AJAP1 5 81034 6.17025E-5 40517 0 4.77152E-5
1-4834540-G-C p.Trp406Ser missense AJAP1 1 81008 1.23445E-5 40504 0 NA
1-4834617-C-T c.*58C>T splice_region AJAP1 3 79834 3.7578E-5 39917 0 6.37349E-5
1-4834618-G-A c.*59G>A splice_region AJAP1 1 79754 1.25386E-5 39877 0 NA
1-4834618-G-C c.*59G>C splice_region AJAP1 1 79754 1.25386E-5 39877 0 NA
1-4834625-A-G c.*59+7A>G splice_region AJAP1 2 79280 2.5227E-5 39640 0 NA
1-4842598-CA-C c.*60-6delA splice_region AJAP1 12 2824 0.00424929 1412 0 0.00239006