Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-116822521-A-G p.Ter353Argext*? stop_lost AMBP 1 82404 1.21353E-5 41202 0 NA
9-116822532-C-T p.Arg349His missense AMBP 1 82080 1.21832E-5 41040 0 1.2023E-5
9-116822533-G-A p.Arg349Cys missense AMBP 1 82008 1.21939E-5 41004 0 8.30234E-6
9-116822539-GCTC-G p.Glu346del conservative_inframe_deletion AMBP 1 81692 1.22411E-5 40846 0 3.1841E-5
9-116822556-G-GACAC c.1028-7_1028-6insGTGT splice_region AMBP 3 81326 3.68886E-5 40663 0 1.66143E-5
9-116823191-GC-G n.1354delG splice_region AMBP 1 82818 1.20747E-5 41409 0 NA
9-116823203-A-G c.1027+2T>C splice_donor AMBP 4 82936 4.823E-5 41468 0 1.20258E-5
9-116823220-C-T p.Gly338Ser missense AMBP 1 83082 1.20363E-5 41541 0 7.499E-5
9-116823221-G-A p.Cys337Cys synonymous AMBP 1 83096 1.20343E-5 41548 0 3.18532E-5
9-116823231-C-G p.Arg334Thr missense AMBP 6 83142 7.21657E-5 41571 0 9.15416E-5
9-116823237-T-C p.Glu332Gly missense AMBP 1 83152 1.20262E-5 41576 0 8.27212E-6
9-116823238-C-T p.Glu332Lys missense AMBP 3 83160 3.6075E-5 41580 0 3.1839E-5
9-116823238-CCTT-C p.Lys331del conservative_inframe_deletion AMBP 1 83160 1.2025E-5 41580 0 1.19356E-5
9-116823245-T-C p.Ser329Ser synonymous AMBP 37 83182 4.44808E-4 41591 0 2.86642E-4
9-116823250-A-G p.Tyr328His missense AMBP 1 83178 1.20224E-5 41589 0 8.25859E-6
9-116823262-C-T p.Gly324Arg missense AMBP 3 83158 3.60759E-5 41579 0 3.1839E-5
9-116823263-G-A p.Asn323Asn synonymous AMBP 1 83160 1.2025E-5 41580 0 8.25232E-6
9-116823266-G-A p.Gly322Gly synonymous AMBP 1 83168 1.20239E-5 41584 0 1.65033E-5
9-116823272-G-A p.Cys193Cys splice_region+synonymous AMBP 1 83190 1.20207E-5 41595 0 NA
9-116823275-G-GC p.Cys320fs frameshift AMBP 2 83176 2.40454E-5 41588 0 3.18552E-5
9-116823279-C-A p.Gly318Val missense AMBP 2 83170 2.40471E-5 41585 0 3.18492E-5
9-116823281-G-A p.Tyr317Tyr synonymous AMBP 1 83156 1.20256E-5 41578 0 4.125E-5
9-116823285-G-A p.Pro316Leu missense AMBP 1 83164 1.20244E-5 41582 0 NA
9-116823292-G-A p.Leu314Phe missense AMBP 1 83168 1.20239E-5 41584 0 NA
9-116823295-C-T p.Val313Ile missense AMBP 3 83172 3.60698E-5 41586 0 7.55834E-5
9-116823296-G-A p.Cys312Cys synonymous AMBP 8 83164 9.61955E-5 41582 0 1.40259E-4
9-116823322-C-T p.Ala304Thr missense AMBP 3 83116 3.60941E-5 41558 0 1.19372E-5
9-116823329-CTG-C p.Gln301fs frameshift AMBP 2 83092 2.40697E-5 41546 0 3.18431E-5
9-116823332-G-C p.Ile300Met missense AMBP 2 83084 2.4072E-5 41542 0 3.1835E-5
9-116823333-AT-A p.Ile300fs frameshift AMBP 2 83080 2.40732E-5 41540 0 3.1839E-5
9-116823342-C-T p.Arg297Gln missense AMBP 4 83036 4.81719E-5 41518 0 5.03525E-4
9-116823343-G-A p.Arg297* stop_gained AMBP 2 83028 2.40883E-5 41514 0 2.4881E-5
9-116823346-A-T p.Cys296Ser missense AMBP 1 82990 1.20496E-5 41495 0 NA
9-116823348-G-A p.Pro295Leu missense AMBP 8 82990 9.63972E-5 41495 0 1.35409E-4
9-116823349-G-T p.Pro295Thr missense AMBP 1 82970 1.20525E-5 41485 0 NA
9-116823350-G-C p.Gly294Gly synonymous AMBP 1 82936 1.20575E-5 41468 0 3.1841E-5
9-116823354-C-T p.Arg293Gln missense AMBP 7 82888 8.44513E-5 41444 0 4.99675E-5
9-116823377-C-T p.Ala285Ala splice_region+synonymous AMBP 5 82508 6.06002E-5 41254 0 3.18532E-5
9-116823378-G-A p.Ala285Val missense+splice_region AMBP 7 82434 8.49164E-5 41217 0 8.4043E-5
9-116823696-G-A c.853+8C>T splice_region AMBP 13 82948 1.56725E-4 41474 0 9.14578E-5
9-116823698-A-T c.853+6T>A splice_region AMBP 2 83006 2.40946E-5 41503 0 4.15434E-5
9-116823699-C-T c.853+5G>A splice_region AMBP 2 83034 2.40865E-5 41517 0 1.19469E-5
9-116823704-C-A p.Ala285Ser missense+splice_region AMBP 1 83088 1.20354E-5 41544 0 NA
9-116823705-C-T p.Val284Val splice_region+synonymous AMBP 1 83096 1.20343E-5 41548 0 NA
9-116823712-C-G p.Arg282Pro missense AMBP 2 83122 2.4061E-5 41561 0 NA
9-116823712-C-T p.Arg282Gln missense AMBP 3 83122 3.60915E-5 41561 0 4.14773E-5
9-116823713-G-A p.Arg282* stop_gained AMBP 1 83122 1.20305E-5 41561 0 4.14573E-5
9-116823723-C-T p.Leu278Leu synonymous AMBP 33 83088 3.97169E-4 41544 1 0.00133801
9-116823726-A-G p.Cys277Cys synonymous AMBP 49 83120 5.89509E-4 41560 1 0.00175249
9-116823737-C-G p.Val165Leu missense+splice_region AMBP 1 83198 1.20195E-5 41599 0 NA
9-116823738-T-C p.Thr164Thr splice_region+synonymous AMBP 1 83202 1.20189E-5 41601 0 NA
9-116823743-C-T p.Val272Ile missense AMBP 8 83208 9.61446E-5 41604 0 2.86807E-4
9-116823747-G-A p.Asn270Asn synonymous AMBP 1 83232 1.20146E-5 41616 0 NA
9-116823755-C-T p.Gly268Ser missense AMBP 2 83226 2.4031E-5 41613 0 8.262E-6
9-116823756-G-A p.Asn267Asn synonymous AMBP 7 83220 8.41144E-5 41610 0 1.15375E-4
9-116823766-C-T p.Cys264Tyr missense AMBP 2 83232 2.40292E-5 41616 0 4.13073E-5
9-116823770-C-T p.Gly263Ser missense AMBP 3 83302 3.60135E-5 41651 0 2.47651E-5
9-116823771-G-A p.Gly262Gly synonymous AMBP 9 83300 1.08043E-4 41650 0 1.27543E-4
9-116823773-C-T p.Gly262Ser missense AMBP 3 83314 3.60084E-5 41657 0 5.03525E-4
9-116823774-G-A p.Tyr261Tyr synonymous AMBP 1471 83294 0.0176603 41647 30 0.0300778
9-116823775-T-C p.Tyr261Cys missense AMBP 2 83310 2.40067E-5 41655 0 3.97731E-6
9-116823783-A-G p.Thr258Thr synonymous AMBP 1 83316 1.20025E-5 41658 0 NA
9-116823787-TCACAGGC-T p.Ala255fs frameshift AMBP 5 83320 6.00096E-5 41660 0 6.37674E-5
9-116823795-C-T p.Met254Ile missense AMBP 1 83326 1.20011E-5 41663 0 6.25E-4
9-116823802-G-T p.Thr252Lys missense AMBP 1 83298 1.20051E-5 41649 0 5.7924E-5
9-116823802-G-A p.Thr252Ile missense AMBP 1 83298 1.20051E-5 41649 0 7.96178E-6
9-116823843-A-G p.Gly238Gly synonymous AMBP 3 83204 3.6056E-5 41602 0 5.04032E-4
9-116823845-C-T p.Gly238Ser missense AMBP 1 83210 1.20178E-5 41605 0 3.18674E-5
9-116823846-G-A p.Ala237Ala synonymous AMBP 12 83202 1.44227E-4 41601 0 6.26566E-4
9-116823849-C-T p.Ser236Ser synonymous AMBP 1 83170 1.20236E-5 41585 0 3.18593E-5
9-116823850-G-A p.Ser236Leu missense AMBP 1 83168 1.20239E-5 41584 0 5.1784E-5
9-116823855-G-T p.Gly234Gly synonymous AMBP 1 83120 1.20308E-5 41560 0 NA
9-116823856-C-G p.Gly234Ala missense AMBP 3 83118 3.60933E-5 41559 0 1.27397E-4
9-116823858-C-T p.Leu233Leu synonymous AMBP 2 83124 2.40604E-5 41562 0 2.86648E-5
9-116823859-A-G p.Leu233Pro missense AMBP 2 83108 2.40651E-5 41554 0 1.2738E-4
9-116823872-C-T c.686-1G>A splice_acceptor AMBP 1 82950 1.20555E-5 41475 0 NA
9-116823878-A-C c.686-7T>G splice_region AMBP 1 82794 1.20782E-5 41397 0 NA
9-116824957-CTTCTTTCTTGGTGACTTCAG-C p.Thr222fs frameshift AMBP 1 83206 1.20184E-5 41603 0 7.95608E-6
9-116824957-C-G p.Asp229His missense+splice_region AMBP 1 83206 1.20184E-5 41603 0 NA
9-116824985-T-G p.Gln219His missense AMBP 2 83300 2.40096E-5 41650 0 8.23737E-6
9-116824992-C-G p.Gly217Ala missense AMBP 1 83310 1.20034E-5 41655 0 NA
9-116824995-CCT-C p.Gly217fs frameshift AMBP 1 83312 1.20031E-5 41656 0 NA
9-116825004-T-G p.Glu213Ala missense AMBP 1 83330 1.20005E-5 41665 0 3.18817E-5
9-116825009-T-C p.Glu211Glu synonymous AMBP 3 83326 3.60032E-5 41663 0 8.23805E-6
9-116825022-A-G p.Val207Ala missense AMBP 1 83312 1.20031E-5 41656 0 NA
9-116825031-C-T p.Arg204Gln missense AMBP 6 83318 7.20133E-5 41659 0 5.03525E-4
9-116825032-G-A p.Arg204Trp missense AMBP 4 83316 4.801E-5 41658 0 4.12004E-5
9-116825034-ACT-A p.Arg202fs frameshift AMBP 1 83314 1.20028E-5 41657 0 4.12052E-5
9-116825037-C-T p.Arg202Lys missense+splice_region AMBP 2 83310 2.40067E-5 41655 0 8.24171E-6
9-116825042-C-T c.604-4G>A splice_region AMBP 1 83298 1.20051E-5 41649 0 6.37227E-5
9-116825043-G-A c.604-5C>T splice_region AMBP 5 83290 6.00312E-5 41645 1 0.001875
9-116825043-G-C c.604-5C>G splice_region AMBP 1 83290 1.20062E-5 41645 0 3.9781E-6
9-116825045-G-A c.604-7C>T splice_region AMBP 3 83278 3.60239E-5 41639 0 3.97804E-6
9-116831976-C-G c.603+3G>C splice_region AMBP 2 82424 2.42648E-5 41212 0 4.01706E-6
9-116831979-C-T p.Pro201Pro splice_region+synonymous AMBP 7 82464 8.48855E-5 41232 0 1.9118E-4
9-116831980-G-A p.Pro201Leu missense+splice_region AMBP 2 82516 2.42377E-5 41258 0 6.59382E-5
9-116831989-A-G p.Ile198Thr missense AMBP 269 82710 0.00325233 41355 2 0.005625
9-116832001-T-C p.Glu194Gly missense AMBP 1 82856 1.20691E-5 41428 0 NA
9-116832007-T-C p.Glu192Gly missense AMBP 883 82864 0.010656 41432 8 0.030625
9-116832021-T-C p.Glu187Glu synonymous AMBP 35 82998 4.21697E-4 41499 0 2.44272E-4
9-116832025-C-T p.Gly186Asp missense+splice_region AMBP 2 83004 2.40952E-5 41502 0 2.52321E-5
9-116832032-C-T c.557-7G>A splice_region AMBP 4 83030 4.81754E-5 41515 0 3.35948E-5
9-116832037-A-G p.Ser236Pro missense AMBP 9 83020 1.08408E-4 41510 0 1.59307E-4
9-116832038-G-T p.Cys235* stop_gained AMBP 1 83026 1.20444E-5 41513 0 8.39504E-6
9-116832049-G-A p.Pro232Ser missense AMBP 1 82974 1.2052E-5 41487 0 NA
9-116832062-G-A p.Val227Val synonymous AMBP 1 82758 1.20834E-5 41379 0 NA
9-116832069-C-T p.Gly225Asp missense AMBP 5 82552 6.05679E-5 41276 0 6.25E-4
9-116832069-C-A p.Gly225Val missense AMBP 1 82552 1.21136E-5 41276 0 3.18492E-5
9-116832070-C-T p.Gly225Ser missense AMBP 1 82560 1.21124E-5 41280 0 8.52428E-6
9-116832076-G-T p.Pro223Thr missense AMBP 1 82386 1.2138E-5 41193 0 NA
9-116832089-C-T p.Pro218Pro synonymous AMBP 242 81892 0.00295511 40946 3 0.00848106
9-116832090-G-A p.Pro218Leu missense AMBP 14 81882 1.70978E-4 40941 0 3.50519E-4
9-116832113-C-T p.Thr210Thr synonymous AMBP 2 80456 2.48583E-5 40228 0 3.41002E-5
9-116832114-G-A p.Thr210Met missense AMBP 2 80358 2.48886E-5 40179 0 1.72569E-4
9-116832120-G-A p.Pro208Leu missense AMBP 1 79934 1.25103E-5 39967 0 NA
9-116832126-TGTC-T p.Arg205del disruptive_inframe_deletion AMBP 2 79614 2.51212E-5 39807 0 1.78736E-5
9-116832130-G-A p.Arg205* stop_gained AMBP 1 79128 1.26378E-5 39564 0 6.20713E-5
9-116832141-C-A p.Trp201Leu missense AMBP 2 77922 2.56667E-5 38961 0 NA
9-116832149-G-A p.Phe198Phe synonymous AMBP 2 76668 2.60865E-5 38334 0 2.51218E-4
9-116832155-T-G p.Gly196Gly synonymous AMBP 2 75596 2.64564E-5 37798 0 NA
9-116832156-C-G p.Gly196Ala missense AMBP 1 75598 1.32279E-5 37799 0 NA
9-116832159-G-A p.Ala195Val missense AMBP 1 75116 1.33127E-5 37558 0 NA
9-116832181-C-T p.Gly188Ser missense AMBP 1 71014 1.40817E-5 35507 0 3.18634E-5
9-116835198-T-C c.556+7A>G splice_region AMBP 1 80864 1.23664E-5 40432 0 3.99256E-6
9-116835199-A-G c.556+6T>C splice_region AMBP 116 80892 0.00143401 40446 1 0.00360194
9-116835205-C-G p.Gly186Arg missense+splice_region AMBP 23 81180 2.83321E-4 40590 0 0.00215285
9-116835207-C-T p.Arg185Gln missense+splice_region AMBP 6 81240 7.38552E-5 40620 0 1.27494E-4
9-116835208-G-C p.Arg185Gly missense AMBP 3 81276 3.69113E-5 40638 0 3.18715E-5
9-116835251-C-T p.Gln170Gln synonymous AMBP 2 81788 2.44535E-5 40894 0 8.34474E-6
9-116835253-G-C p.Gln170Glu missense AMBP 1 81796 1.22255E-5 40898 0 8.35282E-6
9-116835271-C-G p.Asp164His missense AMBP 1 81486 1.2272E-5 40743 0 8.50977E-6
9-116835272-C-G p.Gln163His missense AMBP 1 81484 1.22723E-5 40742 0 7.97983E-6
9-116835287-C-T p.Arg158Arg synonymous AMBP 1 80946 1.23539E-5 40473 0 NA
9-116835296-C-T p.Pro155Pro synonymous AMBP 4 79956 5.00275E-5 39978 0 2.82523E-5
9-116835297-G-A p.Pro155Leu missense AMBP 4 79832 5.01052E-5 39916 0 1.20685E-4
9-116835299-C-T p.Ala154Ala synonymous AMBP 1 79646 1.25556E-5 39823 0 6.69728E-5
9-116835300-G-A p.Ala154Val missense AMBP 2 79420 2.51826E-5 39710 0 1.21194E-5
9-116835300-G-C p.Ala154Gly missense AMBP 1 79420 1.25913E-5 39710 0 NA
9-116835303-C-T p.Arg153Gln missense AMBP 3 79224 3.78673E-5 39612 0 4.04701E-5
9-116835314-G-A c.455-8C>T splice_region AMBP 2 78266 2.55539E-5 39133 0 1.2393E-5
9-116836317-G-A p.Tyr151Tyr splice_region+synonymous AMBP 14 83412 1.67842E-4 41706 0 2.22887E-4
9-116836323-C-T p.Lys149Lys synonymous AMBP 1 83416 1.19881E-5 41708 0 NA
9-116836331-T-A p.Thr147Ser missense AMBP 2 83408 2.39785E-5 41704 0 1.19295E-5
9-116836343-C-G p.Gly143Arg missense AMBP 3 83412 3.5966E-5 41706 0 3.97633E-6
9-116836346-G-GA p.His142fs frameshift AMBP 1 83416 1.19881E-5 41708 0 NA
9-116836349-G-A p.His141Tyr missense AMBP 1 83408 1.19893E-5 41704 0 NA
9-116836351-C-T p.Arg140His missense AMBP 1 83410 1.1989E-5 41705 0 1.19293E-5
9-116836386-A-C p.Asp128Glu missense AMBP 26 83404 3.11736E-4 41702 0 8.91777E-4
9-116836387-T-C p.Asp128Gly missense AMBP 1 83406 1.19895E-5 41703 0 NA
9-116836398-G-A p.His124His synonymous AMBP 8 83402 9.5921E-5 41701 0 7.95311E-6
9-116836407-A-G p.Tyr121Tyr synonymous AMBP 1 83390 1.19918E-5 41695 0 6.37064E-5
9-116836419-G-A p.Thr117Thr synonymous AMBP 1 83364 1.19956E-5 41682 0 3.18471E-5
9-116836438-T-C c.338-6A>G splice_region AMBP 1 83270 1.20091E-5 41635 0 3.18431E-5
9-116836439-G-T c.338-7C>A splice_region AMBP 1 83266 1.20097E-5 41633 0 8.26856E-6
9-116837247-G-A p.His110His synonymous AMBP 3 83266 3.60291E-5 41633 0 NA
9-116837251-T-TA p.Tyr109fs frameshift AMBP 8 83270 9.6073E-5 41635 0 5.04032E-4
9-116837252-A-G p.Tyr109His missense AMBP 2 83272 2.40177E-5 41636 0 NA
9-116837265-A-G p.Asp104Asp synonymous AMBP 7 83288 8.40457E-5 41644 0 3.18471E-5
9-116837274-T-G p.Thr101Thr synonymous AMBP 2 83282 2.40148E-5 41641 0 8.23927E-6
9-116837285-A-G p.Tyr98His missense AMBP 1 83278 1.2008E-5 41639 0 NA
9-116837288-C-G p.Ala97Pro missense AMBP 1 83274 1.20085E-5 41637 0 NA
9-116837295-C-T p.Thr94Thr synonymous AMBP 16 83276 1.92132E-4 41638 0 6.25E-4
9-116837295-C-G p.Thr94Thr synonymous AMBP 2 83276 2.40165E-5 41638 0 1.91034E-4
9-116837296-G-A p.Thr94Met missense AMBP 6 83272 7.2053E-5 41636 0 2.47227E-5
9-116837300-C-T p.Glu93Lys missense AMBP 1 83264 1.201E-5 41632 0 8.24185E-6
9-116837301-C-T p.Glu92Glu synonymous AMBP 2 83252 2.40234E-5 41626 0 9.55292E-5
9-116837308-A-T p.Val90Asp missense AMBP 18 83224 2.16284E-4 41612 0 3.50296E-4
9-116837311-C-T p.Gly89Asp missense AMBP 1 83222 1.20161E-5 41611 0 NA
9-116838878-C-T p.Arg87Gln missense+splice_region AMBP 2 81620 2.45038E-5 40810 0 3.18857E-5
9-116838879-G-A p.Arg87Trp missense+splice_region AMBP 1 81580 1.22579E-5 40790 0 6.38081E-5
9-116838883-A-G p.Arg85Arg synonymous AMBP 1 81832 1.22202E-5 40916 0 6.37836E-5
9-116838884-C-T p.Arg85His missense AMBP 3 81846 3.66542E-5 40923 0 2.48008E-5
9-116838885-G-A p.Arg85Cys missense AMBP 2 81836 2.44391E-5 40918 0 1.65273E-5
9-116838895-C-T p.Met81Ile missense AMBP 1 82104 1.21797E-5 41052 0 NA
9-116838907-C-T p.Ala77Ala synonymous AMBP 10 82348 1.21436E-4 41174 0 0.00100705
9-116838908-G-A p.Ala77Val missense AMBP 1 82318 1.2148E-5 41159 0 6.38081E-5
9-116838915-T-C p.Thr75Ala missense AMBP 2 82518 2.42371E-5 41259 0 3.18918E-5
9-116838918-C-T p.Ala74Thr missense AMBP 1 82530 1.21168E-5 41265 0 1.15378E-4
9-116838919-G-A p.Gly73Gly synonymous AMBP 6 82524 7.27061E-5 41262 1 0.00151057
9-116838921-C-T p.Gly73Ser missense AMBP 1 82596 1.21071E-5 41298 0 1.23603E-4
9-116838929-A-G p.Leu70Pro missense AMBP 1 82696 1.20925E-5 41348 0 3.18979E-5
9-116838954-T-C p.Arg62Gly missense AMBP 1 82872 1.20668E-5 41436 0 NA
9-116838957-C-T p.Asp61Asn missense AMBP 1 82894 1.20636E-5 41447 0 8.239E-6
9-116838963-T-C p.Ile59Val missense AMBP 2 82894 2.41272E-5 41447 0 NA
9-116838973-C-G p.Trp55Cys missense AMBP 1 82896 1.20633E-5 41448 0 NA
9-116838980-C-T p.Cys53Tyr missense AMBP 1 82874 1.20665E-5 41437 0 NA
9-116838984-T-C p.Thr52Ala missense AMBP 2 82844 2.41418E-5 41422 0 1.649E-5
9-116838986-G-A p.Ser51Phe missense AMBP 12 82848 1.44844E-4 41424 0 2.42771E-4
9-116838990-C-T p.Gly50Ser missense AMBP 1 82788 1.2079E-5 41394 0 3.97975E-6
9-116838999-G-C p.Leu47Val missense AMBP 2 82694 2.41856E-5 41347 0 3.18654E-5
9-116839016-T-C p.Tyr41Cys missense AMBP 1 82392 1.21371E-5 41196 0 NA
9-116839028-G-A c.118-8C>T splice_region AMBP 1 82034 1.21901E-5 41017 0 3.99278E-6
9-116840373-C-T p.Arg39Arg splice_region+synonymous AMBP 2 82654 2.41973E-5 41327 0 NA
9-116840375-G-A p.Arg39Trp missense+splice_region AMBP 2 82702 2.41832E-5 41351 0 5.76825E-5
9-116840377-G-A p.Ser38Phe missense AMBP 2 82774 2.41622E-5 41387 0 NA
9-116840383-T-C p.Asn36Ser missense AMBP 12 82958 1.44652E-4 41479 0 0.00125
9-116840389-T-A p.Asn34Ile missense AMBP 1 83056 1.20401E-5 41528 0 NA
9-116840411-C-T p.Asp27Asn missense AMBP 2 83218 2.40333E-5 41609 0 3.18695E-5
9-116840412-G-A p.Pro26Pro synonymous AMBP 1 83218 1.20166E-5 41609 0 5.58717E-5
9-116840415-C-T p.Pro25Pro synonymous AMBP 5 83214 6.0086E-5 41607 0 4.28689E-4
9-116840418-C-T p.Thr24Thr synonymous AMBP 1 83224 1.20158E-5 41612 0 1.99451E-5
9-116840419-G-A p.Thr24Met missense AMBP 8 83246 9.61007E-5 41623 0 1.64889E-4
9-116840419-G-T p.Thr24Lys missense AMBP 2 83246 2.40252E-5 41623 0 NA
9-116840427-A-AG p.Val22fs frameshift AMBP 1 83252 1.20117E-5 41626 0 NA
9-116840436-G-A p.Ser18Ser synonymous AMBP 192 83242 0.00230653 41621 1 0.0058936
9-116840436-G-T p.Ser18Arg missense AMBP 1 83246 1.20126E-5 41623 0 3.98899E-6
9-116840442-C-T p.Ala16Ala synonymous AMBP 2 83248 2.40246E-5 41624 0 7.97817E-6
9-116840443-G-T p.Ala16Glu missense AMBP 3 83248 3.60369E-5 41624 0 NA
9-116840443-G-A p.Ala16Val missense AMBP 2 83246 2.40252E-5 41623 0 3.18492E-5
9-116840450-A-G p.Cys14Arg missense AMBP 1 83252 1.20117E-5 41626 0 NA
9-116840453-C-T p.Ala13Thr missense AMBP 13 83242 1.56171E-4 41621 0 1.73276E-4
9-116840454-G-A p.Ser12Ser synonymous AMBP 3 83246 3.60378E-5 41623 0 3.59307E-5
9-116840459-G-A p.Leu11Leu synonymous AMBP 2 83242 2.40263E-5 41621 0 6.25E-4
9-116840477-C-T p.Gly5Arg missense AMBP 67 83206 8.0523E-4 41603 0 0.00222887
9-116840478-G-A p.Leu4Leu synonymous AMBP 3 83210 3.60534E-5 41605 0 2.40131E-5
9-116840478-G-T p.Leu4Leu synonymous AMBP 1 83210 1.20178E-5 41605 0 4.00218E-6
9-116840488-A-G p.Met1? start_lost AMBP 2 83150 2.40529E-5 41575 0 6.81112E-5
9-116840529-G-A c.-40C>T 5_prime_UTR_premature_start_codon_gain AMBP 3 82542 3.63451E-5 41271 0 6.33714E-4
9-116840551-C-A c.-62G>T 5_prime_UTR_premature_start_codon_gain AMBP 1 81480 1.2273E-5 40740 0 NA
9-116840670-A-G c.-181T>C 5_prime_UTR_premature_start_codon_gain AMBP 2 52474 3.81141E-5 26237 0 NA
9-116840673-G-A c.-184C>T 5_prime_UTR_premature_start_codon_gain AMBP 1 49678 2.01296E-5 24839 0 NA
9-116840673-G-C c.-184C>G 5_prime_UTR_premature_start_codon_gain AMBP 1 49680 2.01288E-5 24840 0 NA
9-116840714-G-A c.-225C>T 5_prime_UTR_premature_start_codon_gain AMBP 8 29882 2.6772E-4 14941 0 3.82239E-4