Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-63406010-C-G p.Cys801Ser missense AMER1 4 82036 4.87591E-5 41018 1 2.29463E-5
X-63406017-G-A p.Gln799* stop_gained AMER1 2 82096 2.43617E-5 41048 1 5.47882E-6
X-63406019-G-C p.Thr798Ser missense AMER1 3 82102 3.65399E-5 41051 1 2.29363E-5
X-63406023-C-T p.Val797Met missense AMER1 3 82124 3.65301E-5 41062 1 NA
X-63406029-G-A p.Arg795Cys missense AMER1 6 82132 7.30531E-5 41066 2 7.1218E-5
X-63406040-G-A p.Thr791Ile missense AMER1 2 82116 2.43558E-5 41058 0 2.29316E-5
X-63406049-C-A p.Cys788Phe missense AMER1 1 82118 1.21776E-5 41059 0 1.14682E-5
X-63406050-ATCT-A p.Arg787del conservative_inframe_deletion AMER1 18 82106 2.19229E-4 41053 4 1.42567E-4
X-63406052-C-T p.Arg787Lys missense+splice_region AMER1 1 82104 1.21797E-5 41052 0 1.0962E-5
X-63409759-C-T p.Ter1136Ter stop_retained AMER1 46 78928 5.8281E-4 39464 12 0.00118036
X-63409766-G-T p.Ala1134Asp missense AMER1 3 79216 3.78711E-5 39608 1 NA
X-63409779-T-C p.Asn1130Asp missense AMER1 1 79666 1.25524E-5 39833 0 0.00138026
X-63409809-G-A p.Leu1120Phe missense AMER1 1 79816 1.25288E-5 39908 0 2.34357E-4
X-63409813-G-A p.Ala1118Ala synonymous AMER1 1 79898 1.2516E-5 39949 0 1.74328E-5
X-63409817-C-A p.Gly1117Val missense AMER1 1 79944 1.25088E-5 39972 0 NA
X-63409827-C-A p.Ala1114Ser missense AMER1 1 80026 1.24959E-5 40013 0 1.80421E-5
X-63409827-C-T p.Ala1114Thr missense AMER1 2 80026 2.49919E-5 40013 1 1.39399E-4
X-63409831-C-T p.Glu1112Glu synonymous AMER1 36 80122 4.49315E-4 40061 7 0.0010223
X-63409837-T-C p.Ser1110Ser synonymous AMER1 1 80204 1.24682E-5 40102 0 9.28893E-5
X-63409844-T-G p.Asp1108Ala missense AMER1 2 80174 2.49457E-5 40087 1 NA
X-63409862-T-C p.Tyr1102Cys missense AMER1 1 80496 1.2423E-5 40248 0 NA
X-63409894-C-T p.Arg1091Arg synonymous AMER1 28 81092 3.45287E-4 40546 6 9.98342E-4
X-63409896-G-A p.Arg1091Trp missense AMER1 8 81224 9.84931E-5 40612 2 8.43853E-5
X-63409900-C-A p.Arg1089Ser missense AMER1 1 81346 1.22932E-5 40673 0 NA
X-63409919-C-A p.Gly1083Val missense AMER1 3 81590 3.67692E-5 40795 1 5.9715E-6
X-63409925-G-A p.Thr1081Ile missense AMER1 1 81658 1.22462E-5 40829 0 NA
X-63409938-G-T p.Pro1077Thr missense AMER1 1 81592 1.22561E-5 40796 0 NA
X-63409944-C-T p.Ala1075Thr missense AMER1 5 81472 6.13708E-5 40736 1 1.22514E-5
X-63409948-T-C p.Pro1073Pro synonymous AMER1 1 81498 1.22702E-5 40749 0 6.1059E-6
X-63409952-A-G p.Leu1072Pro missense AMER1 2 81534 2.45296E-5 40767 1 NA
X-63409957-G-C p.Ser1070Arg missense AMER1 2 81642 2.44972E-5 40821 1 NA
X-63409979-C-G p.Ser1063Thr missense AMER1 1 81896 1.22106E-5 40948 0 NA
X-63409991-C-T p.Ser1059Asn missense AMER1 2 82092 2.43629E-5 41046 0 NA
X-63409995-G-C p.Pro1058Ala missense AMER1 1 82146 1.21734E-5 41073 0 NA
X-63409996-C-G p.Glu1057Asp missense AMER1 1 82158 1.21717E-5 41079 0 NA
X-63410040-T-C p.Ser1043Gly missense AMER1 8 82572 9.68851E-5 41286 2 1.09666E-4
X-63410053-T-C p.Pro1038Pro synonymous AMER1 1 82664 1.20972E-5 41332 0 5.75288E-6
X-63410062-G-T p.Asn1035Lys missense AMER1 1 82672 1.2096E-5 41336 0 NA
X-63410063-T-C p.Asn1035Ser missense AMER1 2 82588 2.42166E-5 41294 1 NA
X-63410072-G-T p.Pro1032His missense AMER1 1 82754 1.2084E-5 41377 0 NA
X-63410075-C-T p.Gly1031Asp missense AMER1 1 82734 1.20869E-5 41367 0 9.08802E-5
X-63410085-G-C p.Leu1028Val missense AMER1 1 82842 1.20712E-5 41421 0 5.60482E-6
X-63410094-G-C p.His1025Asp missense AMER1 9 82844 1.08638E-4 41422 2 1.02535E-4
X-63410102-C-T p.Arg1022His missense AMER1 1 82880 1.20656E-5 41440 0 1.26299E-5
X-63410107-T-C p.Leu1020Leu synonymous AMER1 2 82934 2.41156E-5 41467 1 6.25E-4
X-63410110-T-C p.Gln1019Gln synonymous AMER1 10551 82842 0.127363 41421 4054 0.236074
X-63410118-C-A p.Gly1017Trp missense AMER1 1 82970 1.20525E-5 41485 0 5.53498E-6
X-63410123-T-C p.Glu1015Gly missense AMER1 1 82952 1.20552E-5 41476 0 NA
X-63410123-T-A p.Glu1015Val missense AMER1 1 82952 1.20552E-5 41476 0 1.21592E-5
X-63410150-G-A p.Ser1006Leu missense AMER1 1 82948 1.20557E-5 41474 0 5.52077E-6
X-63410152-T-C p.Leu1005Leu synonymous AMER1 3 82938 3.61716E-5 41469 0 1.19793E-5
X-63410154-G-A p.Leu1005Leu synonymous AMER1 1 82952 1.20552E-5 41476 0 1.10415E-5
X-63410172-T-C p.Met999Val missense AMER1 2 82922 2.41191E-5 41461 0 4.57206E-5
X-63410188-G-C p.Thr993Thr synonymous AMER1 8 82876 9.65298E-5 41438 2 5.02077E-4
X-63410224-G-A p.Asp981Asp synonymous AMER1 4 82508 4.84801E-5 41254 1 1.81736E-4
X-63410252-G-C p.Pro972Arg missense AMER1 1 82450 1.21286E-5 41225 0 NA
X-63410274-G-T p.Pro965Thr missense AMER1 10 82580 1.21095E-4 41290 4 5.02201E-5
X-63410283-C-T p.Ala962Thr missense AMER1 1 82520 1.21183E-5 41260 0 2.44897E-5
X-63410289-C-A p.Ala960Ser missense AMER1 1 82624 1.2103E-5 41312 0 NA
X-63410292-G-T p.Pro959Thr missense AMER1 4 82662 4.83898E-5 41331 2 1.1115E-5
X-63410298-C-T p.Asp957Asn missense AMER1 2 82724 2.41768E-5 41362 1 4.55456E-5
X-63410299-A-G p.Tyr956Tyr synonymous AMER1 1 82708 1.20907E-5 41354 0 NA
X-63410305-C-T p.Gly954Gly synonymous AMER1 1 82662 1.20975E-5 41331 0 NA
X-63410314-T-C p.Glu951Glu synonymous AMER1 2 82724 2.41768E-5 41362 1 NA
X-63410321-T-C p.Tyr949Cys missense AMER1 2 82806 2.41528E-5 41403 0 NA
X-63410335-A-G p.Ser944Ser synonymous AMER1 2 82810 2.41517E-5 41405 1 5.85322E-5
X-63410339-T-C p.Asp943Gly missense AMER1 3 82808 3.62284E-5 41404 1 1.16832E-5
X-63410342-C-T p.Arg942Gln missense AMER1 1 82822 1.20741E-5 41411 0 3.50087E-5
X-63410345-C-T p.Ser941Asn missense AMER1 1 82798 1.20776E-5 41399 0 NA
X-63410370-C-T p.Glu933Lys missense AMER1 1 82780 1.20802E-5 41390 0 4.59263E-5
X-63410412-C-G p.Asp919His missense AMER1 1 82828 1.20732E-5 41414 0 5.50831E-6
X-63410419-G-A p.Leu916Leu synonymous AMER1 2 82706 2.4182E-5 41353 1 NA
X-63410425-G-T p.Gly914Gly synonymous AMER1 2 82658 2.41961E-5 41329 1 NA
X-63410440-G-A p.Ser909Ser synonymous AMER1 1 82600 1.21065E-5 41300 0 1.15954E-5
X-63410449-G-C p.Leu906Leu synonymous AMER1 1 82574 1.21103E-5 41287 0 NA
X-63410464-G-A p.Thr901Thr synonymous AMER1 1 82572 1.21106E-5 41286 0 NA
X-63410478-C-T p.Asp897Asn missense AMER1 2 82442 2.42595E-5 41221 1 2.33446E-5
X-63410486-C-T p.Arg894His missense AMER1 2 82450 2.42571E-5 41225 1 4.56642E-5
X-63410487-G-A p.Arg894Cys missense AMER1 1 82466 1.21262E-5 41233 0 2.34129E-5
X-63410497-G-C p.Asn890Lys missense AMER1 2 82430 2.4263E-5 41215 1 1.1756E-5
X-63410514-C-A p.Ala885Ser missense AMER1 2 82468 2.42518E-5 41234 1 NA
X-63410516-G-A p.Pro884Leu missense AMER1 134 82476 0.00162472 41238 33 0.00551344
X-63410525-C-A p.Arg881Leu missense AMER1 3 82388 3.64131E-5 41194 0 9.21107E-5
X-63410525-C-T p.Arg881Gln missense AMER1 1 82388 1.21377E-5 41194 0 7.22135E-5
X-63410529-G-A p.Pro880Ser missense AMER1 20 82478 2.42489E-4 41239 5 7.33508E-4
X-63410551-G-A p.Tyr872Tyr synonymous AMER1 1 82586 1.21086E-5 41293 0 NA
X-63410590-G-A p.Tyr859Tyr synonymous AMER1 4 82692 4.83723E-5 41346 2 3.47138E-5
X-63410597-C-T p.Arg857Gln missense AMER1 9 82722 1.08798E-4 41361 2 9.17894E-5
X-63410626-G-A p.His847His synonymous AMER1 1 82780 1.20802E-5 41390 0 NA
X-63410630-T-C p.Tyr846Cys missense AMER1 4 82738 4.83454E-5 41369 1 1.09346E-4
X-63410638-C-T p.Leu843Leu synonymous AMER1 1 82738 1.20863E-5 41369 0 6.01739E-6
X-63410647-G-A p.Ala840Ala synonymous AMER1 43 82756 5.196E-4 41378 13 0.0018705
X-63410661-C-A p.Ala836Ser missense AMER1 2 82674 2.41914E-5 41337 1 NA
X-63410664-C-G p.Ala835Pro missense AMER1 2 82646 2.41996E-5 41323 0 2.89191E-5
X-63410679-T-C p.Asn830Asp missense AMER1 3 82644 3.63003E-5 41322 1 9.15081E-5
X-63410681-T-C p.His829Arg missense AMER1 2 82624 2.4206E-5 41312 0 1.13156E-5
X-63410686-C-T p.Glu827Glu synonymous AMER1 1 82622 1.21033E-5 41311 0 4.56433E-5
X-63410713-C-T p.Gly818Gly synonymous AMER1 14 82564 1.69565E-4 41282 4 6.25E-4
X-63410720-C-T p.Arg816Gln missense AMER1 5 82532 6.05826E-5 41266 0 5.5118E-6
X-63410721-G-A p.Arg816Trp missense AMER1 2 82522 2.4236E-5 41261 1 2.55447E-5
X-63410733-C-T p.Ala812Thr missense AMER1 2 82516 2.42377E-5 41258 1 4.99033E-5
X-63410734-G-A p.Ile811Ile synonymous AMER1 1 82530 1.21168E-5 41265 0 1.24315E-4
X-63410794-G-A p.Asp791Asp synonymous AMER1 46 82248 5.59284E-4 41124 15 0.00125
X-63410819-A-G p.Phe783Ser missense AMER1 1 82442 1.21297E-5 41221 0 NA
X-63410834-C-T p.Ser778Asn missense AMER1 1 82674 1.20957E-5 41337 0 NA
X-63410868-C-T p.Val767Met missense AMER1 2 83002 2.40958E-5 41501 0 3.585E-5
X-63410917-G-A p.Pro750Pro synonymous AMER1 2 83152 2.40523E-5 41576 1 2.72847E-5
X-63410919-G-A p.Pro750Ser missense AMER1 6 83148 7.21605E-5 41574 2 2.20497E-4
X-63410922-A-G p.Ser749Pro missense AMER1 1 83148 1.20267E-5 41574 0 1.1581E-5
X-63410944-G-A p.Pro741Pro synonymous AMER1 1 83164 1.20244E-5 41582 0 3.44124E-5
X-63410948-G-C p.Ser740Cys missense AMER1 1 83166 1.20241E-5 41583 0 NA
X-63410961-T-C p.Asn736Asp missense AMER1 1 83156 1.20256E-5 41578 0 2.18051E-5
X-63410974-G-A p.Asp731Asp synonymous AMER1 4 83110 4.8129E-5 41555 1 1.14176E-5
X-63410992-A-C p.Asp725Glu missense AMER1 11 83122 1.32336E-4 41561 2 1.94084E-4
X-63411010-C-T p.Met719Ile missense AMER1 5 83084 6.01801E-5 41542 1 2.74142E-4
X-63411015-G-T p.Leu718Met missense AMER1 2 83076 2.40743E-5 41538 1 NA
X-63411034-C-T p.Lys711Lys synonymous AMER1 1 83032 1.20435E-5 41516 0 1.63562E-5
X-63411039-A-G p.Ser710Pro missense AMER1 2 82984 2.4101E-5 41492 1 NA
X-63411071-C-T p.Arg699His missense AMER1 3 82800 3.62319E-5 41400 0 4.60072E-5
X-63411085-G-A p.Asp694Asp synonymous AMER1 1 82756 1.20837E-5 41378 0 1.09095E-5
X-63411093-C-T p.Glu692Lys missense AMER1 1 82710 1.20904E-5 41355 0 2.72878E-5
X-63411094-G-A p.Ser691Ser synonymous AMER1 2 82688 2.41873E-5 41344 0 2.3135E-5
X-63411131-C-T p.Arg679Gln missense AMER1 1 82708 1.20907E-5 41354 0 1.16883E-5
X-63411132-G-A p.Arg679Trp missense AMER1 10 82716 1.20896E-4 41358 3 0.00125
X-63411136-G-T p.Ser677Ser synonymous AMER1 3 82704 3.62739E-5 41352 0 2.19487E-5
X-63411138-A-G p.Ser677Pro missense AMER1 1 82690 1.20934E-5 41345 0 3.50853E-5
X-63411152-C-T p.Gly672Glu missense AMER1 7 82806 8.45349E-5 41403 1 5.49529E-6
X-63411160-C-T p.Gly669Gly synonymous AMER1 8 82878 9.65274E-5 41439 3 1.29166E-4
X-63411161-C-T p.Gly669Glu missense AMER1 3 82896 3.61899E-5 41448 1 5.49224E-6
X-63411176-A-G p.Met664Thr missense AMER1 2 82968 2.41057E-5 41484 1 NA
X-63411181-T-C p.Ser662Ser synonymous AMER1 1 82960 1.2054E-5 41480 0 5.48591E-6
X-63411185-G-A p.Pro661Leu missense AMER1 1 82960 1.2054E-5 41480 0 NA
X-63411194-G-A p.Pro658Leu missense AMER1 1 82984 1.20505E-5 41492 0 1.17353E-5
X-63411196-C-T p.Arg657Arg synonymous AMER1 1 82966 1.20531E-5 41483 0 6.25E-4
X-63411209-T-G p.Glu653Ala missense AMER1 1 82884 1.20651E-5 41442 0 NA
X-63411216-C-T p.Val651Ile missense AMER1 5 82848 6.03515E-5 41424 1 2.3176E-4
X-63411217-G-A p.Pro650Pro synonymous AMER1 3 82828 3.62196E-5 41414 0 2.3423E-5
X-63411237-G-C p.Gln644Glu missense AMER1 2 82704 2.41826E-5 41352 1 4.61638E-5
X-63411265-A-G p.Arg634Arg synonymous AMER1 1 82480 1.21242E-5 41240 0 NA
X-63411266-C-T p.Arg634His missense AMER1 2 82496 2.42436E-5 41248 0 4.61894E-5
X-63411267-G-A p.Arg634Cys missense AMER1 2 82456 2.42554E-5 41228 0 NA
X-63411275-C-T p.Arg631Gln missense AMER1 1 82440 1.213E-5 41220 0 2.35743E-5
X-63411281-T-C p.Gln629Arg missense AMER1 8 82474 9.70003E-5 41237 2 7.06814E-5
X-63411285-C-A p.Ala628Ser missense AMER1 3 82426 3.63963E-5 41213 1 1.0996E-5
X-63411290-C-T p.Arg626Gln missense AMER1 5 82400 6.06796E-5 41200 2 4.59179E-5
X-63411294-T-C p.Thr625Ala missense AMER1 71 82376 8.61901E-4 41188 17 7.20275E-4
X-63411323-G-T p.Thr615Asn missense AMER1 4 82646 4.83992E-5 41323 2 1.17481E-5
X-63411329-G-T p.Ala613Asp missense AMER1 2 82550 2.42277E-5 41275 0 1.17469E-5
X-63411334-C-T p.Arg611Arg synonymous AMER1 2 82666 2.41937E-5 41333 1 NA
X-63411339-C-T p.Ala610Thr missense AMER1 1 82660 1.20978E-5 41330 0 NA
X-63411344-G-A p.Ala608Val missense AMER1 11 82570 1.3322E-4 41285 3 2.34288E-5
X-63411365-C-T p.Arg601Gln missense AMER1 13 82888 1.56838E-4 41444 1 1.25645E-4
X-63411368-G-C p.Thr600Ser missense AMER1 2 82894 2.41272E-5 41447 1 5.45944E-6
X-63411371-T-C p.Tyr599Cys missense AMER1 45 82888 5.42901E-4 41444 11 4.5939E-4
X-63411385-G-A p.His594His synonymous AMER1 4 82848 4.82812E-5 41424 0 6.87758E-4
X-63411402-G-A p.His589Tyr missense AMER1 1 82884 1.20651E-5 41442 0 6.25E-4
X-63411411-G-C p.Arg586Gly missense AMER1 2 82816 2.41499E-5 41408 1 4.60109E-5
X-63411416-C-T p.Arg584His missense AMER1 4 82814 4.8301E-5 41407 1 1.14436E-5
X-63411419-G-T p.Ala583Glu missense AMER1 2 82782 2.41598E-5 41391 1 NA
X-63411420-C-T p.Ala583Thr missense AMER1 3 82810 3.62275E-5 41405 1 NA
X-63411427-G-C p.Ala580Ala synonymous AMER1 2 82872 2.41336E-5 41436 0 4.36798E-5
X-63411443-C-T p.Arg575Gln missense AMER1 6 82944 7.2338E-5 41472 1 4.57394E-5
X-63411446-C-T p.Arg574Gln missense AMER1 5 82974 6.02598E-5 41487 1 4.573E-5
X-63411447-G-A p.Arg574Trp missense AMER1 1 82988 1.20499E-5 41494 0 2.28626E-5
X-63411489-G-A p.Arg560Trp missense AMER1 2 83098 2.4068E-5 41549 1 5.70809E-5
X-63411501-T-C p.Thr556Ala missense AMER1 3 83126 3.60898E-5 41563 1 NA
X-63411506-A-G p.Met554Thr missense AMER1 2 83130 2.40587E-5 41565 0 1.63699E-5
X-63411516-G-A p.Pro551Ser missense AMER1 1 83060 1.20395E-5 41530 0 NA
X-63411521-C-T p.Arg549Gln missense AMER1 7 83036 8.43008E-5 41518 2 6.25782E-4
X-63411522-G-A p.Arg549Trp missense AMER1 4 83032 4.81742E-5 41516 2 2.73118E-5
X-63411522-G-T p.Arg549Arg synonymous AMER1 1 83032 1.20435E-5 41516 0 5.46236E-6
X-63411526-G-A p.Ser547Ser synonymous AMER1 2 83058 2.40796E-5 41529 1 5.46168E-6
X-63411530-A-C p.Leu546Trp missense AMER1 1 83064 1.20389E-5 41532 0 4.58889E-5
X-63411556-G-A p.Asp537Asp synonymous AMER1 39 82852 4.70719E-4 41426 9 3.25139E-4
X-63411563-A-T p.Met535Lys missense AMER1 11 82802 1.32847E-4 41401 3 1.81984E-4
X-63411565-C-T p.Glu534Glu synonymous AMER1 1 82786 1.20793E-5 41393 0 1.16668E-5
X-63411574-T-C p.Arg531Arg synonymous AMER1 1 82688 1.20937E-5 41344 0 NA
X-63411598-G-A p.Asp523Asp synonymous AMER1 1 82556 1.2113E-5 41278 0 NA
X-63411641-T-C p.Tyr509Cys missense AMER1 1 82404 1.21353E-5 41202 0 NA
X-63411677-C-T p.Arg497Gln missense AMER1 2 82108 2.43582E-5 41054 0 5.48089E-6
X-63411677-CG-C p.Arg497fs frameshift AMER1 1 82108 1.21791E-5 41054 0 NA
X-63411695-C-T p.Arg491His missense AMER1 6 81810 7.33407E-5 40905 1 1.50629E-4
X-63411704-C-A p.Gly488Val missense AMER1 2 81768 2.44594E-5 40884 1 NA
X-63411709-G-A p.Ala486Ala synonymous AMER1 5 81666 6.1225E-5 40833 2 1.15544E-5
X-63411726-C-T p.Asp481Asn missense AMER1 3 81590 3.67692E-5 40795 0 6.87758E-4
X-63411739-T-C p.Thr476Thr synonymous AMER1 1 81462 1.22757E-5 40731 0 NA
X-63411769-A-G p.Asn466Asn synonymous AMER1 1 81436 1.22796E-5 40718 0 4.59886E-5
X-63411777-C-T p.Ala464Thr missense AMER1 2 81316 2.45954E-5 40658 0 1.14958E-5
X-63411778-G-A p.Ser463Ser synonymous AMER1 6 81396 7.37137E-5 40698 1 1.14899E-5
X-63411802-A-T p.Thr455Thr synonymous AMER1 3 81442 3.6836E-5 40721 0 4.60193E-5
X-63411820-G-T p.Ala449Ala synonymous AMER1 2 81520 2.45339E-5 40760 0 6.546E-5
X-63411824-A-G p.Leu448Pro missense AMER1 12 81528 1.47189E-4 40764 2 4.36369E-5
X-63411825-G-T p.Leu448Ile missense AMER1 2 81504 2.45387E-5 40752 1 6.85182E-5
X-63411833-T-A p.Tyr445Phe missense AMER1 4 81504 4.90773E-5 40752 1 5.45432E-6
X-63411843-C-T p.Val442Ile missense AMER1 1 81518 1.22672E-5 40759 0 NA
X-63411862-G-C p.Gly435Gly synonymous AMER1 5 81362 6.14537E-5 40681 2 0.00206754
X-63411863-C-T p.Gly435Asp missense AMER1 2 81320 2.45942E-5 40660 0 5.45384E-6
X-63411864-C-T p.Gly435Ser missense AMER1 4 81282 4.92114E-5 40641 1 1.14021E-5
X-63411865-G-A p.His434His synonymous AMER1 2 81316 2.45954E-5 40658 0 4.56767E-5
X-63411869-T-G p.His433Pro missense AMER1 1 81258 1.23065E-5 40629 0 4.56684E-5
X-63411884-G-A p.Thr428Ile missense AMER1 3 81028 3.70242E-5 40514 0 5.69904E-5
X-63411886-G-A p.Pro427Pro synonymous AMER1 1 81004 1.23451E-5 40502 0 NA
X-63411897-C-T p.Gly424Ser missense AMER1 1 80904 1.23603E-5 40452 0 NA
X-63411912-G-A p.Pro419Ser missense AMER1 1 80782 1.2379E-5 40391 0 NA
X-63411914-C-T p.Arg418Gln missense AMER1 6 80744 7.43089E-5 40372 2 6.25E-4
X-63411915-G-A p.Arg418Trp missense AMER1 3 80808 3.7125E-5 40404 1 9.19413E-5
X-63411920-T-C p.Tyr416Cys missense AMER1 2 80830 2.47433E-5 40415 1 5.4553E-6
X-63411925-T-A p.Gln414His missense AMER1 2 80894 2.47237E-5 40447 1 1.13973E-5
X-63411951-A-T p.Leu406Ile missense AMER1 1 81118 1.23277E-5 40559 0 NA
X-63411952-G-A p.Asp405Asp synonymous AMER1 2 81130 2.46518E-5 40565 1 5.45944E-6
X-63411959-T-C p.Asp403Gly missense AMER1 11 81356 1.35208E-4 40678 4 4.10415E-4
X-63411965-T-C p.Glu401Gly missense AMER1 4 81530 4.90617E-5 40765 1 1.14032E-5
X-63411982-C-G p.Glu395Asp missense AMER1 2 82004 2.43891E-5 41002 0 1.14042E-5
X-63412004-ACCTCTTCTT-A p.Glu385_Glu387del disruptive_inframe_deletion AMER1 88 82498 0.00106669 41249 20 8.515E-4
X-63412012-T-C p.Glu385Glu synonymous AMER1 1 82634 1.21016E-5 41317 0 2.75141E-4
X-63412014-C-G p.Glu385Gln missense AMER1 11 82676 1.33049E-4 41338 3 1.48368E-4
X-63412029-C-T p.Glu380Lys missense AMER1 4 82730 4.83501E-5 41365 1 1.14021E-5
X-63412030-G-A p.Asp379Asp synonymous AMER1 169 82686 0.00204388 41343 35 0.00482426
X-63412075-G-A p.Thr364Thr synonymous AMER1 7 82670 8.4674E-5 41335 1 4.56163E-4
X-63412089-A-G p.Ser360Pro missense AMER1 1 82702 1.20916E-5 41351 0 3.81913E-5
X-63412092-T-A p.Ser359Cys missense AMER1 2 82702 2.41832E-5 41351 1 4.55042E-5
X-63412094-C-T p.Arg358Gln missense AMER1 1 82698 1.20922E-5 41349 0 4.56043E-5
X-63412101-T-A p.Thr356Ser missense AMER1 9 82732 1.08785E-4 41366 0 NA
X-63412102-C-T p.Gly355Gly synonymous AMER1 2 82740 2.41721E-5 41370 1 1.14006E-5
X-63412133-G-A p.Ala345Val missense AMER1 3 82876 3.61987E-5 41438 0 4.56976E-5
X-63412134-C-T p.Ala345Thr missense AMER1 1 82874 1.20665E-5 41437 0 NA
X-63412158-T-G p.Met337Leu missense AMER1 1 82870 1.20671E-5 41435 0 NA
X-63412159-G-C p.Asp336Glu missense AMER1 2 82872 2.41336E-5 41436 1 1.48141E-4
X-63412176-T-A p.Ile331Leu missense AMER1 3 82814 3.62258E-5 41407 1 NA
X-63412203-A-C p.Phe322Val missense AMER1 1 82628 1.21024E-5 41314 0 NA
X-63412213-G-A p.Ser318Ser synonymous AMER1 1 82486 1.21233E-5 41243 0 NA
X-63412230-A-G p.Phe313Leu missense AMER1 2 82366 2.42819E-5 41183 1 NA
X-63412238-C-T p.Ser310Asn missense AMER1 2 82334 2.42913E-5 41167 0 4.53022E-5
X-63412244-G-T p.Pro308Gln missense AMER1 30 82262 3.64688E-4 41131 10 1.79926E-4
X-63412247-T-G p.Asp307Ala missense AMER1 2 82232 2.43214E-5 41116 1 NA
X-63412249-C-T p.Gly306Gly synonymous AMER1 60 82252 7.29466E-4 41126 13 8.95522E-4
X-63412259-C-T p.Gly303Asp missense AMER1 23 82266 2.79581E-4 41133 5 0.00125
X-63412260-C-T p.Gly303Ser missense AMER1 2 82286 2.43055E-5 41143 0 NA
X-63412262-T-C p.Asn302Ser missense AMER1 2 82264 2.4312E-5 41132 0 5.46191E-6
X-63412265-G-A p.Pro301Leu missense AMER1 1 82248 1.21584E-5 41124 0 NA
X-63412269-G-T p.Pro300Thr missense AMER1 10 82266 1.21557E-4 41133 4 5.46699E-5
X-63412284-C-T p.Ala295Thr missense AMER1 4 82364 4.85649E-5 41182 2 9.00576E-5
X-63412291-C-G p.Lys292Asn missense AMER1 570 82458 0.00691261 41229 134 0.0118098
X-63412297-C-T p.Gly290Gly synonymous AMER1 5 82536 6.05796E-5 41268 1 2.77191E-5
X-63412298-CCT-C p.Lys292fs frameshift AMER1 1 82542 1.2115E-5 41271 0 NA
X-63412301-G-A p.Thr289Ile missense AMER1 2 82572 2.42213E-5 41286 0 NA
X-63412318-C-T p.Glu283Glu synonymous AMER1 1 82762 1.20828E-5 41381 0 1.19801E-5
X-63412335-C-A p.Ala278Ser missense AMER1 117 82910 0.00141117 41455 24 0.00270624
X-63412338-C-T p.Glu277Lys missense AMER1 2 82910 2.41225E-5 41455 0 3.5067E-5
X-63412343-G-A p.Ala275Val missense AMER1 2 82926 2.41179E-5 41463 1 NA
X-63412345-A-G p.Pro274Pro synonymous AMER1 3 82930 3.61751E-5 41465 1 4.5255E-5
X-63412345-A-C p.Pro274Pro synonymous AMER1 1 82930 1.20584E-5 41465 0 5.89518E-6
X-63412351-G-A p.Pro272Pro synonymous AMER1 2 82924 2.41185E-5 41462 1 NA
X-63412363-T-A p.Ala268Ala synonymous AMER1 1 82960 1.2054E-5 41480 0 NA
X-63412365-C-T p.Ala268Thr missense AMER1 4 82974 4.82079E-5 41487 2 NA
X-63412377-C-T p.Ala264Thr missense AMER1 38 83068 4.57457E-4 41534 8 0.00481762
X-63412384-G-C p.Pro261Pro synonymous AMER1 2 83160 2.405E-5 41580 1 4.5335E-5
X-63412403-C-T p.Cys255Tyr missense AMER1 1 83204 1.20187E-5 41602 0 NA
X-63412407-C-T p.Ala254Thr missense AMER1 4 83214 4.80688E-5 41607 1 NA
X-63412422-C-T p.Ala249Thr missense AMER1 2 83228 2.40304E-5 41614 0 1.20571E-4
X-63412425-G-T p.Pro248Thr missense AMER1 8 83222 9.61284E-5 41611 1 1.81884E-4
X-63412446-G-A p.Pro241Ser missense AMER1 2 83222 2.40321E-5 41611 1 6.02544E-6
X-63412470-C-A p.Asp233Tyr missense AMER1 28 83202 3.3653E-4 41601 7 2.50549E-4
X-63412484-T-A p.Asn228Ile missense AMER1 2 83182 2.40437E-5 41591 0 1.37931E-4
X-63412497-G-C p.Pro224Ala missense AMER1 1 83134 1.20288E-5 41567 0 NA
X-63412498-G-C p.Ala223Ala synonymous AMER1 1 83136 1.20285E-5 41568 0 NA
X-63412510-C-A p.Glu219Asp missense AMER1 1 83090 1.20351E-5 41545 0 NA
X-63412520-C-G p.Cys216Ser missense AMER1 1 83072 1.20378E-5 41536 0 NA
X-63412529-T-C p.Gln213Arg missense AMER1 3 83074 3.61124E-5 41537 0 4.55228E-5
X-63412536-C-T p.Ala211Thr missense AMER1 1 83034 1.20433E-5 41517 0 NA
X-63412545-C-T p.Val208Met missense AMER1 5 83048 6.02061E-5 41524 1 1.24293E-5
X-63412562-G-C p.Ala202Gly missense AMER1 4 83084 4.8144E-5 41542 1 NA
X-63412569-C-T p.Val200Ile missense AMER1 2 83092 2.40697E-5 41546 1 NA
X-63412578-G-T p.Pro197Thr missense AMER1 1 83112 1.2032E-5 41556 0 1.23976E-5
X-63412580-C-A p.Gly196Val missense AMER1 2 83116 2.40628E-5 41558 1 NA
X-63412606-A-G p.Ala187Ala synonymous AMER1 1 83148 1.20267E-5 41574 0 2.43333E-5
X-63412622-C-T p.Ser182Asn missense AMER1 2 83114 2.40633E-5 41557 0 5.80879E-6
X-63412628-C-T p.Arg180Gln missense AMER1 1 83086 1.20357E-5 41543 0 2.41905E-5
X-63412634-C-T p.Arg178His missense AMER1 4 83056 4.81603E-5 41528 1 1.37722E-4
X-63412637-C-T p.Arg177His missense AMER1 1 83064 1.20389E-5 41532 0 2.23435E-5
X-63412638-G-A p.Arg177Cys missense AMER1 1 83046 1.20415E-5 41523 0 4.45822E-5
X-63412643-C-A p.Ser175Ile missense AMER1 1 83046 1.20415E-5 41523 0 NA
X-63412664-C-T p.Gly168Asp missense AMER1 5 82928 6.02933E-5 41464 2 1.09886E-5
X-63412690-A-C p.Phe159Leu missense AMER1 5337 82626 0.0645923 41313 1608 0.120703
X-63412693-C-T p.Lys158Lys synonymous AMER1 2 82786 2.41587E-5 41393 1 4.58947E-5
X-63412715-G-T p.Thr151Lys missense AMER1 1 82764 1.20825E-5 41382 0 NA
X-63412718-G-C p.Ala150Gly missense AMER1 1 82648 1.20995E-5 41324 0 0.0103377
X-63412724-G-T p.Ala148Asp missense AMER1 1 82864 1.2068E-5 41432 0 NA
X-63412757-A-G p.Leu137Ser missense AMER1 1 82978 1.20514E-5 41489 0 5.45102E-6
X-63412760-G-A p.Ala136Val missense AMER1 2 82974 2.41039E-5 41487 1 NA
X-63412766-T-G p.His134Pro missense AMER1 110 82974 0.00132572 41487 26 0.00178416
X-63412767-G-A p.His134Tyr missense AMER1 2 82994 2.40981E-5 41497 0 6.84806E-5
X-63412787-A-G p.Phe127Ser missense AMER1 82 83048 9.87381E-4 41524 21 0.00137552
X-63412793-C-T p.Cys125Tyr missense AMER1 1 83052 1.20406E-5 41526 0 6.87758E-4
X-63412811-G-C p.Pro119Arg missense AMER1 2 83064 2.40778E-5 41532 1 1.14045E-5
X-63412817-G-C p.Ser117Cys missense AMER1 1 83058 1.20398E-5 41529 0 NA
X-63412819-G-A p.Phe116Phe synonymous AMER1 3 83044 3.61254E-5 41522 1 1.1411E-5
X-63412826-G-C p.Thr114Ser missense AMER1 1 83096 1.20343E-5 41548 0 5.45042E-6
X-63412826-G-T p.Thr114Asn missense AMER1 1 83096 1.20343E-5 41548 0 NA
X-63412828-T-C p.Gly113Gly synonymous AMER1 1 83092 1.20349E-5 41546 0 5.45016E-6
X-63412839-C-A p.Val110Phe missense AMER1 1 83082 1.20363E-5 41541 0 NA
X-63412852-G-A p.Gly105Gly synonymous AMER1 17 83022 2.04765E-4 41511 4 4.90319E-4
X-63412856-T-C p.His104Arg missense AMER1 50 83006 6.02366E-4 41503 14 0.00482426
X-63412867-A-C p.Ser100Arg missense AMER1 1 83012 1.20465E-5 41506 0 NA
X-63412878-C-T p.Asp97Asn missense AMER1 1 83010 1.20467E-5 41505 0 1.09045E-5
X-63412879-G-A p.His96His synonymous AMER1 3 83020 3.61359E-5 41510 1 1.03593E-4
X-63412882-G-A p.Thr95Thr synonymous AMER1 1 83026 1.20444E-5 41513 0 9.20556E-5
X-63412893-T-C p.Lys92Glu missense AMER1 2 83010 2.40935E-5 41505 1 1.14097E-5
X-63412897-G-A p.Leu90Leu synonymous AMER1 8 83012 9.63716E-5 41506 3 2.28222E-5
X-63412901-C-A p.Gly89Val missense AMER1 5 83016 6.02294E-5 41508 2 4.59327E-5
X-63412903-T-C p.Lys88Lys synonymous AMER1 4 83022 4.818E-5 41511 1 5.45572E-6
X-63412928-C-G p.Gly80Ala missense AMER1 7 83068 8.42683E-5 41534 2 2.72829E-5
X-63412936-C-A p.Arg77Arg synonymous AMER1 1 83060 1.20395E-5 41530 0 NA
X-63412936-C-G p.Arg77Arg synonymous AMER1 1 83060 1.20395E-5 41530 0 NA
X-63412937-C-T p.Arg77Gln missense AMER1 4 83062 4.81568E-5 41531 2 5.70789E-5
X-63412944-C-T p.Gly75Arg missense AMER1 3 83108 3.60976E-5 41554 1 NA
X-63412960-C-G p.Leu69Leu synonymous AMER1 1 83164 1.20244E-5 41582 0 2.28222E-5
X-63412962-G-T p.Leu69Met missense AMER1 4 83180 4.80885E-5 41590 1 3.27131E-5
X-63412978-C-A p.Lys63Asn missense AMER1 3 83162 3.60742E-5 41581 1 1.14098E-5
X-63412982-C-A p.Gly62Val missense AMER1 13 83156 1.56333E-4 41578 4 0.00137552
X-63412983-C-G p.Gly62Arg missense AMER1 1 83170 1.20236E-5 41585 0 3.42278E-5
X-63412987-A-G p.Phe60Phe synonymous AMER1 2 83164 2.40489E-5 41582 0 NA
X-63413026-G-A p.Ser47Ser synonymous AMER1 3 83186 3.60638E-5 41593 1 2.184E-5
X-63413032-G-A p.Ser45Ser synonymous AMER1 1616 83194 0.0194245 41597 441 0.109851
X-63413033-G-A p.Ser45Phe missense AMER1 3 83198 3.60586E-5 41599 1 1.09165E-5
X-63413051-C-A p.Gly39Val missense AMER1 12 83192 1.44245E-4 41596 3 2.28718E-4
X-63413058-T-C p.Thr37Ala missense AMER1 2 83176 2.40454E-5 41588 0 5.46287E-6
X-63413060-G-A p.Ala36Val missense AMER1 1 83148 1.20267E-5 41574 0 4.5861E-5
X-63413074-G-A p.Asn31Asn synonymous AMER1 1 83164 1.20244E-5 41582 0 NA
X-63413082-C-T p.Ala29Thr missense AMER1 122 83148 0.00146726 41574 26 0.0028414
X-63413093-G-A p.Ala25Val missense AMER1 6 83078 7.22213E-5 41539 1 1.14055E-5
X-63413105-C-T p.Arg21His missense AMER1 13 82970 1.56683E-4 41485 2 0.00125
X-63413108-G-A p.Thr20Ile missense AMER1 1 82956 1.20546E-5 41478 0 2.18111E-5
X-63413113-C-T p.Gly18Gly synonymous AMER1 1 82900 1.20627E-5 41450 0 3.41978E-5
X-63413121-C-T p.Ala16Thr missense AMER1 1 82842 1.20712E-5 41421 0 5.45286E-6
X-63413130-C-T p.Gly13Arg missense AMER1 3 82738 3.6259E-5 41369 1 5.45348E-6
X-63413152-C-T p.Lys5Lys synonymous AMER1 2 82290 2.43043E-5 41145 0 5.45819E-6
X-63413153-T-G p.Lys5Thr missense AMER1 2 82268 2.43108E-5 41134 1 2.28027E-5
X-63413158-G-C p.Thr3Thr synonymous AMER1 4 82098 4.87223E-5 41049 1 4.60554E-5
X-63413190-G-A c.-24C>T 5_prime_UTR_premature_start_codon_gain AMER1 19 80562 2.35843E-4 40281 4 1.2566E-4
X-63413231-T-C c.-65A>G 5_prime_UTR_premature_start_codon_gain AMER1 3 75618 3.96731E-5 37809 1 NA
X-63413248-A-C c.-82T>G 5_prime_UTR_premature_start_codon_gain AMER1 28 71752 3.90233E-4 35876 5 3.19197E-4
X-63413266-T-TG c.-98-3_-98-2insC splice_region AMER1 2 67288 2.9723E-5 33644 1 NA
X-63413268-G-T c.-98-4C>A splice_region AMER1 1 66662 1.50011E-5 33331 0 NA