Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-131519621-C-T c.-19-6C>T splice_region AMER3 1 76594 1.30559E-5 38297 0 6.37024E-5
2-131519623-A-G c.-19-4A>G splice_region AMER3 1 76566 1.30606E-5 38283 0 4.35529E-6
2-131519650-A-T p.Glu2Val missense AMER3 1 77068 1.29756E-5 38534 0 NA
2-131519657-G-A p.Lys4Lys synonymous AMER3 1 77286 1.2939E-5 38643 0 1.2428E-5
2-131519659-G-C p.Arg5Thr missense AMER3 2 77350 2.58565E-5 38675 0 6.88294E-5
2-131519666-G-GACC p.Thr8dup conservative_inframe_insertion AMER3 1 77618 1.28836E-5 38809 0 NA
2-131519696-C-T p.Ser17Ser synonymous AMER3 12 78468 1.52929E-4 39234 0 0.00375
2-131519699-C-T p.His18His synonymous AMER3 2 78514 2.54732E-5 39257 0 1.65052E-4
2-131519705-A-G p.Lys20Lys synonymous AMER3 2 78624 2.54375E-5 39312 0 1.67063E-5
2-131519707-C-T p.Pro21Leu missense AMER3 2 78802 2.53801E-5 39401 0 0.00302725
2-131519708-C-G p.Pro21Pro synonymous AMER3 1 78840 1.26839E-5 39420 0 4.16316E-6
2-131519714-C-T p.Asp23Asp synonymous AMER3 13 78916 1.64732E-4 39458 0 1.91144E-4
2-131519731-C-T p.Ala29Val missense AMER3 13 79092 1.64366E-4 39546 0 9.56023E-5
2-131519733-G-C p.Ala30Pro missense AMER3 2 79098 2.52851E-5 39549 0 NA
2-131519742-G-A p.Gly33Arg missense AMER3 30 79226 3.78664E-4 39613 0 8.28606E-4
2-131519746-C-A p.Thr34Lys missense AMER3 1 79172 1.26307E-5 39586 0 4.46859E-6
2-131519749-G-T p.Gly35Val missense AMER3 1 79144 1.26352E-5 39572 0 1.58008E-5
2-131519754-T-C p.Trp37Arg missense AMER3 1 79240 1.26199E-5 39620 0 NA
2-131519760-G-A p.Val39Ile missense AMER3 1 79270 1.26151E-5 39635 0 NA
2-131519765-T-A p.Leu40Leu synonymous AMER3 1 79206 1.26253E-5 39603 0 NA
2-131519766-C-G p.Pro41Ala missense AMER3 5 79230 6.31074E-5 39615 0 9.55962E-5
2-131519772-G-A p.Gly43Arg missense AMER3 4 79266 5.0463E-5 39633 0 6.37227E-5
2-131519774-G-T p.Gly43Gly synonymous AMER3 4 79216 5.04949E-5 39608 0 2.99443E-5
2-131519776-A-G p.Gln44Arg missense AMER3 4 79236 5.04821E-5 39618 0 1.97847E-5
2-131519789-C-G p.His48Gln missense AMER3 2 79226 2.52442E-5 39613 0 NA
2-131519800-G-C p.Gly52Ala missense AMER3 2 79114 2.528E-5 39557 0 2.27448E-5
2-131519802-C-T p.Pro53Ser missense AMER3 13 79238 1.64063E-4 39619 0 3.18674E-5
2-131519802-C-A p.Pro53Thr missense AMER3 1 79240 1.26199E-5 39620 0 NA
2-131519806-A-C p.Gln54Pro missense AMER3 1 79284 1.26129E-5 39642 0 5.26848E-6
2-131519828-A-G p.Glu61Glu synonymous AMER3 4 79476 5.03297E-5 39738 0 1.05414E-5
2-131519831-C-T p.Tyr62Tyr synonymous AMER3 4 79498 5.03157E-5 39749 0 6.37471E-5
2-131519832-G-A p.Asp63Asn missense AMER3 9 79518 1.13182E-4 39759 0 2.68528E-4
2-131519854-C-A p.Ala70Glu missense AMER3 4 79624 5.02361E-5 39812 0 8.25662E-5
2-131519854-C-T p.Ala70Val missense AMER3 1 79624 1.2559E-5 39812 0 8.25662E-5
2-131519855-G-A p.Ala70Ala synonymous AMER3 10 79646 1.25556E-4 39823 0 1.41368E-4
2-131519861-G-A p.Leu72Leu synonymous AMER3 2 79766 2.50733E-5 39883 0 NA
2-131519876-A-T p.Gly77Gly synonymous AMER3 8 79712 1.00361E-4 39856 0 0.00138054
2-131519879-C-T p.Pro78Pro synonymous AMER3 3 79656 3.76619E-5 39828 0 3.18715E-5
2-131519880-G-A p.Ala79Thr missense AMER3 1 79672 1.25515E-5 39836 0 3.12188E-5
2-131519898-A-G p.Thr85Ala missense AMER3 14 79620 1.75835E-4 39810 0 0.0014177
2-131519908-C-T p.Pro88Leu missense AMER3 2 79660 2.51067E-5 39830 0 7.05086E-5
2-131519909-G-A p.Pro88Pro synonymous AMER3 13 79640 1.63235E-4 39820 0 5.03525E-4
2-131519914-G-A p.Arg90Gln missense AMER3 2 79662 2.51061E-5 39831 0 8.87784E-5
2-131519919-T-C p.Cys92Arg missense AMER3 1 79684 1.25496E-5 39842 0 NA
2-131519925-A-T p.Thr94Ser missense AMER3 3 79744 3.76204E-5 39872 0 NA
2-131519930-C-T p.His95His synonymous AMER3 1 79800 1.25313E-5 39900 0 NA
2-131519931-G-A p.Asp96Asn missense AMER3 5 79820 6.26409E-5 39910 0 4.12113E-5
2-131519936-CATG-C p.Met98del conservative_inframe_deletion AMER3 2 79888 2.5035E-5 39944 0 NA
2-131519941-C-A p.Ser99Tyr missense AMER3 1 79916 1.25131E-5 39958 0 1.96525E-5
2-131519946-G-A p.Ala101Thr missense AMER3 1 79800 1.25313E-5 39900 0 NA
2-131519947-C-A p.Ala101Glu missense AMER3 2 79866 2.50419E-5 39933 0 NA
2-131519951-C-A p.Gly102Gly synonymous AMER3 2 79860 2.50438E-5 39930 0 1.67666E-5
2-131519959-C-T p.Thr105Met missense AMER3 1 79118 1.26393E-5 39559 0 1.68491E-5
2-131519969-A-G p.Thr108Thr synonymous AMER3 8 79736 1.00331E-4 39868 0 4.41621E-4
2-131519975-G-T p.Gln110His missense AMER3 29 79896 3.62972E-4 39948 0 0.004375
2-131519981-G-A p.Val112Val synonymous AMER3 1 80178 1.24722E-5 40089 0 NA
2-131519987-T-C p.Ser114Ser synonymous AMER3 1 80266 1.24586E-5 40133 0 1.23528E-5
2-131519996-C-T p.Phe117Phe synonymous AMER3 249 80566 0.00309063 40283 3 0.0036016
2-131519998-C-T p.Pro118Leu missense AMER3 1 80602 1.24066E-5 40301 0 3.18796E-5
2-131519999-G-A p.Pro118Pro synonymous AMER3 2 80644 2.48004E-5 40322 0 3.28415E-5
2-131520007-C-T p.Pro121Leu missense AMER3 2 80846 2.47384E-5 40423 0 1.77368E-5
2-131520008-G-C p.Pro121Pro synonymous AMER3 14 80810 1.73246E-4 40405 0 2.23143E-4
2-131520008-G-A p.Pro121Pro synonymous AMER3 2 80810 2.47494E-5 40405 0 2.03363E-4
2-131520011-C-A p.Gly122Gly synonymous AMER3 2 80856 2.47353E-5 40428 0 4.07884E-6
2-131520015-C-T p.Arg124Trp missense AMER3 13 80988 1.60518E-4 40494 0 4.3832E-5
2-131520016-G-A p.Arg124Gln missense AMER3 2 81034 2.4681E-5 40517 0 5.04541E-4
2-131520019-G-A p.Arg125His missense AMER3 1 81194 1.23162E-5 40597 0 2.60833E-5
2-131520026-C-T p.Ile127Ile synonymous AMER3 2 81500 2.45399E-5 40750 0 6.06095E-5
2-131520033-C-T p.Arg130Cys missense AMER3 3 81784 3.6682E-5 40892 0 2.81813E-5
2-131520034-G-A p.Arg130His missense AMER3 4 81798 4.8901E-5 40899 0 1.08732E-4
2-131520045-C-G p.Pro134Ala missense AMER3 5 82002 6.09741E-5 41001 0 4.24499E-5
2-131520059-T-C p.Phe138Phe synonymous AMER3 1 82378 1.21392E-5 41189 0 NA
2-131520076-A-G p.Lys144Arg missense AMER3 9 82602 1.08956E-4 41301 0 4.4091E-5
2-131520078-A-G p.Ser145Gly missense AMER3 1 82634 1.21016E-5 41317 0 4.00789E-6
2-131520081-A-G p.Ile146Val missense AMER3 1 82686 1.20939E-5 41343 0 1.60291E-5
2-131520086-G-A p.Pro147Pro synonymous AMER3 3 82764 3.62476E-5 41382 0 1.84691E-4
2-131520089-G-C p.Arg148Ser missense AMER3 1 82792 1.20785E-5 41396 0 NA
2-131520106-A-G p.Lys154Arg missense AMER3 8 82928 9.64692E-5 41464 0 1.50416E-4
2-131520127-G-A p.Arg161Gln missense AMER3 1 82894 1.20636E-5 41447 0 3.18654E-5
2-131520145-G-A p.Arg167Gln missense AMER3 2 82858 2.41377E-5 41429 0 1.59449E-4
2-131520158-T-C p.Thr171Thr synonymous AMER3 8 82800 9.66184E-5 41400 0 4.79306E-5
2-131520162-G-A p.Asp173Asn missense AMER3 1 82764 1.20825E-5 41382 0 NA
2-131520169-C-G p.Ala175Gly missense AMER3 3 82682 3.62836E-5 41341 0 8.3724E-6
2-131520169-C-T p.Ala175Val missense AMER3 1 82682 1.20945E-5 41341 0 NA
2-131520171-T-A p.Ser176Thr missense AMER3 3 82648 3.62985E-5 41324 0 NA
2-131520172-C-G p.Ser176Trp missense AMER3 1 82632 1.21018E-5 41316 0 8.38097E-6
2-131520172-C-T p.Ser176Leu missense AMER3 1 82632 1.21018E-5 41316 0 3.35239E-5
2-131520173-G-A p.Ser176Ser synonymous AMER3 6 82600 7.26392E-5 41300 0 1.0896E-4
2-131520174-C-A p.Leu177Met missense AMER3 1 82602 1.21062E-5 41301 0 NA
2-131520178-C-G p.Ala178Gly missense AMER3 13326 81764 0.162981 40882 1182 0.191843
2-131520179-G-A p.Ala178Ala synonymous AMER3 1 82550 1.21139E-5 41275 0 3.18939E-5
2-131520183-G-A p.Glu180Lys missense AMER3 60 82464 7.2759E-4 41232 0 0.00151057
2-131520187-G-A p.Gly181Glu missense AMER3 13 82424 1.57721E-4 41212 0 5.38702E-4
2-131520194-C-G p.Ser183Arg missense AMER3 1 82366 1.21409E-5 41183 0 8.43626E-6
2-131520202-C-A p.Ser186Tyr missense AMER3 1 82318 1.2148E-5 41159 0 NA
2-131520209-G-A p.Gly188Gly synonymous AMER3 1 82214 1.21634E-5 41107 0 3.63108E-5
2-131520230-G-A p.Gly195Gly synonymous AMER3 3 81900 3.663E-5 40950 0 3.19142E-5
2-131520231-C-T p.Arg196Trp missense AMER3 3 81832 3.66605E-5 40916 0 3.19816E-5
2-131520232-G-A p.Arg196Gln missense AMER3 59 81844 7.20884E-4 40922 0 4.47141E-4
2-131520234-C-T p.Arg197* stop_gained AMER3 1 81722 1.22366E-5 40861 0 NA
2-131520235-G-A p.Arg197Gln missense AMER3 1 81766 1.223E-5 40883 0 6.38447E-5
2-131520242-A-G p.Lys199Lys synonymous AMER3 2 81744 2.44666E-5 40872 0 NA
2-131520245-C-T p.Ala200Ala synonymous AMER3 268 81678 0.00328118 40839 2 0.00632144
2-131520246-T-C p.Phe201Leu missense AMER3 2 81690 2.44828E-5 40845 0 NA
2-131520254-C-G p.Pro203Pro synonymous AMER3 8 81500 9.81595E-5 40750 0 0.00125471
2-131520255-C-G p.Pro204Ala missense AMER3 6 81468 7.36486E-5 40734 0 3.82971E-4
2-131520256-C-T p.Pro204Leu missense AMER3 34 81374 4.17824E-4 40687 0 4.46942E-4
2-131520257-G-A p.Pro204Pro synonymous AMER3 11 81426 1.35092E-4 40713 0 1.5355E-4
2-131520259-G-C p.Gly205Ala missense AMER3 1 81378 1.22883E-5 40689 0 NA
2-131520265-G-A p.Gly207Glu missense AMER3 1 81252 1.23074E-5 40626 0 NA
2-131520266-G-A p.Gly207Gly synonymous AMER3 1 81210 1.23138E-5 40605 0 1.70393E-5
2-131520268-C-T p.Pro208Leu missense AMER3 1 81168 1.23201E-5 40584 0 6.38407E-5
2-131520269-G-A p.Pro208Pro synonymous AMER3 14 81236 1.72337E-4 40618 0 1.37761E-4
2-131520271-G-A p.Gly209Glu missense AMER3 1 81250 1.23077E-5 40625 0 NA
2-131520276-G-A p.Asp211Asn missense AMER3 1 81226 1.23113E-5 40613 0 NA
2-131520277-A-G p.Asp211Gly missense AMER3 1 81214 1.23131E-5 40607 0 NA
2-131520278-C-T p.Asp211Asp synonymous AMER3 2 81196 2.46318E-5 40598 0 6.25E-4
2-131520279-G-A p.Gly212Ser missense AMER3 1 81144 1.23238E-5 40572 0 1.61602E-5
2-131520280-G-A p.Gly212Asp missense AMER3 1 81202 1.2315E-5 40601 0 1.69615E-5
2-131520284-G-A p.Leu213Leu synonymous AMER3 1 81284 1.23025E-5 40642 0 3.63146E-5
2-131520287-C-A p.Cys214* stop_gained AMER3 1 81320 1.22971E-5 40660 0 NA
2-131520293-C-T p.Asp216Asp synonymous AMER3 2 81450 2.45549E-5 40725 0 NA
2-131520296-G-A p.Leu217Leu synonymous AMER3 1 81546 1.2263E-5 40773 0 NA
2-131520297-T-G p.Leu218Val missense AMER3 4 81530 4.90617E-5 40765 0 5.03525E-4
2-131520301-A-G p.Asp219Gly missense AMER3 16 81512 1.9629E-4 40756 0 1.26484E-4
2-131520305-C-T p.Ser220Ser synonymous AMER3 2 81418 2.45646E-5 40709 0 8.05854E-6
2-131520317-C-T p.Ala224Ala synonymous AMER3 1 81834 1.22199E-5 40917 0 1.68093E-5
2-131520318-G-A p.Asp225Asn missense AMER3 3 81906 3.66274E-5 40953 0 2.5194E-5
2-131520333-C-T p.Leu230Phe missense AMER3 1 82320 1.21477E-5 41160 0 4.18887E-5
2-131520333-C-A p.Leu230Ile missense AMER3 1 82320 1.21477E-5 41160 0 NA
2-131520338-C-T p.Cys231Cys synonymous AMER3 1 82354 1.21427E-5 41177 0 NA
2-131520356-C-T p.Asp237Asp synonymous AMER3 1 82586 1.21086E-5 41293 0 8.35967E-6
2-131520374-C-T p.Ser243Ser synonymous AMER3 1 82740 1.20861E-5 41370 0 NA
2-131520377-C-T p.Phe244Phe synonymous AMER3 3 82738 3.6259E-5 41369 0 2.7998E-5
2-131520378-G-A p.Asp245Asn missense AMER3 1 82746 1.20852E-5 41373 0 2.50138E-5
2-131520383-G-A p.Ser246Ser synonymous AMER3 5 82754 6.042E-5 41377 0 2.39925E-5
2-131520386-C-A p.Leu247Leu synonymous AMER3 1 82788 1.2079E-5 41394 0 NA
2-131520389-G-A p.Thr248Thr synonymous AMER3 23 82776 2.77858E-4 41388 0 0.00100705
2-131520402-G-A p.Val253Met missense AMER3 3 82760 3.62494E-5 41380 0 5.82246E-5
2-131520408-G-A p.Ala255Thr missense AMER3 2 82724 2.41768E-5 41362 0 6.37755E-5
2-131520410-A-G p.Ala255Ala synonymous AMER3 1 82744 1.20855E-5 41372 0 NA
2-131520419-C-A p.Ser258Arg missense AMER3 1 82678 1.20951E-5 41339 0 1.6002E-5
2-131520422-G-A p.Ser259Ser synonymous AMER3 2 82638 2.42019E-5 41319 0 3.18959E-5
2-131520426-C-T p.Pro261Ser missense AMER3 1 82610 1.21051E-5 41305 0 8.32584E-6
2-131520431-T-C p.Ser262Ser synonymous AMER3 273 82634 0.00330372 41317 2 0.00654582
2-131520437-G-C p.Glu264Asp missense AMER3 1 82590 1.2108E-5 41295 0 4.00455E-6
2-131520442-A-G p.Asn266Ser missense AMER3 1 82500 1.21212E-5 41250 0 4.0068E-6
2-131520443-C-T p.Asn266Asn synonymous AMER3 5 82480 6.06208E-5 41240 0 1.27649E-4
2-131520451-C-T p.Pro269Leu missense AMER3 2 82306 2.42996E-5 41153 0 3.34448E-5
2-131520452-G-A p.Pro269Pro synonymous AMER3 4 82310 4.85968E-5 41155 0 2.1738E-4
2-131520462-A-G p.Thr273Ala missense AMER3 1 82164 1.21708E-5 41082 0 4.01545E-6
2-131520463-C-G p.Thr273Ser missense AMER3 1 82194 1.21663E-5 41097 0 NA
2-131520487-G-A p.Ser281Asn missense AMER3 2 82006 2.43885E-5 41003 0 6.37755E-5
2-131520497-C-T p.Pro284Pro synonymous AMER3 3 82006 3.65827E-5 41003 0 8.40251E-6
2-131520500-G-A p.Arg285Arg synonymous AMER3 1 81976 1.21987E-5 40988 0 4.0234E-6
2-131520505-C-T p.Pro287Leu missense AMER3 1 82012 1.21933E-5 41006 0 4.2021E-5
2-131520509-C-T p.Leu288Leu synonymous AMER3 1 81976 1.21987E-5 40988 0 NA
2-131520517-G-T p.Ser291Ile missense AMER3 2 82008 2.43879E-5 41004 0 NA
2-131520522-G-C p.Glu293Gln missense AMER3 1 81990 1.21966E-5 40995 0 NA
2-131520535-C-T p.Ser297Leu missense AMER3 4 82034 4.87603E-5 41017 0 8.40675E-6
2-131520536-G-A p.Ser297Ser synonymous AMER3 1 81958 1.22014E-5 40979 0 6.38407E-5
2-131520538-C-G p.Pro298Arg missense AMER3 1 82006 1.21942E-5 41003 0 NA
2-131520539-C-A p.Pro298Pro synonymous AMER3 1 82006 1.21942E-5 41003 0 NA
2-131520539-C-T p.Pro298Pro synonymous AMER3 2 82006 2.43885E-5 41003 0 2.01065E-5
2-131520540-G-T p.Ala299Ser missense AMER3 1 81960 1.22011E-5 40980 0 NA
2-131520541-C-T p.Ala299Val missense AMER3 2 82034 2.43801E-5 41017 0 6.43097E-5
2-131520552-GC-TT p.Ala303Phe missense AMER3 1 82212 1.21637E-5 41106 0 NA
2-131520553-C-T p.Ala303Val missense AMER3 1 82220 1.21625E-5 41110 0 6.71423E-5
2-131520560-C-G p.Asp305Glu missense AMER3 1 82324 1.21471E-5 41162 0 NA
2-131520563-C-T p.Phe306Phe synonymous AMER3 1 82344 1.21442E-5 41172 0 NA
2-131520588-C-T p.Arg315Cys missense AMER3 2 82446 2.42583E-5 41223 0 1.67395E-5
2-131520590-C-T p.Arg315Arg synonymous AMER3 3 82468 3.63777E-5 41234 0 1.67305E-5
2-131520594-G-A p.Val317Met missense AMER3 5 82512 6.05972E-5 41256 0 3.59807E-5
2-131520598-G-A p.Arg318His missense AMER3 13 82506 1.57564E-4 41253 0 3.19203E-4
2-131520599-TCAG-T p.Gln321del disruptive_inframe_deletion AMER3 2 82512 2.42389E-5 41256 0 8.36218E-6
2-131520602-G-A p.Gln319Gln synonymous AMER3 1 82522 1.2118E-5 41261 0 NA
2-131520603-C-G p.Gln320Glu missense AMER3 3 82516 3.63566E-5 41258 0 3.19366E-5
2-131520610-G-A p.Arg322His missense AMER3 3 82530 3.63504E-5 41265 0 5.0132E-5
2-131520614-C-T p.Ala323Ala synonymous AMER3 2 82554 2.42266E-5 41277 0 NA
2-131520615-C-T p.Leu324Phe missense AMER3 1 82560 1.21124E-5 41280 0 3.99511E-6
2-131520617-C-T p.Leu324Leu synonymous AMER3 4 82550 4.84555E-5 41275 0 0.00100705
2-131520625-C-T p.Pro327Leu missense AMER3 1 82504 1.21206E-5 41252 0 0.003125
2-131520626-G-A p.Pro327Pro synonymous AMER3 1 82518 1.21186E-5 41259 0 8.35199E-6
2-131520640-C-T p.Pro332Leu missense AMER3 4 82428 4.85272E-5 41214 0 9.57426E-5
2-131520643-A-G p.Gln333Arg missense AMER3 3 82428 3.63954E-5 41214 1 NA
2-131520644-G-A p.Gln333Gln synonymous AMER3 2 82444 2.42589E-5 41222 0 3.25613E-4
2-131520646-G-T p.Gly334Val missense AMER3 5 82432 6.06561E-5 41216 0 1.19902E-5
2-131520654-A-G p.Arg337Gly missense AMER3 1 82394 1.21368E-5 41197 0 NA
2-131520663-T-C p.Ser340Pro missense AMER3 79700 81794 0.974399 40897 38835 0.98625
2-131520666-C-T p.Arg341Trp missense AMER3 5 82266 6.07784E-5 41133 0 1.00062E-4
2-131520667-G-A p.Arg341Gln missense AMER3 9 82232 1.09446E-4 41116 0 7.59708E-5
2-131520672-G-C p.Asp343His missense AMER3 10 82274 1.21545E-4 41137 0 7.59635E-5
2-131520678-G-T p.Ala345Ser missense AMER3 58 82260 7.05081E-4 41130 0 0.00151057
2-131520686-C-T p.Leu347Leu synonymous AMER3 33 82220 4.01362E-4 41110 0 6.25E-4
2-131520687-G-A p.Ala348Thr missense AMER3 2 82182 2.43362E-5 41091 0 2.09254E-4
2-131520715-A-G p.Asp357Gly missense AMER3 2 82488 2.4246E-5 41244 0 NA
2-131520720-C-T p.Arg359Cys missense AMER3 3 82548 3.63425E-5 41274 0 3.99645E-6
2-131520720-C-G p.Arg359Gly missense AMER3 1 82548 1.21142E-5 41274 0 3.99645E-6
2-131520721-G-C p.Arg359Pro missense AMER3 1 82550 1.21139E-5 41275 0 8.35785E-6
2-131520725-C-T p.Ser360Ser synonymous AMER3 6 82634 7.26093E-5 41317 0 3.59603E-5
2-131520726-G-A p.Gly361Ser missense AMER3 1 82668 1.20966E-5 41334 0 3.19081E-5
2-131520739-G-A p.Ser365Asn missense AMER3 2 82768 2.41639E-5 41384 0 6.37959E-5
2-131520740-C-T p.Ser365Ser synonymous AMER3 5 82782 6.03996E-5 41391 0 8.33458E-6
2-131520751-C-T p.Thr369Ile missense AMER3 4 82872 4.82672E-5 41436 0 3.32928E-5
2-131520752-A-G p.Thr369Thr synonymous AMER3 1 82878 1.20659E-5 41439 0 NA
2-131520766-G-A p.Ser374Asn missense AMER3 1 82924 1.20592E-5 41462 0 3.9834E-6
2-131520767-C-T p.Ser374Ser synonymous AMER3 5 82922 6.02976E-5 41461 0 3.18796E-5
2-131520768-G-C p.Glu375Gln missense AMER3 1 82942 1.20566E-5 41471 0 NA
2-131520775-C-T p.Pro377Leu missense AMER3 1 82970 1.20525E-5 41485 0 7.96483E-6
2-131520776-C-T p.Pro377Pro synonymous AMER3 5 82978 6.02569E-5 41489 0 1.59398E-4
2-131520777-G-A p.Glu378Lys missense AMER3 5 82990 6.02482E-5 41495 0 9.55962E-5
2-131520783-G-A p.Val380Met missense AMER3 2 83002 2.40958E-5 41501 0 8.30124E-6
2-131520793-G-A p.Ser383Asn missense AMER3 1 83038 1.20427E-5 41519 0 NA
2-131520797-C-T p.Asp384Asp synonymous AMER3 7 83024 8.4313E-5 41512 0 6.25E-4
2-131520807-T-C p.Tyr388His missense AMER3 1 83040 1.20424E-5 41520 0 NA
2-131520815-C-G p.Ser390Ser synonymous AMER3 1 83056 1.20401E-5 41528 0 8.29064E-6
2-131520820-C-T p.Ser392Leu missense AMER3 1 83056 1.20401E-5 41528 0 3.18837E-5
2-131520821-G-A p.Ser392Ser synonymous AMER3 1 83048 1.20412E-5 41524 0 2.38846E-5
2-131520828-C-T p.Leu395Phe missense AMER3 23 83058 2.76915E-4 41529 0 5.03525E-4
2-131520841-A-G p.Lys399Arg missense AMER3 1 83044 1.20418E-5 41522 0 3.18715E-5
2-131520850-C-A p.Ala402Asp missense AMER3 3 83026 3.61333E-5 41513 0 4.9762E-5
2-131520856-G-A p.Ser404Asn missense AMER3 1 82978 1.20514E-5 41489 0 NA
2-131520857-C-A p.Ser404Arg missense AMER3 2 82966 2.41063E-5 41483 0 6.25E-4
2-131520871-C-T p.Ala409Val missense AMER3 1 82952 1.20552E-5 41476 0 NA
2-131520873-G-A p.Ala410Thr missense AMER3 5 82940 6.02845E-5 41470 0 6.37344E-5
2-131520886-G-A p.Arg414Gln missense AMER3 1 82828 1.20732E-5 41414 0 1.66149E-5
2-131520893-C-T p.Ser416Ser synonymous AMER3 1 82832 1.20726E-5 41416 0 1.59328E-5
2-131520895-A-G p.Tyr417Cys missense AMER3 4 82792 4.83138E-5 41396 0 8.3138E-6
2-131520896-C-T p.Tyr417Tyr synonymous AMER3 2 82782 2.41598E-5 41391 0 1.99187E-5
2-131520905-C-T p.Asp420Asp synonymous AMER3 5 82656 6.04917E-5 41328 0 7.49238E-5
2-131520911-C-G p.Leu422Leu synonymous AMER3 1 82642 1.21004E-5 41321 0 NA
2-131520914-C-T p.Tyr423Tyr synonymous AMER3 1 82604 1.2106E-5 41302 0 3.18735E-5
2-131520915-G-A p.Glu424Lys missense AMER3 2 82582 2.42184E-5 41291 0 1.99445E-5
2-131520926-C-T p.His427His synonymous AMER3 3 82450 3.63857E-5 41225 0 1.59701E-5
2-131520931-C-T p.Pro429Leu missense AMER3 1 82468 1.21259E-5 41234 0 4.38989E-5
2-131520935-C-T p.Ser430Ser synonymous AMER3 61 82402 7.40273E-4 41201 1 0.00289438
2-131520936-G-A p.Glu431Lys missense AMER3 1 82420 1.2133E-5 41210 0 3.18634E-5
2-131520939-G-A p.Gly432Ser missense AMER3 3 82428 3.63954E-5 41214 0 2.17562E-4
2-131520942-C-T p.Pro433Ser missense AMER3 74 82402 8.98036E-4 41201 3 0.00260768
2-131520945-C-G p.Leu434Val missense AMER3 3475 82394 0.0421754 41197 136 0.0629406
2-131520959-A-C p.Pro438Pro synonymous AMER3 6 82440 7.27802E-5 41220 0 3.18776E-4
2-131520968-C-T p.Asp441Asp synonymous AMER3 94 82502 0.00113937 41251 0 5.11668E-4
2-131520969-C-T p.Leu442Leu synonymous AMER3 1 82516 1.21189E-5 41258 0 8.40774E-6
2-131520974-C-T p.Cys443Cys synonymous AMER3 10 82514 1.21192E-4 41257 0 9.25023E-5
2-131520975-G-A p.Val444Met missense AMER3 5 82524 6.05884E-5 41262 0 5.03525E-4
2-131520986-T-C p.Ser447Ser synonymous AMER3 1 82532 1.21165E-5 41266 0 NA
2-131520997-C-T p.Pro451Leu missense AMER3 2 82464 2.4253E-5 41232 0 3.18796E-5
2-131520998-G-A p.Pro451Pro synonymous AMER3 2 82494 2.42442E-5 41247 0 3.18796E-5
2-131521009-C-T p.Thr455Met missense AMER3 1 82504 1.21206E-5 41252 0 4.00676E-6
2-131521010-G-A p.Thr455Thr synonymous AMER3 2 82478 2.42489E-5 41239 0 3.20549E-5
2-131521033-G-A p.Arg463Gln missense AMER3 2 82454 2.42559E-5 41227 0 6.37349E-5
2-131521043-C-T p.Ala466Ala synonymous AMER3 1 82276 1.21542E-5 41138 0 3.18837E-5
2-131521044-G-A p.Glu467Lys missense AMER3 2 82298 2.43019E-5 41149 0 1.20592E-5
2-131521053-T-C p.Leu470Leu synonymous AMER3 1 82218 1.21628E-5 41109 0 3.18756E-5
2-131521072-C-T p.Pro476Leu missense AMER3 1 82026 1.21913E-5 41013 0 NA
2-131521080-C-T p.Leu479Phe missense AMER3 3 81852 3.66515E-5 40926 0 3.49156E-5
2-131521084-G-A p.Ser480Asn missense AMER3 6 81806 7.33443E-5 40903 0 1.0497E-4
2-131521097-A-G p.Leu484Leu synonymous AMER3 1 81474 1.22739E-5 40737 0 3.18735E-5
2-131521111-A-G p.Lys489Arg missense AMER3 1 81042 1.23393E-5 40521 0 NA
2-131521143-A-T p.Thr500Ser missense AMER3 5 79394 6.29771E-5 39697 0 1.27543E-4
2-131521152-G-GGGCA p.Ala503fs frameshift AMER3 1 78520 1.27356E-5 39260 0 NA
2-131521152-G-A p.Ala503Thr missense AMER3 2 78520 2.54712E-5 39260 0 0.00125
2-131521156-T-TGG p.Ile504fs frameshift AMER3 1 78416 1.27525E-5 39208 0 NA
2-131521162-T-C p.Met506Thr missense AMER3 1 78166 1.27933E-5 39083 0 NA
2-131521169-C-G p.Ile508Met missense AMER3 1 77500 1.29032E-5 38750 0 1.25682E-5
2-131521170-G-A p.Val509Ile missense AMER3 3 77394 3.87627E-5 38697 0 1.89662E-4
2-131521175-C-G p.Ser510Arg missense AMER3 1 76938 1.29975E-5 38469 0 NA
2-131521182-C-T p.Arg513Cys missense AMER3 9 75946 1.18505E-4 37973 0 5.36557E-5
2-131521183-G-A p.Arg513His missense AMER3 6 75782 7.91745E-5 37891 0 6.25E-4
2-131521186-G-A p.Arg514Gln missense AMER3 2 75590 2.64585E-5 37795 0 0.00254842
2-131521189-GC-TT p.Gly515Val missense AMER3 7 75140 9.31594E-5 37570 0 NA
2-131521195-C-T p.Thr517Met missense AMER3 4 75090 5.32694E-5 37545 0 3.47584E-5
2-131521195-C-A p.Thr517Lys missense AMER3 1 75090 1.33174E-5 37545 0 NA
2-131521196-G-A p.Thr517Thr synonymous AMER3 7 74558 9.38866E-5 37279 0 5.15883E-5
2-131521201-G-A p.Arg519His missense AMER3 1 74064 1.35018E-5 37032 0 0.00154959
2-131521206-C-A p.Pro521Thr missense AMER3 14 74536 1.87829E-4 37268 0 0.00256937
2-131521206-C-T p.Pro521Ser missense AMER3 2 74536 2.68327E-5 37268 0 5.0746E-5
2-131521210-C-G p.Pro522Arg missense AMER3 1 74300 1.34589E-5 37150 0 7.05069E-6
2-131521215-C-G p.Pro524Ala missense AMER3 1 74454 1.34311E-5 37227 0 7.52899E-6
2-131521216-C-T p.Pro524Leu missense AMER3 4 74524 5.3674E-5 37262 0 5.14933E-4
2-131521231-C-G p.Ala529Gly missense AMER3 1 73786 1.35527E-5 36893 0 3.19244E-5
2-131521235-A-G p.Pro530Pro synonymous AMER3 2 73798 2.7101E-5 36899 0 1.26646E-4
2-131521239-G-C p.Gly532Arg missense AMER3 1 73974 1.35183E-5 36987 0 NA
2-131521249-G-A p.Gly535Glu missense AMER3 1 73762 1.35571E-5 36881 0 7.12718E-6
2-131521259-G-C p.Arg538Ser missense AMER3 1 73618 1.35836E-5 36809 0 NA
2-131521277-G-A p.Leu544Leu synonymous AMER3 1 74338 1.34521E-5 37169 0 1.17994E-4
2-131521281-G-A p.Gly546Ser missense AMER3 1 74406 1.34398E-5 37203 0 5.55864E-6
2-131521297-C-T p.Ala551Val missense AMER3 1 75760 1.31996E-5 37880 0 NA
2-131521298-C-G p.Ala551Ala synonymous AMER3 1 75998 1.31582E-5 37999 0 3.1953E-5
2-131521302-G-T p.Asp553Tyr missense AMER3 1 76410 1.30873E-5 38205 0 NA
2-131521309-G-C p.Gly555Ala missense AMER3 1 77216 1.29507E-5 38608 0 5.04032E-4
2-131521311-G-T p.Gly556Trp missense AMER3 1 77274 1.2941E-5 38637 0 NA
2-131521313-G-T p.Gly556Gly synonymous AMER3 31 77266 4.01211E-4 38633 0 0.00249339
2-131521314-G-A p.Ala557Thr missense AMER3 2 77210 2.59034E-5 38605 0 6.38244E-5
2-131521315-C-T p.Ala557Val missense AMER3 1 77194 1.29544E-5 38597 0 9.09248E-6
2-131521318-C-G p.Thr558Arg missense AMER3 1 78052 1.2812E-5 39026 0 NA
2-131521320-G-T p.Val559Phe missense AMER3 2 78452 2.54933E-5 39226 0 NA
2-131521323-T-G p.Cys560Gly missense AMER3 11 78682 1.39803E-4 39341 0 5.7024E-5
2-131521324-G-A p.Cys560Tyr missense AMER3 2 78732 2.54026E-5 39366 0 3.19061E-5
2-131521325-C-T p.Cys560Cys synonymous AMER3 14 78826 1.77606E-4 39413 0 6.70156E-4
2-131521331-A-G p.Ala562Ala synonymous AMER3 2 79194 2.52544E-5 39597 0 2.027E-5
2-131521331-A-C p.Ala562Ala synonymous AMER3 1 79194 1.26272E-5 39597 0 1.27927E-5
2-131521337-C-T p.Ser564Ser synonymous AMER3 1 79584 1.25653E-5 39792 0 6.85374E-5
2-131521338-AGGCAGGAGCTGT-A p.Gln566_Trp569del conservative_inframe_deletion AMER3 1 79724 1.25433E-5 39862 0 NA
2-131521344-G-A p.Glu567Lys missense AMER3 1 79920 1.25125E-5 39960 0 9.44251E-6
2-131521346-G-C p.Glu567Asp missense AMER3 1 80058 1.24909E-5 40029 0 9.38069E-6
2-131521349-G-A p.Leu568Leu synonymous AMER3 1 80238 1.24629E-5 40119 0 9.27472E-6
2-131521360-C-T p.Pro572Leu missense AMER3 1 80618 1.24042E-5 40309 0 9.04404E-6
2-131521361-G-A p.Pro572Pro synonymous AMER3 2 80666 2.47936E-5 40333 0 1.79921E-5
2-131521365-A-G p.Thr574Ala missense AMER3 1 80850 1.23686E-5 40425 0 5.03525E-4
2-131521380-G-A p.Ala579Thr missense AMER3 7 81454 8.59381E-5 40727 0 6.37592E-5
2-131521382-C-T p.Ala579Ala synonymous AMER3 10 81668 1.22447E-4 40834 0 6.37674E-5
2-131521382-C-A p.Ala579Ala synonymous AMER3 15 81666 1.83675E-4 40833 0 8.78458E-4
2-131521382-C-G p.Ala579Ala synonymous AMER3 1 81668 1.22447E-5 40834 0 NA
2-131521383-G-A p.Gly580Arg missense AMER3 3 81716 3.67125E-5 40858 0 2.01209E-5
2-131521383-G-C p.Gly580Arg missense AMER3 1 81718 1.22372E-5 40859 0 4.02418E-6
2-131521384-G-A p.Gly580Glu missense AMER3 1 81816 1.22225E-5 40908 0 4.02143E-6
2-131521400-C-T p.Leu585Leu synonymous AMER3 1 82280 1.21536E-5 41140 0 2.40188E-5
2-131521401-G-A p.Gly586Arg missense AMER3 1 82314 1.21486E-5 41157 0 4.0008E-5
2-131521420-C-T p.Thr592Ile missense AMER3 1 82720 1.2089E-5 41360 0 NA
2-131521427-AC-A p.Leu595fs frameshift AMER3 1 82774 1.20811E-5 41387 0 NA
2-131521438-A-T p.Asp598Val missense AMER3 10 82904 1.20621E-4 41452 0 1.9144E-4
2-131521439-T-C p.Asp598Asp synonymous AMER3 1 82908 1.20616E-5 41454 0 NA
2-131521440-G-A p.Ala599Thr missense AMER3 3 82904 3.61864E-5 41452 0 1.66414E-5
2-131521441-C-T p.Ala599Val missense AMER3 3 82916 3.61812E-5 41458 0 3.82434E-4
2-131521446-C-T p.Arg601* stop_gained AMER3 2 82962 2.41074E-5 41481 0 3.98175E-6
2-131521451-G-A p.Glu602Glu synonymous AMER3 2 82998 2.4097E-5 41499 0 NA
2-131521457-G-A p.Glu604Glu synonymous AMER3 1 83022 1.2045E-5 41511 0 NA
2-131521462-G-A p.Arg606Gln missense AMER3 1 83028 1.20441E-5 41514 0 2.78611E-5
2-131521478-C-T p.Gly611Gly synonymous AMER3 1 83062 1.20392E-5 41531 0 5.03525E-4
2-131521484-C-T p.Phe613Phe synonymous AMER3 2 83084 2.4072E-5 41542 0 1.6573E-5
2-131521486-C-T p.Ser614Phe missense AMER3 1 83074 1.20375E-5 41537 0 NA
2-131521491-A-G p.Met616Val missense AMER3 1 83080 1.20366E-5 41540 0 NA
2-131521497-T-G p.Ser618Ala missense AMER3 2 83072 2.40755E-5 41536 0 NA
2-131521501-C-T p.Ala619Val missense AMER3 1 83098 1.2034E-5 41549 0 6.62866E-5
2-131521510-C-T p.Ser622Leu missense AMER3 5 83120 6.0154E-5 41560 0 2.48595E-5
2-131521514-A-G p.Thr623Thr synonymous AMER3 1 83124 1.20302E-5 41562 0 8.28926E-6
2-131521525-C-G p.Ser627Cys missense AMER3 1 83114 1.20317E-5 41557 0 3.98127E-6
2-131521527-G-A p.Gly628Ser missense AMER3 6 83114 7.219E-5 41557 0 6.37511E-5
2-131521528-G-C p.Gly628Ala missense AMER3 8 83122 9.62441E-5 41561 0 0.00151057
2-131521532-A-G p.Lys629Lys synonymous AMER3 3 83112 3.60959E-5 41556 0 NA
2-131521541-C-G p.Ala632Ala synonymous AMER3 1 83102 1.20334E-5 41551 0 NA
2-131521548-C-T p.Pro635Ser missense AMER3 1 83052 1.20406E-5 41526 0 NA
2-131521549-C-T p.Pro635Leu missense AMER3 2 83046 2.4083E-5 41523 0 NA
2-131521553-T-C p.Ser636Ser synonymous AMER3 1 83030 1.20438E-5 41515 0 1.99952E-5
2-131521556-C-T p.Thr637Thr synonymous AMER3 2 83018 2.40912E-5 41509 0 NA
2-131521565-C-T p.Cys640Cys synonymous AMER3 1 82960 1.2054E-5 41480 0 8.63886E-6
2-131521566-T-C p.Ser641Pro missense AMER3 1 82936 1.20575E-5 41468 0 NA
2-131521580-T-G p.Pro645Pro synonymous AMER3 2 82822 2.41482E-5 41411 0 3.18613E-5
2-131521587-C-G p.Pro648Ala missense AMER3 1 82832 1.20726E-5 41416 0 NA
2-131521591-G-A p.Gly649Glu missense AMER3 1 82810 1.20758E-5 41405 0 NA
2-131521592-G-A p.Gly649Gly synonymous AMER3 15 82798 1.81164E-4 41399 0 1.42885E-4
2-131521599-G-T p.Gly652Trp missense AMER3 1 82800 1.20773E-5 41400 0 NA
2-131521600-G-T p.Gly652Val missense AMER3 5 82798 6.03879E-5 41399 0 2.72094E-4
2-131521600-G-A p.Gly652Glu missense AMER3 1 82798 1.20776E-5 41399 0 4.06111E-6
2-131521609-G-A p.Arg655Gln missense AMER3 4 82754 4.8336E-5 41377 0 6.37471E-5
2-131521609-G-C p.Arg655Pro missense AMER3 10 82754 1.2084E-4 41377 0 3.19535E-4
2-131521613-C-T p.Gly656Gly synonymous AMER3 1 82756 1.20837E-5 41378 0 NA
2-131521614-C-T p.Pro657Ser missense AMER3 1 82774 1.20811E-5 41387 0 NA
2-131521617-T-C p.Trp658Arg missense AMER3 1 82754 1.2084E-5 41377 0 9.1416E-6
2-131521620-A-G p.Arg659Gly missense AMER3 4 82808 4.83045E-5 41404 0 9.56084E-5
2-131521626-G-C p.Gly661Arg missense AMER3 1 82846 1.20706E-5 41423 0 NA
2-131521631-C-T p.His662His synonymous AMER3 55 82800 6.64251E-4 41400 0 0.0017605
2-131521632-G-A p.Gly663Arg missense AMER3 5 82794 6.03908E-5 41397 0 3.69269E-5
2-131521640-C-CA p.Thr666fs frameshift AMER3 1 82742 1.20858E-5 41371 0 NA
2-131521641-ACT-A p.Leu667fs frameshift AMER3 2 82728 2.41756E-5 41364 0 NA
2-131521646-G-A p.Leu667Leu synonymous AMER3 305 82730 0.00368669 41365 0 0.00423918
2-131521649-T-C p.Asp668Asp synonymous AMER3 1 82722 1.20887E-5 41361 0 NA
2-131521679-C-T p.Ala678Ala synonymous AMER3 2 82596 2.42142E-5 41298 0 5.04541E-4
2-131521681-G-T p.Arg679Leu missense AMER3 1 82560 1.21124E-5 41280 0 4.09195E-6
2-131521681-G-A p.Arg679His missense AMER3 3 82560 3.63372E-5 41280 0 9.34684E-6
2-131521692-C-A p.Leu683Met missense AMER3 3 82534 3.63487E-5 41267 0 4.07621E-6
2-131521701-A-C p.Ser686Arg missense AMER3 1 82488 1.2123E-5 41244 0 2.77788E-5
2-131521710-G-A p.Glu689Lys missense AMER3 42 82440 5.09461E-4 41220 0 7.64818E-4
2-131521715-G-A p.Gln690Gln synonymous AMER3 1 82402 1.21356E-5 41201 0 NA
2-131521716-C-G p.Pro691Ala missense AMER3 1 82386 1.2138E-5 41193 0 NA
2-131521719-C-A p.Pro692Thr missense AMER3 2 82362 2.4283E-5 41181 0 NA
2-131521721-G-A p.Pro692Pro synonymous AMER3 1 82268 1.21554E-5 41134 0 3.18573E-5
2-131521725-G-A p.Ala694Thr missense AMER3 29 82196 3.52815E-4 41098 0 4.7789E-4
2-131521725-G-C p.Ala694Pro missense AMER3 1 82196 1.2166E-5 41098 0 NA
2-131521729-G-A p.Trp695* stop_gained AMER3 2 82208 2.43285E-5 41104 0 NA
2-131521732-C-T p.Pro696Leu missense AMER3 3 82186 3.65026E-5 41093 0 NA
2-131521744-A-G p.Asp700Gly missense AMER3 1 82106 1.21794E-5 41053 0 3.18613E-5
2-131521753-G-A p.Ser703Asn missense AMER3 2 82054 2.43742E-5 41027 0 3.18431E-5
2-131521756-G-T p.Gly704Val missense AMER3 1 82066 1.21853E-5 41033 0 4.06805E-6
2-131521770-C-T p.Arg709Cys missense AMER3 1 81814 1.22228E-5 40907 0 1.76772E-5
2-131521771-G-A p.Arg709His missense AMER3 3 81820 3.66659E-5 40910 0 9.55414E-5
2-131521788-G-A p.Asp715Asn missense AMER3 1 81892 1.22112E-5 40946 0 5.03525E-4
2-131521790-C-A p.Asp715Glu missense AMER3 5 81910 6.10426E-5 40955 0 3.47337E-5
2-131521794-C-CCT p.Leu717fs frameshift AMER3 5 81858 6.10814E-5 40929 0 3.46392E-5
2-131521794-C-A p.Leu717Met missense AMER3 2 81858 2.44326E-5 40929 0 NA
2-131521795-TGG-T p.Glu718fs frameshift AMER3 5 81902 6.10486E-5 40951 0 3.45799E-5
2-131521803-A-G p.Lys720Glu missense AMER3 1 81992 1.21963E-5 40996 0 NA
2-131521808-G-A p.Gln721Gln synonymous AMER3 3 82042 3.65666E-5 41021 0 6.25E-4
2-131521819-C-T p.Ser725Phe missense AMER3 5 82218 6.08139E-5 41109 0 NA
2-131521823-C-G p.Pro726Pro synonymous AMER3 1 82300 1.21507E-5 41150 0 2.05791E-4
2-131521831-C-T p.Thr729Ile missense AMER3 1 82348 1.21436E-5 41174 0 NA
2-131521844-C-G p.Gly733Gly synonymous AMER3 2 82406 2.42701E-5 41203 0 4.03972E-6
2-131521847-A-G p.Leu734Leu synonymous AMER3 1 82422 1.21327E-5 41211 0 4.03678E-6
2-131521849-C-T p.Pro735Leu missense AMER3 3 82460 3.63813E-5 41230 0 8.50253E-6
2-131521860-A-G p.Ser739Gly missense AMER3 3 82456 3.6383E-5 41228 0 2.54509E-5
2-131521873-A-G p.Gln743Arg missense AMER3 1 82394 1.21368E-5 41197 0 NA
2-131521881-C-T p.Arg746* stop_gained AMER3 2 82196 2.43321E-5 41098 0 1.20983E-5
2-131521882-G-C p.Arg746Pro missense AMER3 3 82176 3.6507E-5 41088 0 8.49632E-6
2-131521888-G-A p.Arg748His missense AMER3 3 82030 3.6572E-5 41015 0 6.03923E-5
2-131521895-G-T p.Gln750His missense AMER3 5 81870 6.10724E-5 40935 0 1.19074E-4
2-131521899-C-T p.Leu752Leu synonymous AMER3 1 81772 1.22291E-5 40886 0 NA
2-131521901-G-C p.Leu752Leu synonymous AMER3 1 81728 1.22357E-5 40864 0 3.18552E-5
2-131521911-A-C p.Arg756Arg synonymous AMER3 1 81434 1.22799E-5 40717 0 NA
2-131521913-G-A p.Arg756Arg synonymous AMER3 4 81396 4.91425E-5 40698 0 1.96941E-4
2-131521916-G-A p.Val757Val synonymous AMER3 2 81216 2.46257E-5 40608 0 NA
2-131521925-C-T p.Thr760Thr synonymous AMER3 3 80786 3.71351E-5 40393 0 1.27453E-4
2-131521926-G-A p.Gly761Arg missense AMER3 1 80692 1.23928E-5 40346 0 6.25E-4
2-131521931-A-G p.Leu762Leu synonymous AMER3 3 80536 3.72504E-5 40268 0 5.26048E-5
2-131521932-G-T p.Gly763Cys missense AMER3 1 80458 1.24288E-5 40229 0 NA
2-131521940-G-C p.Gln765His missense AMER3 1 80172 1.24732E-5 40086 0 8.95897E-6
2-131521942-C-T p.Ala766Val missense AMER3 5 80032 6.2475E-5 40016 0 4.82416E-5
2-131521952-T-C p.Ser769Ser synonymous AMER3 1 79762 1.25373E-5 39881 0 NA
2-131521955-G-A p.Val770Val synonymous AMER3 3 79642 3.76686E-5 39821 0 2.42234E-5
2-131521959-G-C p.Asp772His missense AMER3 3 79410 3.77786E-5 39705 0 2.02048E-5
2-131521976-C-G p.Leu777Leu synonymous AMER3 2 79034 2.53056E-5 39517 0 4.90016E-5
2-131521985-G-C p.Glu780Asp missense AMER3 11 78878 1.39456E-4 39439 0 0.00125
2-131521994-GC-AA p.GluGln783GluLys missense AMER3 1 78602 1.27223E-5 39301 0 NA
2-131522006-C-T p.His787His synonymous AMER3 1 78238 1.27815E-5 39119 0 5.03525E-4
2-131522007-G-A p.Gly788Ser missense AMER3 52 78152 6.6537E-4 39076 1 5.25621E-4
2-131522015-G-C p.Gln790His missense AMER3 1 78168 1.2793E-5 39084 0 NA
2-131522030-C-G p.Pro795Pro synonymous AMER3 2 78260 2.55558E-5 39130 0 NA
2-131522031-C-T p.Arg796Cys missense AMER3 4 78134 5.11941E-5 39067 0 1.84366E-4
2-131522032-G-A p.Arg796His missense AMER3 20 78144 2.55938E-4 39072 0 5.04541E-4
2-131522040-C-T p.Pro799Ser missense AMER3 2 78510 2.54745E-5 39255 0 NA
2-131522047-C-T p.Ala801Val missense AMER3 2 78416 2.5505E-5 39208 0 NA
2-131522049-C-T p.Arg802Trp missense AMER3 2 78502 2.54771E-5 39251 0 1.85419E-5
2-131522050-G-A p.Arg802Gln missense AMER3 5 78602 6.36116E-5 39301 0 0.0020202
2-131522053-G-T p.Trp803Leu missense AMER3 1 78716 1.27039E-5 39358 0 4.62843E-6
2-131522065-G-A p.Gly807Asp missense AMER3 1122 78798 0.0142389 39399 37 0.0268358
2-131522090-C-T p.Leu815Leu synonymous AMER3 1 79712 1.25452E-5 39856 0 3.18573E-5
2-131522111-A-AG p.Val825fs frameshift AMER3 12 80022 1.49959E-4 40011 0 3.82482E-4
2-131522111-AG-A p.Val825fs frameshift AMER3 1 80020 1.24969E-5 40010 0 3.18735E-5
2-131522113-G-C p.Gly823Ala missense AMER3 8 80070 9.99126E-5 40035 0 0.00126103
2-131522113-G-A p.Gly823Glu missense AMER3 2 80070 2.49781E-5 40035 0 8.88107E-6
2-131522113-G-T p.Gly823Val missense AMER3 2 80070 2.49781E-5 40035 0 4.44054E-6
2-131522114-G-A p.Gly823Gly synonymous AMER3 1 80066 1.24897E-5 40033 0 3.18552E-5
2-131522116-G-A p.Gly824Glu missense AMER3 21 80066 2.62284E-4 40033 0 0.0040282
2-131522116-G-C p.Gly824Ala missense AMER3 1 80068 1.24894E-5 40034 0 5.85275E-5
2-131522118-G-A p.Val825Ile missense AMER3 2 80038 2.49881E-5 40019 0 8.91631E-6
2-131522131-C-T p.Ala829Val missense AMER3 1 80266 1.24586E-5 40133 0 1.45611E-5
2-131522142-C-T p.Arg833Cys missense AMER3 9 80260 1.12136E-4 40130 0 1.8572E-4
2-131522161-G-A p.Arg839His missense AMER3 5 80038 6.24703E-5 40019 0 3.18471E-5
2-131522161-G-T p.Arg839Leu missense AMER3 1 80040 1.24938E-5 40020 0 8.82114E-6
2-131522167-G-A p.Gly841Asp missense AMER3 2 79908 2.50288E-5 39954 0 4.11365E-5
2-131522176-G-A p.Cys844Tyr missense AMER3 1 80034 1.24947E-5 40017 0 4.31742E-6
2-131522206-C-T p.Pro854Leu missense AMER3 2 79956 2.50138E-5 39978 0 NA
2-131522658-C-T c.*427C>T splice_region AMER3 1 44894 2.22747E-5 22447 0 NA
2-131522659-G-A c.*428G>A splice_region AMER3 9 44888 2.00499E-4 22444 0 1.91168E-4
2-131525705-G-A c.*3474G>A splice_region AMER3 1 44874 2.22846E-5 22437 0 NA