Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-104160004-G-A c.-59G>A 5_prime_UTR_premature_start_codon_gain AMY2A 1 78784 1.26929E-5 39392 0 NA
1-104160069-T-C p.Phe3Leu missense AMY2A 32 80012 3.9994E-4 40006 0 0.005625
1-104160071-C-A p.Phe3Leu missense AMY2A 1 80082 1.24872E-5 40041 0 8.27575E-6
1-104160075-C-T p.Leu5Leu synonymous AMY2A 1 80132 1.24794E-5 40066 0 2.66435E-5
1-104160076-T-G p.Leu5Arg missense AMY2A 28 80126 3.4945E-4 40063 0 0.005625
1-104160076-T-C p.Leu5Pro missense AMY2A 1 80162 1.24747E-5 40081 0 2.65383E-5
1-104160077-G-C p.Leu5Leu synonymous AMY2A 1 80158 1.24754E-5 40079 0 NA
1-104160086-C-T p.Phe8Phe synonymous AMY2A 3 80202 3.74056E-5 40101 0 6.88705E-4
1-104160089-C-T p.Thr9Thr synonymous AMY2A 1 80230 1.24642E-5 40115 0 8.58723E-6
1-104160090-A-G p.Ile10Val missense AMY2A 2 80230 2.49283E-5 40115 0 4.0618E-6
1-104160109-A-G p.Gln16Arg missense AMY2A 1 80282 1.24561E-5 40141 0 NA
1-104160114-T-C p.Ser18Pro missense AMY2A 2 80302 2.4906E-5 40151 0 4.02149E-6
1-104160114-TC-T p.Pro19fs frameshift AMY2A 1 80302 1.2453E-5 40151 0 NA
1-104160120-A-G p.Asn20Asp missense AMY2A 1 80340 1.24471E-5 40170 0 4.01774E-6
1-104160124-CACA-C p.Gln23del conservative_inframe_deletion AMY2A 1 80352 1.24452E-5 40176 0 8.35422E-6
1-104160133-G-C p.Gly24Ala missense AMY2A 2 80424 2.48682E-5 40212 0 8.32972E-6
1-104160135-C-T p.Arg25Trp missense AMY2A 19 80420 2.3626E-4 40210 2 6.18812E-4
1-104160136-G-A p.Arg25Gln missense AMY2A 1 80418 1.2435E-5 40209 0 1.29542E-4
1-104160137-G-A p.Arg25Arg synonymous AMY2A 3 80426 3.73014E-5 40213 0 4.98091E-5
1-104160137-G-T p.Arg25Arg synonymous AMY2A 1 80426 1.24338E-5 40213 0 NA
1-104160140-A-T p.Thr26Thr synonymous AMY2A 1 80438 1.24319E-5 40219 0 3.23541E-5
1-104160146-T-C p.Ile28Ile synonymous AMY2A 8 80448 9.94431E-5 40224 0 6.46998E-5
1-104160166-G-A p.Arg35Gln missense AMY2A 3 80516 3.72597E-5 40258 0 NA
1-104160178-T-C p.Ile39Thr missense AMY2A 4 80538 4.9666E-5 40269 0 3.23206E-5
1-104160185-T-C p.Leu41Leu synonymous AMY2A 3 80552 3.7243E-5 40276 1 6.46538E-5
1-104160195-C-T p.Arg45* stop_gained AMY2A 1 80556 1.24137E-5 40278 0 3.23666E-5
1-104160195-C-A p.Arg45Arg synonymous AMY2A 1 80560 1.24131E-5 40280 0 9.70999E-5
1-104160196-G-A p.Arg45Gln missense AMY2A 1 80576 1.24106E-5 40288 0 4.00083E-6
1-104160198-T-C p.Tyr46His missense AMY2A 1 80574 1.2411E-5 40287 0 8.27815E-6
1-104160207-C-A p.Pro49Thr missense AMY2A 7 80590 8.68594E-5 40295 0 1.94124E-4
1-104160207-C-G p.Pro49Ala missense AMY2A 33 80586 4.095E-4 40293 2 7.76498E-4
1-104160208-C-T p.Pro49Leu missense AMY2A 2 80590 2.4817E-5 40295 0 4.40155E-5
1-104160208-C-G p.Pro49Arg missense AMY2A 1 80590 1.24085E-5 40295 0 NA
1-104160209-G-C p.Pro49Pro synonymous AMY2A 166 80402 0.00206463 40201 14 0.00359712
1-104160209-G-A p.Pro49Pro synonymous AMY2A 1 80594 1.24079E-5 40297 0 2.48357E-5
1-104160223-G-A p.Gly54Glu missense AMY2A 2 80596 2.48151E-5 40298 0 3.23164E-5
1-104160227-T-G p.Val55Val synonymous AMY2A 1 80596 1.24076E-5 40298 0 3.23248E-5
1-104160227-T-A p.Val55Val synonymous AMY2A 1 80596 1.24076E-5 40298 0 NA
1-104160233-G-A c.168+3G>A splice_region AMY2A 2 80600 2.48139E-5 40300 0 3.23248E-5
1-104160235-G-A c.168+5G>A splice_region AMY2A 1 80600 1.24069E-5 40300 0 NA
1-104160576-G-GTC p.Pro59fs frameshift AMY2A 2 80548 2.48299E-5 40274 1 NA
1-104160590-T-C p.Asn61Asn synonymous AMY2A 15 80558 1.86201E-4 40279 3 6.20347E-4
1-104160598-T-C p.Val64Ala missense AMY2A 2 80566 2.48244E-5 40283 0 9.70246E-5
1-104160600-G-A p.Ala65Thr missense AMY2A 5 80560 6.20655E-5 40280 0 2.31823E-4
1-104160602-A-C p.Ala65Ala synonymous AMY2A 3 80550 3.72439E-5 40275 0 9.10717E-5
1-104160603-A-G p.Ile66Val missense AMY2A 1 80562 1.24128E-5 40281 0 8.27938E-6
1-104160606-T-C p.Tyr67His missense AMY2A 1 80540 1.24162E-5 40270 0 6.18812E-4
1-104160612-C-G p.Pro69Ala missense AMY2A 1 80554 1.2414E-5 40277 0 NA
1-104160616-T-A p.Phe70Tyr missense AMY2A 2 80548 2.48299E-5 40274 0 NA
1-104160622-C-A p.Pro72His missense AMY2A 1 80552 1.24143E-5 40276 0 NA
1-104160624-T-C p.Trp73Arg missense AMY2A 1 80558 1.24134E-5 40279 0 3.2352E-5
1-104160628-G-C p.Trp74Ser missense AMY2A 10 80566 1.24122E-4 40283 0 4.13983E-5
1-104160631-A-G p.Glu75Gly missense AMY2A 2 80576 2.48213E-5 40288 0 NA
1-104160636-T-C p.Tyr77His missense AMY2A 1 80566 1.24122E-5 40283 0 NA
1-104160638-C-T p.Tyr77Tyr synonymous AMY2A 3 80574 3.72329E-5 40287 0 3.24149E-5
1-104160642-C-A p.Pro79Thr missense AMY2A 2 80552 2.48287E-5 40276 0 1.6561E-5
1-104160651-TATA-T p.Tyr82_Lys83delinsTer stop_gained AMY2A 1 80556 1.24137E-5 40278 0 3.23541E-5
1-104160654-A-AGG p.Lys83fs frameshift AMY2A 1 80556 1.24137E-5 40278 0 3.23708E-5
1-104160659-A-C p.Leu84Phe missense AMY2A 1 80558 1.24134E-5 40279 0 NA
1-104160659-A-G p.Leu84Leu synonymous AMY2A 1 80556 1.24137E-5 40278 0 NA
1-104160660-T-A p.Cys85Ser missense AMY2A 1 80556 1.24137E-5 40278 0 NA
1-104160661-G-T p.Cys85Phe missense AMY2A 2 80556 2.48275E-5 40278 1 NA
1-104160664-C-T p.Thr86Ile missense AMY2A 2 80556 2.48275E-5 40278 1 8.28432E-6
1-104160676-A-G p.Asn90Ser missense AMY2A 1 80576 1.24106E-5 40288 0 4.00824E-6
1-104160677-T-C p.Asn90Asn synonymous AMY2A 2 80574 2.48219E-5 40287 0 NA
1-104160692-A-T p.Arg95Ser missense AMY2A 2 80572 2.48225E-5 40286 0 3.48224E-4
1-104160692-A-G p.Arg95Arg synonymous AMY2A 1 80570 1.24116E-5 40285 0 6.46204E-5
1-104160695-C-G p.Asn96Lys missense AMY2A 2 80562 2.48256E-5 40281 0 8.02607E-6
1-104160699-G-T p.Val98Leu missense AMY2A 2 80564 2.4825E-5 40282 0 3.21412E-5
1-104160703-C-A p.Thr99Asn missense AMY2A 379 80530 0.00470632 40265 10 0.00905036
1-104160714-A-C p.Asn103His missense AMY2A 1 80540 1.24162E-5 40270 0 NA
1-104160715-A-G p.Asn103Ser missense AMY2A 10 80534 1.24171E-4 40267 0 6.67557E-4
1-104160722-G-T p.Gly105Gly splice_region+synonymous AMY2A 1 80528 1.2418E-5 40264 0 NA
1-104161525-T-C c.316-8T>C splice_region AMY2A 17 72974 2.3296E-4 36487 3 6.1894E-4
1-104161530-T-C c.316-3T>C splice_region AMY2A 1 73488 1.36077E-5 36744 0 NA
1-104161536-C-T p.Arg107Cys missense AMY2A 1 74098 1.34956E-5 37049 0 7.03334E-5
1-104161537-G-A p.Arg107His missense AMY2A 2 74234 2.69418E-5 37117 0 8.0171E-4
1-104161537-GTATT-G p.Ile108fs frameshift AMY2A 1 74238 1.34702E-5 37119 0 NA
1-104161547-G-A p.Val110Val synonymous AMY2A 1 74906 1.33501E-5 37453 0 7.34031E-6
1-104161557-A-G p.Ile114Val missense AMY2A 1 75298 1.32806E-5 37649 0 3.70892E-5
1-104161570-G-C p.Cys118Ser missense AMY2A 4 75356 5.30814E-5 37678 0 3.7172E-5
1-104161577-C-T p.Asn120Asn synonymous AMY2A 1103 74104 0.0148845 37052 9 0.0400805
1-104161581-G-A p.Val122Met missense AMY2A 1 75030 1.3328E-5 37515 0 NA
1-104161585-G-A p.Ser123Asn missense AMY2A 2 74898 2.6703E-5 37449 1 6.67557E-4
1-104161596-A-T p.Ser127Cys missense AMY2A 2 74186 2.69593E-5 37093 0 NA
1-104161600-G-A p.Ser128Asn missense AMY2A 1 73816 1.35472E-5 36908 0 0.00199468
1-104161611-A-T p.Ser132Cys missense AMY2A 1 72784 1.37393E-5 36392 0 7.34592E-5
1-104161624-C-G p.Pro136Arg missense AMY2A 2 71064 2.81436E-5 35532 1 NA
1-104161625-T-G p.Pro136Pro synonymous AMY2A 1 70984 1.40877E-5 35492 0 NA
1-104161627-G-A p.Gly137Glu missense AMY2A 1 70674 1.41495E-5 35337 0 NA
1-104161631-T-C p.Ser138Ser synonymous AMY2A 1 70262 1.42324E-5 35131 0 4.01959E-4
1-104161632-A-G p.Arg139Gly missense AMY2A 3 70204 4.27326E-5 35102 0 3.68378E-5
1-104161643-A-C p.Pro142Pro synonymous AMY2A 2 68946 2.90082E-5 34473 0 NA
1-104161644-G-A p.Ala143Thr missense AMY2A 1 68634 1.457E-5 34317 0 7.32601E-5
1-104161647-G-C p.Val144Leu missense AMY2A 1 68576 1.45824E-5 34288 0 NA
1-104161650-C-T p.Pro145Ser missense AMY2A 723 68360 0.0105764 34180 19 0.0199867
1-104161650-C-A p.Pro145Thr missense AMY2A 9 68460 1.31464E-4 34230 0 1.39886E-4
1-104161659-G-C p.Gly148Arg missense AMY2A 1 67902 1.47271E-5 33951 0 0.00135318
1-104161670-C-T p.Phe151Phe synonymous AMY2A 11 67474 1.63026E-4 33737 1 3.86954E-4
1-104161672-A-G p.Asn152Ser missense AMY2A 2 67486 2.96358E-5 33743 0 5.76302E-5
1-104161683-T-C p.Cys156Arg missense AMY2A 1 67532 1.48078E-5 33766 0 NA
1-104161706-C-T p.Ile163Ile synonymous AMY2A 1 66938 1.49392E-5 33469 0 7.87898E-5
1-104161707-G-A p.Glu164Lys missense AMY2A 3 66788 4.49182E-5 33394 0 1.59591E-4
1-104161709-G-C p.Glu164Asp missense AMY2A 1 66914 1.49446E-5 33457 0 NA
1-104161714-A-G p.Tyr166Cys missense AMY2A 1 66752 1.49808E-5 33376 0 NA
1-104161715-C-T p.Tyr166Tyr synonymous AMY2A 1 66748 1.49817E-5 33374 0 0.00138122
1-104161721-T-G p.Asp168Glu missense AMY2A 2 66368 3.0135E-5 33184 0 NA
1-104161721-T-C p.Asp168Asp synonymous AMY2A 1 66368 1.50675E-5 33184 0 1.20427E-5
1-104161724-T-C p.Ala169Ala synonymous AMY2A 1 66106 1.51272E-5 33053 0 NA
1-104161726-C-T p.Thr170Ile missense AMY2A 1 65864 1.51828E-5 32932 0 NA
1-104161735-T-A c.513+5T>A splice_region AMY2A 1 65190 1.53398E-5 32595 0 3.82117E-5
1-104162169-T-C c.514-7T>C splice_region AMY2A 2 57380 3.48554E-5 28690 0 NA
1-104162174-AG-A c.514-1delG splice_acceptor AMY2A 1 58198 1.71827E-5 29099 0 1.27796E-5
1-104162176-G-T p.Val172Phe missense+splice_region AMY2A 1 58334 1.71427E-5 29167 0 1.27554E-5
1-104162189-G-A p.Arg176His missense AMY2A 20 59440 3.36474E-4 29720 0 6.25E-4
1-104162194-A-T p.Thr178Ser missense AMY2A 951 58594 0.0162303 29297 12 0.040578
1-104162199-T-C p.Gly179Gly synonymous AMY2A 6 60318 9.94728E-5 30159 0 2.35393E-4
1-104162200-C-A p.Leu180Ile missense AMY2A 1 60400 1.65563E-5 30200 0 2.74574E-4
1-104162202-T-A p.Leu180Leu synonymous AMY2A 2 60614 3.29957E-5 30307 0 9.77326E-5
1-104162214-A-G p.Ala184Ala synonymous AMY2A 2 65592 3.04915E-5 32796 0 6.25E-4
1-104162234-G-A p.Arg191His missense AMY2A 3 74050 4.05132E-5 37025 0 0.001875
1-104162239-A-G p.Lys193Glu missense AMY2A 2 74870 2.6713E-5 37435 0 NA
1-104162246-C-T p.Ala195Val missense AMY2A 2 75272 2.65703E-5 37636 0 NA
1-104162249-A-AAT p.Met198fs frameshift AMY2A 1 75538 1.32384E-5 37769 0 2.43123E-4
1-104162269-G-T p.Asp203Tyr missense AMY2A 1 76922 1.30002E-5 38461 0 NA
1-104162272-A-G p.Ile204Val missense AMY2A 3 77014 3.8954E-5 38507 0 2.56033E-4
1-104162275-G-A p.Gly205Ser missense AMY2A 3 75900 3.95257E-5 37950 0 0.010313
1-104162290-A-G p.Arg210Gly missense AMY2A 3 77914 3.8504E-5 38957 0 2.65463E-4
1-104162293-C-A p.Leu211Ile missense AMY2A 2 78088 2.56121E-5 39044 0 7.46938E-5
1-104162309-A-T p.His216Leu missense AMY2A 3 78848 3.80479E-5 39424 0 0.00122709
1-104162314-T-A p.Trp218Arg missense AMY2A 1 78720 1.27033E-5 39360 0 3.49727E-4
1-104162323-G-A p.Asp221Asn missense AMY2A 1 78824 1.26865E-5 39412 0 6.47517E-6
1-104162330-A-G p.Lys223Arg missense AMY2A 2 78982 2.53222E-5 39491 0 7.41235E-6
1-104162343-C-A p.Asp227Glu missense AMY2A 3 78870 3.80373E-5 39435 0 4.5425E-4
1-104162345-A-C p.Lys228Thr missense AMY2A 1 78924 1.26704E-5 39462 0 NA
1-104162347-C-A p.Leu229Met missense AMY2A 3 78916 3.80151E-5 39458 0 4.87266E-4
1-104162351-A-G p.His230Arg missense AMY2A 84 75098 0.00111854 37549 1 0.0271328
1-104162373-C-T p.Phe237Phe synonymous AMY2A 1 78308 1.27701E-5 39154 0 9.81804E-5
1-104162395-A-T p.Ile245Phe missense AMY2A 1 76032 1.31524E-5 38016 0 6.60677E-5
1-104162407-G-A c.744+1G>A splice_donor AMY2A 3 71776 4.17967E-5 35888 0 4.37828E-4
1-104162410-C-T c.744+4C>T splice_region AMY2A 1 70136 1.4258E-5 35068 0 0.00250313
1-104166496-T-C p.Asn370Asn synonymous AMY2A 2 19110 1.04657E-4 9555 0 0.516756