Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-15848294-C-T c.-269C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 1 10536 9.49127E-5 5268 0 9.63701E-5
17-15848469-C-T c.-94C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 2 53226 3.75756E-5 26613 0 NA
17-15848517-C-T c.-46C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 2 69124 2.89335E-5 34562 0 1.26295E-4
17-15848542-C-T c.-21C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 3 73438 4.08508E-5 36719 0 0.00126743
17-15848585-C-A p.Ala8Glu missense ADORA2B 4 77622 5.15318E-5 38811 0 7.10985E-4
17-15848586-G-A p.Ala8Ala synonymous ADORA2B 4 77740 5.14536E-5 38870 0 6.38733E-5
17-15848588-T-C p.Leu9Pro missense ADORA2B 17 77926 2.18156E-4 38963 0 3.05904E-4
17-15848592-C-T p.Tyr10Tyr synonymous ADORA2B 1 78070 1.2809E-5 39035 0 7.14102E-6
17-15848598-G-T p.Ala12Ala synonymous ADORA2B 962 78232 0.0122968 39116 29 0.0378803
17-15848608-G-C p.Val16Leu missense ADORA2B 2 78686 2.54175E-5 39343 0 NA
17-15848626-G-C p.Val22Leu missense ADORA2B 2 78970 2.53261E-5 39485 0 3.18878E-5
17-15848631-G-T p.Ala23Ala synonymous ADORA2B 3 78992 3.79785E-5 39496 0 NA
17-15848633-G-A p.Gly24Asp missense ADORA2B 1 79008 1.26569E-5 39504 0 9.36198E-6
17-15848637-C-T p.Asn25Asn synonymous ADORA2B 975 79040 0.0123355 39520 35 0.0221081
17-15848650-G-A p.Ala30Thr missense ADORA2B 1 79236 1.26205E-5 39618 0 6.37836E-5
17-15848651-C-T p.Ala30Val missense ADORA2B 1 79230 1.26215E-5 39615 0 3.38021E-5
17-15848666-C-T p.Ala35Val missense ADORA2B 257 79470 0.00323392 39735 3 0.00590036
17-15848671-A-T p.Thr37Ser missense ADORA2B 3 79650 3.76648E-5 39825 0 2.12707E-4
17-15848672-C-T p.Thr37Ile missense ADORA2B 5 79692 6.27416E-5 39846 0 NA
17-15848673-T-C p.Thr37Thr synonymous ADORA2B 107 79690 0.0013427 39845 1 0.00280612
17-15848682-G-A p.Thr40Thr synonymous ADORA2B 5 79696 6.27384E-5 39848 0 NA
17-15848684-C-T p.Pro41Leu missense ADORA2B 1 79752 1.25389E-5 39876 0 NA
17-15848690-A-C p.Asn43Thr missense ADORA2B 31 79884 3.88063E-4 39942 0 6.25E-4
17-15848690-A-G p.Asn43Ser missense ADORA2B 1 79886 1.25178E-5 39943 0 9.05945E-6
17-15848702-T-G p.Val47Gly missense ADORA2B 1 79944 1.25088E-5 39972 0 2.62646E-5
17-15848730-G-A p.Val56Val synonymous ADORA2B 1 79852 1.25232E-5 39926 0 6.37471E-5
17-15848747-C-T p.Pro62Leu missense ADORA2B 1 80012 1.24981E-5 40006 0 8.49964E-6
17-15848748-C-T p.Pro62Pro synonymous ADORA2B 1 80016 1.24975E-5 40008 0 3.99326E-6
17-15848759-C-T p.Thr66Ile missense ADORA2B 4 79992 5.0005E-5 39996 0 3.18552E-5
17-15848767-C-CT p.Phe71fs frameshift ADORA2B 1 79930 1.25109E-5 39965 0 NA
17-15848777-G-A p.Cys72Tyr missense ADORA2B 4 79858 5.00889E-5 39929 0 0.0020141
17-15848780-C-T p.Thr73Ile missense ADORA2B 2 79884 2.50363E-5 39942 0 8.0116E-6
17-15848799-C-G p.Leu79Leu synonymous ADORA2B 12 79842 1.50297E-4 39921 0 9.65577E-5
17-15848802-C-T p.Phe80Phe synonymous ADORA2B 4 79800 5.01253E-5 39900 0 1.91107E-4
17-15848805-C-T p.Leu81Leu synonymous ADORA2B 1 79812 1.25294E-5 39906 0 6.25E-4
17-15848815-G-A p.Val85Met missense ADORA2B 1 79728 1.25426E-5 39864 0 3.18735E-5
17-15848829-G-A p.Thr89Thr synonymous ADORA2B 1 79530 1.25739E-5 39765 0 NA
17-15848830-C-T p.Gln90* stop_gained ADORA2B 2 79528 2.51484E-5 39764 0 NA
17-15848832-G-C p.Gln90His missense ADORA2B 11 79520 1.3833E-4 39760 0 7.05078E-5
17-15848839-A-G p.Ile93Val missense ADORA2B 1 79402 1.25941E-5 39701 0 4.19681E-6
17-15848848-C-T p.Leu96Phe missense ADORA2B 30 79118 3.7918E-4 39559 0 6.90739E-4
17-15848856-C-T p.Ala98Ala synonymous ADORA2B 1 78680 1.27097E-5 39340 0 1.36262E-5
17-15848874-C-G p.Tyr104* stop_gained ADORA2B 2 77224 2.58987E-5 38612 0 3.75968E-5
17-15848898-G-T c.335+1G>T splice_donor ADORA2B 1 73398 1.36243E-5 36699 0 NA
17-15878003-T-C p.Leu116Leu synonymous ADORA2B 1 81080 1.23335E-5 40540 0 8.33444E-6
17-15878011-G-A p.Thr118Thr synonymous ADORA2B 134 81078 0.00165273 40539 0 0.00446172
17-15878012-G-C p.Gly119Arg missense ADORA2B 2 81086 2.46652E-5 40543 0 3.18492E-5
17-15878018-C-T p.Arg121* stop_gained ADORA2B 3 81092 3.6995E-5 40546 0 6.60044E-5
17-15878019-G-A p.Arg121Gln missense ADORA2B 2 81090 2.4664E-5 40545 0 1.64973E-5
17-15878034-T-C p.Ile126Thr missense ADORA2B 3 81094 3.69941E-5 40547 0 2.47219E-5
17-15878038-T-A p.Ala127Ala synonymous ADORA2B 1 81098 1.23308E-5 40549 0 8.24022E-6
17-15878053-T-C p.Leu132Leu synonymous ADORA2B 1 81100 1.23305E-5 40550 0 NA
17-15878063-A-T p.Ile136Phe missense ADORA2B 1 81100 1.23305E-5 40550 0 8.23669E-6
17-15878066-G-A p.Gly137Arg missense ADORA2B 2 81102 2.46603E-5 40551 0 3.1841E-5
17-15878069-T-C p.Leu138Leu synonymous ADORA2B 1 81100 1.23305E-5 40550 0 NA
17-15878087-TG-T p.Trp144fs frameshift ADORA2B 2 81096 2.46621E-5 40548 0 1.59055E-5
17-15878098-AGAC-A p.Asp148del conservative_inframe_deletion ADORA2B 1 81098 1.23308E-5 40549 0 NA
17-15878099-G-C p.Asp148His missense ADORA2B 2 81098 2.46615E-5 40549 0 NA
17-15878107-C-T p.Ala150Ala synonymous ADORA2B 1 81102 1.23302E-5 40551 0 NA
17-15878109-CCAA-C p.Asn153del conservative_inframe_deletion ADORA2B 3316 81054 0.040911 40527 77 0.051863
17-15878112-A-C p.Asn152Thr missense ADORA2B 4 80926 4.94279E-5 40463 0 8.42517E-6
17-15878120-A-C p.Thr155Pro missense ADORA2B 1 81100 1.23305E-5 40550 0 NA
17-15878122-A-G p.Thr155Thr synonymous ADORA2B 1 81100 1.23305E-5 40550 0 NA
17-15878142-C-T p.Thr162Met missense ADORA2B 3 81102 3.69905E-5 40551 0 5.03525E-4
17-15878143-G-A p.Thr162Thr synonymous ADORA2B 1 81102 1.23302E-5 40551 0 2.47113E-5
17-15878146-T-C p.Asn163Asn synonymous ADORA2B 1 81100 1.23305E-5 40550 0 NA
17-15878155-C-T p.Cys166Cys synonymous ADORA2B 1 81100 1.23305E-5 40550 0 NA
17-15878167-G-C p.Lys170Asn missense ADORA2B 3 81096 3.69932E-5 40548 0 3.18492E-5
17-15878172-T-C p.Leu172Pro missense ADORA2B 1 81102 1.23302E-5 40551 0 NA
17-15878191-C-T p.Pro178Pro synonymous ADORA2B 1 81094 1.23314E-5 40547 0 8.23764E-6
17-15878193-T-C p.Met179Thr missense ADORA2B 1 81092 1.23317E-5 40546 0 NA
17-15878195-AG-A p.Ser180fs frameshift ADORA2B 1 81090 1.2332E-5 40545 0 NA
17-15878198-T-C p.Tyr181His missense ADORA2B 1 81092 1.23317E-5 40546 0 NA
17-15878200-CATGGTAT-C p.Met182fs frameshift ADORA2B 1 81086 1.23326E-5 40543 0 NA
17-15878201-A-G p.Met182Val missense ADORA2B 1 81092 1.23317E-5 40546 0 2.47121E-5
17-15878206-A-G p.Val183Val synonymous ADORA2B 3 81086 3.69978E-5 40543 0 1.27437E-4
17-15878223-G-T p.Gly189Val missense ADORA2B 1 81078 1.23338E-5 40539 0 NA
17-15878223-GGT-G p.Val191fs frameshift ADORA2B 1 81078 1.23338E-5 40539 0 NA
17-15878235-C-A p.Pro193His missense ADORA2B 1 81074 1.23344E-5 40537 0 8.23723E-6
17-15878243-C-CT p.Ile197fs frameshift ADORA2B 1 81072 1.23347E-5 40536 0 NA
17-15878244-T-C p.Leu196Pro missense ADORA2B 1 81070 1.2335E-5 40535 0 NA
17-15878247-T-C p.Ile197Thr missense ADORA2B 1 81064 1.23359E-5 40532 0 3.18471E-5
17-15878256-T-C p.Val200Ala missense ADORA2B 1 81070 1.2335E-5 40535 0 NA
17-15878266-T-G p.Ile203Met missense ADORA2B 22 81066 2.71384E-4 40533 0 0.0020141
17-15878297-C-T p.Gln214* stop_gained ADORA2B 7 81034 8.63835E-5 40517 0 6.37024E-5
17-15878300-C-T p.Arg215Cys missense ADORA2B 1 81022 1.23423E-5 40511 0 7.95425E-6
17-15878300-C-G p.Arg215Gly missense ADORA2B 2 81022 2.46847E-5 40511 0 3.97712E-6
17-15878311-G-A p.Leu218Leu synonymous ADORA2B 1 81028 1.23414E-5 40514 0 NA
17-15878318-C-T p.His221Tyr missense ADORA2B 1 81008 1.23445E-5 40504 0 3.97687E-6
17-15878337-A-G p.Gln227Arg missense ADORA2B 1 80996 1.23463E-5 40498 0 NA
17-15878340-G-C p.Arg228Pro missense ADORA2B 1 81002 1.23454E-5 40501 0 NA
17-15878362-A-C p.Ser235Ser synonymous ADORA2B 1 80992 1.23469E-5 40496 0 2.38597E-4
17-15878377-G-A p.Val240Val synonymous ADORA2B 121 80992 0.00149397 40496 0 0.00340938
17-15878397-G-T p.Trp247Leu missense ADORA2B 1 81000 1.23457E-5 40500 0 NA
17-15878409-A-G p.His251Arg missense ADORA2B 2 80992 2.46938E-5 40496 0 1.19297E-5
17-15878419-C-T p.Asn254Asn synonymous ADORA2B 1 80978 1.2349E-5 40489 0 NA
17-15878422-T-C p.Cys255Cys synonymous ADORA2B 2 80960 2.47036E-5 40480 0 7.15877E-5
17-15878424-T-C p.Val256Ala missense ADORA2B 2 80954 2.47054E-5 40477 0 3.97709E-6
17-15878437-G-T p.Gln260His missense ADORA2B 1 80928 1.23567E-5 40464 0 8.24919E-6
17-15878443-T-C p.Ala262Ala synonymous ADORA2B 330 80886 0.00407982 40443 8 0.00821342
17-15878449-T-C p.Gly264Gly synonymous ADORA2B 2 80866 2.47323E-5 40433 0 NA
17-15878451-A-C p.Lys265Thr missense ADORA2B 2 80888 2.47255E-5 40444 0 3.97795E-6
17-15878456-A-G p.Lys267Glu missense ADORA2B 1 80866 1.23661E-5 40433 0 8.2575E-6
17-15878479-G-T p.Met274Ile missense ADORA2B 1 80750 1.23839E-5 40375 0 NA
17-15878484-T-G p.Ile276Ser missense ADORA2B 1 80734 1.23864E-5 40367 0 7.96242E-6
17-15878518-C-T p.Pro287Pro synonymous ADORA2B 1 80278 1.24567E-5 40139 0 NA
17-15878531-T-C p.Tyr292His missense ADORA2B 2 80006 2.49981E-5 40003 0 NA
17-15878534-C-T p.Arg293Trp missense ADORA2B 11 79938 1.37607E-4 39969 0 2.2293E-4
17-15878541-G-A p.Arg295Gln missense ADORA2B 1 79812 1.25294E-5 39906 0 1.16031E-4
17-15878541-G-T p.Arg295Leu missense ADORA2B 1 79812 1.25294E-5 39906 0 NA
17-15878543-G-C p.Asp296His missense ADORA2B 2 79788 2.50664E-5 39894 0 8.30592E-6
17-15878544-A-G p.Asp296Gly missense ADORA2B 2 79750 2.50784E-5 39875 0 1.57839E-4
17-15878550-G-A p.Arg298His missense ADORA2B 2 79656 2.5108E-5 39828 0 5.03525E-4
17-15878556-C-CT p.His302fs frameshift ADORA2B 3 79642 3.76686E-5 39821 0 3.18451E-5
17-15878557-T-G p.Thr300Thr synonymous ADORA2B 18 79648 2.25994E-4 39824 0 2.07786E-4
17-15878578-G-GT p.Tyr308fs frameshift ADORA2B 1 79770 1.2536E-5 39885 0 NA
17-15878578-GTATC-G p.Tyr308fs frameshift ADORA2B 1 79770 1.2536E-5 39885 0 NA
17-15878580-A-G p.Tyr308Cys missense ADORA2B 1 79856 1.25225E-5 39928 0 3.1835E-5
17-15878585-C-T p.Leu310Phe missense ADORA2B 1 79962 1.25059E-5 39981 0 3.18512E-5
17-15878587-C-G p.Leu310Leu synonymous ADORA2B 1 80004 1.24994E-5 40002 0 NA
17-15878591-C-A p.Gln312Lys missense ADORA2B 1 80050 1.24922E-5 40025 0 4.00259E-6
17-15878601-T-A p.Val315Asp missense ADORA2B 1 80218 1.2466E-5 40109 0 NA
17-15878625-G-A p.Gly323Glu missense ADORA2B 1 80564 1.24125E-5 40282 0 4.00647E-6
17-15878631-A-G p.Gln325Arg missense ADORA2B 12 80618 1.4885E-4 40309 0 5.03525E-4
17-15878641-C-T p.Leu328Leu synonymous ADORA2B 1 80676 1.23953E-5 40338 0 4.02253E-5
17-15878642-G-A p.Gly329Ser missense ADORA2B 1 80694 1.23925E-5 40347 0 9.55536E-5
17-15878648-G-C p.Gly331Arg missense ADORA2B 2 80702 2.47825E-5 40351 0 NA
17-15878653-A-G p.Leu332Leu synonymous ADORA2B 1 80692 1.23928E-5 40346 0 8.44295E-6