Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-123002788-CTTGTT-C c.*662_*666delAACAA splice_region ADCY5 1 150 0.00666667 75 0 0.00226129
3-123003464-C-T p.Pro909Pro synonymous ADCY5 84 83188 0.00100976 41594 1 0.00245207
3-123003465-G-C p.Pro909Arg missense ADCY5 2 83178 2.40448E-5 41589 0 3.18512E-5
3-123003465-G-A p.Pro909Leu missense ADCY5 7 83176 8.41589E-5 41588 0 5.03525E-4
3-123003492-A-G p.Met900Thr missense ADCY5 1 83226 1.20155E-5 41613 0 9.55536E-5
3-123003493-T-G p.Met900Leu missense ADCY5 1 83228 1.20152E-5 41614 0 NA
3-123003509-C-T p.Lys894Lys synonymous ADCY5 1 83238 1.20137E-5 41619 0 3.9763E-6
3-123003516-TT-AC p.Lys892Val missense ADCY5 1 83218 1.20166E-5 41609 0 NA
3-123003524-G-A p.Gly889Gly synonymous ADCY5 3 83178 3.60672E-5 41589 0 3.57878E-5
3-123003545-C-T p.Thr882Thr synonymous ADCY5 45 83146 5.41217E-4 41573 0 0.00133818
3-123003545-C-A p.Thr882Thr synonymous ADCY5 1 83148 1.20267E-5 41574 0 1.19297E-5
3-123003546-G-A p.Thr882Met missense ADCY5 1 83150 1.20265E-5 41575 0 3.18552E-5
3-123003557-C-T p.Leu878Leu synonymous ADCY5 30 83070 3.61141E-4 41535 0 6.25E-4
3-123003572-G-A p.Asp873Asp synonymous ADCY5 1 82932 1.20581E-5 41466 0 3.97719E-5
3-123003584-C-A c.2608-1G>T splice_acceptor ADCY5 4 82670 4.83851E-5 41335 1 3.98096E-6
3-123005528-T-A c.2607+4A>T splice_region ADCY5 1 83168 1.20239E-5 41584 0 4.09021E-6
3-123005543-C-T p.Asp866Asn missense ADCY5 2 83228 2.40304E-5 41614 0 2.41717E-5
3-123005544-G-A p.Pro865Pro synonymous ADCY5 8 83224 9.61261E-5 41612 0 2.55158E-5
3-123005547-T-C p.Val864Val synonymous ADCY5 2 83224 2.40315E-5 41612 0 3.19203E-5
3-123005553-G-A p.Thr862Thr synonymous ADCY5 2 83234 2.40286E-5 41617 0 6.3804E-5
3-123005565-G-A p.Arg858Arg synonymous ADCY5 2 83238 2.40275E-5 41619 0 2.79414E-5
3-123005566-C-T p.Arg858His missense ADCY5 1 83238 1.20137E-5 41619 0 NA
3-123005576-C-T p.Val855Met missense ADCY5 2 83238 2.40275E-5 41619 0 NA
3-123005577-G-A p.Asn854Asn synonymous ADCY5 8 83232 9.61169E-5 41616 0 1.91583E-4
3-123005601-G-A p.Tyr846Tyr synonymous ADCY5 5 83202 6.00947E-5 41601 0 4.3908E-5
3-123005640-G-A p.Pro833Pro synonymous ADCY5 5 82926 6.02947E-5 41463 0 4.29701E-5
3-123005646-G-A p.Ile831Ile synonymous ADCY5 4 82834 4.82893E-5 41417 0 5.03525E-4
3-123005658-T-A c.2483-2A>T splice_acceptor ADCY5 1 82680 1.20948E-5 41340 0 NA
3-123008592-C-T c.2482+5G>A splice_region ADCY5 1 83070 1.2038E-5 41535 0 NA
3-123008670-G-A p.Asp803Asp synonymous ADCY5 1 83342 1.19988E-5 41671 0 NA
3-123008672-C-T p.Asp803Asn missense ADCY5 3 83336 3.59988E-5 41668 0 8.23682E-5
3-123008679-T-C p.Ala800Ala synonymous ADCY5 1 83334 1.19999E-5 41667 0 3.18532E-5
3-123008693-T-C p.Thr796Ala missense ADCY5 2 83322 2.40033E-5 41661 0 8.2375E-6
3-123008701-A-G p.Val793Ala missense ADCY5 1 83314 1.20028E-5 41657 0 3.97633E-6
3-123008706-G-A p.Asp791Asp synonymous ADCY5 1 83316 1.20025E-5 41658 0 NA
3-123008709-G-A p.Tyr790Tyr synonymous ADCY5 56 83306 6.7222E-4 41653 2 8.50935E-4
3-123008720-C-T p.Asp787Asn missense ADCY5 3 83282 3.60222E-5 41641 0 3.29592E-5
3-123008727-G-A p.Gly784Gly synonymous ADCY5 6 83260 7.20634E-5 41630 0 6.36239E-5
3-123008729-C-T p.Gly784Ser missense ADCY5 1 83246 1.20126E-5 41623 0 8.24158E-6
3-123008730-G-A p.Ser783Ser synonymous ADCY5 1 83258 1.20109E-5 41629 0 4.12038E-5
3-123008736-A-G p.Ala781Ala synonymous ADCY5 2 83244 2.40258E-5 41622 0 1.98825E-5
3-123008748-G-A p.Ser777Ser synonymous ADCY5 1 83238 1.20137E-5 41619 0 8.24701E-6
3-123008754-G-A p.Ile775Ile synonymous ADCY5 108 83276 0.00129689 41638 0 0.00315528
3-123008757-G-A p.Thr774Thr synonymous ADCY5 1 83284 1.20071E-5 41642 0 NA
3-123008762-T-C p.Lys773Glu missense ADCY5 1 83278 1.2008E-5 41639 0 NA
3-123008779-C-T p.Arg767Gln missense ADCY5 2 83250 2.4024E-5 41625 0 7.95608E-6
3-123008785-C-T p.Arg765Gln missense ADCY5 2 83238 2.40275E-5 41619 0 6.37552E-5
3-123008786-G-A p.Arg765Trp missense ADCY5 2 83234 2.40286E-5 41617 0 6.25E-4
3-123008786-G-T p.Arg765Arg synonymous ADCY5 2 83234 2.40286E-5 41617 0 NA
3-123008790-C-T p.Glu763Glu synonymous ADCY5 1 83230 1.20149E-5 41615 0 NA
3-123008791-T-C p.Glu763Gly missense ADCY5 3 83224 3.60473E-5 41612 0 3.18796E-5
3-123008792-C-T p.Glu763Lys missense ADCY5 1 83228 1.20152E-5 41614 0 1.59218E-5
3-123008793-G-A p.Ser762Ser synonymous ADCY5 18 83206 2.16331E-4 41603 0 9.24156E-4
3-123008796-G-A p.Ile761Ile synonymous ADCY5 1 83196 1.20198E-5 41598 0 NA
3-123009955-T-G c.2277+5A>C splice_region ADCY5 12 80916 1.48302E-4 40458 0 1.27356E-4
3-123009975-G-A p.Ile754Ile synonymous ADCY5 4 81194 4.92647E-5 40597 0 0.00151057
3-123010005-G-A p.Val744Val synonymous ADCY5 4 81764 4.89213E-5 40882 0 9.55171E-5
3-123010014-G-A p.Asn741Asn synonymous ADCY5 7 82236 8.51209E-5 41118 0 6.37064E-5
3-123010026-C-T p.Leu737Leu synonymous ADCY5 1 82532 1.21165E-5 41266 0 NA
3-123010034-C-T p.Val735Ile missense ADCY5 17 82602 2.05806E-4 41301 0 6.25E-4
3-123010035-G-A p.Tyr734Tyr synonymous ADCY5 6 82628 7.26146E-5 41314 0 1.98924E-5
3-123010044-G-A p.Ser731Ser synonymous ADCY5 6 82744 7.25128E-5 41372 0 1.03424E-4
3-123010050-G-A p.Asn729Asn synonymous ADCY5 3 82784 3.62389E-5 41392 0 NA
3-123010065-G-A p.Phe724Phe synonymous ADCY5 1 82750 1.20846E-5 41375 0 1.19323E-5
3-123010074-C-T p.Ala721Ala synonymous ADCY5 10 82764 1.20825E-4 41382 0 0.00100705
3-123010075-G-A p.Ala721Val missense ADCY5 2 82760 2.41663E-5 41380 0 3.97716E-6
3-123010077-C-T p.Val720Val synonymous ADCY5 1 82796 1.20779E-5 41398 0 1.98859E-5
3-123010096-T-C p.Tyr714Cys missense ADCY5 1 82678 1.20951E-5 41339 0 3.97728E-6
3-123010104-C-T p.Glu711Glu synonymous ADCY5 5 82552 6.05679E-5 41276 0 1.91156E-4
3-123010114-C-T p.Arg708His missense ADCY5 5 82182 6.08406E-5 41091 0 3.18573E-5
3-123010115-G-A p.Arg708Cys missense ADCY5 4 82096 4.87234E-5 41048 0 2.47308E-5
3-123010116-C-A p.Arg707Arg synonymous ADCY5 1 82088 1.2182E-5 41044 0 NA
3-123010117-C-T p.Arg707Gln missense ADCY5 1 82036 1.21898E-5 41018 0 3.18552E-5
3-123010122-G-A p.Arg705Arg synonymous ADCY5 1 81824 1.22214E-5 40912 0 8.24416E-6
3-123010139-C-T p.Ala700Thr missense ADCY5 6 81320 7.37826E-5 40660 0 6.59707E-5
3-123010140-G-A p.Ala699Ala synonymous ADCY5 8 81272 9.84349E-5 40636 0 6.77728E-5
3-123010146-G-A p.Asp697Asp synonymous ADCY5 2 81272 2.46087E-5 40636 0 3.98889E-5
3-123010174-C-T p.Arg688Gln missense ADCY5 4 80972 4.93998E-5 40486 0 3.18593E-5
3-123010178-G-A p.Arg687Trp missense ADCY5 2 80984 2.46962E-5 40492 0 6.37267E-5
3-123014927-C-T c.2013+4G>A splice_region ADCY5 1 82612 1.21048E-5 41306 0 8.00115E-6
3-123014936-G-A p.Leu670Leu synonymous ADCY5 1 82766 1.20823E-5 41383 0 NA
3-123014943-G-A p.Leu667Leu synonymous ADCY5 8 82898 9.65041E-5 41449 0 1.27502E-4
3-123014952-G-A p.Leu664Leu synonymous ADCY5 1 83010 1.20467E-5 41505 0 2.48275E-5
3-123014979-G-T p.Ala655Ala synonymous ADCY5 527 83082 0.00634313 41541 10 0.0125056
3-123014981-C-T p.Ala655Thr missense ADCY5 1 83076 1.20372E-5 41538 0 7.96533E-6
3-123014982-G-A p.His654His synonymous ADCY5 114 83086 0.00137207 41543 1 0.00271254
3-123014994-G-A p.Ala650Ala synonymous ADCY5 2 83114 2.40633E-5 41557 0 NA
3-123014995-G-A p.Ala650Val missense ADCY5 1 83100 1.20337E-5 41550 0 NA
3-123015002-C-T p.Val648Met missense ADCY5 1 83106 1.20328E-5 41553 0 NA
3-123015007-A-C p.Val646Gly missense ADCY5 1 83102 1.20334E-5 41551 0 3.98076E-6
3-123015012-G-A p.Ile644Ile synonymous ADCY5 2 83078 2.40738E-5 41539 0 1.1944E-5
3-123015024-C-T p.Thr640Thr synonymous ADCY5 1 82916 1.20604E-5 41458 0 3.19203E-5
3-123015025-G-A p.Thr640Met missense ADCY5 1 82906 1.20619E-5 41453 0 8.25682E-6
3-123015026-T-C p.Thr640Ala missense ADCY5 1 82868 1.20674E-5 41434 0 1.65142E-5
3-123015032-C-T p.Val638Met missense ADCY5 1 82788 1.2079E-5 41394 0 NA
3-123015038-A-G p.Leu636Leu synonymous ADCY5 1 82638 1.2101E-5 41319 0 8.26064E-6
3-123015045-C-T p.Lys633Lys synonymous ADCY5 14 82404 1.69895E-4 41202 0 6.25E-4
3-123015048-G-T p.Thr632Thr synonymous ADCY5 1 82272 1.21548E-5 41136 0 NA
3-123015049-G-A p.Thr632Ile missense ADCY5 4 82208 4.86571E-5 41104 0 NA
3-123015053-C-T p.Ala631Thr missense ADCY5 1 81980 1.21981E-5 40990 0 2.48201E-5
3-123015055-T-C p.His630Arg missense ADCY5 1 81960 1.22011E-5 40980 0 8.27636E-6
3-123015824-C-T c.1904+3G>A splice_region ADCY5 3 76408 3.92629E-5 38204 0 2.97694E-5
3-123015825-G-A c.1904+2C>T splice_donor ADCY5 1 76404 1.30883E-5 38202 0 3.18674E-5
3-123015826-C-A c.1904+1G>T splice_donor ADCY5 1 76432 1.30835E-5 38216 0 NA
3-123015847-G-C p.Pro628Pro synonymous ADCY5 1 76578 1.30586E-5 38289 0 7.42457E-6
3-123015854-T-A p.Tyr626Phe missense ADCY5 1 76650 1.30463E-5 38325 0 NA
3-123015866-T-G p.Glu622Ala missense ADCY5 1 76848 1.30127E-5 38424 0 NA
3-123015870-T-C p.Met621Val missense ADCY5 2 76958 2.59882E-5 38479 0 NA
3-123015892-A-G p.Cys613Cys synonymous ADCY5 1 77522 1.28996E-5 38761 0 NA
3-123015896-AG-A p.Leu612fs frameshift ADCY5 1 77680 1.28733E-5 38840 0 NA
3-123015899-C-T p.Ser611Asn missense+splice_region ADCY5 2 77716 2.57347E-5 38858 0 NA
3-123015907-G-A c.1830-6C>T splice_region ADCY5 1 78118 1.28011E-5 39059 0 1.48008E-5
3-123016194-A-G c.1880+6T>C splice_region ADCY5 2 82694 2.41856E-5 41347 0 8.23737E-6
3-123016204-G-A p.Gln626* stop_gained ADCY5 1 82756 1.20837E-5 41378 0 NA
3-123016213-C-T p.Gly623Arg missense ADCY5 2 82752 2.41686E-5 41376 0 3.18299E-5
3-123016214-G-A p.Asn622Asn synonymous ADCY5 1 82768 1.2082E-5 41384 0 NA
3-123016215-T-C p.Asn622Ser missense ADCY5 1 82784 1.20796E-5 41392 0 NA
3-123016217-G-C p.Asn621Lys missense ADCY5 1 82774 1.20811E-5 41387 0 NA
3-123016219-TGAA-T p.Phe620del conservative_inframe_deletion ADCY5 2 82780 2.41604E-5 41390 0 1.64766E-5
3-123016227-T-A p.Asp618Val missense+splice_region ADCY5 2 82778 2.4161E-5 41389 0 NA
3-123018962-C-T c.1850+5G>A splice_region ADCY5 1 81944 1.22035E-5 40972 0 8.34446E-6
3-123018962-CA-TG c.1850+4_1850+5delTGinsCA splice_region ADCY5 1 81944 1.22035E-5 40972 0 NA
3-123018963-A-G c.1850+4T>C splice_region ADCY5 60940 77680 0.784501 38840 24023 0.80691
3-123018977-C-T p.Ala614Thr missense ADCY5 2 82278 2.43078E-5 41139 0 2.4876E-5
3-123018977-C-A p.Ala614Ser missense ADCY5 2 82278 2.43078E-5 41139 0 9.97319E-5
3-123018978-G-A p.Thr613Thr synonymous ADCY5 1 82316 1.21483E-5 41158 0 9.55292E-5
3-123018983-CCAG-C p.Leu611del conservative_inframe_deletion ADCY5 1 82394 1.21368E-5 41197 0 NA
3-123018993-G-A p.Ala608Ala synonymous ADCY5 1 82418 1.21333E-5 41209 0 1.65785E-5
3-123018995-C-T p.Ala608Thr missense ADCY5 1 82418 1.21333E-5 41209 0 8.28885E-6
3-123018996-G-A p.Asn607Asn synonymous ADCY5 12 82462 1.45522E-4 41231 0 6.25E-4
3-123019001-C-T p.Asp606Asn missense ADCY5 75 82458 9.09554E-4 41229 1 0.00302115
3-123019002-G-A p.Phe605Phe synonymous ADCY5 5 82458 6.06369E-5 41229 0 1.5748E-4
3-123019008-C-T p.Thr603Thr synonymous ADCY5 3 82474 3.63751E-5 41237 1 7.96584E-6
3-123019009-G-A p.Thr603Met missense ADCY5 1 82492 1.21224E-5 41246 0 3.31614E-5
3-123019022-C-T p.Val599Met missense ADCY5 24 82404 2.91248E-4 41202 0 1.49306E-4
3-123019029-G-A p.Ile596Ile synonymous ADCY5 18 82388 2.18478E-4 41194 0 1.32765E-4
3-123019033-A-G p.Leu595Pro missense ADCY5 2 82378 2.42783E-5 41189 0 3.18512E-5
3-123019037-C-T p.Val594Met missense ADCY5 7 82312 8.50423E-5 41156 0 3.18471E-5
3-123019038-G-A p.Tyr593Tyr synonymous ADCY5 2 82324 2.42943E-5 41162 0 5.03525E-4
3-123019039-T-A p.Tyr593Phe missense ADCY5 4 82314 4.85944E-5 41157 0 8.30427E-6
3-123019042-A-T p.Ile592Asn missense ADCY5 4 82288 4.86098E-5 41144 0 6.25E-4
3-123019049-C-T p.Glu590Lys missense ADCY5 46 82136 5.60047E-4 41068 0 0.001396
3-123019050-G-A p.Ile589Ile synonymous ADCY5 2 82122 2.4354E-5 41061 0 8.31034E-6
3-123019054-G-A p.Ala588Val missense ADCY5 1 82066 1.21853E-5 41033 0 NA
3-123019067-C-T p.Val584Met missense ADCY5 1 81792 1.22261E-5 40896 0 NA
3-123019076-C-T p.Gly581Arg missense ADCY5 1 81324 1.22965E-5 40662 0 1.19656E-5
3-123019087-A-T p.Ile577Asn missense ADCY5 3 80844 3.71085E-5 40422 0 9.17519E-5
3-123019089-C-G p.Gln576His missense ADCY5 1 80722 1.23882E-5 40361 0 3.9894E-6
3-123019104-G-A p.Cys571Cys synonymous ADCY5 8 79454 1.00687E-4 39727 0 5.09619E-4
3-123019107-G-C p.Ala570Ala synonymous ADCY5 2 79170 2.52621E-5 39585 0 NA
3-123019109-C-A p.Ala570Ser missense ADCY5 1 78864 1.26801E-5 39432 0 6.25E-4
3-123019112-G-C p.Leu569Val missense ADCY5 7 78640 8.90132E-5 39320 0 2.2293E-4
3-123019115-G-A p.Leu568Leu synonymous ADCY5 1 78354 1.27626E-5 39177 0 NA
3-123019127-C-T p.Val564Met missense ADCY5 6 76536 7.83945E-5 38268 0 1.20332E-5
3-123019146-C-T c.1675-4G>A splice_region ADCY5 2 72346 2.76449E-5 36173 0 4.86239E-5
3-123019149-G-A c.1675-7C>T splice_region ADCY5 18 71682 2.51109E-4 35841 0 9.55475E-5
3-123021896-C-T c.1674+6G>A splice_region ADCY5 8 81530 9.81234E-5 40765 0 6.41077E-5
3-123021905-G-A p.Pro557Pro synonymous ADCY5 10 81854 1.22169E-4 40927 0 6.37146E-5
3-123021905-G-C p.Pro557Pro synonymous ADCY5 1 81854 1.22169E-5 40927 0 6.37146E-5
3-123021924-C-G p.Trp551Ser missense ADCY5 2 82104 2.43593E-5 41052 0 NA
3-123021927-G-A p.Pro550Leu missense ADCY5 1 82166 1.21705E-5 41083 0 NA
3-123021952-C-T p.Asp542Asn missense ADCY5 22 82348 2.67159E-4 41174 0 6.25E-4
3-123021953-G-A p.Gly541Gly synonymous ADCY5 3 82336 3.64361E-5 41168 0 2.78978E-5
3-123021962-G-A p.Tyr538Tyr synonymous ADCY5 1 82370 1.21403E-5 41185 0 NA
3-123021966-T-C p.Asn537Ser missense ADCY5 2 82330 2.42925E-5 41165 0 1.19552E-5
3-123021970-C-T p.Val536Ile missense ADCY5 1 82298 1.2151E-5 41149 0 1.66284E-5
3-123021971-G-A p.Ala535Ala synonymous ADCY5 1 82244 1.21589E-5 41122 0 9.55536E-5
3-123021974-C-T p.Ser534Ser synonymous ADCY5 2 82204 2.43297E-5 41102 0 3.18715E-5
3-123021977-C-T p.Glu533Glu synonymous ADCY5 1 82234 1.21604E-5 41117 0 5.82043E-5
3-123021980-C-T p.Ala532Ala synonymous ADCY5 2 82260 2.43132E-5 41130 0 2.78949E-5
3-123021981-G-A p.Ala532Val missense ADCY5 29 82240 3.52626E-4 41120 0 2.57818E-4
3-123021985-C-G p.Val531Leu missense ADCY5 1 82226 1.21616E-5 41113 0 3.98486E-6
3-123021985-C-T p.Val531Met missense ADCY5 1 82226 1.21616E-5 41113 0 6.37146E-5
3-123021986-G-A p.His530His synonymous ADCY5 7 82218 8.51395E-5 41109 0 6.25E-4
3-123021993-G-C p.Ala528Gly missense ADCY5 2 82182 2.43362E-5 41091 0 NA
3-123021994-C-A p.Ala528Ser missense ADCY5 5 82136 6.08746E-5 41068 0 0.00100705
3-123021994-C-T p.Ala528Thr missense ADCY5 2 82136 2.43499E-5 41068 0 1.66459E-5
3-123021995-G-A p.Asn527Asn synonymous ADCY5 6 82146 7.30407E-5 41073 0 3.91223E-4
3-123021996-T-C p.Asn527Ser missense ADCY5 1 82146 1.21734E-5 41073 0 NA
3-123022002-T-C p.Gln525Arg missense ADCY5 2 82156 2.43439E-5 41078 0 1.5831E-4
3-123022006-TC-GT p.AlaSer523AlaArg missense ADCY5 5 82098 6.09028E-5 41049 0 NA
3-123022006-T-G p.Ser524Arg missense ADCY5 1 82098 1.21806E-5 41049 0 7.17154E-5
3-123022006-T-C p.Ser524Gly missense ADCY5 3 82098 3.65417E-5 41049 0 1.27437E-4
3-123022007-C-T p.Ala523Ala synonymous ADCY5 4 82058 4.8746E-5 41029 0 1.27429E-4
3-123022009-C-T p.Ala523Thr missense ADCY5 3 81992 3.65889E-5 40996 0 4.38383E-5
3-123022010-G-A p.Ser522Ser synonymous ADCY5 1 82016 1.21927E-5 41008 0 3.98613E-5
3-123022030-C-T p.Ala516Thr missense ADCY5 1 81814 1.22228E-5 40907 0 8.37844E-6
3-123022033-A-T p.Leu515Met missense ADCY5 2 81780 2.44559E-5 40890 0 1.67811E-5
3-123022035-C-A p.Cys514Phe missense ADCY5 1 81716 1.22375E-5 40858 0 8.39222E-6
3-123022061-C-T p.Thr505Thr synonymous ADCY5 2 80764 2.47635E-5 40382 0 1.11479E-4
3-123022062-G-A p.Thr505Met missense ADCY5 1 80760 1.23824E-5 40380 0 5.03525E-4
3-123022064-G-C p.Phe504Leu missense+splice_region ADCY5 1 80672 1.23959E-5 40336 0 NA
3-123022068-T-TG c.1510-3_1510-2insC splice_region ADCY5 1 80344 1.24465E-5 40172 0 8.68101E-6
3-123022070-G-C c.1510-4C>G splice_region ADCY5 1 80366 1.24431E-5 40183 0 4.02156E-6
3-123022070-G-A c.1510-4C>T splice_region ADCY5 1 80366 1.24431E-5 40183 0 8.72692E-6
3-123022071-G-A c.1510-5C>T splice_region ADCY5 1 80284 1.24558E-5 40142 0 2.61702E-5
3-123022906-C-T c.1509+8G>A splice_region ADCY5 1 82714 1.20899E-5 41357 0 NA
3-123022922-C-T p.Val501Ile missense ADCY5 1 83066 1.20386E-5 41533 0 NA
3-123022929-C-T p.Ala498Ala synonymous ADCY5 1 83138 1.20282E-5 41569 0 7.95653E-6
3-123022930-G-T p.Ala498Glu missense ADCY5 1 83140 1.20279E-5 41570 0 NA
3-123022938-C-T p.Val495Val synonymous ADCY5 1 83174 1.2023E-5 41587 0 3.97795E-6
3-123022940-C-T p.Val495Met missense ADCY5 1 83164 1.20244E-5 41582 0 NA
3-123022959-C-A p.Gly488Gly synonymous ADCY5 1 83140 1.20279E-5 41570 0 1.65276E-5
3-123022963-A-G p.Val487Ala missense ADCY5 2 83108 2.40651E-5 41554 0 NA
3-123022964-C-A p.Val487Phe missense ADCY5 1 83102 1.20334E-5 41551 0 6.38447E-5
3-123022974-G-A p.Asn483Asn synonymous ADCY5 4 83032 4.81742E-5 41516 0 8.28048E-6
3-123022986-C-T p.Arg479Arg synonymous ADCY5 1 82842 1.20712E-5 41421 0 3.97924E-6
3-123022987-C-T p.Arg479Gln missense ADCY5 3 82776 3.62424E-5 41388 0 1.60411E-4
3-123022987-C-G p.Arg479Pro missense ADCY5 1 82776 1.20808E-5 41388 0 3.32579E-5
3-123022988-G-A p.Arg479Trp missense ADCY5 1 82728 1.20878E-5 41364 0 3.32834E-5
3-123022992-G-T p.Ile477Ile synonymous ADCY5 216 82584 0.00261552 41292 8 0.00883102
3-123022992-G-A p.Ile477Ile synonymous ADCY5 1 82590 1.2108E-5 41295 0 8.35268E-6
3-123022999-C-T p.Arg475Lys missense ADCY5 2 82228 2.43226E-5 41114 1 NA
3-123023001-G-A p.Ser474Ser synonymous ADCY5 2 82164 2.43416E-5 41082 0 1.99194E-5
3-123023006-G-C p.Leu473Val missense ADCY5 3 81774 3.66865E-5 40887 0 4.23549E-5
3-123023013-C-T p.Leu470Leu synonymous ADCY5 3 80724 3.71637E-5 40362 0 5.166E-5
3-123023018-G-A p.Pro469Ser missense ADCY5 1 80490 1.24239E-5 40245 0 2.80312E-5
3-123023024-G-A p.Pro467Ser missense ADCY5 1 79714 1.25448E-5 39857 0 2.82097E-5
3-123033083-T-C p.Lys464Arg missense+splice_region ADCY5 3 83112 3.60959E-5 41556 0 3.18532E-5
3-123033087-C-T p.Val463Ile missense ADCY5 1 83106 1.20328E-5 41553 0 6.25E-4
3-123033088-G-A p.Cys462Cys synonymous ADCY5 2 83124 2.40604E-5 41562 0 5.45147E-5
3-123033095-T-G p.Tyr460Ser missense ADCY5 1 83156 1.20256E-5 41578 0 NA
3-123033132-G-A p.Leu448Leu synonymous ADCY5 2 83178 2.40448E-5 41589 0 NA
3-123033139-G-A p.Thr445Thr synonymous ADCY5 2 83148 2.40535E-5 41574 0 3.98778E-6
3-123033146-T-C p.Tyr443Cys missense ADCY5 1 83114 1.20317E-5 41557 0 NA
3-123033147-A-G p.Tyr443His missense ADCY5 3 83112 3.60959E-5 41556 0 1.59236E-4
3-123033151-G-A p.Ser441Ser synonymous ADCY5 4 83086 4.81429E-5 41543 0 4.55872E-5
3-123033155-A-T p.Leu440His missense ADCY5 2 83038 2.40854E-5 41519 0 NA
3-123033165-T-C p.Ile437Val missense ADCY5 1 82944 1.20563E-5 41472 0 NA
3-123033169-G-A p.His435His splice_region+synonymous ADCY5 3 82870 3.62013E-5 41435 0 3.18471E-5
3-123033172-G-A c.1305-3C>T splice_region ADCY5 1 82818 1.20747E-5 41409 0 4.04433E-6
3-123036874-C-T p.Val433Met missense ADCY5 28 82818 3.38091E-4 41409 0 0.00106178
3-123036875-G-A p.Ile432Ile synonymous ADCY5 2 82856 2.41383E-5 41428 0 5.80576E-5
3-123036877-T-C p.Ile432Val missense ADCY5 3 82892 3.61917E-5 41446 0 6.37674E-5
3-123036910-C-T p.Val421Ile missense ADCY5 10 83106 1.20328E-4 41553 0 0.001875
3-123036914-C-T p.Ser419Ser synonymous ADCY5 21 83106 2.52689E-4 41553 0 1.65615E-4
3-123036914-C-A p.Ser419Ser synonymous ADCY5 3 83106 3.60985E-5 41553 0 1.65615E-5
3-123036919-C-T p.Ala418Thr missense ADCY5 2 83124 2.40604E-5 41562 0 1.19401E-5
3-123036920-A-C p.Cys417Trp missense ADCY5 3 83134 3.60863E-5 41567 0 8.28404E-6
3-123036923-C-T p.Ala416Ala synonymous ADCY5 5 83128 6.01482E-5 41564 0 5.04541E-4
3-123036923-C-G p.Ala416Ala synonymous ADCY5 3 83128 3.60889E-5 41564 0 NA
3-123036924-G-A p.Ala416Val missense ADCY5 1 83116 1.20314E-5 41558 0 1.19412E-5
3-123036930-T-C p.Tyr414Cys missense ADCY5 1 83114 1.20317E-5 41557 0 1.65926E-5
3-123036942-C-A p.Arg410Leu missense ADCY5 1 83038 1.20427E-5 41519 0 7.96115E-6
3-123036943-GGTC-G p.Asp409del conservative_inframe_deletion ADCY5 18 83016 2.16826E-4 41508 0 2.42832E-4
3-123036950-T-A p.Val407Val synonymous ADCY5 1 82972 1.20523E-5 41486 0 NA
3-123036956-C-T p.Lys405Lys synonymous ADCY5 1 82888 1.20645E-5 41444 0 NA
3-123036969-G-A c.1207-5C>T splice_region ADCY5 1 82664 1.20972E-5 41332 0 NA
3-123038516-T-A c.1206+5A>T splice_region ADCY5 2 83094 2.40691E-5 41547 0 NA
3-123038517-G-A c.1206+4C>T splice_region ADCY5 2 83094 2.40691E-5 41547 0 7.96337E-6
3-123038539-C-A p.Glu396Asp missense ADCY5 11 83212 1.32192E-4 41606 0 6.37105E-5
3-123038563-G-T p.Arg388Arg synonymous ADCY5 3 83264 3.603E-5 41632 0 1.65155E-5
3-123038602-G-A p.Asp375Asp synonymous ADCY5 143 83232 0.00171809 41616 1 0.00755287
3-123038615-C-G p.Gly371Ala missense ADCY5 3 83196 3.60594E-5 41598 0 4.95917E-5
3-123038631-C-A p.Val366Leu missense ADCY5 1 83216 1.20169E-5 41608 0 NA
3-123038644-G-T p.Asn361Lys missense ADCY5 2 83170 2.40471E-5 41585 0 NA
3-123038648-G-C p.Ala360Gly missense ADCY5 2 83122 2.4061E-5 41561 0 3.98111E-6
3-123038660-G-A p.Ala356Val missense ADCY5 1 83050 1.20409E-5 41525 0 NA
3-123038661-C-T p.Ala356Thr missense ADCY5 4 83026 4.81777E-5 41513 0 1.2738E-4
3-123038662-G-A p.Asn355Asn synonymous ADCY5 6 83010 7.22804E-5 41505 0 1.08222E-4
3-123038671-G-A c.1062-6C>T splice_region ADCY5 2 82944 2.41127E-5 41472 0 1.19607E-5
3-123038671-GAGC-G c.1062-9_1062-7delGCT splice_region ADCY5 1 82944 1.20563E-5 41472 0 NA
3-123039602-T-C p.Lys352Arg missense ADCY5 1 83114 1.20317E-5 41557 0 3.98721E-6
3-123039616-G-A p.Gly347Gly splice_region+synonymous ADCY5 1 83022 1.2045E-5 41511 0 NA
3-123039622-G-A c.1039-4C>T splice_region ADCY5 1 82934 1.20578E-5 41467 0 NA
3-123044166-C-T c.1038+3G>A splice_region ADCY5 2 82866 2.41354E-5 41433 0 3.98191E-6
3-123044174-G-A p.Arg345Trp missense ADCY5 1 82954 1.20549E-5 41477 0 3.9795E-6
3-123044190-C-T p.Val339Val synonymous ADCY5 1 83070 1.2038E-5 41535 0 NA
3-123044220-G-A p.Pro329Pro synonymous ADCY5 1 83150 1.20265E-5 41575 0 1.64753E-5
3-123044220-G-T p.Pro329Pro synonymous ADCY5 2 83150 2.40529E-5 41575 0 NA
3-123044224-C-T p.Arg328His missense ADCY5 3 83146 3.60811E-5 41573 0 3.97678E-5
3-123044225-G-A p.Arg328Cys missense ADCY5 5 83156 6.0128E-5 41578 0 3.1814E-5
3-123044233-C-A p.Gly325Val missense ADCY5 1 83160 1.2025E-5 41580 0 NA
3-123044255-C-T p.Gly318Arg missense ADCY5 2 83136 2.4057E-5 41568 0 3.97674E-6
3-123044256-G-A p.Ile317Ile synonymous ADCY5 2 83120 2.40616E-5 41560 0 4.94397E-5
3-123044259-G-A p.Ser316Ser synonymous ADCY5 7 83142 8.41933E-5 41571 0 5.56744E-5
3-123044262-G-A p.Asn315Asn synonymous ADCY5 2 83152 2.40523E-5 41576 0 1.40084E-4
3-123044264-T-C p.Asn315Asp missense ADCY5 2 83158 2.40506E-5 41579 0 NA
3-123044280-C-T p.Met309Ile missense ADCY5 1 83064 1.20389E-5 41532 0 3.18451E-5
3-123044287-G-A p.Ala307Val missense ADCY5 1 83018 1.20456E-5 41509 0 3.97852E-6
3-123044288-C-T p.Ala307Thr missense ADCY5 1 82992 1.20494E-5 41496 0 6.37105E-5
3-123044289-G-A p.Ile306Ile synonymous ADCY5 1 82980 1.20511E-5 41490 0 1.27405E-4
3-123044294-T-C p.Met305Val missense ADCY5 1 82968 1.20528E-5 41484 0 1.65019E-5
3-123044312-G-A c.898-3C>T splice_region ADCY5 1 82804 1.20767E-5 41402 0 NA
3-123046459-A-T c.897+6T>A splice_region ADCY5 1 82664 1.20972E-5 41332 0 9.56572E-5
3-123046468-C-G p.Lys298Asn missense ADCY5 1 82678 1.20951E-5 41339 0 NA
3-123046477-G-A p.Cys295Cys synonymous ADCY5 8 82726 9.67048E-5 41363 0 4.30026E-5
3-123046481-C-T p.Arg294His missense ADCY5 1 82774 1.20811E-5 41387 0 2.56625E-5
3-123046489-G-A p.Leu291Leu synonymous ADCY5 5 82850 6.035E-5 41425 0 4.23801E-5
3-123046500-C-T p.Glu288Lys missense ADCY5 2 82856 2.41383E-5 41428 0 NA
3-123046501-G-A p.Ile287Ile synonymous ADCY5 1 82876 1.20662E-5 41438 0 6.72506E-5
3-123046510-C-G p.Glu284Asp missense ADCY5 453 82962 0.00546033 41481 2 0.0070427
3-123046516-G-C p.Leu282Leu synonymous ADCY5 3 82970 3.61576E-5 41485 0 NA
3-123046523-G-A p.Ala280Val missense ADCY5 1 82966 1.20531E-5 41483 0 NA
3-123046524-C-T p.Ala280Thr missense ADCY5 1 82952 1.20552E-5 41476 0 2.50054E-5
3-123046525-G-A p.Asn279Asn synonymous ADCY5 6 82976 7.23101E-5 41488 0 2.03019E-4
3-123046526-T-C p.Asn279Ser missense ADCY5 1 82972 1.20523E-5 41486 0 3.98064E-6
3-123046534-G-A p.Gly276Gly synonymous ADCY5 3 82988 3.61498E-5 41494 0 1.66364E-5
3-123046558-G-A p.Tyr268Tyr synonymous ADCY5 4 83070 4.81522E-5 41535 0 3.31603E-5
3-123046564-C-T p.Gly266Gly synonymous ADCY5 1 83106 1.20328E-5 41553 0 8.285E-6
3-123046573-G-A p.Tyr263Tyr synonymous ADCY5 717 83118 0.00862629 41559 23 0.02625
3-123046609-A-G c.756-3T>C splice_region ADCY5 2 83038 2.40854E-5 41519 0 4.15545E-5
3-123046613-G-C c.756-7C>G splice_region ADCY5 6 83000 7.22892E-5 41500 0 6.25E-4
3-123046613-G-A c.756-7C>T splice_region ADCY5 1 83000 1.20482E-5 41500 0 1.19784E-5
3-123046613-G-T c.756-7C>A splice_region ADCY5 1 83000 1.20482E-5 41500 0 4.15897E-5
3-123046614-G-C c.756-8C>G splice_region ADCY5 9 82998 1.08436E-4 41499 0 4.98977E-5
3-123047493-T-C p.Ala251Ala splice_region+synonymous ADCY5 2 82918 2.41202E-5 41459 0 NA
3-123047502-G-A p.Gly248Gly synonymous ADCY5 2 83002 2.40958E-5 41501 0 3.18552E-5
3-123047502-G-T p.Gly248Gly synonymous ADCY5 1 83002 1.20479E-5 41501 0 9.55657E-5
3-123047523-T-C p.Leu241Leu synonymous ADCY5 2 83184 2.40431E-5 41592 0 6.25E-4
3-123047526-C-T p.Thr240Thr synonymous ADCY5 3 83198 3.60586E-5 41599 0 3.18471E-5
3-123047535-G-A p.Asn237Asn synonymous ADCY5 1 83232 1.20146E-5 41616 0 1.59098E-5
3-123047547-G-A p.Asp233Asp synonymous ADCY5 4 83224 4.80631E-5 41612 0 6.36699E-5
3-123047550-G-A p.Phe232Phe synonymous ADCY5 1 83230 1.20149E-5 41615 0 2.47223E-5
3-123047562-C-T p.Arg228Arg synonymous ADCY5 1 83268 1.20094E-5 41634 0 1.64799E-5
3-123047576-C-T p.Val224Ile missense ADCY5 2 83278 2.40159E-5 41639 0 NA
3-123047580-G-A p.Cys222Cys synonymous ADCY5 11 83274 1.32094E-4 41637 0 2.96604E-4
3-123047595-G-A p.Ser217Ser synonymous ADCY5 4 83268 4.80377E-5 41634 0 3.1841E-5
3-123047619-C-G p.Val209Val synonymous ADCY5 1 83230 1.20149E-5 41615 0 NA
3-123047622-G-A p.Asn208Asn synonymous ADCY5 3 83208 3.60542E-5 41604 0 1.23349E-4
3-123047629-CCT-C p.Val207fs frameshift ADCY5 2 83164 2.40489E-5 41582 0 NA
3-123047631-T-C p.Thr205Thr synonymous ADCY5 2 83156 2.40512E-5 41578 0 1.99014E-5
3-123047642-G-A p.Arg202Trp missense ADCY5 1 83058 1.20398E-5 41529 0 NA
3-123049747-G-A p.Ile195Ile synonymous ADCY5 3 83108 3.60976E-5 41554 0 6.25E-4
3-123049783-G-A p.His183His synonymous ADCY5 4 83224 4.80631E-5 41612 0 1.65191E-5
3-123049810-C-T p.Ser174Ser synonymous ADCY5 2 83300 2.40096E-5 41650 0 4.95409E-5
3-123049816-G-A p.Cys172Cys synonymous ADCY5 19 83298 2.28097E-4 41649 0 0.0020202
3-123049822-A-G p.Tyr170Tyr synonymous ADCY5 1 83304 1.20042E-5 41652 0 1.19356E-5
3-123051429-G-A p.Arg150Arg synonymous ADCY5 63 82196 7.66461E-4 41098 0 0.00100705
3-123051430-C-T p.Arg150His missense ADCY5 1 82170 1.21699E-5 41085 0 NA
3-123051431-G-A p.Arg150Cys missense ADCY5 1 82194 1.21663E-5 41097 0 NA
3-123051435-G-A p.Phe148Phe synonymous ADCY5 9 82236 1.09441E-4 41118 0 1.91168E-4
3-123051483-C-T p.Ala132Ala synonymous ADCY5 3 82668 3.62897E-5 41334 0 5.98353E-5
3-123051518-G-C p.Leu121Val missense ADCY5 2 82714 2.41797E-5 41357 1 NA
3-123051526-G-A c.357-4C>T splice_region ADCY5 1 82650 1.20992E-5 41325 0 NA
3-123051529-G-C c.357-7C>G splice_region ADCY5 2 82636 2.42025E-5 41318 0 9.8226E-6
3-123066624-C-T c.356+5G>A splice_region ADCY5 1 83364 1.19956E-5 41682 0 7.95342E-6
3-123066628-C-G c.356+1G>C splice_donor ADCY5 1 83372 1.19944E-5 41686 0 NA
3-123066634-G-A p.Asn117Asn synonymous ADCY5 4 83356 4.79869E-5 41678 0 3.97665E-5
3-123066678-CC-AG p.GlnGlu102* stop_gained ADCY5 1 83358 1.19964E-5 41679 0 NA
3-123066687-C-T p.Ala100Thr missense ADCY5 2 83350 2.39952E-5 41675 0 3.18695E-5
3-123066688-G-A p.Asn99Asn synonymous ADCY5 4 83358 4.79858E-5 41679 0 9.06006E-5
3-123066689-T-C p.Asn99Ser missense ADCY5 1 83356 1.19967E-5 41678 0 8.23642E-6
3-123066696-C-G p.Asp97His missense ADCY5 1 83356 1.19967E-5 41678 0 7.95273E-6
3-123066712-G-A p.Pro76Leu missense ADCY5 1 83312 1.20031E-5 41656 0 NA
3-123066723-G-A p.Arg88Cys missense ADCY5 1 83288 1.20065E-5 41644 0 NA
3-123066724-G-A p.Pro72Leu missense ADCY5 1 83286 1.20068E-5 41643 0 NA
3-123066742-G-C p.Ser66Cys missense ADCY5 1 83256 1.20111E-5 41628 0 3.97643E-6
3-123066746-C-T p.Arg80Gln missense ADCY5 2 83236 2.40281E-5 41618 0 1.19296E-5
3-123066753-G-A c.235-3C>T splice_region ADCY5 2 83214 2.40344E-5 41607 0 1.64769E-5
3-123066756-G-A c.235-6C>T splice_region ADCY5 389 83188 0.00467616 41594 3 0.00538491
3-123066758-G-T c.235-8C>A splice_region ADCY5 71 83176 8.53612E-4 41588 0 0.00125
3-123066758-G-A c.235-8C>T splice_region ADCY5 1 83188 1.2021E-5 41594 0 NA
3-123071272-C-G c.234+7G>C splice_region ADCY5 1 82802 1.2077E-5 41401 0 NA
3-123071295-C-T p.Arg73Gln missense ADCY5 1 83004 1.20476E-5 41502 0 5.82528E-5
3-123071300-C-T p.Arg56His missense ADCY5 1 83022 1.2045E-5 41511 0 2.49008E-5
3-123071301-G-A p.Ser71Leu missense ADCY5 2 83042 2.40842E-5 41521 0 3.19463E-5
3-123071312-C-T p.Arg52His missense ADCY5 1 83110 1.20322E-5 41555 0 6.37755E-5
3-123071329-G-A p.Arg62* stop_gained ADCY5 1 83178 1.20224E-5 41589 0 3.98206E-6
3-123071330-G-T p.Pro46His missense ADCY5 1 83188 1.2021E-5 41594 0 8.2605E-6
3-123071354-G-A p.Pro38Leu missense ADCY5 3 83198 3.60586E-5 41599 0 1.71125E-4
3-123071366-C-A p.Arg34Leu missense ADCY5 3 83192 3.60612E-5 41596 0 3.18878E-5
3-123071378-G-T p.Cys45* stop_gained ADCY5 1 83196 1.20198E-5 41598 0 NA
3-123071383-C-CGTCT p.Val44fs frameshift ADCY5 1 83194 1.20201E-5 41597 0 NA
3-123071385-C-T p.Gly43Asp missense ADCY5 1 83184 1.20215E-5 41592 0 NA
3-123071389-C-T p.Val42Met missense ADCY5 9 83184 1.08194E-4 41592 0 3.38697E-4
3-123071389-C-G p.Val42Leu missense ADCY5 1 83184 1.20215E-5 41592 0 8.26091E-6
3-123071390-G-A p.Ser26Leu missense ADCY5 1 83196 1.20198E-5 41598 0 2.38998E-5
3-123071402-G-A p.Pro22Leu missense ADCY5 2 83176 2.40454E-5 41588 0 6.37471E-5
3-123071411-G-A p.Ser19Leu missense ADCY5 1 83150 1.20265E-5 41575 0 3.99968E-6
3-123071418-T-C p.Asn32Ser missense ADCY5 1 83116 1.20314E-5 41558 0 8.3167E-6
3-123086740-T-C c.38+7A>G splice_region ADCY5 1 76460 1.30787E-5 38230 0 1.63185E-4
3-123086762-G-A p.Thr8Ile missense ADCY5 1 76492 1.30733E-5 38246 0 NA
3-123086765-C-T p.Arg7His missense ADCY5 652 76438 0.00852979 38219 16 0.0167794
3-123086766-G-A p.Arg7Cys missense ADCY5 33 76482 4.31474E-4 38241 0 0.0025
3-123086767-G-A p.Phe6Phe synonymous ADCY5 1 76494 1.30729E-5 38247 0 NA
3-123086774-G-C p.Ser4Cys missense ADCY5 1 76498 1.30722E-5 38249 0 NA
3-123086780-G-A p.Ala2Val missense ADCY5 1 76500 1.30719E-5 38250 0 NA
3-123086784-T-C p.Met1? start_lost ADCY5 2 76492 2.61465E-5 38246 0 NA
3-123086792-G-A c.-8C>T 5_prime_UTR_premature_start_codon_gain ADCY5 36 76468 4.70785E-4 38234 0 0.003125
3-123086825-C-T c.-41G>A 5_prime_UTR_premature_start_codon_gain ADCY5 4 76286 5.24343E-5 38143 0 2.05714E-4
3-123086855-T-A c.-71A>T 5_prime_UTR_premature_start_codon_gain ADCY5 1777 75282 0.0236046 37641 86 0.0476312
3-123086861-C-T c.-77G>A 5_prime_UTR_premature_start_codon_gain ADCY5 689 75142 0.00916931 37571 14 0.0197099
3-123086869-G-A c.-85C>T 5_prime_UTR_premature_start_codon_gain ADCY5 64 74908 8.54381E-4 37454 0 0.00146965
3-123086892-G-T c.-108C>A splice_region ADCY5 1 73038 1.36915E-5 36519 0 NA
3-123086896-G-A c.-109-3C>T splice_region ADCY5 1 72764 1.37431E-5 36382 0 NA
3-123086900-G-C c.-109-7C>G splice_region ADCY5 170 72378 0.00234878 36189 1 0.00481997
3-123135024-C-T c.84+7G>A splice_region ADCY5 1 76066 1.31465E-5 38033 0 NA
3-123135030-C-G c.84+1G>C splice_donor ADCY5 2 76154 2.62626E-5 38077 0 NA
3-123135033-T-TC p.Arg28fs frameshift ADCY5 4 76192 5.24989E-5 38096 0 9.56084E-5
3-123135035-C-T p.Arg27Gln missense ADCY5 2 76176 2.6255E-5 38088 0 2.22952E-5
3-123135037-TG-T p.Pro26fs frameshift ADCY5 1 76256 1.31137E-5 38128 0 NA
3-123135040-G-T p.Ala25Ala synonymous ADCY5 1 76252 1.31144E-5 38126 0 8.1182E-5
3-123135044-C-T p.Trp24* stop_gained ADCY5 1 76294 1.31072E-5 38147 0 3.18735E-5
3-123135048-C-A p.Glu23* stop_gained ADCY5 1 76312 1.31041E-5 38156 0 NA
3-123135052-T-C p.Gly21Gly synonymous ADCY5 1 76326 1.31017E-5 38163 0 3.18654E-5
3-123135059-C-T p.Gly19Asp missense ADCY5 2 76338 2.61993E-5 38169 0 NA
3-123135097-CTCTT-C p.Lys5fs frameshift ADCY5 1 76342 1.30989E-5 38171 0 NA
3-123135100-T-C p.Lys5Lys synonymous ADCY5 1 76332 1.31007E-5 38166 0 6.36943E-5
3-123137671-G-C c.-153C>G 5_prime_UTR_premature_start_codon_gain ADCY5 1 1272 7.86163E-4 636 0 4.15734E-4
3-123137838-C-T c.-320G>A 5_prime_UTR_premature_start_codon_gain ADCY5 2 18274 1.09445E-4 9137 0 5.09814E-4
3-123137839-G-A c.-321C>T 5_prime_UTR_premature_start_codon_gain ADCY5 3 18412 1.62937E-4 9206 0 3.18654E-5
3-123137900-G-A c.-382C>T 5_prime_UTR_premature_start_codon_gain ADCY5 50 23282 0.00214758 11641 0 0.00133852
3-123137996-G-A c.-478C>T 5_prime_UTR_premature_start_codon_gain ADCY5 13 24268 5.35685E-4 12134 0 4.78683E-4
3-123138003-G-A c.-485C>T 5_prime_UTR_premature_start_codon_gain ADCY5 6 24272 2.47198E-4 12136 0 9.56694E-5
3-123139034-G-C c.-218C>G 5_prime_UTR_premature_start_codon_gain ADCY5 5 6 0.833333 3 2 0.679217
3-123166254-C-T c.1134+5G>A splice_region ADCY5 1 79062 1.26483E-5 39531 0 NA
3-123166261-G-A p.Gln378* stop_gained ADCY5 1 79212 1.26243E-5 39606 0 NA
3-123166263-TTCA-T p.Leu376_Lys377delinsGln disruptive_inframe_deletion ADCY5 1 79258 1.2617E-5 39629 0 2.47148E-4
3-123166273-A-T p.Phe374Ile missense ADCY5 1 79362 1.26005E-5 39681 0 1.61473E-5
3-123166285-C-A p.Ala370Ser missense ADCY5 1 79578 1.25663E-5 39789 0 2.7011E-5
3-123166294-G-A p.Arg367Cys missense ADCY5 1 79968 1.2505E-5 39984 0 NA
3-123166297-G-C p.Leu366Val missense ADCY5 1 80228 1.24645E-5 40114 0 NA
3-123166298-G-A p.Ala365Ala synonymous ADCY5 1 80194 1.24698E-5 40097 0 NA
3-123166304-G-A p.Ala363Ala synonymous ADCY5 1 80428 1.24335E-5 40214 0 NA
3-123166330-C-A p.Val355Leu missense ADCY5 2 80876 2.47292E-5 40438 0 1.23717E-4
3-123166334-G-A p.Ser353Ser synonymous ADCY5 6 80906 7.41601E-5 40453 0 1.64985E-5
3-123166345-C-A p.Ala350Ser missense ADCY5 1 81022 1.23423E-5 40511 0 3.18634E-5
3-123166346-G-A p.Ala349Ala synonymous ADCY5 4 81064 4.93437E-5 40532 0 6.37146E-5
3-123166348-C-A p.Ala349Ser missense ADCY5 1 81088 1.23323E-5 40544 0 NA
3-123166361-G-A p.Pro344Pro synonymous ADCY5 1 81312 1.22983E-5 40656 0 4.11391E-6
3-123166368-A-T p.Leu342Gln missense ADCY5 1 81440 1.2279E-5 40720 0 3.18573E-5
3-123166378-T-C p.Ile339Val missense ADCY5 1 81620 1.22519E-5 40810 0 4.10802E-6
3-123166379-G-C p.Thr338Thr synonymous ADCY5 2 81614 2.45056E-5 40807 0 6.37064E-5
3-123166397-G-A p.Thr332Thr synonymous ADCY5 14 81674 1.71413E-4 40837 0 6.25E-4
3-123166397-G-T p.Thr332Thr synonymous ADCY5 1 81674 1.22438E-5 40837 0 3.80047E-5
3-123166402-A-C p.Trp331Gly missense ADCY5 1 81656 1.22465E-5 40828 0 3.18857E-5
3-123166411-C-T p.Gly328Ser missense ADCY5 10 81562 1.22606E-4 40781 1 7.65228E-5
3-123166416-G-A p.Ser326Phe missense ADCY5 3 81494 3.68125E-5 40747 0 2.49433E-5
3-123166420-C-A p.Ala325Ser missense ADCY5 4 81380 4.91521E-5 40690 0 NA
3-123166424-G-A p.Arg323Arg synonymous ADCY5 3 81312 3.68949E-5 40656 0 NA
3-123166428-G-A p.Pro322Leu missense ADCY5 1 81256 1.23068E-5 40628 0 NA
3-123166430-C-T p.Gln321Gln synonymous ADCY5 71 81174 8.74664E-4 40587 0 0.009375
3-123166434-G-A p.Pro320Leu missense ADCY5 1 81100 1.23305E-5 40550 0 4.24834E-6
3-123166445-G-A p.Gly316Gly synonymous ADCY5 1 80880 1.2364E-5 40440 0 NA
3-123166460-G-A p.Ala311Ala synonymous ADCY5 2 80676 2.47905E-5 40338 0 4.26858E-6
3-123166468-C-T p.Val309Met missense ADCY5 1 80686 1.23937E-5 40343 0 4.12567E-5
3-123166471-C-G p.Val308Leu missense ADCY5 3 80646 3.71996E-5 40323 0 NA
3-123166472-G-A p.Ala307Ala synonymous ADCY5 1 80564 1.24125E-5 40282 0 1.71202E-5
3-123166478-G-A p.Leu305Leu synonymous ADCY5 1 80602 1.24066E-5 40301 0 3.09981E-5
3-123166482-G-A p.Ala304Val missense ADCY5 1 80542 1.24159E-5 40271 0 NA
3-123166483-C-T p.Ala304Thr missense ADCY5 4 80610 4.96216E-5 40305 0 3.82312E-4
3-123166483-C-A p.Ala304Ser missense ADCY5 2 80610 2.48108E-5 40305 0 1.27318E-5
3-123166485-T-G p.Tyr303Ser missense ADCY5 2 80648 2.47991E-5 40324 0 NA
3-123166487-G-A p.Cys302Cys synonymous ADCY5 3 80660 3.71932E-5 40330 0 1.03169E-5
3-123166490-G-A p.Ala301Ala synonymous ADCY5 1 80614 1.24048E-5 40307 0 NA
3-123166503-T-A p.His297Leu missense ADCY5 2 80446 2.48614E-5 40223 0 NA
3-123166515-A-T p.Phe293Tyr missense ADCY5 1 80370 1.24425E-5 40185 0 NA
3-123166535-C-A p.Val286Val synonymous ADCY5 4 80278 4.98269E-5 40139 0 1.26533E-5
3-123166537-C-G p.Val286Leu missense ADCY5 2 80252 2.49215E-5 40126 0 NA
3-123166542-A-G p.Met284Thr missense ADCY5 2 80190 2.49408E-5 40095 0 3.18796E-5
3-123166546-T-G p.Ile283Leu missense ADCY5 2 80154 2.4952E-5 40077 0 8.45923E-6
3-123166565-G-A p.Ala276Ala synonymous ADCY5 2 79596 2.51269E-5 39798 0 3.1904E-5
3-123166575-A-G p.Val273Ala missense ADCY5 65 80078 8.11709E-4 40039 1 0.0040404
3-123166576-C-T p.Val273Met missense ADCY5 1 80104 1.24838E-5 40052 0 6.25E-4
3-123166577-G-T p.Ala272Ala synonymous ADCY5 16 80118 1.99705E-4 40059 0 6.8045E-4
3-123166585-A-T p.Tyr270Asn missense ADCY5 2 80310 2.49035E-5 40155 0 1.25567E-5
3-123166598-C-G p.Pro265Pro synonymous ADCY5 1 80290 1.24549E-5 40145 0 NA
3-123166599-G-A p.Pro265Leu missense ADCY5 2 80362 2.48874E-5 40181 0 3.18857E-5
3-123166606-G-A p.Arg263Trp missense ADCY5 1 80274 1.24573E-5 40137 0 NA
3-123166607-C-G p.Ala262Ala synonymous ADCY5 1 80284 1.24558E-5 40142 0 NA
3-123166611-G-A p.Ala261Val missense ADCY5 1 80400 1.24378E-5 40200 0 NA
3-123166612-C-T p.Ala261Thr missense ADCY5 1 80442 1.24313E-5 40221 0 8.86855E-6
3-123166616-G-T p.Phe259Leu missense ADCY5 1 80578 1.24103E-5 40289 0 NA
3-123166624-A-G p.Leu257Leu synonymous ADCY5 1 80728 1.23873E-5 40364 0 4.0591E-6
3-123166628-G-A p.Val255Val synonymous ADCY5 8 80702 9.91301E-5 40351 0 1.27535E-4
3-123166629-A-T p.Val255Asp missense ADCY5 1 80686 1.23937E-5 40343 0 NA
3-123166631-C-G p.Leu254Leu synonymous ADCY5 13 80724 1.61043E-4 40362 0 3.82702E-4
3-123166639-C-G p.Val252Leu missense ADCY5 3 80616 3.72135E-5 40308 1 7.28468E-5
3-123166640-G-A p.Leu251Leu synonymous ADCY5 918 80588 0.0113913 40294 2 0.0156895
3-123166643-C-T p.Val250Val synonymous ADCY5 1 80564 1.24125E-5 40282 0 2.02156E-5
3-123166645-C-T p.Val250Met missense ADCY5 1 80580 1.241E-5 40290 0 4.04207E-6
3-123166652-G-A p.Ala247Ala synonymous ADCY5 2 80588 2.48176E-5 40294 0 8.59712E-5
3-123166669-G-A p.Leu242Phe missense ADCY5 1 80450 1.24301E-5 40225 0 4.04217E-6
3-123166691-G-A p.Phe234Phe synonymous ADCY5 1 79854 1.25229E-5 39927 0 4.05548E-6
3-123166694-G-A p.Tyr233Tyr synonymous ADCY5 3 79770 3.76081E-5 39885 0 4.05989E-6
3-123166710-C-T p.Arg228Gln missense ADCY5 1 79246 1.26189E-5 39623 0 3.19448E-5
3-123166727-C-T p.Pro222Pro synonymous ADCY5 1 78646 1.27152E-5 39323 0 5.04032E-4
3-123166737-T-C p.Lys219Arg missense ADCY5 2 78350 2.55265E-5 39175 0 NA
3-123166741-A-T p.Ser218Thr missense ADCY5 3 78124 3.84005E-5 39062 0 1.9384E-5
3-123166747-A-G p.Phe216Leu missense ADCY5 1 77914 1.28347E-5 38957 0 1.00428E-5
3-123166751-C-T p.Gln214Gln synonymous ADCY5 1 77754 1.28611E-5 38877 0 NA
3-123166756-G-C p.Leu213Val missense ADCY5 1 77462 1.29096E-5 38731 0 4.20918E-6
3-123166756-G-A p.Leu213Leu synonymous ADCY5 1 77462 1.29096E-5 38731 0 4.20918E-6
3-123166757-C-T p.Leu212Leu synonymous ADCY5 1 77416 1.29172E-5 38708 0 1.10793E-5
3-123166758-A-G p.Leu212Ser missense ADCY5 1 77360 1.29266E-5 38680 0 1.10727E-5
3-123166759-A-G p.Leu212Leu synonymous ADCY5 1 77270 1.29416E-5 38635 0 NA
3-123166772-G-A p.Ala207Ala synonymous ADCY5 2 76678 2.60831E-5 38339 0 1.28008E-4
3-123166781-G-A p.Ser204Ser synonymous ADCY5 1 76084 1.31434E-5 38042 0 NA
3-123166788-A-C p.Val202Gly missense ADCY5 2 75214 2.65908E-5 37607 0 0.0121827
3-123166788-A-ACCGCGCCGGGCC p.Gly198_Ala201dup conservative_inframe_insertion ADCY5 1 75214 1.32954E-5 37607 0 NA
3-123166791-G-A p.Ala201Val missense ADCY5 1 75006 1.33323E-5 37503 0 1.96125E-5
3-123166797-G-A p.Pro199Leu missense ADCY5 2 74338 2.69041E-5 37169 0 0.00250313
3-123166803-G-A p.Ala197Val missense ADCY5 1 73530 1.35999E-5 36765 0 3.29229E-5
3-123166809-G-A p.Ser195Leu missense ADCY5 4 72840 5.49149E-5 36420 0 4.50735E-5
3-123166813-C-T p.Gly194Ser missense ADCY5 1 72458 1.38011E-5 36229 0 NA
3-123166814-C-G p.Ser193Ser synonymous ADCY5 1 72134 1.38631E-5 36067 0 NA
3-123166837-C-G p.Asp186His missense ADCY5 1 67890 1.47297E-5 33945 0 NA
3-123166841-G-A p.Ser184Ser synonymous ADCY5 1 66484 1.50412E-5 33242 0 NA
3-123166841-G-C p.Ser184Ser synonymous ADCY5 4 66484 6.01649E-5 33242 0 0.00331126
3-123166842-G-T p.Ser184Tyr missense ADCY5 5 66296 7.54193E-5 33148 0 NA
3-123166857-T-C p.Glu179Gly missense ADCY5 1 58596 1.7066E-5 29298 0 NA
3-123166862-G-A p.Ala177Ala synonymous ADCY5 3 56040 5.35332E-5 28020 0 NA
3-123166865-G-A p.Gly176Gly synonymous ADCY5 4 53534 7.47189E-5 26767 0 1.18624E-4
3-123166867-C-G p.Gly176Arg missense ADCY5 10 53330 1.87512E-4 26665 0 1.17261E-4
3-123166868-G-A p.Ala175Ala synonymous ADCY5 1 53166 1.8809E-5 26583 0 NA
3-123166871-C-G p.Glu174Asp missense ADCY5 3 52396 5.72563E-5 26198 0 NA
3-123166876-G-A p.Leu173Leu synonymous ADCY5 7 48806 1.43425E-4 24403 0 6.53026E-4
3-123166877-C-G p.Glu172Asp missense ADCY5 1 49444 2.02249E-5 24722 0 NA
3-123166879-C-T p.Glu172Lys missense ADCY5 1 47424 2.10864E-5 23712 0 NA
3-123166882-C-A p.Asp171Tyr missense ADCY5 1 45686 2.18885E-5 22843 0 NA
3-123166886-C-T p.Ala169Ala synonymous ADCY5 1 43150 2.3175E-5 21575 0 NA
3-123166888-C-T p.Ala169Thr missense ADCY5 6 42066 1.42633E-4 21033 0 1.19503E-4
3-123166890-C-T p.Arg168His missense ADCY5 1 41610 2.40327E-5 20805 0 NA
3-123166894-C-T p.Gly167Arg missense ADCY5 1 42584 2.3483E-5 21292 0 5.10256E-5
3-123166895-C-G p.Lys166Asn missense ADCY5 2 42176 4.74203E-5 21088 0 7.44602E-5
3-123166922-C-T p.Glu157Glu synonymous ADCY5 68 37802 0.00179885 18901 1 0.00545909
3-123166922-C-A p.Glu157Asp missense ADCY5 4 37810 1.05792E-4 18905 0 0.00217077
3-123166930-A-C p.Ser155Ala missense ADCY5 2 35058 5.70483E-5 17529 0 NA
3-123166945-C-T p.Glu150Lys missense ADCY5 2 32056 6.23908E-5 16028 0 1.97941E-4
3-123166947-G-C p.Thr149Arg missense ADCY5 1 31392 3.18552E-5 15696 0 NA
3-123166964-A-AGCCGCC p.Ala142_Ala143dup disruptive_inframe_insertion ADCY5 1 28558 3.50165E-5 14279 0 NA
3-123166971-G-A p.Ala141Val missense ADCY5 2 26688 7.494E-5 13344 0 4.07631E-5
3-123166978-AGCC-A p.Gly138del conservative_inframe_deletion ADCY5 2 25038 7.98786E-5 12519 0 NA
3-123166978-AGCCGCCGCC-A p.Gly136_Gly138del conservative_inframe_deletion ADCY5 1 25060 3.99042E-5 12530 0 NA
3-123166978-A-AGCC p.Gly138dup conservative_inframe_insertion ADCY5 2 25060 7.98085E-5 12530 0 8.18867E-5
3-123166993-C-T p.Gly134Ser missense ADCY5 2 23118 8.65127E-5 11559 0 4.07332E-5
3-123167017-C-T p.Gly126Ser missense ADCY5 2 27452 7.28544E-5 13726 0 4.04531E-5
3-123167018-C-T p.Gly125Gly synonymous ADCY5 1 27664 3.61481E-5 13832 0 NA
3-123167020-C-T p.Gly125Arg missense ADCY5 1 27896 3.58474E-5 13948 0 NA
3-123167022-C-G p.Ser124Thr missense ADCY5 1 28126 3.55543E-5 14063 0 NA
3-123167029-C-T p.Ala122Thr missense ADCY5 1 29028 3.44495E-5 14514 0 NA
3-123167034-C-T p.Arg120Gln missense ADCY5 3 29960 1.00134E-4 14980 0 NA
3-123167042-C-T p.Arg117Arg synonymous ADCY5 604 30862 0.019571 15431 10 0.21978
3-123167044-G-T p.Arg117Arg synonymous ADCY5 1 31108 3.21461E-5 15554 0 NA
3-123167053-C-G p.Gly114Arg missense ADCY5 1 32726 3.05567E-5 16363 0 NA
3-123167054-G-A p.Arg113Arg synonymous ADCY5 1 32736 3.05474E-5 16368 0 3.72051E-5
3-123167063-G-A p.Asp110Asp synonymous ADCY5 1 34414 2.90579E-5 17207 0 3.59402E-5
3-123167064-T-C p.Asp110Gly missense ADCY5 1 34418 2.90546E-5 17209 0 NA
3-123167068-C-A p.Asp109Tyr missense ADCY5 3 35210 8.52031E-5 17605 0 1.77029E-4
3-123167068-C-T p.Asp109Asn missense ADCY5 1 35210 2.8401E-5 17605 0 2.2121E-5
3-123167081-C-T p.Gln104Gln synonymous ADCY5 1 37594 2.66E-5 18797 0 NA
3-123167089-C-T p.Ala102Thr missense ADCY5 19 38346 4.95488E-4 19173 0 0.0010395
3-123167118-C-T p.Gly92Asp missense ADCY5 2 40592 4.92708E-5 20296 0 3.25373E-5
3-123167134-C-A p.Asp87Tyr missense ADCY5 3 41258 7.27132E-5 20629 0 1.93711E-4
3-123167151-G-A p.Pro81Leu missense ADCY5 11 41776 2.63309E-4 20888 0 0.00117351
3-123167153-ATCG-A p.Asp80del disruptive_inframe_deletion ADCY5 4 41702 9.59187E-5 20851 0 8.76271E-4
3-123167153-A-ATCG p.Asp80dup disruptive_inframe_insertion ADCY5 1 41760 2.39464E-5 20880 0 NA
3-123167155-C-G p.Asp80His missense ADCY5 1 41750 2.39521E-5 20875 0 6.50694E-6
3-123167159-G-A p.Asp78Asp synonymous ADCY5 1 41808 2.39189E-5 20904 0 NA
3-123167167-C-G p.Asp76His missense ADCY5 4 41894 9.54791E-5 20947 0 3.72426E-5
3-123167178-C-A p.Arg72Leu missense ADCY5 2 41846 4.77943E-5 20923 0 2.06484E-5
3-123167178-C-T p.Arg72His missense ADCY5 1 41846 2.38971E-5 20923 0 5.17598E-4
3-123167185-C-G p.Ala70Pro missense ADCY5 2 41682 4.79823E-5 20841 0 0.00103842
3-123167190-CGCT-C p.Gln67del disruptive_inframe_deletion ADCY5 3 41550 7.22022E-5 20775 0 1.75024E-4
3-123167190-C-G p.Arg68Pro missense ADCY5 2 41552 4.81325E-5 20776 0 6.46663E-5
3-123167243-G-C p.Ala50Ala synonymous ADCY5 1 41124 2.43167E-5 20562 0 1.63875E-5
3-123167247-G-A p.Ser49Phe missense ADCY5 5 41022 1.21886E-4 20511 0 0.00158061
3-123167248-A-C p.Ser49Ala missense ADCY5 6 40972 1.46441E-4 20486 0 1.60803E-4
3-123167249-G-A p.Gly48Gly synonymous ADCY5 39817 40004 0.995325 20002 19821 0.99897
3-123167253-C-T p.Gly47Glu missense ADCY5 1 41018 2.43795E-5 20509 0 NA
3-123167256-G-A p.Pro46Leu missense ADCY5 2 40982 4.88019E-5 20491 0 NA
3-123167258-G-A p.Ala45Ala synonymous ADCY5 1 40946 2.44224E-5 20473 0 2.4185E-5
3-123167262-TG-T p.His44fs frameshift ADCY5 1 40882 2.44606E-5 20441 0 NA
3-123167263-G-T p.His44Asn missense ADCY5 1 40928 2.44332E-5 20464 0 3.07333E-5
3-123167263-G-A p.His44Tyr missense ADCY5 21 40928 5.13096E-4 20464 0 0.00194049
3-123167269-A-T p.Tyr42Asn missense ADCY5 1 40564 2.46524E-5 20282 0 NA
3-123167284-A-C p.Ser37Ala missense ADCY5 1 40110 2.49314E-5 20055 0 3.20492E-5
3-123167287-C-G p.Asp36His missense ADCY5 2 40040 4.995E-5 20020 0 NA
3-123167293-C-G p.Glu34Gln missense ADCY5 1 39426 2.5364E-5 19713 0 NA
3-123167316-G-A p.Pro26Leu missense ADCY5 7 39188 1.78626E-4 19594 0 6.39672E-5
3-123167338-C-T p.Ala19Thr missense ADCY5 31 40276 7.69689E-4 20138 0 0.001152
3-123167340-GC-TT p.Ala18Lys missense ADCY5 1 40582 2.46415E-5 20291 0 NA
3-123167345-C-T p.Lys16Lys synonymous ADCY5 4 41980 9.52835E-5 20990 0 6.39264E-5
3-123167349-T-C p.Gln15Arg missense ADCY5 2 42130 4.74721E-5 21065 0 3.20184E-5
3-123167357-G-A p.Tyr12Tyr synonymous ADCY5 1 42280 2.36518E-5 21140 0 3.19877E-5
3-123167359-A-G p.Tyr12His missense ADCY5 7 42502 1.64698E-4 21251 0 5.95238E-4
3-123167363-C-T p.Pro10Pro synonymous ADCY5 2 42702 4.68362E-5 21351 0 NA
3-123167364-G-A p.Pro10Leu missense ADCY5 59 42860 0.00137657 21430 1 0.0294118
3-123167365-G-A p.Pro10Ser missense ADCY5 1 42994 2.32591E-5 21497 0 NA
3-123167370-C-A p.Ser8Ile missense ADCY5 3 43546 6.88927E-5 21773 0 NA
3-123167376-C-T p.Ser6Asn missense ADCY5 5 44528 1.12289E-4 22264 0 NA
3-123167377-T-C p.Ser6Gly missense ADCY5 2 44554 4.48893E-5 22277 0 NA
3-123167385-C-G p.Gly3Ala missense ADCY5 5 44994 1.11126E-4 22497 0 NA
3-123167471-G-A c.-79C>T 5_prime_UTR_premature_start_codon_gain ADCY5 1 36580 2.73373E-5 18290 0 NA
3-123167641-G-A c.-249C>T 5_prime_UTR_premature_start_codon_gain ADCY5 1 10420 9.59693E-5 5210 0 NA