Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-50300428-C-T c.-339C>T 5_prime_UTR_premature_start_codon_gain ADCY7 2 1702 0.00117509 851 0 6.38651E-5
16-50300591-G-GCTGCTGGCCAACGCAGTCATCTTCCT n.140_140+1insCTGCTGGCCAACGCAGTCATCTTCCT splice_donor ADCY7 1 180 0.00555556 90 0 NA
16-50300593-T-TC n.140+2_140+3insC splice_region ADCY7 1 182 0.00549451 91 0 NA
16-50321812-C-T c.-279C>T 5_prime_UTR_premature_start_codon_gain ADCY7 17 23530 7.22482E-4 11765 0 4.45775E-4
16-50321818-C-T c.-273C>T 5_prime_UTR_premature_start_codon_gain ADCY7 1 26494 3.77444E-5 13247 0 3.18451E-5
16-50321819-G-A c.-268-4G>A splice_region ADCY7 15 26400 5.68182E-4 13200 0 0.00143312
16-50321837-G-A c.-254G>A 5_prime_UTR_premature_start_codon_gain ADCY7 1 33794 2.95911E-5 16897 0 NA
16-50321979-C-T c.-112C>T 5_prime_UTR_premature_start_codon_gain ADCY7 1 77054 1.29779E-5 38527 0 NA
16-50321980-G-T c.-111G>T 5_prime_UTR_premature_start_codon_gain ADCY7 1 77162 1.29597E-5 38581 0 NA
16-50321999-G-A c.-54+1G>A splice_donor ADCY7 2 78098 2.56088E-5 39049 0 6.25782E-4
16-50322002-C-T c.-54+4C>T splice_region ADCY7 2 78172 2.55846E-5 39086 0 NA
16-50322004-C-T c.-87C>T 5_prime_UTR_premature_start_codon_gain ADCY7 8 78200 1.02302E-4 39100 0 2.54826E-4
16-50322005-G-A c.-54+7G>A splice_region ADCY7 4 78250 5.11182E-5 39125 0 NA
16-50322006-G-C c.-54+8G>C splice_region ADCY7 2 78284 2.5548E-5 39142 0 NA
16-50322025-A-T c.-66A>T 5_prime_UTR_premature_start_codon_gain ADCY7 9 78736 1.14306E-4 39368 0 3.50363E-4
16-50322038-G-A c.-53G>A splice_region ADCY7 1 79092 1.26435E-5 39546 0 NA
16-50322041-C-T c.-50C>T 5_prime_UTR_premature_start_codon_gain ADCY7 1 79206 1.26253E-5 39603 0 1.59266E-4
16-50322056-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain ADCY7 1 79764 1.2537E-5 39882 0 1.17096E-4
16-50322067-C-T c.-24C>T 5_prime_UTR_premature_start_codon_gain ADCY7 4 80190 4.98815E-5 40095 0 2.1004E-4
16-50322072-C-T c.-19C>T 5_prime_UTR_premature_start_codon_gain ADCY7 4 80286 4.98219E-5 40143 0 1.91168E-4
16-50322104-G-A p.Gly5Glu missense ADCY7 2 80736 2.47721E-5 40368 0 6.01685E-5
16-50322106-C-T p.Arg6Cys missense ADCY7 2 80686 2.47874E-5 40343 0 1.3013E-4
16-50322107-G-A p.Arg6His missense ADCY7 1 80690 1.23931E-5 40345 0 6.49443E-6
16-50322120-C-T p.Asn10Asn synonymous ADCY7 3 80794 3.71315E-5 40397 0 3.18552E-5
16-50322120-C-A p.Asn10Lys missense ADCY7 1 80794 1.23772E-5 40397 0 NA
16-50322121-G-A p.Glu11Lys missense ADCY7 2 80822 2.47457E-5 40411 0 NA
16-50322127-G-A p.Glu13Lys missense ADCY7 1 80820 1.23732E-5 40410 0 5.3516E-5
16-50322129-G-A p.Glu13Glu synonymous ADCY7 2 80868 2.47317E-5 40434 0 6.40853E-6
16-50322135-C-A p.Gly15Gly synonymous ADCY7 1 80816 1.23738E-5 40408 0 NA
16-50322135-C-T p.Gly15Gly synonymous ADCY7 2 80816 2.47476E-5 40408 0 5.2843E-5
16-50322137-C-T p.Pro16Leu missense ADCY7 1 80822 1.23729E-5 40411 0 NA
16-50322149-C-T p.Ala20Val missense ADCY7 1 80740 1.23854E-5 40370 0 0.00345224
16-50322150-G-A p.Ala20Ala synonymous ADCY7 1 80704 1.2391E-5 40352 0 1.28294E-5
16-50322155-A-T p.Tyr22Phe missense ADCY7 2 80668 2.4793E-5 40334 0 6.4119E-6
16-50322156-C-T p.Tyr22Tyr synonymous ADCY7 4 80644 4.96007E-5 40322 0 1.59236E-4
16-50322157-G-A p.Glu23Lys missense ADCY7 2 80646 2.47997E-5 40323 0 1.59297E-4
16-50322169-C-T p.Leu27Phe missense ADCY7 13 80484 1.61523E-4 40242 0 6.42599E-5
16-50322185-G-A p.Gly32Glu missense ADCY7 14 80392 1.74147E-4 40196 0 1.28909E-4
16-50322189-G-A p.Pro33Pro synonymous ADCY7 1 80250 1.24611E-5 40125 0 3.18552E-5
16-50322200-C-T p.Thr37Met missense ADCY7 45 80160 5.61377E-4 40080 1 0.00103871
16-50322216-C-T p.Ala42Ala synonymous ADCY7 5 80010 6.24922E-5 40005 0 5.48246E-5
16-50322217-G-T p.Ala43Ser missense ADCY7 1 79972 1.25044E-5 39986 0 NA
16-50322228-C-T p.Cys46Cys synonymous ADCY7 2 79888 2.5035E-5 39944 0 6.36902E-5
16-50322229-G-A p.Val47Met missense ADCY7 5 79864 6.26064E-5 39932 0 0.00202977
16-50322247-G-A p.Ala53Thr missense ADCY7 4 79628 5.02336E-5 39814 0 6.51924E-6
16-50322249-C-T p.Ala53Ala synonymous ADCY7 2 79654 2.51086E-5 39827 0 1.91034E-4
16-50322260-G-T p.Gly57Val missense+splice_region ADCY7 1 79402 1.25941E-5 39701 0 6.62497E-6
16-50323144-G-T p.Ala62Ser missense ADCY7 1 7888 1.26775E-4 3944 0 3.19714E-5
16-50323159-C-T p.Leu67Leu synonymous ADCY7 2 8192 2.44141E-4 4096 0 3.18674E-5
16-50323183-G-A p.Val75Ile missense ADCY7 3 8690 3.45224E-4 4345 0 0.00110011
16-50323193-T-C p.Leu78Pro missense ADCY7 1 8856 1.12918E-4 4428 0 3.18837E-5
16-50323203-T-C p.Pro81Pro synonymous ADCY7 1 8938 1.11882E-4 4469 0 5.4185E-4
16-50323211-T-C p.Val84Ala missense ADCY7 2025 8682 0.233241 4341 233 0.2325
16-50324369-A-G p.Asp58Gly missense+splice_region ADCY7 2 81176 2.46378E-5 40588 0 3.18959E-5
16-50324374-T-C p.Ser60Pro missense ADCY7 4 81346 4.91727E-5 40673 0 3.31956E-5
16-50324402-C-T p.Ala69Val missense ADCY7 3 81836 3.66587E-5 40918 0 4.809E-5
16-50324410-G-A p.Val72Met missense ADCY7 1 82036 1.21898E-5 41018 0 3.18532E-5
16-50324417-C-T p.Ala74Val missense ADCY7 4 82114 4.87128E-5 41057 0 0.00100705
16-50324418-G-A p.Ala74Ala synonymous ADCY7 2 82170 2.43398E-5 41085 0 NA
16-50324426-C-T p.Ala77Val missense ADCY7 16 82268 1.94486E-4 41134 0 1.59256E-4
16-50324448-C-T p.Tyr84Tyr synonymous ADCY7 2 82722 2.41774E-5 41361 0 3.99167E-6
16-50324449-G-A p.Val85Ile missense ADCY7 9 82768 1.08738E-4 41384 0 6.36902E-5
16-50324451-C-T p.Val85Val synonymous ADCY7 1 82776 1.20808E-5 41388 0 6.60917E-5
16-50324452-G-A p.Glu86Lys missense ADCY7 5 82800 6.03865E-5 41400 0 3.18431E-5
16-50324452-G-T p.Glu86* stop_gained ADCY7 1 82800 1.20773E-5 41400 0 NA
16-50324455-T-G p.Cys87Gly missense ADCY7 2 82816 2.41499E-5 41408 0 NA
16-50324458-C-T p.Leu88Phe missense ADCY7 1 82846 1.20706E-5 41423 0 NA
16-50324464-C-T p.Arg90Trp missense ADCY7 2 82858 2.41377E-5 41429 0 6.36943E-5
16-50324465-G-A p.Arg90Gln missense ADCY7 6 82842 7.2427E-5 41421 0 4.13134E-5
16-50324467-C-T p.Arg91Cys missense ADCY7 1 82824 1.20738E-5 41412 0 3.1837E-5
16-50324468-G-A p.Arg91His missense ADCY7 15 82828 1.81098E-4 41414 0 6.25E-4
16-50324470-T-G p.Trp92Gly missense ADCY7 1 82844 1.20709E-5 41422 0 NA
16-50324473-C-T p.Leu93Phe missense ADCY7 2 82840 2.41429E-5 41420 0 4.95942E-5
16-50324478-G-T p.Arg94Ser missense ADCY7 1 82800 1.20773E-5 41400 0 3.99345E-6
16-50324479-G-T p.Ala95Ser missense ADCY7 2 82804 2.41534E-5 41402 0 7.44134E-5
16-50324486-C-T p.Ala97Val missense ADCY7 4 82746 4.83407E-5 41373 0 5.03525E-4
16-50324498-G-A p.Trp101* stop_gained ADCY7 1 82766 1.20823E-5 41383 0 NA
16-50324502-C-G p.Ala102Ala synonymous ADCY7 1 82752 1.20843E-5 41376 0 NA
16-50324504-G-A p.Cys103Tyr missense ADCY7 7 82684 8.46597E-5 41342 0 6.25E-4
16-50324510-T-C p.Val105Ala missense ADCY7 13 82654 1.57282E-4 41327 0 6.05404E-4
16-50324523-T-C p.Tyr109Tyr synonymous ADCY7 2 82494 2.42442E-5 41247 0 3.18593E-5
16-50324526-G-A p.Val110Val synonymous ADCY7 5 82478 6.06222E-5 41239 0 9.21467E-5
16-50324529-G-A p.Leu111Leu synonymous ADCY7 2 82402 2.42713E-5 41201 0 8.27869E-6
16-50324535-C-T p.Phe113Phe synonymous ADCY7 22 82174 2.67725E-4 41087 0 1.76566E-4
16-50324538-C-T p.Asp114Asp synonymous ADCY7 3 82056 3.65604E-5 41028 0 5.03525E-4
16-50324541-A-G p.Ala115Ala synonymous ADCY7 1 81980 1.21981E-5 40990 0 8.29174E-6
16-50324551-G-A p.Ala119Thr missense ADCY7 1 81546 1.2263E-5 40773 0 1.66492E-5
16-50324553-G-A p.Ala119Ala synonymous ADCY7 3 81410 3.68505E-5 40705 0 6.36983E-5
16-50324554-G-A p.Ala120Thr missense ADCY7 1 81368 1.22898E-5 40684 0 3.18431E-5
16-50324561-C-T p.Ala122Val missense ADCY7 47 81164 5.79074E-4 40582 0 0.00203757
16-50324562-G-A p.Ala122Ala synonymous ADCY7 23 81166 2.8337E-4 40583 0 0.00875
16-50324578-G-C c.375+7G>C splice_region ADCY7 1 80764 1.23818E-5 40382 0 8.55081E-6
16-50325649-G-T p.Val126Val splice_region+synonymous ADCY7 1 82316 1.21483E-5 41158 0 6.37633E-5
16-50325653-T-A p.Phe128Ile missense ADCY7 29 82428 3.51822E-4 41214 0 5.03525E-4
16-50325656-T-C p.Phe129Leu missense ADCY7 2 82486 2.42465E-5 41243 0 3.18796E-5
16-50325674-G-A p.Val135Met missense ADCY7 7 82702 8.46412E-5 41351 0 5.57471E-5
16-50325685-A-G p.Thr138Thr synonymous ADCY7 2 82722 2.41774E-5 41361 0 3.19061E-5
16-50325694-C-T p.Pro141Pro synonymous ADCY7 1 82772 1.20814E-5 41386 0 8.30234E-6
16-50325695-T-G p.Phe142Val missense ADCY7 10 82776 1.20808E-4 41388 0 6.25E-4
16-50325704-C-T p.Arg145Trp missense ADCY7 3 82714 3.62696E-5 41357 0 3.32116E-5
16-50325705-G-A p.Arg145Gln missense ADCY7 7 82708 8.46351E-5 41354 0 1.35465E-4
16-50325709-C-T p.Gly146Gly synonymous ADCY7 1 82660 1.20978E-5 41330 0 3.18695E-5
16-50325710-G-A p.Ala147Thr missense ADCY7 7 82668 8.46761E-5 41334 0 2.49198E-4
16-50325715-C-T p.Val148Val synonymous ADCY7 5 82686 6.04697E-5 41343 0 6.3743E-5
16-50325718-C-T p.Ala149Ala synonymous ADCY7 2 82684 2.41885E-5 41342 0 4.78335E-5
16-50325719-G-A p.Val150Ile missense ADCY7 2 82698 2.41844E-5 41349 0 3.18552E-5
16-50325727-C-T p.Ala152Ala synonymous ADCY7 2 82664 2.41943E-5 41332 0 1.23611E-4
16-50325733-C-T p.Ser154Ser synonymous ADCY7 9 82676 1.08859E-4 41338 0 NA
16-50325755-C-T p.Leu162Phe missense ADCY7 5 82584 6.05444E-5 41292 0 6.37105E-5
16-50325757-C-T p.Leu162Leu synonymous ADCY7 37 82552 4.48202E-4 41276 1 1.59327E-4
16-50325758-G-A p.Gly163Ser missense ADCY7 13 82540 1.57499E-4 41270 0 1.67146E-5
16-50325767-A-G p.Met166Val missense ADCY7 1 82506 1.21203E-5 41253 0 3.19305E-5
16-50325776-T-C p.Phe169Leu missense ADCY7 1 82416 1.21336E-5 41208 0 8.44181E-6
16-50325780-C-T p.Thr170Met missense ADCY7 5 82278 6.07696E-5 41139 0 4.81043E-5
16-50325781-G-A p.Thr170Thr synonymous ADCY7 2 82278 2.43078E-5 41139 0 1.20224E-5
16-50325788-A-T p.Ser173Cys missense ADCY7 1 82190 1.21669E-5 41095 0 NA
16-50325789-G-T p.Ser173Ile missense ADCY7 1 82212 1.21637E-5 41106 0 NA
16-50325790-T-C p.Ser173Ser synonymous ADCY7 1 82160 1.21714E-5 41080 0 8.56179E-6
16-50325792-TC-AT p.Val174Asp missense ADCY7 1 82106 1.21794E-5 41053 0 NA
16-50325794-C-T p.Arg175Trp missense ADCY7 2 81968 2.43998E-5 40984 0 1.59337E-4
16-50325795-G-A p.Arg175Gln missense ADCY7 4 81994 4.87841E-5 40997 0 4.04544E-6
16-50325813-G-T c.537+5G>T splice_region ADCY7 1 81456 1.22766E-5 40728 0 NA
16-50326582-C-T c.538-5C>T splice_region ADCY7 2 82738 2.41727E-5 41369 0 3.18715E-5
16-50326583-G-A c.538-4G>A splice_region ADCY7 1 82760 1.20831E-5 41380 0 3.18674E-5
16-50326589-G-A p.Leu180Leu splice_region+synonymous ADCY7 5 82788 6.03952E-5 41394 0 8.31186E-6
16-50326598-C-T p.Asn183Asn synonymous ADCY7 1 82864 1.2068E-5 41432 0 1.65645E-5
16-50326615-G-A p.Cys189Tyr missense ADCY7 2 82990 2.40993E-5 41495 0 3.18552E-5
16-50326616-T-C p.Cys189Cys synonymous ADCY7 1 83000 1.20482E-5 41500 0 NA
16-50326622-C-T p.Asn191Asn synonymous ADCY7 1 83012 1.20465E-5 41506 0 NA
16-50326631-C-T p.Gly194Gly synonymous ADCY7 11 83014 1.32508E-4 41507 0 3.3012E-5
16-50326631-C-G p.Gly194Gly synonymous ADCY7 3 83014 3.61385E-5 41507 0 3.18756E-5
16-50326632-G-A p.Ala195Thr missense ADCY7 1 83008 1.2047E-5 41504 0 6.25E-4
16-50326633-C-T p.Ala195Val missense ADCY7 3 83016 3.61376E-5 41508 0 6.37592E-5
16-50326643-G-C p.Lys198Asn missense ADCY7 1 83050 1.20409E-5 41525 0 3.18878E-5
16-50326646-C-T p.His199His synonymous ADCY7 5 83048 6.02061E-5 41524 0 3.18735E-5
16-50326654-A-G p.Gln202Arg missense ADCY7 2 83038 2.40854E-5 41519 0 3.18918E-5
16-50326661-A-G p.Ala204Ala synonymous ADCY7 82602 82814 0.99744 41407 41199 1.0
16-50326665-C-T p.Arg206Trp missense ADCY7 2 82962 2.41074E-5 41481 0 3.18837E-5
16-50326666-G-A p.Arg206Gln missense ADCY7 39 82964 4.70083E-4 41482 0 0.00125
16-50326670-C-A p.Asp207Glu missense ADCY7 3 82946 3.61681E-5 41473 0 3.18776E-5
16-50326673-C-A p.Leu208Leu synonymous ADCY7 1 82946 1.2056E-5 41473 0 NA
16-50326676-C-T p.Phe209Phe synonymous ADCY7 1 82932 1.20581E-5 41466 0 8.24946E-6
16-50326676-C-A p.Phe209Leu missense ADCY7 1 82932 1.20581E-5 41466 0 NA
16-50326681-A-G p.Tyr211Cys missense ADCY7 1 82876 1.20662E-5 41438 0 NA
16-50326695-A-G p.Ile216Val missense ADCY7 1 82812 1.20755E-5 41406 0 8.25464E-6
16-50326705-G-A p.Arg219His missense ADCY7 9 82680 1.08853E-4 41340 0 3.19E-5
16-50326707-C-T p.Arg220Trp missense ADCY7 2 82652 2.41978E-5 41326 0 1.59418E-4
16-50326709-G-A p.Arg220Arg synonymous ADCY7 1 82628 1.21024E-5 41314 0 3.98356E-6
16-50326711-A-G p.Lys221Arg missense ADCY7 2 82648 2.4199E-5 41324 0 NA
16-50326716-C-T p.Arg223Cys missense ADCY7 1 82600 1.21065E-5 41300 0 9.56206E-5
16-50326716-C-G p.Arg223Gly missense ADCY7 2 82600 2.42131E-5 41300 0 3.18735E-5
16-50326717-G-T p.Arg223Leu missense ADCY7 1 82598 1.21068E-5 41299 0 1.99325E-5
16-50326721-C-T p.Ile224Ile synonymous ADCY7 5 82548 6.05708E-5 41274 0 2.23477E-4
16-50326729-G-A p.Arg227His missense ADCY7 1 82360 1.21418E-5 41180 0 NA
16-50326735-A-G p.Gln229Arg missense+splice_region ADCY7 1 82268 1.21554E-5 41134 0 NA
16-50326743-C-T c.687+7C>T splice_region ADCY7 1 82040 1.21892E-5 41020 0 1.41438E-4
16-50327269-A-C p.Asn231Thr missense ADCY7 1 81206 1.23144E-5 40603 0 3.18735E-5
16-50327271-C-T p.Leu232Leu synonymous ADCY7 48 81300 5.90406E-4 40650 0 3.23106E-4
16-50327291-G-A p.Pro238Pro synonymous ADCY7 2 81802 2.44493E-5 40901 0 3.18674E-5
16-50327330-A-G p.Glu251Glu synonymous ADCY7 3 82556 3.6339E-5 41278 0 1.64976E-5
16-50327338-A-G p.Lys254Arg missense ADCY7 1 82658 1.2098E-5 41329 0 8.24851E-6
16-50327352-C-T p.Arg259Cys missense ADCY7 3 82698 3.62766E-5 41349 0 6.25E-4
16-50327353-G-A p.Arg259His missense ADCY7 2 82682 2.41891E-5 41341 0 6.25E-4
16-50327355-C-T p.Arg260Cys missense ADCY7 2 82674 2.41914E-5 41337 0 1.27389E-4
16-50327355-C-A p.Arg260Ser missense ADCY7 1 82674 1.20957E-5 41337 0 3.98016E-6
16-50327356-G-C p.Arg260Pro missense ADCY7 2 82660 2.41955E-5 41330 0 3.18552E-5
16-50327356-G-A p.Arg260His missense ADCY7 2 82660 2.41955E-5 41330 0 0.00251762
16-50327375-C-T p.Asn266Asn synonymous ADCY7 1 82600 1.21065E-5 41300 0 NA
16-50327388-T-C p.Tyr271His missense ADCY7 1 82508 1.212E-5 41254 0 NA
16-50327389-A-G p.Tyr271Cys missense ADCY7 1 82514 1.21192E-5 41257 0 3.18552E-5
16-50327390-C-T p.Tyr271Tyr synonymous ADCY7 13 82488 1.57599E-4 41244 2 0.00125
16-50327391-G-A p.Val272Ile missense ADCY7 7 82454 8.48958E-5 41227 0 5.03525E-4
16-50327404-A-G p.Gln276Arg missense ADCY7 7 82120 8.52411E-5 41060 0 0.00100705
16-50327419-C-T c.836+6C>T splice_region ADCY7 7 81484 8.59064E-5 40742 0 5.03922E-5
16-50327420-G-A c.836+7G>A splice_region ADCY7 15 81452 1.84158E-4 40726 0 0.001875
16-50327420-G-T c.836+7G>T splice_region ADCY7 3 81454 3.68306E-5 40727 0 1.68197E-5
16-50328546-C-T c.837-5C>T splice_region ADCY7 1 79662 1.2553E-5 39831 0 NA
16-50328549-A-T c.837-2A>T splice_acceptor ADCY7 1 79736 1.25414E-5 39868 0 NA
16-50328569-C-T p.Ile285Ile synonymous ADCY7 1 81728 1.22357E-5 40864 0 3.18613E-5
16-50328572-G-A p.Val286Val synonymous ADCY7 1 81950 1.22026E-5 40975 0 NA
16-50328581-G-A p.Thr289Thr synonymous ADCY7 10 82146 1.21734E-4 41073 1 5.03525E-4
16-50328590-C-G p.Ala292Ala synonymous ADCY7 5 82354 6.07135E-5 41177 0 6.25E-4
16-50328593-C-T p.Ser293Ser synonymous ADCY7 1 82366 1.21409E-5 41183 0 4.55058E-5
16-50328608-G-A p.Lys298Lys synonymous ADCY7 1 82562 1.21121E-5 41281 0 7.98263E-6
16-50328647-C-T p.Phe311Phe synonymous ADCY7 3 82442 3.63892E-5 41221 0 2.00507E-5
16-50328648-G-A p.Asp312Asn missense ADCY7 2 82432 2.42624E-5 41216 0 9.33027E-6
16-50328657-G-A p.Ala315Thr missense ADCY7 1 82268 1.21554E-5 41134 0 3.18756E-5
16-50328665-G-A c.948+3G>A splice_region ADCY7 5 82128 6.08806E-5 41064 0 1.70665E-4
16-50328667-G-A c.948+5G>A splice_region ADCY7 22 82054 2.68116E-4 41027 0 2.23086E-4
16-50328670-C-T c.948+8C>T splice_region ADCY7 1 81988 1.21969E-5 40994 0 6.25E-4
16-50332814-G-A c.949-1G>A splice_acceptor ADCY7 1 82880 1.20656E-5 41440 0 NA
16-50332830-C-T p.Arg322* stop_gained ADCY7 1 82998 1.20485E-5 41499 0 8.27856E-6
16-50332844-C-T p.Leu326Leu synonymous ADCY7 3 83040 3.61272E-5 41520 0 3.18613E-5
16-50332847-C-T p.Gly327Gly synonymous ADCY7 24 83018 2.89094E-4 41509 0 1.43379E-4
16-50332852-G-A p.Cys329Tyr missense ADCY7 3 83072 3.61133E-5 41536 0 NA
16-50332871-C-T p.Gly335Gly synonymous ADCY7 4 82940 4.82276E-5 41470 0 1.90164E-4
16-50332871-C-A p.Gly335Gly synonymous ADCY7 1 82940 1.20569E-5 41470 0 7.96832E-6
16-50332877-C-T p.Pro337Pro synonymous ADCY7 2 82894 2.41272E-5 41447 0 6.37146E-5
16-50332883-G-A p.Ser339Ser synonymous ADCY7 18 82828 2.17318E-4 41414 0 2.86752E-4
16-50332895-C-T p.His343His synonymous ADCY7 131 82760 0.00158289 41380 4 0.00264975
16-50332899-C-G p.Arg345Gly missense ADCY7 1 82734 1.20869E-5 41367 0 3.99275E-6
16-50332900-G-A p.Arg345Gln missense ADCY7 8 82714 9.67188E-5 41357 0 5.80894E-5
16-50332904-C-T p.Asn346Asn synonymous ADCY7 1 82704 1.20913E-5 41352 0 3.99463E-6
16-50332907-C-T p.Cys347Cys synonymous ADCY7 2 82638 2.42019E-5 41319 0 2.07831E-4
16-50332912-A-T p.Lys349Met missense ADCY7 38 82646 4.59792E-4 41323 0 1.59337E-4
16-50334620-C-T c.1077-6C>T splice_region ADCY7 3 79506 3.7733E-5 39753 0 9.68148E-5
16-50334623-C-T c.1077-3C>T splice_region ADCY7 1 79734 1.25417E-5 39867 0 4.82952E-5
16-50334631-T-C p.Val361Ala missense ADCY7 1 80024 1.24963E-5 40012 0 NA
16-50334632-G-A p.Val361Val synonymous ADCY7 4 80064 4.996E-5 40032 0 9.60154E-5
16-50334633-C-T p.Arg362Trp missense ADCY7 3 80078 3.74635E-5 40039 0 0.0034965
16-50334634-G-C p.Arg362Pro missense ADCY7 2 80218 2.49321E-5 40109 0 4.798E-5
16-50334634-G-A p.Arg362Gln missense ADCY7 1 80218 1.2466E-5 40109 0 6.39713E-6
16-50334644-G-A p.Thr365Thr synonymous ADCY7 1 80630 1.24023E-5 40315 0 3.18654E-5
16-50334647-C-T p.Gly366Gly synonymous ADCY7 18 80774 2.22844E-4 40387 0 0.00445931
16-50334659-C-T p.Asn370Asn synonymous ADCY7 2 81118 2.46554E-5 40559 0 6.35389E-6
16-50334664-G-A p.Arg372His missense ADCY7 11 81162 1.35531E-4 40581 0 3.18512E-5
16-50334679-C-T p.Ser377Leu missense ADCY7 2 81328 2.45918E-5 40664 0 NA
16-50334685-A-G p.Asn379Ser missense ADCY7 5 81374 6.14447E-5 40687 0 6.25E-4
16-50334697-G-A p.Gly383Glu missense ADCY7 1 81412 1.22832E-5 40706 0 NA
16-50334698-G-A p.Gly383Gly synonymous ADCY7 1 81412 1.22832E-5 40706 0 6.22154E-6
16-50334701-C-T p.Val384Val synonymous ADCY7 1 81420 1.2282E-5 40710 0 NA
16-50334704-C-A p.Ile385Ile synonymous ADCY7 1 81448 1.22778E-5 40724 0 1.23828E-5
16-50334709-T-A p.Leu387Gln missense ADCY7 1 81492 1.22711E-5 40746 0 6.14999E-6
16-50334715-A-G p.Lys389Arg missense ADCY7 1 81524 1.22663E-5 40762 0 4.59728E-5
16-50334721-A-G p.Gln391Arg missense ADCY7 1 81522 1.22666E-5 40761 0 NA
16-50334728-C-T p.Asp393Asp synonymous ADCY7 4 81514 4.90713E-5 40757 0 6.25E-4
16-50334737-C-T p.Ser396Ser synonymous ADCY7 1 81510 1.22684E-5 40755 0 NA
16-50334740-C-T p.His397His synonymous ADCY7 20 81500 2.45399E-4 40750 0 4.52284E-4
16-50334741-G-A p.Asp398Asn missense ADCY7 2 81510 2.45369E-5 40755 0 NA
16-50334743-C-T p.Asp398Asp synonymous ADCY7 1 81516 1.22675E-5 40758 0 6.01967E-6
16-50334750-C-T p.Leu401Leu synonymous ADCY7 1 81498 1.22702E-5 40749 0 NA
16-50334758-C-T p.Asn403Asn synonymous ADCY7 7 81500 8.58896E-5 40750 0 6.3743E-5
16-50334759-C-T p.Arg404Trp missense ADCY7 1 81456 1.22766E-5 40728 0 1.81526E-5
16-50334760-G-A p.Arg404Gln missense ADCY7 1 81470 1.22745E-5 40735 0 0.00153689
16-50334764-G-A p.Met405Ile missense ADCY7 1 81472 1.22742E-5 40736 0 NA
16-50334773-C-T p.Ala408Ala synonymous ADCY7 2 81380 2.45761E-5 40690 0 6.37755E-5
16-50334777-G-A p.Val410Ile missense ADCY7 1 81336 1.22947E-5 40668 0 NA
16-50334782-C-T p.Pro411Pro splice_region+synonymous ADCY7 1 81286 1.23022E-5 40643 0 1.24156E-5
16-50334787-G-A c.1235+3G>A splice_region ADCY7 2 81264 2.46111E-5 40632 0 NA
16-50334988-C-T c.1236-5C>T splice_region ADCY7 6 82122 7.3062E-5 41061 0 1.69552E-4
16-50334989-G-A c.1236-4G>A splice_region ADCY7 4 82138 4.86985E-5 41069 0 3.22409E-5
16-50335005-C-A p.Ile416Ile synonymous ADCY7 1 82386 1.2138E-5 41193 0 1.604E-5
16-50335007-C-T p.Thr417Met missense ADCY7 1 82384 1.21383E-5 41192 0 8.01892E-6
16-50335008-G-C p.Thr417Thr synonymous ADCY7 61 82388 7.40399E-4 41194 0 5.55633E-4
16-50335008-G-A p.Thr417Thr synonymous ADCY7 3 82392 3.64113E-5 41196 0 8.68176E-6
16-50335017-G-A p.Thr420Thr synonymous ADCY7 2 82464 2.4253E-5 41232 0 3.46254E-5
16-50335029-G-A p.Leu424Leu synonymous ADCY7 1 82496 1.21218E-5 41248 0 8.67318E-6
16-50335035-G-A p.Lys426Lys splice_region+synonymous ADCY7 2 82514 2.42383E-5 41257 0 NA
16-50335044-G-A p.Glu429Glu synonymous ADCY7 1 82504 1.21206E-5 41252 0 NA
16-50335046-T-C p.Val430Ala missense ADCY7 5 82454 6.06399E-5 41227 0 0.00375
16-50335057-C-T p.His434Tyr missense ADCY7 1 82450 1.21286E-5 41225 0 4.01126E-6
16-50335058-A-T p.His434Leu missense ADCY7 1 82434 1.21309E-5 41217 0 NA
16-50335059-C-T p.His434His synonymous ADCY7 2 82416 2.42671E-5 41208 0 8.05432E-6
16-50335060-G-A p.Gly435Arg missense ADCY7 1 82430 1.21315E-5 41215 0 4.02781E-6
16-50335070-G-A p.Arg438Gln missense ADCY7 1 82372 1.214E-5 41186 0 NA
16-50335074-C-A p.Asp439Glu missense ADCY7 279 82326 0.00338897 41163 2 0.00558712
16-50335078-T-C p.Tyr441His missense ADCY7 2 82312 2.42978E-5 41156 0 2.15183E-5
16-50335083-C-T p.Leu442Leu synonymous ADCY7 8 82290 9.72172E-5 41145 0 0.00201613
16-50335083-CAAG-C p.Lys443del conservative_inframe_deletion ADCY7 1 82292 1.21518E-5 41146 0 4.10496E-6
16-50335090-A-G p.Met445Val missense ADCY7 1 82210 1.2164E-5 41105 0 2.33678E-5
16-50335099-C-T p.Arg448Cys missense ADCY7 8 82074 9.7473E-5 41037 0 1.27657E-4
16-50335100-G-A p.Arg448His missense ADCY7 3 82026 3.65738E-5 41013 0 1.27953E-5
16-50335116-C-T p.Ile453Ile synonymous ADCY7 5 81684 6.12115E-5 40842 0 5.06586E-4
16-50335117-G-A p.Asp454Asn missense ADCY7 2 81664 2.44906E-5 40832 0 1.43486E-4
16-50335119-C-T p.Asp454Asp synonymous ADCY7 3 81628 3.67521E-5 40814 0 3.2002E-5
16-50335120-C-A p.Pro455Thr missense ADCY7 1 81620 1.22519E-5 40810 0 NA
16-50335123-C-T p.Arg456Trp missense+splice_region ADCY7 2 81536 2.4529E-5 40768 0 1.79173E-5
16-50335130-G-A c.1368+5G>A splice_region ADCY7 3 81352 3.68768E-5 40676 0 1.29213E-4
16-50335132-G-A c.1368+7G>A splice_region ADCY7 1 81298 1.23004E-5 40649 0 4.47547E-5
16-50338266-C-T c.1369-5C>T splice_region ADCY7 2 74772 2.6748E-5 37386 0 3.19509E-5
16-50338285-C-A p.Pro461Pro synonymous ADCY7 10 77554 1.28942E-4 38777 0 8.80683E-5
16-50338287-C-T p.Pro462Leu missense ADCY7 12 77678 1.54484E-4 38839 0 1.59632E-4
16-50338300-C-A p.His466Gln missense ADCY7 3 79286 3.78377E-5 39643 0 0.001875
16-50338302-T-G p.Leu467Arg missense ADCY7 1 79376 1.25983E-5 39688 0 NA
16-50338321-C-A p.Asp473Glu missense ADCY7 1 80852 1.23683E-5 40426 0 NA
16-50338321-C-T p.Asp473Asp synonymous ADCY7 1 80852 1.23683E-5 40426 0 6.3804E-5
16-50338322-G-A p.Ala474Thr missense ADCY7 48 80926 5.93134E-4 40463 0 6.25E-4
16-50338323-C-T p.Ala474Val missense ADCY7 7 81018 8.64006E-5 40509 0 1.66442E-4
16-50338325-G-A p.Ala475Thr missense ADCY7 6 81220 7.38734E-5 40610 0 6.05016E-4
16-50338341-C-T p.Ala480Val missense ADCY7 548 81824 0.0066973 40912 5 0.0181818
16-50338342-G-A p.Ala480Ala synonymous ADCY7 3 81886 3.66363E-5 40943 0 6.16186E-5
16-50338348-G-A p.Val482Val synonymous ADCY7 6 82140 7.3046E-5 41070 0 5.04541E-4
16-50338349-C-T p.Arg483Cys missense ADCY7 1 82136 1.21749E-5 41068 0 4.06289E-6
16-50338358-C-T p.Arg486Trp missense ADCY7 1 82274 1.21545E-5 41137 0 8.66131E-6
16-50338359-G-A p.Arg486Gln missense ADCY7 1 82268 1.21554E-5 41134 0 3.18857E-5
16-50338366-C-T p.Leu488Leu synonymous ADCY7 2 82324 2.42943E-5 41162 0 5.04541E-4
16-50338367-G-A p.Glu489Lys missense ADCY7 27 82292 3.281E-4 41146 0 5.04541E-4
16-50338378-G-T p.Gly492Gly synonymous ADCY7 1 82412 1.21342E-5 41206 0 NA
16-50338381-G-A p.Ala493Ala synonymous ADCY7 15 82414 1.82008E-4 41207 0 1.20153E-4
16-50338385-C-T p.Arg495Trp missense ADCY7 1 82458 1.21274E-5 41229 0 NA
16-50338396-A-C p.Ala498Ala synonymous ADCY7 4 82536 4.84637E-5 41268 0 8.60348E-6
16-50338406-C-T p.His502Tyr missense ADCY7 3 82518 3.63557E-5 41259 0 4.08757E-6
16-50338410-G-A p.Arg503His missense ADCY7 3 82458 3.63822E-5 41229 0 0.00100806
16-50338414-G-A p.Glu504Glu synonymous ADCY7 2 82474 2.42501E-5 41237 0 8.34752E-6
16-50338417-C-T p.Ser505Ser synonymous ADCY7 6 82446 7.27749E-5 41223 0 3.79385E-5
16-50338418-G-A p.Val506Met missense ADCY7 9 82446 1.09162E-4 41223 0 6.25E-4
16-50338420-G-A p.Val506Val synonymous ADCY7 4 82462 4.85072E-5 41231 0 0.00100806
16-50338422-G-A p.Ser507Asn missense ADCY7 1 82464 1.21265E-5 41232 0 NA
16-50338423-C-T p.Ser507Ser synonymous ADCY7 1 82448 1.21289E-5 41224 0 4.31887E-6
16-50338439-G-A p.Val513Ile missense ADCY7 1 82110 1.21788E-5 41055 0 6.38162E-5
16-50338447-C-T p.Asn515Asn synonymous ADCY7 11 82030 1.34097E-4 41015 0 1.59459E-4
16-50338447-C-A p.Asn515Lys missense ADCY7 1 82032 1.21904E-5 41016 0 9.72176E-6
16-50338448-G-A p.Gly516Arg missense ADCY7 22 81962 2.68417E-4 40981 0 3.50743E-4
16-50338452-G-A p.Arg517Gln missense ADCY7 3 81856 3.66497E-5 40928 0 NA
16-50338452-G-T p.Arg517Leu missense ADCY7 1 81856 1.22166E-5 40928 0 NA
16-50338457-C-T p.Pro519Ser missense ADCY7 2 81852 2.44343E-5 40926 0 2.04225E-5
16-50338468-T-TC c.1560+6_1560+7insC splice_region ADCY7 1 81244 1.23086E-5 40622 0 1.86501E-5
16-50338469-C-T c.1560+7C>T splice_region ADCY7 2 81312 2.45966E-5 40656 0 4.39502E-5
16-50338829-C-G c.1561-7C>G splice_region ADCY7 1 81632 1.22501E-5 40816 0 7.95995E-6
16-50338831-T-C c.1561-5T>C splice_region ADCY7 2 81586 2.4514E-5 40793 0 2.4841E-5
16-50338838-C-T p.Arg510Cys missense+splice_region ADCY7 2 81444 2.45567E-5 40722 0 5.03525E-4
16-50338839-G-A p.Val522Ile missense ADCY7 9 81438 1.10514E-4 40719 0 0.00100705
16-50338848-C-T p.Arg525Cys missense ADCY7 2 81354 2.45839E-5 40677 0 8.30068E-5
16-50338849-G-A p.Arg525His missense ADCY7 6 81350 7.37554E-5 40675 0 0.00100705
16-50338852-AC-A p.Arg527fs frameshift ADCY7 1 81328 1.22959E-5 40664 0 3.98346E-6
16-50338854-C-A p.Arg527Ser missense ADCY7 6 81400 7.37101E-5 40700 0 3.38624E-4
16-50338857-C-T p.Arg528Trp missense ADCY7 5 81350 6.14628E-5 40675 0 0.00100705
16-50338858-G-A p.Arg528Gln missense ADCY7 4 81346 4.91727E-5 40673 0 3.98394E-5
16-50338867-A-G p.Asp531Gly missense ADCY7 1 81214 1.23131E-5 40607 0 1.59418E-5
16-50338874-C-G c.1595+4C>G splice_region ADCY7 1 81054 1.23375E-5 40527 0 1.99481E-5
16-50339406-G-A c.1596-8G>A splice_region ADCY7 1 82092 1.21815E-5 41046 0 NA
16-50339411-C-T c.1596-3C>T splice_region ADCY7 2 82202 2.43303E-5 41101 0 1.19932E-5
16-50339429-G-C p.Lys537Asn missense ADCY7 1 82504 1.21206E-5 41252 0 8.02163E-6
16-50339429-G-A p.Gly526Arg missense ADCY7 2 82504 2.42412E-5 41252 0 4.01081E-5
16-50339431-G-A p.Gly538Glu missense ADCY7 1 82518 1.21186E-5 41259 0 4.01787E-6
16-50339437-C-T p.Ser540Leu missense ADCY7 1 82544 1.21148E-5 41272 0 5.08276E-5
16-50339438-G-A p.Gly529Arg missense ADCY7 95 82562 0.00115065 41281 1 0.00194367
16-50339439-G-C p.Glu541Gln missense ADCY7 4 82594 4.84297E-5 41297 0 3.18654E-5
16-50339449-C-T p.Ser544Leu missense ADCY7 2 82660 2.41955E-5 41330 0 2.06853E-4
16-50339450-G-T p.Ser544Ser synonymous ADCY7 1 82664 1.20972E-5 41332 0 NA
16-50339453-C-T p.Tyr545Tyr synonymous ADCY7 262 82682 0.00316877 41341 3 0.00704935
16-50339454-G-A p.Asp546Asn missense ADCY7 3 82706 3.62731E-5 41353 0 3.18756E-5
16-50339468-G-A p.Leu550Leu synonymous ADCY7 1 82708 1.20907E-5 41354 0 NA
16-50339476-T-C p.Ile553Thr missense ADCY7 1 82696 1.20925E-5 41348 0 3.18837E-5
16-50339483-G-A p.Gly555Gly synonymous ADCY7 1116 82622 0.0135073 41311 39 0.0297813
16-50339487-A-G p.Ser557Gly missense ADCY7 1 82606 1.21057E-5 41303 0 1.54499E-4
16-50339680-G-A c.1680-8G>A splice_region ADCY7 8 81676 9.7948E-5 40838 0 1.59479E-4
16-50339683-C-G c.1680-5C>G splice_region ADCY7 1 81860 1.2216E-5 40930 0 NA
16-50339690-C-T p.Pro561Leu missense+splice_region ADCY7 4 81836 4.88782E-5 40918 0 9.56023E-5
16-50339706-C-T p.Arg433* stop_gained ADCY7 6 81872 7.32851E-5 40936 0 3.18512E-5
16-50339707-G-A p.Asp567Asn missense ADCY7 1 81886 1.22121E-5 40943 0 1.99086E-5
16-50339709-T-A p.Ter434Argext*? stop_lost ADCY7 1 81886 1.22121E-5 40943 0 3.31126E-5
16-50339712-C-T p.Asp568Asp synonymous ADCY7 2 81908 2.44176E-5 40954 0 1.49049E-4
16-50339733-C-G p.Ile575Met missense ADCY7 2 81770 2.44588E-5 40885 0 1.99141E-5
16-50339755-C-T p.Arg583Cys missense ADCY7 1 81506 1.2269E-5 40753 0 5.5849E-5
16-50339756-G-A p.Arg583His missense ADCY7 15 81496 1.84058E-4 40748 0 0.00252016
16-50339757-C-T p.Arg583Arg synonymous ADCY7 14 81446 1.71893E-4 40723 0 0.00100806
16-50339758-G-A p.Glu584Lys missense+splice_region ADCY7 1 81454 1.22769E-5 40727 0 8.34502E-6
16-50339767-G-A c.1752+7G>A splice_region ADCY7 5 81344 6.14673E-5 40672 0 3.18674E-5
16-50339767-G-GC c.1752+7_1752+8insC splice_region ADCY7 2 81344 2.45869E-5 40672 1 NA
16-50340971-C-T p.Ala588Val missense ADCY7 1 80054 1.24916E-5 40027 0 NA
16-50340981-C-T p.Pro591Pro synonymous ADCY7 1 80656 1.23983E-5 40328 0 8.65906E-6
16-50340982-C-T p.Arg592Trp missense ADCY7 3 80384 3.73209E-5 40192 0 2.87411E-5
16-50340983-G-A p.Arg592Gln missense ADCY7 2 80714 2.47788E-5 40357 0 6.25E-4
16-50340989-G-A p.Arg594His missense ADCY7 18 81392 2.21152E-4 40696 0 0.00100908
16-50340992-A-G p.His595Arg missense ADCY7 1 81488 1.22717E-5 40744 0 3.19E-5
16-50340993-C-T p.His595His synonymous ADCY7 47 81534 5.76447E-4 40767 0 0.00127535
16-50340994-G-A p.Asp596Asn missense ADCY7 1 81554 1.22618E-5 40777 0 NA
16-50341005-C-T p.Cys599Cys synonymous ADCY7 3 81782 3.66829E-5 40891 0 5.86687E-5
16-50341006-G-A p.Ala600Thr missense ADCY7 2 81778 2.44565E-5 40889 0 2.51332E-5
16-50341013-T-A p.Leu602Gln missense ADCY7 2 81884 2.44248E-5 40942 0 3.18837E-5
16-50341021-G-A p.Val605Ile missense ADCY7 7 81854 8.55181E-5 40927 0 1.59357E-4
16-50341022-T-C p.Val605Ala missense ADCY7 1 81886 1.22121E-5 40943 0 NA
16-50341035-C-G p.Leu609Leu synonymous ADCY7 2 81858 2.44326E-5 40929 0 4.00481E-6
16-50341036-G-A p.Val610Ile missense ADCY7 27 81834 3.29936E-4 40917 0 2.84667E-4
16-50341036-G-C p.Val610Leu missense ADCY7 2 81834 2.44397E-5 40917 0 8.37254E-6
16-50341044-C-T p.Val612Val synonymous ADCY7 3 81788 3.66802E-5 40894 0 6.37389E-5
16-50341054-C-T p.Pro616Ser missense ADCY7 1 81592 1.22561E-5 40796 0 NA
16-50341066-G-T c.1850+8G>T splice_region ADCY7 259 81410 0.00318143 40705 2 0.00589472
16-50342232-C-G c.1851-6C>G splice_region ADCY7 4 82602 4.8425E-5 41301 1 1.23632E-4
16-50342238-G-C p.Arg617Ser missense+splice_region ADCY7 2 82708 2.41815E-5 41354 0 NA
16-50342240-C-T p.Thr618Met missense+splice_region ADCY7 2 82718 2.41785E-5 41359 0 1.91205E-4
16-50342241-G-A p.Thr618Thr synonymous ADCY7 2 82748 2.41698E-5 41374 0 1.64826E-5
16-50342243-C-T p.Ala619Val missense ADCY7 1 82782 1.20799E-5 41391 0 3.98778E-6
16-50342244-G-A p.Ala619Ala synonymous ADCY7 2 82808 2.41523E-5 41404 0 0.00100705
16-50342251-G-A p.Gly622Ser missense ADCY7 2 82892 2.41278E-5 41446 0 2.78978E-5
16-50342252-G-A p.Gly622Asp missense ADCY7 2 82892 2.41278E-5 41446 0 1.64813E-5
16-50342262-C-T p.Phe625Phe synonymous ADCY7 30 82906 3.61856E-4 41453 0 0.00201613
16-50342263-G-A p.Gly626Arg missense ADCY7 5 82908 6.03078E-5 41454 0 9.5645E-5
16-50342263-G-T p.Gly626Trp missense ADCY7 1 82908 1.20616E-5 41454 0 NA
16-50342264-G-T p.Gly626Val missense ADCY7 1 82918 1.20601E-5 41459 0 NA
16-50342265-G-A p.Gly626Gly synonymous ADCY7 1 82924 1.20592E-5 41462 0 NA
16-50342266-C-T p.Leu627Leu synonymous ADCY7 1 82926 1.20589E-5 41463 0 NA
16-50342284-G-T p.Gly633Trp missense ADCY7 1 82952 1.20552E-5 41476 0 NA
16-50342295-G-A p.Leu636Leu synonymous ADCY7 1 82902 1.20624E-5 41451 0 3.98705E-6
16-50342299-C-A p.Leu638Met missense ADCY7 1 82898 1.2063E-5 41449 0 8.24294E-6
16-50342304-C-G p.Cys639Trp missense ADCY7 3 82858 3.62065E-5 41429 0 2.47313E-5
16-50342308-GCCA-G p.Thr642del disruptive_inframe_deletion ADCY7 1 82848 1.20703E-5 41424 0 NA
16-50342310-C-T p.Ala641Ala synonymous ADCY7 2 82832 2.41453E-5 41416 0 5.03525E-4
16-50342321-C-T p.Ser645Leu missense+splice_region ADCY7 6 82654 7.25918E-5 41327 0 9.89985E-5
16-50342322-G-A p.Ser645Ser splice_region+synonymous ADCY7 2 82634 2.42031E-5 41317 0 6.25E-4
16-50342327-G-A c.1935+5G>A splice_region ADCY7 11 82570 1.3322E-4 41285 0 7.59526E-5
16-50342330-G-A c.1935+8G>A splice_region ADCY7 1 82526 1.21174E-5 41263 0 NA
16-50342570-C-T c.1936-8C>T splice_region ADCY7 2 82362 2.4283E-5 41181 0 1.21635E-5
16-50342582-G-A p.Cys647Tyr missense ADCY7 1 82412 1.21342E-5 41206 0 4.01197E-6
16-50342594-G-A p.Arg651Gln missense ADCY7 2 82460 2.42542E-5 41230 0 4.9985E-5
16-50342607-C-T p.Cys655Cys synonymous ADCY7 5 82470 6.06281E-5 41235 0 9.12318E-5
16-50342611-A-C p.Ile657Leu missense ADCY7 1 82506 1.21203E-5 41253 0 NA
16-50342611-A-G p.Ile657Val missense ADCY7 5 82506 6.06017E-5 41253 0 9.97041E-5
16-50342616-T-C p.Ser658Ser synonymous ADCY7 3 82500 3.63636E-5 41250 0 3.98832E-6
16-50342622-G-C p.Arg660Ser missense ADCY7 1 82458 1.21274E-5 41229 0 NA
16-50342624-T-C p.Val661Ala missense ADCY7 3 82410 3.64033E-5 41205 0 1.65777E-5
16-50342626-G-T p.Glu662* stop_gained ADCY7 2 82450 2.42571E-5 41225 0 NA
16-50342635-C-T p.Pro665Ser missense ADCY7 15 82480 1.81862E-4 41240 0 5.03525E-4
16-50342636-C-T p.Pro665Leu missense ADCY7 1 82496 1.21218E-5 41248 0 3.98944E-6
16-50342637-C-G p.Pro665Pro synonymous ADCY7 3 82480 3.63725E-5 41240 0 0.00100705
16-50342638-C-T p.Leu666Leu synonymous ADCY7 3 82492 3.63672E-5 41246 0 1.91071E-4
16-50342658-C-T p.Ala672Ala synonymous ADCY7 18045 81934 0.220238 40967 2330 0.284778
16-50342666-C-A p.Thr675Asn missense ADCY7 1 82380 1.21389E-5 41190 0 NA
16-50342669-T-C p.Ile676Thr missense ADCY7 2 82350 2.42866E-5 41175 0 NA
16-50342670-C-G p.Ile676Met missense ADCY7 1 82370 1.21403E-5 41185 0 NA
16-50342686-G-T p.Val682Leu missense ADCY7 1 82178 1.21687E-5 41089 0 8.86246E-5
16-50342692-A-G p.Ile684Val missense ADCY7 1 82144 1.21737E-5 41072 0 8.08597E-6
16-50342700-C-T p.Asn686Asn synonymous ADCY7 1 82028 1.2191E-5 41014 0 1.21949E-5
16-50342707-G-A c.2061+4G>A splice_region ADCY7 1 81826 1.22211E-5 40913 0 NA
16-50343454-T-C c.2062-5T>C splice_region ADCY7 41 82274 4.98335E-4 41137 0 0.00130665
16-50343459-C-T p.Pro688Ser missense+splice_region ADCY7 42 82346 5.10043E-4 41173 1 6.25E-4
16-50343468-C-T p.Pro691Ser missense ADCY7 1 82416 1.21336E-5 41208 0 1.49251E-4
16-50343490-C-T p.Pro698Leu missense ADCY7 1 82508 1.212E-5 41254 0 NA
16-50343496-G-A p.Gly700Asp missense ADCY7 1 82514 1.21192E-5 41257 0 NA
16-50343500-T-C p.Asn701Asn synonymous ADCY7 3 82506 3.6361E-5 41253 0 7.96997E-6
16-50343511-T-C p.Leu705Pro missense ADCY7 1 82478 1.21244E-5 41239 0 3.98934E-6
16-50343518-C-T p.Ala707Ala synonymous ADCY7 1 82436 1.21306E-5 41218 0 1.27462E-4
16-50343519-G-T p.Ala708Ser missense ADCY7 1 82412 1.21342E-5 41206 0 NA
16-50343519-G-A p.Ala708Thr missense ADCY7 1 82412 1.21342E-5 41206 0 3.18735E-5
16-50343520-C-T p.Ala708Val missense ADCY7 2 82398 2.42724E-5 41199 0 2.79922E-5
16-50343521-G-A p.Ala708Ala synonymous ADCY7 1 82420 1.2133E-5 41210 0 3.32105E-5
16-50343531-A-T p.Thr712Ser missense ADCY7 1 82396 1.21365E-5 41198 0 NA
16-50343532-C-CAAG p.Arg713dup conservative_inframe_insertion ADCY7 2 82400 2.42718E-5 41200 0 NA
16-50343534-A-G p.Arg713Gly missense ADCY7 1 82378 1.21392E-5 41189 0 1.66622E-5
16-50343540-C-G p.Leu715Val missense ADCY7 3 82320 3.64431E-5 41160 0 1.89188E-4
16-50343549-C-A p.Pro718Thr missense ADCY7 7 82186 8.51727E-5 41093 0 1.49628E-4
16-50343549-C-T p.Pro718Ser missense ADCY7 2 82186 2.4335E-5 41093 0 8.44381E-6
16-50343550-C-G p.Pro718Arg missense ADCY7 1 82146 1.21734E-5 41073 0 NA
16-50343557-G-A p.Pro720Pro splice_region+synonymous ADCY7 20 82030 2.43813E-4 41015 0 0.001875
16-50343565-C-T c.2160+8C>T splice_region ADCY7 1 81858 1.22163E-5 40929 0 3.18654E-5
16-50344367-C-G p.His721Gln missense+splice_region ADCY7 2 77680 2.57467E-5 38840 0 1.59286E-4
16-50344371-C-T p.His723Tyr missense ADCY7 1 77926 1.28327E-5 38963 0 NA
16-50344386-C-T p.Arg728Cys missense ADCY7 91 78522 0.00115891 39261 0 0.00328402
16-50344387-G-A p.Arg728His missense ADCY7 4 78608 5.08854E-5 39304 0 1.53728E-4
16-50344388-T-C p.Arg728Arg synonymous ADCY7 2 78726 2.54046E-5 39363 0 3.18512E-5
16-50344440-A-T c.*608A>T splice_region ADCY7 1 80532 1.24174E-5 40266 0 NA
16-50344590-C-T c.2161-8C>T splice_region ADCY7 4 82636 4.84051E-5 41318 0 9.57488E-5
16-50344592-CCT-C c.2161-5_2161-4delCT splice_region ADCY7 1 82678 1.20951E-5 41339 0 3.1902E-5
16-50344595-C-T c.2161-3C>T splice_region ADCY7 1 82722 1.20887E-5 41361 0 NA
16-50344597-GTAC-G p.Tyr722del conservative_inframe_deletion ADCY7 2 82752 2.41686E-5 41376 0 3.18878E-5
16-50344603-C-T p.Tyr722Tyr synonymous ADCY7 1 82828 1.20732E-5 41414 0 3.98781E-5
16-50344623-G-A p.Gly729Asp missense ADCY7 2 82942 2.41132E-5 41471 0 NA
16-50344625-TTCA-T p.Ile731del conservative_inframe_deletion ADCY7 1 82942 1.20566E-5 41471 0 NA
16-50344627-C-T p.Phe730Phe synonymous ADCY7 8 82968 9.64227E-5 41484 0 9.56389E-5
16-50344628-A-C p.Ile731Leu missense ADCY7 1 82976 1.20517E-5 41488 0 3.97852E-6
16-50344628-A-G p.Ile731Val missense ADCY7 3 82976 3.6155E-5 41488 0 NA
16-50344630-C-T p.Ile731Ile synonymous ADCY7 2 82946 2.41121E-5 41473 0 3.18878E-5
16-50344638-C-T p.Ser734Leu missense ADCY7 2 82976 2.41034E-5 41488 0 1.91327E-4
16-50344639-G-C p.Ser734Ser synonymous ADCY7 1 82986 1.20502E-5 41493 0 NA
16-50344639-G-A p.Ser734Ser synonymous ADCY7 1 82986 1.20502E-5 41493 0 5.03525E-4
16-50344646-C-T p.Leu737Leu synonymous ADCY7 7 83042 8.42947E-5 41521 0 0.00125
16-50344648-G-A p.Leu737Leu synonymous ADCY7 9 83032 1.08392E-4 41516 0 6.3743E-5
16-50344672-T-G p.Val745Val synonymous ADCY7 8 82898 9.65041E-5 41449 0 2.475E-5
16-50344677-T-C p.Leu747Pro missense ADCY7 1 82876 1.20662E-5 41438 0 NA
16-50344691-C-T p.Leu752Leu synonymous ADCY7 81 82738 9.78994E-4 41369 0 9.8652E-4
16-50344703-C-T p.Leu756Leu synonymous ADCY7 1 82560 1.21124E-5 41280 0 NA
16-50344706-G-A p.Val757Met missense ADCY7 1 82476 1.21247E-5 41238 0 3.98111E-6
16-50344708-G-A p.Val757Val synonymous ADCY7 1 82416 1.21336E-5 41208 0 1.19451E-5
16-50344720-C-T p.Leu761Leu synonymous ADCY7 2 82102 2.43599E-5 41051 0 NA
16-50344723-C-T p.Ser762Ser synonymous ADCY7 1 81964 1.22005E-5 40982 0 NA
16-50344725-C-T p.Pro763Leu missense ADCY7 25 81896 3.05265E-4 40948 0 0.00151057
16-50344736-T-A p.Trp767Arg missense ADCY7 1 81286 1.23022E-5 40643 0 3.99923E-6
16-50344747-C-T p.Cys770Cys synonymous ADCY7 6 79974 7.50244E-5 39987 0 5.64553E-5
16-50344752-A-G p.Gln772Arg missense ADCY7 7 79262 8.83147E-5 39631 0 9.56267E-5
16-50344767-T-C p.Leu777Pro missense ADCY7 1 76838 1.30144E-5 38419 0 NA
16-50344774-G-A p.Lys779Lys synonymous ADCY7 2 75616 2.64494E-5 37808 0 2.43861E-5
16-50344790-A-AGGTGGGGTCCCGCCCGTCCCCGTCCCCATCCCCAT p.Leu756fs frameshift ADCY7 1 72120 1.38658E-5 36060 0 2.27846E-5
16-50344791-G-T p.Ser785Ile missense+splice_region ADCY7 1 71764 1.39346E-5 35882 0 3.18654E-5
16-50345596-G-A c.2355-8G>A splice_region ADCY7 2 82936 2.4115E-5 41468 0 7.95773E-5
16-50345597-C-A c.2355-7C>A splice_region ADCY7 1 82966 1.20531E-5 41483 0 NA
16-50345599-T-C c.2355-5T>C splice_region ADCY7 1 83014 1.20462E-5 41507 0 3.97753E-6
16-50345611-C-T p.Pro788Ser missense ADCY7 1 83118 1.20311E-5 41559 0 NA
16-50345612-C-T p.Pro788Leu missense ADCY7 1 83126 1.20299E-5 41563 0 NA
16-50345621-C-T p.Ser791Phe missense ADCY7 1 83154 1.20259E-5 41577 0 NA
16-50345623-TGGAA-T p.Lys793fs frameshift ADCY7 1 83172 1.20233E-5 41586 0 NA
16-50345623-T-A p.Trp792Arg missense ADCY7 1 83172 1.20233E-5 41586 0 NA
16-50345641-A-G p.Met798Val missense ADCY7 18 83150 2.16476E-4 41575 0 1.43155E-4
16-50345642-T-G p.Met798Arg missense ADCY7 3 83136 3.60855E-5 41568 0 9.60799E-5
16-50345653-T-C p.Tyr802His missense ADCY7 1 83036 1.2043E-5 41518 0 2.9426E-4
16-50345658-G-C p.Leu803Leu synonymous ADCY7 1 82998 1.20485E-5 41499 0 NA
16-50345658-G-A p.Leu803Leu synonymous ADCY7 1 82998 1.20485E-5 41499 0 8.23764E-6
16-50345661-C-G p.Val804Val synonymous ADCY7 2 82968 2.41057E-5 41484 0 NA
16-50345684-C-T p.Thr812Ile missense ADCY7 1 82514 1.21192E-5 41257 0 8.23859E-6
16-50345691-C-T p.Ser814Ser synonymous ADCY7 2 82350 2.42866E-5 41175 0 NA
16-50345699-T-TTC c.2448+2_2448+3insTC splice_region ADCY7 1 81650 1.22474E-5 40825 0 NA
16-50345705-G-A c.2448+8G>A splice_region ADCY7 1 81286 1.23022E-5 40643 0 4.37713E-5
16-50345947-A-G p.Ile817Val missense+splice_region ADCY7 1 83102 1.20334E-5 41551 0 1.591E-5
16-50345948-T-C p.Ile817Thr missense+splice_region ADCY7 1 83108 1.20325E-5 41554 0 2.47239E-5
16-50345952-C-T p.Asp818Asp synonymous ADCY7 6 83122 7.21831E-5 41561 0 5.04032E-4
16-50345958-C-T p.Tyr820Tyr synonymous ADCY7 1 83176 1.20227E-5 41588 0 1.19308E-5
16-50345963-G-A p.Arg822His missense ADCY7 1 83166 1.20241E-5 41583 0 8.23805E-6
16-50345963-G-T p.Arg822Leu missense ADCY7 1 83166 1.20241E-5 41583 0 NA
16-50345965-T-C p.Leu823Leu synonymous ADCY7 2 83172 2.40466E-5 41586 0 NA
16-50345968-G-C p.Asp824His missense ADCY7 1 83186 1.20213E-5 41593 0 8.23778E-6
16-50345971-T-G p.Cys825Gly missense ADCY7 1 83208 1.20181E-5 41604 0 3.97649E-6
16-50345974-C-G p.Leu826Val missense ADCY7 3 83232 3.60438E-5 41616 0 NA
16-50345977-T-C p.Trp827Arg missense ADCY7 3 83254 3.60343E-5 41627 0 3.29489E-5
16-50345977-T-A p.Trp827Arg missense ADCY7 1 83254 1.20114E-5 41627 0 3.18492E-5
16-50345978-GGAA-G p.Lys830del conservative_inframe_deletion ADCY7 2 83244 2.40258E-5 41622 0 4.11868E-5
16-50345986-AA-TT p.Lys830Leu missense ADCY7 13 83252 1.56152E-4 41626 0 NA
16-50345986-A-T p.Lys830* stop_gained ADCY7 9 83252 1.08106E-4 41626 0 2.54483E-4
16-50345987-A-T p.Lys830Met missense ADCY7 2 83264 2.402E-5 41632 0 1.7098E-4
16-50345995-A-G p.Lys833Glu missense ADCY7 1 83246 1.20126E-5 41623 0 1.1929E-5
16-50346006-G-A p.Glu836Glu synonymous ADCY7 1 83238 1.20137E-5 41619 0 3.97636E-6
16-50346027-C-T p.Asn843Asn synonymous ADCY7 1 83208 1.20181E-5 41604 0 5.03525E-4
16-50346028-G-C p.Val844Leu missense ADCY7 1 83212 1.20175E-5 41606 0 6.3674E-5
16-50346028-G-A p.Val844Met missense ADCY7 1 83212 1.20175E-5 41606 0 6.25E-4
16-50346030-G-A p.Val844Val synonymous ADCY7 70 83208 8.41265E-4 41604 0 6.52139E-4
16-50346034-C-T p.Arg846Cys missense ADCY7 1 83200 1.20192E-5 41600 0 2.47117E-5
16-50346043-C-T p.Leu849Leu synonymous ADCY7 8 83192 9.61631E-5 41596 0 1.98823E-5
16-50346051-C-T p.Asn851Asn synonymous ADCY7 16 83132 1.92465E-4 41566 0 1.86901E-4
16-50346066-C-T p.His856His synonymous ADCY7 3 82952 3.61655E-5 41476 0 3.2956E-5
16-50346067-G-A p.Val857Met missense ADCY7 4 82952 4.82207E-5 41476 0 6.37024E-5
16-50346084-C-T p.Ile862Ile synonymous ADCY7 98 82646 0.00118578 41323 1 0.00654582
16-50346089-A-C p.Asp864Ala missense ADCY7 1 82550 1.21139E-5 41275 0 3.1904E-5
16-50346099-C-T p.Asn867Asn synonymous ADCY7 6 82112 7.30709E-5 41056 0 8.39174E-5
16-50346100-G-A p.Glu868Lys missense+splice_region ADCY7 1 82074 1.21841E-5 41037 0 3.31598E-5
16-50346110-G-A c.2604+8G>A splice_region ADCY7 1 81648 1.22477E-5 40824 0 3.3761E-5
16-50346797-C-T c.2605-4C>T splice_region ADCY7 5 83326 6.00053E-5 41663 0 9.55718E-5
16-50346815-G-C p.Gln873His missense ADCY7 1 83362 1.19959E-5 41681 0 7.95399E-6
16-50346821-T-C p.Tyr875Tyr synonymous ADCY7 1 83376 1.19939E-5 41688 0 0.00151057
16-50346826-G-C p.Cys877Ser missense ADCY7 8 83382 9.5944E-5 41691 0 3.18552E-5
16-50346827-C-T p.Cys877Cys synonymous ADCY7 3 83386 3.59773E-5 41693 0 5.03525E-4
16-50346828-G-A p.Val878Ile missense ADCY7 4 83384 4.79708E-5 41692 0 9.55475E-5
16-50346830-C-G p.Val878Val synonymous ADCY7 4 83384 4.79708E-5 41692 0 1.64758E-5
16-50346848-C-T p.Ser884Ser synonymous ADCY7 5 83376 5.99693E-5 41688 0 3.18593E-5
16-50346853-C-T p.Pro886Leu missense ADCY7 2 83380 2.39866E-5 41690 0 8.23845E-6
16-50346860-C-T p.Phe888Phe synonymous ADCY7 2 83384 2.39854E-5 41692 0 1.19293E-5
16-50346872-C-T p.Tyr892Tyr synonymous ADCY7 1 83380 1.19933E-5 41690 0 NA
16-50346882-G-A p.Asp896Asn missense ADCY7 1 83372 1.19944E-5 41686 0 6.37024E-5
16-50346886-T-C p.Val897Ala missense ADCY7 1 83366 1.19953E-5 41683 0 NA
16-50346903-G-A p.Glu903Lys missense ADCY7 1 83328 1.20008E-5 41664 0 NA
16-50346909-C-T p.Leu905Leu synonymous ADCY7 2 83340 2.39981E-5 41670 0 0.0025
16-50346926-G-A p.Glu910Glu synonymous ADCY7 2 83306 2.40079E-5 41653 0 NA
16-50346931-T-C p.Ile912Thr missense ADCY7 1 83282 1.20074E-5 41641 0 9.55414E-5
16-50346941-C-T p.Phe915Phe synonymous ADCY7 3 83244 3.60386E-5 41622 0 1.65008E-5
16-50346944-C-T p.Asp916Asp synonymous ADCY7 4 83188 4.80839E-5 41594 0 6.37024E-5
16-50346947-G-A p.Glu917Glu splice_region+synonymous ADCY7 1 83188 1.2021E-5 41594 0 NA
16-50347862-C-T c.2752-7C>T splice_region ADCY7 1 82614 1.21045E-5 41307 0 3.18451E-5
16-50347865-G-A c.2752-4G>A splice_region ADCY7 1 82752 1.20843E-5 41376 0 2.0055E-4
16-50347880-GC-G p.Lys923fs frameshift ADCY7 1 82990 1.20496E-5 41495 0 NA
16-50347892-C-T p.Ser925Ser synonymous ADCY7 3 83078 3.61106E-5 41539 0 1.59266E-4
16-50347893-G-A p.Gly926Ser missense ADCY7 5 83068 6.01917E-5 41534 0 1.65161E-5
16-50347895-C-T p.Gly926Gly synonymous ADCY7 5 83084 6.01801E-5 41542 0 1.27405E-4
16-50347897-TGGA-T p.Glu928del conservative_inframe_deletion ADCY7 2 83104 2.40662E-5 41552 0 6.37511E-5
16-50347916-C-T p.Ile933Ile synonymous ADCY7 9 83134 1.08259E-4 41567 0 2.86606E-4
16-50347916-C-CG p.Ser935fs frameshift ADCY7 1 83134 1.20288E-5 41567 0 NA
16-50347917-G-A p.Gly934Ser missense ADCY7 7 83122 8.42136E-5 41561 0 5.60723E-4
16-50347924-C-T p.Thr936Met missense ADCY7 3 83120 3.60924E-5 41560 0 4.1231E-5
16-50347925-G-A p.Thr936Thr synonymous ADCY7 3 83128 3.60889E-5 41564 0 2.4739E-5
16-50347926-T-TA p.Tyr937fs frameshift ADCY7 1 83128 1.20296E-5 41564 0 NA
16-50347929-A-T p.Met938Leu missense ADCY7 1 83118 1.20311E-5 41559 0 NA
16-50347948-G-A p.Ser944Asn missense ADCY7 2 82972 2.41045E-5 41486 0 3.97978E-6
16-50347949-C-T p.Ser944Ser synonymous ADCY7 417 82954 0.00502688 41477 9 0.00869538
16-50347953-G-A p.Ala946Thr missense ADCY7 2 82892 2.41278E-5 41446 0 3.18573E-5
16-50347960-G-C p.Gly948Ala missense ADCY7 20 82850 2.414E-4 41425 0 0.01
16-50347964-C-T p.His949His synonymous ADCY7 116 82746 0.00140188 41373 1 0.00125
16-50347970-C-T p.Asn951Asn synonymous ADCY7 1 82680 1.20948E-5 41340 0 NA
16-50347970-C-A p.Asn951Lys missense ADCY7 1 82680 1.20948E-5 41340 0 3.986E-6
16-50347978-T-G c.2856+5T>G splice_region ADCY7 1 82516 1.21189E-5 41258 0 NA
16-50348184-CCCACAGCCTGTCCCG-C c.2857-17_2857-3delCACAGCCTGTCCCGC splice_region ADCY7 1 81792 1.22261E-5 40896 0 NA
16-50348198-C-T c.2857-5C>T splice_region ADCY7 1 82070 1.21847E-5 41035 0 1.65937E-5
16-50348199-G-A c.2857-4G>A splice_region ADCY7 4 82084 4.87306E-5 41042 0 2.03299E-4
16-50348213-G-A p.Arg956Gln missense ADCY7 5 82300 6.07533E-5 41150 0 1.99019E-5
16-50348223-C-T p.Ala959Ala synonymous ADCY7 3 82452 3.63848E-5 41226 0 8.25082E-6
16-50348226-C-T p.His960His synonymous ADCY7 2 82466 2.42524E-5 41233 0 2.47496E-5
16-50348228-T-G p.Ile961Ser missense ADCY7 11 82470 1.33382E-4 41235 0 1.27453E-4
16-50348228-T-C p.Ile961Thr missense ADCY7 3 82470 3.63769E-5 41235 0 0.00125
16-50348228-T-A p.Ile961Asn missense ADCY7 1 82468 1.21259E-5 41234 0 8.24851E-6
16-50348232-T-A p.Gly962Gly synonymous ADCY7 1 82506 1.21203E-5 41253 0 NA
16-50348240-TGGA-T p.Glu966del conservative_inframe_deletion ADCY7 2 82512 2.42389E-5 41256 0 NA
16-50348253-C-T p.Ile969Ile synonymous ADCY7 3 82426 3.63963E-5 41213 0 6.25E-4
16-50348254-G-A p.Ala970Thr missense ADCY7 3 82384 3.64148E-5 41192 0 3.18715E-5
16-50348258-T-A p.Leu971Gln missense ADCY7 3 82426 3.63963E-5 41213 0 1.64938E-5
16-50348274-C-T p.Asp976Asp synonymous ADCY7 6 82166 7.30229E-5 41083 0 0.00125
16-50348275-G-A p.Gly977Ser missense ADCY7 3 82116 3.65337E-5 41058 0 1.27494E-4
16-50348305-C-T p.Arg987Cys missense ADCY7 2 81198 2.46311E-5 40599 0 0.00100806
16-50348314-G-A p.Val990Ile missense ADCY7 31 80388 3.8563E-4 40194 0 2.64304E-4
16-50348316-C-T p.Val990Val splice_region+synonymous ADCY7 2 80210 2.49345E-5 40105 0 1.68699E-5
16-50348317-G-A p.Gly991Ser missense+splice_region ADCY7 1 80142 1.24779E-5 40071 0 1.69607E-5
16-50348320-G-A c.2971+3G>A splice_region ADCY7 1 79848 1.25238E-5 39924 0 3.39225E-5
16-50348321-A-G c.2971+4A>G splice_region ADCY7 1 79636 1.25571E-5 39818 0 6.37227E-5
16-50348950-T-G p.Ala999Ala synonymous ADCY7 1 83332 1.20002E-5 41666 0 6.36862E-5
16-50348958-T-C p.Ile1002Thr missense ADCY7 1 83334 1.19999E-5 41667 0 3.18451E-5
16-50348959-T-C p.Ile1002Ile synonymous ADCY7 2 83334 2.39998E-5 41667 0 8.23873E-6
16-50348967-G-A p.Arg1005Gln missense ADCY7 1 83318 1.20022E-5 41659 0 2.47154E-5
16-50348971-A-G p.Lys1006Lys synonymous ADCY7 1 83332 1.20002E-5 41666 0 5.03525E-4
16-50348984-A-G p.Ile1011Val missense ADCY7 1 83326 1.20011E-5 41663 0 NA
16-50349025-C-T p.Ser1024Ser synonymous ADCY7 1 83266 1.20097E-5 41633 0 2.47435E-5
16-50349035-C-T p.Leu1028Phe missense ADCY7 1 83216 1.20169E-5 41608 0 6.37227E-5
16-50349036-T-C p.Leu1028Pro missense ADCY7 1 83216 1.20169E-5 41608 0 5.17339E-5
16-50349037-T-G p.Leu1028Leu synonymous ADCY7 6 83216 7.21015E-5 41608 0 6.25E-4
16-50349040-G-A p.Gly1029Gly synonymous ADCY7 1 83202 1.20189E-5 41601 0 NA
16-50349057-C-G c.3096+8C>G splice_region ADCY7 3 83078 3.61106E-5 41539 0 1.65739E-5
16-50349260-TC-T c.3097-8delC splice_region ADCY7 2 83232 2.40292E-5 41616 0 NA
16-50349275-C-T p.Thr1034Thr synonymous ADCY7 15 83294 1.80085E-4 41647 0 1.59357E-4
16-50349276-G-A p.Glu1035Lys missense ADCY7 11 83298 1.32056E-4 41649 1 6.37267E-5
16-50349284-C-G p.Thr1037Thr synonymous ADCY7 1 83320 1.20019E-5 41660 0 5.04032E-4
16-50349289-C-T p.Thr1039Ile missense ADCY7 24 83322 2.88039E-4 41661 0 8.25314E-4
16-50349293-C-A p.Ile1040Ile synonymous ADCY7 1 83336 1.19996E-5 41668 0 7.95748E-6
16-50349305-C-T p.Leu1044Leu synonymous ADCY7 1 83336 1.19996E-5 41668 0 1.64872E-5
16-50349306-G-A p.Gly1045Arg missense ADCY7 80 83332 9.60015E-4 41666 0 0.00248503
16-50349308-G-A p.Gly1045Gly synonymous ADCY7 1 83348 1.19979E-5 41674 0 6.37064E-5
16-50349311-C-T p.Tyr1046Tyr synonymous ADCY7 6 83356 7.19804E-5 41678 0 1.91131E-4
16-50349324-C-T p.Arg1051Cys missense ADCY7 1 83346 1.19982E-5 41673 0 8.24117E-6
16-50349326-T-C p.Arg1051Arg synonymous ADCY7 452 83336 0.00542383 41668 6 0.0120382
16-50349327-G-A p.Gly1052Ser missense ADCY7 1 83344 1.19985E-5 41672 0 NA
16-50349332-G-C p.Leu1053Leu synonymous ADCY7 1 83356 1.19967E-5 41678 0 3.97636E-6
16-50349339-G-A p.Val1056Ile missense ADCY7 19 83352 2.27949E-4 41676 0 0.00100705
16-50349350-A-G p.Lys1059Lys synonymous ADCY7 17 83348 2.03964E-4 41674 0 1.27389E-4
16-50349354-G-A p.Glu1061Lys missense ADCY7 1 83346 1.19982E-5 41673 0 8.24212E-6
16-50349365-T-C p.Thr1064Thr synonymous ADCY7 665 83328 0.00798051 41664 20 0.0150984
16-50349366-T-G p.Tyr1065Asp missense ADCY7 2 83330 2.4001E-5 41665 0 3.18431E-5
16-50349368-C-T p.Tyr1065Tyr synonymous ADCY7 1 83328 1.20008E-5 41664 0 NA
16-50349376-G-A p.Cys1068Tyr missense ADCY7 1 83324 1.20013E-5 41662 0 NA
16-50349380-G-T p.Thr1069Thr synonymous ADCY7 11 83302 1.3205E-4 41651 0 7.96128E-4
16-50349380-G-A p.Thr1069Thr synonymous ADCY7 6 83302 7.20271E-5 41651 0 3.57921E-5
16-50349402-C-G p.Leu1077Val missense ADCY7 1 83224 1.20158E-5 41612 0 2.48016E-5
16-50349408-C-A p.Leu1079Met missense ADCY7 1 83182 1.20218E-5 41591 0 7.95919E-6
16-50349409-T-G p.Leu1079Arg missense ADCY7 1 83178 1.20224E-5 41589 0 3.98102E-6
16-50349415-G-A p.Ter1081Ter stop_retained ADCY7 7 83148 8.41872E-5 41574 0 1.19456E-5
16-50349647-G-A n.1577G>A splice_region ADCY7 3 24574 1.2208E-4 12287 0 NA
16-50352033-T-C c.*2617T>C splice_region ADCY7 1 1724 5.80046E-4 862 0 3.18471E-5