Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-45614158-CGCGGCGGAGGCG-C p.Gly11_Gly14del disruptive_inframe_deletion ADCY1 1 5804 1.72295E-4 2902 0 5.68978E-4
7-45614189-G-A p.Gly16Asp missense ADCY1 1 20552 4.86571E-5 10276 0 NA
7-45614199-G-T p.Gly19Gly synonymous ADCY1 1 24866 4.02156E-5 12433 0 NA
7-45614201-G-T p.Gly20Val missense ADCY1 2 25106 7.96622E-5 12553 0 NA
7-45614202-C-T p.Gly20Gly synonymous ADCY1 1 25358 3.94353E-5 12679 0 NA
7-45614206-G-A p.Glu22Lys missense ADCY1 1 26244 3.81039E-5 13122 0 NA
7-45614208-G-A p.Glu22Glu synonymous ADCY1 1 26558 3.76534E-5 13279 0 NA
7-45614208-GC-AT p.GluArg22GluTrp missense ADCY1 1 26558 3.76534E-5 13279 0 NA
7-45614209-C-T p.Arg23Trp missense ADCY1 1 26804 3.73079E-5 13402 0 NA
7-45614211-G-T p.Arg23Arg synonymous ADCY1 1 27140 3.6846E-5 13570 0 NA
7-45614230-C-T p.Arg30Trp missense ADCY1 2 29242 6.83948E-5 14621 0 7.83638E-5
7-45614242-C-G p.Arg34Gly missense ADCY1 6 31104 1.92901E-4 15552 0 0.00490196
7-45614254-G-C p.Glu38Gln missense ADCY1 1 32864 3.04284E-5 16432 0 NA
7-45614270-C-G p.Pro43Arg missense ADCY1 1 35618 2.80757E-5 17809 0 NA
7-45614273-AGCTGGAGGC-A p.Glu46_Leu48del conservative_inframe_deletion ADCY1 1 36456 2.74303E-5 18228 0 NA
7-45614280-G-A p.Glu46Glu synonymous ADCY1 3 37394 8.02268E-5 18697 0 5.13347E-4
7-45614282-C-G p.Ala47Gly missense ADCY1 1 37578 2.66113E-5 18789 0 NA
7-45614301-G-A p.Thr53Thr synonymous ADCY1 1 40368 2.47721E-5 20184 0 NA
7-45614307-G-A p.Arg55Arg synonymous ADCY1 2 41498 4.81951E-5 20749 0 3.67377E-4
7-45614346-C-T p.Leu68Leu synonymous ADCY1 5 48958 1.02128E-4 24479 0 4.70124E-4
7-45614348-G-C p.Ser69Thr missense ADCY1 1 49390 2.0247E-5 24695 0 NA
7-45614358-G-T p.Ala72Ala synonymous ADCY1 1 50926 1.96363E-5 25463 0 2.33057E-5
7-45614359-G-A p.Gly73Ser missense ADCY1 5 51338 9.73937E-5 25669 0 1.01736E-4
7-45614376-C-G p.Ala78Ala synonymous ADCY1 1007 53982 0.0186544 26991 19 0.0371517
7-45614390-C-T p.Ala83Val missense ADCY1 12 56746 2.11469E-4 28373 0 0.00586819
7-45614393-C-G p.Pro84Arg missense ADCY1 1 58080 1.72176E-5 29040 0 5.98845E-6
7-45614395-G-C p.Gly85Arg missense ADCY1 2 58824 3.39997E-5 29412 0 3.29533E-5
7-45614396-G-C p.Gly85Ala missense ADCY1 1 59030 1.69405E-5 29515 0 NA
7-45614400-C-G p.Pro86Pro synonymous ADCY1 86 60100 0.00143095 30050 0 0.0164975
7-45614401-G-C p.Ala87Pro missense ADCY1 1 59808 1.67202E-5 29904 0 2.14408E-5
7-45614414-C-T p.Ala91Val missense ADCY1 1 64766 1.54402E-5 32383 0 1.30029E-5
7-45614429-C-T p.Pro96Leu missense ADCY1 1 69396 1.44101E-5 34698 0 NA
7-45614440-G-A p.Val100Ile missense ADCY1 1 72156 1.38589E-5 36078 0 6.25E-4
7-45614457-G-C p.Leu105Leu synonymous ADCY1 1 75488 1.32471E-5 37744 0 NA
7-45614460-C-T p.Leu106Leu synonymous ADCY1 1 75712 1.32079E-5 37856 0 NA
7-45614461-G-C p.Val107Leu missense ADCY1 2 75858 2.63651E-5 37929 0 8.85003E-6
7-45614475-C-T p.Val111Val synonymous ADCY1 2 77196 2.59081E-5 38598 0 NA
7-45614485-C-A p.Gln115Lys missense ADCY1 1 77758 1.28604E-5 38879 0 NA
7-45614487-G-A c.-330-1G>A splice_acceptor ADCY1 1 77918 1.2834E-5 38959 0 NA
7-45614492-C-T p.Pro117Leu missense ADCY1 1 77996 1.28212E-5 38998 0 3.20451E-5
7-45614496-G-C p.Gln118His missense ADCY1 1 78118 1.28011E-5 39059 0 NA
7-45614499-G-A p.Leu119Leu synonymous ADCY1 1 78280 1.27747E-5 39140 0 8.80514E-6
7-45614510-G-C p.Gly123Ala missense ADCY1 2 78310 2.55395E-5 39155 0 NA
7-45614535-C-G c.-283C>G 5_prime_UTR_premature_start_codon_gain ADCY1 1 78954 1.26656E-5 39477 0 1.76519E-5
7-45614538-C-T p.Thr132Thr synonymous ADCY1 2 78988 2.53203E-5 39494 0 3.19142E-5
7-45614558-C-T p.Pro139Leu missense ADCY1 1 79116 1.26397E-5 39558 0 NA
7-45614562-C-G p.Phe140Leu missense ADCY1 1 78888 1.26762E-5 39444 0 1.2518E-5
7-45614565-G-C p.Ala141Ala synonymous ADCY1 12 78766 1.5235E-4 39383 0 5.03525E-4
7-45614565-G-T p.Ala141Ala synonymous ADCY1 1 78766 1.26958E-5 39383 0 9.11378E-6
7-45614576-C-T p.Pro145Leu missense ADCY1 2 78754 2.53955E-5 39377 0 1.85715E-5
7-45614581-C-T p.Arg147Trp missense ADCY1 1 78614 1.27204E-5 39307 0 1.69069E-5
7-45614582-G-C p.Arg147Pro missense ADCY1 1 78636 1.27168E-5 39318 0 1.26649E-5
7-45614588-C-T p.Ser149Phe missense ADCY1 1 78686 1.27087E-5 39343 0 NA
7-45614589-C-T c.-229C>T 5_prime_UTR_premature_start_codon_gain ADCY1 1 78672 1.2711E-5 39336 0 NA
7-45614598-CGCT-C p.Ala153del disruptive_inframe_deletion ADCY1 2 78708 2.54104E-5 39354 0 NA
7-45614599-G-T p.Ala153Ser missense ADCY1 1 78774 1.26945E-5 39387 0 4.21845E-6
7-45614604-G-A p.Gly154Gly synonymous ADCY1 9 79106 1.13771E-4 39553 0 0.0015121
7-45614617-G-T p.Ala159Ser missense ADCY1 2 79192 2.52551E-5 39596 0 NA
7-45614628-G-A p.Gly162Gly synonymous ADCY1 1 79854 1.25229E-5 39927 0 NA
7-45614651-C-T p.Thr170Ile missense ADCY1 1 80470 1.2427E-5 40235 0 NA
7-45614668-T-C c.-150T>C 5_prime_UTR_premature_start_codon_gain ADCY1 1 80846 1.23692E-5 40423 0 4.06448E-6
7-45614671-C-A p.Leu177Met missense ADCY1 1 80836 1.23707E-5 40418 0 8.88036E-6
7-45614695-A-G p.Ile185Val missense ADCY1 2 81082 2.46664E-5 40541 0 NA
7-45614707-C-T p.Leu189Phe missense ADCY1 1 81018 1.23429E-5 40509 0 8.85489E-6
7-45614720-C-T p.Ala193Val missense ADCY1 1 80598 1.24073E-5 40299 0 NA
7-45614721-G-T p.Ala193Ala synonymous ADCY1 3 80588 3.72264E-5 40294 0 NA
7-45614742-C-T p.Ala200Ala synonymous ADCY1 1 80524 1.24187E-5 40262 0 8.92347E-6
7-45614757-C-T p.Ala205Ala synonymous ADCY1 1 80494 1.24233E-5 40247 0 NA
7-45614760-G-T p.Lys206Asn missense ADCY1 1 80448 1.24304E-5 40224 0 NA
7-45614763-C-G p.Arg207Arg synonymous ADCY1 1 80388 1.24397E-5 40194 0 8.28295E-6
7-45614788-G-A c.639+7G>A splice_region ADCY1 1 79800 1.25313E-5 39900 0 NA
7-45632349-T-TC c.640-9_640-8insC splice_region ADCY1 1 83300 1.20048E-5 41650 0 8.24498E-6
7-45632360-C-T c.-34C>T 5_prime_UTR_premature_start_codon_gain ADCY1 2 83328 2.40015E-5 41664 0 7.16218E-5
7-45632362-G-T p.Gly215Val missense ADCY1 2 83328 2.40015E-5 41664 0 6.76251E-5
7-45632381-C-T c.-13C>T 5_prime_UTR_premature_start_codon_gain ADCY1 1 83360 1.19962E-5 41680 0 8.2371E-6
7-45632384-C-T c.-10C>T 5_prime_UTR_premature_start_codon_gain ADCY1 11 83366 1.31948E-4 41683 0 1.27389E-4
7-45632385-G-A p.Gly223Ser missense ADCY1 1 83368 1.1995E-5 41684 0 2.47105E-5
7-45632402-G-A p.Gly228Gly synonymous ADCY1 3 83372 3.59833E-5 41686 0 2.47097E-5
7-45632412-C-A p.Arg232Arg synonymous ADCY1 2 83366 2.39906E-5 41683 0 3.9764E-6
7-45632413-G-A p.Arg232Gln missense ADCY1 1 83368 1.1995E-5 41684 0 8.23642E-6
7-45632422-C-G p.Thr235Ser missense ADCY1 2 83372 2.39889E-5 41686 0 8.23642E-6
7-45632426-G-A p.Glu236Glu synonymous ADCY1 5 83366 5.99765E-5 41683 0 1.59055E-5
7-45632443-C-T p.Ala242Val missense ADCY1 17 83346 2.03969E-4 41673 0 3.57864E-4
7-45632450-G-A p.Leu244Leu synonymous ADCY1 1 83338 1.19993E-5 41669 0 8.2371E-6
7-45632457-C-T p.Arg247Trp missense ADCY1 1 83346 1.19982E-5 41673 0 1.59297E-4
7-45632463-T-G p.Cys249Gly missense ADCY1 2 83334 2.39998E-5 41667 0 3.18471E-5
7-45632498-C-T p.Asn260Asn synonymous ADCY1 4 83178 4.80896E-5 41589 0 1.65161E-5
7-45632499-G-A p.Glu261Lys missense ADCY1 1 83168 1.20239E-5 41584 0 3.97899E-6
7-45649975-C-T c.790-3C>T splice_region ADCY1 4 80244 4.9848E-5 40122 0 6.3804E-5
7-45649982-G-A p.Arg265Gln missense ADCY1 4 80320 4.98008E-5 40160 0 1.20562E-5
7-45649986-C-T p.Leu266Leu synonymous ADCY1 2 80388 2.48793E-5 40194 0 NA
7-45650004-C-G p.Pro272Pro synonymous ADCY1 41 80598 5.08697E-4 40299 0 5.07099E-4
7-45650005-C-T p.Arg273Trp missense ADCY1 1 80618 1.24042E-5 40309 0 2.48032E-5
7-45650010-C-T p.Asn274Asn synonymous ADCY1 7 80674 8.6769E-5 40337 0 4.41239E-5
7-45650011-G-A p.Val275Ile missense ADCY1 2 80700 2.47831E-5 40350 0 4.01117E-5
7-45650016-C-T p.Ala276Ala synonymous ADCY1 1 80788 1.23781E-5 40394 0 NA
7-45650046-C-G p.Pro286Pro synonymous ADCY1 1 80834 1.2371E-5 40417 0 NA
7-45650055-G-A p.Arg289Arg synonymous ADCY1 1 80830 1.23716E-5 40415 0 NA
7-45650076-C-G p.Ile296Met missense ADCY1 2 80660 2.47954E-5 40330 0 NA
7-45650085-C-T p.His299His synonymous ADCY1 405 80556 0.00502756 40278 5 0.0175
7-45650086-G-A p.Asp300Asn missense ADCY1 1 80558 1.24134E-5 40279 0 1.65117E-5
7-45650090-A-G p.Asn301Ser missense ADCY1 1 80500 1.24224E-5 40250 0 4.01274E-6
7-45650091-T-C p.Asn301Asn synonymous ADCY1 1 80502 1.24221E-5 40251 0 8.25859E-6
7-45650094-G-T p.Val302Val splice_region+synonymous ADCY1 1 80480 1.24254E-5 40240 0 NA
7-45650102-G-A c.908+6G>A splice_region ADCY1 1 80390 1.24394E-5 40195 0 4.01535E-6
7-45662234-C-T p.Ile304Ile synonymous ADCY1 1 83110 1.20322E-5 41555 0 NA
7-45662250-G-A p.Val310Met missense ADCY1 1 83192 1.20204E-5 41596 0 NA
7-45662261-G-A p.Thr313Thr synonymous ADCY1 4 83196 4.80792E-5 41598 0 1.59114E-5
7-45662264-C-T p.Gly314Gly synonymous ADCY1 2 83230 2.40298E-5 41615 0 1.59101E-5
7-45662297-G-A p.Val325Val synonymous ADCY1 1 83230 1.20149E-5 41615 0 NA
7-45662306-C-T p.Leu328Leu synonymous ADCY1 11 83214 1.32189E-4 41607 0 1.39276E-4
7-45662307-A-G p.Asn329Asp missense ADCY1 2 83208 2.40361E-5 41604 0 NA
7-45662318-C-T p.Phe332Phe synonymous ADCY1 1 83170 1.20236E-5 41585 0 7.96578E-6
7-45662323-A-G p.Lys334Arg missense ADCY1 2 83168 2.40477E-5 41584 0 NA
7-45662327-C-T p.Phe335Phe synonymous ADCY1 56 83148 6.73498E-4 41574 0 0.0060423
7-45688262-C-T c.1021-7C>T splice_region ADCY1 2 83040 2.40848E-5 41520 0 1.64962E-5
7-45688271-G-A p.Glu341Glu splice_region+synonymous ADCY1 1 83088 1.20354E-5 41544 0 2.47337E-5
7-45688312-A-T p.Tyr355Phe missense ADCY1 1 83238 1.20137E-5 41619 0 NA
7-45688316-C-T p.Cys356Cys synonymous ADCY1 1 83216 1.20169E-5 41608 0 1.64821E-5
7-45688346-C-T p.Asp366Asp synonymous ADCY1 2 83230 2.40298E-5 41615 0 1.03424E-4
7-45688355-C-T p.His369His synonymous ADCY1 1 83216 1.20169E-5 41608 0 3.1839E-5
7-45688379-C-T p.Asp377Asp synonymous ADCY1 13 83202 1.56246E-4 41601 0 2.86642E-4
7-45688396-C-T p.Thr383Ile missense+splice_region ADCY1 3 83074 3.61124E-5 41537 0 6.37105E-5
7-45697341-C-T p.Ala388Ala synonymous ADCY1 4 81648 4.89908E-5 40824 0 1.81485E-4
7-45697344-C-T p.Thr389Thr synonymous ADCY1 1 81714 1.22378E-5 40857 0 1.80248E-5
7-45697345-G-A p.Glu390Lys missense ADCY1 2 81770 2.44588E-5 40885 0 8.95897E-6
7-45697365-T-C p.Arg396Arg synonymous ADCY1 1 82194 1.21663E-5 41097 0 NA
7-45697371-T-G p.Gly398Gly synonymous ADCY1 2 82276 2.43084E-5 41138 0 1.19666E-5
7-45697377-C-T p.His400His synonymous ADCY1 7 82340 8.50134E-5 41170 0 5.04032E-4
7-45697380-G-A p.Thr401Thr synonymous ADCY1 4 82344 4.85767E-5 41172 0 8.5952E-5
7-45697380-G-T p.Thr401Thr synonymous ADCY1 2 82344 2.42884E-5 41172 0 9.56145E-5
7-45697386-G-A p.Arg403Arg synonymous ADCY1 2 82416 2.42671E-5 41208 0 1.59589E-5
7-45697407-C-A p.Gly410Gly synonymous ADCY1 1 82486 1.21233E-5 41243 0 1.19588E-5
7-45697411-C-A p.Arg412Ser missense ADCY1 4 82458 4.85095E-5 41229 0 5.99808E-5
7-45697411-C-T p.Arg412Cys missense ADCY1 1 82458 1.21274E-5 41229 0 8.56869E-6
7-45697428-C-T p.Asp417Asp synonymous ADCY1 8 82266 9.72455E-5 41133 0 1.59612E-4
7-45697455-C-T p.Ala426Ala synonymous ADCY1 1 81756 1.22315E-5 40878 0 3.20472E-5
7-45697468-G-A p.Ala431Thr missense ADCY1 2 81082 2.46664E-5 40541 0 NA
7-45697470-C-T p.Ala431Ala synonymous ADCY1 5 80856 6.18383E-5 40428 0 0.00105521
7-45697491-C-T c.1307+7C>T splice_region ADCY1 3 78670 3.8134E-5 39335 0 8.64827E-5
7-45697492-G-A c.1307+8G>A splice_region ADCY1 5 79342 6.30183E-5 39671 0 1.09565E-4
7-45699636-T-C c.1308-5T>C splice_region ADCY1 1 83364 1.19956E-5 41682 0 8.24851E-6
7-45699661-C-G p.Thr443Arg missense ADCY1 5 83396 5.99549E-5 41698 0 1.27389E-4
7-45699662-G-A p.Thr443Thr synonymous ADCY1 3 83398 3.59721E-5 41699 0 6.36862E-5
7-45699662-G-T p.Thr443Thr synonymous ADCY1 1 83398 1.19907E-5 41699 0 NA
7-45699669-G-A p.Ala446Thr missense ADCY1 6 83400 7.19424E-5 41700 0 7.41375E-5
7-45699670-C-T p.Ala446Val missense ADCY1 2 83398 2.39814E-5 41699 0 3.1841E-5
7-45699674-C-T p.Cys447Cys synonymous ADCY1 1 83400 1.19904E-5 41700 0 8.23683E-6
7-45699701-G-A p.Pro456Pro synonymous ADCY1 1 83396 1.1991E-5 41698 0 3.18492E-5
7-45699707-C-T p.Tyr458Tyr synonymous ADCY1 2 83398 2.39814E-5 41699 0 3.9763E-6
7-45699708-G-A p.Gly459Arg missense ADCY1 3 83400 3.59712E-5 41700 0 3.18492E-5
7-45699721-A-G p.Asn463Ser missense ADCY1 2 83390 2.39837E-5 41695 0 NA
7-45699739-A-G p.His469Arg missense ADCY1 3 83368 3.5985E-5 41684 0 3.97636E-6
7-45699746-C-T p.Ile471Ile synonymous ADCY1 2 83366 2.39906E-5 41683 0 6.25E-4
7-45699774-C-T p.Arg481Cys missense ADCY1 1 83294 1.20057E-5 41647 0 3.18471E-5
7-45699790-C-T c.1449+8C>T splice_region ADCY1 5 83212 6.00875E-5 41606 0 6.25E-4
7-45701653-G-T c.1450-5G>T splice_region ADCY1 1453 83258 0.0174518 41629 21 0.0175
7-45701657-G-C c.1450-1G>C splice_acceptor ADCY1 1 83308 1.20036E-5 41654 0 NA
7-45701673-A-G p.Ile489Val missense ADCY1 1 83338 1.19993E-5 41669 0 3.58209E-5
7-45701693-G-A p.Pro495Pro synonymous ADCY1 2 83344 2.39969E-5 41672 0 NA
7-45701704-T-TGGG p.Met499_Lys500insGly conservative_inframe_insertion ADCY1 1 83330 1.20005E-5 41665 0 NA
7-45701717-T-C p.Thr503Thr synonymous ADCY1 1 83330 1.20005E-5 41665 0 NA
7-45701744-G-T p.Met512Ile missense ADCY1 1 83274 1.20085E-5 41637 0 NA
7-45701751-C-T p.Arg515Trp missense ADCY1 1 83266 1.20097E-5 41633 0 NA
7-45701752-G-A p.Arg515Gln missense ADCY1 2 83262 2.40206E-5 41631 0 NA
7-45701756-A-G p.Lys516Lys synonymous ADCY1 1 83254 1.20114E-5 41627 0 NA
7-45701762-C-T p.Phe518Phe synonymous ADCY1 1442 83220 0.0173276 41610 16 0.03875
7-45701768-C-T p.Ala520Ala synonymous ADCY1 15 83212 1.80262E-4 41606 0 1.27397E-4
7-45701772-A-T p.Ile522Phe missense ADCY1 1 83176 1.20227E-5 41588 0 NA
7-45701777-C-T p.Pro523Pro synonymous ADCY1 1 83160 1.2025E-5 41580 0 NA
7-45701794-C-T p.Thr529Ile missense ADCY1 1 83038 1.20427E-5 41519 0 4.00154E-6
7-45701798-C-T p.Cys530Cys synonymous ADCY1 1 82970 1.20525E-5 41485 0 2.40599E-5
7-45701799-G-A p.Glu531Lys missense ADCY1 2 82986 2.41005E-5 41493 0 NA
7-45701804-C-T p.Asp532Asp synonymous ADCY1 4 82938 4.82288E-5 41469 0 3.21722E-5
7-45703893-G-GATCC p.Ser318fs frameshift ADCY1 7 77176 9.07018E-5 38588 0 2.18481E-5
7-45703894-A-G p.Ile313Val missense ADCY1 1 77178 1.29571E-5 38589 0 NA
7-45703896-C-G p.Ile313Met missense ADCY1 4 77188 5.18215E-5 38594 0 NA
7-45703913-G-A p.Gly319Asp missense ADCY1 3 77202 3.88591E-5 38601 0 NA
7-45703929-G-A p.Leu324Leu synonymous ADCY1 1 77194 1.29544E-5 38597 0 7.27707E-6
7-45703954-C-T p.Arg333Trp missense ADCY1 8 77002 1.03893E-4 38501 0 1.59368E-4
7-45703955-G-A p.Arg333Gln missense ADCY1 5 76998 6.49368E-5 38499 0 6.37471E-5
7-45703958-G-A p.Gly334Glu missense ADCY1 1 76954 1.29948E-5 38477 0 7.29565E-6
7-45703961-G-A p.Arg335Gln missense ADCY1 1 76862 1.30103E-5 38431 0 1.46007E-5
7-45703969-A-G p.Thr338Ala missense ADCY1 1 76742 1.30307E-5 38371 0 1.46175E-5
7-45703970-C-T p.Thr338Met missense ADCY1 2 76714 2.60709E-5 38357 0 NA
7-45703971-G-A p.Thr338Thr synonymous ADCY1 45639 75242 0.606563 37621 14659 0.686875
7-45717464-C-T c.1606-4C>T splice_region ADCY1 6 83274 7.20513E-5 41637 0 4.20175E-5
7-45717490-C-T p.Ser543Leu missense ADCY1 2 83374 2.39883E-5 41687 0 1.59465E-5
7-45717491-G-A p.Ser543Ser synonymous ADCY1 9 83376 1.07945E-4 41688 0 3.98578E-5
7-45717507-C-T p.Arg549Cys missense ADCY1 1 83388 1.19921E-5 41694 0 1.59226E-5
7-45717512-A-G p.Ser550Ser synonymous ADCY1 1 83394 1.19913E-5 41697 0 NA
7-45717522-A-G p.Thr554Ala missense ADCY1 1 83390 1.19918E-5 41695 0 1.19358E-5
7-45717527-C-T p.Asn555Asn synonymous ADCY1 1 83402 1.19901E-5 41701 0 7.95754E-6
7-45717528-G-A p.Val556Ile missense ADCY1 4 83404 4.79593E-5 41702 0 5.96768E-5
7-45717553-G-A p.Arg564His missense ADCY1 2 83406 2.39791E-5 41703 0 3.97662E-6
7-45717555-G-A p.Val565Ile missense ADCY1 7 83402 8.39308E-5 41701 2 8.23818E-6
7-45717557-C-T p.Val565Val synonymous ADCY1 1 83400 1.19904E-5 41700 0 NA
7-45717563-G-A p.Arg567Arg synonymous ADCY1 2 83398 2.39814E-5 41699 0 NA
7-45717570-A-G p.Ser570Gly missense ADCY1 2 83398 2.39814E-5 41699 0 NA
7-45717578-C-T p.Leu572Leu synonymous ADCY1 1 83400 1.19904E-5 41700 0 NA
7-45717589-G-A p.Arg576His missense ADCY1 1 83404 1.19898E-5 41702 0 7.9533E-6
7-45717594-A-G p.Thr578Ala missense ADCY1 3 83400 3.59712E-5 41700 1 4.11828E-5
7-45717619-A-C p.Asn586Thr missense ADCY1 3 83394 3.59738E-5 41697 1 NA
7-45717620-C-T p.Asn586Asn synonymous ADCY1 1 83392 1.19916E-5 41696 0 NA
7-45717622-T-G p.Phe587Cys missense ADCY1 1 83390 1.19918E-5 41695 0 NA
7-45717647-C-T p.Val595Val synonymous ADCY1 1 83388 1.19921E-5 41694 0 1.9914E-5
7-45717648-G-A p.Glu596Lys missense ADCY1 23 83386 2.75826E-4 41693 0 0.00125
7-45717651-C-T p.Arg597Trp missense ADCY1 13 83386 1.55901E-4 41693 0 6.50913E-4
7-45717652-G-A p.Arg597Gln missense ADCY1 11 83376 1.31932E-4 41688 0 4.94364E-5
7-45717767-C-T p.Tyr601Tyr splice_region+synonymous ADCY1 6 83398 7.19442E-5 41699 0 3.97652E-6
7-45717770-C-T p.His602His synonymous ADCY1 1 83402 1.19901E-5 41701 0 5.03525E-4
7-45717778-A-G p.Gln605Arg missense ADCY1 2 83404 2.39797E-5 41702 0 NA
7-45717782-C-T p.Asp606Asp synonymous ADCY1 3 83404 3.59695E-5 41702 0 8.23642E-6
7-45717783-G-C p.Glu607Gln missense ADCY1 1 83406 1.19895E-5 41703 0 NA
7-45717787-A-G p.Tyr608Cys missense ADCY1 1 83406 1.19895E-5 41703 0 1.1929E-5
7-45717793-C-G p.Thr610Ser missense ADCY1 1 83400 1.19904E-5 41700 0 NA
7-45717797-C-T p.Ser611Ser synonymous ADCY1 8 83398 9.59256E-5 41699 0 5.16915E-5
7-45717801-G-A p.Val613Ile missense ADCY1 1 83398 1.19907E-5 41699 0 3.29457E-5
7-45717819-C-A p.Leu619Met missense ADCY1 1 83390 1.19918E-5 41695 0 NA
7-45717830-A-AT p.Gly624fs frameshift ADCY1 2 83378 2.39871E-5 41689 0 NA
7-45717837-C-T p.Leu625Phe missense ADCY1 14 83370 1.67926E-4 41685 0 NA
7-45717851-A-G p.Leu629Leu synonymous ADCY1 2 83362 2.39917E-5 41681 0 NA
7-45719301-C-T c.1899-7C>T splice_region ADCY1 1 83312 1.20031E-5 41656 0 NA
7-45719302-C-T c.1899-6C>T splice_region ADCY1 2 83324 2.40027E-5 41662 0 NA
7-45719308-G-A p.Gln633Gln splice_region+synonymous ADCY1 2 83332 2.40004E-5 41666 0 NA
7-45719310-G-A p.Ser634Asn missense+splice_region ADCY1 1 83334 1.19999E-5 41667 0 3.1841E-5
7-45719310-G-C p.Ser634Thr missense+splice_region ADCY1 1 83334 1.19999E-5 41667 0 NA
7-45719318-G-A p.Val637Ile missense ADCY1 3 83344 3.59954E-5 41672 0 9.55718E-5
7-45719330-C-T p.Leu641Leu synonymous ADCY1 9 83372 1.0795E-4 41686 0 6.76009E-5
7-45719334-T-G p.Val642Gly missense ADCY1 2 83368 2.399E-5 41684 0 3.18431E-5
7-45719355-T-C p.Val649Ala missense ADCY1 3 83370 3.59842E-5 41685 0 8.23805E-6
7-45719358-C-G p.Ala650Gly missense ADCY1 1 83368 1.1995E-5 41684 0 NA
7-45724582-T-C p.Phe663Ser missense ADCY1 1 83182 1.20218E-5 41591 0 2.47101E-5
7-45724584-C-G p.Pro664Ala missense ADCY1 1 83192 1.20204E-5 41596 0 NA
7-45724584-C-T p.Pro664Ser missense ADCY1 2 83192 2.40408E-5 41596 0 4.11834E-5
7-45724616-C-A p.Val674Val synonymous ADCY1 2 83296 2.40108E-5 41648 0 7.95342E-6
7-45724619-G-A p.Leu675Leu synonymous ADCY1 1 83302 1.20045E-5 41651 0 NA
7-45724631-A-G p.Ile679Met missense ADCY1 3 83256 3.60334E-5 41628 0 9.06006E-5
7-45724658-A-G p.Gln688Gln synonymous ADCY1 1 83032 1.20435E-5 41516 0 NA
7-45724665-G-A p.Val691Met missense+splice_region ADCY1 1 82938 1.20572E-5 41469 0 NA
7-45725579-G-A p.Ala698Thr missense ADCY1 9 81636 1.10245E-4 40818 0 5.04032E-4
7-45725582-T-G p.Trp699Gly missense ADCY1 1 81734 1.22348E-5 40867 0 4.01974E-6
7-45725582-T-C p.Trp699Arg missense ADCY1 1 81734 1.22348E-5 40867 0 4.01974E-6
7-45725586-G-A p.Ser700Asn missense ADCY1 2 81772 2.44582E-5 40886 0 NA
7-45725620-G-A p.Ser711Ser synonymous ADCY1 8 82348 9.71487E-5 41174 0 6.25E-4
7-45725639-G-A p.Ala718Thr missense ADCY1 2 82584 2.42178E-5 41292 0 NA
7-45725648-A-G p.Thr721Ala missense ADCY1 52 82688 6.2887E-4 41344 0 4.66403E-4
7-45725659-C-T p.Cys724Cys synonymous ADCY1 3 82956 3.61638E-5 41478 0 3.5838E-5
7-45725662-G-C p.Glu725Asp missense ADCY1 2 83036 2.40859E-5 41518 0 NA
7-45725674-T-C p.His729His synonymous ADCY1 2 83076 2.40743E-5 41538 0 9.56267E-5
7-45725706-C-T p.Pro740Leu missense ADCY1 1 83222 1.20161E-5 41611 0 8.24674E-6
7-45725724-G-A p.Arg746Gln missense ADCY1 1 83298 1.20051E-5 41649 0 8.24579E-6
7-45725725-G-T p.Arg746Arg synonymous ADCY1 2 83300 2.40096E-5 41650 0 3.18613E-5
7-45725728-G-A p.Val747Val synonymous ADCY1 2 83304 2.40085E-5 41652 0 3.18552E-5
7-45725755-C-T p.Leu756Leu synonymous ADCY1 1 83326 1.20011E-5 41663 0 NA
7-45725758-C-T p.Ser757Ser synonymous ADCY1 6 83312 7.20184E-5 41656 0 5.78054E-5
7-45725769-C-T p.Thr761Met missense ADCY1 3 83290 3.60187E-5 41645 0 3.18512E-5
7-45725770-G-A p.Thr761Thr synonymous ADCY1 3 83302 3.60135E-5 41651 0 3.18492E-5
7-45725782-C-T p.Leu765Leu synonymous ADCY1 3 83274 3.60256E-5 41637 0 2.66898E-4
7-45725783-G-C p.Val766Leu missense ADCY1 1 83262 1.20103E-5 41631 0 NA
7-45725783-G-A p.Val766Ile missense ADCY1 1 83262 1.20103E-5 41631 0 3.98368E-6
7-45725788-G-A p.Leu767Leu synonymous ADCY1 1 83250 1.2012E-5 41625 0 3.98492E-5
7-45725797-C-T p.Ser770Ser synonymous ADCY1 1 83174 1.2023E-5 41587 0 2.51294E-5
7-45725798-G-A p.Gly771Arg missense ADCY1 1 83174 1.2023E-5 41587 0 1.19727E-5
7-45725803-C-T p.Tyr772Tyr synonymous ADCY1 5 83130 6.01468E-5 41565 0 5.03525E-4
7-45725808-G-A p.Arg774Lys missense ADCY1 1 83084 1.2036E-5 41542 0 7.99392E-6
7-45725819-G-A c.2327+5G>A splice_region ADCY1 1 82928 1.20587E-5 41464 0 NA
7-45725820-T-A c.2327+6T>A splice_region ADCY1 107 82918 0.00129043 41459 1 0.00356756
7-45726139-C-T c.2328-7C>T splice_region ADCY1 3 82004 3.65836E-5 41002 0 NA
7-45726140-C-A c.2328-6C>A splice_region ADCY1 1 82002 1.21948E-5 41001 0 8.72326E-6
7-45726150-G-A p.Gly778Ser missense ADCY1 1 82028 1.2191E-5 41014 0 1.71777E-5
7-45726151-G-A p.Gly778Asp missense ADCY1 2 82014 2.43861E-5 41007 0 9.56023E-5
7-45726151-G-C p.Gly778Ala missense ADCY1 4 82014 4.87722E-5 41007 1 4.01587E-6
7-45726155-C-T p.Ala779Ala synonymous ADCY1 1 82038 1.21895E-5 41019 0 2.00716E-5
7-45726156-G-A p.Val780Ile missense ADCY1 11 82066 1.34038E-4 41033 0 1.27429E-4
7-45726161-C-T p.Ser781Ser synonymous ADCY1 4 82106 4.87175E-5 41053 0 2.40206E-5
7-45726162-G-A p.Gly782Arg missense ADCY1 2 82120 2.43546E-5 41060 0 8.00058E-6
7-45726165-C-T p.Arg783Cys missense ADCY1 2 82090 2.43635E-5 41045 0 5.03525E-4
7-45726173-C-T p.Tyr785Tyr synonymous ADCY1 2 82130 2.43516E-5 41065 0 4.18235E-5
7-45726179-G-A p.Pro787Pro synonymous ADCY1 1 82274 1.21545E-5 41137 0 NA
7-45726179-G-C p.Pro787Pro synonymous ADCY1 1 82274 1.21545E-5 41137 0 NA
7-45726183-G-A p.Val789Met missense ADCY1 1 82276 1.21542E-5 41138 0 NA
7-45726191-C-G p.Ile791Met missense ADCY1 1 82270 1.21551E-5 41135 0 NA
7-45726197-C-G p.Leu793Leu synonymous ADCY1 4 82282 4.86133E-5 41141 0 6.25E-4
7-45726205-G-A p.Cys796Tyr missense ADCY1 5 82262 6.07814E-5 41131 0 3.31746E-5
7-45726209-G-A p.Ala797Ala synonymous ADCY1 6 82238 7.2959E-5 41119 0 3.31752E-5
7-45726227-G-A p.Arg803Arg synonymous ADCY1 1 82240 1.21595E-5 41120 0 3.1839E-5
7-45726233-G-A p.Val805Val synonymous ADCY1 1 82282 1.21533E-5 41141 0 NA
7-45726245-G-T p.Leu809Leu synonymous ADCY1 1 82266 1.21557E-5 41133 0 NA
7-45726254-C-T p.Asp812Asp synonymous ADCY1 1 82208 1.21643E-5 41104 0 1.19897E-5
7-45726265-C-T p.Ala816Val missense ADCY1 4 82142 4.86962E-5 41071 0 3.18512E-5
7-45726266-C-T p.Ala816Ala synonymous ADCY1 1 82110 1.21788E-5 41055 0 1.26771E-4
7-45726267-G-A p.Ala817Thr missense ADCY1 2 82114 2.43564E-5 41057 0 3.18471E-5
7-45726276-A-T c.2454+4A>T splice_region ADCY1 1 82094 1.21812E-5 41047 0 9.55292E-5
7-45726279-C-T c.2454+7C>T splice_region ADCY1 16 82042 1.95022E-4 41021 0 6.83667E-5
7-45742971-C-G c.2455-4C>G splice_region ADCY1 1 83220 1.20163E-5 41610 0 NA
7-45742986-G-A p.Glu822Glu synonymous ADCY1 1 83282 1.20074E-5 41641 0 NA
7-45742991-A-G p.Glu824Gly missense ADCY1 1 83304 1.20042E-5 41652 0 2.38605E-5
7-45743023-C-T p.Arg835Cys missense ADCY1 1 83318 1.20022E-5 41659 0 NA
7-45743046-G-A p.Pro842Pro synonymous ADCY1 10 83284 1.20071E-4 41642 0 1.27584E-4
7-45743052-C-T p.His844His synonymous ADCY1 3 83286 3.60205E-5 41643 0 6.37714E-5
7-45743067-C-T p.Phe849Phe synonymous ADCY1 1 83246 1.20126E-5 41623 0 3.18776E-5
7-45743072-T-C p.Met851Thr missense ADCY1 1 83254 1.20114E-5 41627 0 NA
7-45743076-C-T p.Ser852Ser synonymous ADCY1 1 83250 1.2012E-5 41625 0 NA
7-45743084-G-A p.Arg855Gln missense ADCY1 2 83222 2.40321E-5 41611 0 3.18817E-5
7-45743206-A-G p.Tyr860Cys missense ADCY1 1 83324 1.20013E-5 41662 0 NA
7-45743210-C-T p.Tyr861Tyr synonymous ADCY1 1 83326 1.20011E-5 41663 0 6.25E-4
7-45743231-C-T p.Gly868Gly synonymous ADCY1 2 83320 2.40038E-5 41660 0 1.5978E-5
7-45743232-G-A p.Val869Ile missense ADCY1 2 83316 2.4005E-5 41658 0 8.36456E-6
7-45743252-C-T p.Pro875Pro synonymous ADCY1 2 83334 2.39998E-5 41667 0 NA
7-45743261-T-C p.Asn878Asn synonymous ADCY1 1 83332 1.20002E-5 41666 0 NA
7-45743273-C-T p.Ile882Ile synonymous ADCY1 3 83332 3.60006E-5 41666 0 8.4151E-6
7-45743282-C-T p.Asp885Asp synonymous ADCY1 1 83342 1.19988E-5 41671 0 8.44366E-5
7-45743311-G-A p.Arg895Gln missense ADCY1 1 83290 1.20062E-5 41645 0 8.65321E-6
7-45743321-C-T p.Asn898Asn synonymous ADCY1 47 83232 5.64687E-4 41616 0 0.00133758
7-45743330-C-T p.Ile901Ile synonymous ADCY1 2 83216 2.40338E-5 41608 0 6.15439E-5
7-45743333-C-T p.Ala902Ala synonymous ADCY1 4 83198 4.80781E-5 41599 0 6.25E-4
7-45743334-G-C p.Asp903His missense ADCY1 1 83192 1.20204E-5 41596 0 NA
7-45743342-C-T p.Asp905Asp synonymous ADCY1 6 83182 7.2131E-5 41591 0 5.03525E-4
7-45744110-A-C c.2719-7A>C splice_region ADCY1 1 83234 1.20143E-5 41617 0 3.1841E-5
7-45744130-A-T p.Asp911Val missense ADCY1 1 83304 1.20042E-5 41652 0 3.97883E-6
7-45744131-C-A p.Asp911Glu missense ADCY1 1 83310 1.20034E-5 41655 0 3.97909E-6
7-45744137-C-T p.Tyr913Tyr synonymous ADCY1 15 83312 1.80046E-4 41656 0 5.03525E-4
7-45744146-A-G p.Ile916Met missense ADCY1 1 83308 1.20036E-5 41654 0 NA
7-45744161-C-T p.Thr921Thr synonymous ADCY1 1 83328 1.20008E-5 41664 0 NA
7-45744176-C-T p.Tyr926Tyr synonymous ADCY1 1 83282 1.20074E-5 41641 0 6.3674E-5
7-45744182-C-T p.Ala928Ala synonymous ADCY1 1 83254 1.20114E-5 41627 0 1.91071E-4
7-45744183-G-A p.Ala929Thr missense ADCY1 1 83244 1.20129E-5 41622 0 3.97738E-6
7-45744192-C-T p.Leu932Leu synonymous ADCY1 1 83196 1.20198E-5 41598 0 NA
7-45744196-C-T p.Ala933Val missense ADCY1 2 83152 2.40523E-5 41576 0 1.19348E-5
7-45744201-A-C p.Thr935Pro missense ADCY1 1 83112 1.2032E-5 41556 0 NA
7-45744205-C-T p.Ser936Leu missense ADCY1 3 83082 3.61089E-5 41541 0 3.30022E-5
7-45744206-G-A p.Ser936Ser synonymous ADCY1 5 83068 6.01917E-5 41534 0 4.95074E-5
7-45744209-G-A p.Gly937Gly synonymous ADCY1 2 83072 2.40755E-5 41536 0 9.55414E-5
7-45744212-C-G p.Thr938Thr synonymous ADCY1 2 83020 2.40906E-5 41510 0 NA
7-45744218-G-A c.2817+3G>A splice_region ADCY1 1 82950 1.20555E-5 41475 0 8.25764E-6
7-45747949-G-A p.Ala940Thr missense+splice_region ADCY1 1261 83282 0.0151413 41641 16 0.0156093
7-45747953-A-G p.Lys941Arg missense ADCY1 6 83334 7.19994E-5 41667 0 7.44885E-5
7-45747954-G-A p.Lys941Lys synonymous ADCY1 1 83340 1.1999E-5 41670 0 NA
7-45747956-A-G p.Lys942Arg missense ADCY1 8 83338 9.59946E-5 41669 0 5.56952E-5
7-45747959-C-T p.Ser943Phe missense ADCY1 1 83344 1.19985E-5 41672 0 3.9781E-6
7-45747968-C-T p.Ser946Phe missense ADCY1 3 83382 3.5979E-5 41691 0 1.65003E-5
7-45747980-C-T p.Thr950Met missense ADCY1 1 83390 1.19918E-5 41695 0 6.59533E-5
7-45747986-C-T p.Ala952Val missense ADCY1 3 83394 3.59738E-5 41697 0 6.59359E-5
7-45748011-C-T p.Asp960Asp synonymous ADCY1 3 83398 3.59721E-5 41699 0 3.18451E-5
7-45748012-G-A p.Val961Ile missense ADCY1 5 83398 5.99535E-5 41699 0 1.91156E-4
7-45748034-A-C p.Gln968Pro missense ADCY1 1 83388 1.19921E-5 41694 0 NA
7-45748044-C-T p.Asn971Asn synonymous ADCY1 1 83380 1.19933E-5 41690 0 4.12344E-5
7-45748058-G-A p.Arg976Gln missense ADCY1 1 83358 1.19964E-5 41679 0 NA
7-45750133-A-G p.Asn980Ser missense ADCY1 2 83262 2.40206E-5 41631 0 3.18654E-5
7-45750143-T-C p.Pro983Pro synonymous ADCY1 1 83266 1.20097E-5 41633 0 NA
7-45750179-G-A p.Gln995Gln synonymous ADCY1 2 83282 2.40148E-5 41641 0 1.98999E-5
7-45750182-C-T p.Tyr996Tyr synonymous ADCY1 6 83276 7.20496E-5 41638 0 8.35808E-5
7-45753287-A-G c.3058-5A>G splice_region ADCY1 2 64466 3.10241E-5 32233 0 9.55414E-5
7-45753315-G-C p.Leu1027Leu synonymous ADCY1 1 64908 1.54064E-5 32454 0 NA
7-45753324-G-A p.Arg1030Arg synonymous ADCY1 11642 64362 0.180883 32181 1065 0.192592
7-45753333-C-T p.Tyr1033Tyr synonymous ADCY1 4 65052 6.14893E-5 32526 0 7.42942E-5
7-45753345-C-T p.Cys1037Cys synonymous ADCY1 1 65090 1.53633E-5 32545 0 3.97709E-6
7-45753401-G-C p.Gly1056Ala missense ADCY1 1 65184 1.53412E-5 32592 0 4.37407E-5
7-45753406-A-G p.Thr1058Ala missense ADCY1 2 65192 3.06786E-5 32596 0 NA
7-45753417-C-T p.Asn1061Asn synonymous ADCY1 2 65212 3.06692E-5 32606 0 1.64856E-5
7-45753418-G-A p.Gly1062Ser missense ADCY1 451 65202 0.00691697 32601 1 0.00684152
7-45753419-G-A p.Gly1062Asp missense ADCY1 3 65202 4.60109E-5 32601 0 NA
7-45753426-A-C p.Gln1064His missense ADCY1 1 65204 1.53365E-5 32602 0 NA
7-45753434-C-T p.Ser1067Phe missense ADCY1 1 65196 1.53384E-5 32598 0 1.15316E-4
7-45753437-T-A p.Leu1068Gln missense ADCY1 1 65194 1.53388E-5 32597 0 NA
7-45753448-C-T p.Arg1072Trp missense ADCY1 2 65186 3.06814E-5 32593 0 1.59057E-5
7-45753448-C-G p.Arg1072Gly missense ADCY1 3 65186 4.60222E-5 32593 0 9.55414E-5
7-45753449-G-A p.Arg1072Gln missense ADCY1 4 65192 6.13572E-5 32596 0 6.36902E-5
7-45753467-G-A p.Gly1078Glu missense ADCY1 1 65160 1.53468E-5 32580 0 3.18573E-5
7-45753485-G-A p.Gly1084Asp missense ADCY1 3 65096 4.60858E-5 32548 0 2.5481E-4
7-45753487-A-G p.Arg1085Gly missense ADCY1 1 65096 1.53619E-5 32548 0 3.18573E-5
7-45753490-C-T p.Arg1086Cys missense ADCY1 1 65074 1.53671E-5 32537 0 4.12977E-5
7-45753494-C-A p.Pro1087His missense ADCY1 1 65056 1.53714E-5 32528 0 NA
7-45753496-C-T p.Pro1088Ser missense ADCY1 1 65052 1.53723E-5 32526 0 9.55597E-5
7-45753498-C-T p.Pro1088Pro synonymous ADCY1 4 65048 6.14931E-5 32524 0 2.47872E-5
7-45753516-C-T p.Gly1094Gly synonymous ADCY1 15 64962 2.30904E-4 32481 0 5.09846E-4
7-45753517-G-A p.Val1095Ile missense ADCY1 1 64952 1.5396E-5 32476 0 5.79317E-5
7-45753528-G-A p.Arg1098Arg synonymous ADCY1 1 64928 1.54017E-5 32464 0 NA
7-45753539-C-T p.Pro1102Leu missense ADCY1 3 64892 4.62307E-5 32446 0 NA
7-45753548-C-T p.Ser1105Phe missense ADCY1 1 64844 1.54216E-5 32422 0 NA
7-45753580-G-A p.Gly1116Arg missense ADCY1 2 64614 3.0953E-5 32307 0 NA
7-45753586-G-A p.Glu1118Lys missense ADCY1 1 64532 1.54962E-5 32266 0 NA