Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-7396369-C-T c.-41C>T 5_prime_UTR_premature_start_codon_gain ADCY2 3 21106 1.4214E-4 10553 0 4.14972E-5
5-7396375-G-T c.-35G>T 5_prime_UTR_premature_start_codon_gain ADCY2 1 24236 4.12609E-5 12118 0 4.11794E-5
5-7396395-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain ADCY2 1 31992 3.12578E-5 15996 0 NA
5-7396413-T-C p.Trp2Arg missense ADCY2 1 40818 2.4499E-5 20409 0 3.8432E-5
5-7396430-G-C p.Arg7Arg synonymous ADCY2 1 46796 2.13693E-5 23398 0 NA
5-7396433-C-T p.Arg8Arg synonymous ADCY2 1 47806 2.09179E-5 23903 0 3.80807E-4
5-7396447-G-C p.Arg13Pro missense ADCY2 1 53936 1.85405E-5 26968 0 6.1364E-6
5-7396452-C-A p.Arg15Ser missense ADCY2 1 55812 1.79173E-5 27906 0 NA
5-7396460-G-A p.Glu17Glu synonymous ADCY2 3 59528 5.03965E-5 29764 0 5.33182E-5
5-7396462-A-G p.Glu18Gly missense ADCY2 1 59838 1.67118E-5 29919 0 5.44235E-6
5-7396465-C-T p.Ala19Val missense ADCY2 2 60410 3.31071E-5 30205 0 NA
5-7396466-G-A p.Ala19Ala synonymous ADCY2 62 60922 0.00101769 30461 0 0.00546982
5-7396478-A-G p.Gly23Gly synonymous ADCY2 5 63252 7.90489E-5 31626 0 4.40768E-4
5-7396481-C-T p.Asp24Asp synonymous ADCY2 5 64344 7.77073E-5 32172 0 2.70893E-4
5-7396482-G-C p.Gly25Arg missense ADCY2 1 64488 1.55068E-5 32244 0 NA
5-7396482-G-A p.Gly25Arg missense ADCY2 2 64488 3.10135E-5 32244 0 2.27661E-5
5-7396485-C-G p.Leu26Val missense ADCY2 1 65186 1.53407E-5 32593 0 NA
5-7396497-C-G p.Arg30Gly missense ADCY2 1 68542 1.45896E-5 34271 0 NA
5-7396499-G-A p.Arg30Arg synonymous ADCY2 1 69028 1.44869E-5 34514 0 6.67913E-5
5-7396536-C-G p.Gln43Glu missense ADCY2 1 73276 1.3647E-5 36638 0 3.3106E-5
5-7396543-C-T p.Pro45Leu missense ADCY2 1 73596 1.35877E-5 36798 0 NA
5-7396550-C-A p.Ile47Ile synonymous ADCY2 13 73948 1.75799E-4 36974 0 2.97599E-4
5-7396574-G-A p.Met55Ile missense ADCY2 1 73996 1.35142E-5 36998 0 NA
5-7396578-T-A p.Ser57Thr missense ADCY2 2 73692 2.714E-5 36846 0 8.69157E-6
5-7396580-C-A p.Ser57Ser synonymous ADCY2 1 73716 1.35656E-5 36858 0 9.19709E-6
5-7396585-T-C p.Leu59Pro missense ADCY2 1 73406 1.36229E-5 36703 0 NA
5-7396587-G-A p.Ala60Thr missense ADCY2 3 73204 4.09814E-5 36602 0 8.33171E-5
5-7396587-G-T p.Ala60Ser missense ADCY2 1 73208 1.36597E-5 36604 0 3.31763E-5
5-7396607-C-T p.Phe66Phe synonymous ADCY2 1 71174 1.40501E-5 35587 0 7.13531E-5
5-7396607-C-CGCG p.Ala67dup conservative_inframe_insertion ADCY2 1 71174 1.40501E-5 35587 0 NA
5-7396609-C-T p.Ala67Val missense ADCY2 1 70558 1.41727E-5 35279 0 NA
5-7396611-C-T p.Leu68Phe missense ADCY2 1 70210 1.4243E-5 35105 0 NA
5-7396613-C-G p.Leu68Leu synonymous ADCY2 1 69780 1.43308E-5 34890 0 3.30841E-5
5-7396614-G-C p.Gly69Arg missense ADCY2 2 69812 2.86484E-5 34906 0 9.58764E-6
5-7414683-C-T c.211-3C>T splice_region ADCY2 53 83128 6.37571E-4 41564 0 0.00375
5-7414697-C-A p.Asp74Glu missense ADCY2 1 83224 1.20158E-5 41612 0 NA
5-7414700-T-G p.His75Gln missense ADCY2 1 83226 1.20155E-5 41613 0 NA
5-7414747-C-T p.Ala91Val missense ADCY2 2 83358 2.39929E-5 41679 0 1.64777E-5
5-7414748-G-T p.Ala91Ala synonymous ADCY2 1 83364 1.19956E-5 41682 0 3.18613E-5
5-7414748-G-A p.Ala91Ala synonymous ADCY2 3 83364 3.59868E-5 41682 0 6.25E-4
5-7414769-C-T p.Ile98Ile synonymous ADCY2 4 83374 4.79766E-5 41687 0 1.19621E-5
5-7414794-C-T p.Arg107Cys missense ADCY2 1 83382 1.1993E-5 41691 0 6.59033E-5
5-7414795-G-A p.Arg107His missense ADCY2 1 83386 1.19924E-5 41693 0 NA
5-7414827-G-T p.Val118Phe missense ADCY2 2 83386 2.39848E-5 41693 0 NA
5-7414842-C-T p.Leu123Leu synonymous ADCY2 1 83374 1.19941E-5 41687 0 NA
5-7414891-G-A c.408+8G>A splice_region ADCY2 1 83076 1.20372E-5 41538 0 3.1839E-5
5-7520847-G-A c.409-4G>A splice_region ADCY2 6 83156 7.21535E-5 41578 0 1.07156E-4
5-7520856-G-A p.Ser138Ser synonymous ADCY2 10 83262 1.20103E-4 41631 0 5.03525E-4
5-7520878-G-A p.Val146Met missense ADCY2 32 83318 3.84071E-4 41659 0 0.00151057
5-7520881-G-T p.Val147Leu missense ADCY2 16828 83062 0.202596 41531 1911 0.185
5-7520886-C-T p.Tyr148Tyr synonymous ADCY2 1 83318 1.20022E-5 41659 0 1.64739E-5
5-7520896-C-T p.Pro152Ser missense ADCY2 1 83326 1.20011E-5 41663 0 NA
5-7520902-A-C p.Asn154His missense ADCY2 1 83324 1.20013E-5 41662 0 NA
5-7520905-A-G p.Met155Val missense ADCY2 1 83326 1.20011E-5 41663 0 8.23669E-6
5-7520906-T-C p.Met155Thr missense ADCY2 3 83322 3.60049E-5 41661 0 6.37146E-5
5-7520909-G-A p.Arg156Gln missense ADCY2 2 83322 2.40033E-5 41661 0 3.18735E-5
5-7520909-G-T p.Arg156Leu missense ADCY2 1 83322 1.20016E-5 41661 0 3.18735E-5
5-7520913-C-T p.Asp157Asp synonymous ADCY2 9 83324 1.08012E-4 41662 0 6.25E-4
5-7520914-G-A p.Ala158Thr missense ADCY2 2 83326 2.40021E-5 41663 0 4.37424E-5
5-7520917-A-G p.Ile159Val missense ADCY2 1 83322 1.20016E-5 41661 0 NA
5-7520923-G-A p.Ala161Thr missense ADCY2 1 83316 1.20025E-5 41658 0 NA
5-7520926-A-G p.Ser162Gly missense ADCY2 2 83320 2.40038E-5 41660 0 NA
5-7520928-C-T p.Ser162Ser synonymous ADCY2 1 83302 1.20045E-5 41651 0 1.64742E-5
5-7520929-G-A p.Val163Ile missense ADCY2 87 83310 0.00104429 41655 0 0.00264567
5-7520934-C-T p.Leu164Leu synonymous ADCY2 2 83302 2.4009E-5 41651 0 1.64734E-5
5-7520949-C-T p.His169His synonymous ADCY2 1 83302 1.20045E-5 41651 0 8.23737E-6
5-7520955-C-T p.Ile171Ile synonymous ADCY2 1 83296 1.20054E-5 41648 0 3.18471E-5
5-7520958-G-T p.Val172Val synonymous ADCY2 1 83296 1.20054E-5 41648 0 NA
5-7520961-T-G p.Leu173Leu synonymous ADCY2 1 83292 1.2006E-5 41646 0 NA
5-7520963-G-C p.Ser174Thr missense ADCY2 2 83290 2.40125E-5 41645 0 3.18431E-5
5-7520964-C-T p.Ser174Ser synonymous ADCY2 2 83294 2.40113E-5 41647 0 3.18471E-5
5-7520965-G-A p.Val175Ile missense ADCY2 12 83284 1.44085E-4 41642 0 6.36943E-5
5-7520966-T-C p.Val175Ala missense ADCY2 1 83288 1.20065E-5 41644 0 NA
5-7520977-G-T p.Ala179Ser missense ADCY2 2 83286 2.40136E-5 41643 0 NA
5-7520980-A-G p.Thr180Ala missense ADCY2 123 83278 0.00147698 41639 0 0.00127478
5-7520984-C-T p.Pro181Leu missense ADCY2 9 83266 1.08087E-4 41633 0 5.03525E-4
5-7520985-G-A p.Pro181Pro synonymous ADCY2 2 83268 2.40188E-5 41634 0 3.18654E-5
5-7520998-C-G p.His186Asp missense ADCY2 2 83212 2.4035E-5 41606 0 0.00111472
5-7520999-A-C p.His186Pro missense ADCY2 1 83208 1.20181E-5 41604 0 6.37186E-5
5-7521020-C-T c.570+8C>T splice_region ADCY2 1 83018 1.20456E-5 41509 0 NA
5-7626270-GTCTCTT-G c.571-9_571-4delTCTCTT splice_region ADCY2 3 82408 3.64042E-5 41204 0 1.22586E-5
5-7626284-T-C p.Leu192Pro missense ADCY2 2 82628 2.42049E-5 41314 0 NA
5-7626315-C-A p.Asn202Lys missense ADCY2 1 82872 1.20668E-5 41436 0 5.04541E-4
5-7626320-C-T p.Ala204Val missense ADCY2 1 82896 1.20633E-5 41448 0 8.24171E-6
5-7626321-G-A p.Ala204Ala synonymous ADCY2 7 82930 8.44085E-5 41465 0 6.37064E-5
5-7626336-G-A p.Lys209Lys synonymous ADCY2 1 82978 1.20514E-5 41489 0 1.64772E-5
5-7626349-C-T p.Leu214Phe missense ADCY2 1 83028 1.20441E-5 41514 0 NA
5-7626351-C-T p.Leu214Leu synonymous ADCY2 3 83036 3.61289E-5 41518 0 4.94348E-5
5-7626375-C-T p.Asp222Asp synonymous ADCY2 1 83072 1.20378E-5 41536 0 3.98064E-6
5-7626396-G-A p.Ser229Ser synonymous ADCY2 3 83060 3.61185E-5 41530 0 1.15445E-4
5-7654143-G-A p.Trp5* stop_gained ADCY2 1 9562 1.04581E-4 4781 0 NA
5-7654145-G-A p.Ala6Thr missense ADCY2 1 9560 1.04603E-4 4780 0 1.93162E-4
5-7654162-G-C p.Leu11Phe missense ADCY2 1 9554 1.04668E-4 4777 0 NA
5-7654180-A-G p.Ser17Ser synonymous ADCY2 1 9558 1.04624E-4 4779 0 3.82214E-4
5-7654194-C-T p.Thr22Ile missense ADCY2 1 9556 1.04646E-4 4778 0 7.78695E-5
5-7654205-G-C p.Gly26Arg missense ADCY2 16 9550 0.00167539 4775 1 0.00512935
5-7654207-C-T p.Gly26Gly synonymous ADCY2 1 9552 1.0469E-4 4776 0 2.23001E-4
5-7654210-A-G p.Ala27Ala synonymous ADCY2 1 9550 1.04712E-4 4775 0 3.73704E-4
5-7654212-T-A p.Val28Asp missense ADCY2 1 9548 1.04734E-4 4774 0 NA
5-7654214-A-G p.Thr29Ala missense ADCY2 15 9544 0.00157167 4772 0 0.00312122
5-7654225-C-T p.Leu32Leu synonymous ADCY2 7 9524 7.34985E-4 4762 0 8.92004E-4
5-7654283-T-C p.Trp52Arg missense ADCY2 3 9162 3.27439E-4 4581 0 9.5039E-5
5-7654312-G-A c.180+3G>A splice_region ADCY2 1 8316 1.2025E-4 4158 0 NA
5-7654314-G-T c.180+5G>T splice_region ADCY2 1 8270 1.20919E-4 4135 0 1.5647E-5
5-7690664-T-C n.190-7T>C splice_region ADCY2 1 68586 1.45802E-5 34293 0 NA
5-7690801-C-T c.721-3C>T splice_region ADCY2 1 82662 1.20975E-5 41331 0 4.6131E-6
5-7690813-C-T p.Leu244Leu synonymous ADCY2 1 82720 1.2089E-5 41360 0 0.0100705
5-7690830-G-A p.Pro249Pro synonymous ADCY2 9 82862 1.08614E-4 41431 0 1.91119E-4
5-7690839-C-T p.Ile252Ile synonymous ADCY2 2 82994 2.40981E-5 41497 0 4.10954E-6
5-7690856-C-T p.Ala258Val missense ADCY2 1 83094 1.20346E-5 41547 0 NA
5-7690857-G-A p.Ala258Ala synonymous ADCY2 15 83106 1.80492E-4 41553 0 1.65512E-4
5-7690869-G-C p.Gln262His missense ADCY2 1 83176 1.20227E-5 41588 0 3.34247E-5
5-7690870-A-G p.Arg263Gly missense ADCY2 1 83170 1.20236E-5 41585 0 NA
5-7690872-G-A p.Arg263Arg synonymous ADCY2 736 83146 0.0088519 41573 20 0.018535
5-7690877-A-G p.Gln265Arg missense ADCY2 1 83182 1.20218E-5 41591 0 NA
5-7690889-C-T p.Ala269Val missense ADCY2 2 83206 2.40367E-5 41603 0 6.66034E-5
5-7690903-A-C p.Asn274His missense ADCY2 1 83252 1.20117E-5 41626 0 NA
5-7690914-C-T p.Asn277Asn synonymous ADCY2 1 83266 1.20097E-5 41633 0 1.63567E-5
5-7690917-C-T p.Phe278Phe synonymous ADCY2 6 83244 7.20773E-5 41622 0 NA
5-7690929-T-C p.Tyr282Tyr synonymous ADCY2 1 83188 1.2021E-5 41594 0 NA
5-7690933-A-C p.Lys284Gln missense ADCY2 1 83166 1.20241E-5 41583 0 NA
5-7690944-A-G p.Thr287Thr synonymous ADCY2 1 83092 1.20349E-5 41546 0 4.42055E-6
5-7690947-C-T p.Asn288Asn synonymous ADCY2 1 83066 1.20386E-5 41533 0 9.00463E-6
5-7690950-G-C p.Val289Val splice_region+synonymous ADCY2 1 82974 1.2052E-5 41487 0 4.56042E-6
5-7690956-C-T c.869+4C>T splice_region ADCY2 1 82880 1.20656E-5 41440 0 3.18451E-5
5-7690957-G-T c.869+5G>T splice_region ADCY2 1 82926 1.20589E-5 41463 0 NA
5-7690958-A-G c.869+6A>G splice_region ADCY2 1 82930 1.20584E-5 41465 0 NA
5-7690959-C-T c.869+7C>T splice_region ADCY2 8 82882 9.65228E-5 41441 0 2.62927E-5
5-7695883-C-T p.Ile296Ile synonymous ADCY2 13 83194 1.56261E-4 41597 0 4.7162E-4
5-7695897-G-A p.Arg301Gln missense ADCY2 3 83234 3.6043E-5 41617 0 1.19891E-5
5-7695915-C-G p.Ser307Cys missense ADCY2 1 83258 1.20109E-5 41629 0 1.19697E-5
5-7695918-C-T p.Pro308Leu missense ADCY2 1 83242 1.20132E-5 41621 0 NA
5-7695919-G-A p.Pro308Pro synonymous ADCY2 2 83242 2.40263E-5 41621 0 3.30093E-5
5-7695925-A-T p.Glu310Asp missense ADCY2 1 83240 1.20135E-5 41620 0 3.98867E-6
5-7695946-G-A p.Glu317Glu synonymous ADCY2 2 83230 2.40298E-5 41615 0 1.19994E-5
5-7695973-A-C p.Ala326Ala synonymous ADCY2 1 83174 1.2023E-5 41587 0 NA
5-7695976-G-A p.Lys327Lys splice_region+synonymous ADCY2 2 83172 2.40466E-5 41586 0 NA
5-7695981-G-A c.981+5G>A splice_region ADCY2 277 83138 0.00333181 41569 2 0.00697808
5-7698353-C-G c.982-7C>G splice_region ADCY2 1 83192 1.20204E-5 41596 0 NA
5-7698368-A-G p.Glu330Glu synonymous ADCY2 1 83270 1.20091E-5 41635 0 NA
5-7698427-C-A p.Ser350Tyr missense ADCY2 1 83370 1.19947E-5 41685 0 NA
5-7698467-G-A p.Leu363Leu synonymous ADCY2 2 83346 2.39964E-5 41673 0 3.29478E-5
5-7698473-G-T p.Met365Ile missense ADCY2 1 83336 1.19996E-5 41668 0 NA
5-7706887-C-T p.Ile380Ile synonymous ADCY2 2 83404 2.39797E-5 41702 0 1.03422E-4
5-7706896-C-T p.Arg383Arg synonymous ADCY2 26 83406 3.11728E-4 41703 1 5.03525E-4
5-7706896-C-G p.Arg383Arg synonymous ADCY2 2 83406 2.39791E-5 41703 0 6.36821E-5
5-7706902-C-T p.Gly385Gly synonymous ADCY2 80 83408 9.59141E-4 41704 0 0.0025
5-7706903-G-A p.Val386Met missense ADCY2 1 83410 1.1989E-5 41705 0 3.97662E-6
5-7706917-T-C p.Asn390Asn synonymous ADCY2 2 83412 2.39774E-5 41706 0 NA
5-7706929-C-T p.Gly394Gly synonymous ADCY2 3 83412 3.5966E-5 41706 0 3.18329E-5
5-7706962-G-A p.Val405Val synonymous ADCY2 3 83378 3.59807E-5 41689 0 NA
5-7706989-C-T p.Asn414Asn synonymous ADCY2 509 83286 0.00611147 41643 6 0.0122914
5-7707022-C-A c.1268+7C>A splice_region ADCY2 143 82932 0.0017243 41466 0 0.005
5-7707826-C-A p.His426Asn missense ADCY2 1 83270 1.20091E-5 41635 0 NA
5-7707850-C-A p.His434Asn missense ADCY2 1 83296 1.20054E-5 41648 0 NA
5-7707861-C-T p.Gly437Gly synonymous ADCY2 49 83304 5.88207E-4 41652 1 0.0025
5-7707862-G-A p.Ala438Thr missense ADCY2 26 83306 3.12102E-4 41653 0 0.0015121
5-7707867-T-C p.Tyr439Tyr synonymous ADCY2 1 83306 1.20039E-5 41653 0 3.18593E-5
5-7707901-C-A p.Pro451Thr missense ADCY2 1 83310 1.20034E-5 41655 0 NA
5-7707904-T-C p.Tyr452His missense ADCY2 2 83310 2.40067E-5 41655 0 NA
5-7707918-C-T p.His456His synonymous ADCY2 1735 83274 0.0208348 41637 104 0.0436958
5-7709330-C-G p.Arg470Gly missense ADCY2 3 82968 3.61585E-5 41484 0 3.18532E-5
5-7709333-C-T p.Arg471Trp missense ADCY2 2 83012 2.40929E-5 41506 0 8.5681E-6
5-7709334-G-A p.Arg471Gln missense ADCY2 4 83026 4.81777E-5 41513 0 6.37471E-5
5-7709343-A-G p.Gln474Arg missense ADCY2 1 83096 1.20343E-5 41548 0 2.00965E-5
5-7709352-T-A p.Phe477Tyr missense ADCY2 1 83186 1.20213E-5 41593 0 1.66822E-5
5-7709371-T-C p.Leu483Leu synonymous ADCY2 1 83230 1.20149E-5 41615 0 3.98518E-6
5-7709377-A-G p.Gly485Gly synonymous ADCY2 1 83216 1.20169E-5 41608 0 NA
5-7709395-G-A p.Ser491Ser synonymous ADCY2 2 83198 2.4039E-5 41599 0 1.1958E-5
5-7709409-G-A p.Arg496Gln missense ADCY2 4 83200 4.80769E-5 41600 0 6.38162E-5
5-7709414-T-C p.Leu498Leu synonymous ADCY2 1 83182 1.20218E-5 41591 0 NA
5-7709422-C-A p.Ser500Ser synonymous ADCY2 3 83140 3.60837E-5 41570 0 NA
5-7709458-C-G p.His512Gln missense ADCY2 1 83084 1.2036E-5 41542 0 NA
5-7709473-C-G p.Thr517Thr synonymous ADCY2 1 82974 1.2052E-5 41487 0 NA
5-7709478-A-T p.Glu519Val missense ADCY2 1 82892 1.20639E-5 41446 0 NA
5-7709499-C-T p.Thr526Met missense+splice_region ADCY2 3 82570 3.63328E-5 41285 0 0.0015121
5-7712962-A-G c.1579-7A>G splice_region ADCY2 1 82770 1.20817E-5 41385 0 8.36316E-6
5-7712975-C-T p.Pro529Ser missense ADCY2 2 82916 2.41208E-5 41458 0 3.99568E-6
5-7712977-C-T p.Pro529Pro synonymous ADCY2 2 82920 2.41196E-5 41460 0 NA
5-7713002-C-T p.Arg538Cys missense ADCY2 1 82916 1.20604E-5 41458 0 8.32598E-6
5-7713003-G-A p.Arg538His missense ADCY2 1 82902 1.20624E-5 41451 0 8.33042E-6
5-7713004-C-A p.Arg538Arg synonymous ADCY2 2 82922 2.41191E-5 41461 0 NA
5-7713012-G-A p.Arg541Lys missense+splice_region ADCY2 2 82896 2.41266E-5 41448 0 NA
5-7717284-A-G p.Lys546Arg missense ADCY2 5 82524 6.05884E-5 41262 0 3.30726E-5
5-7717318-G-A p.Met557Ile missense ADCY2 2 82730 2.4175E-5 41365 0 NA
5-7724658-G-A p.Lys568Lys splice_region+synonymous ADCY2 1 83036 1.2043E-5 41518 0 NA
5-7724682-T-C p.Ile576Ile synonymous ADCY2 4 83038 4.81707E-5 41519 0 6.37146E-5
5-7724713-G-A p.Val587Ile missense ADCY2 4 82764 4.83302E-5 41382 0 6.38855E-5
5-7724723-A-C p.Lys590Thr missense ADCY2 2 82630 2.42043E-5 41315 0 1.38831E-5
5-7724725-G-A p.Glu591Lys missense+splice_region ADCY2 1 82592 1.21077E-5 41296 0 3.18898E-5
5-7724728-G-T c.1773+1G>T splice_donor ADCY2 1 82528 1.21171E-5 41264 0 NA
5-7724730-A-G c.1773+3A>G splice_region ADCY2 1 82466 1.21262E-5 41233 0 NA
5-7724732-GT-G c.1773+6delT splice_region ADCY2 17 82410 2.06286E-4 41205 1 7.3384E-4
5-7727279-C-T p.Tyr592Tyr splice_region+synonymous ADCY2 1 83072 1.20378E-5 41536 0 NA
5-7727280-C-T p.Arg593Trp missense ADCY2 5 83086 6.01786E-5 41543 0 1.59577E-5
5-7727288-G-A p.Thr595Thr synonymous ADCY2 2 83090 2.40703E-5 41545 0 1.19503E-5
5-7727300-G-A p.Ala599Ala synonymous ADCY2 5 83142 6.01381E-5 41571 0 6.36902E-5
5-7727363-C-T p.Leu620Leu synonymous ADCY2 1 83098 1.2034E-5 41549 0 3.30743E-5
5-7727364-G-A p.Val621Met missense ADCY2 4 83090 4.81406E-5 41545 0 6.25E-4
5-7727364-G-C p.Val621Leu missense ADCY2 2 83090 2.40703E-5 41545 0 NA
5-7727367-C-T p.Leu622Leu synonymous ADCY2 1 83084 1.2036E-5 41542 0 NA
5-7727372-A-C p.Pro623Pro splice_region+synonymous ADCY2 1 83066 1.20386E-5 41533 0 8.28693E-6
5-7743775-C-T c.1872-6C>T splice_region ADCY2 2 83326 2.40021E-5 41663 0 5.98224E-5
5-7743776-G-A c.1872-5G>A splice_region ADCY2 2 83328 2.40015E-5 41664 0 3.18674E-5
5-7743783-C-T p.Thr625Met missense+splice_region ADCY2 1 83340 1.1999E-5 41670 0 3.18471E-5
5-7743787-C-T p.Ser626Ser synonymous ADCY2 42437 82786 0.512611 41393 11465 0.48299
5-7743788-G-A p.Val627Ile missense ADCY2 10 83358 1.19964E-4 41679 0 7.41351E-5
5-7743799-C-G p.Ile630Met missense ADCY2 1 83378 1.19936E-5 41689 0 9.55231E-5
5-7743810-C-T p.Ala634Val missense ADCY2 2 83392 2.39831E-5 41696 0 NA
5-7743814-G-A p.Ala635Ala synonymous ADCY2 1 83386 1.19924E-5 41693 0 6.25E-4
5-7743821-T-C p.Leu638Leu synonymous ADCY2 2 83394 2.39825E-5 41697 0 8.23696E-6
5-7743841-C-T p.Phe644Phe synonymous ADCY2 3 83392 3.59747E-5 41696 0 3.18451E-5
5-7743842-G-A p.Val645Ile missense ADCY2 10 83394 1.19913E-4 41697 0 6.36943E-5
5-7743857-C-T p.Gln650* stop_gained ADCY2 1 83394 1.19913E-5 41697 0 3.97763E-6
5-7743869-G-A c.1956+4G>A splice_region ADCY2 416 83360 0.0049904 41680 1 0.00350164
5-7757554-TCTC-T c.1957-7_1957-5delCTC splice_region ADCY2 4 82532 4.8466E-5 41266 0 5.85598E-5
5-7757564-A-G p.Gln653Gln splice_region+synonymous ADCY2 21 82876 2.53391E-4 41438 0 5.82481E-4
5-7757565-T-C p.Cys654Arg missense ADCY2 2 82888 2.41289E-5 41444 0 2.49497E-5
5-7757567-C-T p.Cys654Cys synonymous ADCY2 1 82904 1.20621E-5 41452 0 NA
5-7757568-A-G p.Ser655Gly missense ADCY2 1 82910 1.20613E-5 41455 0 NA
5-7757569-G-A p.Ser655Asn missense ADCY2 1 82922 1.20595E-5 41461 0 3.19264E-5
5-7757576-A-G p.Lys657Lys synonymous ADCY2 4 83020 4.81812E-5 41510 0 1.19594E-5
5-7757588-G-A p.Leu661Leu synonymous ADCY2 1 83138 1.20282E-5 41569 0 NA
5-7757592-A-T p.Met663Leu missense ADCY2 5 83170 6.01178E-5 41585 0 4.13039E-5
5-7757593-T-G p.Met663Arg missense ADCY2 5 83176 6.01135E-5 41588 0 3.97893E-6
5-7757612-G-A p.Ser669Ser synonymous ADCY2 7 83180 8.41548E-5 41590 0 6.37633E-5
5-7757620-T-C p.Ile672Thr missense ADCY2 1 83198 1.20195E-5 41599 0 NA
5-7757624-C-G p.Ala673Ala synonymous ADCY2 1 83196 1.20198E-5 41598 0 NA
5-7757626-A-G p.Asn674Ser missense ADCY2 5 83188 6.01048E-5 41594 0 6.37552E-5
5-7757628-C-T p.Arg675Cys missense ADCY2 20 83218 2.40333E-4 41609 0 0.001875
5-7757629-G-A p.Arg675His missense ADCY2 6 83228 7.20911E-5 41614 0 4.94764E-5
5-7757638-C-T p.Pro678Leu missense ADCY2 2 83264 2.402E-5 41632 0 NA
5-7757647-C-G p.Ser681Cys missense ADCY2 3434 83194 0.041277 41597 94 0.0450545
5-7757649-C-T p.Leu682Phe missense ADCY2 1 83274 1.20085E-5 41637 0 NA
5-7757654-G-A p.Thr683Thr synonymous ADCY2 2 83252 2.40234E-5 41626 0 2.47284E-5
5-7757669-C-T p.Ala688Ala synonymous ADCY2 1 83224 1.20158E-5 41612 0 NA
5-7757678-A-AATC p.Leu691_Met692insIle disruptive_inframe_insertion ADCY2 1 83216 1.20169E-5 41608 0 4.19178E-6
5-7757681-G-GATGGCCGTGTTCAACCTGGTAAGCCCCAGAGC p.Met698fs frameshift ADCY2 32 83184 3.84689E-4 41592 3 0.00164027
5-7757681-GATGGCCGTGTTCAACATGGTAAGTCCCAGAGCACGGCCGTGTTCAACATGGTAAGCCCCAGAGC-G p.Met693_Met698del splice_donor ADCY2 13 83174 1.56299E-4 41587 0 1.69683E-4
5-7757681-G-GATGGCCGTGTTCAACATGGTATGCCCCGGAGCATGGCCGTGTTCAACATGTTAAGCCCCAGAGC c.2094_2094+1insGTATGCCCCGGAGCATGGCCGTGTTCAACATGTTAAGCCCCAGAGCATGGCCGTGTTCAACATG splice_donor ADCY2 1 83202 1.20189E-5 41601 0 NA
5-7757681-G-GATGGACGTGTTCAACATGGTAAGCCCCAGAGC p.Ala694fs frameshift ADCY2 1 83202 1.20189E-5 41601 0 NA
5-7757681-G-A p.Met692Ile missense ADCY2 1 83202 1.20189E-5 41601 0 1.71346E-5
5-7757681-G-GGCCGTGTTCAACATGGTAAGCCCCAGAGC p.Met693fs frameshift ADCY2 1 83202 1.20189E-5 41601 0 NA
5-7757681-G-GATGGCCGTATTCAACATGGTAAGCCCCAGAGC p.Phe699fs frameshift ADCY2 1 83202 1.20189E-5 41601 0 NA
5-7757683-TGGCCGTGTTCAACATGGTAAGTCCCAGAGCAC-T p.Met693fs frameshift ADCY2 227 83148 0.00273007 41574 5 0.0083459
5-7757683-T-TGGCCGTGTTCAACATGGTAAGTCCCAGAGCAC p.Ile690fs frameshift ADCY2 1 83226 1.20155E-5 41613 0 4.03184E-6
5-7757684-G-T p.Met693Ile missense ADCY2 1 83218 1.20166E-5 41609 0 8.06322E-6
5-7757685-G-T p.Ala694Ser missense ADCY2 2 83196 2.40396E-5 41598 0 8.06289E-6
5-7757685-G-A p.Ala694Thr missense ADCY2 1 83192 1.20204E-5 41596 0 NA
5-7757686-C-T p.Ala694Val missense ADCY2 4 83182 4.80873E-5 41591 0 8.06341E-6
5-7757686-C-A p.Ala694Asp missense ADCY2 2 83186 2.40425E-5 41593 0 NA
5-7757687-C-A p.Ala694Ala synonymous ADCY2 2 83186 2.40425E-5 41593 0 8.31228E-6
5-7757687-C-T p.Ala694Ala synonymous ADCY2 3 83184 3.60646E-5 41592 0 6.5445E-4
5-7757688-G-A p.Val695Met missense ADCY2 7 83186 8.41488E-5 41593 1 7.25906E-5
5-7757688-G-T p.Val695Leu missense ADCY2 6 83186 7.21275E-5 41593 0 1.61312E-5
5-7757690-G-T p.Val695Val synonymous ADCY2 2 83186 2.40425E-5 41593 0 8.06751E-6
5-7757690-G-A p.Val695Val synonymous ADCY2 1 83194 1.20201E-5 41597 0 NA
5-7757691-T-C p.Phe696Leu missense ADCY2 1 83184 1.20215E-5 41592 0 1.61355E-5
5-7757692-T-G p.Phe696Cys missense ADCY2 1 83182 1.20218E-5 41591 0 NA
5-7757694-A-C p.Asn697His missense ADCY2 1 83168 1.20239E-5 41584 0 NA
5-7757695-A-C p.Asn697Thr missense ADCY2 2 83156 2.40512E-5 41578 1 4.03678E-6
5-7757695-A-G p.Asn697Ser missense ADCY2 1 83154 1.20259E-5 41577 0 NA
5-7757695-A-T p.Asn697Ile missense ADCY2 2 83156 2.40512E-5 41578 1 4.03678E-6
5-7757696-C-A p.Asn697Lys missense ADCY2 1 83160 1.2025E-5 41580 0 NA
5-7757697-A-C p.Met698Leu missense+splice_region ADCY2 26 83142 3.12718E-4 41571 2 0.0040282
5-7757697-A-G p.Met698Val missense+splice_region ADCY2 2 83150 2.40529E-5 41575 1 1.21196E-5
5-7757699-G-T p.Met698Ile missense+splice_region ADCY2 8 83124 9.62418E-5 41562 2 3.62862E-5
5-7757699-G-A p.Met698Ile missense+splice_region ADCY2 3 83138 3.60846E-5 41569 1 8.3282E-6
5-7757700-GT-G c.2094+2delT splice_donor ADCY2 1 83124 1.20302E-5 41562 0 NA
5-7757700-G-T c.2094+1G>T splice_donor ADCY2 3 83096 3.61028E-5 41548 1 8.07754E-6
5-7757700-G-C c.2094+1G>C splice_donor ADCY2 1 83126 1.20299E-5 41563 0 NA
5-7757701-T-C c.2094+2T>C splice_donor ADCY2 3 83100 3.61011E-5 41550 1 NA
5-7757703-A-G c.2094+4A>G splice_region ADCY2 3 83120 3.60924E-5 41560 1 4.03991E-6
5-7757703-A-T c.2094+4A>T splice_region ADCY2 1 83120 1.20308E-5 41560 0 NA
5-7757704-G-GCCCCAGAGCA c.2094+5_2094+6insCCCCAGAGCA splice_region ADCY2 8079 77706 0.103969 38853 2805 0.226117
5-7757704-G-GCCCCAGAGCATGGCCGTGT c.2094+5_2094+6insCCCCAGAGCATGGCCGTGT splice_region ADCY2 2 83096 2.40685E-5 41548 1 NA
5-7757704-G-T c.2094+5G>T splice_region ADCY2 15 83080 1.80549E-4 41540 4 2.83068E-5
5-7757704-GTCC-G c.2094+6_2094+8delTCC splice_region ADCY2 1 83096 1.20343E-5 41548 0 NA
5-7757704-G-C c.2094+5G>C splice_region ADCY2 1 83094 1.20346E-5 41547 0 NA
5-7757705-T-C c.2094+6T>C splice_region ADCY2 19178 79810 0.240296 39905 2616 0.448495
5-7757705-T-TGGCCGTGTTCAACATGGTAAGCCCCAGAGCATGGCCGTGTTCAACATGGTAAGC c.2094+6_2094+7insGGCCGTGTTCAACATGGTAAGCCCCAGAGCATGGCCGTGTTCAACATGGTAAGC splice_region ADCY2 22 83082 2.64799E-4 41541 10 3.46476E-5
5-7757705-T-TGGCCGTGTTCAACATGGTAAGC c.2094+6_2094+7insGGCCGTGTTCAACATGGTAAGC splice_region ADCY2 8299 78432 0.105811 39216 2835 0.244543
5-7757705-T-A c.2094+6T>A splice_region ADCY2 7 83086 8.42501E-5 41543 1 NA
5-7757705-T-TGTCCGTGTTCAACATGGTAAGC c.2094+6_2094+7insGTCCGTGTTCAACATGGTAAGC splice_region ADCY2 2 83088 2.40709E-5 41544 1 NA
5-7757705-T-G c.2094+6T>G splice_region ADCY2 2 83088 2.40709E-5 41544 1 NA
5-7757705-T-TGGCCGTGTTCAACATGGTAATC c.2094+6_2094+7insGGCCGTGTTCAACATGGTAATC splice_region ADCY2 1 83088 1.20354E-5 41544 0 NA
5-7757705-T-TGGCCATGTTCAACATGGTAAGC c.2094+6_2094+7insGGCCATGTTCAACATGGTAAGC splice_region ADCY2 2 83088 2.40709E-5 41544 1 NA
5-7757705-T-TGGCCGTGTTCAACATGGTACAGC c.2094+6_2094+7insGGCCGTGTTCAACATGGTACAGC splice_region ADCY2 2 83088 2.40709E-5 41544 1 NA
5-7757705-T-TGGCAGTGTTCAACATGGTAAGC c.2094+6_2094+7insGGCAGTGTTCAACATGGTAAGC splice_region ADCY2 2 83088 2.40709E-5 41544 1 NA
5-7757705-T-TAGCATGGCCGTGTTCAACATGGTAAGC c.2094+6_2094+7insAGCATGGCCGTGTTCAACATGGTAAGC splice_region ADCY2 1 83088 1.20354E-5 41544 0 NA
5-7757706-C-CAACATGGTAAG c.2094+7_2094+8insAACATGGTAAG splice_region ADCY2 2 83088 2.40709E-5 41544 1 NA
5-7757707-C-A c.2094+8C>A splice_region ADCY2 1 83078 1.20369E-5 41539 0 NA
5-7766796-G-T c.2095-4G>T splice_region ADCY2 1 83318 1.20022E-5 41659 0 NA
5-7766807-T-C p.Leu701Pro missense ADCY2 1 83340 1.1999E-5 41670 0 NA
5-7766817-A-G p.Ser704Ser synonymous ADCY2 1 83348 1.19979E-5 41674 0 2.01142E-5
5-7766833-C-G p.Pro710Ala missense ADCY2 2 83362 2.39917E-5 41681 0 6.3674E-5
5-7766834-C-T p.Pro710Leu missense ADCY2 1 83364 1.19956E-5 41682 0 NA
5-7766836-A-G p.Thr711Ala missense ADCY2 36 83364 4.31841E-4 41682 0 0.00105062
5-7766846-C-G p.Thr714Arg missense ADCY2 1 83376 1.19939E-5 41688 0 4.01755E-6
5-7766854-A-G p.Thr717Ala missense ADCY2 3 83374 3.59824E-5 41687 0 8.23669E-6
5-7766858-G-A p.Ser718Asn missense ADCY2 1 83372 1.19944E-5 41686 0 3.18431E-5
5-7766859-C-G p.Ser718Arg missense ADCY2 1 83372 1.19944E-5 41686 0 NA
5-7766864-C-T p.Ser720Leu missense ADCY2 18 83366 2.15915E-4 41683 0 2.55337E-4
5-7766875-A-C p.Asn724His missense ADCY2 1 83364 1.19956E-5 41682 0 8.2371E-6
5-7766880-G-A p.Gln725Gln synonymous ADCY2 2 83368 2.399E-5 41684 0 NA
5-7766884-G-A p.Ala727Thr missense ADCY2 1 83362 1.19959E-5 41681 0 NA
5-7766885-C-T p.Ala727Val missense ADCY2 3 83362 3.59876E-5 41681 0 2.47109E-5
5-7766885-C-A p.Ala727Glu missense ADCY2 1 83362 1.19959E-5 41681 0 NA
5-7766886-G-A p.Ala727Ala synonymous ADCY2 1 83360 1.19962E-5 41680 0 8.2375E-6
5-7766894-G-A p.Arg730His missense ADCY2 19 83368 2.27905E-4 41684 0 9.66254E-4
5-7766897-C-T p.Ala731Val missense ADCY2 10 83368 1.1995E-4 41684 0 3.26075E-5
5-7766898-G-A p.Ala731Ala synonymous ADCY2 1 83368 1.1995E-5 41684 0 3.2956E-5
5-7766905-T-G p.Leu734Val missense ADCY2 1 83366 1.19953E-5 41683 0 1.63272E-5
5-7766907-A-G p.Leu734Leu synonymous ADCY2 1 83364 1.19956E-5 41682 0 8.24144E-6
5-7766913-C-T p.Phe736Phe synonymous ADCY2 2 83358 2.39929E-5 41679 0 4.0392E-6
5-7766915-T-C p.Leu737Pro missense ADCY2 1 83348 1.19979E-5 41674 0 NA
5-7773054-T-C p.Tyr742His missense ADCY2 1 83348 1.19979E-5 41674 0 7.9614E-6
5-7773086-C-T p.Ser752Ser synonymous ADCY2 2 83366 2.39906E-5 41683 0 3.18634E-5
5-7773086-C-G p.Ser752Ser synonymous ADCY2 2 83366 2.39906E-5 41683 0 3.97712E-6
5-7773096-C-T p.Arg756Trp missense ADCY2 1 83358 1.19964E-5 41679 0 NA
5-7773101-A-G p.Val757Val synonymous ADCY2 4 83380 4.79731E-5 41690 0 0.00100705
5-7773119-G-A p.Met763Ile missense ADCY2 1 83362 1.19959E-5 41681 0 NA
5-7773138-T-C p.Leu770Leu synonymous ADCY2 201 83312 0.00241262 41656 2 0.00503121
5-7773145-G-A p.Gly772Asp missense ADCY2 1 83316 1.20025E-5 41658 0 NA
5-7773152-C-T p.Asn774Asn synonymous ADCY2 1 83310 1.20034E-5 41655 0 NA
5-7773155-C-T p.Thr775Thr synonymous ADCY2 1 83312 1.20031E-5 41656 0 3.97776E-6
5-7773164-C-G p.Leu778Leu synonymous ADCY2 92 83294 0.00110452 41647 0 0.00191119
5-7773173-C-T p.His781His synonymous ADCY2 5 83278 6.00399E-5 41639 0 5.03525E-4
5-7773180-G-A p.Val784Ile missense ADCY2 4 83258 4.80434E-5 41629 0 1.9913E-4
5-7773188-C-T p.Gly786Gly synonymous ADCY2 3 83222 3.60482E-5 41611 0 5.03525E-4
5-7773189-G-A p.Asp787Asn missense ADCY2 8 83214 9.61377E-5 41607 0 1.27429E-4
5-7773194-C-T p.Tyr788Tyr synonymous ADCY2 2 83226 2.4031E-5 41613 0 3.98492E-6
5-7773202-T-A p.Val791Asp missense ADCY2 10 83182 1.20218E-4 41591 0 0.00130573
5-7773217-G-A c.2384+3G>A splice_region ADCY2 1 83084 1.2036E-5 41542 0 1.19845E-5
5-7782381-G-T n.95+1G>T splice_donor ADCY2 38 42542 8.93235E-4 21271 0 4.45888E-4
5-7784478-A-G p.Arg795Arg splice_region+synonymous ADCY2 2 83204 2.40373E-5 41602 0 4.12126E-5
5-7784499-G-A p.Leu802Leu synonymous ADCY2 2 83216 2.40338E-5 41608 0 NA
5-7784523-C-A p.Leu810Leu synonymous ADCY2 1 83136 1.20285E-5 41568 0 NA
5-7784541-A-G p.Thr816Thr synonymous ADCY2 1 83008 1.2047E-5 41504 0 4.38188E-5
5-7784548-G-GCA p.Val819fs frameshift ADCY2 1 82906 1.20619E-5 41453 0 NA
5-7789749-T-A c.2470-6T>A splice_region ADCY2 1 82826 1.20735E-5 41413 0 3.99492E-6
5-7789799-C-CA p.Glu841fs frameshift ADCY2 1 83284 1.20071E-5 41642 0 NA
5-7789810-G-A p.Arg842Gln missense ADCY2 1 83286 1.20068E-5 41643 0 NA
5-7789834-A-G p.Asn850Ser missense ADCY2 1 83188 1.2021E-5 41594 0 NA
5-7789843-G-A p.Arg853His missense ADCY2 3 83118 3.60933E-5 41559 0 3.98451E-6
5-7789845-G-A p.Val854Met missense ADCY2 2 83110 2.40645E-5 41555 0 NA
5-7789847-G-A p.Ala65Thr missense ADCY2 1 83080 1.20366E-5 41540 0 3.98451E-6
5-7789859-C-T p.Arg69Cys missense ADCY2 17 82850 2.0519E-4 41425 0 3.51505E-4
5-7789868-C-T p.Arg72Cys missense ADCY2 3 82322 3.64423E-5 41161 0 3.34633E-5
5-7789869-G-A p.Ala862Thr missense ADCY2 3 82162 3.65132E-5 41081 0 6.40287E-5
5-7789870-C-T p.Ala862Val missense ADCY2 1 82066 1.21853E-5 41033 0 6.70882E-5
5-7789871-G-A p.Ala73Thr missense ADCY2 34 81940 4.14938E-4 40970 0 9.61046E-5
5-7789874-C-T p.Arg74Cys missense ADCY2 29 81846 3.54324E-4 40923 1 0.00101317
5-7789900-G-C p.Ser872Thr missense ADCY2 1 79106 1.26413E-5 39553 0 NA
5-7789910-T-C p.Asn875Asn synonymous ADCY2 1 77916 1.28343E-5 38958 0 9.5659E-6
5-7802344-A-G p.Gln881Arg missense ADCY2 1 83132 1.20291E-5 41566 0 NA
5-7802352-G-C p.Asp884His missense ADCY2 1 83154 1.20259E-5 41577 0 NA
5-7802358-G-A p.Val886Ile missense ADCY2 1 83180 1.20221E-5 41590 0 3.1837E-5
5-7802363-C-T p.Cys887Cys synonymous ADCY2 21539 82822 0.260064 41411 2999 0.286351
5-7802366-C-T p.Val888Val synonymous ADCY2 1 83196 1.20198E-5 41598 0 NA
5-7802369-G-A p.Met889Ile missense ADCY2 1 83206 1.20184E-5 41603 0 NA
5-7802384-G-A p.Pro894Pro synonymous ADCY2 1 83186 1.20213E-5 41593 0 4.12235E-5
5-7802405-A-G p.Thr901Thr synonymous ADCY2 2 83242 2.40263E-5 41621 0 3.97795E-6
5-7802411-C-T p.Ser903Ser synonymous ADCY2 1 83240 1.20135E-5 41620 0 1.6491E-5
5-7802414-C-T p.Asp904Asp synonymous ADCY2 634 83232 0.00761726 41616 8 0.0151235
5-7802415-G-A p.Val905Met missense ADCY2 2 83248 2.40246E-5 41624 0 1.64916E-5
5-7802415-G-C p.Val905Leu missense ADCY2 1 83248 1.20123E-5 41624 0 NA
5-7802453-C-T p.Asn917Asn synonymous ADCY2 5 83228 6.00759E-5 41614 0 2.38739E-5
5-7802453-C-A p.Asn917Lys missense ADCY2 1 83228 1.20152E-5 41614 0 NA
5-7802462-C-T p.Ile920Ile synonymous ADCY2 8 83210 9.61423E-5 41605 0 1.32672E-4
5-7802468-C-T p.Asp922Asp synonymous ADCY2 71 83196 8.53406E-4 41598 2 0.00856855
5-7802481-G-C c.2775+4G>C splice_region ADCY2 2 83162 2.40494E-5 41581 0 NA
5-7804706-C-G p.Ser928Ser synonymous ADCY2 770 83250 0.00924925 41625 8 0.0110775
5-7804709-G-A p.Lys929Lys synonymous ADCY2 1 83282 1.20074E-5 41641 0 NA
5-7804715-A-G p.Lys931Lys synonymous ADCY2 24 83290 2.8815E-4 41645 0 2.34652E-4
5-7804726-T-C p.Val935Ala missense ADCY2 1 83300 1.20048E-5 41650 0 8.24511E-6
5-7804778-C-T p.Ser952Ser synonymous ADCY2 4 83288 4.80261E-5 41644 0 3.97741E-5
5-7804779-G-A p.Ala953Thr missense ADCY2 3 83282 3.60222E-5 41641 0 3.2987E-5
5-7804792-A-T p.Gln957Leu missense ADCY2 1 83276 1.20083E-5 41638 0 NA
5-7804812-C-T c.2883+7C>T splice_region ADCY2 49 83108 5.89594E-4 41554 1 0.00143321
5-7804813-G-A c.2883+8G>A splice_region ADCY2 1 83048 1.20412E-5 41524 0 5.81995E-5
5-7804813-G-C c.2883+8G>C splice_region ADCY2 1 83048 1.20412E-5 41524 0 8.31421E-6
5-7816984-C-T p.Pro963Pro synonymous ADCY2 5 83366 5.99765E-5 41683 0 4.12079E-5
5-7816993-G-A p.Gln966Gln synonymous ADCY2 1 83378 1.19936E-5 41689 0 1.6478E-5
5-7816997-A-G p.Met968Val missense ADCY2 11 83388 1.31913E-4 41694 0 1.40058E-4
5-7817011-C-G p.Thr972Thr synonymous ADCY2 5 83394 5.99564E-5 41697 0 NA
5-7817013-T-A p.Met973Lys missense ADCY2 1 83394 1.19913E-5 41697 0 3.9763E-6
5-7817025-C-G p.Ala977Gly missense ADCY2 2 83394 2.39825E-5 41697 0 NA
5-7817032-C-T p.Ala979Ala synonymous ADCY2 3 83396 3.59729E-5 41698 0 9.56145E-5
5-7817035-G-T p.Leu980Leu synonymous ADCY2 1 83396 1.1991E-5 41698 0 3.9763E-6
5-7817036-G-A p.Val981Ile missense ADCY2 50 83398 5.99535E-4 41699 0 0.00127494
5-7817049-A-T p.Asp985Val missense ADCY2 1 83394 1.19913E-5 41697 0 NA
5-7817074-C-T p.Asn993Asn synonymous ADCY2 2 83392 2.39831E-5 41696 0 NA
5-7817075-G-A p.Asp994Asn missense ADCY2 1 83394 1.19913E-5 41697 0 8.24851E-6
5-7817087-C-T p.Arg998* stop_gained ADCY2 1 83388 1.19921E-5 41694 0 NA
5-7817088-G-A p.Arg998Gln missense ADCY2 1 83376 1.19939E-5 41688 0 8.28954E-6
5-7817097-C-T c.2998+4C>T splice_region ADCY2 4 83368 4.798E-5 41684 0 NA
5-7817100-T-G c.2998+7T>G splice_region ADCY2 1 83360 1.19962E-5 41680 0 NA
5-7820699-T-C p.Ile1007Thr missense ADCY2 2 83390 2.39837E-5 41695 0 NA
5-7820709-G-T p.Val1010Val synonymous ADCY2 3 83388 3.59764E-5 41694 0 6.36943E-5
5-7820730-A-G p.Gln1017Gln synonymous ADCY2 2 83384 2.39854E-5 41692 0 1.19296E-5
5-7820781-C-T p.Thr1034Thr synonymous ADCY2 1 83346 1.19982E-5 41673 0 3.29837E-5
5-7820782-G-A p.Gly1035Arg missense ADCY2 1 83344 1.19985E-5 41672 0 3.9782E-6
5-7820804-T-TA c.3123+2_3123+3insA splice_region ADCY2 1 83320 1.20019E-5 41660 0 NA
5-7826824-C-G c.3124-8C>G splice_region ADCY2 2 83226 2.4031E-5 41613 0 2.54919E-4
5-7826837-C-A p.Thr1043Thr synonymous ADCY2 2 83256 2.40223E-5 41628 0 NA
5-7826837-C-T p.Thr1043Thr synonymous ADCY2 1 83256 1.20111E-5 41628 0 4.125E-5
5-7826838-G-A p.Glu1044Lys missense ADCY2 2 83264 2.402E-5 41632 0 3.18715E-5
5-7826840-G-A p.Glu1044Glu synonymous ADCY2 2 83272 2.40177E-5 41636 0 0.00100705
5-7826843-G-A p.Glu1045Glu synonymous ADCY2 2 83266 2.40194E-5 41633 0 1.19472E-5
5-7826853-G-A p.Val1049Ile missense ADCY2 904 83276 0.0108555 41638 14 0.0275
5-7826875-C-T p.Thr1056Met missense ADCY2 2 83320 2.40038E-5 41660 0 5.03525E-4
5-7826876-G-A p.Thr1056Thr synonymous ADCY2 1 83322 1.20016E-5 41661 0 3.18573E-5
5-7826900-C-T p.Asn1064Asn synonymous ADCY2 4 83318 4.80088E-5 41659 0 3.3E-5
5-7826915-G-T p.Gly1069Gly synonymous ADCY2 1 83324 1.20013E-5 41662 0 3.18532E-5
5-7826927-G-A p.Thr1073Thr synonymous ADCY2 4 83330 4.80019E-5 41665 0 1.19368E-5
5-7826972-C-T p.Asn1088Asn synonymous ADCY2 2 83280 2.40154E-5 41640 0 9.55231E-5
5-7826973-G-C p.Val1089Leu missense ADCY2 2 83282 2.40148E-5 41641 0 6.36821E-5