Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-49159979-T-C n.4756A>G splice_region ADCY6 1 41916 2.38572E-5 20958 0 NA
12-49162391-C-T p.Gly1164Arg missense ADCY6 1 83046 1.20415E-5 41523 0 NA
12-49162436-C-T p.Val1149Ile missense ADCY6 7 83004 8.43333E-5 41502 0 6.25E-4
12-49162439-C-G p.Val1148Leu missense ADCY6 28 83006 3.37325E-4 41503 0 4.14303E-4
12-49162444-C-T p.Arg1146Gln missense ADCY6 3 82986 3.61507E-5 41493 0 3.18796E-5
12-49162447-C-T p.Cys1145Tyr missense ADCY6 3 82986 3.61507E-5 41493 0 5.17887E-5
12-49162479-C-A p.Gln1134His missense ADCY6 2 82792 2.41569E-5 41396 0 NA
12-49162482-G-A p.Tyr1133Tyr synonymous ADCY6 1 82758 1.20834E-5 41379 0 3.30077E-5
12-49162485-C-T p.Leu1132Leu synonymous ADCY6 1 82736 1.20866E-5 41368 0 6.37227E-5
12-49162491-C-T p.Thr1130Thr synonymous ADCY6 1 82586 1.21086E-5 41293 0 6.37471E-5
12-49162492-G-A p.Thr1130Met missense ADCY6 2 82564 2.42236E-5 41282 0 8.26323E-6
12-49162502-G-C c.3382-3C>G splice_region ADCY6 2 82388 2.42754E-5 41194 0 6.37755E-5
12-49162505-G-A c.3382-6C>T splice_region ADCY6 2 82360 2.42836E-5 41180 0 3.31384E-5
12-49162738-C-T p.Gly1121Gly synonymous ADCY6 3 82414 3.64016E-5 41207 0 1.6619E-5
12-49162741-C-T p.Thr1120Thr synonymous ADCY6 1 82482 1.21239E-5 41241 0 7.19407E-5
12-49162756-A-C p.Ser1115Arg missense ADCY6 2 82846 2.41412E-5 41423 0 NA
12-49162774-G-A p.Asn1109Asn synonymous ADCY6 1 83032 1.20435E-5 41516 0 NA
12-49162783-G-C p.Ile1106Met missense ADCY6 1 83012 1.20465E-5 41506 0 NA
12-49162790-T-G p.Tyr1104Ser missense ADCY6 1 83006 1.20473E-5 41503 0 3.98321E-6
12-49162802-C-T p.Arg1100Gln missense ADCY6 3 82846 3.62118E-5 41423 0 3.98715E-5
12-49162804-A-G p.Ala1099Ala synonymous ADCY6 1 82782 1.20799E-5 41391 0 3.98781E-6
12-49162810-G-A p.Ile1097Ile synonymous ADCY6 509 82832 0.00614497 41416 10 0.0131856
12-49162816-A-C p.Gly1095Gly synonymous ADCY6 1 82552 1.21136E-5 41276 0 0.060423
12-49162822-C-T p.Val1093Val synonymous ADCY6 1 83028 1.20441E-5 41514 0 8.34683E-6
12-49162825-G-A p.Val1092Val synonymous ADCY6 2 83002 2.40958E-5 41501 0 6.37674E-5
12-49164546-T-C c.3256+3A>G splice_region ADCY6 1 83192 1.20204E-5 41596 0 NA
12-49164551-A-G p.Ile1085Thr missense+splice_region ADCY6 2 83234 2.40286E-5 41617 0 NA
12-49164567-T-A p.Asn1080Tyr missense ADCY6 1 83302 1.20045E-5 41651 0 3.18471E-5
12-49164606-T-C p.Met1067Val missense ADCY6 1 83322 1.20016E-5 41661 0 3.97643E-6
12-49164611-C-T p.Arg1065Gln missense ADCY6 1 83308 1.20036E-5 41654 0 6.25E-4
12-49164619-G-A p.Tyr1062Tyr synonymous ADCY6 6 83302 7.20271E-5 41651 0 5.16968E-5
12-49164627-C-G p.Ala1060Pro missense ADCY6 1 83286 1.20068E-5 41643 0 NA
12-49164636-T-C p.Thr1057Ala missense ADCY6 1 83282 1.20074E-5 41641 0 3.97674E-6
12-49164644-G-A p.Ser1054Phe missense ADCY6 1 83270 1.20091E-5 41635 0 1.27332E-4
12-49164648-G-A p.Arg1053Cys missense ADCY6 2 83230 2.40298E-5 41615 0 9.55292E-5
12-49164652-C-T p.Val1051Val synonymous ADCY6 1 83210 1.20178E-5 41605 0 7.95406E-6
12-49164660-C-T p.Asp1049Asn missense ADCY6 1 83174 1.2023E-5 41587 0 8.24375E-6
12-49164661-G-A p.Tyr1048Tyr synonymous ADCY6 1 83162 1.20247E-5 41581 0 3.29766E-5
12-49164663-A-G p.Tyr1048His missense ADCY6 1 83160 1.2025E-5 41580 0 NA
12-49164671-G-A p.Ala1045Val missense ADCY6 1 83108 1.20325E-5 41554 0 NA
12-49164672-C-T p.Ala1045Thr missense ADCY6 1 83098 1.2034E-5 41549 0 3.18471E-5
12-49164673-G-A p.Asn1044Asn synonymous ADCY6 1 83078 1.20369E-5 41539 0 7.95634E-6
12-49164682-T-C p.Ser1041Ser synonymous ADCY6 2 83022 2.409E-5 41511 0 NA
12-49164684-A-C p.Ser1041Ala missense ADCY6 3 83004 3.61428E-5 41502 0 3.1841E-5
12-49164697-G-C p.Thr1036Thr synonymous ADCY6 2 82792 2.41569E-5 41396 0 8.26173E-6
12-49164698-G-A p.Thr1036Ile missense ADCY6 2 82770 2.41633E-5 41385 0 6.25E-4
12-49164731-C-T p.Arg1025Gln missense ADCY6 3 80686 3.71812E-5 40343 0 3.18512E-5
12-49164732-G-A p.Arg1025Trp missense ADCY6 2 80552 2.48287E-5 40276 0 2.80148E-5
12-49164738-G-A p.Arg1023Trp missense ADCY6 3 79484 3.77434E-5 39742 0 1.68614E-5
12-49164741-C-T p.Glu1022Lys missense ADCY6 1 79222 1.26228E-5 39611 0 3.38089E-5
12-49165508-G-A p.Ile1012Ile synonymous ADCY6 1 82804 1.20767E-5 41402 0 1.19332E-5
12-49165526-C-T n.576G>A splice_region ADCY6 2 82956 2.41092E-5 41478 0 1.19313E-5
12-49165538-G-C p.Val1002Val synonymous ADCY6 4 83016 4.81835E-5 41508 0 8.23778E-6
12-49165548-T-C p.Asn999Ser missense ADCY6 5 83070 6.01902E-5 41535 0 1.07091E-4
12-49165566-A-C p.Val993Gly missense ADCY6 1 83112 1.2032E-5 41556 0 NA
12-49165601-C-T p.Met981Ile missense ADCY6 4 83146 4.81081E-5 41573 0 7.95336E-6
12-49165606-C-G p.Val980Leu missense ADCY6 1 83182 1.20218E-5 41591 0 NA
12-49165615-A-T p.Cys977Ser missense ADCY6 1 83194 1.20201E-5 41597 0 3.97636E-6
12-49165622-C-T p.Ser974Ser synonymous ADCY6 1 83214 1.20172E-5 41607 0 8.23764E-6
12-49165632-T-A p.Tyr971Phe missense ADCY6 1 83234 1.20143E-5 41617 0 1.64772E-5
12-49165634-G-C p.Leu970Leu synonymous ADCY6 1 83234 1.20143E-5 41617 0 NA
12-49165642-C-T p.Asp968Asn missense ADCY6 2 83222 2.40321E-5 41611 0 NA
12-49165647-C-T p.Arg966His missense ADCY6 5 83208 6.00904E-5 41604 0 1.23583E-4
12-49165648-G-A p.Arg966Cys missense ADCY6 20 83204 2.40373E-4 41602 0 0.0025
12-49165650-C-T p.Arg965His missense ADCY6 119 83184 0.00143056 41592 0 0.00146497
12-49165651-G-A p.Arg965Cys missense ADCY6 6 83176 7.21362E-5 41588 0 1.31232E-4
12-49165652-C-T p.Glu964Glu synonymous ADCY6 1 83182 1.20218E-5 41591 0 7.95298E-6
12-49165657-G-A p.Arg963Trp missense ADCY6 3 83208 3.60542E-5 41604 0 4.94364E-5
12-49165663-G-A p.Leu961Leu synonymous ADCY6 3 83206 3.60551E-5 41603 0 3.18492E-5
12-49165669-G-A p.His959Tyr missense ADCY6 1 83194 1.20201E-5 41597 0 NA
12-49165672-C-G p.Ala958Pro missense ADCY6 1 83186 1.20213E-5 41593 0 8.2409E-6
12-49165673-C-G p.Ala957Ala synonymous ADCY6 4 83192 4.80815E-5 41596 0 1.98844E-5
12-49165674-G-T p.Ala957Glu missense ADCY6 1 83190 1.20207E-5 41595 0 NA
12-49165679-G-A p.Asp955Asp synonymous ADCY6 2 83204 2.40373E-5 41602 0 3.29674E-5
12-49165701-A-G p.Leu948Pro missense ADCY6 1 83150 1.20265E-5 41575 0 NA
12-49165748-C-T p.Gly932Gly synonymous ADCY6 7 82406 8.49453E-5 41203 0 6.02607E-5
12-49165751-T-C p.Thr931Thr synonymous ADCY6 46 82370 5.58456E-4 41185 0 0.00125
12-49166072-A-G c.2787+6T>C splice_region ADCY6 1 83054 1.20404E-5 41527 0 8.56692E-6
12-49166104-G-A p.Arg921Cys missense ADCY6 1 83188 1.2021E-5 41594 0 2.39013E-5
12-49166112-G-A p.Ser918Leu missense ADCY6 1 83176 1.20227E-5 41588 0 3.98175E-6
12-49166116-C-G p.Glu917Gln missense ADCY6 1 83198 1.20195E-5 41599 0 NA
12-49166142-G-A p.Ala908Val missense ADCY6 1 83230 1.20149E-5 41615 0 6.36862E-5
12-49166170-G-C p.Pro899Ala missense ADCY6 3 83230 3.60447E-5 41615 0 7.95589E-6
12-49166171-G-A p.Thr898Thr synonymous ADCY6 3 83226 3.60464E-5 41613 0 3.18471E-5
12-49166192-C-T p.Arg891Arg synonymous ADCY6 5 83222 6.00803E-5 41611 0 9.55779E-5
12-49166197-C-T p.Gly890Arg missense ADCY6 31 83238 3.72426E-4 41619 0 5.04032E-4
12-49166205-G-A p.Pro887Leu missense+splice_region ADCY6 2 83250 2.4024E-5 41625 0 5.04032E-4
12-49166214-A-G c.2658-7T>C splice_region ADCY6 1 83240 1.20135E-5 41620 0 3.97962E-6
12-49166215-T-A c.2658-8A>T splice_region ADCY6 1 83246 1.20126E-5 41623 0 NA
12-49166215-T-G c.2658-8A>C splice_region ADCY6 1 83246 1.20126E-5 41623 0 NA
12-49166296-C-T p.Leu884Leu synonymous ADCY6 7 83232 8.41023E-5 41616 0 2.96648E-4
12-49166300-C-G p.Gly883Ala missense ADCY6 1 83222 1.20161E-5 41611 0 4.37487E-5
12-49166315-T-C p.Asn878Ser missense ADCY6 4 83192 4.80815E-5 41596 0 6.37227E-5
12-49166327-C-G c.2622-1G>C splice_acceptor ADCY6 1 83158 1.20253E-5 41579 0 3.18552E-5
12-49167244-A-T c.2621+8T>A splice_region ADCY6 3 82786 3.6238E-5 41393 0 7.97296E-5
12-49167251-C-A c.2621+1G>T splice_donor ADCY6 1 82920 1.20598E-5 41460 0 NA
12-49167258-TG-T p.His872fs frameshift ADCY6 1 83054 1.20404E-5 41527 0 NA
12-49167261-A-T p.Val871Asp missense ADCY6 1 83056 1.20401E-5 41528 0 NA
12-49167262-C-T p.Val871Ile missense ADCY6 45 83062 5.41764E-4 41531 0 3.50349E-4
12-49167263-G-A p.Gly870Gly synonymous ADCY6 2 83062 2.40784E-5 41531 0 2.78705E-5
12-49167285-T-A p.Asp863Val missense ADCY6 4 83202 4.80758E-5 41601 0 NA
12-49167292-T-C p.Ile861Val missense ADCY6 1 83222 1.20161E-5 41611 0 1.6527E-5
12-49167302-G-C p.Pro857Pro synonymous ADCY6 5 83234 6.00716E-5 41617 0 3.30442E-5
12-49167306-C-G p.Gly856Ala missense ADCY6 1 83234 1.20143E-5 41617 0 NA
12-49167307-CC-TT p.LeuGly855LeuSer missense ADCY6 1 83230 1.20149E-5 41615 0 NA
12-49167314-A-C p.Leu853Leu synonymous ADCY6 1 83252 1.20117E-5 41626 0 NA
12-49167331-T-C p.Ile848Val missense ADCY6 1 83240 1.20135E-5 41620 0 7.95703E-6
12-49167341-G-C p.Val844Val synonymous ADCY6 2 83240 2.40269E-5 41620 0 1.65224E-5
12-49167350-C-A p.Met841Ile missense ADCY6 1 83206 1.20184E-5 41603 0 NA
12-49167352-T-C p.Met841Val missense ADCY6 2 83198 2.4039E-5 41599 0 8.26146E-6
12-49167354-G-A p.Ala840Val missense ADCY6 1 83190 1.20207E-5 41595 0 NA
12-49167362-C-T p.Gly837Gly synonymous ADCY6 1 83178 1.20224E-5 41589 0 3.97953E-6
12-49167364-C-T p.Gly837Arg missense ADCY6 1 83162 1.20247E-5 41581 0 2.48036E-5
12-49167365-G-A p.Ile836Ile synonymous ADCY6 6 83160 7.21501E-5 41580 0 1.51255E-4
12-49167367-T-C p.Ile836Val missense ADCY6 3 83142 3.60828E-5 41571 0 3.3066E-5
12-49167369-C-T p.Ser835Asn missense ADCY6 1 83128 1.20296E-5 41564 0 6.25E-4
12-49167391-A-C p.Ser828Ala missense ADCY6 2 82902 2.41249E-5 41451 0 1.19416E-5
12-49167421-C-T p.Gly818Arg missense ADCY6 2 82138 2.43493E-5 41069 0 NA
12-49167422-G-A p.Ile817Ile synonymous ADCY6 2 82098 2.43611E-5 41049 0 0.00100705
12-49167427-A-G p.Phe816Leu missense ADCY6 1 81852 1.22172E-5 40926 0 2.4985E-5
12-49167434-C-T c.2443-4G>A splice_region ADCY6 3 80832 3.7114E-5 40416 0 3.34213E-5
12-49167434-C-A c.2443-4G>T splice_region ADCY6 1 80832 1.23713E-5 40416 0 7.9848E-6
12-49167435-G-A c.2443-5C>T splice_region ADCY6 2 80698 2.47838E-5 40349 0 3.34566E-5
12-49167717-G-A c.2442+6C>T splice_region ADCY6 4 81372 4.9157E-5 40686 0 2.81224E-5
12-49167733-C-T p.Ser811Asn missense ADCY6 1 81924 1.22064E-5 40962 0 8.00474E-6
12-49167748-G-A p.Thr806Ile missense ADCY6 1 82134 1.21752E-5 41067 0 3.18796E-5
12-49167759-C-T p.Leu802Leu synonymous ADCY6 1 82290 1.21521E-5 41145 0 NA
12-49167766-G-A p.Ala800Val missense ADCY6 6 82328 7.28792E-5 41164 0 1.78012E-5
12-49167781-G-A p.Ser795Phe missense ADCY6 1 82370 1.21403E-5 41185 0 9.08381E-6
12-49167818-C-A p.Asp783Tyr missense ADCY6 1 82364 1.21412E-5 41182 0 NA
12-49167833-T-C p.Asn778Asp missense ADCY6 13 82266 1.58024E-4 41133 0 6.25E-4
12-49167841-C-T p.Arg775Gln missense ADCY6 1 82188 1.21672E-5 41094 0 1.62454E-5
12-49167842-G-A p.Arg775Trp missense ADCY6 1 82184 1.21678E-5 41092 0 0.00151057
12-49167857-G-A p.Arg770Trp missense ADCY6 2 81974 2.4398E-5 40987 0 1.2334E-5
12-49167862-G-A p.Pro768Leu missense ADCY6 1 81886 1.22121E-5 40943 0 NA
12-49168179-C-T c.2283+6G>A splice_region ADCY6 1 83032 1.20435E-5 41516 0 5.77367E-5
12-49168179-C-A c.2283+6G>T splice_region ADCY6 1 83032 1.20435E-5 41516 0 3.97842E-6
12-49168211-C-G p.Val753Leu missense ADCY6 2 83188 2.40419E-5 41594 0 NA
12-49168220-C-T p.Val750Ile missense ADCY6 10 83200 1.20192E-4 41600 0 0.00151057
12-49168221-G-A p.Ser749Ser synonymous ADCY6 10 83208 1.20181E-4 41604 0 0.00100705
12-49168229-T-A p.Ile747Phe missense ADCY6 1 83228 1.20152E-5 41614 0 NA
12-49168235-C-A p.Val745Phe missense ADCY6 2 83246 2.40252E-5 41623 0 NA
12-49168236-T-C p.Ala744Ala synonymous ADCY6 1 83248 1.20123E-5 41624 0 NA
12-49168238-C-T p.Ala744Thr missense ADCY6 2 83252 2.40234E-5 41626 0 7.95412E-6
12-49168239-G-A p.Thr743Thr synonymous ADCY6 2 83258 2.40217E-5 41629 0 1.9884E-5
12-49168252-C-T p.Arg739Gln missense ADCY6 1 83266 1.20097E-5 41633 0 2.47194E-5
12-49168253-G-A p.Arg739Trp missense ADCY6 2 83280 2.40154E-5 41640 0 7.41583E-5
12-49168258-C-T p.Arg737His missense ADCY6 1 83276 1.20083E-5 41638 0 8.23981E-6
12-49168259-G-A p.Arg737Cys missense ADCY6 1 83284 1.20071E-5 41642 0 6.37796E-5
12-49168262-C-T p.Val736Ile missense ADCY6 2 83278 2.40159E-5 41639 0 NA
12-49168267-C-T p.Ser734Asn missense ADCY6 1 83274 1.20085E-5 41637 0 8.23995E-6
12-49168268-T-C p.Ser734Gly missense ADCY6 1 83272 1.20088E-5 41636 0 NA
12-49168270-C-T p.Arg733His missense ADCY6 3 83268 3.60282E-5 41634 0 3.97684E-6
12-49168271-G-A p.Arg733Cys missense ADCY6 5 83274 6.00428E-5 41637 0 1.48319E-4
12-49168279-C-T p.Arg730His missense ADCY6 2 83276 2.40165E-5 41638 0 3.18939E-5
12-49168280-G-A p.Arg730Cys missense ADCY6 3 83268 3.60282E-5 41634 0 2.47219E-5
12-49168297-A-G p.Phe724Ser missense ADCY6 1 83228 1.20152E-5 41614 0 7.95456E-6
12-49168309-C-A c.2167-8G>T splice_region ADCY6 1 83186 1.20213E-5 41593 0 6.37959E-5
12-49168469-C-T c.2166+5G>A splice_region ADCY6 1 83234 1.20143E-5 41617 0 NA
12-49168470-G-A c.2166+4C>T splice_region ADCY6 10 83234 1.20143E-4 41617 0 6.25E-4
12-49168472-A-G c.2166+2T>C splice_donor ADCY6 1 83242 1.20132E-5 41621 0 NA
12-49168474-A-C p.Ser722Ser splice_region+synonymous ADCY6 1 83244 1.20129E-5 41622 0 8.24239E-6
12-49168475-G-C p.Ser722Cys missense+splice_region ADCY6 1 83250 1.2012E-5 41625 0 8.24266E-6
12-49168498-G-C p.Ile714Met missense ADCY6 1 83268 1.20094E-5 41634 0 NA
12-49168501-C-G p.Leu713Leu synonymous ADCY6 39 83258 4.68423E-4 41629 0 8.60475E-4
12-49168506-C-T p.Val712Met missense ADCY6 7 83252 8.40821E-5 41626 0 4.77281E-5
12-49168506-C-A p.Val712Leu missense ADCY6 2 83252 2.40234E-5 41626 0 3.97735E-6
12-49168507-G-A p.Thr711Thr synonymous ADCY6 13 83246 1.56164E-4 41623 0 6.25E-4
12-49168510-G-GATT p.Ile710dup disruptive_inframe_insertion ADCY6 1 83240 1.20135E-5 41620 0 NA
12-49168514-A-G p.Leu709Pro missense ADCY6 1 83238 1.20137E-5 41619 0 8.25178E-6
12-49168524-G-C p.Leu706Val missense ADCY6 3 83204 3.6056E-5 41602 0 NA
12-49168534-G-T p.Ala702Ala synonymous ADCY6 1 83150 1.20265E-5 41575 0 7.95786E-6
12-49168541-A-T p.Ile700Asn missense ADCY6 1 83110 1.20322E-5 41555 0 1.98965E-5
12-49168547-A-G p.Leu698Pro missense ADCY6 1 83062 1.20392E-5 41531 0 NA
12-49168554-G-A p.Leu696Leu synonymous ADCY6 11 83004 1.32524E-4 41502 0 6.25E-4
12-49168566-G-A c.2079-5C>T splice_region ADCY6 3 82862 3.62048E-5 41431 0 9.5584E-5
12-49168734-T-C c.2078+6A>G splice_region ADCY6 12 82190 1.46003E-4 41095 0 4.14779E-4
12-49168735-C-T c.2078+5G>A splice_region ADCY6 2 82188 2.43345E-5 41094 0 NA
12-49168737-C-T c.2078+3G>A splice_region ADCY6 12 82172 1.46035E-4 41086 0 4.1462E-4
12-49168741-G-T p.His693Asn missense+splice_region ADCY6 6 82150 7.30371E-5 41075 0 4.4236E-5
12-49168742-T-C p.Pro692Pro splice_region+synonymous ADCY6 2 82128 2.43522E-5 41064 0 4.42556E-5
12-49168745-G-A p.Phe691Phe synonymous ADCY6 2 82136 2.43499E-5 41068 0 4.41034E-5
12-49168749-A-G p.Ile690Thr missense ADCY6 3 82104 3.6539E-5 41052 0 4.39792E-5
12-49168765-A-G p.Phe685Leu missense ADCY6 2 82034 2.43801E-5 41017 0 NA
12-49168789-G-T p.Leu677Met missense ADCY6 528 81980 0.0064406 40990 10 0.0118379
12-49168792-C-T p.Ala676Thr missense ADCY6 2 81982 2.43956E-5 40991 0 3.19081E-5
12-49168796-G-A p.Ala674Ala synonymous ADCY6 1 81996 1.21957E-5 40998 0 4.31332E-5
12-49168796-G-C p.Ala674Ala synonymous ADCY6 4 81996 4.87829E-5 40998 0 1.20133E-5
12-49168797-G-A p.Ala674Val missense ADCY6 1 81984 1.21975E-5 40992 0 NA
12-49168798-C-A p.Ala674Ser missense ADCY6 2070 81914 0.0252704 40957 32 0.0239308
12-49168802-G-A p.Tyr672Tyr synonymous ADCY6 5 81958 6.10069E-5 40979 0 3.19224E-5
12-49168809-C-T p.Gly670Glu missense ADCY6 1 81950 1.22026E-5 40975 0 NA
12-49168810-C-T p.Gly670Arg missense ADCY6 2 81948 2.44057E-5 40974 0 1.82806E-5
12-49168815-C-T p.Arg668His missense ADCY6 2 81956 2.44033E-5 40978 0 NA
12-49168819-G-T p.Pro667Thr missense ADCY6 26 81962 3.1722E-4 40981 0 5.42299E-4
12-49168827-T-C p.Lys664Arg missense ADCY6 1 81932 1.22052E-5 40966 0 1.85934E-5
12-49168830-C-T p.Arg663Gln missense ADCY6 1 81906 1.22091E-5 40953 0 4.47107E-5
12-49168831-G-A p.Arg663Trp missense ADCY6 18 81894 2.19796E-4 40947 0 2.55265E-4
12-49169078-C-T c.1980+8G>A splice_region ADCY6 1 78744 1.26994E-5 39372 0 NA
12-49169079-C-T c.1980+7G>A splice_region ADCY6 2 78902 2.53479E-5 39451 0 4.00442E-6
12-49169085-CCTT-C p.Lys660del conservative_inframe_deletion ADCY6 1 79734 1.25417E-5 39867 0 7.9961E-6
12-49169088-T-G p.Lys660Gln missense+splice_region ADCY6 1 80024 1.24963E-5 40012 0 NA
12-49169090-T-C p.Lys659Arg missense ADCY6 3 80278 3.73701E-5 40139 0 0.00125
12-49169108-T-C p.Gln653Arg missense ADCY6 1 81706 1.2239E-5 40853 0 8.2672E-5
12-49169110-G-A p.Phe652Phe synonymous ADCY6 1 81818 1.22222E-5 40909 0 3.98537E-6
12-49169118-G-A p.Leu650Phe missense ADCY6 1 82112 1.21785E-5 41056 0 NA
12-49169126-C-T p.Arg647Gln missense ADCY6 4 82384 4.85531E-5 41192 0 0.00125
12-49169127-G-A p.Arg647Trp missense ADCY6 3 82372 3.64201E-5 41186 0 3.18573E-5
12-49169129-C-T p.Arg646His missense ADCY6 4 82414 4.85354E-5 41207 0 0.001875
12-49169129-C-A p.Arg646Leu missense ADCY6 3 82412 3.64025E-5 41206 0 2.78718E-5
12-49169130-G-A p.Arg646Cys missense ADCY6 2 82478 2.42489E-5 41239 0 6.37796E-5
12-49169131-C-T p.Val645Val synonymous ADCY6 24 82534 2.90789E-4 41267 0 2.23143E-4
12-49169134-A-G p.His644His synonymous ADCY6 1 82622 1.21033E-5 41311 0 6.37674E-5
12-49169136-G-C p.His644Asp missense ADCY6 1 82658 1.2098E-5 41329 0 8.25014E-6
12-49169149-C-T p.Gln639Gln synonymous ADCY6 1 82832 1.20726E-5 41416 0 NA
12-49169162-C-T p.Arg635His missense ADCY6 50 82856 6.03457E-4 41428 0 4.41816E-4
12-49169163-G-A p.Arg635Cys missense ADCY6 1 82892 1.20639E-5 41446 0 1.19367E-5
12-49169170-G-A p.Ile632Ile synonymous ADCY6 4 82966 4.82125E-5 41483 0 3.29739E-5
12-49169177-C-T p.Arg630His missense ADCY6 2 82970 2.41051E-5 41485 0 8.24294E-6
12-49169194-C-T p.Val624Val synonymous ADCY6 1 83028 1.20441E-5 41514 0 1.64853E-5
12-49169195-A-T p.Val624Glu missense ADCY6 1 83008 1.2047E-5 41504 0 NA
12-49169196-C-T p.Val624Met missense ADCY6 1 83018 1.20456E-5 41509 0 3.97845E-6
12-49169201-T-C p.Asp622Gly missense ADCY6 1 83004 1.20476E-5 41502 0 NA
12-49169203-C-T p.Glu621Glu synonymous ADCY6 11 83034 1.32476E-4 41517 0 4.28619E-4
12-49169232-G-A p.Arg612Trp missense+splice_region ADCY6 10 82922 1.20595E-4 41461 0 7.42991E-5
12-49169239-G-A c.1833-6C>T splice_region ADCY6 2 82898 2.4126E-5 41449 0 1.19529E-5
12-49169487-G-A c.1807-6C>T splice_region ADCY6 1 78486 1.27411E-5 39243 0 4.01519E-6
12-49169739-C-G c.1806+7G>C splice_region ADCY6 1 81768 1.22297E-5 40884 0 1.94212E-5
12-49169740-C-T c.1806+6G>A splice_region ADCY6 1 81768 1.22297E-5 40884 0 4.47303E-6
12-49169746-C-T p.Met602Ile missense+splice_region ADCY6 1 81852 1.22172E-5 40926 0 NA
12-49169754-G-A p.Arg600Cys missense ADCY6 1 81816 1.22225E-5 40908 0 4.3066E-6
12-49169777-C-T p.Arg592Gln missense ADCY6 3 82008 3.65818E-5 41004 0 2.59869E-5
12-49169778-G-A p.Arg592Trp missense ADCY6 3 82022 3.65756E-5 41011 0 6.3795E-5
12-49169780-G-A p.Ser591Phe missense ADCY6 7 82072 8.5291E-5 41036 0 4.08754E-6
12-49169789-C-T p.Arg588His missense ADCY6 1 82148 1.21732E-5 41074 0 3.41087E-5
12-49169790-G-A p.Arg588Cys missense ADCY6 16 82166 1.94728E-4 41083 0 6.69173E-4
12-49169800-C-T p.Trp584* stop_gained ADCY6 1 82262 1.21563E-5 41131 0 NA
12-49169805-G-A p.Arg583Cys missense ADCY6 1 82282 1.21533E-5 41141 0 3.11055E-5
12-49169805-G-T p.Arg583Ser missense ADCY6 1 82282 1.21533E-5 41141 0 NA
12-49169807-G-A p.Pro582Leu missense ADCY6 18 82354 2.18569E-4 41177 0 4.46343E-4
12-49169811-T-C p.Met581Val missense ADCY6 1 82424 1.21324E-5 41212 0 9.998E-6
12-49169817-C-G p.Gly579Arg missense ADCY6 1 82458 1.21274E-5 41229 0 NA
12-49169829-T-G p.Asn575His missense ADCY6 2 82486 2.42465E-5 41243 0 NA
12-49169830-G-C p.Ala574Ala synonymous ADCY6 2 82488 2.4246E-5 41244 0 NA
12-49169840-C-T p.Arg571Gln missense ADCY6 16 82504 1.9393E-4 41252 0 2.54972E-4
12-49169841-G-A p.Arg571Trp missense ADCY6 20 82496 2.42436E-4 41248 0 0.00100908
12-49169852-G-A p.Ala567Val missense ADCY6 1 82598 1.21068E-5 41299 0 NA
12-49169860-G-A p.Ala564Ala synonymous ADCY6 85 82676 0.00102811 41338 0 0.00352467
12-49169861-G-A p.Ala564Val missense ADCY6 1 82686 1.20939E-5 41343 0 NA
12-49169878-T-C c.1678-4A>G splice_region ADCY6 57 82724 6.89038E-4 41362 0 8.60805E-4
12-49169880-C-T c.1678-6G>A splice_region ADCY6 7 82712 8.4631E-5 41356 0 1.05478E-4
12-49169881-G-A c.1678-7C>T splice_region ADCY6 3 82706 3.62731E-5 41353 0 6.25E-4
12-49169984-G-GCCCTGA c.1677+7_1677+8insTCAGGG splice_region ADCY6 2 82962 2.41074E-5 41481 0 3.98064E-6
12-49169994-G-A p.Arg559Trp missense+splice_region ADCY6 1 83036 1.2043E-5 41518 0 3.30028E-5
12-49170004-G-T p.Ala555Ala synonymous ADCY6 38 83050 4.57556E-4 41525 0 3.50318E-4
12-49170006-C-A p.Ala555Ser missense ADCY6 1 83046 1.20415E-5 41523 0 3.97886E-6
12-49170006-C-T p.Ala555Thr missense ADCY6 3 83046 3.61246E-5 41523 0 1.40241E-4
12-49170007-G-A p.Gly554Gly synonymous ADCY6 1 83062 1.20392E-5 41531 0 6.25E-4
12-49170029-A-G p.Ile547Thr missense ADCY6 222 83192 0.00266853 41596 1 0.013125
12-49170039-C-G p.Glu544Gln missense ADCY6 1 83216 1.20169E-5 41608 0 NA
12-49170050-G-A p.Ala540Val missense ADCY6 2 83208 2.40361E-5 41604 0 8.24131E-6
12-49170051-C-T p.Ala540Thr missense ADCY6 1 83216 1.20169E-5 41608 0 8.24198E-6
12-49170052-G-A p.Asn539Asn synonymous ADCY6 6 83224 7.20946E-5 41612 0 1.07137E-4
12-49170054-T-C p.Asn539Asp missense ADCY6 1 83226 1.20155E-5 41613 0 NA
12-49170056-C-T p.Arg538His missense ADCY6 3 83224 3.60473E-5 41612 0 9.55475E-5
12-49170058-C-A p.Glu537Asp missense ADCY6 1 83224 1.20158E-5 41612 0 NA
12-49170061-G-A p.Gly536Gly synonymous ADCY6 9 83228 1.08137E-4 41614 0 4.9447E-5
12-49170063-C-T p.Gly536Ser missense ADCY6 3 83226 3.60464E-5 41613 0 1.91119E-4
12-49170069-G-A p.Arg534Cys missense ADCY6 18 83230 2.16268E-4 41615 0 0.003125
12-49170081-C-T p.Val530Met missense ADCY6 1 83230 1.20149E-5 41615 0 NA
12-49170085-G-A p.Tyr528Tyr synonymous ADCY6 4 83248 4.80492E-5 41624 0 1.19297E-4
12-49170092-C-G p.Gly526Ala missense ADCY6 1 83250 1.2012E-5 41625 0 NA
12-49170092-C-T p.Gly526Glu missense ADCY6 2 83250 2.4024E-5 41625 0 NA
12-49170110-G-A p.Thr520Ile missense ADCY6 2 83202 2.40379E-5 41601 0 8.24389E-6
12-49170117-G-A p.Arg518Trp missense ADCY6 25 83166 3.00604E-4 41583 0 1.75E-4
12-49170203-CT-C c.1535+7delA splice_region ADCY6 54 82058 6.58071E-4 41029 0 6.79353E-4
12-49170208-C-T c.1535+3G>A splice_region ADCY6 1 81942 1.22038E-5 40971 0 NA
12-49170217-C-T p.Arg510Gln missense ADCY6 1 82302 1.21504E-5 41151 0 4.00506E-6
12-49170218-G-A p.Arg510Trp missense ADCY6 5 82190 6.08347E-5 41095 0 5.61595E-5
12-49170233-T-C p.Met505Val missense ADCY6 1 82680 1.20948E-5 41340 0 NA
12-49170234-G-A p.His504His synonymous ADCY6 1 82690 1.20934E-5 41345 0 1.66486E-5
12-49170270-G-A p.Phe492Phe synonymous ADCY6 1 82870 1.20671E-5 41435 0 NA
12-49170283-C-T p.Arg488Gln missense ADCY6 8 82940 9.64553E-5 41470 0 6.37755E-5
12-49170296-C-T p.Val484Ile missense ADCY6 2 83020 2.40906E-5 41510 0 1.65678E-5
12-49170297-G-A p.Gly483Gly synonymous ADCY6 4 83008 4.81881E-5 41504 0 1.99122E-5
12-49170300-G-A p.Cys482Cys synonymous ADCY6 2 83028 2.40883E-5 41514 0 4.14305E-5
12-49170306-C-T p.Val480Val synonymous ADCY6 1 83022 1.2045E-5 41511 0 NA
12-49170308-C-T p.Val480Met missense ADCY6 1 83020 1.20453E-5 41510 0 3.98584E-6
12-49170309-G-A p.Arg479Arg synonymous ADCY6 1444 82968 0.0174043 41484 63 0.0329912
12-49170310-C-T p.Arg479His missense ADCY6 2 83010 2.40935E-5 41505 0 3.98645E-6
12-49170315-G-A p.Ser477Ser synonymous ADCY6 4 82964 4.82137E-5 41482 0 1.65961E-5
12-49170321-G-A p.Ile475Ile synonymous ADCY6 6 82998 7.22909E-5 41499 3 5.04032E-4
12-49170330-G-A p.Arg472Arg synonymous ADCY6 4 82880 4.82625E-5 41440 0 2.49971E-5
12-49170332-G-A p.Arg472Cys missense ADCY6 2 82890 2.41284E-5 41445 0 NA
12-49170335-T-A p.Met471Leu missense ADCY6 1 82904 1.20621E-5 41452 0 NA
12-49170336-G-A p.Asn470Asn synonymous ADCY6 722 82868 0.00871265 41434 15 0.017204
12-49170349-C-G p.Gly466Ala missense ADCY6 1 82752 1.20843E-5 41376 0 NA
12-49170350-C-T p.Gly466Ser missense ADCY6 2 82724 2.41768E-5 41362 0 8.4578E-6
12-49170374-G-A c.1377-5C>T splice_region ADCY6 5 82160 6.08569E-5 41080 0 6.25E-4
12-49170886-C-T c.1376+1G>A splice_donor ADCY6 1 83178 1.20224E-5 41589 0 NA
12-49170894-C-G p.Ala457Pro missense ADCY6 1 83220 1.20163E-5 41610 0 NA
12-49170910-C-T p.Gly451Gly synonymous ADCY6 1 83228 1.20152E-5 41614 0 NA
12-49170930-G-T p.His445Asn missense ADCY6 16 83216 1.92271E-4 41608 0 1.67562E-4
12-49170940-G-A p.Ala441Ala synonymous ADCY6 9 83216 1.08152E-4 41608 0 6.63174E-5
12-49170940-G-T p.Ala441Ala synonymous ADCY6 1 83216 1.20169E-5 41608 0 NA
12-49170952-C-A p.Pro437Pro synonymous ADCY6 51 83220 6.12833E-4 41610 0 0.00127453
12-49170952-C-T p.Pro437Pro synonymous ADCY6 2 83220 2.40327E-5 41610 0 1.65456E-5
12-49170953-G-T p.Pro437Gln missense ADCY6 1 83188 1.2021E-5 41594 0 NA
12-49170954-G-C p.Pro437Ala missense ADCY6 1 83204 1.20187E-5 41602 0 NA
12-49170988-G-T p.Ile425Ile synonymous ADCY6 15 83276 1.80124E-4 41638 0 7.33091E-4
12-49171190-C-T c.1248+3G>A splice_region ADCY6 2 83082 2.40726E-5 41541 0 1.59239E-5
12-49171212-C-T p.Arg410Gln missense ADCY6 2 83222 2.40321E-5 41611 0 NA
12-49171212-C-A p.Arg410Leu missense ADCY6 2 83222 2.40321E-5 41611 0 NA
12-49171214-G-A p.Ala409Ala synonymous ADCY6 1 83224 1.20158E-5 41612 0 8.24878E-6
12-49171250-C-T p.Ala397Ala synonymous ADCY6 3 83314 3.60084E-5 41657 0 5.03525E-4
12-49171288-T-TGTCTGCAAACAGGATGCTGTAGATGACAGCAGAGGATGAACAGAACAAATAGCCCTCAAA p.Asp384_Ile385insPheGluGlyTyrLeuPheCysSerSerSerAlaValIleTyrSerIleLeuPheAlaAsp conservative_inframe_insertion ADCY6 12 83250 1.44144E-4 41625 0 0.00165742
12-49171295-A-G p.Phe382Phe synonymous ADCY6 1 83326 1.20011E-5 41663 0 NA
12-49171296-A-G p.Phe382Ser missense ADCY6 1 83326 1.20011E-5 41663 0 7.9538E-6
12-49171298-C-A p.Leu381Leu synonymous ADCY6 1 83322 1.20016E-5 41661 0 3.18471E-5
12-49171298-C-CGGCCCAATCCCA p.Leu381_Phe382insGlyIleGlyPro disruptive_inframe_insertion ADCY6 1 83322 1.20016E-5 41661 0 NA
12-49171300-G-A p.Leu381Leu synonymous ADCY6 1 83318 1.20022E-5 41659 0 3.977E-6
12-49171301-G-A p.Ile380Ile synonymous ADCY6 4 83312 4.80123E-5 41656 0 NA
12-49171384-TACCCTC-T c.1136+8_1136+13delGAGGGT splice_region ADCY6 8 83346 9.59854E-5 41673 0 3.1904E-5
12-49171444-C-G p.Asp364His missense ADCY6 5 83336 5.99981E-5 41668 0 3.1837E-5
12-49171475-C-T p.Glu353Glu synonymous ADCY6 1 83312 1.20031E-5 41656 0 1.98821E-5
12-49171487-G-A p.His349His synonymous ADCY6 3 83274 3.60256E-5 41637 0 3.18613E-5
12-49171493-G-C p.Pro347Pro synonymous ADCY6 1 83240 1.20135E-5 41620 0 3.97731E-6
12-49171493-G-A p.Pro347Pro synonymous ADCY6 1 83240 1.20135E-5 41620 0 8.23805E-6
12-49171502-C-T p.Ser344Ser synonymous ADCY6 9 83184 1.08194E-4 41592 0 8.24198E-5
12-49171507-G-C p.Leu343Val missense ADCY6 1 83158 1.20253E-5 41579 0 NA
12-49171515-C-T p.Arg340Gln missense ADCY6 4 83030 4.81754E-5 41515 0 7.95957E-6
12-49171524-C-T c.1015-5G>A splice_region ADCY6 1 82900 1.20627E-5 41450 0 NA
12-49171898-C-T p.Arg336Gln missense ADCY6 1 81586 1.2257E-5 40793 0 2.67559E-5
12-49171904-T-G p.Glu334Ala missense ADCY6 2 81770 2.44588E-5 40885 0 NA
12-49171915-G-A p.His330His synonymous ADCY6 1 81960 1.22011E-5 40980 0 NA
12-49171922-C-G p.Arg328Pro missense ADCY6 1 82006 1.21942E-5 41003 0 NA
12-49171932-T-C p.Ile325Val missense ADCY6 1 82272 1.21548E-5 41136 0 NA
12-49171972-C-T p.Glu311Glu synonymous ADCY6 3 82948 3.61672E-5 41474 0 6.25E-4
12-49171975-T-G p.Ala310Ala synonymous ADCY6 2 82962 2.41074E-5 41481 0 NA
12-49171979-G-A p.Pro309Leu missense ADCY6 1 82982 1.20508E-5 41491 0 NA
12-49171990-G-A p.Cys305Cys synonymous ADCY6 1 82980 1.20511E-5 41490 0 8.26556E-6
12-49172002-G-A p.Val301Val synonymous ADCY6 1 83020 1.20453E-5 41510 0 NA
12-49172004-C-T p.Val301Ile missense ADCY6 1 82984 1.20505E-5 41492 0 1.98877E-5
12-49172005-G-A p.Asn300Asn synonymous ADCY6 3 82992 3.61481E-5 41496 0 1.65216E-5
12-49172006-T-C p.Asn300Ser missense ADCY6 2 82992 2.40987E-5 41496 0 3.19081E-5
12-49172016-G-A p.Leu297Phe missense ADCY6 1 82966 1.20531E-5 41483 0 NA
12-49172030-T-C p.Asn292Ser missense ADCY6 3 82782 3.62398E-5 41391 0 6.36537E-5
12-49172037-C-T p.Gly290Ser missense ADCY6 1 82616 1.21042E-5 41308 0 2.48254E-5
12-49172050-G-A p.His8His synonymous ADCY6 2 82242 2.43185E-5 41121 0 3.18492E-5
12-49172051-T-C p.His8Arg missense ADCY6 1 82166 1.21705E-5 41083 0 8.28871E-6
12-49172069-A-G p.Val2Ala missense ADCY6 3 81272 3.69131E-5 40636 0 3.18776E-5
12-49172106-C-T c.-33G>A 5_prime_UTR_premature_start_codon_gain ADCY6 1 76456 1.30794E-5 38228 0 2.56318E-5
12-49172106-C-A c.-33G>T 5_prime_UTR_premature_start_codon_gain ADCY6 1 76456 1.30794E-5 38228 0 1.70879E-5
12-49172112-C-T c.-39G>A 5_prime_UTR_premature_start_codon_gain ADCY6 1 75312 1.32781E-5 37656 0 4.12426E-6
12-49172139-G-C c.-66C>G 5_prime_UTR_premature_start_codon_gain ADCY6 3 66920 4.48296E-5 33460 0 3.18613E-5
12-49172169-C-A c.-96G>T 5_prime_UTR_premature_start_codon_gain ADCY6 3 57170 5.24751E-5 28585 0 NA
12-49176366-G-A p.Phe284Phe synonymous ADCY6 1 82168 1.21702E-5 41084 0 NA
12-49176379-C-T p.Arg280His missense ADCY6 2 82376 2.42789E-5 41188 0 1.0378E-5
12-49176387-T-G p.Gln277His missense ADCY6 1 82428 1.21318E-5 41214 0 NA
12-49176393-G-A p.Ala275Ala synonymous ADCY6 4 82448 4.85154E-5 41224 0 NA
12-49176401-TC-T p.Ile273fs frameshift ADCY6 1 82482 1.21239E-5 41241 0 NA
12-49176403-A-G p.Leu272Ser missense ADCY6 1 82470 1.21256E-5 41235 0 NA
12-49176406-T-C p.His271Arg missense ADCY6 5 82458 6.06369E-5 41229 0 9.83822E-5
12-49176438-G-C p.Ala260Ala synonymous ADCY6 3 82468 3.63777E-5 41234 0 3.94882E-5
12-49176443-C-T p.Ala259Thr missense ADCY6 1 82426 1.21321E-5 41213 0 2.20791E-5
12-49176445-C-T p.Arg258Gln missense ADCY6 1 82436 1.21306E-5 41218 0 1.38493E-5
12-49176446-G-A p.Arg258Trp missense ADCY6 2 82434 2.42618E-5 41217 0 8.50774E-5
12-49176457-G-A p.Pro254Leu missense ADCY6 1 82456 1.21277E-5 41228 0 NA
12-49176462-G-C p.Leu252Leu synonymous ADCY6 2 82402 2.42713E-5 41201 0 NA
12-49176465-C-T p.Thr251Thr synonymous ADCY6 2 82362 2.4283E-5 41181 0 1.58408E-5
12-49176468-G-A p.Tyr250Tyr synonymous ADCY6 1 82398 1.21362E-5 41199 0 1.6302E-5
12-49176474-G-A p.Ile248Ile synonymous ADCY6 1 82380 1.21389E-5 41190 0 NA
12-49176491-C-G p.Val243Leu missense ADCY6 1 82380 1.21389E-5 41190 0 5.0263E-5
12-49176491-CAG-C p.Pro242fs frameshift ADCY6 1 82380 1.21389E-5 41190 0 NA
12-49176503-G-C p.Leu239Val missense ADCY6 21 82394 2.54873E-4 41197 0 1.98223E-4
12-49176505-C-A p.Gly238Val missense ADCY6 1 82340 1.21448E-5 41170 0 NA
12-49176507-C-T p.Ala237Ala synonymous ADCY6 17 82336 2.06471E-4 41168 0 6.05173E-4
12-49176508-G-A p.Ala237Val missense ADCY6 2 82336 2.42907E-5 41168 0 9.55597E-5
12-49176510-A-T p.Ser236Ser synonymous ADCY6 1 82340 1.21448E-5 41170 0 8.00871E-5
12-49176512-A-G p.Ser236Pro missense ADCY6 2 82340 2.42895E-5 41170 0 0.00125
12-49176514-G-A p.Pro235Leu missense ADCY6 2 82352 2.4286E-5 41176 0 NA
12-49176520-C-G p.Arg233Pro missense ADCY6 1 82238 1.21598E-5 41119 0 4.42177E-6
12-49176522-C-T p.Pro232Pro synonymous ADCY6 1 82224 1.21619E-5 41112 0 3.18695E-5
12-49176523-G-A p.Pro232Leu missense ADCY6 2 82266 2.43114E-5 41133 0 1.79905E-4
12-49176526-T-G p.Asp231Ala missense ADCY6 8 82170 9.73591E-5 41085 0 4.40141E-5
12-49176534-G-A p.Leu228Leu synonymous ADCY6 2 82250 2.43161E-5 41125 0 1.37103E-5
12-49176539-C-T p.Ala227Thr missense ADCY6 2 82146 2.43469E-5 41073 0 NA
12-49176545-C-T p.Gly225Arg missense ADCY6 15 82244 1.82384E-4 41122 0 2.05778E-5
12-49176546-G-A p.Val224Val synonymous ADCY6 1 82210 1.2164E-5 41105 0 8.20459E-6
12-49176549-C-T p.Gln223Gln synonymous ADCY6 1 82258 1.21569E-5 41129 0 0.00125
12-49176558-C-T p.Ala220Ala synonymous ADCY6 1 82212 1.21637E-5 41106 0 4.04832E-6
12-49176559-G-T p.Ala220Glu missense ADCY6 6 82186 7.30051E-5 41093 0 5.11509E-5
12-49176561-C-T p.Leu219Leu synonymous ADCY6 1 82244 1.21589E-5 41122 0 NA
12-49176563-G-A p.Leu219Leu synonymous ADCY6 1 82280 1.21536E-5 41140 0 2.4162E-5
12-49176578-C-T p.Val214Met missense ADCY6 6 82228 7.29678E-5 41114 0 5.20858E-5
12-49176579-G-A p.Tyr213Tyr synonymous ADCY6 7 82214 8.51436E-5 41107 0 5.60767E-5
12-49176582-G-A p.Ser212Ser synonymous ADCY6 4539 82064 0.0553105 41032 168 0.0535146
12-49176591-C-T p.Trp209* stop_gained ADCY6 1 82248 1.21584E-5 41124 0 3.99747E-6
12-49176606-G-A p.Arg204Arg synonymous ADCY6 1 82246 1.21586E-5 41123 0 NA
12-49176619-C-T p.Arg200Gln missense ADCY6 1 82310 1.21492E-5 41155 0 8.41864E-6
12-49176627-CA-C p.Val197fs frameshift ADCY6 1 82288 1.21524E-5 41144 0 NA
12-49176634-A-G p.Met195Thr missense ADCY6 1 82332 1.21459E-5 41166 0 NA
12-49176639-C-T p.Gly193Gly synonymous ADCY6 3 82244 3.64768E-5 41122 0 0.0015121
12-49176644-C-T p.Val192Met missense ADCY6 1 82222 1.21622E-5 41111 0 5.04032E-4
12-49176645-G-A p.Phe191Phe synonymous ADCY6 1 82222 1.21622E-5 41111 0 3.99004E-6
12-49176654-G-A p.Ala188Ala synonymous ADCY6 1 82104 1.21797E-5 41052 0 8.37044E-6
12-49176656-C-T p.Ala188Thr missense ADCY6 1 82024 1.21916E-5 41012 0 5.18975E-5
12-49176656-C-A p.Ala188Ser missense ADCY6 1 82024 1.21916E-5 41012 0 NA
12-49176657-G-A p.Ala187Ala synonymous ADCY6 3 82030 3.6572E-5 41015 0 9.55475E-5
12-49176666-C-T p.Leu184Leu synonymous ADCY6 1 81934 1.22049E-5 40967 0 NA
12-49176691-G-A p.Pro176Leu missense ADCY6 4 81392 4.91449E-5 40696 0 4.21095E-5
12-49176693-G-A p.Arg175Arg synonymous ADCY6 1 81326 1.22962E-5 40663 0 3.18552E-5
12-49176699-G-C p.Pro173Pro synonymous ADCY6 6 81196 7.38953E-5 40598 0 2.33083E-4
12-49176699-G-A p.Pro173Pro synonymous ADCY6 8 81196 9.8527E-5 40598 0 2.53066E-5
12-49176704-C-T p.Ala172Thr missense ADCY6 1 81030 1.23411E-5 40515 0 4.02291E-6
12-49176722-G-A p.Leu166Leu synonymous ADCY6 1 81338 1.22944E-5 40669 0 NA
12-49176726-C-T p.Ala164Ala synonymous ADCY6 11 81382 1.35165E-4 40691 0 9.64134E-5
12-49176727-G-A p.Ala164Val missense ADCY6 1 81286 1.23022E-5 40643 0 1.68486E-5
12-49176731-T-C p.Thr163Ala missense ADCY6 1 81478 1.22733E-5 40739 0 2.86843E-4
12-49176740-C-T p.Val160Met missense ADCY6 1 81596 1.22555E-5 40798 0 NA
12-49176741-C-T p.Leu159Leu synonymous ADCY6 1 81638 1.22492E-5 40819 0 4.01784E-6
12-49176748-G-A p.Ala157Val missense ADCY6 1 81800 1.22249E-5 40900 0 8.40986E-6
12-49176753-C-G p.Leu155Leu synonymous ADCY6 1 81950 1.22026E-5 40975 0 NA
12-49176753-C-T p.Leu155Leu synonymous ADCY6 1 81950 1.22026E-5 40975 0 NA
12-49176772-T-C p.Gln149Arg missense ADCY6 1 82336 1.21454E-5 41168 0 5.02782E-5
12-49176780-C-T p.Gln146Gln synonymous ADCY6 2 82370 2.42807E-5 41185 0 7.53744E-5
12-49176781-T-G p.Gln146Pro missense ADCY6 2 82370 2.42807E-5 41185 0 NA
12-49176781-T-C p.Gln146Arg missense ADCY6 1 82370 1.21403E-5 41185 0 3.18532E-5
12-49176787-A-G p.Phe144Ser missense ADCY6 1 82360 1.21418E-5 41180 0 NA
12-49176805-C-T p.Arg138His missense ADCY6 2008 82270 0.0244074 41135 43 0.0206445
12-49176805-C-A p.Arg138Leu missense ADCY6 1 82328 1.21465E-5 41164 0 8.37437E-6
12-49176806-G-A p.Arg138Cys missense ADCY6 2 82310 2.42984E-5 41155 0 6.37024E-5
12-49176812-G-A p.Leu136Leu synonymous ADCY6 1 82324 1.21471E-5 41162 0 NA
12-49176820-G-A p.Ser133Leu missense ADCY6 1 82286 1.21527E-5 41143 0 3.18532E-5
12-49176823-C-T p.Arg132His missense ADCY6 1 82274 1.21545E-5 41137 0 2.51446E-5
12-49176824-G-A p.Arg132Cys missense ADCY6 1 82254 1.21575E-5 41127 0 4.0102E-6
12-49176835-G-A p.Ser128Leu missense ADCY6 2 82050 2.43754E-5 41025 0 5.87613E-5
12-49176835-G-C p.Ser128Trp missense ADCY6 1 82050 1.21877E-5 41025 0 4.01481E-6
12-49176838-T-C p.Gln127Arg missense ADCY6 1 81988 1.21969E-5 40994 0 NA
12-49176844-A-G p.Val125Ala missense ADCY6 2 81872 2.44284E-5 40936 0 NA
12-49176845-C-T p.Val125Met missense ADCY6 1 81908 1.22088E-5 40954 0 NA
12-49176847-T-C p.Gln124Arg missense ADCY6 1 81878 1.22133E-5 40939 0 3.18573E-5
12-49176857-G-A p.Arg121Cys missense ADCY6 1 81658 1.22462E-5 40829 0 NA
12-49176860-G-A p.Arg120Cys missense ADCY6 956 81624 0.0117122 40812 10 0.017815
12-49176864-G-A p.Cys118Cys synonymous ADCY6 39 81618 4.77836E-4 40809 0 5.03525E-4
12-49176871-C-T p.Arg116Gln missense ADCY6 1 81560 1.22609E-5 40780 0 3.18593E-5
12-49176872-G-T p.Arg116Arg synonymous ADCY6 13148 81216 0.161889 40608 1163 0.168007
12-49176873-C-T p.Gly115Gly synonymous ADCY6 1 81518 1.22672E-5 40759 0 NA
12-49176879-C-T p.Arg113Arg synonymous ADCY6 1 81510 1.22684E-5 40755 0 NA
12-49176882-G-A p.Pro112Pro synonymous ADCY6 1 81470 1.22745E-5 40735 0 8.50514E-6
12-49176888-C-T p.Ala110Ala synonymous ADCY6 1 81416 1.22826E-5 40708 0 0.00125
12-49176889-G-A p.Ala110Val missense ADCY6 1 81430 1.22805E-5 40715 0 NA
12-49176891-G-A p.Asp109Asp synonymous ADCY6 9 81410 1.10552E-4 40705 0 0.00100705
12-49176893-C-T p.Asp109Asn missense ADCY6 2 81402 2.45694E-5 40701 0 1.70955E-5
12-49176896-G-A p.Pro108Ser missense ADCY6 4 81314 4.9192E-5 40657 0 3.42038E-5
12-49176897-C-A p.Ala107Ala synonymous ADCY6 12 81294 1.47612E-4 40647 0 0.00100705
12-49176901-A-G p.Val106Ala missense ADCY6 2 81340 2.45881E-5 40670 0 8.56399E-6
12-49176909-C-T p.Thr103Thr synonymous ADCY6 1 81434 1.22799E-5 40717 0 3.18613E-5
12-49176910-G-A p.Thr103Met missense ADCY6 2 81408 2.45676E-5 40704 0 2.45743E-5
12-49176924-C-T p.Thr98Thr synonymous ADCY6 4 81622 4.90064E-5 40811 0 3.43595E-5
12-49176925-G-A p.Thr98Met missense ADCY6 1 81592 1.22561E-5 40796 0 3.18552E-5
12-49176932-C-A p.Val96Leu missense ADCY6 1 81658 1.22462E-5 40829 0 NA
12-49176936-G-A p.Thr94Thr synonymous ADCY6 3 81676 3.67305E-5 40838 0 0.0020141
12-49176940-T-C p.Asp93Gly missense ADCY6 2 81712 2.44762E-5 40856 0 1.72185E-5
12-49176942-C-A p.Glu92Asp missense ADCY6 2 81728 2.44714E-5 40864 0 8.61312E-6
12-49176945-G-A p.Phe91Phe synonymous ADCY6 9 81690 1.10173E-4 40845 0 7.75675E-5
12-49176951-C-T p.Leu89Leu synonymous ADCY6 1 81710 1.22384E-5 40855 0 NA
12-49176954-G-A p.Ala88Ala synonymous ADCY6 1 81646 1.2248E-5 40823 0 4.12188E-6
12-49176955-G-A p.Ala88Val missense ADCY6 2 81608 2.45074E-5 40804 0 3.18593E-5
12-49176964-C-G p.Arg85Pro missense ADCY6 2 81592 2.45122E-5 40796 0 NA
12-49176965-G-A p.Arg85Trp missense ADCY6 1 81508 1.22687E-5 40754 0 NA
12-49176985-T-G p.Lys78Thr missense ADCY6 1 81398 1.22853E-5 40699 0 1.65057E-4
12-49176991-G-A p.Pro76Leu missense ADCY6 1 81238 1.23095E-5 40619 0 NA
12-49176995-C-T p.Gly75Ser missense ADCY6 6 81034 7.4043E-5 40517 0 2.54826E-4
12-49176996-G-A p.Gly74Gly synonymous ADCY6 2 80986 2.46956E-5 40493 0 1.7474E-5
12-49176998-C-A p.Gly74Cys missense ADCY6 2 81018 2.46859E-5 40509 0 8.7353E-6
12-49177003-C-G p.Arg72Pro missense ADCY6 1 80926 1.2357E-5 40463 0 NA
12-49177004-G-A p.Arg72Trp missense ADCY6 1 80928 1.23567E-5 40464 0 6.37146E-5
12-49177014-G-A p.Asp68Asp synonymous ADCY6 9 80958 1.11169E-4 40479 0 2.23072E-4
12-49177025-A-T p.Trp65Arg missense ADCY6 1 80936 1.23554E-5 40468 0 NA
12-49177032-C-A p.Arg62Arg synonymous ADCY6 27 80844 3.33977E-4 40422 0 5.04541E-4
12-49177034-G-A p.Arg62Trp missense ADCY6 13 80942 1.60609E-4 40471 0 1.59205E-4
12-49177042-C-T p.Gly59Asp missense ADCY6 1 80932 1.23561E-5 40466 0 6.30517E-4
12-49177049-G-A p.Pro57Ser missense ADCY6 1 81106 1.23295E-5 40553 0 NA
12-49177060-G-C p.Pro53Arg missense ADCY6 1 81152 1.23226E-5 40576 0 NA
12-49177073-C-G p.Asp49His missense ADCY6 4 81538 4.90569E-5 40769 0 3.18512E-5
12-49177076-G-A p.Arg48Trp missense ADCY6 1 81554 1.22618E-5 40777 0 2.65182E-5
12-49177078-A-G p.Leu47Pro missense ADCY6 3 81622 3.67548E-5 40811 0 4.04603E-6
12-49177088-T-C p.Met44Val missense ADCY6 1 81862 1.22157E-5 40931 0 8.7184E-6
12-49177094-G-A p.Arg42Cys missense ADCY6 3 81922 3.66202E-5 40961 0 2.41072E-5
12-49177097-G-T p.Pro41Thr missense ADCY6 1 81880 1.2213E-5 40940 0 8.65321E-6
12-49177098-C-A p.Thr40Thr synonymous ADCY6 5 81850 6.10874E-5 40925 0 3.18654E-5
12-49177098-C-T p.Thr40Thr synonymous ADCY6 1 81850 1.22175E-5 40925 0 NA
12-49177100-T-C p.Thr40Ala missense ADCY6 7 81864 8.55077E-5 40932 0 4.30344E-5
12-49177111-C-T p.Gly36Asp missense ADCY6 6 82078 7.31012E-5 41039 0 3.18613E-5
12-49177113-T-G p.Ala35Ala synonymous ADCY6 23904 81290 0.294058 40645 3732 0.322687
12-49177117-C-T p.Arg34Gln missense ADCY6 34 82266 4.13293E-4 41133 0 7.00949E-4
12-49177117-C-A p.Arg34Leu missense ADCY6 1 82268 1.21554E-5 41134 0 3.98985E-6
12-49177118-G-A p.Arg34Trp missense ADCY6 14 82238 1.70238E-4 41119 0 1.67255E-4
12-49177126-C-T p.Arg31His missense ADCY6 3 82418 3.63998E-5 41209 0 9.55779E-5
12-49177127-G-A p.Arg31Cys missense ADCY6 2 82416 2.42671E-5 41208 0 1.19545E-5
12-49177130-G-A p.Arg30Cys missense ADCY6 1 82430 1.21315E-5 41215 0 3.32867E-5
12-49177132-C-T p.Arg29Gln missense ADCY6 1 82484 1.21236E-5 41242 0 2.49406E-5
12-49177133-G-A p.Arg29Trp missense ADCY6 7 82492 8.48567E-5 41246 0 6.77091E-5
12-49177133-G-C p.Arg29Gly missense ADCY6 1 82492 1.21224E-5 41246 0 NA
12-49177138-C-T p.Arg27His missense ADCY6 1 82636 1.21013E-5 41318 0 7.96172E-6
12-49177139-G-A p.Arg27Cys missense ADCY6 1 82666 1.20969E-5 41333 0 1.65744E-5
12-49177140-C-A p.Lys26Asn missense ADCY6 2 82730 2.4175E-5 41365 0 NA
12-49177152-G-A p.Arg22Arg synonymous ADCY6 1 82824 1.20738E-5 41412 0 3.97852E-6
12-49177154-G-A p.Arg22Cys missense ADCY6 1 82852 1.20697E-5 41426 0 NA
12-49177159-C-T p.Gly20Asp missense ADCY6 1 82910 1.20613E-5 41455 0 NA
12-49177167-T-C p.Thr17Thr synonymous ADCY6 3 82960 3.6162E-5 41480 0 3.18573E-5
12-49177174-C-T p.Arg15Gln missense ADCY6 2 82992 2.40987E-5 41496 0 NA
12-49177175-G-A p.Arg15Trp missense ADCY6 1 82994 1.20491E-5 41497 0 3.18512E-5
12-49177175-G-C p.Arg15Gly missense ADCY6 4 82994 4.81963E-5 41497 0 3.18512E-5
12-49177226-T-C c.-9A>G 5_prime_UTR_premature_start_codon_gain ADCY6 1 82376 1.21395E-5 41188 0 NA
12-49177242-T-C c.-25A>G 5_prime_UTR_premature_start_codon_gain ADCY6 1 80996 1.23463E-5 40498 0 0.00125
12-49177245-T-C c.-28A>G 5_prime_UTR_premature_start_codon_gain ADCY6 1 80616 1.24045E-5 40308 0 NA
12-49177262-T-C c.-45A>G 5_prime_UTR_premature_start_codon_gain ADCY6 1 77640 1.288E-5 38820 0 NA
12-49177290-G-A c.-73C>T 5_prime_UTR_premature_start_codon_gain ADCY6 3 70340 4.265E-5 35170 0 9.55597E-5
12-49177436-T-A c.-219A>T 5_prime_UTR_premature_start_codon_gain ADCY6 34 36134 9.40942E-4 18067 0 0.00283566
12-49177465-C-T c.-248G>A 5_prime_UTR_premature_start_codon_gain ADCY6 1 33156 3.01605E-5 16578 0 NA
12-49177477-G-A c.-260C>T 5_prime_UTR_premature_start_codon_gain ADCY6 1 31388 3.18593E-5 15694 0 3.18492E-5
12-49177610-G-A c.-393C>T 5_prime_UTR_premature_start_codon_gain ADCY6 1 5894 1.69664E-4 2947 0 1.59337E-4