Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-112026317-G-C p.Gln346Glu missense ADORA3 5 83226 6.00774E-5 41613 0 3.36808E-5
1-112026328-G-A p.Ala342Val missense ADORA3 1 83262 1.20103E-5 41631 0 NA
1-112026329-C-T p.Ala342Thr missense ADORA3 1 83264 1.201E-5 41632 0 8.35268E-6
1-112026340-G-A p.Pro338Leu missense ADORA3 2 83274 2.40171E-5 41637 0 1.27389E-4
1-112026352-C-G p.Arg334Pro missense ADORA3 2 83280 2.40154E-5 41640 0 6.36862E-5
1-112026352-C-T p.Arg334His missense ADORA3 1 83280 1.20077E-5 41640 0 2.50029E-5
1-112026353-G-A p.Arg334Cys missense ADORA3 7 83278 8.40558E-5 41639 0 3.16836E-4
1-112026354-C-T p.Ser333Ser synonymous ADORA3 26 83282 3.12192E-4 41641 0 9.87198E-4
1-112026355-G-A p.Ser333Leu missense ADORA3 3 83276 3.60248E-5 41638 0 6.25E-4
1-112026359-A-G p.Phe332Leu missense ADORA3 1 83280 1.20077E-5 41640 0 3.97829E-6
1-112026370-G-A p.Thr328Ile missense ADORA3 56 83262 6.72576E-4 41631 0 0.00454087
1-112026370-G-C p.Thr328Ser missense ADORA3 1 83262 1.20103E-5 41631 0 2.51534E-5
1-112026375-G-A p.Gly326Gly synonymous ADORA3 11 83248 1.32135E-4 41624 0 4.45831E-4
1-112026375-G-C p.Gly326Gly synonymous ADORA3 2 83248 2.40246E-5 41624 0 4.20635E-5
1-112026383-T-C c.974-4A>G splice_region ADORA3 1 83198 1.20195E-5 41599 0 NA
1-112026386-T-C c.974-7A>G splice_region ADORA3 2 83180 2.40442E-5 41590 0 1.69921E-5
1-112027939-T-C n.739A>G splice_region ADORA3 28 52 0.538462 26 7 0.700829
1-112028358-T-G c.973+4A>C splice_region ADORA3 1 82396 1.21365E-5 41198 0 NA
1-112028360-A-G c.973+2T>C splice_donor ADORA3 4 82352 4.8572E-5 41176 0 3.25924E-5
1-112028360-AC-A c.973+1delG splice_donor ADORA3 1 82352 1.2143E-5 41176 0 2.52338E-5
1-112028371-T-C p.Asn322Asp missense ADORA3 1 83066 1.20386E-5 41533 0 NA
1-112028381-TCTC-T p.Arg318del disruptive_inframe_deletion ADORA3 1 83228 1.20152E-5 41614 0 NA
1-112028386-TC-T p.Arg317fs frameshift ADORA3 2 83238 2.40275E-5 41619 0 5.03525E-4
1-112028387-C-T p.Arg316Arg synonymous ADORA3 2 83246 2.40252E-5 41623 0 8.28349E-6
1-112028389-T-A p.Arg316Trp missense ADORA3 2 83260 2.40211E-5 41630 0 5.03525E-4
1-112028395-T-C p.Thr314Ala missense ADORA3 1 83282 1.20074E-5 41641 0 1.6533E-5
1-112028401-G-T p.His312Asn missense ADORA3 19 83306 2.28075E-4 41653 0 5.03525E-4
1-112028408-T-C p.Val309Val synonymous ADORA3 3 83318 3.60066E-5 41659 0 8.25846E-6
1-112028421-C-T p.Gly305Glu missense ADORA3 3 83312 3.60092E-5 41656 0 1.65183E-5
1-112028428-C-G p.Gly303Arg missense ADORA3 2 83328 2.40015E-5 41664 0 8.26187E-6
1-112028429-C-T p.Thr114Thr splice_region+synonymous ADORA3 1 83324 1.20013E-5 41662 0 5.03525E-4
1-112028430-G-A p.Thr114Met missense+splice_region ADORA3 3 83318 3.60066E-5 41659 0 1.99614E-5
1-112028433-A-G p.Ile301Thr missense ADORA3 1 83332 1.20002E-5 41666 0 6.37267E-5
1-112028440-T-G p.Ile299Leu missense ADORA3 4 83322 4.80065E-5 41661 0 4.80354E-5
1-112028440-T-A p.Ile299Leu missense ADORA3 1 83324 1.20013E-5 41662 0 NA
1-112028440-T-C p.Ile299Val missense ADORA3 2 83324 2.40027E-5 41662 0 2.48213E-5
1-112028459-C-T p.Thr292Thr synonymous ADORA3 7 83292 8.40417E-5 41646 0 6.25E-4
1-112028460-G-A p.Thr292Met missense+splice_region ADORA3 27 83292 3.24161E-4 41646 0 3.82166E-4
1-112029214-C-T p.Arg289His missense ADORA3 11 82876 1.32728E-4 41438 0 3.18756E-4
1-112029215-G-A p.Arg289Cys missense ADORA3 8 82858 9.65507E-5 41429 0 5.37803E-4
1-112029216-G-T p.Asp288Glu missense ADORA3 1 82912 1.2061E-5 41456 0 NA
1-112029226-C-T p.Arg285His missense ADORA3 10 82950 1.20555E-4 41475 0 0.001875
1-112029227-G-A p.Arg285Cys missense ADORA3 4 82948 4.8223E-5 41474 0 7.95431E-6
1-112029227-G-C p.Arg285Gly missense ADORA3 1 82948 1.20557E-5 41474 0 6.38488E-5
1-112029232-A-G p.Val283Ala missense ADORA3 2 83004 2.40952E-5 41502 0 NA
1-112029241-G-A p.Ala280Val missense ADORA3 146 83010 0.00175882 41505 0 0.0013084
1-112029247-C-A p.Cys278Phe missense ADORA3 1 83022 1.2045E-5 41511 0 3.97763E-6
1-112031310-C-A p.Trp265Leu missense ADORA3 1 83112 1.2032E-5 41556 0 3.18573E-5
1-112031315-G-T p.Asp263Glu missense ADORA3 1 83158 1.20253E-5 41579 0 3.18532E-5
1-112031316-T-A p.Asp263Val missense ADORA3 1 83174 1.2023E-5 41587 0 8.29146E-6
1-112031318-A-T p.Asn262Lys missense ADORA3 1 83184 1.20215E-5 41592 0 3.18593E-5
1-112031319-T-C p.Asn262Ser missense ADORA3 1 83180 1.20221E-5 41590 0 3.18451E-5
1-112031322-G-C p.Ala261Gly missense ADORA3 1 83200 1.20192E-5 41600 0 NA
1-112031327-G-C p.Thr259Thr synonymous ADORA3 1 83230 1.20149E-5 41615 0 1.98919E-5
1-112031327-G-T p.Thr259Thr synonymous ADORA3 2 83230 2.40298E-5 41615 0 5.96758E-5
1-112031338-C-T p.Asp256Asn missense ADORA3 1 83272 1.20088E-5 41636 0 6.36983E-5
1-112031339-G-A p.Asp255Asp synonymous ADORA3 25 83262 3.00257E-4 41631 0 0.0020141
1-112031346-A-G p.Val253Ala missense ADORA3 1 83296 1.20054E-5 41648 0 8.24226E-6
1-112031368-T-C p.Met246Val missense ADORA3 1 83324 1.20013E-5 41662 0 8.24076E-6
1-112031379-G-A p.Ala242Val missense ADORA3 1 83326 1.20011E-5 41663 0 8.24212E-6
1-112031403-C-A p.Trp234Leu missense ADORA3 2 83322 2.40033E-5 41661 0 3.97788E-6
1-112031409-C-T p.Trp232* stop_gained ADORA3 19 83330 2.28009E-4 41665 1 NA
1-112031414-C-T p.Thr230Thr synonymous ADORA3 1 83336 1.19996E-5 41668 0 3.97886E-6
1-112031415-G-A p.Thr230Met missense ADORA3 3 83324 3.6004E-5 41662 0 4.94764E-5
1-112031420-C-G p.Glu228Asp missense ADORA3 1 83346 1.19982E-5 41673 0 NA
1-112031426-G-C p.Thr226Thr synonymous ADORA3 1 83348 1.19979E-5 41674 0 NA
1-112031426-G-A p.Thr226Thr synonymous ADORA3 1 83348 1.19979E-5 41674 0 NA
1-112031433-C-A p.Cys224Phe missense ADORA3 1 83350 1.19976E-5 41675 0 NA
1-112031464-T-A p.Thr214Ser missense ADORA3 3 83354 3.59911E-5 41677 0 6.36355E-5
1-112031471-C-T p.Leu211Leu synonymous ADORA3 4 83362 4.79835E-5 41681 0 1.5911E-5
1-112031476-C-T p.Ala210Thr missense ADORA3 5 83346 5.99909E-5 41673 0 2.22973E-4
1-112031478-A-G p.Val209Ala missense ADORA3 3 83358 3.59893E-5 41679 0 3.18512E-5
1-112031508-A-G p.Ile199Thr missense ADORA3 3 83344 3.59954E-5 41672 0 0.00125
1-112031509-T-C p.Ile199Val missense ADORA3 3 83348 3.59937E-5 41674 0 4.11923E-5
1-112031509-TG-T p.Ile199fs frameshift ADORA3 2 83348 2.39958E-5 41674 0 8.23845E-6
1-112031515-T-C p.Asn197Asp missense ADORA3 9 83338 1.07994E-4 41669 0 1.99032E-5
1-112031516-G-A p.Cys196Cys synonymous ADORA3 3 83332 3.60006E-5 41666 0 7.96172E-6
1-112031519-G-A p.Tyr195Tyr synonymous ADORA3 2 83336 2.39992E-5 41668 0 2.47137E-5
1-112031526-C-T p.Arg193His missense ADORA3 2 83338 2.39987E-5 41669 0 1.19545E-5
1-112031527-G-A p.Arg193Cys missense ADORA3 5 83342 5.99938E-5 41671 0 4.94242E-5
1-112031531-A-G p.Tyr191Tyr synonymous ADORA3 7 83338 8.39953E-5 41669 0 2.47117E-5
1-112031532-T-C p.Tyr191Cys missense ADORA3 1 83340 1.1999E-5 41670 0 NA
1-112031536-C-T p.Gly190Ser missense ADORA3 1 83350 1.19976E-5 41675 0 NA
1-112031538-C-T p.Arg189Gln missense ADORA3 2 83344 2.39969E-5 41672 0 6.25E-4
1-112031539-G-A p.Arg189* stop_gained ADORA3 2 83338 2.39987E-5 41669 0 NA
1-112031544-C-T p.Trp187* stop_gained ADORA3 1 83344 1.19985E-5 41672 0 NA
1-112031553-G-A p.Pro184Leu missense ADORA3 1 83332 1.20002E-5 41666 0 NA
1-112031561-C-A p.Lys181Asn missense ADORA3 1 83324 1.20013E-5 41662 0 4.00019E-6
1-112031564-G-A p.Tyr180Tyr synonymous ADORA3 1 83326 1.20011E-5 41663 0 5.04032E-4
1-112031592-G-C p.Ser171Cys missense ADORA3 1 83306 1.20039E-5 41653 0 4.00937E-6
1-112031598-G-A p.Thr169Met missense ADORA3 8 83294 9.60453E-5 41647 0 1.27421E-4
1-112031605-G-T p.Leu167Met missense ADORA3 1 83274 1.20085E-5 41637 0 8.26733E-6
1-112031621-G-C p.Val161Val synonymous ADORA3 3 83172 3.60698E-5 41586 0 6.43635E-5
1-112031637-A-T p.Val156Asp missense ADORA3 2 82974 2.41039E-5 41487 0 NA
1-112031640-A-G p.Met155Thr missense ADORA3 1 82932 1.20581E-5 41466 0 4.07014E-6
1-112031643-G-A p.Ala154Val missense ADORA3 1 82858 1.20688E-5 41429 0 NA
1-112031646-T-G p.Asp153Ala missense+splice_region ADORA3 4 82800 4.83092E-5 41400 0 6.39591E-5
1-112031649-G-A c.458-3C>T splice_region ADORA3 1 82718 1.20893E-5 41359 0 NA
1-112032088-C-A n.224+1G>T splice_donor ADORA3 286 66348 0.0043106 33174 0 0.00592696
1-112032247-A-C c.34+2T>G splice_donor ADORA3 13 73122 1.77785E-4 36561 0 6.39018E-4
1-112032257-G-A p.Ser9Leu missense ADORA3 1 73186 1.36638E-5 36593 0 NA
1-112032259-CG-C p.Pro8fs frameshift ADORA3 2 73094 2.7362E-5 36547 0 NA
1-112032259-C-T p.Pro8Pro synonymous ADORA3 1 73094 1.3681E-5 36547 0 3.87267E-5
1-112032260-G-A p.Pro8Leu missense ADORA3 2 73108 2.73568E-5 36554 0 NA
1-112032261-G-A p.Pro8Ser missense ADORA3 1 73144 1.36717E-5 36572 0 4.85084E-4
1-112032263-G-C p.Pro7Arg missense ADORA3 1 73422 1.36199E-5 36711 0 NA
1-112033270-C-A c.457+8G>T splice_region ADORA3 1 83130 1.20294E-5 41565 0 NA
1-112033271-A-G c.457+7T>C splice_region ADORA3 1 83116 1.20314E-5 41558 0 3.18451E-5
1-112033285-G-C p.His15Asp missense ADORA3 6368 83052 0.0766749 41526 324 0.0999108
1-112033297-G-C p.Leu11Val missense ADORA3 2 83278 2.40159E-5 41639 0 NA
1-112033299-G-A p.Leu146Phe missense ADORA3 1 83288 1.20065E-5 41644 0 3.18532E-5
1-112033316-A-G p.Met140Thr missense ADORA3 24 83328 2.88018E-4 41664 0 6.25E-4
1-112033320-C-T p.Val139Ile missense ADORA3 1 83330 1.20005E-5 41665 0 NA
1-112033335-C-G p.Val134Leu missense ADORA3 1 83358 1.19964E-5 41679 0 NA
1-112033360-C-T p.Gly125Gly synonymous ADORA3 1 83340 1.1999E-5 41670 0 NA
1-112033363-A-C p.Pro124Pro synonymous ADORA3 4 83336 4.79985E-5 41668 0 2.78722E-5
1-112033371-C-T p.Gly122Arg missense ADORA3 2 83336 2.39992E-5 41668 0 8.32584E-6
1-112033372-AG-A p.Pro121fs frameshift ADORA3 2 83334 2.39998E-5 41667 0 8.33194E-6
1-112033373-G-A p.Pro121Leu missense ADORA3 2 83336 2.39992E-5 41668 0 1.19533E-5
1-112033374-G-A p.Pro121Ser missense ADORA3 2 83330 2.4001E-5 41665 0 3.1841E-5
1-112033384-T-C p.Arg117Arg splice_region+synonymous ADORA3 1 83310 1.20034E-5 41655 0 NA
1-112033389-T-C c.351-5A>G splice_region ADORA3 1 83288 1.20065E-5 41644 0 NA
1-112033392-A-G c.351-8T>C splice_region ADORA3 1 83258 1.20109E-5 41629 0 NA
1-112042574-A-G p.Ter319Glnext*? stop_lost ADORA3 1 83196 1.20198E-5 41598 0 2.2381E-4
1-112042593-G-T p.Ser312Arg missense ADORA3 1 83292 1.2006E-5 41646 0 NA
1-112042610-C-A p.Asp307Tyr missense ADORA3 3 83312 3.60092E-5 41656 0 1.07406E-4
1-112042615-G-A p.Pro305Leu missense ADORA3 1 83316 1.20025E-5 41658 0 9.54578E-5
1-112042630-CA-C p.Cys300fs frameshift ADORA3 1 83320 1.20019E-5 41660 0 NA
1-112042632-A-G p.Ala299Ala synonymous ADORA3 67107 82728 0.811176 41364 27256 0.875126
1-112042635-T-G p.Lys298Asn missense ADORA3 1 83312 1.20031E-5 41656 0 8.239E-6
1-112042640-G-A p.Leu297Phe missense ADORA3 1 83320 1.20019E-5 41660 0 3.97662E-6
1-112042651-T-C p.Tyr293Cys missense ADORA3 3 83320 3.60058E-5 41660 0 8.24022E-6
1-112042652-A-G p.Tyr293His missense ADORA3 2 83322 2.40033E-5 41661 0 2.78385E-5
1-112042654-G-A p.Thr292Ile missense ADORA3 2 83324 2.40027E-5 41662 0 NA
1-112042674-T-C p.Lys285Lys synonymous ADORA3 1 83320 1.20019E-5 41660 0 3.1839E-5
1-112042684-T-A p.Tyr282Phe missense ADORA3 1 83320 1.20019E-5 41660 0 3.1839E-5
1-112042688-C-T p.Val281Ile missense ADORA3 3 83322 3.60049E-5 41661 0 6.36983E-5
1-112042695-G-A p.Asn278Asn synonymous ADORA3 3 83320 3.60058E-5 41660 0 4.94421E-5
1-112042729-C-T p.Gly267Asp missense ADORA3 7 83336 8.39973E-5 41668 0 5.17067E-5
1-112042732-A-T p.Met266Lys missense ADORA3 1955 83302 0.0234688 41651 38 0.036875
1-112042752-T-C p.Val259Val synonymous ADORA3 1 83322 1.20016E-5 41661 0 3.97709E-6
1-112042775-T-C p.Ile252Val missense ADORA3 1 83314 1.20028E-5 41657 0 NA
1-112042778-A-C p.Cys251Gly missense ADORA3 12 83310 1.4404E-4 41655 0 0.00151057
1-112042780-T-C p.Asn250Ser missense ADORA3 9 83314 1.08025E-4 41657 0 1.0739E-4
1-112042782-G-C p.Ile249Met missense ADORA3 3 83300 3.60144E-5 41650 0 3.9776E-6
1-112042782-G-A p.Ile249Ile synonymous ADORA3 1 83302 1.20045E-5 41651 0 NA
1-112042787-T-G p.Ile248Leu missense ADORA3 10079 83218 0.121116 41609 664 0.166163
1-112042789-G-A p.Ser247Phe missense ADORA3 5 83296 6.00269E-5 41648 0 NA
1-112042791-T-C p.Leu246Leu synonymous ADORA3 1 83300 1.20048E-5 41650 0 3.97785E-6
1-112042795-G-C p.Pro245Arg missense ADORA3 1 83312 1.20031E-5 41656 0 NA
1-112042796-G-A p.Pro245Ser missense ADORA3 1 83304 1.20042E-5 41652 0 NA
1-112042817-A-G p.Leu238Leu synonymous ADORA3 5 83286 6.00341E-5 41643 0 1.27389E-4
1-112042827-C-T p.Leu234Leu synonymous ADORA3 1 83270 1.20091E-5 41635 0 NA
1-112042833-C-A p.Leu232Phe missense ADORA3 2 83238 2.40275E-5 41619 0 3.58089E-5
1-112042835-A-T p.Leu232Met missense ADORA3 1 83238 1.20137E-5 41619 0 NA
1-112042837-G-A p.Ser231Phe missense ADORA3 4 83234 4.80573E-5 41617 0 3.18573E-5
1-112042845-C-T p.Thr228Thr synonymous ADORA3 2 83202 2.40379E-5 41601 0 6.25E-4
1-112042845-C-G p.Thr228Thr synonymous ADORA3 1 83202 1.20189E-5 41601 0 8.24633E-6
1-112042846-G-A p.Thr228Met missense ADORA3 2 83206 2.40367E-5 41603 0 5.03525E-4
1-112042846-GT-G p.Thr228fs frameshift ADORA3 1 83206 1.20184E-5 41603 0 NA
1-112042856-C-A p.Glu225* stop_gained ADORA3 2 83184 2.40431E-5 41592 0 3.18492E-5
1-112042858-C-T p.Arg224Gln missense ADORA3 10 83170 1.20236E-4 41585 0 9.15496E-5
1-112042859-G-A p.Arg224Trp missense ADORA3 4 83170 4.80943E-5 41585 0 3.29859E-5
1-112042869-T-G p.Ala220Ala synonymous ADORA3 2 83148 2.40535E-5 41574 0 3.18532E-5
1-112042873-C-A p.Gly219Val missense ADORA3 1 83134 1.20288E-5 41567 0 1.19412E-5
1-112042892-A-G p.Ser213Pro missense ADORA3 2 83098 2.4068E-5 41549 0 NA
1-112042893-T-G p.Leu212Phe missense ADORA3 1 83094 1.20346E-5 41547 0 NA
1-112042905-G-T p.Leu208Leu synonymous ADORA3 1 83092 1.20349E-5 41546 0 NA
1-112042915-C-T p.Arg205Gln missense ADORA3 3 83106 3.60985E-5 41553 0 4.37706E-5
1-112042916-G-A p.Arg205Trp missense ADORA3 1 83116 1.20314E-5 41558 0 6.25E-4
1-112042920-G-A p.Ile203Ile synonymous ADORA3 2 83162 2.40494E-5 41581 0 9.55597E-5
1-112042922-T-C p.Ile203Val missense ADORA3 2 83166 2.40483E-5 41583 0 NA
1-112042929-G-T p.Ile200Ile synonymous ADORA3 1 83172 1.20233E-5 41586 0 8.24212E-6
1-112042939-T-A p.Tyr197Phe missense ADORA3 1 83196 1.20198E-5 41598 0 8.24022E-6
1-112042939-T-G p.Tyr197Ser missense ADORA3 1 83196 1.20198E-5 41598 0 NA
1-112042940-A-G p.Tyr197His missense ADORA3 1 83196 1.20198E-5 41598 0 8.24008E-6
1-112042942-A-C p.Ile196Ser missense ADORA3 1 83200 1.20192E-5 41600 0 7.95627E-6
1-112042944-G-A p.Ala195Ala synonymous ADORA3 2 83202 2.40379E-5 41601 0 NA
1-112042945-G-C p.Ala195Gly missense ADORA3 2 83200 2.40385E-5 41600 0 NA
1-112042946-C-T p.Ala195Thr missense ADORA3 38 83192 4.56775E-4 41596 0 0.00136934
1-112042947-G-A p.Cys194Cys synonymous ADORA3 3 83198 3.60586E-5 41599 0 6.59185E-5
1-112042951-A-G p.Met193Thr missense ADORA3 1 83212 1.20175E-5 41606 0 2.47182E-5
1-112042959-C-T p.Leu190Leu synonymous ADORA3 3 83222 3.60482E-5 41611 1 NA
1-112042960-A-G p.Leu190Pro missense ADORA3 2 83226 2.4031E-5 41613 0 3.1841E-5
1-112042973-T-C p.Ile186Val missense ADORA3 4 83242 4.80527E-5 41621 0 3.18451E-5
1-112042979-T-G p.Thr184Pro missense ADORA3 1 83256 1.20111E-5 41628 0 4.11882E-5
1-112042989-G-T p.Phe180Leu missense ADORA3 7 83266 8.40679E-5 41633 0 1.98864E-5
1-112042991-A-C p.Phe180Val missense ADORA3 1 83274 1.20085E-5 41637 0 NA
1-112042992-G-A p.Tyr179Tyr synonymous ADORA3 13 83278 1.56104E-4 41639 2 2.54696E-4
1-112042993-T-G p.Tyr179Ser missense ADORA3 1 83280 1.20077E-5 41640 0 3.18471E-5
1-112042997-C-T p.Val178Ile missense ADORA3 1 83282 1.20074E-5 41641 0 3.18471E-5
1-112042997-C-G p.Val178Leu missense ADORA3 1 83282 1.20074E-5 41641 0 NA
1-112043000-T-C p.Met177Val missense ADORA3 1 83290 1.20062E-5 41645 0 8.23723E-6
1-112043002-T-C p.Tyr176Cys missense ADORA3 1 83292 1.2006E-5 41646 0 8.23683E-6
1-112043004-G-A p.Asp175Asp synonymous ADORA3 1 83290 1.20062E-5 41645 0 3.97722E-6
1-112043005-T-C p.Asp175Gly missense ADORA3 2 83292 2.40119E-5 41646 0 NA
1-112043007-C-T p.Met174Ile missense ADORA3 1 83300 1.20048E-5 41650 0 NA
1-112043015-TG-T p.Met172fs frameshift ADORA3 1 83310 1.20034E-5 41655 0 NA
1-112043017-ACGG-A p.Ser170_Val171delinsPhe disruptive_inframe_deletion ADORA3 1 83304 1.20042E-5 41652 0 NA
1-112043018-C-T p.Val171Ile missense ADORA3 60 83302 7.20271E-4 41651 0 0.00100705
1-112043019-G-A p.Ser170Ser synonymous ADORA3 6 83304 7.20254E-5 41652 0 9.06051E-5
1-112043024-C-T p.Val169Ile missense ADORA3 1 83296 1.20054E-5 41648 0 NA
1-112043027-A-AGAAG p.Phe168fs frameshift ADORA3 1 83304 1.20042E-5 41652 0 NA
1-112043039-G-A p.Leu164Phe missense ADORA3 2 83272 2.40177E-5 41636 0 8.23669E-6
1-112043079-G-A p.Asn150Asn synonymous ADORA3 1 82930 1.20584E-5 41465 0 NA
1-112043083-C-T p.Trp149* stop_gained ADORA3 2 82918 2.41202E-5 41459 0 3.18532E-5
1-112043086-C-T p.Gly148Asp missense ADORA3 1 82868 1.20674E-5 41434 0 NA
1-112043091-C-T p.Met146Ile missense ADORA3 2 82866 2.41354E-5 41433 0 0.00125
1-112043092-A-T p.Met146Lys missense ADORA3 3 82832 3.62179E-5 41416 0 5.19746E-5
1-112043093-T-C p.Met146Val missense ADORA3 1 82794 1.20782E-5 41397 0 NA
1-112043104-C-T p.Gly142Glu missense ADORA3 1 82724 1.20884E-5 41362 0 4.00291E-6
1-112043138-G-T p.Leu131Met missense ADORA3 1 82622 1.21033E-5 41311 0 8.02401E-6
1-112043139-G-A p.Ala130Ala synonymous ADORA3 1856 82538 0.0224866 41269 29 0.036875
1-112043146-C-T p.Trp128* stop_gained ADORA3 1 82628 1.21024E-5 41314 0 NA
1-112043160-A-T p.Thr123Thr synonymous ADORA3 2 82390 2.42748E-5 41195 0 1.80774E-4
1-112045621-GGCTACCTGACGGTAAGCTTGACCCGCAAGTATCGGTCCACAGCGAT-G p.Ala105fs frameshift ADORA3 1 81524 1.22663E-5 40762 0 NA
1-112045622-G-T c.350+5C>A splice_region ADORA3 39 81524 4.78387E-4 40762 0 6.25391E-4
1-112045622-G-A c.350+5C>T splice_region ADORA3 8 81526 9.81282E-5 40763 0 6.25391E-4
1-112045625-AC-TT c.350+1_350+2delGTinsAA splice_donor ADORA3 1 81730 1.22354E-5 40865 0 NA
1-112045632-G-A p.Thr115Thr synonymous ADORA3 921 82040 0.0112262 41020 13 0.0170832
1-112045636-A-G p.Leu114Pro missense ADORA3 3 82296 3.64538E-5 41148 0 4.38481E-5
1-112045644-C-T p.Arg111Arg synonymous ADORA3 1 82510 1.21197E-5 41255 0 3.18431E-5
1-112045645-C-T p.Arg111Gln missense ADORA3 2 82556 2.4226E-5 41278 0 3.1841E-5
1-112045646-G-A p.Arg111Trp missense ADORA3 1 82568 1.21112E-5 41284 0 5.18027E-5
1-112045646-G-T p.Arg111Arg synonymous ADORA3 2 82568 2.42225E-5 41284 0 5.04032E-4
1-112045654-C-T p.Arg108Gln missense ADORA3 2 82774 2.41622E-5 41387 0 6.65048E-5
1-112045655-G-A p.Arg108* stop_gained ADORA3 8 82812 9.66044E-5 41406 0 3.18431E-5
1-112045662-A-G p.Ala105Ala synonymous ADORA3 1 82964 1.20534E-5 41482 0 3.31763E-5
1-112045663-G-A p.Ala105Val missense ADORA3 1 82964 1.20534E-5 41482 0 7.96071E-6
1-112045664-C-T p.Ala105Thr missense ADORA3 1 82954 1.20549E-5 41477 0 6.37024E-5
1-112045665-G-A p.Ile104Ile synonymous ADORA3 1 82976 1.20517E-5 41488 0 1.65752E-5
1-112045670-C-T p.Ala103Thr missense ADORA3 1 83038 1.20427E-5 41519 0 NA
1-112045678-G-A p.Ser100Phe missense ADORA3 2 83166 2.40483E-5 41583 0 NA
1-112045686-G-T p.Ser97Ser synonymous ADORA3 4 83192 4.80815E-5 41596 0 6.36821E-5
1-112045686-G-A p.Ser97Ser synonymous ADORA3 1 83192 1.20204E-5 41596 0 3.97826E-6
1-112045688-A-G p.Ser97Pro missense ADORA3 1 83196 1.20198E-5 41598 0 NA
1-112045689-G-A p.Ala96Ala synonymous ADORA3 13 83204 1.56242E-4 41602 0 3.30836E-4
1-112045690-G-C p.Ala96Gly missense ADORA3 3 83200 3.60577E-5 41600 0 6.36983E-5
1-112045692-G-A p.His95His synonymous ADORA3 10 83204 1.20187E-4 41602 0 5.04032E-4
1-112045709-G-C p.Leu90Val missense ADORA3 458 83280 0.00549952 41640 5 0.012551
1-112045712-G-A p.Leu89Leu synonymous ADORA3 109 83286 0.00130874 41643 1 0.00312122
1-112045719-C-T p.Met86Ile missense ADORA3 1 83296 1.20054E-5 41648 0 NA
1-112045726-A-T p.Leu84His missense ADORA3 1 83304 1.20042E-5 41652 0 1.65295E-5
1-112045731-G-C p.Ser82Arg missense ADORA3 3 83306 3.60118E-5 41653 0 3.1841E-5
1-112045732-C-T p.Ser82Asn missense ADORA3 1 83310 1.20034E-5 41655 0 NA
1-112045734-G-T p.Tyr81* stop_gained ADORA3 10 83312 1.20031E-4 41656 0 1.23977E-4
1-112045737-G-A p.Phe80Phe synonymous ADORA3 2 83320 2.40038E-5 41660 0 NA
1-112045741-T-C p.His79Arg missense ADORA3 2 83318 2.40044E-5 41659 0 7.95805E-6
1-112045745-T-C p.Ile78Val missense ADORA3 3 83312 3.60092E-5 41656 0 3.97886E-6
1-112045747-G-C p.Thr77Arg missense ADORA3 3 83316 3.60075E-5 41658 0 6.36664E-5
1-112045755-C-T p.Leu74Leu synonymous ADORA3 1 83326 1.20011E-5 41663 0 NA
1-112045764-A-C p.Val71Val synonymous ADORA3 1 83330 1.20005E-5 41665 0 3.1841E-5
1-112045780-A-T p.Met66Lys missense ADORA3 1 83306 1.20039E-5 41653 0 NA
1-112045821-GA-G p.Val52fs frameshift ADORA3 1 83298 1.20051E-5 41649 0 NA
1-112045825-A-C p.Ile51Ser missense ADORA3 1 83302 1.20045E-5 41651 0 1.65259E-5
1-112045842-G-A p.Thr45Thr synonymous ADORA3 1 83270 1.20091E-5 41635 0 8.27267E-6
1-112045850-G-C p.Leu43Val missense ADORA3 2 83268 2.40188E-5 41634 0 3.9789E-6
1-112045871-C-T p.Val36Met missense ADORA3 4 83238 4.8055E-5 41619 0 1.32919E-4
1-112045872-G-A p.Cys35Cys synonymous ADORA3 25 83238 3.00344E-4 41619 0 4.13789E-4
1-112045886-C-T p.Val31Met missense ADORA3 8 83202 9.61515E-5 41601 0 5.03525E-4
1-112045886-C-A p.Val31Leu missense ADORA3 1 83202 1.20189E-5 41601 0 1.66872E-5
1-112045887-G-A p.Asn30Asn synonymous ADORA3 1 83212 1.20175E-5 41606 0 6.36983E-5
1-112045899-G-A p.Ala26Ala synonymous ADORA3 1 83148 1.20267E-5 41574 0 8.39969E-6
1-112045901-C-T p.Ala26Thr missense ADORA3 1 83086 1.20357E-5 41543 0 7.96318E-6
1-112045902-G-A p.Cys25Cys synonymous ADORA3 3 83072 3.61133E-5 41536 0 1.91034E-4
1-112045912-A-G p.Ile22Thr missense ADORA3 3 82996 3.61463E-5 41498 0 0.00100705
1-112045925-T-C p.Met18Val missense ADORA3 1 82772 1.20814E-5 41386 0 8.62084E-6
1-112045925-T-A p.Met18Leu missense ADORA3 1 82772 1.20814E-5 41386 0 3.98839E-6
1-112045939-A-G p.Val13Ala missense ADORA3 2 82224 2.43238E-5 41112 0 3.18634E-5
1-112045946-C-T p.Ala11Thr missense ADORA3 1 81726 1.2236E-5 40863 0 NA
1-112045949-A-T p.Leu10Met missense ADORA3 1 81562 1.22606E-5 40781 0 9.28971E-6
1-112045949-A-G p.Leu10Leu synonymous ADORA3 1 81562 1.22606E-5 40781 0 2.78691E-5
1-112045955-G-C p.Leu8Val missense ADORA3 1 80916 1.23585E-5 40458 0 9.60412E-6
1-112045960-G-C p.Thr6Ser missense ADORA3 3 80338 3.73422E-5 40169 0 1.28172E-4
1-112045964-T-A p.Ser5Cys missense ADORA3 4 79854 5.00914E-5 39927 0 2.43708E-5
1-112045969-T-C p.Asn3Ser missense ADORA3 3 79076 3.79382E-5 39538 0 NA
1-112045973-G-T p.Pro2Thr missense ADORA3 1 78248 1.27799E-5 39124 0 NA
1-112046027-G-A c.-51C>T 5_prime_UTR_premature_start_codon_gain ADORA3 6 63604 9.43337E-5 31802 0 8.25949E-5
1-112046119-A-C n.135+2T>G splice_donor ADORA3 1 38612 2.58987E-5 19306 0 NA
1-112046120-C-G n.135+1G>C splice_donor ADORA3 3 38504 7.7914E-5 19252 0 NA
1-112106480-C-T p.Ser32Asn missense ADORA3 1 81550 1.22624E-5 40775 0 3.18532E-5
1-112106495-G-A p.Thr27Ile missense ADORA3 1 81852 1.22172E-5 40926 0 3.31516E-5
1-112106498-C-T p.Trp26* stop_gained ADORA3 1 81878 1.22133E-5 40939 0 1.65741E-5
1-112106543-T-C p.Gln11Arg missense ADORA3 1 82376 1.21395E-5 41188 0 NA
1-112106547-C-G p.Glu10Gln missense ADORA3 1 82386 1.2138E-5 41193 0 NA
1-112106550-T-C p.Ile9Val missense ADORA3 2 82380 2.42777E-5 41190 0 2.8098E-5
1-112106551-G-A p.Pro8Pro synonymous ADORA3 142 82374 0.00172384 41187 0 0.0028992
1-112106558-G-C p.Ala6Gly missense ADORA3 1 82416 1.21336E-5 41208 0 NA
1-112106566-C-A p.Gly3Gly synonymous ADORA3 2 82362 2.4283E-5 41181 0 4.01458E-6
1-112106571-C-T p.Glu2Lys missense ADORA3 1 82314 1.21486E-5 41157 0 NA