Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-203096765-G-T c.-349G>T 5_prime_UTR_premature_start_codon_gain ADORA1 2 1574 0.00127065 787 0 6.38814E-5
1-203096954-C-T c.-312-3C>T splice_region ADORA1 1 2850 3.50877E-4 1425 0 0.00143321
1-203097399-T-C c.-212-7T>C splice_region ADORA1 5 77314 6.46713E-5 38657 0 1.0408E-4
1-203097405-GGCCGGGCTGGGA-G c.-210_-199delCGGGCTGGGAGC splice_region ADORA1 1 77418 1.29169E-5 38709 0 NA
1-203097448-C-T c.-170C>T 5_prime_UTR_premature_start_codon_gain ADORA1 1 77920 1.28337E-5 38960 0 NA
1-203097567-T-A c.-58+7T>A splice_region ADORA1 1 77408 1.29186E-5 38704 0 3.19489E-5
1-203097924-G-C c.-46G>C 5_prime_UTR_premature_start_codon_gain ADORA1 1 79688 1.25489E-5 39844 0 NA
1-203097932-T-G c.-38T>G 5_prime_UTR_premature_start_codon_gain ADORA1 6 80108 7.48989E-5 40054 0 6.65561E-4
1-203097934-G-A c.-36G>A 5_prime_UTR_premature_start_codon_gain ADORA1 1 80132 1.24794E-5 40066 0 4.79616E-6
1-203097939-C-T c.-31C>T 5_prime_UTR_premature_start_codon_gain ADORA1 1 80314 1.24511E-5 40157 0 2.76589E-5
1-203097942-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain ADORA1 1 80524 1.24187E-5 40262 0 9.19879E-6
1-203097961-G-A c.-9G>A 5_prime_UTR_premature_start_codon_gain ADORA1 1 81268 1.2305E-5 40634 0 NA
1-203097975-G-A p.Pro2Pro synonymous ADORA1 184 81848 0.00224807 40924 0 0.0042065
1-203097976-C-T p.Pro3Ser missense ADORA1 2 81926 2.44123E-5 40963 0 3.75053E-5
1-203097982-A-G p.Ile5Val missense ADORA1 1 82248 1.21584E-5 41124 0 4.10981E-6
1-203098005-C-T p.Tyr12Tyr synonymous ADORA1 1 82842 1.20712E-5 41421 0 1.60874E-5
1-203098036-TC-CT p.Ser23Leu missense ADORA1 2 83186 2.40425E-5 41593 0 NA
1-203098042-C-G p.Pro25Ala missense ADORA1 1 83188 1.2021E-5 41594 0 NA
1-203098044-C-T p.Pro25Pro synonymous ADORA1 1 83202 1.20189E-5 41601 0 2.47619E-5
1-203098050-C-T p.Asn27Asn synonymous ADORA1 1 83204 1.20187E-5 41602 0 1.64997E-5
1-203098058-T-C p.Val30Ala missense ADORA1 1 83218 1.20166E-5 41609 0 NA
1-203098072-A-G p.Lys35Glu missense ADORA1 1 83232 1.20146E-5 41616 0 NA
1-203098085-C-T p.Ala39Val missense ADORA1 1 83214 1.20172E-5 41607 0 2.38994E-4
1-203098086-G-A p.Ala39Ala synonymous ADORA1 5 83230 6.00745E-5 41615 0 8.24131E-5
1-203098090-C-T p.Arg41Trp missense ADORA1 3 83236 3.60421E-5 41618 0 NA
1-203098101-C-T p.Thr44Thr synonymous ADORA1 1 83234 1.20143E-5 41617 0 NA
1-203098106-G-A p.Cys46Tyr missense ADORA1 5 83230 6.00745E-5 41615 0 4.37525E-5
1-203098119-G-A p.Ser50Ser synonymous ADORA1 10 83200 1.20192E-4 41600 1 4.46144E-4
1-203098124-C-T p.Ala52Val missense ADORA1 1 83184 1.20215E-5 41592 0 NA
1-203098126-G-A p.Val53Met missense ADORA1 72 83196 8.65426E-4 41598 1 0.00184866
1-203098136-T-G p.Val56Gly missense ADORA1 1 83130 1.20294E-5 41565 0 NA
1-203098151-T-TC p.Val62fs frameshift ADORA1 1 83160 1.2025E-5 41580 0 NA
1-203098154-T-C p.Val62Ala missense ADORA1 1 83138 1.20282E-5 41569 0 NA
1-203098164-C-T p.Leu65Leu synonymous ADORA1 8 83176 9.61816E-5 41588 0 2.87063E-4
1-203098173-C-T p.Leu68Leu synonymous ADORA1 1 83212 1.20175E-5 41606 0 8.23778E-6
1-203098178-A-C p.Asn70Thr missense ADORA1 1 83220 1.20163E-5 41610 0 NA
1-203098191-G-T p.Gln74His missense ADORA1 1 83228 1.20152E-5 41614 0 3.29506E-5
1-203098196-A-C p.Tyr76Ser missense ADORA1 1 83216 1.20169E-5 41608 0 NA
1-203098222-T-G p.Cys85Gly missense ADORA1 1 83178 1.20224E-5 41589 0 4.11957E-5
1-203098226-C-G p.Pro86Arg missense ADORA1 1 83148 1.20267E-5 41574 0 NA
1-203098245-G-T p.Gln92His missense ADORA1 2 82960 2.4108E-5 41480 0 3.18695E-5
1-203098275-T-G p.Ala102Ala synonymous ADORA1 22552 80872 0.27886 40436 3142 0.31375
1-203098278-G-T p.Val103Val synonymous ADORA1 1 82494 1.21221E-5 41247 0 NA
1-203134180-G-A c.342-4G>A splice_region ADORA1 1 77714 1.28677E-5 38857 0 NA
1-203134182-A-G c.342-2A>G splice_acceptor ADORA1 2 77780 2.57136E-5 38890 0 6.67014E-6
1-203134184-G-A p.Arg114Arg splice_region+synonymous ADORA1 1 77878 1.28406E-5 38939 0 NA
1-203134186-G-T p.Arg115Ile missense+splice_region ADORA1 2 77962 2.56535E-5 38981 0 NA
1-203134202-G-A p.Met120Ile missense ADORA1 1 78610 1.2721E-5 39305 0 NA
1-203134217-T-C p.Ser125Ser synonymous ADORA1 1 79162 1.26323E-5 39581 0 NA
1-203134385-C-G c.342-4C>G splice_region ADORA1 6 82648 7.2597E-5 41324 0 3.82385E-4
1-203134398-G-A p.Met117Ile missense ADORA1 2 82726 2.41762E-5 41363 0 6.37552E-5
1-203134399-G-T p.Val118Leu missense ADORA1 7 82708 8.46351E-5 41354 0 1.91229E-4
1-203134411-C-T p.Arg122Trp missense ADORA1 5 82758 6.04171E-5 41379 0 2.31745E-5
1-203134412-G-A p.Arg122Gln missense ADORA1 2 82770 2.41633E-5 41385 0 1.38707E-5
1-203134419-G-A p.Ala124Ala synonymous ADORA1 8 82834 9.65787E-5 41417 0 1.9118E-4
1-203134420-G-A p.Ala125Thr missense ADORA1 1 82822 1.20741E-5 41411 0 NA
1-203134422-G-A p.Ala125Ala synonymous ADORA1 4 82862 4.8273E-5 41431 0 6.25E-4
1-203134429-A-G p.Ile128Val missense ADORA1 1 82946 1.2056E-5 41473 0 NA
1-203134434-C-T p.Ala129Ala synonymous ADORA1 1 82968 1.20528E-5 41484 0 6.37105E-5
1-203134434-C-A p.Ala129Ala synonymous ADORA1 1 82968 1.20528E-5 41484 0 NA
1-203134435-G-A p.Gly130Ser missense ADORA1 1 82968 1.20528E-5 41484 0 3.18674E-5
1-203134455-C-T p.Phe136Phe synonymous ADORA1 1 83096 1.20343E-5 41548 0 3.18613E-5
1-203134456-G-C p.Val137Leu missense ADORA1 5 83084 6.01801E-5 41542 0 8.98005E-6
1-203134474-A-G p.Met143Val missense ADORA1 3 83152 3.60785E-5 41576 0 8.94614E-6
1-203134499-C-T p.Ala151Val missense ADORA1 4 83176 4.80908E-5 41588 0 6.22632E-5
1-203134500-G-A p.Ala151Ala synonymous ADORA1 1 83198 1.20195E-5 41599 0 4.43207E-5
1-203134506-G-T p.Glu153Asp missense ADORA1 3 83214 3.60516E-5 41607 0 8.36407E-6
1-203134507-C-T p.Arg154Trp missense ADORA1 2 83214 2.40344E-5 41607 0 6.25E-4
1-203134508-G-A p.Arg154Gln missense ADORA1 1 83222 1.20161E-5 41611 0 3.52553E-5
1-203134513-T-C p.Trp156Arg missense ADORA1 1 83240 1.20135E-5 41620 0 NA
1-203134519-G-T p.Ala158Ser missense ADORA1 6 83246 7.20755E-5 41623 0 1.27453E-4
1-203134523-A-G p.Asn159Ser missense ADORA1 3 83248 3.60369E-5 41624 0 9.55718E-5
1-203134524-C-T p.Asn159Asn synonymous ADORA1 9 83240 1.08121E-4 41620 0 6.25E-4
1-203134525-G-A p.Gly160Ser missense ADORA1 2 83252 2.40234E-5 41626 0 3.18573E-5
1-203134526-G-A p.Gly160Asp missense ADORA1 1 83250 1.2012E-5 41625 0 NA
1-203134531-A-G p.Met162Val missense ADORA1 1 83256 1.20111E-5 41628 0 3.44287E-5
1-203134543-G-A p.Val166Met missense ADORA1 7 83282 8.40518E-5 41641 0 1.59327E-4
1-203134544-T-C p.Val166Ala missense ADORA1 1 83276 1.20083E-5 41638 0 NA
1-203134550-A-C p.Lys168Thr missense ADORA1 1 83292 1.2006E-5 41646 0 1.68782E-5
1-203134560-C-T p.Phe171Phe synonymous ADORA1 2 83312 2.40061E-5 41656 0 8.38631E-6
1-203134566-G-A p.Lys173Lys synonymous ADORA1 7 83332 8.40013E-5 41666 0 5.01186E-5
1-203134573-A-G p.Ser176Gly missense ADORA1 5 83334 5.99995E-5 41667 0 3.98441E-6
1-203134575-C-A p.Ser176Arg missense ADORA1 1 83340 1.1999E-5 41670 0 NA
1-203134576-A-G p.Met177Val missense ADORA1 1 83344 1.19985E-5 41672 0 NA
1-203134585-A-G p.Met180Val missense ADORA1 1 83338 1.19993E-5 41669 0 NA
1-203134592-A-G p.Tyr182Cys missense ADORA1 2 83334 2.39998E-5 41667 0 8.31352E-6
1-203134599-C-T p.Asn184Asn synonymous ADORA1 1 83354 1.1997E-5 41677 0 NA
1-203134617-G-A p.Leu190Leu synonymous ADORA1 1 83338 1.19993E-5 41669 0 9.55901E-5
1-203134618-C-T p.Pro191Ser missense ADORA1 2 83340 2.39981E-5 41670 0 3.18552E-5
1-203134623-G-A p.Pro192Pro synonymous ADORA1 7 83352 8.39812E-5 41676 0 0.00125
1-203134632-C-T p.Leu195Leu synonymous ADORA1 41 83350 4.91902E-4 41675 1 0.00133843
1-203134641-C-T p.Leu198Leu synonymous ADORA1 1 83360 1.19962E-5 41680 0 NA
1-203134647-C-T p.Tyr200Tyr synonymous ADORA1 1 83346 1.19982E-5 41673 0 NA
1-203134657-T-G p.Phe204Val missense ADORA1 1 83344 1.19985E-5 41672 0 NA
1-203134662-C-T p.Tyr205Tyr synonymous ADORA1 1 83344 1.19985E-5 41672 0 8.26228E-6
1-203134669-C-T p.Arg208Cys missense ADORA1 10 83338 1.19993E-4 41669 0 1.40405E-4
1-203134670-G-A p.Arg208His missense ADORA1 5 83326 6.00053E-5 41663 0 4.37686E-5
1-203134671-C-A p.Arg208Arg synonymous ADORA1 3 83328 3.60023E-5 41664 0 8.25791E-6
1-203134681-A-G p.Asn212Asp missense ADORA1 1 83332 1.20002E-5 41666 0 3.97817E-6
1-203134682-A-G p.Asn212Ser missense ADORA1 153 83334 0.00183599 41667 0 0.00162503
1-203134683-C-A p.Asn212Lys missense ADORA1 1 83338 1.19993E-5 41669 0 NA
1-203134691-T-C p.Val215Ala missense ADORA1 3 83320 3.60058E-5 41660 0 8.2526E-6
1-203134694-C-T p.Ser216Leu missense ADORA1 1 83306 1.20039E-5 41653 0 1.19354E-5
1-203134704-C-T p.Ser219Ser synonymous ADORA1 6 83302 7.20271E-5 41651 0 5.03525E-4
1-203134707-C-T p.Gly220Gly synonymous ADORA1 1 83292 1.2006E-5 41646 0 3.97855E-6
1-203134712-C-T p.Pro222Leu missense ADORA1 1 83298 1.20051E-5 41649 0 3.18837E-5
1-203134713-G-A p.Pro222Pro synonymous ADORA1 1 83296 1.20054E-5 41648 0 6.37471E-5
1-203134743-C-T p.Ile232Ile synonymous ADORA1 1 83236 1.2014E-5 41618 0 1.40794E-4
1-203134744-G-A p.Ala233Thr missense ADORA1 1 83214 1.20172E-5 41607 0 NA
1-203134751-C-T p.Ser235Leu missense ADORA1 2 83208 2.40361E-5 41604 0 3.18756E-5
1-203134802-T-C p.Ile252Thr missense ADORA1 1 83206 1.20184E-5 41603 0 8.34934E-6
1-203134803-C-G p.Ile252Met missense ADORA1 4 83224 4.80631E-5 41612 0 6.37105E-5
1-203134809-C-T p.Asn254Asn synonymous ADORA1 5 83240 6.00673E-5 41620 0 8.35743E-5
1-203134818-C-T p.Thr257Thr synonymous ADORA1 1 83258 1.20109E-5 41629 0 3.18654E-5
1-203134829-C-T p.Pro261Leu missense ADORA1 2 83268 2.40188E-5 41634 0 2.50601E-5
1-203134830-G-A p.Pro261Pro synonymous ADORA1 1 83266 1.20097E-5 41633 0 5.22739E-5
1-203134877-C-T p.Thr277Met missense ADORA1 1 83302 1.20045E-5 41651 0 NA
1-203134878-G-A p.Thr277Thr synonymous ADORA1 4 83290 4.8025E-5 41645 0 1.27437E-4
1-203134881-C-T p.His278His synonymous ADORA1 4 83292 4.80238E-5 41646 0 4.97562E-5
1-203134895-T-C p.Met283Thr missense ADORA1 1 83264 1.201E-5 41632 0 NA
1-203134918-C-T p.Arg291Cys missense ADORA1 1 83184 1.20215E-5 41592 0 NA
1-203134919-G-A p.Arg291His missense ADORA1 1 83162 1.20247E-5 41581 0 6.37186E-5
1-203134935-C-T p.Arg296Arg synonymous ADORA1 4 82956 4.82183E-5 41478 0 9.55536E-5
1-203134935-C-A p.Arg296Arg synonymous ADORA1 1 82956 1.20546E-5 41478 0 6.37024E-5
1-203134936-G-A p.Val297Ile missense ADORA1 2 82890 2.41284E-5 41445 0 3.18532E-5
1-203134959-T-C p.Asn304Asn synonymous ADORA1 1 81708 1.22387E-5 40854 0 NA
1-203134963-C-A p.His306Asn missense ADORA1 1 81380 1.2288E-5 40690 0 NA
1-203134969-C-T p.Arg308Cys missense ADORA1 1 80446 1.24307E-5 40223 0 6.37105E-5
1-203134981-G-A p.Ala312Thr missense ADORA1 2 78002 2.56404E-5 39001 0 NA
1-203134982-C-T p.Ala312Val missense ADORA1 4 77918 5.1336E-5 38959 0 6.25E-4
1-203134986-T-G p.Pro313Pro synonymous ADORA1 1 77106 1.29692E-5 38553 0 NA
1-203134991-T-C p.Ile315Thr missense ADORA1 1 76080 1.31441E-5 38040 0 2.73473E-5
1-203134993-G-A p.Asp316Asn missense ADORA1 1 75476 1.32492E-5 37738 0 3.18613E-5
1-203134995-C-T p.Asp316Asp synonymous ADORA1 14 74468 1.88E-4 37234 0 1.17113E-4
1-203134996-G-A p.Glu317Lys missense ADORA1 3 73992 4.05449E-5 36996 0 9.19972E-6
1-203135001-T-C p.Asp318Asp synonymous ADORA1 1 72206 1.38493E-5 36103 0 5.09778E-5
1-203135013-G-C p.Glu322Asp missense ADORA1 11 68528 1.60518E-4 34264 0 7.27762E-5
1-203136529-C-CTTTCCAGTTCCCCGCCACTTCCCCCAAGCTCTAACTGCAGCATCTCTT c.*1501_*1502insTTTCCAGTTCCCCGCCACTTCCCCCAAGCTCTAACTGCAGCATCTCTT splice_region ADORA1 2 2988 6.69344E-4 1494 1 NA