Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-115803846-G-T c.-46G>T 5_prime_UTR_premature_start_codon_gain ADRB1 1 35256 2.8364E-5 17628 0 8.33333E-4
10-115803905-T-C p.Val5Ala missense ADRB1 130 39170 0.00331887 19585 2 0.00777631
10-115803924-C-G p.Ser11Ser synonymous ADRB1 1 41684 2.399E-5 20842 0 NA
10-115803930-C-G p.Pro13Pro synonymous ADRB1 4 42870 9.33053E-5 21435 0 1.63111E-4
10-115803935-A-G p.Asn15Ser missense ADRB1 10 43436 2.30224E-4 21718 0 0.0223881
10-115803937-C-A p.Leu16Met missense ADRB1 1 43782 2.28404E-5 21891 0 NA
10-115803949-G-T p.Ala20Ser missense ADRB1 1 45196 2.21259E-5 22598 0 NA
10-115803954-G-A p.Pro21Pro synonymous ADRB1 1 46188 2.16506E-5 23094 0 6.50703E-5
10-115803955-C-T p.Leu22Phe missense ADRB1 1 46768 2.13821E-5 23384 0 NA
10-115803960-C-T p.Pro23Pro synonymous ADRB1 1 47462 2.10695E-5 23731 0 NA
10-115803973-ACCGCGGCGCGGCTG-A p.Ala29fs frameshift ADRB1 1 49426 2.02323E-5 24713 0 NA
10-115803979-G-C p.Ala30Pro missense ADRB1 1 50202 1.99195E-5 25101 0 NA
10-115803987-G-T p.Leu32Leu synonymous ADRB1 1 52022 1.92226E-5 26011 0 7.53835E-5
10-115803999-G-T p.Ala36Ala synonymous ADRB1 1 53506 1.86895E-5 26753 0 NA
10-115804005-G-T p.Pro38Pro synonymous ADRB1 1 55418 1.80447E-5 27709 0 NA
10-115804005-G-A p.Pro38Pro synonymous ADRB1 30 55416 5.4136E-4 27708 0 0.0151838
10-115804008-C-T p.Pro39Pro synonymous ADRB1 121 56794 0.00213051 28397 1 0.00602911
10-115804008-C-G p.Pro39Pro synonymous ADRB1 1 56798 1.76063E-5 28399 0 NA
10-115804009-G-A p.Ala40Thr missense ADRB1 3 56774 5.28411E-5 28387 0 1.11694E-5
10-115804010-C-A p.Ala40Asp missense ADRB1 2 57322 3.48906E-5 28661 0 1.77431E-4
10-115804013-C-G p.Ser41Trp missense ADRB1 6 58436 1.02676E-4 29218 1 1.57679E-4
10-115804015-T-C p.Leu42Leu synonymous ADRB1 1 59202 1.68913E-5 29601 0 NA
10-115804036-A-G p.Ser49Gly missense ADRB1 8525 64776 0.131607 32388 468 0.303995
10-115804041-C-G p.Pro50Pro synonymous ADRB1 1 67562 1.48012E-5 33781 0 0.00609137
10-115804046-C-G p.Pro52Arg missense ADRB1 2 69278 2.88692E-5 34639 0 3.19611E-5
10-115804051-T-C p.Ser54Pro missense ADRB1 1 71288 1.40276E-5 35644 0 NA
10-115804064-C-T p.Thr58Ile missense ADRB1 15 73948 2.02845E-4 36974 0 3.1953E-5
10-115804066-GC-TT p.Ala59Leu missense ADRB1 1 74368 1.34466E-5 37184 0 NA
10-115804068-G-A p.Ala59Ala synonymous ADRB1 1 74676 1.33912E-5 37338 0 3.19407E-5
10-115804090-C-G p.Leu67Val missense ADRB1 1 78596 1.27233E-5 39298 0 3.19407E-5
10-115804091-T-A p.Leu67His missense ADRB1 1 78820 1.26871E-5 39410 0 NA
10-115804098-G-A p.Val69Val synonymous ADRB1 75 79752 9.40415E-4 39876 0 0.00213962
10-115804101-G-C p.Leu70Leu synonymous ADRB1 1 80038 1.24941E-5 40019 0 1.03111E-4
10-115804119-T-C p.Asn76Asn synonymous ADRB1 182 80798 0.00225253 40399 0 0.00456927
10-115804132-G-C p.Val81Leu missense ADRB1 1 81292 1.23013E-5 40646 0 NA
10-115804132-G-T p.Val81Leu missense ADRB1 1 81292 1.23013E-5 40646 0 1.71098E-5
10-115804143-C-T p.Ala84Ala synonymous ADRB1 1 81778 1.22282E-5 40889 0 NA
10-115804182-C-A p.Ile97Ile synonymous ADRB1 3 82632 3.63055E-5 41316 0 9.15141E-5
10-115804183-A-G p.Met98Val missense ADRB1 1 82630 1.21021E-5 41315 0 NA
10-115804203-C-T p.Asp104Asp synonymous ADRB1 1 82792 1.20785E-5 41396 0 8.30275E-6
10-115804204-C-A p.Leu105Met missense ADRB1 1 82792 1.20785E-5 41396 0 NA
10-115804206-G-T p.Leu105Leu synonymous ADRB1 1117 82786 0.0134926 41393 37 0.0300759
10-115804207-G-C p.Val106Leu missense ADRB1 1 82810 1.20758E-5 41405 0 1.19968E-5
10-115804228-C-T p.Pro113Ser missense ADRB1 3 82778 3.62415E-5 41389 0 3.18837E-5
10-115804242-C-G p.Thr117Thr synonymous ADRB1 10 82778 1.20805E-4 41389 0 2.23243E-4
10-115804243-A-G p.Ile118Val missense ADRB1 1 82766 1.20823E-5 41383 0 3.19163E-5
10-115804266-G-A p.Glu125Glu synonymous ADRB1 5 82812 6.03777E-5 41406 0 6.39606E-5
10-115804270-G-A p.Gly127Ser missense ADRB1 1 82836 1.2072E-5 41418 0 8.28638E-6
10-115804271-G-A p.Gly127Asp missense ADRB1 3 82824 3.62214E-5 41412 0 8.28679E-6
10-115804274-C-T p.Ser128Phe missense ADRB1 1 82826 1.20735E-5 41413 0 NA
10-115804276-T-C p.Phe129Leu missense ADRB1 1 82848 1.20703E-5 41424 0 1.59959E-5
10-115804325-G-T p.Ser145Ile missense ADRB1 4 82466 4.85048E-5 41233 0 5.19667E-5
10-115804337-T-C p.Leu149Pro missense ADRB1 1 82308 1.21495E-5 41154 0 NA
10-115804390-C-T p.Gln167* stop_gained ADRB1 1 81964 1.22005E-5 40982 0 8.32542E-6
10-115804396-C-T p.Leu169Leu synonymous ADRB1 1 81942 1.22038E-5 40971 0 NA
10-115804431-C-T p.Cys180Cys synonymous ADRB1 300 82040 0.00365675 41020 3 0.00737218
10-115804432-A-G p.Thr181Ala missense ADRB1 5 82020 6.09607E-5 41010 0 8.38335E-6
10-115804433-C-A p.Thr181Asn missense ADRB1 1 82028 1.2191E-5 41014 0 NA
10-115804435-G-T p.Val182Leu missense ADRB1 1 82048 1.2188E-5 41024 0 NA
10-115804451-C-T p.Ala187Val missense ADRB1 3 81990 3.65898E-5 40995 0 6.38407E-5
10-115804462-T-C p.Phe191Leu missense ADRB1 1 81958 1.22014E-5 40979 0 NA
10-115804493-C-T p.Ala201Val missense ADRB1 2 79810 2.50595E-5 39905 0 NA
10-115804493-C-G p.Ala201Gly missense ADRB1 1 79810 1.25298E-5 39905 0 0.0015121
10-115804494-G-T p.Ala201Ala synonymous ADRB1 1 79962 1.25059E-5 39981 0 NA
10-115804508-C-T p.Ala206Val missense ADRB1 1 79330 1.26056E-5 39665 0 NA
10-115804509-G-A p.Ala206Ala synonymous ADRB1 3 79292 3.78348E-5 39646 0 3.44709E-5
10-115804514-GC-TT p.Arg208Leu missense ADRB1 2 79482 2.51629E-5 39741 0 NA
10-115804524-C-T p.Asn211Asn synonymous ADRB1 2 79788 2.50664E-5 39894 0 8.08074E-6
10-115804524-C-G p.Asn211Lys missense ADRB1 1 79788 1.25332E-5 39894 0 NA
10-115804527-C-A p.Asp212Glu missense ADRB1 1 79818 1.25285E-5 39909 0 8.07181E-6
10-115804540-G-A p.Asp217Asn missense ADRB1 1 79766 1.25367E-5 39883 0 NA
10-115804575-G-A p.Ser228Ser synonymous ADRB1 1 80558 1.24134E-5 40279 0 4.00982E-6
10-115804575-G-T p.Ser228Ser synonymous ADRB1 3 80558 3.72403E-5 40279 0 1.20294E-5
10-115804580-T-C p.Val230Ala missense ADRB1 13 80740 1.61011E-4 40370 0 4.40808E-5
10-115804581-A-T p.Val230Val synonymous ADRB1 3 80778 3.71388E-5 40389 0 3.19754E-5
10-115804582-G-C p.Val231Leu missense ADRB1 1 80802 1.23759E-5 40401 0 NA
10-115804618-G-C p.Val243Leu missense ADRB1 2 80790 2.47555E-5 40395 0 NA
10-115804620-G-A p.Val243Val synonymous ADRB1 1 80730 1.2387E-5 40365 0 1.2832E-4
10-115804626-G-A p.Leu245Leu synonymous ADRB1 1 80654 1.23986E-5 40327 0 3.21069E-5
10-115804646-A-G p.Gln252Arg missense ADRB1 2 80214 2.49333E-5 40107 0 4.05255E-6
10-115804655-TGAA-T p.Lys257del disruptive_inframe_deletion ADRB1 2 79758 2.50759E-5 39879 0 NA
10-115804681-C-A p.Arg264Ser missense ADRB1 4 77606 5.15424E-5 38803 0 9.28272E-6
10-115804681-C-T p.Arg264Cys missense ADRB1 1 77606 1.28856E-5 38803 0 NA
10-115804689-C-T p.Leu266Leu synonymous ADRB1 1 76678 1.30416E-5 38339 0 NA
10-115804699-G-A p.Ala270Thr missense ADRB1 315 75190 0.00418939 37595 0 0.00833333
10-115804703-G-A p.Arg271Gln missense ADRB1 1 74592 1.34063E-5 37296 0 NA
10-115804704-G-A p.Arg271Arg synonymous ADRB1 4 74388 5.37721E-5 37194 0 1.70888E-5
10-115804705-C-CCGCCCT p.Ser278_Pro279dup conservative_inframe_insertion ADRB1 53 74254 7.13766E-4 37127 0 6.81818E-4
10-115804705-CCGCCCT-C p.Ser278_Pro279del conservative_inframe_deletion ADRB1 7 74254 9.4271E-5 37127 0 3.78788E-5
10-115804705-CCGCCCTCGCCCT-C p.Ser276_Pro279del conservative_inframe_deletion ADRB1 1 74256 1.34669E-5 37128 0 3.78788E-5
10-115804710-C-G p.Pro273Pro synonymous ADRB1 1 73296 1.36433E-5 36648 0 8.52224E-5
10-115804713-G-T p.Ser274Ser synonymous ADRB1 2 72076 2.77485E-5 36038 0 2.43843E-4
10-115804713-G-A p.Ser274Ser synonymous ADRB1 1 72076 1.38742E-5 36038 0 3.9692E-5
10-115804714-C-T p.Pro275Ser missense ADRB1 7 71802 9.74903E-5 35901 0 8.48608E-5
10-115804715-C-T p.Pro275Leu missense ADRB1 1 71736 1.394E-5 35868 0 3.99425E-5
10-115804718-C-T p.Ser276Leu missense ADRB1 1 70470 1.41904E-5 35235 0 NA
10-115804725-G-GCCCTCA p.Ser278_Pro279dup conservative_inframe_insertion ADRB1 13 64538 2.01432E-4 32269 0 0.00163934
10-115804728-C-G p.Pro279Pro synonymous ADRB1 33 57518 5.73733E-4 28759 0 0.00128991
10-115804728-CG-C p.Val280fs frameshift ADRB1 1 57520 1.73853E-5 28760 0 9.58222E-5
10-115804737-G-C p.Ala282Ala synonymous ADRB1 1 48672 2.05457E-5 24336 0 NA
10-115804762-C-T p.Arg291Cys missense ADRB1 2 34394 5.81497E-5 17197 0 NA
10-115804765-CCCG-C p.Ala297del conservative_inframe_deletion ADRB1 29 34638 8.37231E-4 17319 0 0.00124688
10-115804765-C-CCCGCCG p.Ala296_Ala297dup conservative_inframe_insertion ADRB1 2 35026 5.71004E-5 17513 0 4.07034E-5
10-115804777-G-GCCGCCACCGCCC p.Pro300_Leu301insAlaThrAlaPro disruptive_inframe_insertion ADRB1 1 33446 2.98989E-5 16723 0 NA
10-115804779-C-T p.Ala296Ala synonymous ADRB1 1 35280 2.83447E-5 17640 0 NA
10-115804790-C-A p.Pro300Gln missense ADRB1 2 43378 4.61063E-5 21689 0 7.86968E-5
10-115804802-G-C p.Gly304Ala missense ADRB1 2 53126 3.76464E-5 26563 0 0.00127877
10-115804804-C-A p.Arg305Ser missense ADRB1 1 53824 1.85791E-5 26912 0 3.81185E-5
10-115804816-C-A p.Arg309Arg synonymous ADRB1 1 61988 1.61322E-5 30994 0 0.0026178
10-115804816-C-T p.Arg309Trp missense ADRB1 1 61988 1.61322E-5 30994 0 NA
10-115804819-C-T p.Arg310Trp missense ADRB1 3 63346 4.73589E-5 31673 0 2.20151E-4
10-115804829-G-C p.Arg313Pro missense ADRB1 2 67930 2.94421E-5 33965 0 1.75162E-4
10-115804833-C-T p.Leu314Leu synonymous ADRB1 2 70098 2.85315E-5 35049 0 0.00125
10-115804834-G-T p.Val315Leu missense ADRB1 1 70060 1.42735E-5 35030 0 NA
10-115804843-C-A p.Arg318Ser missense ADRB1 3 72650 4.12939E-5 36325 0 0.0020284
10-115804869-G-A p.Leu326Leu synonymous ADRB1 1 76478 1.30757E-5 38239 0 2.56885E-5
10-115804892-C-T p.Thr334Met missense ADRB1 1 77428 1.29152E-5 38714 0 NA
10-115804915-C-T p.Leu342Leu synonymous ADRB1 1 77538 1.28969E-5 38769 0 1.17437E-5
10-115804926-G-A p.Val345Val synonymous ADRB1 1 77482 1.29062E-5 38741 0 3.37655E-5
10-115804933-G-T p.Ala348Ser missense ADRB1 3 77380 3.87697E-5 38690 0 8.44969E-5
10-115804956-C-A p.Pro355Pro synonymous ADRB1 201 77366 0.00259804 38683 0 0.0020176
10-115804956-C-G p.Pro355Pro synonymous ADRB1 1 77374 1.29242E-5 38687 0 3.40762E-5
10-115804962-C-T p.Arg357Arg synonymous ADRB1 2 77482 2.58124E-5 38741 0 7.49092E-5
10-115804968-C-T p.Phe359Phe synonymous ADRB1 7 77578 9.02318E-5 38789 0 3.76588E-5
10-115804980-C-T p.Asn363Asn synonymous ADRB1 3 77504 3.87077E-5 38752 0 6.84885E-5
10-115804989-C-T p.Gly366Gly synonymous ADRB1 1 77496 1.29039E-5 38748 0 6.25E-4
10-115804997-A-G p.Asn369Ser missense ADRB1 1 77430 1.29149E-5 38715 0 3.44329E-5
10-115805035-G-A p.Asp382Asn missense ADRB1 1 77436 1.29139E-5 38718 0 NA
10-115805036-A-G p.Asp382Gly missense ADRB1 56 77396 7.23552E-4 38698 0 0.00125
10-115805056-G-C p.Gly389Arg missense ADRB1 49461 72694 0.6804 36347 16939 0.737497
10-115805056-GG-CT p.Gly389Leu missense ADRB1 61 77020 7.92002E-4 38510 1 NA
10-115805057-G-T p.Gly389Val missense ADRB1 80 77000 0.00103896 38500 0 0.00447427
10-115805058-A-ACTG p.Leu391dup disruptive_inframe_insertion ADRB1 1 76952 1.29951E-5 38476 0 1.82305E-5
10-115805061-G-C p.Leu390Leu synonymous ADRB1 1 76872 1.30086E-5 38436 0 4.79198E-6
10-115805066-G-A p.Cys392Tyr missense ADRB1 2 76680 2.60824E-5 38340 0 9.60596E-6
10-115805068-T-G p.Cys393Gly missense ADRB1 1 76510 1.30702E-5 38255 0 NA
10-115805070-C-T p.Cys393Cys synonymous ADRB1 1 76366 1.30948E-5 38183 0 5.04541E-4
10-115805072-C-T p.Ala394Val missense ADRB1 1 76244 1.31158E-5 38122 0 NA
10-115805072-C-G p.Ala394Gly missense ADRB1 1 76244 1.31158E-5 38122 0 NA
10-115805073-G-C p.Ala394Ala synonymous ADRB1 1 76232 1.31179E-5 38116 0 NA
10-115805075-G-A p.Arg395His missense ADRB1 4 76182 5.25058E-5 38091 0 1.0968E-4
10-115805075-G-T p.Arg395Leu missense ADRB1 2 76182 2.62529E-5 38091 0 3.38066E-5
10-115805079-G-A p.Arg396Arg synonymous ADRB1 1 76114 1.31382E-5 38057 0 NA
10-115805080-G-A p.Ala397Thr missense ADRB1 2 75932 2.63394E-5 37966 0 2.04315E-5
10-115805105-A-T p.His405Leu missense ADRB1 1 73944 1.35237E-5 36972 0 NA
10-115805106-C-T p.His405His synonymous ADRB1 1 73782 1.35534E-5 36891 0 NA
10-115805107-G-C p.Gly406Arg missense ADRB1 3 73718 4.06956E-5 36859 0 0.00101317
10-115805114-G-C p.Arg408Pro missense ADRB1 1 72294 1.38324E-5 36147 0 3.32557E-5
10-115805127-G-C p.Ser412Ser synonymous ADRB1 6 71026 8.44761E-5 35513 0 1.13817E-4
10-115805130-C-G p.Gly413Gly synonymous ADRB1 20 70844 2.8231E-4 35422 0 6.60371E-4
10-115805141-G-A p.Arg417Gln missense ADRB1 1 66396 1.50611E-5 33198 0 NA
10-115805146-G-A p.Gly419Arg missense ADRB1 4 64830 6.16998E-5 32415 0 3.29707E-5
10-115805150-C-A p.Pro420His missense ADRB1 2 64656 3.09329E-5 32328 0 NA
10-115805157-A-T p.Pro422Pro synonymous ADRB1 1 64308 1.55502E-5 32154 0 NA
10-115805172-C-T p.Ala427Ala synonymous ADRB1 1 63914 1.5646E-5 31957 0 NA
10-115805175-GGAC-G p.Asp434del disruptive_inframe_deletion ADRB1 7 63676 1.09932E-4 31838 0 8.60882E-4
10-115805175-GGACGAC-G p.Asp433_Asp434del disruptive_inframe_deletion ADRB1 4 63814 6.26822E-5 31907 0 3.29728E-5
10-115805175-G-C p.Ser428Ser synonymous ADRB1 1 63814 1.56705E-5 31907 0 NA
10-115805175-G-GGAC p.Asp434dup disruptive_inframe_insertion ADRB1 4 63814 6.26822E-5 31907 0 1.64864E-4
10-115805175-G-GGACGAC p.Asp433_Asp434dup disruptive_inframe_insertion ADRB1 2 63814 3.13411E-5 31907 0 NA
10-115805178-C-A p.Asp429Glu missense ADRB1 1 63726 1.56922E-5 31863 0 3.3036E-5
10-115805188-G-A p.Asp433Asn missense ADRB1 1 63832 1.56661E-5 31916 0 NA
10-115805190-CGAT-C p.Asp434del disruptive_inframe_deletion ADRB1 4 63868 6.26292E-5 31934 0 1.30839E-4
10-115805190-C-T p.Asp433Asp synonymous ADRB1 1 63868 1.56573E-5 31934 0 NA
10-115805191-G-A p.Asp434Asn missense ADRB1 1 63880 1.56544E-5 31940 0 NA
10-115805192-A-T p.Asp434Val missense ADRB1 1 63830 1.56666E-5 31915 0 6.64011E-4
10-115805197-G-T p.Val436Phe missense ADRB1 3 63754 4.70559E-5 31877 0 6.53937E-5
10-115805201-G-A p.Gly437Glu missense ADRB1 1 63996 1.5626E-5 31998 0 NA
10-115805208-G-A p.Thr439Thr synonymous ADRB1 80 63816 0.0012536 31908 1 0.00516755
10-115805209-C-A p.Pro440Thr missense ADRB1 1 63930 1.56421E-5 31965 0 NA
10-115805211-G-T p.Pro440Pro synonymous ADRB1 3 63846 4.69881E-5 31923 0 9.11854E-4
10-115805217-G-T p.Ala442Ala synonymous ADRB1 5 64048 7.80664E-5 32024 0 1.30259E-4
10-115805220-C-T p.Arg443Arg synonymous ADRB1 1 64312 1.55492E-5 32156 0 NA
10-115805223-G-T p.Leu444Leu synonymous ADRB1 1 64642 1.54698E-5 32321 0 NA
10-115805230-C-G p.Pro447Ala missense ADRB1 6 65616 9.14411E-5 32808 0 1.29676E-4
10-115805238-C-G p.Ala449Ala synonymous ADRB1 156 66156 0.00235806 33078 1 0.00892857
10-115805238-C-T p.Ala449Ala synonymous ADRB1 1 66180 1.51103E-5 33090 0 NA
10-115805248-G-T p.Gly453Cys missense ADRB1 2 66948 2.98739E-5 33474 0 NA
10-115805257-G-C p.Ala456Pro missense ADRB1 2 65860 3.03674E-5 32930 0 NA
10-115805259-G-A p.Ala456Ala synonymous ADRB1 7 65466 1.06926E-4 32733 0 3.28228E-4
10-115805263-G-T p.Asp458Tyr missense ADRB1 1 66080 1.51332E-5 33040 0 NA
10-115805268-C-A p.Ser459Arg missense ADRB1 1 66544 1.50277E-5 33272 0 NA
10-115805273-C-T p.Ser461Leu missense ADRB1 4 67970 5.88495E-5 33985 0 7.6558E-5
10-115805274-G-C p.Ser461Ser synonymous ADRB1 3 68044 4.40891E-5 34022 0 3.36519E-5
10-115805278-C-T p.Leu463Leu synonymous ADRB1 1 69134 1.44647E-5 34567 0 NA
10-115805283-C-T p.Asp464Asp synonymous ADRB1 1 69602 1.43674E-5 34801 0 NA
10-115805286-G-A p.Glu465Glu synonymous ADRB1 7 69998 1.00003E-4 34999 0 1.59371E-4
10-115805287-C-A p.Pro466Thr missense ADRB1 4 70064 5.70907E-5 35032 0 NA
10-115805293-C-T p.Arg468Cys missense ADRB1 1 70730 1.41383E-5 35365 0 NA
10-115805294-G-T p.Arg468Leu missense ADRB1 1 70794 1.41255E-5 35397 0 NA
10-115805295-C-T p.Arg468Arg synonymous ADRB1 1 70932 1.4098E-5 35466 0 NA
10-115805295-C-A p.Arg468Arg synonymous ADRB1 1 70932 1.4098E-5 35466 0 NA
10-115805299-G-A p.Gly470Ser missense ADRB1 1 71028 1.4079E-5 35514 0 5.35619E-5
10-115805300-G-C p.Gly470Ala missense ADRB1 17 71160 2.38898E-4 35580 0 8.26282E-4
10-115805309-C-G p.Ser473Trp missense ADRB1 2 71866 2.78296E-5 35933 0 NA