Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-26606053-C-A p.Asp366Tyr missense ADRA1A 96 6156 0.0155945 3078 2 0.0735294
8-26606067-C-A p.Gly361Val missense ADRA1A 1 6620 1.51057E-4 3310 0 NA
8-26606080-A-G p.Phe357Leu missense ADRA1A 1 6826 1.46499E-4 3413 0 NA
8-26606085-G-A p.Thr355Met missense ADRA1A 1 6788 1.47319E-4 3394 0 6.45111E-5
8-26606102-A-C p.Phe349Leu missense ADRA1A 1 6914 1.44634E-4 3457 0 6.4317E-5
8-26606113-GGGCCTGGTGGCGTC-G p.Asp470fs frameshift ADRA1A 7 6948 0.00100748 3474 0 8.726E-4
8-26606125-G-A p.Arg342Cys missense ADRA1A 5 6966 7.17772E-4 3483 0 2.22204E-4
8-26606128-G-A p.Arg341* stop_gained ADRA1A 2 6952 2.87687E-4 3476 0 1.29416E-4
8-26606144-C-A p.Gly464Val missense ADRA1A 3 7048 4.25653E-4 3524 0 2.88943E-4
8-26606186-CTT-C p.Asp451fs frameshift ADRA1A 1 7122 1.4041E-4 3561 0 NA
8-26606198-A-T p.Leu446His missense ADRA1A 98 7046 0.0139086 3523 5 0.0271859
8-26606218-C-G p.Leu439Phe missense ADRA1A 1 7294 1.37099E-4 3647 0 NA
8-26606219-A-G p.Leu439Ser missense ADRA1A 1 7304 1.36911E-4 3652 0 NA
8-26606221-G-A p.Leu310Phe missense ADRA1A 1 7376 1.35575E-4 3688 0 NA
8-26606231-C-T p.Ser435Asn missense ADRA1A 1 7388 1.35355E-4 3694 0 6.53894E-5
8-26606238-C-G p.Glu433Gln missense ADRA1A 4 7464 5.35906E-4 3732 0 7.04358E-4
8-26606255-C-A p.Arg427Leu missense ADRA1A 586 7496 0.078175 3748 27 0.118644
8-26606260-C-A p.Lys425Asn missense ADRA1A 1 7782 1.28502E-4 3891 0 NA
8-26606264-G-A p.Thr424Met missense+splice_region ADRA1A 15 7754 0.00193449 3877 0 0.00247525
8-26606267-TA-T c.1270-3delT splice_region ADRA1A 484 7340 0.0659401 3670 10 0.272129
8-26606267-TAA-T c.1270-4_1270-3delTT splice_region ADRA1A 211 7802 0.0270443 3901 0 0.116496
8-26606267-TAAA-T c.1270-5_1270-3delTTT splice_region ADRA1A 39 7868 0.00495679 3934 0 0.036496
8-26606267-T-TA c.1270-3_1270-2insT splice_region ADRA1A 140 7804 0.0179395 3902 0 0.0957412
8-26606267-T-TAAA c.1270-3_1270-2insTTT splice_region ADRA1A 1 7874 1.27E-4 3937 0 NA
8-26606267-T-TAA c.1270-3_1270-2insTT splice_region ADRA1A 13 7864 0.0016531 3932 0 0.0139084
8-26606267-TAAAA-T c.1270-6_1270-3delTTTT splice_region ADRA1A 4 7876 5.07872E-4 3938 0 0.00792453
8-26606267-T-TAAAA c.1270-3_1270-2insTTTT splice_region ADRA1A 2 7876 2.53936E-4 3938 0 NA
8-26614061-T-C p.Ter373Ter splice_region ADRA1A 1 80442 1.24313E-5 40221 0 NA
8-26614069-C-T p.Val371Ile missense ADRA1A 1 80590 1.24085E-5 40295 0 NA
8-26614072-T-C p.Thr370Ala missense ADRA1A 1 80682 1.23943E-5 40341 0 3.1841E-5
8-26614080-G-C p.Thr367Arg missense ADRA1A 1 80854 1.2368E-5 40427 0 1.28126E-5
8-26614082-A-G p.Asp366Asp synonymous ADRA1A 2 80914 2.47176E-5 40457 0 NA
8-26614083-T-A p.Asp366Val missense ADRA1A 4 80938 4.94205E-5 40469 0 5.29325E-5
8-26614085-A-T p.Thr365Thr synonymous ADRA1A 9 81016 1.11089E-4 40508 0 3.14169E-4
8-26614086-G-A p.Thr365Ile missense ADRA1A 1 81042 1.23393E-5 40521 0 7.82065E-4
8-26614093-T-C p.Thr363Ala missense ADRA1A 1 81280 1.23031E-5 40640 0 NA
8-26614108-G-T p.Gln358Lys missense ADRA1A 1 81776 1.22285E-5 40888 0 3.18471E-5
8-26614116-G-C p.Thr355Ser missense ADRA1A 1 81960 1.22011E-5 40980 0 4.2416E-5
8-26614122-T-C p.His353Arg missense ADRA1A 1 82092 1.21815E-5 41046 0 3.18471E-5
8-26614124-G-T p.Ile352Ile synonymous ADRA1A 1 82132 1.21755E-5 41066 0 NA
8-26614125-A-G p.Ile352Thr missense ADRA1A 2 82174 2.43386E-5 41087 0 NA
8-26614138-A-G p.Ser348Pro missense ADRA1A 105 82328 0.00127539 41164 1 0.00264365
8-26614162-G-A p.Pro340Ser missense ADRA1A 1 82534 1.21162E-5 41267 0 NA
8-26614163-C-A p.Glu339Asp missense ADRA1A 1 82542 1.2115E-5 41271 0 NA
8-26614174-C-T p.Gly336Arg missense ADRA1A 1 82546 1.21145E-5 41273 0 3.27225E-5
8-26614177-G-C p.Pro335Ala missense ADRA1A 1 82584 1.21089E-5 41292 0 1.6593E-5
8-26614177-G-A p.Pro335Ser missense ADRA1A 1 82582 1.21092E-5 41291 0 4.14824E-6
8-26614186-C-G p.Glu332Gln missense ADRA1A 1 82632 1.21018E-5 41316 0 4.06861E-6
8-26614193-C-T p.Leu329Leu synonymous ADRA1A 3 82644 3.63003E-5 41322 0 NA
8-26614195-G-A p.Leu329Leu synonymous ADRA1A 1 82660 1.20978E-5 41330 0 3.18471E-5
8-26614201-C-T p.Asp327Asn missense ADRA1A 73 82676 8.82965E-4 41338 0 7.77907E-4
8-26614202-G-A p.Cys326Cys synonymous ADRA1A 8 82668 9.67726E-5 41334 0 0.00125
8-26614203-C-T p.Cys326Tyr missense ADRA1A 1 82698 1.20922E-5 41349 0 3.18492E-5
8-26614207-A-G p.Ser325Pro missense ADRA1A 2 82732 2.41744E-5 41366 0 0.003125
8-26614217-G-A p.Thr321Thr synonymous ADRA1A 2 82854 2.41388E-5 41427 0 NA
8-26614226-C-T p.Glu318Glu synonymous ADRA1A 305 82902 0.00367904 41451 6 0.00394955
8-26614229-C-T p.Gly317Gly synonymous ADRA1A 1 82960 1.2054E-5 41480 0 NA
8-26614231-C-A p.Gly317Trp missense ADRA1A 1 82984 1.20505E-5 41492 0 NA
8-26614232-T-A p.Glu316Asp missense ADRA1A 3 82988 3.61498E-5 41494 0 3.18512E-5
8-26614232-T-C p.Glu316Glu synonymous ADRA1A 1 82988 1.20499E-5 41494 0 NA
8-26614248-G-C p.Ser311Cys missense ADRA1A 6 83102 7.22004E-5 41551 0 6.36983E-5
8-26614253-C-T p.Leu309Leu synonymous ADRA1A 1 83148 1.20267E-5 41574 0 3.97994E-6
8-26614257-C-T p.Arg308Gln missense ADRA1A 5 83152 6.01308E-5 41576 0 7.45675E-5
8-26614258-G-A p.Arg308* stop_gained ADRA1A 6 83162 7.21483E-5 41581 1 6.25E-4
8-26614263-C-T p.Arg306His missense ADRA1A 6 83174 7.21379E-5 41587 0 3.97988E-5
8-26614264-G-A p.Arg306Cys missense ADRA1A 1 83186 1.20213E-5 41593 0 9.09783E-5
8-26614276-T-C p.Ter430Trpext*? stop_lost ADRA1A 1 83242 1.20132E-5 41621 0 3.97997E-6
8-26614277-C-T p.Met301Ile missense ADRA1A 4 83240 4.80538E-5 41620 0 3.30491E-5
8-26614293-G-A p.Thr296Ile missense ADRA1A 1 83250 1.2012E-5 41625 0 NA
8-26614633-A-G p.Ser425Ser synonymous ADRA1A 1 18596 5.3775E-5 9298 0 NA
8-26623563-GGAGAT-G p.Ter456fs frameshift ADRA1A 2 82584 2.42178E-5 41292 0 NA
8-26623569-C-G p.Ter456Serext*? stop_lost ADRA1A 1 82646 1.20998E-5 41323 0 NA
8-26623577-T-C p.Ser453Ser synonymous ADRA1A 1 82718 1.20893E-5 41359 0 3.18431E-5
8-26623592-C-T p.Pro448Pro synonymous ADRA1A 4 82800 4.83092E-5 41400 0 5.03525E-4
8-26623593-G-A p.Pro448Leu missense ADRA1A 4 82806 4.83057E-5 41403 0 2.86752E-4
8-26623599-A-G p.Met446Thr missense ADRA1A 2 82872 2.41336E-5 41436 0 NA
8-26623612-C-G p.Val442Leu missense ADRA1A 1 82946 1.2056E-5 41473 0 NA
8-26623614-T-G p.His441Pro missense ADRA1A 5 82962 6.02686E-5 41481 0 1.59205E-4
8-26623641-G-A p.Thr432Ile missense ADRA1A 2 82980 2.41022E-5 41490 0 6.25E-4
8-26623647-T-A p.Tyr430Phe missense ADRA1A 4 82962 4.82148E-5 41481 0 5.03525E-4
8-26623651-T-A p.Arg429* stop_gained ADRA1A 1 82968 1.20528E-5 41484 0 8.25178E-6
8-26623662-C-T p.Gly425Glu missense ADRA1A 4 82904 4.82486E-5 41452 0 NA
8-26623672-C-T c.1270-6G>A splice_region ADRA1A 1 82844 1.20709E-5 41422 0 NA
8-26627672-T-A p.Glu465Asp missense ADRA1A 2412 83158 0.029005 41579 38 0.0362439
8-26627672-T-C p.Glu465Glu synonymous ADRA1A 2 83224 2.40315E-5 41612 0 3.18634E-5
8-26627681-G-A p.Asn462Asn synonymous ADRA1A 8 83256 9.60892E-5 41628 0 1.91797E-4
8-26627683-T-C p.Asn462Asp missense ADRA1A 1 83272 1.20088E-5 41636 0 NA
8-26627698-T-C p.Ile457Val missense ADRA1A 1 83308 1.20036E-5 41654 0 NA
8-26627711-A-G p.Ile452Ile synonymous ADRA1A 2 83324 2.40027E-5 41662 0 8.93671E-6
8-26627714-G-T p.Thr451Thr synonymous ADRA1A 1 83336 1.19996E-5 41668 0 8.43163E-6
8-26627718-G-A p.Pro450Leu missense ADRA1A 2 83338 2.39987E-5 41669 0 NA
8-26627723-T-A p.Gln448His missense ADRA1A 2 83334 2.39998E-5 41667 0 1.24322E-5
8-26627729-G-T p.Asn446Lys missense ADRA1A 1 83342 1.19988E-5 41671 0 3.18471E-5
8-26627738-A-G p.Leu443Leu synonymous ADRA1A 1 83338 1.19993E-5 41669 0 3.1841E-5
8-26627746-G-C p.Pro441Ala missense ADRA1A 4 83336 4.79985E-5 41668 0 8.02562E-6
8-26627747-G-T p.Thr440Thr synonymous ADRA1A 8 83340 9.59923E-5 41670 0 3.6104E-5
8-26627748-G-T p.Thr440Asn missense ADRA1A 2 83334 2.39998E-5 41667 0 NA
8-26627756-C-A p.Gly437Gly synonymous ADRA1A 64 83324 7.68086E-4 41662 0 0.0025
8-26627770-A-G p.Cys433Arg missense ADRA1A 1 83338 1.19993E-5 41669 0 3.3384E-5
8-26627776-G-A p.Gln431* stop_gained ADRA1A 2 83338 2.39987E-5 41669 0 1.59337E-4
8-26627778-A-G p.Leu430Ser missense ADRA1A 1 83330 1.20005E-5 41665 0 8.28858E-6
8-26627788-T-A p.Lys427* stop_gained ADRA1A 1 83310 1.20034E-5 41655 0 NA
8-26627791-T-C p.Ser426Gly missense ADRA1A 2 83312 2.40061E-5 41656 0 NA
8-26627793-C-T p.Arg425Lys missense ADRA1A 2 83314 2.40056E-5 41657 0 6.36902E-5
8-26627798-C-T p.Arg423Arg splice_region+synonymous ADRA1A 1 83296 1.20054E-5 41648 0 3.97823E-6
8-26627799-C-T p.Arg423Gln missense+splice_region ADRA1A 1 83296 1.20054E-5 41648 0 2.78481E-5
8-26627800-G-A p.Arg423Trp missense+splice_region ADRA1A 4 83300 4.80192E-5 41650 0 3.97814E-6
8-26627803-C-T p.Ala422Thr missense ADRA1A 3 83298 3.60153E-5 41649 0 6.37024E-5
8-26627819-T-C p.Gln416Gln synonymous ADRA1A 2 83262 2.40206E-5 41631 0 NA
8-26627826-T-C p.Lys414Arg missense ADRA1A 4 83250 4.8048E-5 41625 0 NA
8-26627844-G-C p.Ala408Gly missense ADRA1A 2 83236 2.40281E-5 41618 0 6.37064E-5
8-26627853-C-T p.Arg405His missense ADRA1A 5 83218 6.00832E-5 41609 0 5.76587E-5
8-26627854-G-A p.Arg405Cys missense ADRA1A 2 83218 2.40333E-5 41609 0 2.47113E-5
8-26627860-T-C p.Met403Val missense ADRA1A 1 83224 1.20158E-5 41612 0 1.64739E-5
8-26627864-A-C p.Ser401Ser synonymous ADRA1A 18 83214 2.1631E-4 41607 0 0.0012738
8-26627872-A-G p.Phe399Leu missense ADRA1A 1 83200 1.20192E-5 41600 0 NA
8-26627887-C-T p.Val394Ile missense ADRA1A 18 83186 2.16383E-4 41593 0 0.00375
8-26627888-G-C p.Gly393Gly synonymous ADRA1A 2 83190 2.40414E-5 41595 0 6.37024E-5
8-26627893-C-T p.Asp392Asn missense ADRA1A 4 83170 4.80943E-5 41585 0 5.03525E-4
8-26627894-C-T p.Thr391Thr synonymous ADRA1A 22 83172 2.64512E-4 41586 0 6.25E-4
8-26627895-G-A p.Thr391Met missense ADRA1A 21 83168 2.52501E-4 41584 0 0.00151057
8-26627920-C-G p.Glu383Gln missense ADRA1A 1 83152 1.20262E-5 41576 0 NA
8-26627932-C-T p.Val379Met missense ADRA1A 1 83130 1.20294E-5 41565 0 3.29457E-5
8-26627932-C-A p.Val379Leu missense ADRA1A 1 83130 1.20294E-5 41565 0 3.29457E-5
8-26627933-G-A p.Pro378Pro synonymous ADRA1A 5 83128 6.01482E-5 41564 0 4.77407E-5
8-26627936-G-T p.Ile377Ile synonymous ADRA1A 2 83126 2.40599E-5 41563 0 8.23642E-6
8-26627940-C-T p.Arg376His missense ADRA1A 3 83092 3.61046E-5 41546 0 3.18289E-5
8-26627940-C-A p.Arg376Leu missense ADRA1A 1 83092 1.20349E-5 41546 0 3.97861E-6
8-26627944-C-A p.Val375Leu missense ADRA1A 41 83094 4.93417E-4 41547 0 0.00124188
8-26627944-C-T p.Val375Met missense ADRA1A 2 83094 2.40691E-5 41547 0 NA
8-26627947-T-C p.Met374Val missense ADRA1A 3 83112 3.60959E-5 41556 0 8.23669E-6
8-26627960-C-T p.Gly369Gly synonymous ADRA1A 1 83100 1.20337E-5 41550 0 NA
8-26627968-C-T p.Val367Met missense ADRA1A 4 83104 4.81325E-5 41552 0 9.06051E-5
8-26627968-C-G p.Val367Leu missense ADRA1A 1 83104 1.20331E-5 41552 0 7.95754E-6
8-26627969-G-A p.Ala366Ala synonymous ADRA1A 1 83104 1.20331E-5 41552 0 1.98931E-5
8-26627969-G-T p.Ala366Ala synonymous ADRA1A 1 83104 1.20331E-5 41552 0 1.19358E-5
8-26627981-C-T p.Pro362Pro synonymous ADRA1A 2 83118 2.40622E-5 41559 0 3.97924E-6
8-26627982-G-A p.Pro362Leu missense ADRA1A 2 83122 2.4061E-5 41561 0 5.03525E-4
8-26627984-G-A p.His361His synonymous ADRA1A 13 83122 1.56397E-4 41561 0 2.54793E-4
8-26627993-G-A p.Tyr358Tyr synonymous ADRA1A 27 83136 3.24769E-4 41568 0 0.0020141
8-26627998-C-T p.Gly357Ser missense ADRA1A 2 83144 2.40547E-5 41572 0 7.41314E-5
8-26627999-C-T p.Leu356Leu synonymous ADRA1A 2 83150 2.40529E-5 41575 0 3.18552E-5
8-26628002-G-C p.Ala355Ala synonymous ADRA1A 1 83160 1.2025E-5 41580 0 1.64734E-5
8-26628003-G-T p.Ala355Asp missense ADRA1A 1 83154 1.20259E-5 41577 0 2.47101E-5
8-26628010-T-G p.Lys353Gln missense ADRA1A 2 83184 2.40431E-5 41592 0 NA
8-26628017-C-G p.Gln350His missense ADRA1A 2 83202 2.40379E-5 41601 0 NA
8-26628022-T-C p.Lys349Glu missense ADRA1A 2 83202 2.40379E-5 41601 0 NA
8-26628027-C-T p.Cys347Tyr missense ADRA1A 2 83210 2.40356E-5 41605 0 0.00125
8-26628027-CAG-C p.Cys347fs frameshift ADRA1A 20 83208 2.40362E-4 41604 0 2.6357E-4
8-26628027-CA-TG p.Cys347His missense ADRA1A 1 83210 1.20178E-5 41605 0 NA
8-26628028-A-G p.Cys347Arg missense ADRA1A 42969 82774 0.519112 41387 11467 0.579053
8-26628046-A-G p.Leu341Leu synonymous ADRA1A 1 83234 1.20143E-5 41617 0 1.27389E-4
8-26628071-C-T p.Glu332Glu synonymous ADRA1A 17 83232 2.04248E-4 41616 0 1.59408E-4
8-26628089-G-A p.Tyr326Tyr synonymous ADRA1A 2 83222 2.40321E-5 41611 0 1.98937E-5
8-26628095-G-C p.Ile324Met missense ADRA1A 1 83230 1.20149E-5 41615 0 NA
8-26628097-T-G p.Ile324Leu missense ADRA1A 3 83236 3.60421E-5 41618 0 NA
8-26628120-T-C p.Tyr316Cys missense ADRA1A 1 83236 1.2014E-5 41618 0 8.28775E-6
8-26628124-C-T p.Gly315Arg missense ADRA1A 1 83244 1.20129E-5 41622 0 6.63757E-5
8-26628125-G-A p.Leu314Leu synonymous ADRA1A 1 83244 1.20129E-5 41622 0 3.18532E-5
8-26628136-C-A p.Val311Leu missense ADRA1A 1 83232 1.20146E-5 41616 0 NA
8-26628140-T-C p.Lys309Lys synonymous ADRA1A 1 83238 1.20137E-5 41619 0 8.33834E-6
8-26628141-T-C p.Lys309Arg missense ADRA1A 1 83236 1.2014E-5 41618 0 NA
8-26628152-T-G p.Glu305Asp missense ADRA1A 3 83232 3.60438E-5 41616 0 8.40492E-6
8-26628153-T-A p.Glu305Val missense ADRA1A 1 83226 1.20155E-5 41613 0 NA
8-26628160-G-A p.Pro303Ser missense ADRA1A 3 83202 3.60568E-5 41601 0 NA
8-26628161-C-T p.Lys302Lys synonymous ADRA1A 2 83196 2.40396E-5 41598 0 2.53485E-5
8-26628172-G-A p.Pro299Ser missense ADRA1A 1 83146 1.2027E-5 41573 0 NA
8-26628187-G-C c.884-4C>G splice_region ADRA1A 7 83022 8.4315E-5 41511 0 4.46002E-4
8-26636820-G-A p.Asp337Asp synonymous ADRA1A 2 59480 3.36247E-5 29740 0 NA
8-26636826-C-T p.Arg335Arg synonymous ADRA1A 1 59492 1.6809E-5 29746 0 NA
8-26636855-C-G p.Glu326Gln missense ADRA1A 1 59506 1.6805E-5 29753 0 6.36943E-5
8-26636870-C-A p.Gly321Trp missense ADRA1A 2 59498 3.36146E-5 29749 0 0.00125
8-26636871-C-T p.Leu320Leu synonymous ADRA1A 2 59504 3.36112E-5 29752 0 8.0333E-5
8-26636881-G-A p.Ala317Val missense ADRA1A 1 59500 1.68067E-5 29750 0 NA
8-26636882-C-T p.Ala317Thr missense ADRA1A 182 59490 0.00305934 29745 1 0.0025
8-26636893-G-C p.Pro313Arg missense ADRA1A 2 59494 3.36168E-5 29747 0 0.00125
8-26636894-G-A p.Pro313Ser missense ADRA1A 1 59490 1.68095E-5 29745 0 1.46278E-5
8-26636897-G-A p.Gln312* stop_gained ADRA1A 2 59488 3.36202E-5 29744 0 3.53207E-4
8-26636898-T-C p.Lys311Lys synonymous ADRA1A 130 59486 0.00218539 29743 1 0.00334267
8-26636906-T-A p.Ser309Cys missense ADRA1A 8450 59206 0.142722 29603 668 0.18441
8-26636909-G-C p.Pro308Ala missense ADRA1A 1 59448 1.68214E-5 29724 0 NA
8-26636915-C-A p.Asp306Tyr missense ADRA1A 2 59424 3.36564E-5 29712 0 NA
8-26636917-T-C p.Asn305Ser missense ADRA1A 4 59402 6.73378E-5 29701 0 3.1839E-5
8-26636918-T-C p.Asn305Asp missense ADRA1A 940 59370 0.0158329 29685 12 0.0171942
8-26636925-T-C p.Glu302Glu synonymous ADRA1A 27294 55958 0.487759 27979 6481 0.54784
8-26636946-A-C p.Asp295Glu missense+splice_region ADRA1A 1 59110 1.69176E-5 29555 0 NA
8-26716544-C-T c.*82+5G>A splice_region ADRA1A 26 76222 3.41109E-4 38111 0 4.14145E-4
8-26716633-A-G p.Ter325Argext*? stop_lost ADRA1A 30 76888 3.90178E-4 38444 0 0.00677507
8-26716642-T-C p.Ile322Val missense ADRA1A 3217 76840 0.0418662 38420 87 0.058125
8-26716655-C-T p.Arg317Arg synonymous ADRA1A 144 76898 0.00187261 38449 1 0.00155891
8-26716657-G-A p.Arg317Trp missense ADRA1A 2 76900 2.60078E-5 38450 0 7.21803E-6
8-26716673-C-T p.Ser311Ser synonymous ADRA1A 10 76904 1.30032E-4 38452 0 3.96379E-4
8-26716674-G-A p.Ser311Leu missense ADRA1A 2 76904 2.60064E-5 38452 0 2.16232E-5
8-26716680-C-T p.Gly309Glu missense ADRA1A 3 76904 3.90097E-5 38452 0 6.64894E-5
8-26716695-A-G p.Leu304Pro missense ADRA1A 1 76892 1.30053E-5 38446 0 NA
8-26716699-C-T p.Val303Met missense ADRA1A 88 76888 0.00114452 38444 0 0.00149662
8-26716700-G-A p.Asp302Asp synonymous ADRA1A 14 76886 1.82088E-4 38443 0 6.25782E-4
8-26716700-G-T p.Asp302Glu missense ADRA1A 1 76886 1.30063E-5 38443 0 0.00125078
8-26716703-A-G p.Tyr301Tyr synonymous ADRA1A 3 76888 3.90178E-5 38444 0 7.35491E-4
8-26716706-T-G p.Lys300Asn missense ADRA1A 1 76880 1.30073E-5 38440 0 NA
8-26716715-G-A p.Tyr297Tyr synonymous ADRA1A 10948 76396 0.143306 38198 774 0.151361
8-26716715-GT-AG p.Tyr297Ser missense ADRA1A 1 76872 1.30086E-5 38436 0 NA
8-26716716-T-G p.Tyr297Ser missense ADRA1A 1 76870 1.3009E-5 38435 0 3.1839E-5
8-26716726-G-T c.884-4C>A splice_region ADRA1A 1 76832 1.30154E-5 38416 0 NA
8-26716730-A-G c.884-8T>C splice_region ADRA1A 1 76814 1.30185E-5 38407 0 NA
8-26721602-A-G c.883+2T>C splice_donor ADRA1A 2 81494 2.45417E-5 40747 0 8.78225E-6
8-26721603-C-G c.883+1G>C splice_donor ADRA1A 6 81554 7.35709E-5 40777 0 4.46059E-4
8-26721603-C-A c.883+1G>T splice_donor ADRA1A 1 81554 1.22618E-5 40777 0 8.77054E-6
8-26721604-C-T p.Gly295Arg missense+splice_region ADRA1A 1 81574 1.22588E-5 40787 0 8.7509E-6
8-26721610-G-A p.Pro293Ser missense ADRA1A 23 81710 2.81483E-4 40855 0 0.00352467
8-26721613-T-C p.Met292Val missense ADRA1A 1 81864 1.22154E-5 40932 0 NA
8-26721617-TAAGAAA-T p.Phe288_Phe289del disruptive_inframe_deletion ADRA1A 1 82058 1.21865E-5 41029 0 NA
8-26721639-A-G p.Leu283Pro missense ADRA1A 1 82774 1.20811E-5 41387 0 NA
8-26721659-G-A p.Ile276Ile synonymous ADRA1A 1 82962 1.20537E-5 41481 0 1.65684E-5
8-26721664-C-T p.Gly275Ser missense ADRA1A 2 83006 2.40946E-5 41503 0 4.13955E-5
8-26721668-C-A p.Thr273Thr synonymous ADRA1A 114 83012 0.0013733 41506 0 0.0020141
8-26721677-C-T p.Ala270Ala synonymous ADRA1A 3 83058 3.61193E-5 41529 0 3.98029E-6
8-26721683-C-A p.Lys268Asn missense ADRA1A 1 83122 1.20305E-5 41561 0 3.97991E-6
8-26721691-G-A p.Arg266Trp missense ADRA1A 1 83150 1.20265E-5 41575 0 3.97953E-6
8-26721695-G-C p.Phe264Leu missense ADRA1A 1 83146 1.2027E-5 41573 0 NA
8-26721703-G-A p.Leu262Phe missense ADRA1A 1 83164 1.20244E-5 41582 0 8.26597E-6
8-26721704-G-C p.Leu261Leu synonymous ADRA1A 1 83168 1.20239E-5 41584 0 NA
8-26721713-T-G p.Ser258Ser synonymous ADRA1A 1 83192 1.20204E-5 41596 0 NA
8-26721724-T-A p.Thr255Ser missense ADRA1A 1 83200 1.20192E-5 41600 0 8.2616E-6
8-26721728-G-C p.Thr253Thr synonymous ADRA1A 1 83194 1.20201E-5 41597 0 8.26214E-6
8-26721743-C-G p.Met248Ile missense ADRA1A 1 83192 1.20204E-5 41596 0 NA
8-26721744-A-G p.Met248Thr missense ADRA1A 4 83188 4.80839E-5 41594 0 3.1841E-5
8-26721748-C-T p.Gly247Arg missense ADRA1A 224 83176 0.00269308 41588 6 0.0066968
8-26721750-C-T p.Ser246Asn missense ADRA1A 10 83174 1.2023E-4 41587 0 3.18431E-4
8-26721761-C-T p.Pro242Pro synonymous ADRA1A 1 83162 1.20247E-5 41581 0 7.95931E-6
8-26721762-G-A p.Pro242Leu missense ADRA1A 14 83152 1.68366E-4 41576 1 6.25E-4
8-26721764-G-T p.Ala241Ala synonymous ADRA1A 153 83174 0.00183952 41587 1 0.00755287
8-26721775-G-A p.Arg238Trp missense ADRA1A 1 83128 1.20296E-5 41564 0 8.27253E-6
8-26721781-T-C p.Ile236Val missense ADRA1A 1 83140 1.20279E-5 41570 0 NA
8-26721787-G-A p.Leu234Phe missense ADRA1A 1 83094 1.20346E-5 41547 0 NA
8-26721806-C-CGACTTGTCGGTCTTGAGGCCA p.Ser227_Asp228insGlyLeuLysThrAspLysSer disruptive_inframe_insertion ADRA1A 1 83006 1.20473E-5 41503 0 3.98715E-6
8-26721808-A-G p.Ser227Pro missense ADRA1A 112 82996 0.00134946 41498 0 0.00553877
8-26721814-C-G p.Asp225His missense ADRA1A 6 82980 7.23066E-5 41490 0 5.18358E-5
8-26721814-C-A p.Asp225Tyr missense ADRA1A 1 82980 1.20511E-5 41490 0 NA
8-26721817-TCTTGAGGCCAGA-T p.Ser220_Lys223del conservative_inframe_deletion ADRA1A 1 82970 1.20525E-5 41485 0 NA
8-26721821-G-A p.Leu222Leu synonymous ADRA1A 2 82998 2.4097E-5 41499 0 6.36943E-5
8-26721828-G-A p.Ser220Phe missense ADRA1A 1 82976 1.20517E-5 41488 0 3.1841E-5
8-26721841-G-C p.Arg216Gly missense ADRA1A 7 82932 8.44065E-5 41466 0 2.49563E-4
8-26721843-C-G p.Ser215Thr missense ADRA1A 1 82930 1.20584E-5 41465 0 NA
8-26721858-A-G p.Val210Ala missense ADRA1A 1 82944 1.20563E-5 41472 0 NA
8-26721863-G-A p.Tyr208Tyr synonymous ADRA1A 1 82942 1.20566E-5 41471 0 NA
8-26721871-G-T p.Arg206Ser missense ADRA1A 2 82930 2.41167E-5 41465 0 NA
8-26721872-G-A p.Cys205Cys synonymous ADRA1A 1 82936 1.20575E-5 41468 0 8.33153E-6
8-26721886-G-A p.Leu201Leu synonymous ADRA1A 2 82950 2.41109E-5 41475 0 8.33236E-5
8-26721888-A-C p.Ile200Ser missense ADRA1A 1717 82934 0.0207032 41467 26 0.025995
8-26721905-G-A p.Tyr194Tyr synonymous ADRA1A 2 82872 2.41336E-5 41436 0 3.99632E-6
8-26721905-G-C p.Tyr194* stop_gained ADRA1A 1 82872 1.20668E-5 41436 0 NA
8-26721907-A-T p.Tyr194Asn missense ADRA1A 1 82832 1.20726E-5 41416 0 NA
8-26721913-A-G p.Ser192Pro missense ADRA1A 2 82806 2.41528E-5 41403 0 1.67205E-5
8-26721915-C-A p.Gly191Val missense ADRA1A 1 82788 1.2079E-5 41394 0 NA
8-26721921-G-T p.Ala189Glu missense ADRA1A 1 82826 1.20735E-5 41413 0 5.03525E-4
8-26721923-T-C p.Ser188Ser synonymous ADRA1A 1 82834 1.20723E-5 41417 0 NA
8-26721940-C-T p.Gly183Ser missense ADRA1A 1 82856 1.20691E-5 41428 0 NA
8-26721941-C-G p.Pro182Pro synonymous ADRA1A 1 82838 1.20718E-5 41419 0 8.35562E-6
8-26721949-C-G p.Glu180Gln missense ADRA1A 2 82860 2.41371E-5 41430 0 2.50484E-5
8-26721953-G-T p.Ile178Ile synonymous ADRA1A 2 82868 2.41348E-5 41434 0 NA
8-26721956-C-A p.Gln177His missense ADRA1A 2 82866 2.41354E-5 41433 0 NA
8-26721965-G-A p.Thr174Thr synonymous ADRA1A 1 82888 1.20645E-5 41444 0 3.18532E-5
8-26721970-C-T p.Glu173Lys missense ADRA1A 2 82860 2.41371E-5 41430 0 5.03525E-4
8-26721990-C-T p.Arg166Lys missense ADRA1A 344 82854 0.00415188 41427 2 0.00625
8-26721998-G-A p.Phe163Phe synonymous ADRA1A 4 82856 4.82765E-5 41428 1 NA
8-26722008-C-G p.Gly160Ala missense ADRA1A 4 82870 4.82684E-5 41435 0 1.59321E-5
8-26722008-C-T p.Gly160Glu missense ADRA1A 1 82870 1.20671E-5 41435 0 3.98302E-6
8-26722009-C-T p.Gly160Arg missense ADRA1A 1 82866 1.20677E-5 41433 0 NA
8-26722012-T-C p.Ile159Val missense ADRA1A 1 82854 1.20694E-5 41427 0 1.59272E-5
8-26722025-G-C p.Ser154Ser synonymous ADRA1A 453 82862 0.00546692 41431 3 0.008125
8-26722026-G-A p.Ser154Phe missense ADRA1A 3 82870 3.62013E-5 41435 0 3.18552E-5
8-26722027-A-C p.Ser154Ala missense ADRA1A 590 82864 0.0071201 41432 0 0.00882559
8-26722027-A-T p.Ser154Thr missense ADRA1A 2 82874 2.4133E-5 41437 0 6.37227E-5
8-26722031-T-G p.Ala152Ala synonymous ADRA1A 1 82832 1.20726E-5 41416 0 7.96381E-6
8-26722067-C-T p.Gln140Gln synonymous ADRA1A 16 83008 1.92753E-4 41504 0 9.55353E-5
8-26722075-C-G p.Val138Leu missense ADRA1A 1 82994 1.20491E-5 41497 0 8.25191E-6
8-26722080-G-T p.Thr136Asn missense ADRA1A 2 83022 2.409E-5 41511 0 NA
8-26722083-G-A p.Pro135Leu missense ADRA1A 2 83022 2.409E-5 41511 0 6.3678E-5
8-26722084-G-C p.Pro135Ala missense ADRA1A 1 83016 1.20459E-5 41508 0 NA
8-26722090-G-T p.Arg133Ser missense ADRA1A 2 82994 2.40981E-5 41497 0 3.98067E-6
8-26722094-C-T p.Pro131Pro synonymous ADRA1A 5 83034 6.02163E-5 41517 0 4.12337E-5
8-26722094-C-A p.Pro131Pro synonymous ADRA1A 1 83034 1.20433E-5 41517 0 NA
8-26722103-C-T p.Val128Val synonymous ADRA1A 4 83032 4.81742E-5 41516 0 6.25E-4
8-26722105-C-T p.Val128Met missense ADRA1A 2 83026 2.40888E-5 41513 0 NA
8-26722117-G-A p.Arg124Cys missense ADRA1A 3 83014 3.61385E-5 41507 0 3.18695E-5
8-26722128-A-G p.Ile120Thr missense ADRA1A 2 83018 2.40912E-5 41509 0 NA
8-26722147-T-C p.Ile114Val missense ADRA1A 1 83058 1.20398E-5 41529 0 3.9782E-6
8-26722150-A-G p.Ser113Pro missense ADRA1A 1 83024 1.20447E-5 41512 0 3.97823E-6
8-26722151-C-T p.Ala112Ala synonymous ADRA1A 2 83016 2.40917E-5 41508 0 3.97826E-6
8-26722161-C-T p.Cys109Tyr missense ADRA1A 1 83038 1.20427E-5 41519 0 NA
8-26722193-G-A p.Phe98Phe synonymous ADRA1A 1 83072 1.20378E-5 41536 0 NA
8-26722201-T-G p.Arg96Arg synonymous ADRA1A 4 83072 4.8151E-5 41536 0 2.47154E-5
8-26722220-T-C p.Leu89Leu synonymous ADRA1A 1 83136 1.20285E-5 41568 0 NA
8-26722229-G-A p.Phe86Phe synonymous ADRA1A 1 83154 1.20259E-5 41577 0 3.97687E-6
8-26722237-C-T p.Ala84Thr missense ADRA1A 4 83174 4.8092E-5 41587 1 8.23873E-6
8-26722246-G-A p.Pro81Ser missense ADRA1A 1 83192 1.20204E-5 41596 0 NA
8-26722260-G-A p.Thr76Ile missense ADRA1A 1 83214 1.20172E-5 41607 0 8.23832E-5
8-26722265-C-G p.Leu74Leu synonymous ADRA1A 2 83210 2.40356E-5 41605 0 4.11909E-5
8-26722265-C-A p.Leu74Leu synonymous ADRA1A 1 83210 1.20178E-5 41605 0 8.23818E-6
8-26722280-C-A p.Ala69Ala synonymous ADRA1A 7 83238 8.40962E-5 41619 0 9.56511E-5
8-26722284-A-G p.Leu68Pro missense ADRA1A 1 83276 1.20083E-5 41638 0 NA
8-26722294-T-C p.Ile65Val missense ADRA1A 6 83310 7.20202E-5 41655 0 0.00100705
8-26722294-T-G p.Ile65Leu missense ADRA1A 1 83310 1.20034E-5 41655 0 NA
8-26722295-G-A p.Tyr64Tyr synonymous ADRA1A 29 83312 3.48089E-4 41656 0 6.37389E-5
8-26722298-G-GT p.Tyr63fs frameshift ADRA1A 3 83308 3.60109E-5 41654 0 4.9425E-5
8-26722321-G-A p.His56Tyr missense ADRA1A 2 83294 2.40113E-5 41647 0 NA
8-26722323-C-T p.Arg55Gln missense ADRA1A 2 83284 2.40142E-5 41642 0 8.35276E-5
8-26722332-G-A p.Ala52Val missense ADRA1A 4 83298 4.80204E-5 41649 0 3.18715E-5
8-26722344-A-T p.Ile48Asn missense ADRA1A 4 83302 4.80181E-5 41651 0 3.57938E-5
8-26722345-T-C p.Ile48Val missense ADRA1A 1 83314 1.20028E-5 41657 0 6.39713E-5
8-26722347-A-G p.Val47Ala missense ADRA1A 1 83308 1.20036E-5 41654 0 1.19311E-5
8-26722349-T-A p.Leu46Leu synonymous ADRA1A 1 83308 1.20036E-5 41654 0 NA
8-26722349-T-G p.Leu46Leu synonymous ADRA1A 1 83308 1.20036E-5 41654 0 NA
8-26722358-A-G p.Gly43Gly synonymous ADRA1A 1 83310 1.20034E-5 41655 0 3.18959E-5
8-26722385-C-G p.Gly34Gly synonymous ADRA1A 1 83334 1.19999E-5 41667 0 NA
8-26722385-C-A p.Gly34Gly synonymous ADRA1A 1 83334 1.19999E-5 41667 0 8.239E-6
8-26722386-C-G p.Gly34Ala missense ADRA1A 2 83334 2.39998E-5 41667 0 3.97772E-6
8-26722391-G-A p.Ile32Ile synonymous ADRA1A 1 83338 1.19993E-5 41669 0 8.24158E-6
8-26722393-T-A p.Ile32Phe missense ADRA1A 1 83332 1.20002E-5 41666 0 3.97747E-6
8-26722424-C-T p.Val21Val synonymous ADRA1A 1 83312 1.20031E-5 41656 0 0.001875
8-26722436-C-A p.Pro17Pro synonymous ADRA1A 15 83286 1.80102E-4 41643 0 2.23257E-4
8-26722437-G-A p.Pro17Leu missense ADRA1A 3 83284 3.60213E-5 41642 0 1.67185E-5
8-26722438-G-A p.Pro17Ser missense ADRA1A 7 83276 8.40578E-5 41638 0 9.56694E-5
8-26722447-AG-TT p.AsnCys13LysSer missense ADRA1A 1 83256 1.20111E-5 41628 0 NA
8-26722447-A-C p.Cys14Gly missense ADRA1A 4 83256 4.80446E-5 41628 0 3.19E-5
8-26722449-T-C p.Asn13Ser missense ADRA1A 1 83254 1.20114E-5 41627 0 8.02375E-6
8-26722472-C-G p.Ser5Ser synonymous ADRA1A 3 83094 3.61037E-5 41547 0 4.1278E-6
8-26722507-G-A c.-21C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 82228 1.21613E-5 41114 0 NA
8-26722514-G-A c.-28C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 2 81834 2.44397E-5 40917 0 1.52119E-5
8-26722539-T-A c.-53A>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 80236 1.24632E-5 40118 0 3.2E-5
8-26722559-G-A c.-73C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 78530 1.2734E-5 39265 0 NA
8-26722566-G-A c.-80C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 2 77612 2.57692E-5 38806 0 NA
8-26722583-G-A c.-97C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 74320 1.34553E-5 37160 0 NA
8-26722658-G-A c.-172C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 2 54496 3.66999E-5 27248 0 NA
8-26722756-T-A c.-270A>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 33364 2.99724E-5 16682 0 NA
8-26722774-G-A c.-288C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 2 31334 6.38284E-5 15667 0 NA
8-26722833-A-G c.-347T>C 5_prime_UTR_premature_start_codon_gain ADRA1A 32 27102 0.00118072 13551 0 0.00360332
8-26722963-G-A c.-477C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 24712 4.04662E-5 12356 0 NA
8-26723006-G-T c.-520C>A 5_prime_UTR_premature_start_codon_gain ADRA1A 22472 24298 0.92485 12149 10461 0.879605
8-26723045-T-A c.-559A>T 5_prime_UTR_premature_start_codon_gain ADRA1A 26 24454 0.00106322 12227 0 0.00362249
8-26723112-G-A c.-626C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 24410 4.09668E-5 12205 0 NA
8-26723149-G-A c.-663C>T 5_prime_UTR_premature_start_codon_gain ADRA1A 9 24408 3.68732E-4 12204 1 0.00127421
8-26724642-T-A c.-876A>T 5_prime_UTR_premature_start_codon_gain ADRA1A 1 24284 4.11794E-5 12142 0 NA
8-26724669-G-C c.-903C>G 5_prime_UTR_premature_start_codon_gain ADRA1A 6 24278 2.47137E-4 12139 0 8.65052E-4