Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-75631282-C-A p.Ter19Leuext*? stop_lost ADAT1 1 8990 1.11235E-4 4495 0 8.03755E-6
16-75632208-G-A p.His108His synonymous ADAT1 5 6684 7.48055E-4 3342 0 7.64721E-4
16-75633000-G-C c.*2369C>G splice_region ADAT1 1 24070 4.15455E-5 12035 0 NA
16-75634123-C-G p.Gln500His missense ADAT1 1 83386 1.19924E-5 41693 0 NA
16-75634125-G-A p.Gln500* stop_gained ADAT1 1 83390 1.19918E-5 41695 0 3.18471E-5
16-75634132-A-C p.Asp497Glu missense ADAT1 5 83380 5.99664E-5 41690 0 6.36943E-5
16-75634135-C-T p.Pro496Pro synonymous ADAT1 4 83374 4.79766E-5 41687 0 3.29587E-5
16-75634136-G-A p.Pro496Leu missense ADAT1 2 83372 2.39889E-5 41686 0 1.64788E-5
16-75634145-C-T p.Arg493Lys missense ADAT1 2 83372 2.39889E-5 41686 0 NA
16-75634146-T-C p.Arg493Gly missense ADAT1 1 83370 1.19947E-5 41685 0 NA
16-75634172-C-T p.Arg484Gln missense ADAT1 5 83370 5.99736E-5 41685 0 5.96488E-5
16-75634173-G-A p.Arg484Trp missense ADAT1 2 83372 2.39889E-5 41686 0 6.25E-4
16-75634175-A-C p.Leu483Arg missense ADAT1 1 83374 1.19941E-5 41687 0 NA
16-75634183-C-A p.Trp480Cys missense ADAT1 2 83362 2.39917E-5 41681 0 8.23669E-6
16-75634190-T-C p.Glu478Gly missense ADAT1 1 83360 1.19962E-5 41680 0 NA
16-75634192-C-T p.Gln477Gln synonymous ADAT1 14 83366 1.67934E-4 41683 0 0.00115316
16-75634193-T-C p.Gln477Arg missense ADAT1 1 83368 1.1995E-5 41684 0 7.95349E-6
16-75634194-G-A p.Gln477* stop_gained ADAT1 1 83366 1.19953E-5 41683 0 NA
16-75634195-G-C p.Tyr476* stop_gained ADAT1 1 83368 1.1995E-5 41684 0 3.18451E-5
16-75634196-T-G p.Tyr476Ser missense ADAT1 1 83364 1.19956E-5 41682 0 3.97681E-6
16-75634202-G-A p.Ser474Phe missense ADAT1 1 83362 1.19959E-5 41681 0 NA
16-75634204-C-T p.Ala473Ala synonymous ADAT1 1 83344 1.19985E-5 41672 0 3.18573E-5
16-75634209-C-T p.Ala472Thr missense ADAT1 1 83322 1.20016E-5 41661 0 8.23778E-6
16-75634219-C-T p.Glu468Glu synonymous ADAT1 2 83274 2.40171E-5 41637 0 NA
16-75634226-T-A p.Tyr466Phe missense ADAT1 1 83238 1.20137E-5 41619 0 4.37591E-5
16-75634228-G-C p.Thr465Thr synonymous ADAT1 1 83226 1.20155E-5 41613 0 NA
16-75634232-T-C p.Asp464Gly missense ADAT1 7 83200 8.41346E-5 41600 0 2.22987E-4
16-75634243-C-T p.Val460Val synonymous ADAT1 2 83026 2.40888E-5 41513 0 NA
16-75634245-C-T p.Val460Met missense+splice_region ADAT1 1 82984 1.20505E-5 41492 0 NA
16-75634249-A-C c.1377-3T>G splice_region ADAT1 1 82902 1.20624E-5 41451 0 NA
16-75634249-A-G c.1377-3T>C splice_region ADAT1 1 82902 1.20624E-5 41451 0 NA
16-75634250-A-ATTC c.1377-5_1377-4insGAA splice_region ADAT1 1 82878 1.20659E-5 41439 0 NA
16-75636989-G-A p.Ser457Phe missense ADAT1 1 82980 1.20511E-5 41490 0 8.2394E-6
16-75637001-T-C p.Lys453Arg missense ADAT1 2 83044 2.40836E-5 41522 0 1.5919E-5
16-75637036-T-C p.Ser441Ser synonymous ADAT1 87 83146 0.00104635 41573 1 0.00334288
16-75637042-G-T p.Phe439Leu missense ADAT1 1 83158 1.20253E-5 41579 0 3.1835E-5
16-75637065-G-C p.Gln432Glu missense ADAT1 1 83116 1.20314E-5 41558 0 NA
16-75642115-G-A c.1289+7C>T splice_region ADAT1 136 83196 0.00163469 41598 1 0.0029305
16-75642120-ACCTTG-A p.Ala429fs frameshift ADAT1 3 83218 3.60499E-5 41609 0 1.64747E-5
16-75642140-A-G p.Ile424Thr missense ADAT1 1 83282 1.20074E-5 41641 0 4.11828E-5
16-75642143-G-C p.Thr423Arg missense ADAT1 4 83292 4.80238E-5 41646 0 5.03525E-4
16-75642143-G-A p.Thr423Ile missense ADAT1 1 83292 1.2006E-5 41646 0 8.23655E-6
16-75642149-T-C p.Lys421Arg missense ADAT1 2 83298 2.40102E-5 41649 0 NA
16-75642152-G-T p.Thr420Lys missense ADAT1 2 83292 2.40119E-5 41646 0 NA
16-75642154-T-A p.Thr419Thr synonymous ADAT1 3 83292 3.60179E-5 41646 0 3.97757E-5
16-75642155-G-C p.Thr419Arg missense ADAT1 2 83292 2.40119E-5 41646 0 3.97833E-6
16-75642161-T-C p.Gln417Arg missense ADAT1 20 83278 2.40159E-4 41639 0 3.82044E-4
16-75642169-G-C p.Gly414Gly synonymous ADAT1 18 83252 2.16211E-4 41626 0 3.1837E-5
16-75642169-G-T p.Gly414Gly synonymous ADAT1 1 83252 1.20117E-5 41626 0 3.1837E-5
16-75642172-A-G p.Asn413Asn synonymous ADAT1 1 83244 1.20129E-5 41622 0 8.23669E-6
16-75642178-A-G p.Thr411Thr synonymous ADAT1 1 83224 1.20158E-5 41612 0 NA
16-75642179-G-A p.Thr411Ile missense ADAT1 3 83222 3.60482E-5 41611 0 9.54988E-5
16-75642185-T-G p.Asp409Ala missense ADAT1 7 83226 8.41083E-5 41613 0 6.36821E-5
16-75642194-T-G p.Gln406Pro missense ADAT1 1 83178 1.20224E-5 41589 0 NA
16-75642195-G-A p.Gln406* stop_gained ADAT1 1 83174 1.2023E-5 41587 0 3.97937E-6
16-75642201-G-A p.Pro404Ser missense ADAT1 1 83162 1.20247E-5 41581 0 3.97921E-6
16-75642210-T-G p.Ser401Arg missense ADAT1 4 83104 4.81325E-5 41552 0 3.1837E-5
16-75642215-C-A p.Ser399Ile missense ADAT1 1 83074 1.20375E-5 41537 0 NA
16-75642218-A-G p.Ile398Thr missense ADAT1 2 83038 2.40854E-5 41519 0 3.98146E-6
16-75642219-T-C p.Ile398Val missense+splice_region ADAT1 2 83026 2.40888E-5 41513 0 1.19432E-5
16-75642222-C-T c.1190-1G>A splice_acceptor ADAT1 1 82998 1.20485E-5 41499 0 NA
16-75642223-T-TGCCCC c.1190-3_1190-2insGGGGC splice_region ADAT1 4 82982 4.82032E-5 41491 2 NA
16-75642225-T-C c.1190-4A>G splice_region ADAT1 2 82948 2.41115E-5 41474 0 6.36659E-5
16-75642734-C-T c.1189+7G>A splice_region ADAT1 1 83000 1.20482E-5 41500 0 8.0025E-6
16-75642745-C-T p.Gly395Gly synonymous ADAT1 1 83094 1.20346E-5 41547 0 3.30737E-5
16-75642756-C-A p.Val392Phe missense ADAT1 8 83200 9.61538E-5 41600 0 3.1839E-4
16-75642756-C-G p.Val392Leu missense ADAT1 1 83200 1.20192E-5 41600 0 NA
16-75642761-C-T p.Arg390Gln missense ADAT1 3 83200 3.60577E-5 41600 0 2.47451E-5
16-75642772-A-G p.Asp386Asp synonymous ADAT1 2983 83190 0.0358577 41595 108 0.068125
16-75642778-C-T p.Arg384Arg synonymous ADAT1 3 83242 3.60395E-5 41621 0 NA
16-75642792-C-A p.Val380Leu missense ADAT1 1 83246 1.20126E-5 41623 0 3.29549E-5
16-75642792-C-G p.Val380Leu missense ADAT1 2 83246 2.40252E-5 41623 0 3.98159E-6
16-75642793-C-T p.Ala379Ala synonymous ADAT1 1 83250 1.2012E-5 41625 0 1.03536E-4
16-75642799-G-A p.Arg377Arg synonymous ADAT1 9 83250 1.08108E-4 41625 0 5.17207E-5
16-75642800-C-T p.Arg377His missense ADAT1 5 83258 6.00543E-5 41629 0 2.86471E-4
16-75642801-G-A p.Arg377Cys missense ADAT1 1491 83224 0.0179155 41612 24 0.0206343
16-75642808-T-C p.Glu374Glu synonymous ADAT1 1 83260 1.20106E-5 41630 0 NA
16-75642814-T-C p.Leu372Leu synonymous ADAT1 1 83272 1.20088E-5 41636 0 8.23805E-6
16-75642835-T-G p.Lys365Asn missense ADAT1 2 83266 2.40194E-5 41633 0 NA
16-75642853-G-A p.Phe359Phe synonymous ADAT1 2 83216 2.40338E-5 41608 0 1.19369E-5
16-75642854-A-G p.Phe359Ser missense ADAT1 2 83218 2.40333E-5 41609 0 3.1837E-5
16-75642857-C-A p.Gly358Val missense ADAT1 4 83218 4.80665E-5 41609 0 6.25E-4
16-75642877-A-G p.Asn351Asn synonymous ADAT1 6 83188 7.21258E-5 41594 0 7.41876E-5
16-75642882-G-C p.Gln350Glu missense ADAT1 1 83176 1.20227E-5 41588 0 1.19437E-5
16-75642883-A-G p.Cys349Cys synonymous ADAT1 1 83180 1.20221E-5 41590 0 5.7712E-5
16-75642888-T-TTCC c.1044-3_1044-2insGGA splice_region ADAT1 2 83156 2.40512E-5 41578 1 NA
16-75642888-T-TTCCAATCAGTGCTCTCTGCATGGCTTCCTGGCTGTATGGGCACTTCCC c.1044-3_1044-2insGGGAAGTGCCCATACAGCCAGGAAGCCATGCAGAGAGCACTGATTGGA splice_region ADAT1 1 83156 1.20256E-5 41578 0 NA
16-75642894-C-A c.1044-8G>T splice_region ADAT1 3 83080 3.61098E-5 41540 0 3.54616E-4
16-75646136-C-T c.1043+5G>A splice_region ADAT1 4 82688 4.83746E-5 41344 0 8.44552E-6
16-75646147-A-G p.Ile346Thr missense ADAT1 2 82918 2.41202E-5 41459 0 3.98699E-6
16-75646150-A-T p.Leu345Gln missense ADAT1 2 82960 2.4108E-5 41480 0 8.33236E-6
16-75646154-C-T p.Ala344Thr missense ADAT1 1 82990 1.20496E-5 41495 0 NA
16-75646158-C-A p.Gln342His missense ADAT1 1 83022 1.2045E-5 41511 0 3.18695E-5
16-75646160-G-T p.Gln342Lys missense ADAT1 1 83034 1.20433E-5 41517 0 NA
16-75646161-C-T p.Met341Ile missense ADAT1 1 83044 1.20418E-5 41522 0 8.28734E-6
16-75646166-C-G p.Ala340Pro missense ADAT1 1 83064 1.20389E-5 41532 0 NA
16-75646172-G-A p.Gln338* stop_gained ADAT1 1 83128 1.20296E-5 41564 0 NA
16-75646175-T-G p.Ser337Arg missense ADAT1 1 83134 1.20288E-5 41567 0 3.18593E-5
16-75646176-G-A p.Tyr336Tyr synonymous ADAT1 4 83136 4.81139E-5 41568 0 9.5584E-5
16-75646192-A-G p.Ile331Thr missense ADAT1 1 83172 1.20233E-5 41586 0 8.24498E-6
16-75646214-T-C p.Ile324Val missense ADAT1 2 83210 2.40356E-5 41605 0 NA
16-75646215-G-C p.Pro323Pro synonymous ADAT1 2 83212 2.4035E-5 41606 0 1.59094E-5
16-75646216-G-C p.Pro323Arg missense ADAT1 1 83206 1.20184E-5 41603 0 8.239E-6
16-75646218-C-A p.Glu322Asp missense ADAT1 2 83216 2.40338E-5 41608 0 7.95437E-6
16-75646227-C-A p.Leu319Phe missense ADAT1 2 83222 2.40321E-5 41611 0 3.18471E-5
16-75646231-T-C p.His318Arg missense ADAT1 1 83224 1.20158E-5 41612 0 NA
16-75646248-T-C p.Gln312Gln synonymous ADAT1 1 83198 1.20195E-5 41599 0 8.23778E-6
16-75646253-AT-A p.Cys311fs frameshift ADAT1 1 83184 1.20215E-5 41592 0 NA
16-75646256-CGAGGA-C p.Val308fs frameshift ADAT1 1 83176 1.20227E-5 41588 0 NA
16-75646256-C-T p.Gly310Arg missense ADAT1 1 83176 1.20227E-5 41588 0 3.18451E-5
16-75646257-G-A p.Leu309Leu synonymous ADAT1 2 83186 2.40425E-5 41593 0 7.95558E-6
16-75646259-G-A p.Leu309Phe missense ADAT1 2 83184 2.40431E-5 41592 0 3.97776E-6
16-75646262-C-T p.Val308Ile missense ADAT1 11 83174 1.32253E-4 41587 0 1.72979E-4
16-75646263-G-A p.Asn307Asn synonymous ADAT1 8 83178 9.61793E-5 41589 0 1.2738E-4
16-75646270-C-T p.Arg305Gln missense ADAT1 13 83172 1.56303E-4 41586 0 2.22902E-4
16-75646271-G-A p.Arg305* stop_gained ADAT1 1 83174 1.2023E-5 41587 0 3.9781E-6
16-75646279-T-G p.Lys302Thr missense ADAT1 2 83174 2.4046E-5 41587 0 NA
16-75646280-T-G p.Lys302Gln missense ADAT1 1 83166 1.20241E-5 41583 0 NA
16-75646288-C-A p.Cys299Phe missense ADAT1 2 83156 2.40512E-5 41578 0 NA
16-75646291-G-T p.Ser298Tyr missense ADAT1 2 83144 2.40547E-5 41572 0 8.23696E-6
16-75646297-G-A p.Ser296Phe missense ADAT1 18 83166 2.16435E-4 41583 0 1.91046E-4
16-75646298-A-T p.Ser296Thr missense ADAT1 1 83162 1.20247E-5 41581 0 3.5799E-5
16-75646300-C-T p.Arg295His missense ADAT1 2 83154 2.40518E-5 41577 0 3.97795E-6
16-75646301-G-A p.Arg295Cys missense ADAT1 7 83148 8.41872E-5 41574 0 4.77323E-4
16-75646301-G-C p.Arg295Gly missense ADAT1 2 83148 2.40535E-5 41574 0 3.97769E-6
16-75646307-T-C p.Arg293Gly missense ADAT1 2 83162 2.40494E-5 41581 0 9.55049E-5
16-75646313-C-G p.Gly291Arg missense ADAT1 1 83158 1.20253E-5 41579 0 NA
16-75646315-C-T p.Arg290His missense ADAT1 2 83150 2.40529E-5 41575 0 6.3678E-5
16-75646318-C-T p.Gly289Asp missense ADAT1 2 83144 2.40547E-5 41572 0 1.1933E-5
16-75646324-T-G p.Lys287Thr missense ADAT1 2 83150 2.40529E-5 41575 0 3.97753E-6
16-75646330-C-T p.Arg285Gln missense ADAT1 1 83132 1.20291E-5 41566 0 3.18431E-5
16-75646331-G-A p.Arg285* stop_gained ADAT1 1 83142 1.20276E-5 41571 0 1.64739E-5
16-75646339-C-T p.Gly282Glu missense ADAT1 2 83136 2.4057E-5 41568 0 3.29473E-5
16-75646347-G-A p.His279His synonymous ADAT1 2 83152 2.40523E-5 41576 0 3.97798E-6
16-75646353-C-T p.Ala277Ala synonymous ADAT1 6 83164 7.21466E-5 41582 0 2.47141E-5
16-75646354-G-A p.Ala277Val missense ADAT1 2 83158 2.40506E-5 41579 0 9.55414E-5
16-75646357-G-GGTGA p.Ala276fs frameshift ADAT1 7 83146 8.41893E-5 41573 0 9.88452E-5
16-75646357-G-A p.Ala276Val missense ADAT1 1 83146 1.2027E-5 41573 0 8.2371E-6
16-75646358-C-A p.Ala276Ser missense ADAT1 7 83136 8.41994E-5 41568 0 9.88468E-5
16-75646360-C-CT p.Gly275fs frameshift ADAT1 7 83144 8.41913E-5 41572 0 9.88468E-5
16-75646362-C-T p.Pro274Pro synonymous ADAT1 11 83164 1.32269E-4 41582 0 3.46072E-4
16-75646363-G-A p.Pro274Leu missense ADAT1 1 83158 1.20253E-5 41579 0 1.64775E-5
16-75646365-C-A p.Lys273Asn missense ADAT1 1 83176 1.20227E-5 41588 0 NA
16-75646366-T-A p.Lys273Met missense ADAT1 322 83180 0.00387112 41590 2 0.00863002
16-75646367-T-C p.Lys273Glu missense ADAT1 1 83176 1.20227E-5 41588 0 2.47141E-5
16-75646370-C-T p.Gly272Arg missense ADAT1 1 83182 1.20218E-5 41591 0 1.19346E-5
16-75646371-G-A p.Ser271Ser synonymous ADAT1 1 83180 1.20221E-5 41590 0 6.36983E-5
16-75646378-C-T p.Gly269Glu missense ADAT1 1 83216 1.20169E-5 41608 0 NA
16-75646392-T-C p.Val264Val synonymous ADAT1 17 83242 2.04224E-4 41621 0 5.41505E-4
16-75646395-A-G p.Cys263Cys synonymous ADAT1 83 83250 9.96997E-4 41625 0 0.00251762
16-75646423-A-G p.Ile254Thr missense ADAT1 3850 83256 0.0462429 41628 128 0.0669982
16-75646429-T-C p.Lys252Arg missense ADAT1 8 83292 9.60476E-5 41646 0 5.03525E-4
16-75646441-G-T p.Pro248His missense ADAT1 1 83316 1.20025E-5 41658 0 4.11821E-5
16-75646442-G-A p.Pro248Ser missense ADAT1 366 83312 0.00439312 41656 3 0.016875
16-75646443-G-C p.Ala247Ala synonymous ADAT1 4 83314 4.80111E-5 41657 0 1.59337E-4
16-75646445-C-T p.Ala247Thr missense ADAT1 3 83324 3.6004E-5 41662 0 3.18532E-5
16-75646455-G-T p.Val243Val synonymous ADAT1 2 83332 2.40004E-5 41666 0 NA
16-75646460-T-G p.Thr242Pro missense ADAT1 88 83344 0.00105586 41672 1 0.006875
16-75646462-G-C p.Ala241Gly missense ADAT1 11 83358 1.31961E-4 41679 0 5.16989E-5
16-75646468-C-T p.Gly239Glu missense ADAT1 1 83352 1.19973E-5 41676 0 NA
16-75646471-T-G p.Glu238Ala missense ADAT1 1 83354 1.1997E-5 41677 0 NA
16-75646476-A-G p.Thr236Thr synonymous ADAT1 2 83366 2.39906E-5 41683 0 1.19301E-5
16-75646481-G-C p.Leu235Val missense ADAT1 1 83358 1.19964E-5 41679 0 8.23642E-6
16-75646491-G-A p.His231His synonymous ADAT1 551 83340 0.00661147 41670 2 0.00656218
16-75646496-T-C p.Ile230Val missense ADAT1 1 83368 1.1995E-5 41684 0 NA
16-75646497-G-A p.Gly229Gly synonymous ADAT1 1 83368 1.1995E-5 41684 0 1.64728E-5
16-75646501-G-A p.Pro228Leu missense ADAT1 9 83374 1.07947E-4 41687 0 1.27437E-4
16-75646502-G-A p.Pro228Ser missense ADAT1 1 83380 1.19933E-5 41690 0 3.97665E-6
16-75646508-T-C p.Ile226Val missense ADAT1 2209 83360 0.0264995 41680 176 0.0568631
16-75646511-G-C p.Pro225Ala missense ADAT1 364 83366 0.00436629 41683 6 0.00949468
16-75646511-G-T p.Pro225Thr missense ADAT1 1 83372 1.19944E-5 41686 0 8.23642E-6
16-75646514-C-G p.Gly224Arg missense ADAT1 1 83382 1.1993E-5 41691 0 3.18512E-5
16-75646525-T-A p.Lys220Met missense ADAT1 1 83374 1.19941E-5 41687 0 NA
16-75646540-T-C p.His215Arg missense ADAT1 2 83376 2.39877E-5 41688 0 5.03525E-4
16-75646552-C-T p.Gly211Glu missense ADAT1 1 83360 1.19962E-5 41680 0 9.55901E-5
16-75646553-C-T p.Gly211Arg missense ADAT1 202 83358 0.00242328 41679 1 0.00503525
16-75646553-C-A p.Gly211* stop_gained ADAT1 3 83360 3.59885E-5 41680 0 3.97706E-6
16-75646554-G-A p.Asn210Asn synonymous ADAT1 2 83368 2.399E-5 41684 0 3.29457E-5
16-75646559-T-C p.Thr209Ala missense ADAT1 1 83366 1.19953E-5 41683 0 NA
16-75646560-G-A p.Val208Val synonymous ADAT1 1 83368 1.1995E-5 41684 0 NA
16-75646563-C-G p.Glu207Asp missense ADAT1 1 83364 1.19956E-5 41682 0 0.0025
16-75646568-T-C p.Arg206Gly missense ADAT1 4 83360 4.79846E-5 41680 0 2.55333E-4
16-75646575-A-G p.Thr203Thr synonymous ADAT1 2 83348 2.39958E-5 41674 0 NA
16-75646576-G-T p.Thr203Asn missense ADAT1 7728 83252 0.0928266 41626 1006 0.180025
16-75646576-G-A p.Thr203Ile missense ADAT1 1 83348 1.19979E-5 41674 0 8.23845E-6
16-75646582-G-A p.Pro201Leu missense ADAT1 1 83338 1.19993E-5 41669 0 NA
16-75646585-T-C p.Glu200Gly missense ADAT1 1 83334 1.19999E-5 41667 0 3.97725E-6
16-75646600-T-C p.Lys195Arg missense ADAT1 1 83324 1.20013E-5 41662 0 3.18715E-5
16-75646607-C-T p.Val193Ile missense ADAT1 4 83302 4.80181E-5 41651 0 5.03525E-4
16-75646616-C-T p.Asp190Asn missense ADAT1 1 83292 1.2006E-5 41646 0 NA
16-75646619-G-A p.Pro189Ser missense ADAT1 1 83272 1.20088E-5 41636 0 8.23669E-6
16-75646631-T-G p.Lys185Gln missense ADAT1 3 83270 3.60274E-5 41635 0 2.47113E-5
16-75646633-C-T p.Arg184Lys missense ADAT1 1 83256 1.20111E-5 41628 0 3.98197E-6
16-75646634-T-G p.Arg184Arg synonymous ADAT1 1 83256 1.20111E-5 41628 0 NA
16-75646638-A-G p.Asn182Asn synonymous ADAT1 1 83242 1.20132E-5 41621 0 NA
16-75646645-G-T p.Pro180His missense ADAT1 3 83244 3.60386E-5 41622 0 1.6475E-5
16-75646648-G-A p.Ala179Val missense ADAT1 2 83230 2.40298E-5 41615 0 3.98753E-6
16-75646653-C-T p.Leu177Leu synonymous ADAT1 1 83226 1.20155E-5 41613 0 NA
16-75646655-G-A p.Leu177Leu synonymous ADAT1 1 83218 1.20166E-5 41609 0 NA
16-75646673-C-G p.Val171Leu missense ADAT1 1 83224 1.20158E-5 41612 0 NA
16-75646674-T-C p.Ser170Ser synonymous ADAT1 1 83222 1.20161E-5 41611 0 6.37105E-5
16-75646679-A-G p.Ser169Pro missense ADAT1 3 83212 3.60525E-5 41606 0 NA
16-75646681-T-C p.Asn168Ser missense ADAT1 1 83204 1.20187E-5 41602 0 2.80047E-5
16-75646683-G-C p.His167Gln missense ADAT1 3 83186 3.60638E-5 41593 0 2.22482E-4
16-75646683-GTG-CTT p.His167Lys missense ADAT1 2 83186 2.40425E-5 41593 0 NA
16-75646684-T-C p.His167Arg missense ADAT1 1 83176 1.20227E-5 41588 0 NA
16-75646685-G-T p.His167Asn missense ADAT1 26159 82222 0.318151 41111 5173 0.384879
16-75646691-A-T p.Trp165Arg missense ADAT1 1 83164 1.20244E-5 41582 0 8.24729E-6
16-75646692-A-G p.Asn164Asn synonymous ADAT1 1 83158 1.20253E-5 41579 0 NA
16-75646705-G-A p.Pro160Leu missense ADAT1 1 83110 1.20322E-5 41555 0 4.0093E-5
16-75646706-G-A p.Pro160Ser missense ADAT1 1 83106 1.20328E-5 41553 0 1.65096E-5
16-75646708-C-T p.Cys159Tyr missense ADAT1 1 83102 1.20334E-5 41551 0 NA
16-75646711-C-G p.Cys158Ser missense ADAT1 1 83044 1.20418E-5 41522 0 NA
16-75646714-G-T p.Pro157His missense ADAT1 1 83038 1.20427E-5 41519 0 NA
16-75646722-T-C p.Glu154Glu synonymous ADAT1 1 82918 1.20601E-5 41459 0 5.03525E-4
16-75646738-G-T p.Pro149Gln missense ADAT1 1 82606 1.21057E-5 41303 0 1.66099E-5
16-75646738-G-A p.Pro149Leu missense ADAT1 2 82606 2.42113E-5 41303 0 8.04861E-6
16-75651035-C-G c.424+5G>C splice_region ADAT1 3 82890 3.61925E-5 41445 0 3.18431E-5
16-75651039-C-A c.424+1G>T splice_donor ADAT1 3 82982 3.61524E-5 41491 0 3.1839E-5
16-75651041-G-A p.Pro141Pro splice_region+synonymous ADAT1 1 83022 1.2045E-5 41511 0 NA
16-75651042-G-C p.Pro141Arg missense+splice_region ADAT1 1 83034 1.20433E-5 41517 0 NA
16-75651043-G-T p.Pro141Thr missense ADAT1 1 83060 1.20395E-5 41530 0 8.26269E-6
16-75651069-A-G p.Ile132Thr missense ADAT1 1 83270 1.20091E-5 41635 0 3.97782E-6
16-75651073-G-A p.Leu131Phe missense ADAT1 1 83264 1.201E-5 41632 0 1.64802E-5
16-75651078-C-T p.Arg129Gln missense ADAT1 4 83288 4.80261E-5 41644 0 9.5511E-5
16-75651079-G-A p.Arg129* stop_gained ADAT1 1 83296 1.20054E-5 41648 0 7.41559E-5
16-75651081-C-T p.Arg128Lys missense ADAT1 1 83300 1.20048E-5 41650 0 NA
16-75651092-C-A p.Val124Val synonymous ADAT1 1 83314 1.20028E-5 41657 0 3.97697E-6
16-75651097-C-T p.Gly123Arg missense ADAT1 5 83322 6.00082E-5 41661 0 4.11916E-5
16-75651123-C-T p.Ser114Asn missense ADAT1 4 83350 4.79904E-5 41675 0 1.91144E-4
16-75651128-C-T p.Glu112Glu synonymous ADAT1 1 83352 1.19973E-5 41676 0 NA
16-75651136-G-C p.Leu110Val missense ADAT1 1 83354 1.1997E-5 41677 0 7.95463E-6
16-75651142-C-T p.Ala108Thr missense ADAT1 2 83350 2.39952E-5 41675 0 8.24022E-6
16-75651151-G-A p.Gln105* stop_gained ADAT1 1 83348 1.19979E-5 41674 0 NA
16-75651159-T-A p.His102Leu missense ADAT1 1 83342 1.19988E-5 41671 0 NA
16-75651172-T-TTTGGAAACTCCTTCTGGCTATGACCTCAGCATGGCTATC c.294-3_294-2insGATAGCCATGCTGAGGTCATAGCCAGAAGGAGTTTCCAA splice_region ADAT1 1 83330 1.20005E-5 41665 0 NA
16-75651172-T-TTTGG c.294-3_294-2insCCAA splice_region ADAT1 1 83328 1.20008E-5 41664 0 NA
16-75651175-G-C c.294-5C>G splice_region ADAT1 1 83316 1.20025E-5 41658 0 NA
16-75652480-T-C c.293+4A>G splice_region ADAT1 1 83106 1.20328E-5 41553 0 NA
16-75652494-T-G p.Ser95Arg missense ADAT1 1 83226 1.20155E-5 41613 0 NA
16-75652497-T-G p.Arg94Arg synonymous ADAT1 4 83258 4.80434E-5 41629 0 3.64845E-5
16-75652501-G-A p.Ala92Ala synonymous ADAT1 1 83290 1.20062E-5 41645 0 4.02765E-6
16-75652503-C-G p.Ala92Pro missense ADAT1 1 83296 1.20054E-5 41648 0 NA
16-75652509-C-T p.Val90Ile missense ADAT1 23 83298 2.76117E-4 41649 0 2.04394E-4
16-75652518-G-A p.His87Tyr missense ADAT1 2 83310 2.40067E-5 41655 0 3.1989E-5
16-75652533-T-C p.Ile82Val missense ADAT1 1 83246 1.20126E-5 41623 0 3.99706E-6
16-75652542-C-T p.Arg98His missense ADAT1 2 83190 2.40414E-5 41595 0 4.80069E-5
16-75652543-G-A p.Arg98Cys missense ADAT1 1 83176 1.20227E-5 41588 0 1.59937E-5
16-75652544-G-A c.239-6C>T splice_region ADAT1 1 83190 1.20207E-5 41595 0 3.99632E-6
16-75652551-T-C p.Tyr95Cys missense ADAT1 41 83144 4.9312E-4 41572 0 0.003125
16-75652554-G-A p.Ser94Phe missense ADAT1 1 83134 1.20288E-5 41567 0 NA
16-75652573-T-A p.Ile88Leu missense ADAT1 1 83048 1.20412E-5 41524 0 NA
16-75652584-G-A p.Ser84Phe missense ADAT1 1 82902 1.20624E-5 41451 0 3.18837E-5
16-75652588-GT-G p.Arg82fs frameshift ADAT1 13 82880 1.56853E-4 41440 0 2.48071E-5
16-75653522-T-C n.471+8A>G splice_region ADAT1 1 8058 1.241E-4 4029 0 0.001875
16-75654156-G-A c.238+8C>T splice_region ADAT1 1 83318 1.20022E-5 41659 0 1.5908E-5
16-75654157-T-A c.238+7A>T splice_region ADAT1 14 83316 1.68035E-4 41658 0 7.32391E-4
16-75654164-C-T p.Gly80Arg missense+splice_region ADAT1 2 83334 2.39998E-5 41667 0 2.47133E-5
16-75654173-T-C p.Arg77Gly missense ADAT1 6 83338 7.1996E-5 41669 0 3.18142E-5
16-75654181-G-T p.Ser74Tyr missense ADAT1 2 83338 2.39987E-5 41669 0 NA
16-75654212-T-C p.Met64Val missense ADAT1 2 83348 2.39958E-5 41674 0 1.19291E-5
16-75654227-T-C p.Lys59Glu missense ADAT1 3 83342 3.59963E-5 41671 0 2.3065E-4
16-75654234-T-TTGCACCGGCTTATCAGGGGTGTCGCAGGCCTTGTCA c.170-3_170-2insTGACAAGGCCTGCGACACCCCTGATAAGCCGGTGCA splice_region ADAT1 2 83342 2.39975E-5 41671 1 NA
16-75654239-G-GA c.170-8_170-7insT splice_region ADAT1 1 83314 1.20028E-5 41657 0 8.23764E-6
16-75654536-C-T p.Pro54Pro synonymous ADAT1 276 83298 0.0033134 41649 0 0.00375748
16-75654536-C-G p.Pro54Pro synonymous ADAT1 1 83298 1.20051E-5 41649 0 8.27732E-6
16-75654537-G-A p.Pro54Leu missense ADAT1 3 83298 3.60153E-5 41649 0 2.06782E-4
16-75654541-T-C p.Lys53Glu missense ADAT1 21 83308 2.52077E-4 41654 0 5.04541E-4
16-75654544-C-A p.Asp52Tyr missense ADAT1 2 83316 2.4005E-5 41658 0 8.25914E-6
16-75654549-G-T p.Thr50Asn missense ADAT1 4 83316 4.801E-5 41658 0 3.1841E-5
16-75654551-G-A p.Asp49Asp synonymous ADAT1 8 83322 9.60131E-5 41661 0 5.03525E-4
16-75654560-CTT-C p.Lys46fs frameshift ADAT1 1 83342 1.19988E-5 41671 0 NA
16-75654563-G-A p.Asp45Asp synonymous ADAT1 1 83350 1.19976E-5 41675 0 NA
16-75654569-T-G p.Pro43Pro synonymous ADAT1 1 83350 1.19976E-5 41675 0 2.86312E-4
16-75654579-A-G p.Ile40Thr missense ADAT1 1 83338 1.19993E-5 41669 0 8.23995E-6
16-75654586-C-A p.Val38Leu missense ADAT1 1 83344 1.19985E-5 41672 0 NA
16-75654590-C-T p.Ala36Ala synonymous ADAT1 9 83336 1.07997E-4 41668 0 9.55414E-5
16-75654591-G-A p.Ala36Val missense ADAT1 1 83342 1.19988E-5 41671 0 3.18532E-5
16-75654592-C-T p.Ala36Thr missense ADAT1 1 83342 1.19988E-5 41671 0 NA
16-75654599-T-A p.Leu33Phe missense ADAT1 1 83350 1.19976E-5 41675 0 8.23859E-6
16-75654611-A-T p.His29Gln missense ADAT1 4 83338 4.79973E-5 41669 0 6.25E-4
16-75654612-T-C p.His29Arg missense ADAT1 4 83340 4.79962E-5 41670 0 NA
16-75654614-G-GT p.Asn28fs frameshift ADAT1 1 83342 1.19988E-5 41671 0 NA
16-75654623-A-G p.Pro25Pro synonymous ADAT1 2 83332 2.40004E-5 41666 0 7.95305E-6
16-75654643-G-C p.Leu19Val missense ADAT1 1 83308 1.20036E-5 41654 0 NA
16-75654646-T-C p.Arg18Gly missense ADAT1 1 83310 1.20034E-5 41655 0 NA
16-75654651-C-T p.Gly16Glu missense ADAT1 1 83308 1.20036E-5 41654 0 1.98856E-5
16-75654652-C-T p.Gly16Arg missense ADAT1 29 83308 3.48106E-4 41654 0 0.004375
16-75654654-T-C p.Tyr15Cys missense ADAT1 4 83304 4.80169E-5 41652 0 4.12589E-5
16-75654668-T-C p.Leu10Leu splice_region+synonymous ADAT1 1 83270 1.20091E-5 41635 0 3.18654E-5
16-75654670-G-A p.Leu10Leu synonymous ADAT1 1 83250 1.2012E-5 41625 0 8.2631E-6
16-75654685-C-T p.Asp5Asn missense ADAT1 11 83180 1.32243E-4 41590 0 0.00125
16-75654686-C-T p.Ala4Ala synonymous ADAT1 2 83170 2.40471E-5 41585 0 9.5584E-5
16-75654687-G-A p.Ala4Val missense ADAT1 1 83124 1.20302E-5 41562 0 1.59337E-4
16-75654688-C-T p.Ala4Thr missense ADAT1 1 83114 1.20317E-5 41557 0 3.32834E-5
16-75654689-G-T p.Thr3Thr synonymous ADAT1 1 83116 1.20314E-5 41558 0 NA
16-75654689-G-A p.Thr3Thr synonymous ADAT1 1 83116 1.20314E-5 41558 0 1.66625E-5
16-75654697-T-C p.Met1? start_lost ADAT1 2 83078 2.40738E-5 41539 0 8.36708E-6
16-75654720-T-TCTCATTTCTAGGGAGGCATCACAAGGCAGTATAGTTTA c.-21-3_-21-2insTAAACTATACTGCCTTGTGATGCCTCCCTAGAAATGAG splice_region ADAT1 12 82446 1.4555E-4 41223 5 NA
16-75654724-T-A c.-21-6A>T splice_region ADAT1 1 82230 1.2161E-5 41115 0 8.45809E-6
16-75656296-C-G c.-22+5G>C splice_region ADAT1 1 2944 3.39674E-4 1472 0 3.50475E-4
16-75656348-C-A c.-69G>T 5_prime_UTR_premature_start_codon_gain ADAT1 1 2958 3.38066E-4 1479 0 1.27453E-4
16-75656400-T-C c.-121A>G 5_prime_UTR_premature_start_codon_gain ADAT1 169 2930 0.0576792 1465 13 0.140083
16-75656623-T-C c.-344A>G 5_prime_UTR_premature_start_codon_gain ADAT1 1 1364 7.33138E-4 682 0 1.27389E-4
16-75656907-G-A c.-301C>T 5_prime_UTR_premature_start_codon_gain ADAT1 103 1354 0.0760709 677 0 0.100376
16-75657061-A-G c.-455T>C 5_prime_UTR_premature_start_codon_gain ADAT1 2 2738 7.3046E-4 1369 0 NA
16-75657072-G-A c.-466C>T 5_prime_UTR_premature_start_codon_gain ADAT1 12 2850 0.00421053 1425 0 0.0134765
16-75657141-G-A c.-89C>T 5_prime_UTR_premature_start_codon_gain ADAT1 2 2938 6.80735E-4 1469 0 0.00111451