Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-3649619-G-T p.Cys785* stop_gained ADAM33 15 83036 1.80645E-4 41518 0 0.00151057
20-3649623-G-A p.Ser784Phe missense ADAM33 1 83050 1.20409E-5 41525 0 NA
20-3649632-ATCTGGACT-A p.Gln778fs frameshift ADAM33 3717 82824 0.0448783 41412 93 0.0518793
20-3649636-G-A p.Gln780* stop_gained ADAM33 2 82516 2.42377E-5 41258 0 2.04115E-5
20-3649637-G-A p.Val779Val synonymous ADAM33 1 82500 1.21212E-5 41250 0 8.52282E-6
20-3649655-T-A c.2327-8A>T splice_region ADAM33 3 82960 3.6162E-5 41480 0 3.29522E-5
20-3649939-T-G c.2326+7A>C splice_region ADAM33 1 81090 1.2332E-5 40545 0 NA
20-3649945-C-T c.2326+1G>A splice_donor ADAM33 1 81194 1.23162E-5 40597 0 NA
20-3649949-G-T p.Gln775Lys missense ADAM33 89 81366 0.00109382 40683 0 8.1827E-4
20-3649959-C-T p.Ser771Ser synonymous ADAM33 2 81498 2.45405E-5 40749 0 1.9538E-4
20-3649987-T-C p.His762Arg missense ADAM33 15 81590 1.83846E-4 40795 0 9.57365E-5
20-3650007-G-A p.Asn755Asn synonymous ADAM33 1 81644 1.22483E-5 40822 0 5.04541E-4
20-3650012-C-T p.Glu754Lys missense ADAM33 1 81660 1.22459E-5 40830 0 NA
20-3650013-A-C p.Pro753Pro synonymous ADAM33 2 81652 2.44942E-5 40826 0 NA
20-3650194-C-T p.Leu751Leu splice_region+synonymous ADAM33 1 79130 1.26374E-5 39565 0 4.9334E-5
20-3650197-G-A p.Pro750Pro synonymous ADAM33 1 79150 1.26342E-5 39575 0 9.50137E-6
20-3650198-G-A p.Pro750Leu missense ADAM33 1 79116 1.26397E-5 39558 0 NA
20-3650204-G-C p.Pro748Arg missense ADAM33 1 79324 1.26065E-5 39662 0 NA
20-3650205-G-A p.Pro748Ser missense ADAM33 10669 78648 0.135655 39324 740 0.206504
20-3650206-C-T p.Gln747Gln synonymous ADAM33 55 79322 6.93376E-4 39661 0 0.00121359
20-3650215-G-T p.Ala744Ala synonymous ADAM33 1 79596 1.25634E-5 39798 0 4.5058E-6
20-3650234-A-G p.Met738Thr missense ADAM33 10639 79416 0.133965 39708 737 0.203125
20-3650235-T-C p.Met738Val missense ADAM33 1 80036 1.24944E-5 40018 0 1.56074E-5
20-3650244-C-T p.Val735Ile missense ADAM33 4 80206 4.98716E-5 40103 0 5.05561E-4
20-3650245-G-A p.Gly734Gly synonymous ADAM33 160 80188 0.00199531 40094 2 0.00392846
20-3650251-C-G p.Leu732Leu synonymous ADAM33 3 80536 3.72504E-5 40268 0 NA
20-3650252-A-AG p.Leu732fs frameshift ADAM33 1 80546 1.24153E-5 40273 0 9.58405E-5
20-3650254-G-A p.Pro731Pro synonymous ADAM33 2 80718 2.47776E-5 40359 0 NA
20-3650257-G-A p.His730His synonymous ADAM33 81 80804 0.00100243 40402 0 0.0020202
20-3650280-T-C p.Lys723Glu missense ADAM33 1 81302 1.22998E-5 40651 0 NA
20-3650284-G-T p.Gly721Gly splice_region+synonymous ADAM33 1 81328 1.22959E-5 40664 0 NA
20-3650288-A-C c.2163-4T>G splice_region ADAM33 2 81344 2.45869E-5 40672 0 8.14878E-5
20-3651646-AGCCTACCCACTGCACGCAGGGTCCCTTCTGCAGCCCCAGCTGCATCGCTGCAGATGGGCTCCTGGGAGTCGGTAGCAACACCAGGCCAG-A p.Leu694fs frameshift ADAM33 1 74860 1.33583E-5 37430 0 NA
20-3651661-C-T p.Ala718Ala synonymous ADAM33 2 76996 2.59754E-5 38498 0 2.11805E-4
20-3651662-G-T p.Ala718Glu missense ADAM33 1 77060 1.29769E-5 38530 0 NA
20-3651670-C-T p.Arg715Arg synonymous ADAM33 1 78232 1.27825E-5 39116 0 NA
20-3651678-A-C p.Cys713Gly missense ADAM33 144 78868 0.00182584 39434 1 0.00325297
20-3651681-C-T p.Gly712Ser missense ADAM33 2 79096 2.52857E-5 39548 0 NA
20-3651692-C-T p.Arg708Gln missense ADAM33 5 79796 6.26598E-5 39898 0 1.18284E-5
20-3651696-G-C p.Gln707Glu missense ADAM33 1 79992 1.25013E-5 39996 0 NA
20-3651707-C-T p.Gly703Glu missense ADAM33 1 80390 1.24394E-5 40195 0 NA
20-3651716-C-T p.Arg700Gln missense ADAM33 2 80540 2.48324E-5 40270 0 5.96611E-4
20-3651717-G-A p.Arg700* stop_gained ADAM33 9 80588 1.11679E-4 40294 0 3.18695E-5
20-3651718-G-A p.Tyr699Tyr synonymous ADAM33 1 80608 1.24057E-5 40304 0 3.79824E-5
20-3651739-G-A p.Ala692Ala synonymous ADAM33 12 81064 1.48031E-4 40532 0 2.41715E-4
20-3651741-CC-TG p.GlyAla691GlyThr missense ADAM33 1 81114 1.23283E-5 40557 0 NA
20-3651742-C-G p.Gly691Gly synonymous ADAM33 25423 80364 0.316348 40182 4590 0.419145
20-3651746-G-A p.Pro690Leu missense ADAM33 1 81252 1.23074E-5 40626 0 NA
20-3651748-G-A p.Leu689Leu synonymous ADAM33 1 81288 1.23019E-5 40644 0 3.11801E-5
20-3651765-C-T p.Val684Ile missense ADAM33 5545 81234 0.0682596 40617 221 0.103828
20-3651766-G-T p.Ser683Arg missense ADAM33 3 81432 3.68406E-5 40716 0 9.56511E-5
20-3651766-G-A p.Ser683Ser synonymous ADAM33 4 81432 4.91207E-5 40716 0 NA
20-3651791-G-T p.Thr675Asn missense ADAM33 139 81704 0.00170126 40852 2 0.00454087
20-3651794-T-A p.Asp674Val missense ADAM33 3 81690 3.67242E-5 40845 0 4.02091E-5
20-3651804-C-T c.2015-4G>A splice_region ADAM33 12 81748 1.46793E-4 40874 1 2.56908E-4
20-3651804-C-A c.2015-4G>T splice_region ADAM33 1 81748 1.22327E-5 40874 0 3.18939E-5
20-3651805-G-A c.2015-5C>T splice_region ADAM33 3 81798 3.66757E-5 40899 0 9.42276E-6
20-3651805-G-C c.2015-5C>G splice_region ADAM33 3 81798 3.66757E-5 40899 0 9.42276E-6
20-3651887-C-T p.Glu671Lys missense ADAM33 4 82538 4.84625E-5 41269 0 0.00100806
20-3651902-C-G p.Gly666Arg missense ADAM33 1 82652 1.20989E-5 41326 0 NA
20-3651910-A-G p.Met663Thr missense ADAM33 2 82692 2.41861E-5 41346 0 3.98057E-6
20-3651912-G-A p.Ser662Ser synonymous ADAM33 3 82682 3.62836E-5 41341 0 3.18552E-5
20-3651919-C-A p.Gly660Val missense ADAM33 1 82702 1.20916E-5 41351 0 NA
20-3651920-C-A p.Gly660Cys missense ADAM33 2 82712 2.41803E-5 41356 0 NA
20-3651926-C-A p.Gly658Cys missense ADAM33 1 82722 1.20887E-5 41361 0 8.26911E-6
20-3651931-T-G p.Lys656Thr missense ADAM33 31 82740 3.74668E-4 41370 0 5.41781E-4
20-3651939-G-A p.Phe653Phe synonymous ADAM33 1 82702 1.20916E-5 41351 0 NA
20-3651948-A-G p.Ala650Ala synonymous ADAM33 1 82706 1.2091E-5 41353 0 8.30882E-6
20-3651971-A-G p.Cys643Arg missense ADAM33 1 82856 1.20691E-5 41428 0 NA
20-3651980-T-G p.Asn640His missense ADAM33 1 82806 1.20764E-5 41403 0 NA
20-3651986-T-C p.Asn638Asp missense ADAM33 1 82812 1.20755E-5 41406 0 8.27321E-6
20-3651992-C-G p.Val636Leu missense+splice_region ADAM33 1 82796 1.20779E-5 41398 0 NA
20-3651996-CAGAGA-C c.1906-9_1906-5delTCTCT splice_region ADAM33 1 82796 1.20779E-5 41398 0 8.27801E-6
20-3651998-GA-G c.1906-7delT splice_region ADAM33 1 82816 1.2075E-5 41408 0 NA
20-3651998-GA-TT c.1906-7_1906-6delTCinsAA splice_region ADAM33 1 82816 1.2075E-5 41408 0 NA
20-3652063-C-A c.1983+3G>T splice_region ADAM33 1 82778 1.20805E-5 41389 0 3.98921E-6
20-3652068-C-T p.Gly661Arg missense+splice_region ADAM33 1 82740 1.20861E-5 41370 0 3.18492E-5
20-3652073-C-T p.Ser659Asn missense ADAM33 1 82718 1.20893E-5 41359 0 NA
20-3652076-T-TGGCA p.His658fs frameshift ADAM33 1 82700 1.20919E-5 41350 0 NA
20-3652092-AGC-A p.Arg652fs frameshift ADAM33 1 82572 1.21106E-5 41286 0 NA
20-3652093-GC-G p.Arg652fs frameshift ADAM33 1 82564 1.21118E-5 41282 0 NA
20-3652094-C-T p.Arg652His missense ADAM33 13 82524 1.5753E-4 41262 0 2.08873E-4
20-3652094-C-A p.Arg652Leu missense ADAM33 4 82522 4.84719E-5 41261 0 6.25E-4
20-3652095-G-A p.Arg652Cys missense ADAM33 1 82516 1.21189E-5 41258 0 2.50647E-5
20-3652107-G-A p.Gln648* stop_gained ADAM33 1 82428 1.21318E-5 41214 0 NA
20-3652123-G-T p.Cys642* stop_gained ADAM33 1 82186 1.21675E-5 41093 0 NA
20-3652127-C-T p.Arg641His missense ADAM33 1 82092 1.21815E-5 41046 0 5.04354E-5
20-3652128-G-A p.Arg641Cys missense ADAM33 2 82076 2.43677E-5 41038 0 5.0477E-5
20-3652139-C-T p.Cys637Tyr missense ADAM33 1 81978 1.21984E-5 40989 0 3.18471E-5
20-3652144-C-G c.1906-1G>C splice_acceptor ADAM33 1 81964 1.22005E-5 40982 0 1.69308E-5
20-3652147-C-T c.1906-4G>A splice_region ADAM33 6 81834 7.33192E-5 40917 0 1.28567E-4
20-3652148-G-A c.1906-5C>T splice_region ADAM33 3 81786 3.66811E-5 40893 0 2.00834E-5
20-3652226-A-C c.1905+2T>G splice_donor ADAM33 1 80444 1.2431E-5 40222 0 NA
20-3652227-C-T c.1905+1G>A splice_donor ADAM33 1 80464 1.24279E-5 40232 0 5.11247E-5
20-3652233-T-G p.Arg634Arg synonymous ADAM33 1 80536 1.24168E-5 40268 0 4.70172E-6
20-3652243-C-T p.Gln630Gln synonymous ADAM33 5 80658 6.19901E-5 40329 0 1.81715E-4
20-3652247-G-A p.Thr629Ile missense ADAM33 3 80650 3.71978E-5 40325 0 5.04541E-4
20-3652249-G-A p.Gly628Gly synonymous ADAM33 1 80658 1.2398E-5 40329 0 NA
20-3652254-G-T p.Pro627Thr missense ADAM33 1 80802 1.23759E-5 40401 0 NA
20-3652275-G-A p.Leu620Phe missense ADAM33 7 81366 8.6031E-5 40683 0 1.26891E-4
20-3652292-C-G p.Ser614Thr missense ADAM33 34 81632 4.16503E-4 40816 0 0.00101523
20-3652293-T-G p.Ser614Arg missense ADAM33 1 81666 1.2245E-5 40833 0 NA
20-3652298-A-T p.Leu612His missense ADAM33 62 81718 7.58707E-4 40859 1 0.00206508
20-3652298-A-G p.Leu612Pro missense ADAM33 10 81720 1.22369E-4 40860 0 8.37194E-5
20-3652306-G-A p.Ala609Ala synonymous ADAM33 4 81858 4.88651E-5 40929 0 2.82757E-5
20-3652307-G-T p.Ala609Asp missense ADAM33 1 81824 1.22214E-5 40912 0 NA
20-3652308-C-G p.Ala609Pro missense ADAM33 1 81874 1.22139E-5 40937 0 5.68343E-5
20-3652342-A-T p.Val597Val synonymous ADAM33 1 81948 1.22029E-5 40974 0 NA
20-3652344-C-T p.Val597Ile missense ADAM33 1 81944 1.22035E-5 40972 0 6.37511E-5
20-3652345-G-A p.Thr596Thr synonymous ADAM33 7 81936 8.54325E-5 40968 0 0.0025
20-3652356-CTGG-C p.Pro592del conservative_inframe_deletion ADAM33 1 81916 1.22076E-5 40958 0 5.05051E-4
20-3652358-G-A p.Pro592Leu missense ADAM33 1 81890 1.22115E-5 40945 0 3.18735E-5
20-3652360-C-A p.Val591Val synonymous ADAM33 42 81884 5.12921E-4 40942 1 0.004375
20-3652365-T-C p.Met590Val missense ADAM33 296 81848 0.00361646 40924 2 0.00545037
20-3652367-T-G p.His589Pro missense ADAM33 2 81854 2.44337E-5 40927 0 NA
20-3652369-C-T p.Pro588Pro synonymous ADAM33 2 81822 2.44433E-5 40911 0 0.00252781
20-3652370-G-A p.Pro588Leu missense ADAM33 4 81832 4.88806E-5 40916 0 3.18796E-5
20-3652374-C-T p.Ala587Thr missense ADAM33 1 81794 1.22258E-5 40897 0 1.42873E-4
20-3652380-G-A p.Leu585Leu synonymous ADAM33 7 81780 8.55955E-5 40890 0 2.93186E-5
20-3652398-G-A p.Gln579* stop_gained ADAM33 1 81578 1.22582E-5 40789 0 1.31122E-4
20-3652412-C-T p.Gly574Glu missense ADAM33 1 81428 1.22808E-5 40714 0 NA
20-3652423-A-G p.Asp570Asp synonymous ADAM33 1 81294 1.2301E-5 40647 0 NA
20-3652425-C-T p.Asp570Asn missense+splice_region ADAM33 3 81294 3.69031E-5 40647 0 6.37918E-5
20-3652429-G-A c.1707-3C>T splice_region ADAM33 1 81242 1.23089E-5 40621 0 NA
20-3652434-G-A c.1707-8C>T splice_region ADAM33 1 81222 1.23119E-5 40611 0 2.12495E-4
20-3652517-TCC-CCT c.1706+5_1706+7delGGAinsAGG splice_region ADAM33 1 81292 1.23013E-5 40646 0 NA
20-3652532-A-C p.Cys566Trp missense ADAM33 9 81356 1.10625E-4 40678 0 0.00104058
20-3652537-G-A p.Pro565Ser missense ADAM33 1 81368 1.22898E-5 40684 0 NA
20-3652549-C-T p.Gly561Ser missense ADAM33 9 81406 1.10557E-4 40703 0 6.25297E-6
20-3652549-C-A p.Gly561Cys missense ADAM33 1 81406 1.22841E-5 40703 0 NA
20-3652550-C-T p.Glu560Glu synonymous ADAM33 1 81424 1.22814E-5 40712 0 4.71476E-5
20-3652552-C-T p.Glu560Lys missense ADAM33 3 81422 3.68451E-5 40711 0 0.00155119
20-3652553-G-A p.Ser559Ser synonymous ADAM33 1 81402 1.22847E-5 40701 0 3.18654E-5
20-3652554-C-A p.Ser559Ile missense ADAM33 27 81406 3.31671E-4 40703 0 2.35338E-4
20-3652563-C-T p.Gly556Asp missense ADAM33 2 81438 2.45586E-5 40719 0 6.37105E-5
20-3652564-C-T p.Gly556Ser missense ADAM33 2 81440 2.4558E-5 40720 0 1.23729E-5
20-3652564-C-G p.Gly556Arg missense ADAM33 7 81440 8.59529E-5 40720 0 1.59246E-4
20-3652581-T-G p.Asp550Ala missense ADAM33 1 81470 1.22745E-5 40735 0 NA
20-3652582-C-T p.Asp550Asn missense ADAM33 19 81472 2.33209E-4 40736 0 0.00102459
20-3652586-C-T p.Ala548Ala synonymous ADAM33 3 81508 3.68062E-5 40754 0 0.00204918
20-3652597-C-A p.Val545Leu missense ADAM33 16 81500 1.96319E-4 40750 0 1.40292E-4
20-3652597-C-T p.Val545Met missense ADAM33 2 81500 2.45399E-5 40750 0 6.13926E-6
20-3652605-A-C p.Phe542Cys missense ADAM33 1 81484 1.22723E-5 40742 0 6.16037E-6
20-3652611-G-A p.Ala540Val missense ADAM33 5 81466 6.13753E-5 40733 0 1.23862E-5
20-3652615-C-T p.Glu539Lys missense ADAM33 10 81446 1.22781E-4 40723 0 0.00102564
20-3652625-G-T p.His535Gln missense ADAM33 6 81450 7.36648E-5 40725 0 1.44175E-4
20-3652635-G-A c.1598-3C>T splice_region ADAM33 4 81406 4.91364E-5 40703 0 6.25892E-5
20-3652638-G-A c.1598-6C>T splice_region ADAM33 1 81366 1.22901E-5 40683 0 NA
20-3652780-C-T c.1597+1G>A splice_donor ADAM33 2 81668 2.44894E-5 40834 0 NA
20-3652784-G-GC p.Pro532fs frameshift ADAM33 2 81664 2.44906E-5 40832 0 3.18593E-5
20-3652788-C-G p.Trp530Cys missense ADAM33 1 81738 1.22342E-5 40869 0 2.0226E-5
20-3652792-A-G p.Leu529Pro missense ADAM33 2 81760 2.44618E-5 40880 0 NA
20-3652793-G-A p.Leu529Phe missense ADAM33 2 81772 2.44582E-5 40886 0 8.79817E-6
20-3652795-T-A p.Gln528Leu missense ADAM33 1 81804 1.22243E-5 40902 0 3.18573E-5
20-3652796-G-C p.Gln528Glu missense ADAM33 2 81780 2.44559E-5 40890 0 8.06901E-6
20-3652796-G-A p.Gln528* stop_gained ADAM33 1 81780 1.22279E-5 40890 0 NA
20-3652812-C-T p.Leu522Leu synonymous ADAM33 2 81926 2.44123E-5 40963 0 4.01926E-6
20-3652820-G-A p.Pro520Ser missense ADAM33 6 82012 7.316E-5 41006 0 6.37024E-5
20-3652821-A-G p.Cys519Cys synonymous ADAM33 1 82002 1.21948E-5 41001 0 8.51992E-6
20-3652824-T-C p.Ala518Ala synonymous ADAM33 5 82036 6.09489E-5 41018 0 2.00441E-5
20-3652825-G-T p.Ala518Glu missense ADAM33 3 82008 3.65818E-5 41004 0 4.253E-5
20-3652826-C-T p.Ala518Thr missense ADAM33 1 82000 1.21951E-5 41000 0 8.50658E-6
20-3652826-C-G p.Ala518Pro missense ADAM33 2 82000 2.43902E-5 41000 0 3.40263E-5
20-3652835-A-G p.Trp515Arg missense ADAM33 648 82062 0.00789647 41031 18 0.0185445
20-3652850-C-T p.Gly510Ser missense ADAM33 2 82146 2.43469E-5 41073 0 0.001875
20-3652862-G-A p.Pro506Ser missense ADAM33 2 82104 2.43593E-5 41052 0 NA
20-3652862-G-T p.Pro506Thr missense ADAM33 1 82104 1.21797E-5 41052 0 1.68209E-5
20-3652870-T-C p.Asp503Gly missense ADAM33 1 82028 1.2191E-5 41014 0 5.04032E-4
20-3652873-A-G p.Leu502Pro missense ADAM33 2 82042 2.43778E-5 41021 0 9.55779E-5
20-3652881-A-T p.Val499Val synonymous ADAM33 283 81968 0.00345257 40984 2 0.00614963
20-3652893-A-G p.Cys495Cys synonymous ADAM33 1 81680 1.22429E-5 40840 0 4.19836E-5
20-3652913-T-C p.Thr489Ala missense ADAM33 1 81302 1.22998E-5 40651 0 NA
20-3652930-T-G p.Asp483Ala missense ADAM33 1 81092 1.23317E-5 40546 0 8.4076E-6
20-3652941-C-A p.Met479Ile missense ADAM33 1 80816 1.23738E-5 40408 0 NA
20-3652942-A-G p.Met479Thr missense ADAM33 1 80762 1.23821E-5 40381 0 NA
20-3652958-G-A p.Leu474Leu synonymous ADAM33 1 79826 1.25272E-5 39913 0 NA
20-3652959-C-T p.Ala473Ala synonymous ADAM33 2 79660 2.51067E-5 39830 0 4.82746E-5
20-3652963-C-A p.Gly472Val missense ADAM33 1 79506 1.25777E-5 39753 0 3.19939E-5
20-3652978-TGCGCA-T c.1402-7_1402-3delTGCGC splice_region ADAM33 2370 77852 0.0304424 38926 88 0.0436252
20-3652978-T-G c.1402-2A>C splice_acceptor ADAM33 2 77906 2.5672E-5 38953 0 NA
20-3652981-G-A c.1402-5C>T splice_region ADAM33 10 76042 1.31506E-4 38021 0 5.10302E-4
20-3653183-C-T c.1401+1G>A splice_donor ADAM33 1 59038 1.69382E-5 29519 0 NA
20-3653190-G-A p.Arg465Arg synonymous ADAM33 2 59616 3.3548E-5 29808 0 NA
20-3653195-C-T p.Val464Met missense ADAM33 8 59924 1.33502E-4 29962 0 6.37186E-4
20-3653220-G-T p.Ala455Ala synonymous ADAM33 1 61692 1.62096E-5 30846 0 NA
20-3653222-C-T p.Ala455Thr missense ADAM33 10 61682 1.62122E-4 30841 0 4.46059E-4
20-3653223-C-T p.Gly454Gly synonymous ADAM33 276 61902 0.00445866 30951 2 0.00956697
20-3653226-C-T p.Pro453Pro synonymous ADAM33 1 62128 1.60958E-5 31064 0 NA
20-3653262-G-C p.Asp441Glu missense ADAM33 1 63206 1.58213E-5 31603 0 9.55597E-5
20-3653265-G-A p.Arg440Arg synonymous ADAM33 2 62816 3.1839E-5 31408 0 1.80365E-4
20-3653267-G-C p.Arg440Gly missense ADAM33 1 62962 1.58826E-5 31481 0 4.10411E-5
20-3653269-C-T p.Cys439Tyr missense ADAM33 5 63030 7.93273E-5 31515 0 1.72414E-5
20-3653275-T-C c.1312-2A>G splice_acceptor ADAM33 3 63230 4.74458E-5 31615 0 NA
20-3653277-G-A c.1312-4C>T splice_region ADAM33 2 63248 3.16216E-5 31624 0 2.05563E-5
20-3653278-G-C c.1312-5C>G splice_region ADAM33 2 63152 3.16696E-5 31576 0 3.18674E-5
20-3653364-T-A c.1311+4A>T splice_region ADAM33 8 60838 1.31497E-4 30419 0 3.509E-4
20-3653377-G-A p.Gly434Gly synonymous ADAM33 2 59836 3.34247E-5 29918 0 1.44413E-5
20-3653378-C-G p.Gly434Ala missense ADAM33 1 59928 1.66867E-5 29964 0 1.45003E-5
20-3653380-G-A p.Cys433Cys synonymous ADAM33 2 59644 3.35323E-5 29822 0 3.18573E-5
20-3653380-G-T p.Cys433* stop_gained ADAM33 1 59646 1.67656E-5 29823 0 NA
20-3653393-T-C p.Glu429Gly missense ADAM33 17 58496 2.90618E-4 29248 0 6.28141E-4
20-3653419-G-A p.Cys420Cys synonymous ADAM33 5 56078 8.91615E-5 28039 0 3.05477E-5
20-3653420-C-T p.Cys420Tyr missense ADAM33 3 56102 5.3474E-5 28051 0 7.43052E-5
20-3653423-A-G p.Leu419Pro missense ADAM33 3 55792 5.37711E-5 27896 0 1.27405E-4
20-3653425-C-G p.Ala418Ala synonymous ADAM33 2 55378 3.61154E-5 27689 0 NA
20-3653426-G-C p.Ala418Gly missense ADAM33 2 55232 3.62109E-5 27616 0 NA
20-3653429-G-A p.Pro417Leu missense ADAM33 8 55072 1.45264E-4 27536 0 0.00101833
20-3653438-G-A p.Pro414Leu missense ADAM33 1 53946 1.85371E-5 26973 0 3.51413E-5
20-3653443-T-C p.Gly412Gly synonymous ADAM33 2 53284 3.75347E-5 26642 0 NA
20-3653447-G-A p.Pro411Leu missense ADAM33 7 52886 1.3236E-4 26443 0 0.00128866
20-3653448-G-A p.Pro411Ser missense ADAM33 1 52728 1.89653E-5 26364 0 1.48996E-5
20-3653454-G-A p.Pro409Ser missense ADAM33 1 52034 1.92182E-5 26017 0 NA
20-3653456-G-A p.Ala408Val missense ADAM33 1 51742 1.93267E-5 25871 0 NA
20-3653466-G-A p.Leu405Phe missense ADAM33 1 50932 1.9634E-5 25466 0 4.00342E-5
20-3653473-G-T p.Gly402Gly synonymous ADAM33 1 49996 2.00016E-5 24998 0 9.55536E-5
20-3653477-C-T p.Gly401Asp missense ADAM33 2 49638 4.02917E-5 24819 0 NA
20-3653481-C-G p.Gly400Arg missense ADAM33 3 49660 6.04108E-5 24830 0 1.28502E-5
20-3653481-C-A p.Gly400Trp missense ADAM33 1 49660 2.01369E-5 24830 0 1.15652E-4
20-3653482-C-CTT p.Gly400fs frameshift ADAM33 1 49480 2.02102E-5 24740 0 1.28189E-4
20-3653495-G-A p.Ala395Val missense ADAM33 139 48368 0.0028738 24184 1 0.00322095
20-3653500-C-T p.Leu393Leu synonymous ADAM33 2 48002 4.16649E-5 24001 0 6.65779E-4
20-3653514-T-C p.Ser389Gly missense ADAM33 1 47166 2.12017E-5 23583 0 NA
20-3653520-C-T p.Ala387Thr missense ADAM33 2 46486 4.30237E-5 23243 0 3.18512E-5
20-3653550-C-A c.1134-5G>T splice_region ADAM33 1 45142 2.21523E-5 22571 0 NA
20-3653551-G-A c.1134-6C>T splice_region ADAM33 3 45008 6.66548E-5 22504 0 5.5091E-5
20-3654002-C-T p.Gly378Arg missense+splice_region ADAM33 1 40686 2.45785E-5 20343 0 7.40192E-6
20-3654024-G-A p.Gly370Gly synonymous ADAM33 2 41016 4.87615E-5 20508 1 NA
20-3654034-T-C p.Glu367Gly missense ADAM33 5 41234 1.21259E-4 20617 0 6.38366E-5
20-3654041-C-A p.Ala365Ser missense ADAM33 32 41514 7.70824E-4 20757 0 0.00421941
20-3654044-C-T p.Ala364Thr missense ADAM33 1 41726 2.39659E-5 20863 0 NA
20-3654048-C-T p.Val362Val synonymous ADAM33 1 41960 2.38322E-5 20980 0 NA
20-3654050-C-A p.Val362Leu missense ADAM33 5 42018 1.18997E-4 21009 0 8.80178E-4
20-3654052-CA-C p.Cys361fs frameshift ADAM33 1 42072 2.37688E-5 21036 0 NA
20-3654063-G-C p.Pro357Pro synonymous ADAM33 1 42868 2.33274E-5 21434 0 NA
20-3654069-G-A p.His355His synonymous ADAM33 2 43168 4.63306E-5 21584 0 2.45018E-4
20-3654079-C-T p.Gly352Asp missense ADAM33 4 43842 9.12367E-5 21921 0 5.17063E-4
20-3654108-G-C p.Thr342Thr synonymous ADAM33 1 45870 2.18007E-5 22935 0 2.10473E-5
20-3654128-G-A p.Pro336Ser missense ADAM33 697 45896 0.0151865 22948 31 0.0357371
20-3654131-G-T p.Leu335Ile missense ADAM33 1 45736 2.18646E-5 22868 0 NA
20-3654144-C-T c.991-1G>A splice_acceptor ADAM33 1 45468 2.19935E-5 22734 0 NA
20-3654146-G-T c.991-3C>A splice_region ADAM33 3 45376 6.61142E-5 22688 0 5.81444E-5
20-3654150-G-GGCC c.991-8_991-7insGGC splice_region ADAM33 2 44948 4.44959E-5 22474 0 1.73273E-4
20-3654151-G-A c.991-8C>T splice_region ADAM33 2 44804 4.46389E-5 22402 0 2.17401E-5
20-3654216-C-T c.990+5G>A splice_region ADAM33 13 40572 3.20418E-4 20286 0 8.93655E-4
20-3654227-C-T p.Val328Val synonymous ADAM33 2 40254 4.96845E-5 20127 0 NA
20-3654229-C-A p.Val328Leu missense ADAM33 1 40158 2.49016E-5 20079 0 6.33714E-4
20-3654239-G-C p.Ser324Arg missense ADAM33 4 39900 1.00251E-4 19950 0 3.18979E-5
20-3654244-C-T p.Glu323Lys missense ADAM33 3 39566 7.58227E-5 19783 1 NA
20-3654250-G-C p.Arg321Gly missense ADAM33 1 39610 2.52462E-5 19805 0 NA
20-3654254-C-T p.Met319Ile missense ADAM33 2 39682 5.04007E-5 19841 0 NA
20-3654266-G-A p.Pro315Pro synonymous ADAM33 4 38800 1.03093E-4 19400 0 2.55705E-4
20-3654266-G-C p.Pro315Pro synonymous ADAM33 2 38800 5.15464E-5 19400 0 3.19632E-5
20-3654287-G-A p.Gly308Gly synonymous ADAM33 31 38516 8.0486E-4 19258 0 0.0020979
20-3654292-G-A p.Gln307* stop_gained ADAM33 1 38410 2.60349E-5 19205 0 NA
20-3654298-C-T p.Ala305Thr missense ADAM33 2 38314 5.22002E-5 19157 0 NA
20-3654306-C-T c.906-1G>A splice_acceptor ADAM33 1 38432 2.602E-5 19216 0 NA
20-3654307-TG-T c.906-3delC splice_region ADAM33 1 38364 2.60661E-5 19182 0 NA
20-3654308-G-T c.906-3C>A splice_region ADAM33 1 38444 2.60119E-5 19222 0 NA
20-3654387-C-A c.905+5G>T splice_region ADAM33 79 43672 0.00180894 21836 0 0.00233585
20-3654387-C-G c.905+5G>C splice_region ADAM33 1 43674 2.28969E-5 21837 0 3.82848E-4
20-3654418-C-T p.Arg293Arg synonymous ADAM33 1 47512 2.10473E-5 23756 0 NA
20-3654429-A-G p.Trp290Arg missense ADAM33 1 50538 1.97871E-5 25269 0 NA
20-3654431-AGC-GGT p.GlyLeu288GlyPro missense ADAM33 3 50976 5.88512E-5 25488 0 NA
20-3654431-A-G p.Leu289Pro missense ADAM33 3 50976 5.88512E-5 25488 0 0.00103306
20-3654433-C-T p.Gly288Gly synonymous ADAM33 10245 50112 0.204442 25056 1036 0.334832
20-3654436-C-T p.Arg287Arg synonymous ADAM33 2 52068 3.84113E-5 26034 0 NA
20-3654441-G-T p.Arg286Ser missense ADAM33 1 53352 1.87434E-5 26676 0 1.47042E-5
20-3654451-G-A p.Phe282Phe synonymous ADAM33 2 56754 3.52398E-5 28377 0 0.00152749
20-3654453-A-AG p.Phe282fs frameshift ADAM33 1 57336 1.7441E-5 28668 0 2.22982E-4
20-3654473-G-C p.Ala275Gly missense ADAM33 1 63182 1.58273E-5 31591 0 NA
20-3654482-G-A p.Thr272Met missense ADAM33 3 65888 4.55318E-5 32944 0 1.27657E-4
20-3654489-G-A p.Arg270Cys missense ADAM33 1 68022 1.47011E-5 34011 0 8.64528E-5
20-3654501-G-A p.Arg266Trp missense ADAM33 1 71096 1.40655E-5 35548 0 3.51775E-4
20-3654502-C-A p.Glu265Asp missense ADAM33 1 71610 1.39645E-5 35805 0 NA
20-3654502-C-T p.Glu265Glu synonymous ADAM33 2 71610 2.79291E-5 35805 0 6.25E-4
20-3654504-C-T p.Glu265Lys missense ADAM33 12 72236 1.66122E-4 36118 0 1.45163E-4
20-3654511-C-T p.Val262Val synonymous ADAM33 1 73828 1.3545E-5 36914 0 2.47733E-5
20-3654522-C-T p.Gly259Ser missense ADAM33 1 74950 1.33422E-5 37475 0 2.07202E-5
20-3654548-G-A p.Thr250Ile missense ADAM33 3 77364 3.87777E-5 38682 0 5.01097E-6
20-3654554-A-G p.Leu248Pro missense ADAM33 2 77620 2.57666E-5 38810 0 NA
20-3654563-G-C c.739-5C>G splice_region ADAM33 3 77956 3.84832E-5 38978 0 3.18796E-5
20-3654707-C-A c.738+4G>T splice_region ADAM33 1 82400 1.21359E-5 41200 0 2.54858E-4
20-3654708-A-C c.738+3T>G splice_region ADAM33 4 82384 4.85531E-5 41192 0 6.25E-4
20-3654711-C-A p.Gln246His missense+splice_region ADAM33 1 82496 1.21218E-5 41248 0 NA
20-3654714-GTCCA-G p.Val244fs frameshift ADAM33 1 82496 1.21218E-5 41248 0 8.26214E-6
20-3654719-CGT-GGA p.TyrVal243PheLeu missense ADAM33 1 82596 1.21071E-5 41298 0 NA
20-3654720-G-A p.Tyr243Tyr synonymous ADAM33 3 82632 3.63055E-5 41316 0 3.18817E-5
20-3654724-T-C p.Asn242Ser missense ADAM33 2 82724 2.41768E-5 41362 0 3.97918E-6
20-3654726-G-A p.Ala241Ala synonymous ADAM33 1 82764 1.20825E-5 41382 0 NA
20-3654728-C-T p.Ala241Thr missense ADAM33 1 82786 1.20793E-5 41393 0 NA
20-3654739-A-G p.Leu237Pro missense ADAM33 1 82940 1.20569E-5 41470 0 NA
20-3654743-G-C p.Arg236Gly missense ADAM33 1 82938 1.20572E-5 41469 0 3.18695E-5
20-3654746-G-C p.Gln235Glu missense ADAM33 1 83000 1.20482E-5 41500 0 3.18613E-5
20-3654749-T-G p.Lys234Gln missense ADAM33 3 83002 3.61437E-5 41501 0 3.29951E-5
20-3654759-C-T p.Leu230Leu synonymous ADAM33 1 83044 1.20418E-5 41522 0 3.18674E-5
20-3654764-T-A p.Asn229Tyr missense ADAM33 1 83056 1.20401E-5 41528 0 NA
20-3654770-G-A p.His227Tyr missense ADAM33 1 83086 1.20357E-5 41543 0 NA
20-3654772-C-G p.Arg226Pro missense ADAM33 6 83076 7.2223E-5 41538 0 1.64959E-5
20-3654773-G-A p.Arg226Trp missense ADAM33 1 83084 1.2036E-5 41542 0 1.91217E-4
20-3654776-T-A p.Thr225Ser missense ADAM33 1 83086 1.20357E-5 41543 0 NA
20-3654780-G-C p.Phe223Leu missense+splice_region ADAM33 1 83106 1.20328E-5 41553 0 1.19336E-5
20-3654787-G-A c.667-5C>T splice_region ADAM33 9 83128 1.08267E-4 41564 0 2.23072E-4
20-3654881-C-T p.Val217Val synonymous ADAM33 2 82966 2.41063E-5 41483 0 NA
20-3654885-A-G p.Ile216Thr missense ADAM33 1 82978 1.20514E-5 41489 0 NA
20-3654886-T-G p.Ile216Leu missense ADAM33 1 82978 1.20514E-5 41489 0 NA
20-3654893-T-C p.Glu213Glu synonymous ADAM33 1 82882 1.20653E-5 41441 0 NA
20-3654917-C-A p.Ala205Ala synonymous ADAM33 1 82286 1.21527E-5 41143 0 NA
20-3654917-C-T p.Ala205Ala synonymous ADAM33 2 82286 2.43055E-5 41143 0 3.98165E-6
20-3654920-T-C p.Glu204Glu synonymous ADAM33 3 82186 3.65026E-5 41093 0 1.19449E-5
20-3654924-C-T p.Arg203Gln missense ADAM33 6 82018 7.31547E-5 41009 0 2.48826E-5
20-3654931-C-T p.Gly201Ser missense+splice_region ADAM33 1 81628 1.22507E-5 40814 0 3.98549E-6
20-3654936-G-A c.601-5C>T splice_region ADAM33 2 81178 2.46372E-5 40589 0 1.99402E-5
20-3654937-GA-G c.601-7delT splice_region ADAM33 1 81148 1.23232E-5 40574 0 NA
20-3655148-G-C c.600+3C>G splice_region ADAM33 1 50056 1.99776E-5 25028 0 8.14041E-6
20-3655165-C-T p.Gly196Ser missense ADAM33 1 51358 1.94712E-5 25679 0 3.18451E-5
20-3655167-C-G p.Gly195Ala missense ADAM33 1 51740 1.93274E-5 25870 0 2.83976E-5
20-3655175-G-T p.Ser192Arg missense ADAM33 1 53326 1.87526E-5 26663 0 1.66822E-5
20-3655175-G-C p.Ser192Arg missense ADAM33 1 53326 1.87526E-5 26663 0 8.34112E-6
20-3655187-C-T p.Ala188Ala synonymous ADAM33 2 55564 3.59945E-5 27782 0 2.4985E-5
20-3655204-C-G p.Asp183His missense ADAM33 2 59064 3.38616E-5 29532 0 6.25E-4
20-3655219-T-C p.Thr178Ala missense ADAM33 2718 62226 0.0436795 31113 56 0.0477193
20-3655222-C-A p.Gly177* stop_gained ADAM33 2 63326 3.15826E-5 31663 0 1.24287E-4
20-3655232-G-A p.Leu173Leu synonymous ADAM33 1 65760 1.52068E-5 32880 0 NA
20-3655234-G-A p.Leu173Phe missense ADAM33 1 66206 1.51044E-5 33103 0 4.02505E-6
20-3655239-T-G p.Gln171Pro missense ADAM33 2 68098 2.93694E-5 34049 0 4.01994E-6
20-3655246-T-C p.Met169Val missense ADAM33 1 69946 1.42967E-5 34973 0 3.18573E-5
20-3655248-C-T p.Arg168Gln missense ADAM33 4 70490 5.67456E-5 35245 0 1.40612E-4
20-3655249-G-A p.Arg168Trp missense ADAM33 4 70852 5.64557E-5 35426 1 3.18492E-5
20-3655249-G-C p.Arg168Gly missense ADAM33 2 70854 2.82271E-5 35427 0 1.20624E-5
20-3655254-A-T p.Ile166Asn missense ADAM33 2 72288 2.76671E-5 36144 0 3.18695E-5
20-3655259-G-A p.His164His synonymous ADAM33 3 73092 4.10442E-5 36546 0 1.65295E-5
20-3655276-T-C p.Lys159Glu missense ADAM33 1 76448 1.30808E-5 38224 0 8.26651E-6
20-3655280-G-A p.Gly157Gly synonymous ADAM33 2 76736 2.60634E-5 38368 0 NA
20-3655284-C-T p.Arg156Gln missense ADAM33 57 77268 7.37692E-4 38634 0 0.0018803
20-3655284-C-CG p.Arg156fs frameshift ADAM33 2 77268 2.58839E-5 38634 0 NA
20-3655285-G-A p.Arg156Trp missense ADAM33 2 77494 2.58084E-5 38747 0 8.01719E-6
20-3655294-A-C p.Trp153Gly missense ADAM33 2 78616 2.54401E-5 39308 0 NA
20-3655299-C-T p.Arg151His missense ADAM33 10 78940 1.26678E-4 39470 0 7.45416E-5
20-3655304-A-G p.Tyr149Tyr synonymous ADAM33 6 79434 7.55344E-5 39717 0 4.02389E-6
20-3655323-C-T p.Ser143Asn missense ADAM33 1 80150 1.24766E-5 40075 0 NA
20-3655348-G-A c.411-8C>T splice_region ADAM33 1 80578 1.24103E-5 40289 0 8.4621E-6
20-3655412-G-A c.410+8C>T splice_region ADAM33 1 81690 1.22414E-5 40845 0 NA
20-3655415-C-T c.410+5G>A splice_region ADAM33 2 81684 2.44846E-5 40842 0 4.12069E-6
20-3655419-C-A c.410+1G>T splice_donor ADAM33 3 81728 3.67071E-5 40864 0 1.64066E-5
20-3655434-G-A p.Thr132Thr synonymous ADAM33 2 81882 2.44254E-5 40941 0 8.56267E-6
20-3655447-A-G p.Val128Ala missense ADAM33 1 81952 1.22023E-5 40976 0 3.18634E-5
20-3655452-G-T p.Ser126Ser synonymous ADAM33 1 82006 1.21942E-5 41003 0 NA
20-3655452-G-A p.Ser126Ser synonymous ADAM33 1 82006 1.21942E-5 41003 0 1.7099E-5
20-3655457-C-T p.Asp125Asn missense ADAM33 1 82014 1.2193E-5 41007 0 1.20899E-5
20-3655461-G-C p.Phe123Leu missense ADAM33 1 82104 1.21797E-5 41052 0 1.2833E-4
20-3655474-C-T p.Arg119Gln missense ADAM33 2 82200 2.43309E-5 41100 0 1.72132E-5
20-3655475-G-A p.Arg119* stop_gained ADAM33 2 82190 2.43339E-5 41095 0 5.03525E-4
20-3655481-G-A p.Gln117* stop_gained ADAM33 1 82276 1.21542E-5 41138 0 NA
20-3655501-G-A c.334-5C>T splice_region ADAM33 1 82398 1.21362E-5 41199 0 NA
20-3655504-G-A c.334-8C>T splice_region ADAM33 15 82388 1.82065E-4 41194 0 0.00168844
20-3655669-C-T c.333+5G>A splice_region ADAM33 2 82990 2.40993E-5 41495 0 8.45809E-6
20-3655669-C-G c.333+5G>C splice_region ADAM33 2 82990 2.40993E-5 41495 0 NA
20-3655674-C-G p.Thr111Thr splice_region+synonymous ADAM33 2 82984 2.4101E-5 41492 0 6.3804E-5
20-3655675-G-A p.Thr111Met missense+splice_region ADAM33 7 82998 8.43394E-5 41499 0 3.62625E-5
20-3655675-G-T p.Thr111Lys missense+splice_region ADAM33 3 82998 3.61454E-5 41499 0 1.27567E-4
20-3655678-T-C p.His110Arg missense ADAM33 1 83004 1.20476E-5 41502 0 NA
20-3655681-T-C p.Asn109Ser missense ADAM33 293 82980 0.00353097 41490 4 0.0110775
20-3655692-C-A p.Val105Val synonymous ADAM33 4 82960 4.8216E-5 41480 0 5.23661E-5
20-3655704-C-T p.Gly101Gly synonymous ADAM33 1 82890 1.20642E-5 41445 0 NA
20-3655716-G-A p.Tyr97Tyr synonymous ADAM33 4 82810 4.83033E-5 41405 0 1.00843E-4
20-3655757-G-A c.255-5C>T splice_region ADAM33 49 81848 5.98671E-4 40924 0 0.00125
20-3655760-G-C c.255-8C>G splice_region ADAM33 1 81602 1.22546E-5 40801 0 3.663E-5
20-3657706-G-A c.254+8C>T splice_region ADAM33 1 80618 1.24042E-5 40309 0 8.3797E-6
20-3657707-C-T c.254+7G>A splice_region ADAM33 1 80706 1.23907E-5 40353 0 6.37146E-5
20-3657719-C-T p.Lys83Lys synonymous ADAM33 1 81098 1.23308E-5 40549 0 NA
20-3657727-GCTCAAGCAGGAGCT-G p.Glu76fs frameshift ADAM33 1 81116 1.2328E-5 40558 0 NA
20-3657730-C-T p.Glu80Lys missense ADAM33 1 81166 1.23204E-5 40583 0 NA
20-3657730-C-G p.Glu80Gln missense ADAM33 1 81168 1.23201E-5 40584 0 3.18431E-5
20-3657733-G-C p.Leu79Val missense ADAM33 2 81154 2.46445E-5 40577 0 8.36638E-6
20-3657736-G-A p.Leu78Leu synonymous ADAM33 2 81178 2.46372E-5 40589 0 NA
20-3657758-C-T p.Leu70Leu synonymous ADAM33 1 81110 1.23289E-5 40555 0 NA
20-3657766-C-A p.Val68Leu missense ADAM33 1 80854 1.2368E-5 40427 0 6.25E-4
20-3657767-C-T p.Leu67Leu synonymous ADAM33 1 80854 1.2368E-5 40427 0 NA
20-3657771-C-T p.Gly66Glu missense ADAM33 1 80706 1.23907E-5 40353 0 NA
20-3657774-A-G p.Met65Thr missense ADAM33 1 80648 1.23996E-5 40324 0 NA
20-3657785-C-T p.Ser61Ser synonymous ADAM33 80 79888 0.0010014 39944 0 0.00116011
20-3657786-G-A p.Ser61Leu missense ADAM33 6 79844 7.51465E-5 39922 0 0.00151057
20-3657792-TG-T c.178-3delC splice_region ADAM33 1 79408 1.25932E-5 39704 0 NA
20-3660134-C-A c.177+5G>T splice_region ADAM33 2 81850 2.44349E-5 40925 0 4.29181E-6
20-3660139-C-T p.Pro59Pro splice_region+synonymous ADAM33 3 81846 3.66542E-5 40923 0 4.83918E-5
20-3660140-G-C p.Pro59Arg missense+splice_region ADAM33 2 81886 2.44242E-5 40943 0 4.25203E-6
20-3660144-C-T p.Glu58Lys missense ADAM33 2 81910 2.4417E-5 40955 0 1.52882E-5
20-3660156-C-T p.Val54Ile missense ADAM33 3 81908 3.66265E-5 40954 0 5.56328E-5
20-3660157-G-A p.Thr53Thr synonymous ADAM33 3 81906 3.66274E-5 40953 0 2.75976E-5
20-3660162-G-A p.Arg52Cys missense ADAM33 2 81922 2.44135E-5 40961 0 5.04032E-4
20-3660166-G-C p.Pro50Pro synonymous ADAM33 1 81956 1.22017E-5 40978 0 NA
20-3660176-T-C p.Asp47Gly missense ADAM33 1 81966 1.22002E-5 40983 0 NA
20-3660180-G-A p.Leu46Leu synonymous ADAM33 1 81978 1.21984E-5 40989 0 NA
20-3660184-C-A p.Trp44Cys missense ADAM33 1 81958 1.22014E-5 40979 0 1.2656E-5
20-3660187-G-T p.His43Gln missense ADAM33 1 81930 1.22055E-5 40965 0 3.18898E-5
20-3660190-C-T p.Pro42Pro synonymous ADAM33 7 81906 8.54638E-5 40953 0 6.38488E-5
20-3660191-G-A p.Pro42Leu missense ADAM33 9 81914 1.09871E-4 40957 0 2.55021E-4
20-3660194-G-A p.Thr41Ile missense ADAM33 1 81906 1.22091E-5 40953 0 NA
20-3660209-G-A p.Pro36Leu missense ADAM33 4 81764 4.89213E-5 40882 0 5.47106E-5
20-3660213-T-C p.Ile35Val missense ADAM33 2 81708 2.44774E-5 40854 0 NA
20-3660218-C-T p.Gly33Glu missense+splice_region ADAM33 1 81682 1.22426E-5 40841 0 3.19122E-5
20-3660221-G-A c.98-3C>T splice_region ADAM33 3 81648 3.67431E-5 40824 0 6.25E-4
20-3662554-C-G c.97+1G>C splice_donor ADAM33 2 67466 2.96446E-5 33733 0 NA
20-3662555-C-G p.Gly33Arg missense+splice_region ADAM33 1 67556 1.48025E-5 33778 0 4.82114E-6
20-3662562-C-T p.Val30Val synonymous ADAM33 1 67436 1.48289E-5 33718 0 NA
20-3662570-C-G p.Ala28Pro missense ADAM33 2 67372 2.96859E-5 33686 0 NA
20-3662578-ACTGGC-A p.Trp23fs frameshift ADAM33 38 67482 5.63113E-4 33741 0 5.20678E-4
20-3662585-A-G p.Trp23Arg missense ADAM33 1 67662 1.47793E-5 33831 0 3.18695E-5
20-3662589-C-A p.Leu21Leu synonymous ADAM33 1 67410 1.48346E-5 33705 0 NA
20-3662590-A-C p.Leu21Arg missense ADAM33 1 67356 1.48465E-5 33678 0 NA
20-3662592-C-T p.Leu20Leu synonymous ADAM33 2 67192 2.97654E-5 33596 0 3.18756E-5
20-3662601-TAGC-T p.Leu17del disruptive_inframe_deletion ADAM33 2 66332 3.01514E-5 33166 0 2.41671E-5
20-3662617-G-A p.Pro12Leu missense ADAM33 2 63456 3.15179E-5 31728 0 NA
20-3662620-G-T p.Thr11Asn missense ADAM33 1 62854 1.59099E-5 31427 0 NA
20-3662622-C-T p.Gly10Gly synonymous ADAM33 1 62672 1.59561E-5 31336 0 0.00103842
20-3662626-C-G p.Arg9Pro missense ADAM33 1 61720 1.62022E-5 30860 0 2.15551E-5
20-3662636-G-A p.Arg6Trp missense ADAM33 1 59708 1.67482E-5 29854 0 NA
20-3662640-C-T p.Arg4Arg synonymous ADAM33 1 58706 1.7034E-5 29353 0 3.18776E-5
20-3662651-T-C p.Met1? start_lost ADAM33 1 56292 1.77645E-5 28146 0 NA
20-3662725-G-A c.-74C>T 5_prime_UTR_premature_start_codon_gain ADAM33 1 40696 2.45724E-5 20348 0 NA
20-3662743-G-A c.-92C>T 5_prime_UTR_premature_start_codon_gain ADAM33 1 37274 2.68284E-5 18637 0 NA
20-3662858-T-A c.-207A>T 5_prime_UTR_premature_start_codon_gain ADAM33 60 21186 0.00283206 10593 0 0.00821883