Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-99404040-G-GGGAACTATAAGAATTTTTTTTTTTTTTT c.681_*1insAAAAAAAAAAAAAAATTCTTATAGTTCC frameshift AAED1 1 81918 1.22073E-5 40959 0 NA
9-99404045-A-G p.Val226Ala missense AAED1 2 82126 2.43528E-5 41063 0 6.25E-4
9-99404069-G-A p.Thr218Ile missense AAED1 2 82398 2.42724E-5 41199 0 9.90851E-5
9-99404071-A-G p.Phe217Phe synonymous AAED1 1 82354 1.21427E-5 41177 0 3.18431E-5
9-99404084-T-G p.Gln213Pro missense AAED1 1 82516 1.21189E-5 41258 0 4.00606E-6
9-99404115-T-C p.Ile203Val missense AAED1 143 81800 0.00174817 40900 2 0.00302115
9-99404124-G-C p.His200Asp missense AAED1 31 81690 3.79483E-4 40845 0 5.09392E-4
9-99404131-C-A p.Arg197Ser missense AAED1 36 81492 4.41761E-4 40746 0 4.77525E-4
9-99404133-T-A p.Arg197Trp missense AAED1 5 81450 6.13874E-5 40725 0 3.3077E-5
9-99404140-A-G p.Asp194Asp synonymous AAED1 1 80548 1.2415E-5 40274 0 8.5E-6
9-99404142-C-T p.Asp194Asn missense AAED1 3 80448 3.72912E-5 40224 0 5.11282E-5
9-99404144-C-T p.Arg193His missense AAED1 16 80366 1.99089E-4 40183 0 0.00100705
9-99404145-G-A p.Arg193Cys missense AAED1 1 80408 1.24366E-5 40204 0 3.18512E-5
9-99404169-C-T c.554-1G>A splice_acceptor AAED1 1 80038 1.24941E-5 40019 0 0.003125
9-99404171-A-C c.554-3T>G splice_region AAED1 1 80028 1.24956E-5 40014 0 8.89696E-6
9-99404175-G-A c.554-7C>T splice_region AAED1 1 79944 1.25088E-5 39972 0 1.70207E-5
9-99408170-C-T c.553+5G>A splice_region AAED1 1 82900 1.20627E-5 41450 0 NA
9-99408176-T-C p.Pro184Pro splice_region+synonymous AAED1 1 83004 1.20476E-5 41502 0 8.27595E-6
9-99408181-C-G p.Gly183Arg missense AAED1 2 83092 2.40697E-5 41546 0 0.00151057
9-99408190-G-A p.Leu180Phe missense AAED1 4 83160 4.81E-5 41580 0 1.56916E-4
9-99408195-C-T p.Gly178Glu missense AAED1 2 83212 2.4035E-5 41606 0 3.99754E-6
9-99408211-G-C p.Pro173Ala missense AAED1 12 83282 1.44089E-4 41641 0 0.00151057
9-99408211-G-A p.Pro173Ser missense AAED1 1 83282 1.20074E-5 41641 0 NA
9-99408212-G-T p.Asp172Glu missense AAED1 1 83294 1.20057E-5 41647 0 3.98248E-6
9-99408214-C-A p.Asp172Tyr missense AAED1 5 83298 6.00254E-5 41649 0 1.59295E-5
9-99408223-A-C p.Phe169Val missense AAED1 1 83318 1.20022E-5 41659 0 NA
9-99408232-G-C p.Leu166Val missense AAED1 2 83324 2.40027E-5 41662 0 2.47211E-5
9-99408235-G-T p.Pro165Thr missense AAED1 1 83322 1.20016E-5 41661 0 NA
9-99408249-C-T p.Arg160Gln missense AAED1 7 83356 8.39772E-5 41678 0 5.03525E-4
9-99408249-C-CTCTCTG p.Trp159_Arg160insProGlu conservative_inframe_insertion AAED1 1 83356 1.19967E-5 41678 0 NA
9-99408252-C-T p.Trp159* stop_gained AAED1 1 83358 1.19964E-5 41679 0 NA
9-99408253-A-T p.Trp159Arg missense AAED1 1 83362 1.19959E-5 41681 0 NA
9-99408254-C-CCTGAGAGT p.Trp159fs frameshift AAED1 1 83358 1.19964E-5 41679 0 NA
9-99408256-G-A p.Leu158Leu synonymous AAED1 3 83368 3.5985E-5 41684 0 0.00100705
9-99408257-G-C p.Ser157Arg missense AAED1 1 83364 1.19956E-5 41682 0 NA
9-99408266-G-A p.Ser154Ser synonymous AAED1 105 83376 0.00125936 41688 0 0.00277689
9-99408266-G-C p.Ser154Arg missense AAED1 1 83378 1.19936E-5 41689 0 3.19183E-5
9-99408283-T-G p.Asn149His missense AAED1 1 83368 1.1995E-5 41684 0 2.87136E-4
9-99408283-T-C p.Asn149Asp missense AAED1 2 83368 2.399E-5 41684 0 2.00974E-5
9-99408298-G-A p.Pro144Ser missense AAED1 9 83310 1.0803E-4 41655 0 3.64311E-5
9-99408304-G-A p.Gln142* stop_gained AAED1 1 83292 1.2006E-5 41646 0 8.28281E-6
9-99408308-T-C c.422-2A>G splice_acceptor AAED1 23 83268 2.76217E-4 41634 0 0.00506971
9-99413664-T-G c.421+8A>C splice_region AAED1 1 81712 1.22381E-5 40856 0 NA
9-99413673-T-C p.Ser140Ser splice_region+synonymous AAED1 3 82116 3.65337E-5 41058 0 6.34518E-4
9-99413674-G-A p.Ser140Leu missense+splice_region AAED1 1 82146 1.21734E-5 41073 0 8.51035E-6
9-99413678-A-C p.Ser139Ala missense AAED1 1 82294 1.21516E-5 41147 0 4.41476E-5
9-99413687-C-T p.Glu136Lys missense AAED1 1 82524 1.21177E-5 41262 0 NA
9-99413694-T-C p.Arg133Arg synonymous AAED1 1 82686 1.20939E-5 41343 0 NA
9-99413699-T-A p.Lys132* stop_gained AAED1 1 82786 1.20793E-5 41393 0 NA
9-99413710-CTT-C p.Arg128fs frameshift AAED1 1 82908 1.20616E-5 41454 0 NA
9-99413721-TTC-T p.Glu124fs frameshift AAED1 3 82996 3.61463E-5 41498 0 0.0512821
9-99413728-T-C p.Glu122Gly missense AAED1 16 83014 1.92739E-4 41507 0 0.00125786
9-99413734-T-C p.Asp120Gly missense AAED1 1 83038 1.20427E-5 41519 0 NA
9-99413736-G-A p.Val119Val synonymous AAED1 2 83042 2.40842E-5 41521 0 4.40938E-5
9-99413741-A-T p.Tyr118Asn missense AAED1 4 83044 4.81672E-5 41522 0 1.59215E-4
9-99413770-C-A p.Cys108Phe missense AAED1 1 82980 1.20511E-5 41490 0 NA
9-99413783-AAG-A c.316-8_316-7delCT splice_region AAED1 8 82936 9.64599E-5 41468 0 3.50207E-4
9-99413785-G-T c.316-8C>A splice_region AAED1 5 82926 6.02947E-5 41463 0 NA
9-99413933-A-G c.315+8T>C splice_region AAED1 1 82712 1.20901E-5 41356 0 6.3678E-5
9-99413940-C-T c.315+1G>A splice_donor AAED1 6 82678 7.25707E-5 41339 0 4.95868E-5
9-99413951-T-C p.His102Arg missense AAED1 1 82712 1.20901E-5 41356 0 1.40466E-4
9-99413952-G-A p.His102Tyr missense AAED1 1 82722 1.20887E-5 41361 0 NA
9-99413954-T-G p.Tyr101Ser missense AAED1 27 82728 3.26371E-4 41364 0 0.00112698
9-99413960-G-A p.Ser99Leu missense AAED1 1 82726 1.20881E-5 41363 0 NA
9-99413988-T-G p.Asn90His missense AAED1 1 82524 1.21177E-5 41262 0 1.65382E-5
9-99413996-T-C c.262-2A>G splice_acceptor AAED1 3 82282 3.646E-5 41141 0 8.27541E-6
9-99413997-T-C c.262-3A>G splice_region AAED1 1 82226 1.21616E-5 41113 0 6.25E-4
9-99416989-G-T p.Gln87Lys missense+splice_region AAED1 1 81296 1.23007E-5 40648 0 5.82689E-6
9-99417000-C-T p.Arg83Lys missense AAED1 2948 81356 0.0362358 40678 286 0.073163
9-99417001-T-C p.Arg83Gly missense AAED1 1 81402 1.22847E-5 40701 0 NA
9-99417001-TG-T p.Arg83fs frameshift AAED1 7 81402 8.5993E-5 40701 0 1.28921E-4
9-99417001-T-A p.Arg83Trp missense AAED1 7 81400 8.59951E-5 40700 0 0.00356415
9-99417024-A-C p.Val75Gly missense AAED1 1 81454 1.22769E-5 40727 0 3.1841E-5
9-99417036-C-G p.Cys71Ser missense AAED1 1 81398 1.22853E-5 40699 0 NA
9-99417040-T-C p.Ile70Val missense AAED1 1 81364 1.22904E-5 40682 0 NA
9-99417049-G-A p.Leu67Leu synonymous AAED1 1 81242 1.23089E-5 40621 0 5.85302E-6
9-99417057-T-C c.193-2A>G splice_acceptor AAED1 2 81110 2.46579E-5 40555 0 4.28192E-5
9-99417366-G-C c.192+6C>G splice_region AAED1 1 41746 2.39544E-5 20873 0 3.22831E-5
9-99417386-C-T p.Val60Met missense AAED1 10 40092 2.49426E-4 20046 0 0.00394218
9-99417390-G-A p.Ala58Ala synonymous AAED1 1 39448 2.53498E-5 19724 0 NA
9-99417411-C-T p.Ala51Ala synonymous AAED1 1 36398 2.7474E-5 18199 0 NA
9-99417434-C-T p.Gly44Arg missense AAED1 5 33262 1.50322E-4 16631 0 3.08547E-4
9-99417450-C-T p.Pro38Pro synonymous AAED1 1 30870 3.23939E-5 15435 0 NA
9-99417451-G-A p.Pro38Leu missense AAED1 3 30672 9.78091E-5 15336 0 6.80596E-5
9-99417482-G-A p.Gln28* stop_gained AAED1 1 29146 3.431E-5 14573 0 NA
9-99417495-G-A p.Gly23Gly synonymous AAED1 1 28698 3.48456E-5 14349 0 NA
9-99417507-C-T p.Pro19Pro synonymous AAED1 17 28404 5.98507E-4 14202 0 7.96582E-4
9-99417508-G-A p.Pro19Leu missense AAED1 1 28376 3.5241E-5 14188 0 NA
9-99417517-G-C p.Ala16Gly missense AAED1 1 28164 3.55063E-5 14082 0 3.62476E-5
9-99417519-G-C p.Ala15Ala synonymous AAED1 1 28068 3.56278E-5 14034 0 1.08853E-4
9-99417540-C-T p.Thr8Thr synonymous AAED1 1 27364 3.65444E-5 13682 0 3.60959E-5
9-99417550-G-A p.Ala5Val missense AAED1 1 26730 3.74111E-5 13365 0 NA
9-99417553-G-A p.Pro4Leu missense AAED1 494 26296 0.0187861 13148 36 0.0526411
9-99417555-C-T p.Ala3Ala synonymous AAED1 30 26056 0.00115137 13028 0 0.00298948
9-99417562-A-G p.Met1? start_lost AAED1 2 25536 7.83208E-5 12768 0 7.15103E-5
9-99417563-T-G p.Met8Leu missense AAED1 3 25492 1.17684E-4 12746 0 NA
9-99417565-A-T p.Val7Asp missense AAED1 3 25306 1.18549E-4 12653 0 NA
9-99417570-G-C p.Pro5Pro synonymous AAED1 1 24810 4.03063E-5 12405 0 NA
9-99417573-C-T p.Pro4Pro synonymous AAED1 1 24242 4.12507E-5 12121 0 NA
9-99417577-C-G p.Arg3Pro missense AAED1 4 23602 1.69477E-4 11801 0 NA
9-99417580-G-A p.Pro2Leu missense AAED1 1 23456 4.2633E-5 11728 0 NA