Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-101979650-T-C c.*566A>G splice_region ALG2 2 36738 5.44395E-5 18369 0 NA
9-101980221-C-G p.Val323Leu missense ALG2 1 83226 1.20155E-5 41613 0 3.18431E-5
9-101980227-G-GAGTATTTTAATTA p.Leu321fs frameshift ALG2 1 83256 1.20111E-5 41628 0 NA
9-101980236-CAT-C p.Tyr317fs frameshift ALG2 1 83266 1.20097E-5 41633 0 NA
9-101980237-A-G p.Tyr317Tyr synonymous ALG2 1 83270 1.20091E-5 41635 0 3.1841E-5
9-101980241-C-T p.Arg316Gln missense ALG2 8 83272 9.60707E-5 41636 0 1.15342E-4
9-101980242-G-A p.Arg316* stop_gained ALG2 1 83270 1.20091E-5 41635 0 3.97697E-6
9-101980248-G-A p.Leu314Phe missense ALG2 1 83286 1.20068E-5 41643 0 1.5907E-5
9-101980249-C-G p.Gln313His missense ALG2 4 83286 4.80273E-5 41643 0 3.18471E-5
9-101980264-T-TATAATCATTCCAAA p.Glu308fs frameshift ALG2 1 83316 1.20025E-5 41658 0 NA
9-101980267-A-G p.Pro307Pro synonymous ALG2 1 83306 1.20039E-5 41653 0 6.36902E-5
9-101980270-G-C p.Ser306Ser synonymous ALG2 1 83302 1.20045E-5 41651 0 8.23791E-6
9-101980280-T-C p.Glu303Gly missense ALG2 1 83314 1.20028E-5 41657 0 NA
9-101980289-C-T p.Arg300Lys missense ALG2 1 83332 1.20002E-5 41666 0 NA
9-101980293-C-T p.Ala299Thr missense ALG2 6 83338 7.1996E-5 41669 0 5.16944E-5
9-101980306-G-A p.Gly294Gly synonymous ALG2 1 83354 1.1997E-5 41677 0 3.97662E-6
9-101980311-T-C p.Met293Val missense ALG2 1 83364 1.19956E-5 41682 0 1.47136E-4
9-101980326-AA-TT p.ProSer287ProThr missense ALG2 2 83366 2.39906E-5 41683 0 NA
9-101980327-A-G p.Pro287Pro synonymous ALG2 1 83366 1.19953E-5 41683 0 NA
9-101980328-G-T p.Pro287His missense ALG2 1 83366 1.19953E-5 41683 0 3.97757E-6
9-101980335-G-A p.Arg285Cys missense ALG2 36 83366 4.31831E-4 41683 0 5.09587E-4
9-101980351-T-C p.Ala279Ala synonymous ALG2 4 83364 4.79823E-5 41682 0 3.18512E-5
9-101980352-G-A p.Ala279Val missense ALG2 1 83360 1.19962E-5 41680 0 8.2409E-6
9-101980357-T-C p.Ser277Ser synonymous ALG2 1 83358 1.19964E-5 41679 0 3.97823E-6
9-101980357-T-A p.Ser277Ser synonymous ALG2 1 83358 1.19964E-5 41679 0 NA
9-101980360-G-A p.Phe276Phe synonymous ALG2 1 83358 1.19964E-5 41679 0 NA
9-101980367-A-G p.Val274Ala missense ALG2 5285 83258 0.0634774 41629 199 0.06875
9-101980369-C-T p.Pro273Pro synonymous ALG2 7 83350 8.39832E-5 41675 0 5.03525E-4
9-101980370-G-A p.Pro273Leu missense ALG2 1 83350 1.19976E-5 41675 0 NA
9-101980371-G-T p.Pro273Thr missense ALG2 1 83350 1.19976E-5 41675 0 NA
9-101980382-C-G p.Cys269Ser missense ALG2 1 83342 1.19988E-5 41671 0 NA
9-101980384-C-T p.Leu268Leu synonymous ALG2 1 83340 1.1999E-5 41670 0 8.26132E-6
9-101980391-C-T p.Gly266Glu missense ALG2 1 83304 1.20042E-5 41652 0 3.18512E-5
9-101980393-T-C p.Thr265Thr synonymous ALG2 1 83302 1.20045E-5 41651 0 NA
9-101980399-A-G p.Ser263Ser synonymous ALG2 3 83280 3.60231E-5 41640 0 8.26556E-6
9-101980401-T-C p.Ser263Gly missense ALG2 4 83266 4.80388E-5 41633 0 4.95933E-5
9-101980410-TGG-T p.Ser259fs frameshift ALG2 8 83256 9.60892E-5 41628 0 8.27185E-5
9-101980411-G-A p.Ser259Ser synonymous ALG2 1 83256 1.20111E-5 41628 0 NA
9-101980412-G-GTCA p.Ser259delinsLeuThr conservative_inframe_insertion ALG2 8 83246 9.61007E-5 41623 0 8.27321E-5
9-101980426-AC-A p.Gly254fs frameshift ALG2 4 83154 4.81035E-5 41577 0 6.61835E-5
9-101980427-C-T p.Gly254Asp missense ALG2 3 83130 3.60881E-5 41565 0 3.18573E-5
9-101980429-C-T p.Ser253Ser synonymous ALG2 9 83118 1.0828E-4 41559 0 7.59386E-5
9-101980430-G-A p.Ser253Leu missense ALG2 5 83104 6.01656E-5 41552 0 7.98709E-6
9-101980450-G-A p.Cys246Cys synonymous ALG2 1 82670 1.20963E-5 41335 0 NA
9-101980458-T-C p.Met244Val missense ALG2 2 82456 2.42554E-5 41228 0 3.98362E-6
9-101980486-A-G p.Phe234Phe synonymous ALG2 1 81828 1.22208E-5 40914 0 9.55353E-5
9-101980509-A-AGG p.Tyr227fs frameshift ALG2 2 82564 2.42236E-5 41282 0 6.36862E-5
9-101980510-A-AGGG p.Leu226_Tyr227insPro disruptive_inframe_insertion ALG2 2 82596 2.42142E-5 41298 0 6.36943E-5
9-101980513-CACACA-C p.Cys224fs frameshift ALG2 2 82650 2.41984E-5 41325 0 6.37105E-5
9-101980515-C-T p.Val225Met missense ALG2 1 82696 1.20925E-5 41348 0 NA
9-101980519-C-T p.Thr223Thr synonymous ALG2 6 82746 7.25111E-5 41373 0 1.97733E-4
9-101980520-G-A p.Thr223Met missense ALG2 9 82804 1.0869E-4 41402 0 3.29527E-5
9-101980523-C-A p.Cys222Phe missense ALG2 1 82850 1.207E-5 41425 0 NA
9-101980533-G-A p.Leu219Phe missense ALG2 4 82986 4.82009E-5 41493 0 7.95798E-5
9-101980550-TTGTC-T p.Asp212fs frameshift ALG2 1 83156 1.20256E-5 41578 0 3.97753E-6
9-101980569-A-G p.Leu207Leu synonymous ALG2 2 83256 2.40223E-5 41628 0 NA
9-101980587-C-A p.Gly201Cys missense ALG2 1 83296 1.20054E-5 41648 0 NA
9-101980593-C-G p.Asp199His missense ALG2 1 83310 1.20034E-5 41655 0 NA
9-101980594-G-A p.Ser198Ser synonymous ALG2 10 83312 1.20031E-4 41656 0 8.23682E-5
9-101980597-C-G p.Gln197His missense ALG2 8 83316 9.602E-5 41658 0 4.77156E-5
9-101980599-G-A p.Gln197* stop_gained ALG2 2 83320 2.40038E-5 41660 0 NA
9-101980603-G-GACAGAATCTCAAGGCCCTCTGATTCCAAAGTCCA p.Gln196fs frameshift ALG2 1 83324 1.20013E-5 41662 0 NA
9-101980626-A-G p.Tyr188His missense ALG2 2 83340 2.39981E-5 41670 0 8.23683E-6
9-101980639-C-G p.Glu183Asp missense ALG2 1 83342 1.19988E-5 41671 0 8.23655E-6
9-101980641-C-T p.Glu183Lys missense ALG2 1 83344 1.19985E-5 41672 0 NA
9-101980646-ACT-A p.Arg180fs frameshift ALG2 1 83332 1.20002E-5 41666 0 NA
9-101980654-G-A p.Asp178Asp synonymous ALG2 8 83330 9.60038E-5 41665 0 5.76559E-5
9-101980672-G-T p.Ile172Ile synonymous ALG2 8 83350 9.59808E-5 41675 0 7.4129E-5
9-101980672-G-C p.Ile172Met missense ALG2 4 83350 4.79904E-5 41675 0 5.03525E-4
9-101980680-G-A p.His170Tyr missense ALG2 1 83352 1.19973E-5 41676 0 4.11828E-5
9-101980693-A-G p.Asp165Asp synonymous ALG2 2 83352 2.39946E-5 41676 0 2.23001E-4
9-101980707-A-G p.Leu161Leu synonymous ALG2 350 83358 0.00419876 41679 2 0.00471398
9-101980707-A-C p.Leu161Val missense ALG2 1 83362 1.19959E-5 41681 0 1.91107E-4
9-101980715-C-T p.Arg158His missense ALG2 3 83366 3.59859E-5 41683 0 1.64731E-5
9-101980716-G-A p.Arg158Cys missense ALG2 2 83362 2.39917E-5 41681 0 8.23642E-6
9-101980721-T-C p.Gln156Arg missense ALG2 2 83366 2.39906E-5 41683 0 NA
9-101980728-G-C p.Leu154Val missense ALG2 2 83370 2.39894E-5 41685 0 6.25E-4
9-101980729-G-A p.Ala153Ala synonymous ALG2 1 83366 1.19953E-5 41683 0 NA
9-101980738-T-G p.Ala150Ala synonymous ALG2 2 83356 2.39935E-5 41678 0 6.36821E-5
9-101980738-T-A p.Ala150Ala synonymous ALG2 2 83356 2.39935E-5 41678 0 3.5787E-5
9-101980756-C-T p.Lys144Lys synonymous ALG2 1 83364 1.19956E-5 41682 0 NA
9-101980764-C-T p.Glu142Lys missense ALG2 3 83360 3.59885E-5 41680 0 1.64728E-5
9-101980765-G-A p.Tyr141Tyr synonymous ALG2 2 83360 2.39923E-5 41680 0 3.18471E-5
9-101980768-T-C p.Arg140Arg synonymous ALG2 2 83370 2.39894E-5 41685 0 3.18329E-5
9-101980774-G-A p.Ile138Ile synonymous ALG2 2 83376 2.39877E-5 41688 0 NA
9-101980777-G-A p.Ser137Ser synonymous ALG2 1 83372 1.19944E-5 41686 0 1.56492E-4
9-101980780-G-A p.Leu136Leu synonymous ALG2 2 83368 2.399E-5 41684 0 6.37024E-5
9-101980784-A-G p.Leu135Pro missense ALG2 3 83366 3.59859E-5 41683 0 1.64728E-5
9-101980792-T-C p.Lys132Lys synonymous ALG2 1 83364 1.19956E-5 41682 0 NA
9-101980799-C-T p.Gly130Glu missense ALG2 1 83364 1.19956E-5 41682 0 8.23642E-6
9-101980804-G-A p.Pro128Pro synonymous ALG2 3 83362 3.59876E-5 41681 0 3.29457E-5
9-101980807-G-T p.Val127Val synonymous ALG2 1 83368 1.1995E-5 41684 0 2.47093E-5
9-101980822-C-G p.Lys122Asn missense ALG2 1 83366 1.19953E-5 41683 0 NA
9-101980850-G-A p.Thr113Ile missense ALG2 3 83362 3.59876E-5 41681 0 7.95241E-6
9-101980854-C-A p.Val112Phe missense ALG2 1 83352 1.19973E-5 41676 0 NA
9-101980858-T-C p.Leu110Leu synonymous ALG2 1 83350 1.19976E-5 41675 0 NA
9-101980864-T-C p.Pro108Pro synonymous ALG2 1 83346 1.19982E-5 41673 0 NA
9-101980868-T-C p.Tyr107Cys missense ALG2 4 83348 4.79916E-5 41674 0 6.3674E-5
9-101980880-G-A p.Pro103Leu missense ALG2 1 83342 1.19988E-5 41671 0 NA
9-101980887-T-C p.Ile101Val missense ALG2 1 83348 1.19979E-5 41674 0 1.64728E-5
9-101980929-T-C p.Thr87Ala missense ALG2 1 83344 1.19985E-5 41672 0 7.95292E-6
9-101980962-T-C p.Met76Val missense ALG2 2 83338 2.39987E-5 41669 0 6.36983E-5
9-101980965-C-T p.Gly75Ser missense ALG2 1 83336 1.19996E-5 41668 0 3.18532E-5
9-101980972-G-A p.Tyr72Tyr synonymous ALG2 2 83326 2.40021E-5 41663 0 3.18512E-5
9-101980983-T-C p.Ile69Val missense ALG2 10 83332 1.20002E-4 41666 0 5.03525E-4
9-101980992-T-C p.Ile66Val missense ALG2 97 83322 0.00116416 41661 2 0.00806452
9-101980995-G-T p.Pro65Thr missense ALG2 13 83324 1.56017E-4 41662 0 1.43159E-4
9-101981005-T-C p.Leu61Leu synonymous ALG2 6 83330 7.20029E-5 41665 0 3.29924E-5
9-101981009-C-T p.Arg60Gln missense ALG2 1 83322 1.20016E-5 41661 0 1.65014E-5
9-101981009-C-G p.Arg60Pro missense ALG2 1 83322 1.20016E-5 41661 0 NA
9-101981018-A-G p.Phe57Ser missense ALG2 4 83306 4.80158E-5 41653 0 3.9775E-5
9-101981024-T-C p.Asp55Gly missense ALG2 9 83300 1.08043E-4 41650 0 6.37146E-5
9-101981041-C-G p.Leu49Leu synonymous ALG2 3 83278 3.60239E-5 41639 0 3.1839E-5
9-101981062-A-C p.Phe42Leu missense ALG2 1 83204 1.20187E-5 41602 0 NA
9-101981065-T-C p.Leu41Leu synonymous ALG2 4 83190 4.80827E-5 41595 0 2.80732E-5
9-101981066-A-T p.Leu41Gln missense ALG2 1 83186 1.20213E-5 41593 0 NA
9-101981068-G-C p.Ile40Met missense ALG2 10 83176 1.20227E-4 41588 0 1.91131E-4
9-101981069-A-C p.Ile40Ser missense ALG2 1 83172 1.20233E-5 41586 0 NA
9-101981076-TCCG-T p.Arg37del conservative_inframe_deletion ALG2 1 83060 1.20395E-5 41530 0 8.3842E-6
9-101981077-C-T p.Arg37Arg synonymous ALG2 8 83058 9.63182E-5 41529 0 5.06073E-4
9-101981078-C-T p.Arg37Gln missense ALG2 6 83044 7.22509E-5 41522 0 9.55597E-5
9-101981078-C-G p.Arg37Pro missense ALG2 2 83044 2.40836E-5 41522 0 NA
9-101981079-G-A p.Arg37Trp missense ALG2 2 82998 2.4097E-5 41499 0 6.09414E-5
9-101981085-T-C p.Arg35Gly missense ALG2 3 82926 3.61768E-5 41463 0 3.1835E-5
9-101981122-G-GGAA c.*91-5_*91-4insTTC splice_region ALG2 1 81940 1.22041E-5 40970 0 NA
9-101983255-A-C c.*90+6T>G splice_region ALG2 1 80536 1.24168E-5 40268 0 4.31418E-6
9-101983258-TACCA-T p.Leu23fs frameshift ALG2 1 80536 1.24168E-5 40268 0 4.3138E-6
9-101983261-C-T p.Leu23Leu splice_region+synonymous ALG2 5 80542 6.20794E-5 40271 0 3.18654E-5
9-101983292-A-C p.Val13Gly missense ALG2 1 80546 1.24153E-5 40273 0 NA
9-101983296-A-G p.Leu12Leu synonymous ALG2 2 80552 2.48287E-5 40276 0 3.18634E-5
9-101983301-G-A p.Ser10Phe missense ALG2 1 80558 1.24134E-5 40279 0 NA
9-101983308-G-A p.His8Tyr missense ALG2 1 80554 1.2414E-5 40277 0 5.17616E-5
9-101983312-A-G p.Leu6Leu synonymous ALG2 1 80548 1.2415E-5 40274 0 8.86651E-6
9-101983314-G-A p.Leu6Phe missense ALG2 4 80550 4.96586E-5 40275 0 1.16462E-4
9-101983321-T-C p.Leu3Leu synonymous ALG2 1 80542 1.24159E-5 40271 0 NA
9-101983355-C-G p.Cys138Ser missense ALG2 26 80502 3.22973E-4 40251 0 0.00125
9-101983357-CAT-C p.Met137fs frameshift ALG2 1 80494 1.24233E-5 40247 0 1.77387E-5
9-101983362-C-T p.Val136Ile missense ALG2 1 80472 1.24267E-5 40236 0 4.31365E-6
9-101983363-A-T p.Ser135Arg missense ALG2 31 80470 3.85237E-4 40235 0 0.004375
9-101983369-G-A p.Leu133Leu synonymous ALG2 2 80448 2.48608E-5 40224 0 3.1837E-5
9-101983376-G-C p.Thr131Ser missense ALG2 1 80398 1.24381E-5 40199 0 NA
9-101983391-G-T p.Ser126* stop_gained ALG2 1 80314 1.24511E-5 40157 0 8.89458E-6
9-101983407-G-C p.Pro121Ala missense ALG2 2 80230 2.49283E-5 40115 0 8.96105E-6
9-101983413-A-C p.Cys119Gly missense ALG2 2 80160 2.49501E-5 40080 0 4.51398E-6
9-101983426-GGA-G c.349-9_349-8delTC splice_region ALG2 1 79948 1.25081E-5 39974 0 NA
9-101983823-C-T c.348+6G>A splice_region ALG2 8 59710 1.33981E-4 29855 0 5.4185E-4
9-101983831-G-C p.Gln116Glu missense+splice_region ALG2 4 61454 6.50893E-5 30727 0 1.16725E-4
9-101983854-TC-T p.Glu108fs frameshift ALG2 1 64098 1.56011E-5 32049 0 NA
9-101983858-C-T p.Glu107Lys missense ALG2 1 64336 1.55434E-5 32168 0 3.61251E-5
9-101983868-G-A p.Phe103Phe synonymous ALG2 2 65210 3.06701E-5 32605 0 8.70928E-5
9-101983870-A-T p.Phe103Ile missense ALG2 1 65392 1.52924E-5 32696 0 NA
9-101983873-G-A p.Leu102Leu synonymous ALG2 1 65328 1.53074E-5 32664 0 8.72905E-5
9-101983874-C-T p.Val101Val synonymous ALG2 2 65274 3.06401E-5 32637 0 NA
9-101983876-C-A p.Val101Leu missense ALG2 1 65148 1.53497E-5 32574 0 NA
9-101983878-T-C p.Tyr100Cys missense ALG2 2 65112 3.07163E-5 32556 0 4.35426E-5
9-101983889-G-A p.Phe96Phe synonymous ALG2 44 64854 6.78447E-4 32427 1 9.88268E-4
9-101983900-G-C p.Arg93Gly missense ALG2 1 63554 1.57347E-5 31777 0 NA
9-101983907-G-A p.Ala90Ala synonymous ALG2 1 62944 1.58871E-5 31472 0 8.96218E-5
9-101983909-C-A p.Ala90Ser missense ALG2 2 62254 3.21264E-5 31127 0 1.49227E-5
9-101983914-A-G p.Val88Ala missense ALG2 1 61520 1.62549E-5 30760 0 1.49705E-5
9-101983914-A-ACGG p.Ala87dup conservative_inframe_insertion ALG2 3 61520 4.87646E-5 30760 0 9.73083E-5
9-101983917-GC-G p.Ala87fs frameshift ALG2 1 60964 1.64031E-5 30482 0 7.56567E-6
9-101983922-G-C p.Gly85Gly synonymous ALG2 3 59998 5.00017E-5 29999 0 4.20939E-4
9-101983922-G-A p.Gly85Gly synonymous ALG2 2 59998 3.33344E-5 29999 0 NA
9-101983929-C-T p.Gly83Asp missense ALG2 1 59642 1.67667E-5 29821 0 8.75197E-5
9-101983936-A-G p.Trp81Arg missense ALG2 1 59222 1.68856E-5 29611 0 3.18674E-5
9-101983937-G-A p.Gly80Gly synonymous ALG2 1 58978 1.69555E-5 29489 0 NA
9-101983938-C-T p.Gly80Asp missense ALG2 1 58974 1.69566E-5 29487 0 1.61134E-4
9-101983938-C-CCCAGGCCTCGCGGCAG p.Gly80fs frameshift ALG2 1 58976 1.6956E-5 29488 0 NA
9-101983940-C-G p.Leu79Leu synonymous ALG2 1 58934 1.69681E-5 29467 0 NA
9-101983945-C-G p.Gly78Arg missense ALG2 7 58162 1.20353E-4 29081 0 6.37064E-5
9-101983958-G-C p.Asp73Glu missense ALG2 1 56706 1.76348E-5 28353 0 0.00125156
9-101983960-C-G p.Asp73His missense ALG2 1 56598 1.76685E-5 28299 0 6.65705E-4
9-101983961-C-A p.Gly72Gly synonymous ALG2 4 56550 7.07339E-5 28275 0 4.78011E-4
9-101983962-C-T p.Gly72Glu missense ALG2 1 56434 1.77198E-5 28217 0 5.26482E-5
9-101983962-C-G p.Gly72Ala missense ALG2 1 56434 1.77198E-5 28217 0 NA
9-101983964-G-C p.Ala71Ala synonymous ALG2 2 56150 3.56189E-5 28075 0 3.18613E-5
9-101983964-G-A p.Ala71Ala synonymous ALG2 2 56150 3.56189E-5 28075 0 1.48177E-4
9-101983965-G-A p.Ala71Val missense ALG2 3 56040 5.35332E-5 28020 0 0.00409417
9-101983965-G-C p.Ala71Gly missense ALG2 4 56040 7.13776E-5 28020 0 4.80631E-5
9-101983971-C-G p.Arg69Pro missense ALG2 1 55602 1.7985E-5 27801 0 NA
9-101983975-C-T p.Val68Met missense ALG2 1 55466 1.80291E-5 27733 0 1.04824E-5
9-101983992-T-C p.Glu62Gly missense ALG2 1 54330 1.8406E-5 27165 0 3.26782E-5
9-101983993-C-T p.Glu62Lys missense ALG2 1 54288 1.84203E-5 27144 0 NA
9-101983996-C-A p.Ala61Ser missense ALG2 1 53926 1.85439E-5 26963 0 NA
9-101983997-G-GA p.Ala61fs frameshift ALG2 1 54130 1.8474E-5 27065 0 1.37597E-5
9-101984001-C-A p.Cys59Phe missense ALG2 1 54366 1.83938E-5 27183 0 NA
9-101984001-C-T p.Cys59Tyr missense ALG2 3 54366 5.51815E-5 27183 0 1.2647E-5
9-101984002-A-G p.Cys59Arg missense ALG2 1 54384 1.83878E-5 27192 0 4.54521E-6
9-101984010-G-A p.Pro56Leu missense ALG2 21 53738 3.90785E-4 26869 0 0.00104428
9-101984017-A-G p.Tyr54His missense ALG2 3 53638 5.59305E-5 26819 0 1.34398E-5
9-101984018-G-A p.His53His synonymous ALG2 3 53628 5.59409E-5 26814 0 2.32791E-4
9-101984018-G-C p.His53Gln missense ALG2 1 53630 1.86463E-5 26815 0 NA
9-101984020-G-A p.His53Tyr missense ALG2 1 53428 1.87168E-5 26714 0 3.18593E-5
9-101984033-C-A p.Lys48Asn missense ALG2 1 53714 1.86171E-5 26857 0 9.54016E-6
9-101984048-G-C p.Arg43Arg synonymous ALG2 791 52650 0.0150237 26325 11 0.02372
9-101984051-C-G p.Ala42Ala synonymous ALG2 1 52776 1.8948E-5 26388 0 NA
9-101984053-C-T p.Ala42Thr missense ALG2 1 53038 1.88544E-5 26519 0 9.40557E-6
9-101984062-CCAGCGCCGCGTCCAACACCAGCCGCT-C p.Glu30fs frameshift ALG2 1 52926 1.88943E-5 26463 0 3.76364E-5
9-101984070-G-T p.Ala36Glu missense ALG2 3 52894 5.67172E-5 26447 0 NA
9-101984070-G-A p.Ala36Val missense ALG2 1 52894 1.89057E-5 26447 0 9.41176E-6
9-101984080-C-T p.Val33Met missense ALG2 4 54056 7.39973E-5 27028 0 5.6243E-5
9-101984081-C-T p.Leu32Leu synonymous ALG2 1 54050 1.85014E-5 27025 0 5.77219E-5
9-101984084-C-G p.Arg31Arg synonymous ALG2 1 54158 1.84645E-5 27079 0 4.44745E-6
9-101984085-C-G p.Arg31Pro missense ALG2 2 54172 3.69194E-5 27086 0 6.37308E-5
9-101984093-G-C p.Gly28Gly synonymous ALG2 158 54232 0.00291341 27116 5 0.0088522
9-101984101-C-T p.Val26Met missense ALG2 4 55102 7.25926E-5 27551 0 4.45676E-6
9-101984103-C-T p.Gly25Asp missense ALG2 1 55114 1.81442E-5 27557 0 NA
9-101984119-G-A p.Leu20Phe missense ALG2 1 56662 1.76485E-5 28331 0 NA
9-101984129-C-G p.Ser16Ser synonymous ALG2 2 56916 3.51395E-5 28458 0 3.18613E-5
9-101984130-G-A p.Ser16Leu missense ALG2 1 57072 1.75217E-5 28536 0 NA
9-101984133-G-A p.Pro15Leu missense ALG2 1 57136 1.75021E-5 28568 0 4.50519E-6
9-101984138-G-C p.Pro13Pro synonymous ALG2 1 57694 1.73328E-5 28847 0 1.10227E-5
9-101984144-CGAGT-C p.Asp10fs frameshift ALG2 1 58004 1.72402E-5 29002 0 4.55527E-6
9-101984146-A-G p.Ser11Pro missense ALG2 3456 57864 0.0597263 28932 127 0.0732401
9-101984147-G-C p.Asp10Glu missense ALG2 341 58194 0.00585971 29097 5 0.0134265
9-101984149-C-T p.Asp10Asn missense ALG2 1 58432 1.71139E-5 29216 0 6.37471E-5
9-101984158-G-A p.Arg7Trp missense ALG2 4 58706 6.81361E-5 29353 0 0.00187735
9-101984160-C-G p.Gly6Ala missense ALG2 348 58874 0.00591093 29437 1 0.00937829
9-101984160-C-T p.Gly6Asp missense ALG2 1 58900 1.69779E-5 29450 0 NA
9-101984162-C-G p.Gln5His missense ALG2 2 59140 3.38181E-5 29570 0 3.18634E-5
9-101984163-T-C p.Gln5Arg missense ALG2 2 59180 3.37952E-5 29590 0 NA
9-101984165-C-A p.Glu4Asp missense ALG2 1 59102 1.69199E-5 29551 0 NA
9-101984167-C-T p.Glu4Lys missense ALG2 2 59354 3.36961E-5 29677 0 6.37389E-5
9-101984172-G-A p.Ala2Val missense ALG2 1 58964 1.69595E-5 29482 0 1.55642E-5
9-101984175-A-G p.Met1? start_lost ALG2 1 59480 1.68124E-5 29740 0 6.37714E-5
9-101984176-T-C p.Met1? start_lost ALG2 1 59538 1.6796E-5 29769 0 6.51042E-5
9-101984201-C-A c.-25G>T 5_prime_UTR_premature_start_codon_gain ALG2 1 58300 1.71527E-5 29150 0 NA
9-101984209-G-C c.-33C>G 5_prime_UTR_premature_start_codon_gain ALG2 25 57998 4.31049E-4 28999 0 7.32717E-4
9-101984228-A-T c.-52T>A 5_prime_UTR_premature_start_codon_gain ALG2 6 55302 1.08495E-4 27651 0 6.37674E-5