Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-74301899-C-A c.-81C>A 5_prime_UTR_premature_start_codon_gain AFP 3 76952 3.89853E-5 38476 0 NA
4-74301941-G-A c.-39G>A 5_prime_UTR_premature_start_codon_gain AFP 2 80960 2.47036E-5 40480 0 9.33453E-5
4-74301973-A-G c.-7A>G 5_prime_UTR_premature_start_codon_gain AFP 2 82156 2.43439E-5 41078 0 8.39095E-6
4-74301988-G-A p.Trp3* stop_gained AFP 1 82320 1.21477E-5 41160 0 NA
4-74301994-A-C p.Glu5Asp missense AFP 1 82364 1.21412E-5 41182 0 NA
4-74302005-T-A p.Leu9* stop_gained AFP 2 82348 2.42872E-5 41174 0 6.38121E-5
4-74302011-T-C p.Phe11Ser missense AFP 13 82328 1.57905E-4 41164 0 3.19163E-5
4-74302014-TAC-AAA p.LeuLeu12GlnIle missense AFP 1 82292 1.21518E-5 41146 0 NA
4-74302017-T-A p.Leu13Gln missense AFP 1 82256 1.21572E-5 41128 0 NA
4-74302017-T-C p.Leu13Pro missense AFP 1 82256 1.21572E-5 41128 0 2.08385E-4
4-74302023-T-G p.Phe15Cys missense AFP 1 82248 1.21584E-5 41124 0 NA
4-74302026-C-A p.Thr16Asn missense AFP 1 82202 1.21652E-5 41101 0 NA
4-74302050-A-T p.Asn24Ile missense AFP 1 81398 1.22853E-5 40699 0 NA
4-74302055-T-C p.Tyr26His missense AFP 1 81182 1.2318E-5 40591 0 4.11716E-6
4-74302057-T-C p.Tyr26Tyr synonymous AFP 1 81072 1.23347E-5 40536 0 6.3861E-5
4-74302064-G-C p.Ala29Pro missense+splice_region AFP 1 80498 1.24227E-5 40249 0 1.28692E-5
4-74302064-G-A p.Ala29Thr missense+splice_region AFP 4 80496 4.96919E-5 40248 0 4.18256E-5
4-74302065-G-A c.85+1G>A splice_donor AFP 6 80436 7.45935E-5 40218 0 3.19673E-5
4-74302067-G-T c.85+3G>T splice_region AFP 2 80274 2.49147E-5 40137 0 4.31921E-6
4-74302071-T-A c.85+7T>A splice_region AFP 33732 71268 0.473312 35634 7437 0.539155
4-74302071-T-C c.85+7T>C splice_region AFP 1 79652 1.25546E-5 39826 0 NA
4-74302870-T-C c.86-7T>C splice_region AFP 34854 82120 0.424428 41060 7556 0.515
4-74302886-TG-T p.Asp33fs frameshift AFP 1 82904 1.20621E-5 41452 0 NA
4-74302889-A-C p.Asp33Ala missense AFP 2 82898 2.4126E-5 41449 0 NA
4-74302902-T-C p.Cys37Cys synonymous AFP 1 82918 1.20601E-5 41459 0 7.97175E-6
4-74303897-C-T p.Thr48Thr synonymous AFP 1 83058 1.20398E-5 41529 0 NA
4-74303902-T-A p.Phe50Tyr missense AFP 54 83072 6.50039E-4 41536 0 0.0010193
4-74303915-T-A p.Phe54Leu missense AFP 1 83092 1.20349E-5 41546 0 NA
4-74303927-C-A p.Ala58Ala synonymous AFP 1 83092 1.20349E-5 41546 0 8.25423E-6
4-74303931-T-G p.Tyr60Asp missense AFP 2 83090 2.40703E-5 41545 0 3.98118E-6
4-74303933-C-G p.Tyr60* stop_gained AFP 1 83102 1.20334E-5 41551 0 NA
4-74303937-G-C p.Glu62Gln missense AFP 2 83090 2.40703E-5 41545 0 NA
4-74303943-A-G p.Ser64Gly missense AFP 1 83072 1.20378E-5 41536 0 NA
4-74303952-G-T p.Val67Leu missense AFP 5 83054 6.02018E-5 41527 0 6.3743E-5
4-74303955-A-G p.Lys68Glu missense AFP 1 83050 1.20409E-5 41525 0 8.2739E-6
4-74303990-AGAT-A p.Asp80del disruptive_inframe_deletion AFP 1 82862 1.20683E-5 41431 0 NA
4-74304022-A-G p.Gln90Arg missense+splice_region AFP 1 82476 1.21247E-5 41238 0 1.06072E-5
4-74304023-G-A p.Gln90Gln splice_region+synonymous AFP 35 82434 4.24582E-4 41217 0 3.18613E-4
4-74304027-A-C c.270+4A>C splice_region AFP 3 82332 3.64378E-5 41166 0 5.5841E-5
4-74306331-C-T p.Leu95Leu synonymous AFP 1 83220 1.20163E-5 41610 0 NA
4-74306333-G-A p.Leu95Leu synonymous AFP 2 83228 2.40304E-5 41614 0 NA
4-74306334-G-A p.Glu96Lys missense AFP 3 83232 3.60438E-5 41616 0 1.19364E-5
4-74306345-C-T p.Cys99Cys synonymous AFP 1 83272 1.20088E-5 41636 0 3.18492E-5
4-74306349-GAGAA-G p.Glu103fs frameshift AFP 1 83298 1.20051E-5 41649 0 8.26009E-6
4-74306355-G-T p.Glu103* stop_gained AFP 1 83304 1.20042E-5 41652 0 NA
4-74306361-T-C p.Leu105Leu synonymous AFP 1 83320 1.20019E-5 41660 0 3.18471E-5
4-74306373-G-C p.Gly109Arg missense AFP 66 83336 7.91975E-4 41668 0 0.00156111
4-74306373-G-A p.Gly109Arg missense AFP 4 83336 4.79985E-5 41668 0 1.64832E-5
4-74306374-G-T p.Gly109Val missense AFP 1 83334 1.19999E-5 41667 0 NA
4-74306403-G-C p.Glu119Gln missense AFP 1 83370 1.19947E-5 41685 0 8.23995E-6
4-74306407-G-C p.Gly120Ala missense AFP 1 83376 1.19939E-5 41688 0 NA
4-74306411-AC-A p.His122fs frameshift AFP 2 83380 2.39866E-5 41690 0 NA
4-74306419-G-T p.Cys124Phe missense AFP 1 83374 1.19941E-5 41687 0 NA
4-74306428-C-T p.Ala127Val missense AFP 5 83370 5.99736E-5 41685 0 3.29826E-5
4-74306432-C-CA p.Pro131fs frameshift AFP 1 83370 1.19947E-5 41685 0 NA
4-74306447-A-G p.Pro133Pro synonymous AFP 10 83352 1.19973E-4 41676 0 6.25E-4
4-74306449-C-T p.Ala134Val missense AFP 1 83348 1.19979E-5 41674 0 0.00100705
4-74306454-A-T p.Ile136Phe missense AFP 4 83340 4.79962E-5 41670 0 1.59226E-4
4-74306459-A-G p.Pro137Pro synonymous AFP 2 83334 2.39998E-5 41667 0 1.27445E-4
4-74306466-C-A p.Gln140Lys missense AFP 3 83330 3.60014E-5 41665 0 1.27429E-4
4-74306476-A-C p.Glu143Ala missense AFP 1 83312 1.20031E-5 41656 0 9.55292E-5
4-74306480-T-G p.Pro144Pro synonymous AFP 3 83312 3.60092E-5 41656 0 NA
4-74306486-A-G p.Thr146Thr synonymous AFP 1 83308 1.20036E-5 41654 0 NA
4-74306495-A-G p.Glu149Glu synonymous AFP 1 83296 1.20054E-5 41648 0 NA
4-74306516-G-A p.Glu156Glu synonymous AFP 1 83234 1.20143E-5 41617 0 NA
4-74306527-A-T p.Asn160Ile missense AFP 1 83154 1.20259E-5 41577 0 8.00839E-6
4-74308006-T-C c.483-7T>C splice_region AFP 3 82282 3.646E-5 41141 0 1.59226E-4
4-74308023-G-C p.Glu165Gln missense AFP 2 82684 2.41885E-5 41342 0 NA
4-74308036-G-A p.Arg169Lys missense AFP 1 82860 1.20685E-5 41430 0 1.69411E-5
4-74308037-G-T p.Arg169Ser missense AFP 1 82874 1.20665E-5 41437 0 3.98527E-6
4-74308055-A-C p.Ala175Ala synonymous AFP 4 83026 4.81777E-5 41513 0 3.08056E-4
4-74308056-C-A p.Pro176Thr missense AFP 3 83050 3.61228E-5 41525 0 1.66414E-5
4-74308073-G-A p.Trp181* stop_gained AFP 7 83080 8.42561E-5 41540 1 6.36983E-5
4-74308075-C-T p.Ala182Val missense AFP 1 83086 1.20357E-5 41543 0 3.97953E-6
4-74308080-C-T p.Arg184Cys missense AFP 1 83104 1.20331E-5 41552 0 9.55171E-5
4-74308082-C-T p.Arg184Arg synonymous AFP 1 83114 1.20317E-5 41557 0 NA
4-74308088-C-G p.Asp186Glu missense AFP 2 83140 2.40558E-5 41570 0 3.1841E-5
4-74308089-A-C p.Lys187Gln missense AFP 1399 83112 0.0168327 41556 23 0.0407855
4-74308100-A-G p.Pro190Pro synonymous AFP 1 83140 1.20279E-5 41570 0 8.25818E-6
4-74308116-G-A p.Glu196Lys missense AFP 2 83174 2.4046E-5 41587 0 6.3674E-5
4-74308124-A-C p.Ala198Ala synonymous AFP 237 83182 0.00284917 41591 3 0.00420248
4-74308145-G-A p.Lys205Lys splice_region+synonymous AFP 1 83122 1.20305E-5 41561 0 NA
4-74308146-G-T c.615+1G>T splice_donor AFP 1 83120 1.20308E-5 41560 0 NA
4-74309060-C-T c.616-4C>T splice_region AFP 16 82978 1.92822E-4 41489 0 1.59266E-4
4-74309060-C-A c.616-4C>A splice_region AFP 1 82978 1.20514E-5 41489 0 NA
4-74309062-A-G c.616-2A>G splice_acceptor AFP 2 83000 2.40964E-5 41500 0 NA
4-74309065-C-T p.Ala206Val missense+splice_region AFP 2 82998 2.4097E-5 41499 0 NA
4-74309085-T-C p.Leu213Leu synonymous AFP 2 83024 2.40894E-5 41512 0 4.13018E-5
4-74309095-G-A p.Ser216Asn missense AFP 3 83046 3.61246E-5 41523 0 NA
4-74309125-T-TA p.Met227fs frameshift AFP 1 83006 1.20473E-5 41503 0 NA
4-74309146-G-A p.Arg233Gln missense AFP 3 82928 3.6176E-5 41464 0 1.65514E-5
4-74309160-A-C p.Ile238Leu missense+splice_region AFP 12 82904 1.44746E-4 41452 0 2.07135E-4
4-74309166-G-T c.713+5G>T splice_region AFP 1 82868 1.20674E-5 41434 0 NA
4-74309168-T-C c.713+7T>C splice_region AFP 1 82850 1.207E-5 41425 0 NA
4-74309168-T-A c.713+7T>A splice_region AFP 1 82850 1.207E-5 41425 0 NA
4-74310705-C-T c.714-5C>T splice_region AFP 5 82732 6.04361E-5 41366 0 3.32579E-5
4-74310706-C-T c.714-4C>T splice_region AFP 3 82738 3.6259E-5 41369 0 3.28192E-5
4-74310717-A-G p.Thr241Ala missense AFP 1 83022 1.2045E-5 41511 0 NA
4-74310727-G-C p.Ser244Thr missense AFP 2 83114 2.40633E-5 41557 0 NA
4-74310754-C-G p.Thr253Ser missense AFP 38 83234 4.56544E-4 41617 0 2.66529E-4
4-74310768-C-G p.Leu258Val missense AFP 1846 83262 0.022171 41631 25 0.0332326
4-74310774-C-G p.Leu260Val missense AFP 5 83280 6.00384E-5 41640 0 5.02703E-4
4-74310775-T-C p.Leu260Pro missense AFP 1 83282 1.20074E-5 41641 0 NA
4-74310784-C-T p.Ala263Val missense AFP 1 83304 1.20042E-5 41652 0 3.97722E-6
4-74310793-A-G p.His266Arg missense AFP 26 83316 3.12065E-4 41658 0 6.25E-4
4-74310793-A-T p.His266Leu missense AFP 2 83316 2.4005E-5 41658 0 3.97703E-6
4-74310808-G-A p.Arg271Lys missense AFP 1 83302 1.20045E-5 41651 0 8.2375E-6
4-74310815-T-C p.Asp273Asp synonymous AFP 1 83286 1.20068E-5 41643 0 3.97706E-6
4-74310816-G-A p.Val274Met missense AFP 1 83276 1.20083E-5 41638 0 1.98858E-5
4-74310818-G-A p.Val274Val synonymous AFP 1 83270 1.20091E-5 41635 0 3.97719E-6
4-74310844-A-G c.843+5A>G splice_region AFP 43162 82384 0.523912 41192 11431 0.54623
4-74310846-A-G c.843+7A>G splice_region AFP 1 83094 1.20346E-5 41547 0 NA
4-74313179-G-GA p.Ile284fs frameshift AFP 2 80744 2.47696E-5 40372 0 8.51963E-6
4-74313183-A-G p.Lys283Arg missense AFP 1 81044 1.2339E-5 40522 0 2.86362E-5
4-74313187-C-A p.Ile284Ile synonymous AFP 1 81248 1.2308E-5 40624 0 2.85365E-5
4-74313193-C-T p.Ser286Ser synonymous AFP 878 81500 0.010773 40750 5 0.0092746
4-74313195-A-G p.Tyr287Cys missense AFP 3 81638 3.67476E-5 40819 0 3.18573E-5
4-74313208-A-G p.Gln291Gln synonymous AFP 1 82136 1.21749E-5 41068 0 8.00628E-6
4-74313209-C-G p.Gln292Glu missense AFP 1 82174 1.21693E-5 41087 0 3.18613E-5
4-74313216-C-T p.Thr294Ile missense AFP 7 82324 8.50299E-5 41162 0 3.18593E-4
4-74313220-G-A p.Leu295Leu synonymous AFP 28 82376 3.39905E-4 41188 0 0.00303644
4-74313248-C-G p.Leu305Val missense AFP 1 82622 1.21033E-5 41311 0 NA
4-74313249-T-C p.Leu305Pro missense AFP 1 82628 1.21024E-5 41314 0 NA
4-74313253-C-G p.Thr306Thr synonymous AFP 5 82600 6.05327E-5 41300 0 2.49198E-5
4-74313255-C-T p.Thr307Met missense AFP 1 82608 1.21054E-5 41304 0 0.00101317
4-74313256-G-A p.Thr307Thr synonymous AFP 4 82632 4.84074E-5 41316 0 8.30496E-6
4-74313260-G-T p.Glu309* stop_gained AFP 1 82662 1.20975E-5 41331 0 NA
4-74313263-C-T p.Arg310Cys missense AFP 4 82694 4.83711E-5 41347 0 1.99278E-5
4-74313267-G-A p.Gly311Asp missense AFP 1 82688 1.20937E-5 41344 0 NA
4-74313277-A-C p.Ile314Ile synonymous AFP 10 82684 1.20942E-4 41342 0 3.98454E-6
4-74313290-AATG-A p.Asp320del disruptive_inframe_deletion AFP 2 82708 2.41815E-5 41354 0 3.31868E-5
4-74313300-AACC-A p.Lys322_Pro323delinsAsn disruptive_inframe_deletion AFP 13 82686 1.57221E-4 41343 0 8.29875E-5
4-74313311-C-T p.Leu326Leu synonymous AFP 1 82618 1.21039E-5 41309 0 8.30896E-6
4-74313325-A-G p.Leu330Leu synonymous AFP 1 82466 1.21262E-5 41233 0 NA
4-74313336-T-C p.Leu334Ser missense AFP 3 82298 3.64529E-5 41149 0 3.1956E-5
4-74313343-T-C p.Asp336Asp synonymous AFP 1 82144 1.21737E-5 41072 0 NA
4-74313352-T-C p.Phe339Phe synonymous AFP 5 81968 6.09994E-5 40984 0 3.19691E-5
4-74313362-T-G p.Ser343Ala missense AFP 1 81832 1.22202E-5 40916 0 NA
4-74313369-G-A p.Gly345Glu missense AFP 12 81704 1.46872E-4 40852 0 3.1955E-5
4-74313371-G-A p.Glu346Lys missense AFP 1 81658 1.22462E-5 40829 0 NA
4-74313374-A-C p.Lys347Gln missense AFP 2 81644 2.44966E-5 40822 0 NA
4-74313378-A-T p.Asn348Ile missense AFP 1 81600 1.22549E-5 40800 0 8.57809E-6
4-74313382-C-A p.Ile349Ile synonymous AFP 1 81528 1.22657E-5 40764 0 NA
4-74313401-A-G c.1058+8A>G splice_region AFP 1 81168 1.23201E-5 40584 0 NA
4-74315048-T-A c.1059-4T>A splice_region AFP 1 82846 1.20706E-5 41423 0 NA
4-74315056-G-C p.Val355Leu missense AFP 2 82922 2.41191E-5 41461 0 8.6417E-6
4-74315064-A-G p.Glu357Glu synonymous AFP 1 82992 1.20494E-5 41496 0 3.18492E-5
4-74315078-A-G p.His362Arg missense AFP 1 83042 1.20421E-5 41521 0 NA
4-74315086-C-T p.Leu365Phe missense AFP 2 83044 2.40836E-5 41522 0 NA
4-74315095-TC-CT p.Ser368Leu missense AFP 1 83078 1.20369E-5 41539 0 NA
4-74315152-A-G p.Thr387Ala missense AFP 1 83084 1.2036E-5 41542 0 NA
4-74315154-T-C p.Thr387Thr synonymous AFP 2 83088 2.40709E-5 41544 0 3.18451E-5
4-74315159-A-T p.Asn389Ile missense AFP 2 83082 2.40726E-5 41541 0 NA
4-74315160-C-T p.Asn389Asn synonymous AFP 2 83078 2.40738E-5 41539 0 5.04032E-4
4-74315160-C-A p.Asn389Lys missense AFP 2 83078 2.40738E-5 41539 0 3.18492E-5
4-74315164-C-T p.Leu391Phe missense AFP 5 83086 6.01786E-5 41543 0 9.0792E-5
4-74315172-C-T p.Cys393Cys synonymous AFP 1 83076 1.20372E-5 41538 0 1.65106E-5
4-74315172-C-A p.Cys393* stop_gained AFP 1 83076 1.20372E-5 41538 0 1.59262E-5
4-74315174-A-C p.Gln394Pro missense AFP 1 83080 1.20366E-5 41540 0 3.98124E-6
4-74315176-G-T p.Asp395Tyr missense AFP 1 83064 1.20389E-5 41532 0 NA
4-74315759-G-T p.Glu400* stop_gained AFP 1 83094 1.20346E-5 41547 0 NA
4-74315784-G-C p.Ser408Thr missense AFP 1 83232 1.20146E-5 41616 0 3.99262E-6
4-74315786-C-G p.Gln409Glu missense AFP 1 83232 1.20146E-5 41616 0 8.70171E-6
4-74315792-T-C p.Leu411Leu synonymous AFP 1 83248 1.20123E-5 41624 0 1.29747E-4
4-74315801-C-T p.Arg414* stop_gained AFP 2 83256 2.40223E-5 41628 0 NA
4-74315805-G-A p.Ser415Asn missense AFP 2 83254 2.40229E-5 41627 0 NA
4-74315806-C-T p.Ser415Ser synonymous AFP 10 83258 1.20109E-4 41629 0 1.59256E-4
4-74315809-C-A p.Cys416* stop_gained AFP 2 83260 2.40211E-5 41630 0 8.66431E-6
4-74315819-C-T p.Gln420* stop_gained AFP 1 83248 1.20123E-5 41624 0 NA
4-74315820-A-G p.Gln420Arg missense AFP 1 83238 1.20137E-5 41619 0 3.9931E-6
4-74315850-C-T p.Ala430Val missense+splice_region AFP 3 83138 3.60846E-5 41569 0 8.61277E-5
4-74315854-T-A c.1289+4T>A splice_region AFP 2 83086 2.40714E-5 41543 0 NA
4-74316331-G-A c.1290-1G>A splice_acceptor AFP 1 83068 1.20383E-5 41534 0 NA
4-74316338-C-T p.Leu432Leu synonymous AFP 4 83116 4.81255E-5 41558 0 1.23366E-4
4-74316339-G-A p.Val433Ile missense AFP 14 83118 1.68435E-4 41559 0 6.25E-4
4-74316347-C-T p.Tyr435Tyr synonymous AFP 1 83122 1.20305E-5 41561 0 NA
4-74316353-G-T p.Lys437Asn missense AFP 1 83158 1.20253E-5 41579 0 NA
4-74316357-G-GC p.Gln441fs frameshift AFP 3 83156 3.60768E-5 41578 0 8.24552E-6
4-74316358-C-G p.Ala439Gly missense AFP 1 83160 1.2025E-5 41580 0 NA
4-74316366-C-T p.Leu442Leu synonymous AFP 2 83174 2.4046E-5 41587 0 NA
4-74316373-C-T p.Ser444Leu missense AFP 2 83172 2.40466E-5 41586 0 3.97902E-6
4-74316374-G-A p.Ser444Ser synonymous AFP 2 83176 2.40454E-5 41588 0 NA
4-74316376-C-T p.Ser445Leu missense AFP 8 83176 9.61816E-5 41588 0 1.15416E-4
4-74316377-G-A p.Ser445Ser synonymous AFP 1114 83152 0.0133972 41576 35 0.0265991
4-74316381-C-T p.Leu447Leu synonymous AFP 19 83160 2.28475E-4 41580 0 6.36644E-5
4-74316387-G-A p.Ala449Thr missense AFP 1 83134 1.20288E-5 41567 0 NA
4-74316394-C-T p.Thr451Ile missense AFP 41 83116 4.93286E-4 41558 0 0.00105075
4-74316395-C-T p.Thr451Thr synonymous AFP 143 83122 0.00172036 41561 1 0.00262138
4-74316400-A-G p.Lys453Arg missense AFP 1 83136 1.20285E-5 41568 0 8.2447E-6
4-74316410-C-T p.Ala456Ala synonymous AFP 1 83064 1.20389E-5 41532 0 NA
4-74316428-C-T p.Cys462Cys synonymous AFP 1 83034 1.20433E-5 41517 0 6.3678E-5
4-74316431-A-G p.Gln463Gln synonymous AFP 31 83020 3.73404E-4 41510 0 5.03525E-4
4-74316434-C-T p.Leu464Leu synonymous AFP 1 83012 1.20465E-5 41506 0 1.59175E-4
4-74316444-A-G p.Lys468Glu missense AFP 6 82944 7.2338E-5 41472 0 9.95128E-5
4-74316449-AT-A p.Leu470fs frameshift AFP 5 82926 6.02947E-5 41463 0 8.24307E-6
4-74316454-C-T p.Ala471Val missense AFP 2 82874 2.4133E-5 41437 0 6.76908E-5
4-74316455-C-T p.Ala471Ala synonymous AFP 1 82884 1.20651E-5 41442 0 NA
4-74316461-C-T p.Gly473Gly synonymous AFP 196 82714 0.00236961 41357 2 0.00503121
4-74316469-C-T p.Ala476Val missense+splice_region AFP 2 82562 2.42242E-5 41281 0 1.99238E-5
4-74316470-G-A p.Ala476Ala splice_region+synonymous AFP 1 82516 1.21189E-5 41258 0 8.24946E-6
4-74316470-G-C p.Ala476Ala splice_region+synonymous AFP 1 82516 1.21189E-5 41258 0 1.99248E-5
4-74316477-G-A c.1428+7G>A splice_region AFP 2 82310 2.42984E-5 41155 0 3.986E-6
4-74318118-G-A p.Ala477Thr missense+splice_region AFP 1 82888 1.20645E-5 41444 0 8.25123E-6
4-74318122-A-G p.Asp478Gly missense AFP 9 82922 1.08536E-4 41461 0 9.55597E-5
4-74318127-A-G p.Ile480Val missense AFP 1 83004 1.20476E-5 41502 0 6.25E-4
4-74318132-C-T p.Ile481Ile synonymous AFP 1 83024 1.20447E-5 41512 0 1.27453E-4
4-74318133-G-A p.Gly482Arg missense AFP 1 83016 1.20459E-5 41508 0 4.12194E-5
4-74318135-A-G p.Gly482Gly synonymous AFP 46 83050 5.53883E-4 41525 0 7.64526E-4
4-74318136-C-A p.His483Asn missense AFP 1 83068 1.20383E-5 41534 0 NA
4-74318149-G-T p.Arg487Ile missense AFP 1 83164 1.20244E-5 41582 0 NA
4-74318150-A-G p.Arg487Arg synonymous AFP 1 83160 1.2025E-5 41580 0 NA
4-74318157-A-G p.Met490Val missense AFP 1 83170 1.20236E-5 41585 0 NA
4-74318172-C-T p.Pro495Ser missense AFP 1 83192 1.20204E-5 41596 0 3.18492E-5
4-74318175-G-A p.Gly496Ser missense AFP 3 83180 3.60664E-5 41590 0 8.24049E-6
4-74318176-G-A p.Gly496Asp missense AFP 7 83172 8.41629E-5 41586 0 0.001875
4-74318177-T-C p.Gly496Gly synonymous AFP 4515 83076 0.0543478 41538 163 0.08625
4-74318193-ACTT-A p.Ser504del disruptive_inframe_deletion AFP 1 83150 1.20265E-5 41575 0 NA
4-74318198-T-C p.Ser503Ser synonymous AFP 5 83156 6.0128E-5 41578 0 NA
4-74318201-A-G p.Ser504Ser synonymous AFP 4 83162 4.80989E-5 41581 0 4.12031E-5
4-74318205-G-A p.Ala506Thr missense AFP 1 83154 1.20259E-5 41577 0 NA
4-74318222-C-T p.Cys511Cys synonymous AFP 8 83130 9.62348E-5 41565 0 1.2738E-4
4-74318243-T-C p.Asp518Asp synonymous AFP 1 83106 1.20328E-5 41553 0 NA
4-74318248-CAT-C p.Tyr521fs frameshift AFP 1 83124 1.20302E-5 41562 0 NA
4-74318249-A-C p.Thr520Thr synonymous AFP 1 83112 1.2032E-5 41556 0 NA
4-74318252-T-C p.Tyr521Tyr synonymous AFP 5 83100 6.01685E-5 41550 0 NA
4-74318253-G-T p.Val522Phe missense AFP 1 83094 1.20346E-5 41547 0 NA
4-74318257-C-T p.Pro523Leu missense AFP 1 83088 1.20354E-5 41544 0 NA
4-74318260-C-T p.Pro524Leu missense AFP 3 83080 3.61098E-5 41540 0 5.17475E-5
4-74318261-T-C p.Pro524Pro synonymous AFP 2 83070 2.40761E-5 41535 0 NA
4-74318261-T-A p.Pro524Pro synonymous AFP 3 83052 3.61219E-5 41526 0 NA
4-74318262-G-C p.Ala525Pro missense AFP 3 83040 3.61272E-5 41520 0 NA
4-74318272-A-G p.Asp528Gly missense AFP 1 83004 1.20476E-5 41502 0 1.19439E-5
4-74318273-T-A p.Asp528Glu missense AFP 6 82988 7.22996E-5 41494 0 NA
4-74318279-G-A p.Lys530Lys synonymous AFP 5 82940 6.02845E-5 41470 0 NA
4-74318283-A-G p.Ile532Val missense AFP 3 82908 3.61847E-5 41454 0 1.59278E-5
4-74318285-T-C p.Ile532Ile synonymous AFP 4 82872 4.82672E-5 41436 0 NA
4-74318291-T-C p.His534His synonymous AFP 2 82808 2.41523E-5 41404 0 NA
4-74318293-A-G p.Lys535Arg missense AFP 4 82806 4.83057E-5 41403 0 6.37064E-5
4-74318294-G-A p.Lys535Lys synonymous AFP 2 82794 2.41563E-5 41397 0 8.24334E-6
4-74318296-A-T p.Asp536Val missense AFP 60 82768 7.24918E-4 41384 0 0.00127421
4-74318303-C-T p.Cys538Cys synonymous AFP 1 82656 1.20983E-5 41328 0 NA
4-74318310-C-A p.Gln541Lys missense AFP 5 82598 6.05342E-5 41299 0 9.55292E-5
4-74318314-G-C p.Gly542Ala missense AFP 1 82528 1.21171E-5 41264 0 NA
4-74318320-C-T p.Ala544Val missense AFP 5 82344 6.07209E-5 41172 0 1.27405E-4
4-74318321-G-A p.Ala544Ala synonymous AFP 11 82288 1.33677E-4 41144 0 1.23683E-4
4-74318322-C-A p.Leu545Met missense AFP 2 82296 2.43025E-5 41148 0 NA
4-74318329-C-T p.Thr547Ile missense AFP 82 82118 9.98563E-4 41059 0 0.00267584
4-74318329-CA-TG p.Thr547Met missense AFP 8 82120 9.74184E-5 41060 0 NA
4-74318330-A-G p.Thr547Thr synonymous AFP 58258 59006 0.987323 29503 28784 0.999375
4-74318337-C-G p.Gln550Glu missense AFP 10 81672 1.22441E-4 40836 0 6.49695E-4
4-74318341-A-T p.Glu551Val missense+splice_region AFP 2 81424 2.45628E-5 40712 0 NA
4-74319344-C-CA n.140dupA splice_region AFP 1 73598 1.35873E-5 36799 0 NA
4-74319349-T-C n.141+2T>C splice_donor AFP 1 74466 1.34289E-5 37233 0 6.36902E-5
4-74319488-C-G p.Leu553Leu synonymous AFP 1 83022 1.2045E-5 41511 0 NA
4-74319503-G-C p.Lys558Asn missense AFP 3 83030 3.61315E-5 41515 0 3.98422E-6
4-74319503-G-A p.Lys558Lys synonymous AFP 2 83030 2.40877E-5 41515 0 3.18735E-5
4-74319515-A-G p.Gln562Gln synonymous AFP 45 83040 5.41908E-4 41520 0 6.6896E-4
4-74319522-G-C p.Glu565Gln missense AFP 1 83022 1.2045E-5 41511 0 NA
4-74319538-C-G p.Ala570Gly missense AFP 2147 83008 0.025865 41504 97 0.0443332
4-74319539-T-C p.Ala570Ala synonymous AFP 1 83038 1.20427E-5 41519 0 NA
4-74319540-G-A p.Val571Ile missense AFP 1 83044 1.20418E-5 41522 0 NA
4-74319544-T-C p.Ile572Thr missense AFP 2 83038 2.40854E-5 41519 0 NA
4-74319567-G-C p.Glu580Gln missense AFP 1 82932 1.20581E-5 41466 0 NA
4-74319583-G-A p.Gly585Asp missense AFP 1 82852 1.20697E-5 41426 0 7.96876E-6
4-74319584-CCAGGAA-C p.Gln588_Glu589del conservative_inframe_deletion AFP 2 82850 2.414E-5 41425 0 8.27308E-6
4-74319588-G-A p.Glu587Lys missense AFP 9 82834 1.08651E-4 41417 0 0.00100806
4-74319592-A-G p.Gln588Arg missense AFP 2 82788 2.41581E-5 41394 0 NA
4-74319596-A-T p.Glu589Asp missense AFP 2 82774 2.41622E-5 41387 0 3.98457E-6
4-74319597-G-A p.Val590Ile missense AFP 12 82758 1.45001E-4 41379 0 5.04032E-4
4-74319597-G-T p.Val590Phe missense AFP 1 82758 1.20834E-5 41379 0 3.18532E-5
4-74319614-G-A p.Glu595Glu splice_region+synonymous AFP 2 82598 2.42137E-5 41299 0 NA
4-74319616-T-A c.1785+2T>A splice_donor AFP 2 82560 2.42248E-5 41280 0 NA
4-74319621-G-A c.1785+7G>A splice_region AFP 1 82458 1.21274E-5 41229 0 1.65829E-5
4-74320945-A-G c.1786-8A>G splice_region AFP 1 82720 1.2089E-5 41360 0 2.78967E-5
4-74320956-C-CA p.Leu599fs frameshift AFP 1 82796 1.20779E-5 41398 0 8.25518E-6
4-74320969-C-T p.Ser601Leu missense AFP 1 82862 1.20683E-5 41431 0 NA
4-74320969-C-A p.Ser601* stop_gained AFP 1 82862 1.20683E-5 41431 0 8.25437E-6
4-74320977-C-T p.Arg604Cys missense AFP 1 82874 1.20665E-5 41437 0 1.99225E-5
4-74320978-G-A p.Arg604His missense AFP 7 82860 8.44798E-5 41430 0 NA
4-74320983-G-T p.Ala606Ser missense AFP 3 82858 3.62065E-5 41429 0 6.37105E-5
4-74320984-C-A p.Ala606Asp missense AFP 32 82860 3.86194E-4 41430 0 2.39063E-4
4-74320989-G-A p.Gly608Arg missense AFP 1 82838 1.20718E-5 41419 0 2.39097E-5
4-74321005-C-T c.*8C>T splice_region AFP 1 82764 1.20825E-5 41382 0 NA
4-74321009-T-C c.*10+2T>C splice_donor AFP 367 82726 0.00443633 41363 0 0.005
4-74321010-A-G c.*10+3A>G splice_region AFP 1 82718 1.20893E-5 41359 0 3.9875E-6
4-74321014-A-G c.*10+7A>G splice_region AFP 265 82686 0.0032049 41343 0 0.00232105
4-74321287-C-A n.693C>A splice_region AFP 2 55464 3.60594E-5 27732 0 3.18695E-5
4-74321344-G-A c.1786-4G>A splice_region AFP 2 54926 3.64126E-5 27463 0 2.34159E-5
4-74321359-A-G p.Arg599Arg synonymous AFP 1 54918 1.8209E-5 27459 0 NA
4-74321360-C-G p.Gln600Glu missense AFP 9 54910 1.63905E-4 27455 0 1.61577E-4
4-74321365-C-T p.Asn601Asn synonymous AFP 1366 54868 0.0248961 27434 33 0.023507
4-74321366-G-A p.Glu602Lys missense AFP 4 54906 7.28518E-5 27453 0 1.53607E-5
4-74321368-G-A p.Glu602Glu synonymous AFP 13 54904 2.36777E-4 27452 0 9.22708E-5
4-74321371-T-C p.Ser603Ser synonymous AFP 1 54886 1.82196E-5 27443 0 9.55536E-5
4-74321378-C-T p.Arg606Trp missense AFP 1 54890 1.82183E-5 27445 0 8.09323E-5
4-74321379-G-A p.Arg606Gln missense AFP 11 54894 2.00386E-4 27447 0 6.47249E-4
4-74321394-CTTTAAT-C p.Ile613_Leu614del disruptive_inframe_deletion AFP 1 54826 1.82395E-5 27413 0 1.62022E-4
4-74321396-T-C p.Leu612Leu synonymous AFP 2 54826 3.6479E-5 27413 0 NA
4-74321403-T-G p.Leu614* stop_gained AFP 1 54816 1.82428E-5 27408 0 7.6877E-6
4-74321403-T-C p.Leu614Ser missense AFP 2 54816 3.64857E-5 27408 0 1.6218E-4
4-74321406-C-G p.Thr615Ser missense AFP 3 54804 5.47405E-5 27402 0 NA
4-74321413-A-C p.Leu617Phe missense AFP 1 54748 1.82655E-5 27374 0 1.62311E-4