Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-31539284-G-A c.-5+1G>A splice_donor AHSP 1 54790 1.82515E-5 27395 0 3.19305E-5
16-31539306-G-C c.-34G>C 5_prime_UTR_premature_start_codon_gain AHSP 2 61008 3.27826E-5 30504 0 3.19122E-5
16-31539335-G-A c.-5G>A splice_region AHSP 1 69224 1.44459E-5 34612 0 NA
16-31539456-G-C c.-4-1G>C splice_acceptor AHSP 1 82850 1.207E-5 41425 0 6.37146E-5
16-31539464-G-A p.Ala2Thr missense AHSP 1 82956 1.20546E-5 41478 0 NA
16-31539476-G-T p.Ala6Ser missense AHSP 1 83030 1.20438E-5 41515 0 NA
16-31539480-A-G p.Asn7Ser missense AHSP 2 83046 2.4083E-5 41523 0 6.25E-4
16-31539482-A-G p.Lys8Glu missense AHSP 1 83056 1.20401E-5 41528 0 1.64737E-5
16-31539493-T-C p.Ile11Ile synonymous AHSP 1 83078 1.20369E-5 41539 0 NA
16-31539497-G-C p.Ala13Pro missense AHSP 17 83082 2.04617E-4 41541 0 1.91253E-4
16-31539503-T-C n.19-6T>C splice_region AHSP 2 83094 2.40691E-5 41547 0 1.98853E-5
16-31539506-AAGG-A p.Glu17del conservative_inframe_deletion AHSP 3 83092 3.61046E-5 41546 0 5.03525E-4
16-31539509-G-T p.Glu17* stop_gained AHSP 7 83114 8.42217E-5 41557 0 3.18613E-5
16-31539518-G-T p.Val20Phe missense AHSP 1 83096 1.20343E-5 41548 0 8.23737E-6
16-31539522-T-C p.Leu21Pro missense AHSP 8 83098 9.62719E-5 41549 0 2.86624E-4
16-31539528-A-G p.Asn23Ser missense AHSP 1 83050 1.20409E-5 41525 0 8.2375E-6
16-31539530-C-T p.Gln24* stop_gained AHSP 1 83048 1.20412E-5 41524 0 NA
16-31539537-T-TCTTCAATGATCCTCTCGTCTCTGAAGAAGACATGGTGACTGTGGTG c.75+2_75+3insCTTCAATGATCCTCTCGTCTCTGAAGAAGACATGGTGACTGTGGTG splice_region AHSP 4 82978 4.82055E-5 41489 2 NA
16-31539540-G-A c.75+5G>A splice_region AHSP 1 82962 1.20537E-5 41481 0 3.97842E-6
16-31539771-C-T c.76-8C>T splice_region AHSP 1 82878 1.20659E-5 41439 0 3.9847E-6
16-31539774-C-A c.76-5C>A splice_region AHSP 21 82930 2.53226E-4 41465 0 3.50363E-4
16-31539775-C-T c.76-4C>T splice_region AHSP 7 82946 8.43923E-5 41473 0 3.3305E-5
16-31539778-G-A c.76-1G>A splice_acceptor AHSP 1 83000 1.20482E-5 41500 0 NA
16-31539790-T-G p.Asp29Glu missense AHSP 4 83094 4.81383E-5 41547 1 NA
16-31539794-C-T p.Leu31Phe missense AHSP 2 83132 2.40581E-5 41566 0 3.18593E-5
16-31539796-C-T p.Leu31Leu synonymous AHSP 1 83144 1.20273E-5 41572 0 8.25805E-6
16-31539815-G-T p.Val38Leu missense AHSP 1 83198 1.20195E-5 41599 0 3.18593E-5
16-31539817-G-A p.Val38Val synonymous AHSP 15 83212 1.80262E-4 41606 1 NA
16-31539824-G-C p.Val41Leu missense AHSP 2 83230 2.40298E-5 41615 0 7.95374E-6
16-31539825-T-C p.Val41Ala missense AHSP 1 83224 1.20158E-5 41612 0 NA
16-31539829-G-A p.Glu42Glu synonymous AHSP 2 83234 2.40286E-5 41617 0 3.97693E-6
16-31539840-ACTT-A p.Phe47del disruptive_inframe_deletion AHSP 10 83258 1.20109E-4 41629 0 7.41388E-5
16-31539841-C-T p.Asn46Asn synonymous AHSP 12 83246 1.44151E-4 41623 1 6.25E-4
16-31539842-T-C p.Phe47Leu missense AHSP 1 83246 1.20126E-5 41623 0 NA
16-31539845-T-C p.Tyr48His missense AHSP 6 83254 7.20686E-5 41627 0 8.23764E-6
16-31539846-A-G p.Tyr48Cys missense AHSP 2 83252 2.40234E-5 41626 0 NA
16-31539851-A-G p.Asn50Asp missense AHSP 1 83260 1.20106E-5 41630 0 1.64788E-5
16-31539858-A-G p.Tyr52Cys missense AHSP 4 83246 4.80504E-5 41623 0 3.18756E-5
16-31539876-GG-CT p.Gly58Ala missense AHSP 1 83244 1.20129E-5 41622 0 NA
16-31539877-G-A p.Gly58Gly synonymous AHSP 1 83240 1.20135E-5 41620 0 NA
16-31539897-A-T p.Lys65Met missense AHSP 7 83204 8.41306E-5 41602 0 0.00100705
16-31539907-G-A p.Gln68Gln synonymous AHSP 1 83144 1.20273E-5 41572 0 1.98924E-5
16-31539908-G-A p.Glu69Lys missense AHSP 2 83134 2.40575E-5 41567 0 NA
16-31539916-G-T p.Arg71Arg synonymous AHSP 2 83060 2.4079E-5 41530 0 6.25E-4
16-31539927-A-T p.Asn75Ile missense AHSP 423 82952 0.00509933 41476 2 0.0075
16-31539929-A-G p.Thr76Ala missense AHSP 3 82908 3.61847E-5 41454 0 6.3804E-5
16-31539934-G-T p.Leu77Leu synonymous AHSP 16054 82388 0.194858 41194 1987 0.227592
16-31539939-AC-A p.Pro80fs frameshift AHSP 1 82816 1.2075E-5 41408 0 NA
16-31539941-C-A p.Pro80Thr missense AHSP 2 82818 2.41493E-5 41409 0 3.18817E-5
16-31539956-T-C p.Tyr85His missense AHSP 1 82592 1.21077E-5 41296 0 NA
16-31539960-G-C p.Arg86Thr missense AHSP 1 82550 1.21139E-5 41275 0 NA
16-31539961-G-A p.Arg86Arg synonymous AHSP 2 82496 2.42436E-5 41248 0 1.66467E-5
16-31539969-T-G p.Leu89Arg missense AHSP 1 82426 1.21321E-5 41213 0 NA
16-31539979-TGAGCTCCC-T p.Leu94fs frameshift AHSP 1 82322 1.21474E-5 41161 0 NA
16-31539991-T-A p.Ser96Arg missense AHSP 1 81936 1.22046E-5 40968 0 8.66882E-6
16-31539994-C-A p.His97Gln missense AHSP 4 81866 4.88603E-5 40933 0 2.61338E-5
16-31539999-C-T p.Pro99Leu missense AHSP 1 81784 1.22273E-5 40892 0 8.82675E-6
16-31540001-C-A p.Pro100Thr missense AHSP 311 81694 0.00380689 40847 4 0.00844595
16-31540001-CCCT-C p.Ser102del disruptive_inframe_deletion AHSP 1 81718 1.22372E-5 40859 0 3.18715E-5
16-31540003-C-A p.Pro100Pro synonymous AHSP 1 81692 1.22411E-5 40846 0 NA
16-31540004-T-G p.Ser101Ala missense AHSP 1 81566 1.226E-5 40783 0 NA