Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-67934790-AAAAG-A p.Lys189fs frameshift ANKRD20A1 1 59598 1.67791E-5 29799 0 0.0290413
9-67951978-A-G p.His314Arg missense ANKRD20A1 3 79360 3.78024E-5 39680 0 0.00102155
9-67967946-A-G p.His502Arg missense ANKRD20A1 2 48496 4.12405E-5 24248 1 3.07541E-5
9-67967974-G-C p.Met511Ile missense ANKRD20A1 5 47112 1.0613E-4 23556 2 3.2045E-4
9-67967974-G-T p.Met511Ile missense ANKRD20A1 4 47118 8.48932E-5 23559 2 NA
9-67968003-T-A p.Ile521Asn missense ANKRD20A1 16 44022 3.63455E-4 22011 6 2.76014E-4
9-67968003-T-C p.Ile521Thr missense ANKRD20A1 3 44030 6.81354E-5 22015 1 9.43801E-4
9-67968068-CT-C p.Lys544fs frameshift ANKRD20A1 1 41074 2.43463E-5 20537 0 NA
9-67968076-C-T p.Asp545Asp synonymous ANKRD20A1 5 40300 1.24069E-4 20150 0 0.0112474
9-67968088-TAAAG-T p.Glu551fs frameshift ANKRD20A1 9 39608 2.27227E-4 19804 3 5.58909E-5
9-67968094-A-ATAACCTGC p.Thr552fs frameshift ANKRD20A1 1 39250 2.54777E-5 19625 0 NA
9-67968133-G-C p.Glu564Asp missense ANKRD20A1 1 35860 2.78862E-5 17930 0 NA
9-67968143-A-ACCT p.Thr568_Glu569insSer disruptive_inframe_insertion ANKRD20A1 1 34918 2.86385E-5 17459 0 NA
9-67968158-C-T p.Arg573Trp missense ANKRD20A1 1 33158 3.01586E-5 16579 0 2.24892E-4
9-67968212-G-A p.Glu591Lys missense ANKRD20A1 2 26370 7.58438E-5 13185 0 7.21046E-4