Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-69403161-C-CTTGATATAATTAA p.Leu285fs frameshift ANKRD20A4 1 58236 1.71715E-5 29118 0 NA
9-69403183-A-G p.Lys291Lys synonymous ANKRD20A4 1 58922 1.69716E-5 29461 0 0.00236593
9-69403197-C-T p.Ala296Val missense ANKRD20A4 1 58848 1.69929E-5 29424 0 0.00163666
9-69416137-C-G p.Gln362Glu missense+splice_region ANKRD20A4 2 60186 3.32303E-5 30093 1 6.58328E-6
9-69416151-G-A p.Val366Val synonymous ANKRD20A4 2 60174 3.32369E-5 30087 0 4.76851E-4
9-69416183-G-A p.Arg377Lys missense ANKRD20A4 4 66524 6.01287E-5 33262 2 1.07386E-4
9-69421850-C-T c.1317-3C>T splice_region ANKRD20A4 4 52612 7.60283E-5 26306 0 0.174506
9-69421875-G-T p.Glu447* stop_gained ANKRD20A4 1 63304 1.57968E-5 31652 0 NA
9-69421878-GA-G p.Thr450fs frameshift ANKRD20A4 1 62930 1.58907E-5 31465 0 NA
9-69421937-GAAAC-G p.Lys468fs frameshift ANKRD20A4 1 49710 2.01167E-5 24855 0 NA
9-69421965-A-G p.Lys477Glu missense ANKRD20A4 1 42334 2.36217E-5 21167 0 NA
9-69421995-G-C p.Glu487Gln missense ANKRD20A4 1 40622 2.46172E-5 20311 0 NA