Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-180241831-C-T n.269-4G>A splice_region RP5-1180C10.2 2 18 0.111111 9 0 0.0652035
1-180243249-T-C n.32-2A>G splice_acceptor RP5-1180C10.2 69 81660 8.44967E-4 40830 1 0.00312082
1-180243249-T-TTTTAAGGATCGAAAGTACGCCAATGTGAATTTCC n.32-3_32-2insGGAAATTCACATTGGCGTACTTTCGATCCTTAAA splice_region RP5-1180C10.2 1 81662 1.22456E-5 40831 0 NA
1-180243250-A-G n.32-3T>C splice_region RP5-1180C10.2 1 81664 1.22453E-5 40832 0 NA
1-180243253-T-C n.32-6A>G splice_region RP5-1180C10.2 1 81850 1.22175E-5 40925 0 9.55231E-5
1-180243255-G-T n.32-8C>A splice_region RP5-1180C10.2 8 81974 9.75919E-5 40987 0 3.1837E-5