Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-113218541-G-A c.-185G>A 5_prime_UTR_premature_start_codon_gain ALPK1 24 2940 0.00816326 1470 0 0.00449583
4-113237009-G-A c.-49+1G>A splice_donor ALPK1 3 2956 0.00101489 1478 0 9.55718E-5
4-113298830-C-T c.-100-4C>T splice_region ALPK1 1 76524 1.30678E-5 38262 0 NA
4-113298840-C-T c.-94C>T 5_prime_UTR_premature_start_codon_gain ALPK1 4 77418 5.16676E-5 38709 0 6.25E-4
4-113298878-TCTC-T c.-48-5_-48-3delCCT splice_region ALPK1 1 79966 1.25053E-5 39983 0 NA
4-113298881-C-T c.-48-5C>T splice_region ALPK1 40 80118 4.99264E-4 40059 0 0.00207059
4-113298883-T-C c.-48-3T>C splice_region ALPK1 1 80172 1.24732E-5 40086 0 NA
4-113298885-G-A c.-48-1G>A splice_acceptor ALPK1