Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-134197445-G-T p.Pro71His missense ANAPC13 1 83292 1.2006E-5 41646 0 0.00100705
3-134197449-G-A p.Pro70Ser missense ANAPC13 1 83278 1.2008E-5 41639 0 NA
3-134197454-T-A p.Asn68Ile missense ANAPC13 3 83292 3.60179E-5 41646 0 7.96533E-6
3-134197472-A-G p.Leu62Ser missense ANAPC13 2 83298 2.40102E-5 41649 0 NA
3-134197498-T-C p.Gln53Gln synonymous ANAPC13 107 83302 0.00128448 41651 0 0.00232395
3-134197501-T-G p.Glu52Asp missense ANAPC13 2 83312 2.40061E-5 41656 0 2.47101E-5
3-134197505-T-C p.Lys51Arg missense ANAPC13 1 83306 1.20039E-5 41653 0 7.95418E-6
3-134197524-C-T p.Gly45Ser missense ANAPC13 1 83306 1.20039E-5 41653 0 NA
3-134197537-T-C p.Glu40Glu synonymous ANAPC13 1 83292 1.2006E-5 41646 0 NA
3-134197555-A-T p.Asn34Lys missense+splice_region ANAPC13 3 83256 3.60334E-5 41628 0 1.19663E-5
3-134197558-C-T c.100-1G>A splice_acceptor ANAPC13 1 83252 1.20117E-5 41626 0 3.18451E-5
3-134201642-A-C c.99+6T>G splice_region ANAPC13 1 83172 1.20233E-5 41586 0 NA
3-134201647-C-A c.99+1G>T splice_donor ANAPC13 1 83188 1.2021E-5 41594 0 NA
3-134201659-C-T p.Ala30Thr missense ANAPC13 5 83252 6.00586E-5 41626 0 3.18471E-5
3-134201683-C-A p.Asp22Tyr missense ANAPC13 1 83328 1.20008E-5 41664 0 3.1841E-5
3-134201688-C-T p.Arg20Gln missense ANAPC13 1 83320 1.20019E-5 41660 0 8.23655E-6
3-134201689-G-T p.Arg20Arg synonymous ANAPC13 4 83316 4.801E-5 41658 0 4.94193E-5
3-134201689-G-A p.Arg20* stop_gained ANAPC13 1 83316 1.20025E-5 41658 0 3.18492E-5
3-134201694-G-A p.Ala18Val missense ANAPC13 1 83338 1.19993E-5 41669 0 3.18492E-5
3-134201732-A-C p.Val5Val synonymous ANAPC13 1 83298 1.20051E-5 41649 0 1.31787E-4
3-134201743-C-G p.Asp2His missense ANAPC13 7 83264 8.40699E-5 41632 0 2.78377E-5
3-134201772-A-G c.-26T>C splice_region ANAPC13 4 82976 4.82067E-5 41488 0 7.95615E-6
3-134201776-G-GCAATGCTCTTTGTTTCTTCCTTTT c.-27-4_-27-3insAAAAGGAAGAAACAAAGAGCATTG splice_region ANAPC13 1 82912 1.2061E-5 41456 0 NA
3-134204544-G-A c.-410C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 8770 1.14025E-4 4385 0 NA
3-134204566-T-A c.-432A>T 5_prime_UTR_premature_start_codon_gain ANAPC13 2 10878 1.83857E-4 5439 0 3.50296E-4
3-134204600-G-A c.-466C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 2 14214 1.40706E-4 7107 0 NA
3-134204609-G-C c.-475C>G 5_prime_UTR_premature_start_codon_gain ANAPC13 1 15086 6.62866E-5 7543 0 NA
3-134204658-G-A c.-524C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 2 20982 9.53198E-5 10491 0 NA
3-134204698-G-A c.-564C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 26620 3.75657E-5 13310 0 NA
3-134204786-A-AC c.-28+7dupG splice_region ANAPC13 1 28146 3.5529E-5 14073 0 NA
3-134204788-C-T c.-28+6G>A splice_region ANAPC13 2 28152 7.10429E-5 14076 0 1.27828E-4
3-134204794-C-T c.-28G>A splice_region ANAPC13 2 28154 7.10379E-5 14077 0 6.42632E-5
3-134204796-G-A c.-30C>T splice_region ANAPC13 230 28086 0.00818913 14043 4 0.0241364
3-134204811-G-A c.-45C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 28168 3.55013E-5 14084 0 1.76591E-4
3-134204857-C-G c.-91G>C 5_prime_UTR_premature_start_codon_gain ANAPC13 3 28170 1.06496E-4 14085 0 4.46799E-4
3-134204858-G-A c.-92C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 3 28182 1.06451E-4 14091 0 6.62515E-5
3-134205476-G-A c.-75C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 24838 4.02609E-5 12419 0 NA