Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-134197445-G-T p.Pro71His missense ANAPC13 1 80972 1.23499E-5 40486 0 0.00100705
3-134197449-G-A p.Pro70Ser missense ANAPC13 1 80964 1.23512E-5 40482 0 NA
3-134197454-T-A p.Asn68Ile missense ANAPC13 3 80976 3.7048E-5 40488 0 7.96533E-6
3-134197472-A-G p.Leu62Ser missense ANAPC13 2 80980 2.46975E-5 40490 0 NA
3-134197498-T-C p.Gln53Gln synonymous ANAPC13 106 80984 0.0013089 40492 0 0.00232395
3-134197501-T-G p.Glu52Asp missense ANAPC13 2 80994 2.46932E-5 40497 0 2.47101E-5
3-134197505-T-C p.Lys51Arg missense ANAPC13 1 80988 1.23475E-5 40494 0 7.95418E-6
3-134197524-C-T p.Gly45Ser missense ANAPC13 1 80988 1.23475E-5 40494 0 NA
3-134197537-T-C p.Glu40Glu synonymous ANAPC13 1 80976 1.23493E-5 40488 0 NA
3-134197555-A-T p.Asn34Lys missense+splice_region ANAPC13 3 80944 3.70627E-5 40472 0 1.19663E-5
3-134197558-C-T c.100-1G>A splice_acceptor ANAPC13 1 80940 1.23548E-5 40470 0 3.18451E-5
3-134201642-A-C c.99+6T>G splice_region ANAPC13 1 80868 1.23658E-5 40434 0 NA
3-134201647-C-A c.99+1G>T splice_donor ANAPC13 1 80882 1.23637E-5 40441 0 NA
3-134201659-C-T p.Ala30Thr missense ANAPC13 5 80948 6.1768E-5 40474 0 3.18471E-5
3-134201683-C-A p.Asp22Tyr missense ANAPC13 1 81010 1.23442E-5 40505 0 3.1841E-5
3-134201688-C-T p.Arg20Gln missense ANAPC13 1 81006 1.23448E-5 40503 0 8.23655E-6
3-134201689-G-T p.Arg20Arg synonymous ANAPC13 4 81004 4.93803E-5 40502 0 4.94193E-5
3-134201689-G-A p.Arg20* stop_gained ANAPC13 1 81004 1.23451E-5 40502 0 3.18492E-5
3-134201694-G-A p.Ala18Val missense ANAPC13 1 81022 1.23423E-5 40511 0 3.18492E-5
3-134201743-C-G p.Asp2His missense ANAPC13 7 80956 8.64667E-5 40478 0 2.78377E-5
3-134201772-A-G c.-26T>C splice_region ANAPC13 4 80716 4.95565E-5 40358 0 7.95615E-6
3-134201776-G-GCAATGCTCTTTGTTTCTTCCTTTT c.-27-4_-27-3insAAAAGGAAGAAACAAAGAGCATTG splice_region ANAPC13 1 80662 1.23974E-5 40331 0 NA
3-134204544-G-A c.-410C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 8802 1.13611E-4 4401 0 NA
3-134204566-T-A c.-432A>T 5_prime_UTR_premature_start_codon_gain ANAPC13 2 10914 1.83251E-4 5457 0 3.50296E-4
3-134204600-G-A c.-466C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 2 14252 1.40331E-4 7126 0 NA
3-134204609-G-C c.-475C>G 5_prime_UTR_premature_start_codon_gain ANAPC13 1 15088 6.62778E-5 7544 0 NA
3-134204658-G-A c.-524C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 2 20042 9.97904E-5 10021 0 NA
3-134204698-G-A c.-564C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 24568 4.07034E-5 12284 0 NA
3-134204786-A-AC c.-28+7dupG splice_region ANAPC13 1 25688 3.89287E-5 12844 0 NA
3-134204788-C-T c.-28+6G>A splice_region ANAPC13 2 25690 7.78513E-5 12845 0 1.27828E-4
3-134204794-C-T c.-28G>A splice_region ANAPC13 3 25692 1.16768E-4 12846 0 6.42632E-5
3-134204796-G-A c.-30C>T splice_region ANAPC13 218 25626 0.00850699 12813 4 0.0241364
3-134204811-G-A c.-45C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 25698 3.89135E-5 12849 0 1.76591E-4
3-134204857-C-G c.-91G>C 5_prime_UTR_premature_start_codon_gain ANAPC13 2 25710 7.77907E-5 12855 0 4.46799E-4
3-134204858-G-A c.-92C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 3 25716 1.16659E-4 12858 0 6.62515E-5
3-134205476-G-A c.-75C>T 5_prime_UTR_premature_start_codon_gain ANAPC13 1 22506 4.44326E-5 11253 0 NA