ATAVDB

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

Data Browser hg19

42,010

Gene: ANAPC13

Variant