ATAVDB

Variant

Variant ID	Consequence	Effect	Gene	AC	AN	AF	NS	NHOM	maxEAF
3-16302286-TTC-T	p.Glu53fs	frameshift	DPH3	1	80910	1.23594E-5	40455	0	3.98603E-6
3-16302298-T-C	p.Ser49Ser	synonymous	DPH3	1	80910	1.23594E-5	40455	0	3.98314E-6
3-16302300-A-AGACAATAAATTACCAAAAATTATAATGTACCG	p.Ser49fs	frameshift	DPH3	1	80900	1.23609E-5	40450	0	NA
3-16302306-C-G	p.Ala47Pro	missense	DPH3	1	80894	1.23619E-5	40447	0	NA
3-16302311-A-C	p.Val45Gly	missense	DPH3	1	80900	1.23609E-5	40450	0	NA
3-16302336-C-T	p.Asp37Asn	missense+splice_region	DPH3	5	80882	6.18184E-5	40441	0	1.91071E-4
3-16302339-AAGAC-A	n.259-7_259-4delGTCT	splice_region	DPH3	4	80870	4.94621E-5	40435	0	3.1839E-5
3-16305668-A-T	p.Tyr59*	stop_gained	DPH3	1	80674	1.23956E-5	40337	0	NA
3-16305674-C-G	p.Val57Val	synonymous	DPH3	33220	79784	0.416374	39892	7024	0.458125
3-16305675-A-G	p.Val57Ala	missense	DPH3	1	80686	1.23937E-5	40343	0	NA
3-16305680-T-A	p.Ile55Ile	synonymous	DPH3	2	80782	2.4758E-5	40391	0	3.99783E-6
3-16305681-A-G	p.Ile55Thr	missense	DPH3	4	80798	4.95062E-5	40399	0	NA
3-16305682-T-C	p.Ile55Val	missense	DPH3	3	80802	3.71278E-5	40401	0	2.53344E-5
3-16305684-A-C	p.Ile54Ser	missense	DPH3	1	80798	1.23765E-5	40399	0	NA
3-16305688-G-C	p.Leu53Val	missense	DPH3	1	80812	1.23744E-5	40406	0	NA
3-16305693-C-T	p.Cys51Tyr	missense	DPH3	1	80828	1.2372E-5	40414	0	NA
3-16305695-G-C	p.Ser50Arg	missense	DPH3	1	80858	1.23674E-5	40429	0	NA
3-16305700-GAC-G	p.Cys48fs	frameshift	DPH3	2	80822	2.47457E-5	40411	0	1.99586E-5
3-16305704-C-T	p.Thr47Thr	synonymous	DPH3	1	80824	1.23726E-5	40412	0	NA
3-16305705-G-T	p.Thr47Lys	missense	DPH3	11	80824	1.36098E-4	40412	1	0.00100705
3-16305706-T-C	p.Thr47Ala	missense	DPH3	1	80820	1.23732E-5	40410	0	3.99106E-6
3-16305713-G-A	p.Asp44Asp	synonymous	DPH3	4	80804	4.95025E-5	40402	0	3.37052E-5
3-16305730-A-C	p.Leu39Val	missense	DPH3	1	80598	1.24073E-5	40299	0	NA
3-16305836-G-A	n.257+2C>T	splice_donor	DPH3	2	75290	2.6564E-5	37645	0	NA
3-16306094-G-A	n.183+8C>T	splice_region	DPH3	1	65544	1.52569E-5	32772	0	NA
3-16306272-T-A	c.108+4A>T	splice_region	DPH3	87	80896	0.00107545	40448	0	0.00375
3-16306272-T-C	c.108+4A>G	splice_region	DPH3	1	80896	1.23616E-5	40448	0	3.98549E-6
3-16306277-T-C	p.Lys36Arg	missense+splice_region	DPH3	2	80936	2.47109E-5	40468	0	6.25E-4
3-16306285-G-A	p.Ser33Ser	synonymous	DPH3	1	80954	1.23527E-5	40477	0	NA
3-16306288-G-T	p.Phe32Leu	missense	DPH3	3	80982	3.70453E-5	40491	0	NA
3-16306302-A-G	p.Cys28Arg	missense	DPH3	2	81010	2.46883E-5	40505	0	8.28569E-6
3-16306313-T-C	p.Tyr24Cys	missense	DPH3	3	81014	3.70306E-5	40507	0	3.18431E-5
3-16306323-T-A	p.Thr21Ser	missense	DPH3	1	81030	1.23411E-5	40515	0	7.55822E-5
3-16306325-TC-T	p.Glu20fs	frameshift	DPH3	2	81026	2.46834E-5	40513	0	NA
3-16306335-C-T	p.Glu17Lys	missense	DPH3	1	81030	1.23411E-5	40515	0	8.26515E-6
3-16306363-C-T	p.Glu7Glu	synonymous	DPH3	3	80956	3.70572E-5	40478	0	2.38724E-5
3-16306366-G-A	p.Asp6Asp	synonymous	DPH3	3	80934	3.70672E-5	40467	0	6.25E-4
3-16306376-A-G	p.Val3Ala	missense	DPH3	1	80906	1.236E-5	40453	0	3.9801E-6
3-16306381-C-T	p.Met1?	start_lost	DPH3	2	80896	2.47231E-5	40448	0	NA
3-16306401-G-A	c.-18C>T	5_prime_UTR_premature_start_codon_gain	DPH3	1	80696	1.23922E-5	40348	0	6.39115E-5
3-16306418-G-A	c.-35C>T	5_prime_UTR_premature_start_codon_gain	DPH3	1	80406	1.24369E-5	40203	0	6.37024E-5
3-16306425-G-C	c.-42C>G	5_prime_UTR_premature_start_codon_gain	DPH3	1	80198	1.24691E-5	40099	0	3.18532E-5
3-16306437-G-C	c.-54C>G	5_prime_UTR_premature_start_codon_gain	DPH3	1	79708	1.25458E-5	39854	0	NA

Data Browser hg19

40,651

Gene: DPH3

Variant