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