Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-10600939-A-G c.-63A>G 5_prime_UTR_premature_start_codon_gain ADPRM 2 78334 2.55317E-5 39167 0 NA
17-10600947-C-T c.-55C>T 5_prime_UTR_premature_start_codon_gain ADPRM 171 77262 0.00221325 38631 1 0.0140665
17-10600982-A-G c.-20A>G splice_region ADPRM 135 66718 0.00202344 33359 0 0.00108398
17-10600982-A-C c.-20A>C splice_region ADPRM 2 66724 2.99742E-5 33362 0 NA
17-10600983-C-T c.-19C>T 5_prime_UTR_premature_start_codon_gain ADPRM 1 66392 1.50621E-5 33196 0 NA
17-10600984-G-C c.-18G>C splice_region ADPRM 2 66242 3.01923E-5 33121 0 NA
17-10600984-G-A c.-18G>A splice_region ADPRM 1 66242 1.50962E-5 33121 0 6.3743E-5
17-10600986-T-G c.-18+2T>G splice_donor ADPRM 1 65466 1.52751E-5 32733 0 NA
17-10600991-A-G c.-18+7A>G splice_region ADPRM 13 63122 2.0595E-4 31561 0 2.23243E-4
17-10608248-A-G p.Asp2Gly missense ADPRM 2 83244 2.40258E-5 41622 0 NA
17-10608256-C-T p.Pro5Ser missense ADPRM 1 83278 1.2008E-5 41639 0 1.70245E-5
17-10608272-T-G p.Leu10Arg missense ADPRM 2 83300 2.40096E-5 41650 0 4.0937E-4
17-10608289-C-T p.Arg16Cys missense ADPRM 4 83326 4.80042E-5 41663 0 1.40749E-4
17-10608290-G-A p.Arg16His missense ADPRM 4 83334 4.79996E-5 41667 0 4.13572E-5
17-10608299-C-T p.Ser19Phe missense ADPRM 1 83330 1.20005E-5 41665 0 NA
17-10608306-C-T p.Gly21Gly synonymous ADPRM 1 83324 1.20013E-5 41662 0 0.00100705
17-10608307-G-A p.Val22Ile missense ADPRM 92 83328 0.00110407 41664 0 0.00440369
17-10608312-C-T p.Ile23Ile synonymous ADPRM 14 83338 1.67991E-4 41669 0 7.91283E-4
17-10608323-A-G p.Gln27Arg missense ADPRM 1 83322 1.20016E-5 41661 0 NA
17-10608329-C-T p.Ala29Val missense ADPRM 2 83322 2.40033E-5 41661 0 6.3678E-5
17-10608333-C-G p.Asp30Glu missense ADPRM 1 83322 1.20016E-5 41661 0 8.23805E-6
17-10608339-A-C p.Glu32Asp missense ADPRM 2 83328 2.40015E-5 41664 0 NA
17-10608340-G-A p.Asp33Asn missense ADPRM 1 83330 1.20005E-5 41665 0 NA
17-10608364-A-G p.Arg41Gly missense ADPRM 2 83324 2.40027E-5 41662 0 7.9538E-6
17-10608367-C-A p.Arg42Arg synonymous ADPRM 8 83326 9.60085E-5 41663 0 6.37064E-5
17-10608368-G-A p.Arg42Gln missense ADPRM 1 83322 1.20016E-5 41661 0 NA
17-10608383-A-T p.His47Leu missense ADPRM 1 83330 1.20005E-5 41665 0 NA
17-10608390-T-C p.Leu49Leu synonymous ADPRM 1 83334 1.19999E-5 41667 0 8.23669E-6
17-10608410-T-C p.Ile56Thr missense ADPRM 6 83330 7.20029E-5 41665 0 6.25E-4
17-10608431-G-A p.Ser63Asn missense ADPRM 3 83310 3.60101E-5 41655 0 1.59114E-5
17-10608441-C-G p.Pro66Pro synonymous ADPRM 1 83310 1.20034E-5 41655 0 8.23642E-6
17-10608465-T-G p.Asp74Glu missense ADPRM 3 83294 3.6017E-5 41647 0 3.1839E-5
17-10608471-C-T p.Ile76Ile synonymous ADPRM 2 83292 2.40119E-5 41646 0 3.97763E-6
17-10608472-G-A p.Asp77Asn missense ADPRM 3 83288 3.60196E-5 41644 0 3.18512E-5
17-10608479-A-T p.Tyr79Phe missense ADPRM 1 83286 1.20068E-5 41643 0 NA
17-10608482-A-T p.Asn80Ile missense ADPRM 1 83286 1.20068E-5 41643 0 1.19316E-5
17-10608483-T-G p.Asn80Lys missense ADPRM 1 83288 1.20065E-5 41644 0 NA
17-10608499-T-C p.Ser86Pro missense ADPRM 2 83266 2.40194E-5 41633 0 8.2371E-6
17-10608516-A-G p.Glu91Glu synonymous ADPRM 1 83254 1.20114E-5 41627 0 NA
17-10608518-T-G p.Leu92Arg missense ADPRM 1475 83240 0.0177198 41620 21 0.05
17-10608523-A-G p.Met94Val missense ADPRM 3 83266 3.60291E-5 41633 0 7.95488E-6
17-10608529-A-G p.Met96Val missense ADPRM 131 83256 0.00157346 41628 0 0.00442647
17-10608536-A-G p.Lys98Arg missense ADPRM 1 83252 1.20117E-5 41626 0 8.23737E-6
17-10608575-A-G p.His111Arg missense ADPRM 2 83188 2.40419E-5 41594 0 NA
17-10608584-A-G p.Tyr114Cys missense ADPRM 1 83172 1.20233E-5 41586 0 3.1839E-5
17-10608594-T-C p.Ser117Ser synonymous ADPRM 3 83164 3.60733E-5 41582 0 3.18451E-5
17-10608611-A-G p.His123Arg missense ADPRM 1 83146 1.2027E-5 41573 0 2.47182E-5
17-10608626-C-T p.Thr128Ile missense ADPRM 1 83182 1.20218E-5 41591 0 NA
17-10608693-T-C p.Tyr150Tyr synonymous ADPRM 1 83260 1.20106E-5 41630 0 8.23791E-6
17-10608705-A-G p.Pro154Pro synonymous ADPRM 2 83270 2.40183E-5 41635 0 NA
17-10608713-A-T p.Lys157Ile missense ADPRM 1 83274 1.20085E-5 41637 0 NA
17-10608720-G-C p.Arg159Arg synonymous ADPRM 1 83268 1.20094E-5 41634 0 2.54777E-4
17-10608753-C-T p.Val170Val synonymous ADPRM 7 83274 8.40599E-5 41637 0 3.18512E-4
17-10608760-G-A p.Val173Met missense ADPRM 2 83258 2.40217E-5 41629 0 2.47117E-5
17-10608771-T-C p.Ser176Ser synonymous ADPRM 1 83222 1.20161E-5 41611 0 8.23764E-6
17-10608774-T-TC p.Tyr180fs frameshift ADPRM 1 83202 1.20189E-5 41601 0 3.18431E-5
17-10608783-C-T p.Tyr180Tyr synonymous ADPRM 1 83190 1.20207E-5 41595 0 2.47154E-5
17-10608784-G-A p.Glu181Lys missense ADPRM 4 83174 4.8092E-5 41587 0 1.91095E-4
17-10608784-G-C p.Glu181Gln missense ADPRM 2 83174 2.4046E-5 41587 0 NA
17-10608790-T-C p.Cys183Arg missense ADPRM 2 83166 2.40483E-5 41583 0 8.23873E-6
17-10608802-T-C p.Leu187Leu synonymous ADPRM 4 83100 4.81348E-5 41550 0 6.02003E-5
17-10608812-A-C p.His190Pro missense ADPRM 1 82996 1.20488E-5 41498 0 NA
17-10608815-A-G p.Asn191Ser missense ADPRM 2 82970 2.41051E-5 41485 0 8.24511E-6
17-10608817-C-G p.Pro192Ala missense ADPRM 2 82940 2.41138E-5 41470 0 2.41119E-5
17-10608820-A-G p.Asn193Asp missense ADPRM 1 82904 1.20621E-5 41452 0 NA
17-10608831-G-C p.Leu196Leu synonymous ADPRM 2 82656 2.41967E-5 41328 0 2.81872E-5
17-10608858-T-C p.Leu205Leu synonymous ADPRM 1 81538 1.22642E-5 40769 0 8.97629E-5
17-10608930-A-C c.*69A>C splice_region ADPRM 4 77520 5.15996E-5 38760 0 NA
17-10609757-C-T p.Leu202Phe missense+splice_region ADPRM 3 82750 3.62538E-5 41375 0 9.55657E-5
17-10609770-A-C p.Gln206Pro missense ADPRM 3 82932 3.61742E-5 41466 0 4.21816E-6
17-10609775-G-A p.Val208Ile missense ADPRM 2 82930 2.41167E-5 41465 0 3.18431E-5
17-10609807-G-A p.Gln218Gln synonymous ADPRM 1 83070 1.2038E-5 41535 0 NA
17-10609815-G-C p.Trp221Ser missense ADPRM 1 83076 1.20372E-5 41538 0 NA
17-10609822-T-C p.Asn223Asn synonymous ADPRM 1 83074 1.20375E-5 41537 0 NA
17-10609830-T-G p.Leu226Arg missense ADPRM 3 83000 3.61446E-5 41500 0 NA
17-10609831-A-C p.Leu226Leu synonymous ADPRM 1 82992 1.20494E-5 41496 0 NA
17-10609837-C-T p.Phe228Phe synonymous ADPRM 2 82934 2.41156E-5 41467 0 NA
17-10609842-A-C p.Asp230Ala missense ADPRM 1 82900 1.20627E-5 41450 0 NA
17-10609850-C-G p.Gln233Glu missense ADPRM 1 82816 1.2075E-5 41408 0 NA
17-10609852-A-G p.Gln233Gln synonymous ADPRM 124 82760 0.00149831 41380 2 0.00334331
17-10609857-AGGT-A p.Val237del conservative_inframe_deletion ADPRM 2 82728 2.41756E-5 41364 0 9.18814E-6
17-10609865-A-T p.Ile238Phe missense+splice_region ADPRM 1 82612 1.21048E-5 41306 0 NA
17-10609867-TGTGA-T p.Lys235fs frameshift ADPRM 1 82584 1.21089E-5 41292 0 8.26323E-6
17-10609868-G-T c.714+1G>T splice_donor ADPRM 1 82564 1.21118E-5 41282 0 4.67565E-6
17-10609872-G-GT c.718+1_718+2insT splice_donor ADPRM 1 82482 1.21239E-5 41241 0 3.18471E-5
17-10609874-A-G c.718+3A>G splice_region ADPRM 3 82432 3.63936E-5 41216 0 NA
17-10609876-GTATT-G c.718+6_718+9delTATT splice_region ADPRM 3 82408 3.64042E-5 41204 0 1.57243E-4
17-10609876-G-C c.718+5G>C splice_region ADPRM 1 82408 1.21347E-5 41204 0 NA
17-10609877-TATTTA-T c.718+7_718+11delATTTA splice_region ADPRM 4 82398 4.85449E-5 41199 0 9.11275E-5
17-10614160-C-T p.Pro243Leu missense ADPRM 1 83338 1.19993E-5 41669 0 NA
17-10614162-A-G p.Ile244Val missense ADPRM 1 83344 1.19985E-5 41672 0 3.98721E-6
17-10614173-C-T p.Thr246Met missense ADPRM 2 83364 2.39912E-5 41682 0 8.23954E-6
17-10614174-G-A p.Ala248Thr missense ADPRM 34 83360 4.07869E-4 41680 0 5.03525E-4
17-10614182-C-T p.Thr249Ile missense ADPRM 4 83386 4.79697E-5 41693 0 0.00125
17-10614183-A-G p.Asn251Asp missense ADPRM 1 83388 1.19921E-5 41694 0 8.23832E-6
17-10614245-G-C p.Trp270Ser missense ADPRM 1 83392 1.19916E-5 41696 0 9.55597E-5
17-10614254-C-T p.Ser273Phe missense ADPRM 2 83388 2.39843E-5 41694 0 NA
17-10614255-T-G p.Phe275Val missense ADPRM 1 83390 1.19918E-5 41695 0 3.97649E-6
17-10614260-T-TG p.His278fs frameshift ADPRM 5 83384 5.99635E-5 41692 0 9.54335E-5
17-10614268-C-A p.Thr279Asn missense ADPRM 2 83396 2.3982E-5 41698 0 1.64739E-5
17-10614277-G-A p.Gly282Asp missense ADPRM 1 83392 1.19916E-5 41696 0 NA
17-10614288-G-A p.Glu286Lys missense ADPRM 3 83382 3.5979E-5 41691 0 3.18613E-5
17-10614311-C-T p.Thr292Met missense ADPRM 51 83368 6.11746E-4 41684 1 0.0016804
17-10614312-G-A p.Val294Ile missense ADPRM 4 83366 4.79812E-5 41683 0 7.15848E-5
17-10614316-A-G p.Asn295Ser missense ADPRM 1 83360 1.19962E-5 41680 0 5.76635E-5
17-10614356-C-A p.Ala308Ala synonymous ADPRM 8 83316 9.602E-5 41658 0 6.36902E-5
17-10614359-T-TG p.Thr311fs frameshift ADPRM 1 83312 1.20031E-5 41656 0 3.97716E-6
17-10614362-C-T p.Gly310Gly synonymous ADPRM 2 83308 2.40073E-5 41654 0 3.18492E-5
17-10614378-C-T p.Pro316Ser missense ADPRM 9 83290 1.08056E-4 41645 0 0.0020141
17-10614389-G-A p.Met319Ile missense ADPRM 1 83302 1.20045E-5 41651 0 NA
17-10614403-G-A p.Arg324Lys missense ADPRM 17 83280 2.04131E-4 41640 0 0.00251762
17-10614419-T-C p.Asp329Asp synonymous ADPRM 35 83226 4.20542E-4 41613 0 0.00125
17-10614422-A-G p.Arg330Arg synonymous ADPRM 1 83204 1.20187E-5 41602 0 7.97913E-6
17-10614429-A-G p.Asn333Asp missense ADPRM 1 83160 1.2025E-5 41580 0 NA
17-10614434-C-A p.Tyr334* stop_gained ADPRM 1 83144 1.20273E-5 41572 0 4.00182E-6
17-10614442-A-G p.Glu337Gly missense ADPRM 34718 78104 0.44451 39052 7376 0.492442
17-10614454-A-G p.His341Arg missense ADPRM 1 82958 1.20543E-5 41479 0 8.60807E-6
17-10614458-T-C p.Cys342Cys synonymous ADPRM 13 82906 1.56804E-4 41453 0 6.36699E-4