Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-51464475-C-T p.Glu661Lys missense AGAP7 12 51076 2.34944E-4 25538 0 0.0110294
10-51464773-C-A p.Glu561Asp missense AGAP7 2 78874 2.53569E-5 39437 0 6.35324E-4
10-51464823-G-A p.Arg545Cys missense AGAP7 1 82108 1.21791E-5 41054 0 2.49227E-5
10-51464831-C-T p.Arg542Gln missense AGAP7 35 82218 4.25698E-4 41109 2 0.00372427
10-51464832-G-A p.Arg542Trp missense AGAP7 1 82488 1.2123E-5 41244 0 1.2403E-4
10-51464839-C-T p.Glu539Glu synonymous AGAP7 1 82642 1.21004E-5 41321 0 1.6038E-4
10-51464849-G-A p.Thr536Met missense AGAP7 11 82730 1.32963E-4 41365 0 0.00319149
10-51464870-G-C p.Thr529Arg missense AGAP7 8 82880 9.65251E-5 41440 0 7.04857E-4
10-51464885-C-G p.Ser524Thr missense AGAP7 13 82688 1.57217E-4 41344 0 0.00240385
10-51464911-G-C p.Asp515Glu missense AGAP7 8 82406 9.70803E-5 41203 0 0.00215517
10-51464981-C-T p.Arg492His missense AGAP7 1 79716 1.25445E-5 39858 0 0.00189936
10-51464993-G-T p.Thr488Asn missense AGAP7 77 75590 0.00101865 37795 0 0.0270794
10-51465138-C-T p.Glu440Lys missense AGAP7 1 52834 1.89272E-5 26417 0 0.247468
10-51465198-G-C p.Leu420Val missense AGAP7 1 78490 1.27405E-5 39245 0 0.00216045
10-51465261-GCCA-G p.Trp398del conservative_inframe_deletion AGAP7 1 79074 1.26464E-5 39537 0 3.30666E-4
10-51465364-G-C p.Pro364Pro synonymous AGAP7 1 82032 1.21904E-5 41016 0 0.00125
10-51465366-G-C p.Pro364Ala missense AGAP7 8 79074 1.01171E-4 39537 0 0.022912
10-51465366-G-T p.Pro364Thr missense AGAP7 2 82078 2.43671E-5 41039 0 1.93212E-4
10-51465371-G-T p.Thr362Asn missense AGAP7 40 82012 4.87734E-4 41006 0 0.00201975
10-51465373-G-T p.Thr361Thr synonymous AGAP7 3 82120 3.65319E-5 41060 0 2.8402E-4
10-51465380-G-C p.Ser359Cys missense AGAP7 1 82156 1.2172E-5 41078 0 0.00125
10-51465385-A-C p.Ser357Arg missense AGAP7 3 82230 3.6483E-5 41115 0 6.4041E-5
10-51465387-TG-T p.Ser357fs frameshift AGAP7 3 82266 3.64671E-5 41133 0 6.40656E-5
10-51465395-A-C p.Phe354Cys missense AGAP7 3 82322 3.64423E-5 41161 0 3.98721E-6
10-51465398-CA-C p.Cys353fs frameshift AGAP7 2 82368 2.42813E-5 41184 0 NA
10-51465417-C-T p.Gly347Arg missense AGAP7 3 82558 3.63381E-5 41279 0 4.99783E-5
10-51465418-G-A p.Thr346Thr synonymous AGAP7 2 82578 2.42195E-5 41289 0 1.08234E-4
10-51465419-G-A p.Thr346Ile missense AGAP7 2 82602 2.42125E-5 41301 0 2.4958E-5
10-51465429-C-T p.Asp343Asn missense AGAP7 213 82450 0.00258338 41225 2 0.00261372
10-51465438-G-A p.Leu340Leu synonymous AGAP7 7 82722 8.46208E-5 41361 0 6.391E-5
10-51465440-C-T p.Gly339Asp missense AGAP7 1 82730 1.20875E-5 41365 0 8.25151E-6
10-51465445-G-A p.Ser337Ser synonymous AGAP7 5 82700 6.04595E-5 41350 0 9.59325E-5
10-51465446-C-T p.Ser337Asn missense AGAP7 1 82702 1.20916E-5 41351 0 1.59094E-5
10-51465456-T-C p.Ser334Gly missense AGAP7 1 82634 1.21016E-5 41317 0 2.78414E-5
10-51465457-G-T p.Ser333Ser synonymous AGAP7 1 82632 1.21018E-5 41316 0 8.35242E-5
10-51465462-T-C p.Ile332Val missense AGAP7 6 82586 7.26515E-5 41293 0 4.94715E-5
10-51465464-G-A p.Pro331Leu missense AGAP7 1 82554 1.21133E-5 41277 0 NA
10-51465472-G-A p.Ala328Ala synonymous AGAP7 1 82484 1.21236E-5 41242 0 3.98076E-6
10-51465476-A-G p.Leu327Ser missense AGAP7 1 81406 1.22841E-5 40703 0 0.0131414
10-51465477-A-G p.Leu327Leu synonymous AGAP7 772 81120 0.00951677 40560 9 0.0173431
10-51465478-T-C p.Thr326Thr synonymous AGAP7 120 82182 0.00146017 41091 3 0.012221
10-51465486-G-C p.Leu324Val missense AGAP7 2 82152 2.43451E-5 41076 0 6.41684E-5
10-51465488-G-C p.Ser323Cys missense AGAP7 1 82108 1.21791E-5 41054 0 NA
10-51465490-T-C p.Pro322Pro synonymous AGAP7 1 82026 1.21913E-5 41013 0 NA
10-51465497-T-A p.Lys320Met missense AGAP7 1 81792 1.22261E-5 40896 0 6.44081E-5
10-51465552-A-T p.Tyr302Asn missense AGAP7 7 76 0.0921053 38 3 1.0
10-51465650-C-T p.Arg269Gln missense AGAP7 46 18174 0.00253109 9087 0 0.527705
10-51465652-C-A p.Lys268Asn missense AGAP7 1 75426 1.3258E-5 37713 0 NA
10-51465761-G-A p.Thr232Ile missense AGAP7 1 53608 1.86539E-5 26804 0 NA
10-51465779-C-A p.Arg226Leu missense AGAP7 1 50432 1.98287E-5 25216 0 1.02034E-4
10-51465783-T-C p.Met225Val missense AGAP7 4384 4944 0.886731 2472 1997 0.935875
10-51465802-G-C p.Thr218Thr synonymous AGAP7 1 48526 2.06075E-5 24263 0 5.25855E-5
10-51465807-G-T p.Pro217Thr missense AGAP7 1 48452 2.0639E-5 24226 0 3.51111E-5
10-51465824-G-A p.Pro211Leu missense AGAP7 64 48392 0.00132253 24196 0 0.00478316
10-51465842-T-A p.Asp205Val missense AGAP7 1 49262 2.02996E-5 24631 0 0.00153846
10-51465863-G-A p.Thr198Ile missense AGAP7 1 51282 1.95E-5 25641 0 NA
10-51465865-C-T p.Ser197Ser synonymous AGAP7 129 50044 0.00257773 25022 0 0.0466667
10-51465866-G-A p.Ser197Leu missense AGAP7 4 51948 7.70001E-5 25974 0 0.00124688
10-51465867-A-G p.Ser197Pro missense AGAP7 384 51908 0.0073977 25954 0 0.0160494
10-51465887-T-C p.Asn190Ser missense AGAP7 2 57328 3.4887E-5 28664 0 1.6805E-5
10-51465913-G-T p.Asn181Lys missense AGAP7 256 61160 0.00418574 30580 0 0.0385
10-51465920-G-A p.Thr179Met missense AGAP7 14507 42110 0.344502 21055 1122 0.513183
10-51465930-C-T p.Val176Met missense AGAP7 10 65236 1.5329E-4 32618 0 8.14901E-4
10-51466576-C-T p.Ala172Ala splice_region+synonymous AGAP7 107 21116 0.00506725 10558 22 0.426829
10-51466634-A-G c.465-7T>C splice_region AGAP7 1 56034 1.78463E-5 28017 0 0.023622
10-51483167-G-A c.292+7C>T splice_region AGAP7 1 77246 1.29457E-5 38623 0 0.10324
10-51483189-T-TC p.Asn93fs frameshift AGAP7 1 78478 1.27424E-5 39239 0 NA
10-51483196-G-T p.Phe90Leu missense AGAP7 15 78298 1.91576E-4 39149 0 0.00134048
10-51483209-G-T p.Ala86Glu missense AGAP7 1 77792 1.28548E-5 38896 0 3.84143E-5
10-51483225-A-C p.Ser81Ala missense AGAP7 4 76996 5.19508E-5 38498 0 4.78681E-5
10-51483238-C-T p.Leu76Leu synonymous AGAP7 1 76444 1.30815E-5 38222 0 NA
10-51486055-T-C p.Val49Val synonymous AGAP7 1 3864 2.58799E-4 1932 0 0.634511
10-51486149-T-A p.Asp18Val missense AGAP7 1 21702 4.60787E-5 10851 0 0.015873