Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-37377122-A-G p.Met1? start_lost ACTR5 1 48554 2.05956E-5 24277 0 2.4357E-5
20-37377124-G-A p.Met1? start_lost ACTR5 6 49096 1.2221E-4 24548 0 9.56206E-5
20-37377130-G-A p.Ala3Ala synonymous ACTR5 1 50222 1.99116E-5 25111 0 NA
20-37377131-A-G p.Asn4Asp missense ACTR5 1 50602 1.97621E-5 25301 0 NA
20-37377139-C-T p.Phe6Phe synonymous ACTR5 12810 51750 0.247536 25875 1571 0.306338
20-37377139-C-G p.Phe6Leu missense ACTR5 1 52800 1.89394E-5 26400 0 3.20102E-5
20-37377151-C-T p.Asp10Asp synonymous ACTR5 1 55970 1.78667E-5 27985 0 1.09527E-5
20-37377159-C-T p.Ala13Val missense ACTR5 1 57994 1.72432E-5 28997 0 1.05474E-5
20-37377161-G-A p.Ala14Thr missense ACTR5 3 58386 5.13822E-5 29193 0 4.09433E-5
20-37377163-A-G p.Ala14Ala synonymous ACTR5 1 59124 1.69136E-5 29562 0 3.04946E-5
20-37377165-C-G p.Pro15Arg missense ACTR5 1 59510 1.68039E-5 29755 0 6.38325E-5
20-37377166-G-T p.Pro15Pro synonymous ACTR5 1 59678 1.67566E-5 29839 0 6.35324E-4
20-37377173-G-A p.Val18Met missense ACTR5 5 60996 8.19726E-5 30498 0 6.37959E-5
20-37377184-C-A p.Ala21Ala synonymous ACTR5 4 62198 6.43107E-5 31099 0 6.77441E-5
20-37377184-C-T p.Ala21Ala synonymous ACTR5 1 62198 1.60777E-5 31099 0 3.19366E-5
20-37377187-C-T p.Gly22Gly synonymous ACTR5 4 62704 6.37918E-5 31352 0 1.27657E-4
20-37377188-C-T p.Pro23Ser missense ACTR5 3 62864 4.77221E-5 31432 0 0.00150923
20-37377194-GCA-G p.His26fs frameshift ACTR5 1 63534 1.57396E-5 31767 0 6.38284E-5
20-37377197-C-T p.His26Tyr missense ACTR5 2 63936 3.12813E-5 31968 0 6.38203E-5
20-37377198-A-T p.His26Leu missense ACTR5 1 63946 1.56382E-5 31973 0 NA
20-37377210-C-T p.Pro30Leu missense ACTR5 1 65556 1.52541E-5 32778 0 1.75156E-5
20-37377211-G-T p.Pro30Pro synonymous ACTR5 5 65594 7.62265E-5 32797 0 1.27673E-4
20-37377220-G-A p.Leu33Leu synonymous ACTR5 1 66286 1.50861E-5 33143 0 2.58438E-5
20-37377235-G-T p.Gly38Gly synonymous ACTR5 1 66628 1.50087E-5 33314 0 6.37836E-5
20-37377249-G-A p.Arg43His missense ACTR5 1 66458 1.50471E-5 33229 0 8.58797E-6
20-37377250-C-T p.Arg43Arg synonymous ACTR5 12 66434 1.8063E-4 33217 0 1.91363E-4
20-37377260-G-A p.Ala47Thr missense ACTR5 1 66356 1.50702E-5 33178 0 NA
20-37377266-C-G p.Pro49Ala missense ACTR5 1 66142 1.5119E-5 33071 0 NA
20-37377266-C-T p.Pro49Ser missense ACTR5 1 66142 1.5119E-5 33071 0 3.18939E-5
20-37377267-C-G p.Pro49Arg missense ACTR5 3 66040 4.5427E-5 33020 0 3.18918E-5
20-37377268-C-T p.Pro49Pro synonymous ACTR5 1 65870 1.51814E-5 32935 0 NA
20-37377281-G-A p.Gly54Ser missense ACTR5 4 65388 6.11733E-5 32694 0 9.65251E-5
20-37377287-G-A p.Glu56Lys missense ACTR5 3 65050 4.61184E-5 32525 0 7.46088E-5
20-37377307-C-T p.Arg62Arg synonymous ACTR5 3 64446 4.65506E-5 32223 0 1.09075E-4
20-37377310-G-A p.Ala63Ala synonymous ACTR5 1 64416 1.55241E-5 32208 0 NA
20-37377312-T-A p.Val64Glu missense ACTR5 1 64250 1.55642E-5 32125 0 NA
20-37377318-C-T p.Ala66Val missense ACTR5 1 63944 1.56387E-5 31972 0 NA
20-37377323-G-T p.Gly68Cys missense ACTR5 1 63856 1.56602E-5 31928 0 NA
20-37377329-G-A p.Gly70Ser missense ACTR5 1 63864 1.56583E-5 31932 0 NA
20-37377348-C-T p.Ser76Leu missense ACTR5 1 62248 1.60648E-5 31124 0 3.19224E-5
20-37377364-G-A p.Gly81Gly synonymous ACTR5 2 64334 3.10878E-5 32167 0 NA
20-37377367-C-T p.Asn82Asn synonymous ACTR5 1 63904 1.56485E-5 31952 0 6.44313E-6
20-37377369-C-T p.Ala83Val missense ACTR5 1 64342 1.55419E-5 32171 0 NA
20-37377371-C-T p.Leu84Leu synonymous ACTR5 2 64834 3.0848E-5 32417 0 3.18918E-5
20-37377387-C-T p.Pro89Leu missense ACTR5 1 66984 1.49289E-5 33492 0 4.90307E-6
20-37377389-C-T p.Leu90Leu synonymous ACTR5 4 67498 5.9261E-5 33749 0 2.89782E-5
20-37377423-A-G p.Asn101Ser missense ACTR5 1 72222 1.38462E-5 36111 0 1.29236E-5
20-37377448-G-A p.Gln109Gln synonymous ACTR5 2 74956 2.66823E-5 37478 0 3.18674E-5
20-37377449-G-A p.Glu110Lys missense ACTR5 3 74984 4.00085E-5 37492 0 1.24411E-5
20-37377455-C-T p.Leu112Leu synonymous ACTR5 4 75482 5.29928E-5 37741 0 3.9248E-5
20-37377461-G-A p.Asp114Asn missense ACTR5 2 76132 2.62702E-5 38066 0 8.30227E-6
20-37377463-C-T p.Asp114Asp synonymous ACTR5 9 76224 1.18073E-4 38112 0 6.25782E-4
20-37377473-C-G p.Gln118Glu missense ACTR5 3 77154 3.88833E-5 38577 0 NA
20-37377475-G-C p.Gln118His missense ACTR5 1 77206 1.29524E-5 38603 0 4.16545E-6
20-37377481-G-A p.Leu120Leu synonymous ACTR5 44 77556 5.67332E-4 38778 0 5.41505E-4
20-37377487-C-T p.Val122Val synonymous ACTR5 1 77738 1.28637E-5 38869 0 9.30406E-6
20-37377492-C-T p.Ser124Leu missense ACTR5 1 78012 1.28185E-5 39006 0 8.40795E-6
20-37377497-G-GGC c.375+1_375+2insGC splice_donor ACTR5 1 78132 1.27989E-5 39066 0 NA
20-37377497-G-GGCTGTGT c.375+1_375+2insGCTGTGT splice_donor ACTR5 3 78132 3.83966E-5 39066 1 NA
20-37377497-G-GGCTGTGTTGATCATCCCATAGTTTTGACAGAAGC c.375+1_375+2insGCTGTGTTGATCATCCCATAGTTTTGACAGAAGC splice_donor ACTR5 2 78132 2.55977E-5 39066 1 NA
20-37377501-AGGGCGGAGTAGGCTG-A c.375+6_375+20delGGGCGGAGTAGGCTG splice_region ACTR5 10 78224 1.27838E-4 39112 0 2.8688E-4
20-37377504-G-C c.375+8G>C splice_region ACTR5 4 78268 5.11065E-5 39134 0 6.37227E-5
20-37378646-A-G c.376-7A>G splice_region ACTR5 3 83276 3.60248E-5 41638 0 1.04773E-4
20-37378651-A-G c.376-2A>G splice_acceptor ACTR5 4 83316 4.801E-5 41658 0 8.26692E-6
20-37378655-C-T p.Gly126Gly splice_region+synonymous ACTR5 1 83330 1.20005E-5 41665 0 3.18593E-5
20-37378657-G-A p.Cys127Tyr missense ACTR5 1 83338 1.19993E-5 41669 0 2.47566E-5
20-37378663-A-T p.Asp129Val missense ACTR5 1 83340 1.1999E-5 41670 0 1.19344E-5
20-37378663-A-C p.Asp129Ala missense ACTR5 1 83340 1.1999E-5 41670 0 8.2462E-6
20-37378668-C-A p.Pro131Thr missense ACTR5 1 83356 1.19967E-5 41678 0 8.24402E-6
20-37378679-GACAGAAGCTGTGTGCAACCC-G p.Glu136fs frameshift ACTR5 1 83368 1.1995E-5 41684 0 NA
20-37378682-A-G p.Thr135Thr synonymous ACTR5 8 83378 9.59486E-5 41689 0 9.55171E-5
20-37378683-G-C p.Glu136Gln missense ACTR5 1 83380 1.19933E-5 41690 0 NA
20-37378691-G-A p.Val138Val synonymous ACTR5 223 83380 0.0026745 41690 4 0.00547596
20-37378696-A-G p.Asn140Ser missense ACTR5 2 83390 2.39837E-5 41695 0 0.00100705
20-37378698-C-G p.Pro141Ala missense ACTR5 1 83390 1.19918E-5 41695 0 NA
20-37378711-G-A p.Arg145Gln missense ACTR5 2 83400 2.39808E-5 41700 0 3.9763E-6
20-37378713-C-T p.Gln146* stop_gained ACTR5 1 83400 1.19904E-5 41700 0 8.23683E-6
20-37378715-A-G p.Gln146Gln synonymous ACTR5 1 83402 1.19901E-5 41701 0 3.97627E-6
20-37378716-A-G p.Met147Val missense ACTR5 1 83404 1.19898E-5 41702 0 NA
20-37378721-G-A p.Met148Ile missense ACTR5 867 83390 0.0103969 41695 5 0.0125881
20-37378724-T-C p.Ser149Ser synonymous ACTR5 1 83408 1.19893E-5 41704 0 3.9763E-6
20-37378727-G-A p.Glu150Glu synonymous ACTR5 3 83408 3.59678E-5 41704 0 NA
20-37378730-T-G p.Leu151Leu synonymous ACTR5 1 83408 1.19893E-5 41704 0 3.18102E-5
20-37378744-A-G p.Tyr156Cys missense ACTR5 2 83406 2.39791E-5 41703 0 2.78341E-5
20-37378748-G-A p.Gly157Gly synonymous ACTR5 5 83402 5.99506E-5 41701 0 7.9526E-5
20-37378756-A-G p.Lys160Arg missense ACTR5 2 83406 2.39791E-5 41703 0 7.9526E-6
20-37378758-G-A p.Val161Ile missense ACTR5 1 83404 1.19898E-5 41702 0 NA
20-37378786-G-C p.Ser170Thr missense ACTR5 4 83398 4.79628E-5 41699 0 5.03525E-4
20-37378795-A-G p.His173Arg missense ACTR5 3 83398 3.59721E-5 41699 0 NA
20-37378808-G-A p.Lys177Lys synonymous ACTR5 1 83400 1.19904E-5 41700 0 1.64734E-5
20-37378814-G-A p.Ser179Ser synonymous ACTR5 1 83396 1.1991E-5 41698 0 NA
20-37378814-G-T p.Ser179Ser synonymous ACTR5 1 83396 1.1991E-5 41698 0 NA
20-37378815-A-C p.Met180Leu missense ACTR5 1 83396 1.1991E-5 41698 0 NA
20-37378817-G-A p.Met180Ile missense ACTR5 1 83398 1.19907E-5 41699 0 1.64742E-5
20-37378821-A-G p.Ser182Gly missense ACTR5 2 83396 2.3982E-5 41698 0 1.64745E-5
20-37378824-G-A p.Gly183Arg missense ACTR5 1 83394 1.19913E-5 41697 0 NA
20-37378829-A-C p.Leu184Leu synonymous ACTR5 1 83398 1.19907E-5 41699 0 NA
20-37378829-A-G p.Leu184Leu synonymous ACTR5 1 83398 1.19907E-5 41699 0 8.23818E-6
20-37378830-A-G p.Ile185Val missense ACTR5 1 83400 1.19904E-5 41700 0 NA
20-37378837-C-T p.Ser187Leu missense ACTR5 1 83392 1.19916E-5 41696 0 NA
20-37378838-A-G p.Ser187Ser synonymous ACTR5 2 83388 2.39843E-5 41694 0 4.11984E-5
20-37378854-A-ACG p.His194fs frameshift ACTR5 1 83364 1.19956E-5 41682 0 8.24797E-6
20-37378856-G-C p.Thr193Thr synonymous ACTR5 20 83364 2.39912E-4 41682 0 2.54664E-4
20-37378889-TGCACTTGTG-T c.605+8_605+16delGCACTTGTG splice_region ACTR5 2 83270 2.40183E-5 41635 0 3.18532E-5
20-37380795-G-C p.Lys209Asn missense ACTR5 3 83368 3.5985E-5 41684 0 NA
20-37380796-C-T p.Arg210Cys missense ACTR5 3 83368 3.5985E-5 41684 0 3.32143E-5
20-37380797-G-A p.Arg210His missense ACTR5 2 83370 2.39894E-5 41685 0 8.30068E-6
20-37380798-C-T p.Arg210Arg synonymous ACTR5 5 83374 5.99707E-5 41687 0 1.19374E-5
20-37380803-A-G p.Asn212Ser missense ACTR5 1 83374 1.19941E-5 41687 0 1.59129E-5
20-37380824-C-G p.Ala219Gly missense ACTR5 3 83374 3.59824E-5 41687 0 NA
20-37380839-G-A p.Arg224His missense ACTR5 2 83378 2.39871E-5 41689 0 6.37105E-5
20-37380864-G-A p.Gly232Gly synonymous ACTR5 60 83378 7.19614E-4 41689 1 1.27405E-4
20-37380871-G-A p.Ala235Thr missense ACTR5 1 83368 1.1995E-5 41684 0 3.18471E-5
20-37380877-A-G p.Ile237Val missense ACTR5 6 83368 7.19701E-5 41684 0 1.31915E-4
20-37380892-A-G p.Met242Val missense ACTR5 2 83340 2.39981E-5 41670 0 2.78401E-5
20-37380893-T-G p.Met242Arg missense ACTR5 1 83344 1.19985E-5 41672 0 NA
20-37380896-A-T p.Glu243Val missense ACTR5 3 83340 3.59971E-5 41670 0 3.54026E-4
20-37380904-C-G p.Leu246Val missense ACTR5 1 83320 1.20019E-5 41660 0 8.24348E-6
20-37380921-C-T p.Tyr251Tyr synonymous ACTR5 1 83198 1.20195E-5 41599 0 NA
20-37380922-A-G p.Ile252Val missense ACTR5 1 83192 1.20204E-5 41596 0 1.65246E-5
20-37380924-C-T p.Ile252Ile synonymous ACTR5 1 83158 1.20253E-5 41579 0 3.18451E-5
20-37380925-G-A p.Ala253Thr missense ACTR5 3 83140 3.60837E-5 41570 0 8.26597E-6
20-37380929-A-T p.Glu254Val missense ACTR5 1 83102 1.20334E-5 41551 0 1.2015E-5
20-37380944-G-T c.775+1G>T splice_donor ACTR5 1 82726 1.20881E-5 41363 0 8.33931E-6
20-37383592-C-A c.776-8C>A splice_region ACTR5 1 82794 1.20782E-5 41397 0 4.00058E-6
20-37383615-G-A p.Arg264Gln missense ACTR5 7 83184 8.41508E-5 41592 0 6.25E-4
20-37383616-G-A p.Arg264Arg synonymous ACTR5 1 83192 1.20204E-5 41596 0 NA
20-37383627-A-G p.Tyr268Cys missense ACTR5 1 83268 1.20094E-5 41634 0 NA
20-37383640-T-C p.Asn272Asn synonymous ACTR5 20870 82688 0.252395 41344 2566 0.307654
20-37383643-C-G p.Val273Val synonymous ACTR5 2 83350 2.39952E-5 41675 0 8.2428E-6
20-37383650-A-G p.Met276Val missense ACTR5 3 83356 3.59902E-5 41678 0 8.24226E-6
20-37383661-A-G p.Pro279Pro synonymous ACTR5 8 83360 9.59693E-5 41680 0 3.82117E-4
20-37383670-C-G p.Ser282Arg missense ACTR5 1 83352 1.19973E-5 41676 0 NA
20-37383674-C-T p.Leu284Phe missense ACTR5 2 83344 2.39969E-5 41672 0 NA
20-37383685-C-G p.Ser287Arg missense ACTR5 1 83332 1.20002E-5 41666 0 NA
20-37383695-T-C p.Ser291Pro missense ACTR5 1 83298 1.20051E-5 41649 0 NA
20-37383707-C-G p.Gln295Glu missense ACTR5 4 83236 4.80561E-5 41618 0 1.19326E-5
20-37383709-A-G p.Gln295Gln synonymous ACTR5 1 83218 1.20166E-5 41609 0 3.97769E-6
20-37383716-C-T p.Arg298Trp missense ACTR5 3 83162 3.60742E-5 41581 0 3.31488E-5
20-37383732-G-A p.Arg303Gln missense ACTR5 3 82890 3.61925E-5 41445 0 6.37024E-5
20-37383734-C-T p.Arg304Trp missense ACTR5 2 82838 2.41435E-5 41419 0 7.97035E-6
20-37383735-G-A p.Arg304Gln missense ACTR5 1 82780 1.20802E-5 41390 0 5.04032E-4
20-37383745-G-A p.Glu307Glu synonymous ACTR5 2 82492 2.42448E-5 41246 0 NA
20-37383750-A-G p.Asn309Ser missense ACTR5 8 82458 9.70191E-5 41229 0 3.47114E-5
20-37383754-C-G p.Ala310Ala synonymous ACTR5 3 82346 3.64316E-5 41173 0 2.63486E-5
20-37383755-C-T p.Arg311Trp missense ACTR5 2 82304 2.43002E-5 41152 0 8.00384E-6
20-37383756-G-A p.Arg311Gln missense ACTR5 7 82246 8.51105E-5 41123 0 0.00100806
20-37383758-C-T p.Arg312Trp missense ACTR5 1 82164 1.21708E-5 41082 0 3.20318E-5
20-37383759-G-A p.Arg312Gln missense ACTR5 3 82196 3.64981E-5 41098 0 3.1841E-5
20-37383762-G-A p.Arg313Gln missense ACTR5 6 82208 7.29856E-5 41104 0 4.00599E-5
20-37383763-G-A p.Arg313Arg synonymous ACTR5 1 82210 1.2164E-5 41105 0 NA
20-37383766-G-A p.Glu314Glu synonymous ACTR5 1 82150 1.21729E-5 41075 0 NA
20-37383771-A-G p.Lys316Arg missense ACTR5 2 82112 2.4357E-5 41056 0 1.83739E-5
20-37383782-G-T p.Asp320Tyr missense ACTR5 8 82064 9.74849E-5 41032 1 0.00101317
20-37383790-G-A p.Glu322Glu synonymous ACTR5 6 81942 7.32225E-5 40971 0 3.1841E-5
20-37383791-C-T p.Arg323Cys missense ACTR5 2 81900 2.442E-5 40950 0 1.01194E-5
20-37383792-G-A p.Arg323His missense ACTR5 11 81940 1.34245E-4 40970 0 1.11404E-4
20-37383801-G-A p.Arg326Gln missense ACTR5 2 81842 2.44373E-5 40921 0 6.36902E-5
20-37383808-A-G p.Leu328Leu synonymous ACTR5 1 81846 1.22181E-5 40923 0 5.52682E-5
20-37383815-C-T p.Gln331* stop_gained ACTR5 1 81710 1.22384E-5 40855 0 3.18512E-5
20-37383818-G-GAACTTC c.993+1_993+2insAACTTC splice_donor ACTR5 4 81662 4.89824E-5 40831 1 NA
20-37383818-G-GAACTTCTAGAGGATGGCCAGATGGATCAGTTTCACAAAGCTC c.993+1_993+2insAACTTCTAGAGGATGGCCAGATGGATCAGTTTCACAAAGCTC splice_donor ACTR5 2 81662 2.44912E-5 40831 1 NA
20-37384502-A-G p.Glu332Glu splice_region+synonymous ACTR5 2 83238 2.40275E-5 41619 0 3.18613E-5
20-37384503-C-G p.Leu333Val missense ACTR5 3 83244 3.60386E-5 41622 0 1.6481E-5
20-37384511-G-C p.Glu335Asp missense ACTR5 1 83262 1.20103E-5 41631 0 NA
20-37384517-C-G p.Gly337Gly synonymous ACTR5 2 83270 2.40183E-5 41635 0 3.18451E-5
20-37384549-A-G p.Glu348Gly missense ACTR5 1 83300 1.20048E-5 41650 0 3.97674E-6
20-37384550-G-A p.Glu348Glu synonymous ACTR5 1 83304 1.20042E-5 41652 0 8.24035E-6
20-37384556-T-C p.Asn350Asn synonymous ACTR5 1 83300 1.20048E-5 41650 0 NA
20-37384557-A-G p.Met351Val missense ACTR5 1 83302 1.20045E-5 41651 0 NA
20-37384564-C-T p.Ser353Phe missense ACTR5 1 83296 1.20054E-5 41648 0 8.24022E-6
20-37384565-C-G p.Ser353Ser synonymous ACTR5 1 83296 1.20054E-5 41648 0 NA
20-37384574-G-A p.Glu356Glu synonymous ACTR5 4 83304 4.80169E-5 41652 0 NA
20-37384575-C-G p.Leu357Val missense ACTR5 3 83306 3.60118E-5 41653 0 1.64818E-5
20-37384599-A-G p.Ser365Gly missense ACTR5 4 83296 4.80215E-5 41648 0 9.55414E-5
20-37384600-G-A p.Ser365Asn missense ACTR5 1 83296 1.20054E-5 41648 0 3.18492E-5
20-37384603-T-C p.Ile366Thr missense ACTR5 1 83300 1.20048E-5 41650 0 3.977E-6
20-37384614-C-G p.Gln370Glu missense ACTR5 1 83298 1.20051E-5 41649 0 NA
20-37384634-C-T p.Leu376Leu synonymous ACTR5 123 83258 0.00147734 41629 0 0.00353535
20-37384639-C-T p.Ala378Val missense ACTR5 3 83230 3.60447E-5 41615 0 1.16488E-4
20-37384640-G-A p.Ala378Ala synonymous ACTR5 1 83236 1.2014E-5 41618 0 8.32168E-6
20-37384643-A-G p.Glu379Glu synonymous ACTR5 1 83226 1.20155E-5 41613 0 NA
20-37384644-G-T p.Val380Phe missense ACTR5 1 83222 1.20161E-5 41611 0 3.18431E-5
20-37384647-A-G p.Asn381Asp missense ACTR5 1 83198 1.20195E-5 41599 0 NA
20-37384648-A-G p.Asn381Ser missense ACTR5 4 83202 4.80758E-5 41601 0 1.59236E-4
20-37384649-C-T p.Asn381Asn synonymous ACTR5 12 83192 1.44245E-4 41596 0 0.01
20-37384655-G-A p.Glu383Glu synonymous ACTR5 17 83118 2.04529E-4 41559 0 0.00151362
20-37384670-C-G p.Asp388Glu missense ACTR5 1 82802 1.2077E-5 41401 0 NA
20-37384672-G-T p.Ser389Ile missense ACTR5 1 82738 1.20863E-5 41369 0 NA
20-37384676-G-A p.Lys390Lys synonymous ACTR5 1 82596 1.21071E-5 41298 0 NA
20-37384681-A-C p.Glu392Ala missense+splice_region ACTR5 217 82422 0.00263279 41211 3 0.00541608
20-37384682-G-GACCCCTGACCTGGAGCAGCTGGAGCC c.1176_1176+1insACCCCTGACCTGGAGCAGCTGGAGCC splice_donor ACTR5 3 82400 3.64078E-5 41200 1 NA
20-37384682-G-C p.Glu392Asp missense+splice_region ACTR5 2 82400 2.42718E-5 41200 0 1.21003E-5
20-37384687-C-T c.1176+5C>T splice_region ACTR5 1 82142 1.2174E-5 41071 0 4.0561E-6
20-37394041-T-C c.1177-4T>C splice_region ACTR5 1 83044 1.20418E-5 41522 0 8.24103E-6
20-37394042-T-A c.1177-3T>A splice_region ACTR5 1 83068 1.20383E-5 41534 0 3.18492E-5
20-37394048-C-T p.Pro394Ser missense ACTR5 1 83144 1.20273E-5 41572 0 NA
20-37394070-C-T p.Pro401Leu missense ACTR5 2 83218 2.40333E-5 41609 0 5.05051E-4
20-37394071-G-A p.Pro401Pro synonymous ACTR5 1 83224 1.20158E-5 41612 0 6.25782E-4
20-37394087-G-C p.Glu407Gln missense ACTR5 2 83234 2.40286E-5 41617 0 8.23683E-6
20-37394087-G-A p.Glu407Lys missense ACTR5 1 83234 1.20143E-5 41617 0 NA
20-37394090-A-G p.Ser408Gly missense ACTR5 1 83238 1.20137E-5 41619 0 NA
20-37394091-G-T p.Ser408Ile missense ACTR5 1 83238 1.20137E-5 41619 0 8.23669E-6
20-37394093-A-G p.Met409Val missense ACTR5 2 83238 2.40275E-5 41619 0 5.04032E-4
20-37394100-A-G p.Asp411Gly missense ACTR5 6 83228 7.20911E-5 41614 0 1.64737E-5
20-37394113-G-C p.Leu415Phe missense ACTR5 3 83202 3.60568E-5 41601 0 8.23682E-5
20-37394118-C-G p.Ser417* stop_gained ACTR5 1 83194 1.20201E-5 41597 0 1.59115E-5
20-37394129-C-A p.Pro421Thr missense ACTR5 1 83154 1.20259E-5 41577 0 NA
20-37394144-C-T p.Pro426Ser missense ACTR5 5 83130 6.01468E-5 41565 0 NA
20-37394145-C-T p.Pro426Leu missense ACTR5 5 83124 6.01511E-5 41562 0 5.03525E-4
20-37394146-G-A p.Pro426Pro synonymous ACTR5 2 83114 2.40633E-5 41557 0 3.97861E-6
20-37394155-T-C p.Thr429Thr synonymous ACTR5 2 83074 2.40749E-5 41537 0 3.1837E-5
20-37394884-G-A p.Val433Met missense ACTR5 60 83384 7.19563E-4 41692 0 0.00238343
20-37394884-G-T p.Val433Leu missense ACTR5 2 83386 2.39848E-5 41693 0 NA
20-37394886-G-A p.Val433Val synonymous ACTR5 1 83388 1.19921E-5 41694 0 NA
20-37394895-G-A p.Leu436Leu synonymous ACTR5 1 83388 1.19921E-5 41694 0 NA
20-37394913-A-G p.Leu442Leu synonymous ACTR5 1 83384 1.19927E-5 41692 0 1.9931E-5
20-37394933-T-C p.Ile449Thr missense ACTR5 149 83392 0.00178674 41696 0 0.00369239
20-37394935-C-T p.Arg450* stop_gained ACTR5 5 83394 5.99564E-5 41697 0 2.786E-5
20-37394936-G-A p.Arg450Gln missense ACTR5 1 83396 1.1991E-5 41698 0 1.64995E-5
20-37394949-T-G p.Ile454Met missense ACTR5 2 83400 2.39808E-5 41700 0 NA
20-37394952-T-C p.Ile455Ile synonymous ACTR5 1 83394 1.19913E-5 41697 0 NA
20-37394963-C-G p.Ser459Cys missense ACTR5 1 83388 1.19921E-5 41694 0 NA
20-37394968-A-T p.Ile461Leu missense ACTR5 196 83378 0.00235074 41689 4 0.00148093
20-37394969-T-C p.Ile461Thr missense ACTR5 1 83388 1.19921E-5 41694 0 1.65172E-5
20-37394970-A-G p.Ile461Met missense ACTR5 2 83388 2.39843E-5 41694 0 8.259E-6
20-37394971-G-A p.Gly462Arg missense ACTR5 4 83386 4.79697E-5 41693 0 3.1841E-5
20-37394988-G-A p.Gly467Gly synonymous ACTR5 249 83368 0.00298676 41684 2 0.00399854
20-37394989-A-G p.Ile468Val missense ACTR5 2 83368 2.399E-5 41684 0 3.18431E-5
20-37394991-T-C p.Ile468Ile synonymous ACTR5 2 83374 2.39883E-5 41687 0 1.21176E-5
20-37394998-A-G p.Thr471Ala missense ACTR5 2 83370 2.39894E-5 41685 0 2.85817E-5
20-37395001-C-T p.Leu472Phe missense ACTR5 4 83370 4.79789E-5 41685 0 NA
20-37395017-A-T p.Asp477Val missense ACTR5 1 83354 1.1997E-5 41677 0 NA
20-37395018-C-G p.Asp477Glu missense+splice_region ACTR5 1 83356 1.19967E-5 41678 0 NA
20-37395022-T-TACCCAAAG c.1433+2_1433+3insACCCAAAG splice_region ACTR5 3 83324 3.6004E-5 41662 1 NA
20-37395022-T-TACCCAAAGGACGTTCAGGAAATGCTGGTTCAGAACGTTTTCCTCACTGGCG c.1433+2_1433+3insACCCAAAGGACGTTCAGGAAATGCTGGTTCAGAACGTTTTCCTCACTGGCG splice_region ACTR5 1 83324 1.20013E-5 41662 0 NA
20-37395024-A-G c.1433+4A>G splice_region ACTR5 4 83304 4.80169E-5 41652 0 1.59205E-4
20-37396107-G-A p.Arg478Arg splice_region+synonymous ACTR5 2 83320 2.40038E-5 41660 0 8.24756E-6
20-37396111-C-T p.Pro480Ser missense ACTR5 2 83336 2.39992E-5 41668 0 4.94723E-5
20-37396112-C-G p.Pro480Arg missense ACTR5 1 83346 1.19982E-5 41673 0 NA
20-37396114-A-G p.Lys481Glu missense ACTR5 2252 83298 0.0270355 41649 37 0.0659617
20-37396117-G-A p.Asp482Asn missense ACTR5 106 83360 0.00127159 41680 0 0.003125
20-37396120-A-G p.Ile483Val missense ACTR5 35413 82648 0.42848 41324 7646 0.449144
20-37396138-CA-C p.Gln489fs frameshift ACTR5 2 83374 2.39883E-5 41687 0 3.18715E-5
20-37396144-G-A p.Val491Ile missense ACTR5 30 83376 3.59816E-4 41688 0 0.00625
20-37396158-C-T p.Gly495Gly synonymous ACTR5 2 83370 2.39894E-5 41685 0 9.56938E-5
20-37396159-G-A p.Gly496Ser missense ACTR5 3 83376 3.59816E-5 41688 0 5.03525E-4
20-37396165-AC-A p.Thr498fs frameshift ACTR5 1 83380 1.19933E-5 41690 0 NA
20-37396167-G-A p.Thr498Thr synonymous ACTR5 34 83378 4.07781E-4 41689 0 0.00124235
20-37396167-GA-G p.Met499fs frameshift ACTR5 1 83378 1.19936E-5 41689 0 NA
20-37396174-C-T p.Pro501Ser missense ACTR5 2 83380 2.39866E-5 41690 0 8.23669E-6
20-37396175-C-T p.Pro501Leu missense ACTR5 1 83380 1.19933E-5 41690 0 NA
20-37396178-G-A p.Gly502Asp missense ACTR5 1 83384 1.19927E-5 41692 0 1.64734E-5
20-37396180-A-T p.Met503Leu missense ACTR5 3 83382 3.5979E-5 41691 0 5.76568E-5
20-37396181-T-C p.Met503Thr missense ACTR5 4 83382 4.7972E-5 41691 0 0.00125
20-37396181-T-G p.Met503Arg missense ACTR5 1 83382 1.1993E-5 41691 0 NA
20-37396182-G-A p.Met503Ile missense ACTR5 1 83384 1.19927E-5 41692 0 3.18613E-5
20-37396190-GA-G p.Met507fs frameshift ACTR5 1 83382 1.1993E-5 41691 0 3.97697E-6
20-37396214-T-G p.Met514Arg missense ACTR5 1 83360 1.19962E-5 41680 0 NA
20-37396218-A-G p.Arg515Arg synonymous ACTR5 2 83356 2.39935E-5 41678 0 8.23845E-6
20-37396220-C-T p.Pro516Leu missense ACTR5 1 83358 1.19964E-5 41679 0 NA
20-37396225-C-T p.Arg518Trp missense ACTR5 4 83354 4.79881E-5 41677 0 2.47194E-5
20-37396226-G-A p.Arg518Gln missense ACTR5 6 83356 7.19804E-5 41678 0 2.71923E-4
20-37396232-C-CT p.Gln522fs frameshift ACTR5 1 83330 1.20005E-5 41665 0 8.01905E-6
20-37396243-C-T c.1566+4C>T splice_region ACTR5 2 83204 2.40373E-5 41602 0 NA
20-37400216-G-A p.Ser527Ser synonymous ACTR5 4 83268 4.80377E-5 41634 0 3.3437E-5
20-37400218-A-G p.Asn528Ser missense ACTR5 1 83276 1.20083E-5 41638 0 NA
20-37400221-C-T p.Pro529Leu missense ACTR5 4 83288 4.80261E-5 41644 0 NA
20-37400234-C-G p.Ala533Ala synonymous ACTR5 1 83296 1.20054E-5 41648 0 8.26528E-6
20-37400238-T-TA p.Tyr535fs frameshift ACTR5 2 83300 2.40096E-5 41650 0 NA
20-37400241-G-A p.Gly536Ser missense ACTR5 2 83304 2.40085E-5 41652 0 1.27413E-4
20-37400247-C-T p.Arg538Cys missense ACTR5 1 83316 1.20025E-5 41658 0 5.03525E-4
20-37400267-C-T p.His544His synonymous ACTR5 1 83314 1.20028E-5 41657 0 6.59185E-5
20-37400274-G-A p.Asp547Asn missense ACTR5 1 83314 1.20028E-5 41657 0 3.18471E-5
20-37400277-A-G p.Asn548Asp missense ACTR5 25 83310 3.00084E-4 41655 0 5.03525E-4
20-37400283-G-C p.Val550Leu missense ACTR5 1 83298 1.20051E-5 41649 0 9.55475E-5
20-37400295-A-C p.Arg554Arg synonymous ACTR5 1 83276 1.20083E-5 41638 0 NA
20-37400300-A-G p.Lys555Lys synonymous ACTR5 1 83268 1.20094E-5 41634 0 8.24035E-6
20-37400305-A-G p.Tyr557Cys missense ACTR5 1 83252 1.20117E-5 41626 0 NA
20-37400316-G-C p.Gly561Arg missense ACTR5 1 83218 1.20166E-5 41609 0 NA
20-37400322-G-C p.Glu563Gln missense ACTR5 1 83196 1.20198E-5 41598 0 3.97678E-6
20-37400328-C-T p.Leu565Phe missense ACTR5 1 83164 1.20244E-5 41582 0 8.24443E-6
20-37400332-A-G p.Lys566Arg missense ACTR5 12 83172 1.44279E-4 41586 0 1.64921E-5
20-37400336-G-A p.Glu567Glu synonymous ACTR5 3 83134 3.60863E-5 41567 0 NA
20-37400339-C-T p.His568His synonymous ACTR5 1 83124 1.20302E-5 41562 0 NA
20-37400354-C-T p.Ile573Ile synonymous ACTR5 1 83018 1.20456E-5 41509 0 NA
20-37400356-A-G p.Tyr574Cys missense ACTR5 3 83014 3.61385E-5 41507 0 9.55901E-5
20-37400360-C-T p.Val575Val synonymous ACTR5 3 82978 3.61542E-5 41489 0 NA
20-37400361-C-T p.Pro576Ser missense ACTR5 2 82968 2.41057E-5 41484 0 NA
20-37400362-C-T p.Pro576Leu missense ACTR5 1 82958 1.20543E-5 41479 0 NA
20-37400367-C-T p.Arg578Cys missense ACTR5 11 82890 1.32706E-4 41445 1 6.66234E-5
20-37400374-C-T p.Pro580Leu missense ACTR5 46 82838 5.55301E-4 41419 1 0.00138648
20-37400375-G-A p.Pro580Pro synonymous ACTR5 36 82818 4.34688E-4 41409 0 5.03525E-4
20-37400379-C-G p.Gln582Glu missense ACTR5 1 82776 1.20808E-5 41388 0 NA
20-37400388-C-T p.Arg585Cys missense ACTR5 1 82774 1.20811E-5 41387 0 7.96762E-6
20-37400390-C-T p.Arg585Arg synonymous ACTR5 1 82732 1.20872E-5 41366 0 3.98311E-6
20-37400405-G-A p.Gln590Gln synonymous ACTR5 3 82582 3.63275E-5 41291 0 NA
20-37400423-C-T p.Ser596Ser synonymous ACTR5 2 82252 2.43155E-5 41126 0 0.00100705
20-37400426-T-TG p.Ala598fs frameshift ACTR5 1 82236 1.21601E-5 41118 0 NA
20-37400434-G-A p.Gly600Glu missense ACTR5 2 82086 2.43647E-5 41043 0 2.00886E-5
20-37400439-G-A p.Gly602Ser missense ACTR5 1 81972 1.21993E-5 40986 0 NA
20-37400440-G-A p.Gly602Asp missense ACTR5 2 81924 2.44129E-5 40962 0 4.72322E-5
20-37400440-G-T p.Gly602Val missense ACTR5 1 81926 1.22061E-5 40963 0 4.03486E-6
20-37400450-G-C p.Glu605Asp missense ACTR5 7 81716 8.56625E-5 40858 0 0.00151057
20-37400450-G-A p.Glu605Glu synonymous ACTR5 1 81716 1.22375E-5 40858 0 NA