Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-151531879-A-T c.-72A>T 5_prime_UTR_premature_start_codon_gain AADAC 3 81312 3.68949E-5 40656 0 NA
3-151531943-C-T c.-8C>T 5_prime_UTR_premature_start_codon_gain AADAC 18 82832 2.17307E-4 41416 1 6.37796E-5
3-151531964-C-T p.Ser5Leu missense AADAC 1 82842 1.20712E-5 41421 0 3.1902E-5
3-151531965-G-A p.Ser5Ser synonymous AADAC 7 82820 8.45206E-5 41410 0 0.0025
3-151531985-G-C p.Gly12Ala missense AADAC 1 82766 1.20823E-5 41383 0 NA
3-151531989-C-A p.Ile13Ile synonymous AADAC 1088 82740 0.0131496 41370 22 0.0178045
3-151531994-T-C p.Ile15Thr missense AADAC 3 82740 3.62582E-5 41370 0 7.96819E-6
3-151531995-AG-A p.Ala16fs frameshift AADAC 2 82724 2.41768E-5 41362 0 6.38081E-5
3-151531998-A-G p.Ala16Ala synonymous AADAC 2 82692 2.41861E-5 41346 0 7.96743E-6
3-151532003-A-G p.Tyr18Cys missense AADAC 1 82648 1.20995E-5 41324 0 8.24416E-6
3-151532028-C-G p.Asn26Lys missense AADAC 1 82472 1.21253E-5 41236 0 1.6503E-5
3-151532029-G-A p.Val27Ile missense AADAC 1 82450 1.21286E-5 41225 0 4.12575E-5
3-151532030-T-C p.Val27Ala missense AADAC 6 82420 7.27979E-5 41210 0 1.39492E-4
3-151532038-C-A p.Pro30Thr missense AADAC 1 82398 1.21362E-5 41199 0 6.37959E-5
3-151532041-T-C p.Trp31Arg missense AADAC 2 82378 2.42783E-5 41189 0 8.26214E-6
3-151532045-G-A p.Arg32Lys missense AADAC 1 82314 1.21486E-5 41157 0 3.18939E-5
3-151532062-G-A p.Ala38Thr missense AADAC 2 82130 2.43516E-5 41065 0 1.67729E-5
3-151532075-C-G p.Thr42Ser missense AADAC 2 82148 2.43463E-5 41074 0 8.66852E-6
3-151532082-A-C p.Gln44His missense AADAC 4 82100 4.87211E-5 41050 0 3.18796E-5
3-151532084-AT-A p.Leu46fs frameshift AADAC 1 82090 1.21818E-5 41045 0 NA
3-151532089-G-A c.138+1G>A splice_donor AADAC 2 82080 2.43665E-5 41040 0 9.31602E-6
3-151532093-G-T c.138+5G>T splice_region AADAC 1 82038 1.21895E-5 41019 0 9.50245E-6
3-151535146-A-T c.139-8A>T splice_region AADAC 620 83194 0.00745246 41597 16 0.0157925
3-151535146-AT-A c.139-7delT splice_region AADAC 3 83218 3.60499E-5 41609 0 3.35756E-5
3-151535146-ATT-A c.139-7_139-6delTT splice_region AADAC 1 83218 1.20166E-5 41609 0 3.9917E-6
3-151535151-T-C c.139-3T>C splice_region AADAC 1 83236 1.2014E-5 41618 0 NA
3-151535158-C-T p.Thr48Ile missense AADAC 1 83258 1.20109E-5 41629 0 3.18735E-5
3-151535159-A-G p.Thr48Thr synonymous AADAC 1 83260 1.20106E-5 41630 0 3.98286E-6
3-151535160-T-G p.Phe49Val missense AADAC 2 83256 2.40223E-5 41628 0 3.18735E-5
3-151535161-T-G p.Phe49Cys missense AADAC 6 83258 7.20651E-5 41629 1 5.03525E-4
3-151535162-T-C p.Phe49Phe synonymous AADAC 1 83264 1.201E-5 41632 0 NA
3-151535168-G-A p.Glu51Glu synonymous AADAC 4 83278 4.80319E-5 41639 0 3.18898E-5
3-151535179-T-A p.Leu55His missense AADAC 1 83280 1.20077E-5 41640 0 NA
3-151535211-G-A p.Gly66Arg missense AADAC 1 83276 1.20083E-5 41638 0 4.37605E-5
3-151535213-G-C p.Gly66Gly synonymous AADAC 1 83276 1.20083E-5 41638 0 8.24987E-6
3-151535213-G-A p.Gly66Gly synonymous AADAC 1 83276 1.20083E-5 41638 0 6.37633E-5
3-151535222-T-G p.Asp69Glu missense AADAC 3 83272 3.60265E-5 41636 0 1.64954E-5
3-151535227-T-C p.Val71Ala missense AADAC 1 83270 1.20091E-5 41635 0 0.00100806
3-151535235-A-G p.Thr74Ala missense AADAC 70 83268 8.40659E-4 41634 2 0.00359214
3-151535258-G-A p.Val81Val synonymous AADAC 4 83278 4.80319E-5 41639 0 2.47198E-5
3-151535259-A-G p.Thr82Ala missense AADAC 2 83276 2.40165E-5 41638 0 3.18796E-5
3-151535262-G-A p.Glu83Lys missense AADAC 3 83282 3.60222E-5 41641 0 7.95615E-6
3-151535273-C-T p.Phe86Phe synonymous AADAC 13 83304 1.56055E-4 41652 0 3.29554E-5
3-151535278-A-C p.Asn88Thr missense AADAC 1 83304 1.20042E-5 41652 0 NA
3-151535285-T-G p.Leu90Leu synonymous AADAC 1 83308 1.20036E-5 41654 0 3.18857E-5
3-151535289-C-G p.Arg92Gly missense AADAC 1 83310 1.20034E-5 41655 0 3.18857E-5
3-151535289-C-T p.Arg92Trp missense AADAC 1 83310 1.20034E-5 41655 0 3.97791E-6
3-151535290-G-A p.Arg92Gln missense AADAC 1 83312 1.20031E-5 41656 0 2.47166E-5
3-151535296-A-C p.Tyr94Ser missense AADAC 1 83324 1.20013E-5 41662 0 NA
3-151535296-A-G p.Tyr94Cys missense AADAC 1 83324 1.20013E-5 41662 0 8.23873E-6
3-151535348-T-C p.His111His synonymous AADAC 3 83326 3.60032E-5 41663 1 4.12004E-5
3-151535355-G-T p.Gly114Cys missense AADAC 2 83320 2.40038E-5 41660 0 NA
3-151535362-G-A p.Cys116Tyr missense AADAC 1 83316 1.20025E-5 41658 0 3.5828E-5
3-151535363-C-T p.Cys116Cys synonymous AADAC 2 83306 2.40079E-5 41653 0 6.37836E-5
3-151535363-C-A p.Cys116* stop_gained AADAC 1 83306 1.20039E-5 41653 0 8.24348E-6
3-151535363-C-G p.Cys116Trp missense AADAC 2 83306 2.40079E-5 41653 0 NA
3-151535364-G-A p.Val117Met missense AADAC 4 83298 4.80204E-5 41649 0 6.25782E-4
3-151535368-G-C p.Gly118Ala missense AADAC 4 83284 4.80284E-5 41642 0 NA
3-151535377-G-A c.361+1G>A splice_donor AADAC 2 83260 2.40211E-5 41630 0 1.27543E-4
3-151538167-T-G c.362-4T>G splice_region AADAC 4 82730 4.83501E-5 41365 0 8.65973E-6
3-151538171-C-T p.Ala121Val missense+splice_region AADAC 1 82788 1.2079E-5 41394 0 1.27808E-5
3-151538179-G-A p.Gly124Ser missense AADAC 1 82872 1.20668E-5 41436 0 NA
3-151538184-T-C p.Tyr125Tyr synonymous AADAC 2 82860 2.41371E-5 41430 0 8.31324E-6
3-151538186-A-G p.Asp126Gly missense AADAC 1 82858 1.20688E-5 41429 0 1.24712E-5
3-151538218-G-C p.Asp137His missense AADAC 1 83000 1.20482E-5 41500 0 NA
3-151538226-C-T p.Val139Val synonymous AADAC 5 82938 6.0286E-5 41469 0 6.45328E-5
3-151538226-CG-C p.Val140fs frameshift AADAC 1 82938 1.20572E-5 41469 0 NA
3-151538227-G-A p.Val140Ile missense AADAC 1 82956 1.20546E-5 41478 0 4.15172E-5
3-151538229-C-T p.Val140Val synonymous AADAC 1 82922 1.20595E-5 41461 0 NA
3-151542447-A-G c.432-4A>G splice_region AADAC 2 81876 2.44272E-5 40938 0 NA
3-151542448-C-A c.432-3C>A splice_region AADAC 1 81916 1.22076E-5 40958 0 NA
3-151542466-T-A p.Pro149Pro synonymous AADAC 14 82574 1.69545E-4 41287 0 0.00100705
3-151542469-G-T p.Lys150Asn missense AADAC 3 82584 3.63266E-5 41292 0 1.33482E-5
3-151542474-AT-A p.Phe153fs frameshift AADAC 1 82626 1.21027E-5 41313 0 NA
3-151542489-T-C p.Phe157Ser missense AADAC 1 82784 1.20796E-5 41392 0 2.63324E-5
3-151542497-G-T p.Val160Leu missense AADAC 1 82934 1.20578E-5 41467 0 8.65831E-6
3-151542507-C-T p.Ala163Val missense AADAC 1 83070 1.2038E-5 41535 0 8.5511E-6
3-151542513-G-C p.Arg165Thr missense AADAC 1 83076 1.20372E-5 41538 0 NA
3-151542514-G-T p.Arg165Ser missense AADAC 1 83070 1.2038E-5 41535 0 NA
3-151542524-C-T p.Arg169Cys missense AADAC 1 83120 1.20308E-5 41560 0 6.25E-4
3-151542533-G-A p.Val172Ile missense AADAC 306 83124 0.00368125 41562 5 0.00810569
3-151542535-T-A p.Val172Val synonymous AADAC 8 83138 9.62256E-5 41569 0 3.23481E-5
3-151542535-T-C p.Val172Val synonymous AADAC 1 83138 1.20282E-5 41569 0 1.66917E-5
3-151542541-A-G p.Ala174Ala synonymous AADAC 1 83148 1.20267E-5 41574 0 NA
3-151542547-T-C p.Tyr176Tyr synonymous AADAC 3 83146 3.60811E-5 41573 0 1.61791E-5
3-151542556-C-T p.Asn179Asn synonymous AADAC 1 83148 1.20267E-5 41574 0 NA
3-151542560-G-A p.Glu181Lys missense AADAC 1 83130 1.20294E-5 41565 0 4.05502E-6
3-151542568-C-A p.Ile183Ile synonymous AADAC 1 83112 1.2032E-5 41556 0 9.12318E-5
3-151542568-CG-C p.Gly184fs frameshift AADAC 1 83112 1.2032E-5 41556 0 NA
3-151542583-T-C p.Asp188Asp synonymous AADAC 1 83088 1.20354E-5 41544 0 NA
3-151542614-A-G p.Thr199Ala missense AADAC 1 82566 1.21115E-5 41283 0 3.13839E-5
3-151542615-C-T p.Thr199Ile missense AADAC 1 82498 1.21215E-5 41249 0 1.35061E-5
3-151545366-C-T p.Leu202Leu splice_region+synonymous AADAC 1 82958 1.20543E-5 41479 0 6.39059E-5
3-151545384-C-A p.Val208Val synonymous AADAC 1 83070 1.2038E-5 41535 0 NA
3-151545440-T-C p.Val227Ala missense AADAC 1 83020 1.20453E-5 41510 0 3.99671E-6
3-151545447-A-C p.Leu229Phe missense AADAC 2 83004 2.40952E-5 41502 0 3.99131E-6
3-151545450-G-A p.Pro230Pro synonymous AADAC 13 83006 1.56615E-4 41503 0 1.6368E-4
3-151545480-T-C p.Phe240Phe synonymous AADAC 1 82882 1.20653E-5 41441 0 NA
3-151545496-A-G p.Met246Val missense AADAC 1 82796 1.20779E-5 41398 0 NA
3-151545497-T-G p.Met246Arg missense AADAC 1 82790 1.20788E-5 41395 0 NA
3-151545504-A-T p.Arg248Ser missense AADAC 12 82778 1.44966E-4 41389 0 3.55091E-4
3-151545528-T-C p.Thr256Thr synonymous AADAC 8 82694 9.67422E-5 41347 0 1.27575E-4
3-151545531-T-C p.Asp257Asp synonymous AADAC 1 82692 1.20931E-5 41346 0 3.18959E-5
3-151545534-A-G p.Arg258Arg synonymous AADAC 2 82662 2.41949E-5 41331 0 3.99342E-6
3-151545538-C-T p.Leu260Phe missense AADAC 1 82646 1.20998E-5 41323 0 NA
3-151545556-T-C p.Ser266Pro missense AADAC 1 82620 1.21036E-5 41310 0 NA
3-151545560-G-A p.Arg267Lys missense AADAC 5 82636 6.05063E-5 41318 0 8.27007E-6
3-151545564-A-T p.Gln268His missense AADAC 2 82646 2.41996E-5 41323 0 NA
3-151545571-C-T p.Pro271Ser missense AADAC 1 82636 1.21013E-5 41318 0 3.99061E-6
3-151545594-C-T p.Phe278Phe synonymous AADAC 1 82582 1.21092E-5 41291 0 1.65407E-5
3-151545601-G-A p.Val281Ile missense AADAC 64407 82270 0.782873 41135 25407 0.811682
3-151545611-G-T p.Ser284Ile missense AADAC 9 82624 1.08927E-4 41312 0 2.86971E-4
3-151545611-GT-G p.Ser285fs frameshift AADAC 2 82624 2.4206E-5 41312 0 8.29641E-6
3-151545620-T-C p.Leu287Pro missense AADAC 1 82652 1.20989E-5 41326 0 3.9977E-6
3-151545622-CCT-C p.Pro288fs frameshift AADAC 1 82664 1.20972E-5 41332 0 8.30855E-6
3-151545629-G-A p.Arg290Lys missense AADAC 1 82686 1.20939E-5 41343 0 6.25E-4
3-151545640-G-A p.Gly294Arg missense AADAC 1 82750 1.20846E-5 41375 0 8.32058E-6
3-151545643-C-T p.His295Tyr missense AADAC 1 82768 1.2082E-5 41384 0 NA
3-151545645-T-C p.His295His synonymous AADAC 1 82782 1.20799E-5 41391 0 1.664E-5
3-151545685-A-G p.Lys309Glu missense AADAC 2 82968 2.41057E-5 41484 0 0.00100705
3-151545716-C-A p.Ala319Glu missense AADAC 1 83050 1.20409E-5 41525 0 6.37999E-5
3-151545719-C-A p.Ala320Asp missense AADAC 2 83068 2.40767E-5 41534 0 3.1902E-5
3-151545733-G-A p.Asp325Asn missense AADAC 35 83070 4.21331E-4 41535 0 7.3384E-4
3-151545735-T-C p.Asp325Asp synonymous AADAC 1 83074 1.20375E-5 41537 0 1.20245E-5
3-151545748-C-T p.Arg330Cys missense AADAC 5 83046 6.02076E-5 41523 0 3.31126E-5
3-151545763-A-G p.Thr335Ala missense AADAC 1 83022 1.2045E-5 41511 0 7.98397E-6
3-151545773-T-C p.Ile338Thr missense AADAC 1 82990 1.20496E-5 41495 0 4.13373E-5
3-151545776-C-T p.Thr339Ile missense AADAC 1 82982 1.20508E-5 41491 0 NA
3-151545776-C-G p.Thr339Ser missense AADAC 1 82982 1.20508E-5 41491 0 3.98864E-6
3-151545804-T-C p.Asp348Asp synonymous AADAC 2 82898 2.4126E-5 41449 0 NA
3-151545820-A-G p.Thr354Ala missense AADAC 1 82842 1.20712E-5 41421 0 NA
3-151545821-C-A p.Thr354Asn missense AADAC 1 82838 1.20718E-5 41419 0 5.1797E-5
3-151545823-C-T p.Arg355* stop_gained AADAC 1 82834 1.20723E-5 41417 0 1.65112E-5
3-151545824-G-A p.Arg355Gln missense AADAC 1 82846 1.20706E-5 41423 0 1.59393E-5
3-151545829-C-T p.Arg357Cys missense AADAC 1 82848 1.20703E-5 41424 0 4.9536E-5
3-151545830-G-T p.Arg357Leu missense AADAC 8 82834 9.65787E-5 41417 0 NA
3-151545830-G-A p.Arg357His missense AADAC 39 82832 4.70833E-4 41416 1 0.00130999
3-151545835-A-C p.Thr359Pro missense AADAC 1 82844 1.20709E-5 41422 0 6.25E-4
3-151545846-G-C p.Gln362His missense AADAC 1 82858 1.20688E-5 41429 0 NA
3-151545847-G-A p.Val363Met missense AADAC 3 82854 3.62083E-5 41427 0 9.57549E-5
3-151545858-C-G p.Asn366Lys missense AADAC 73 82854 8.81068E-4 41427 1 0.0023371
3-151545858-C-T p.Asn366Asn synonymous AADAC 3 82858 3.62065E-5 41429 0 9.57243E-5
3-151545865-G-A p.Glu369Lys missense AADAC 1 82860 1.20685E-5 41430 0 3.18939E-5
3-151545874-T-A p.Phe372Ile missense AADAC 1 82816 1.2075E-5 41408 0 4.39459E-5
3-151545879-T-C p.His373His synonymous AADAC 178 82836 0.00214882 41418 3 0.0047534
3-151545890-C-A p.Ser377* stop_gained AADAC 1 82808 1.20761E-5 41404 0 NA
3-151545898-G-A p.Gly380Arg missense AADAC 1 82754 1.2084E-5 41377 0 NA
3-151545907-A-G p.Ile383Val missense AADAC 5 82744 6.04273E-5 41372 0 NA
3-151545936-T-A p.Ile392Ile synonymous AADAC 1 82244 1.21589E-5 41122 0 3.19122E-5
3-151545939-G-A p.Glu393Glu synonymous AADAC 4 82126 4.87056E-5 41063 0 9.18619E-6
3-151545939-G-C p.Glu393Asp missense AADAC 2 82126 2.43528E-5 41063 0 NA
3-151545940-T-C p.Trp394Arg missense AADAC 2 81780 2.44559E-5 40890 0 1.85656E-5
3-151545958-T-C p.Ter400Glnext*? stop_lost AADAC 279 80330 0.00347317 40165 1 0.00389365