Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-7456943-C-T p.Arg6Cys missense ACSM4 11 79584 1.38219E-4 39792 0 0.00100705
12-7456944-G-A p.Arg6His missense ACSM4 2 79576 2.51332E-5 39788 0 2.24502E-4
12-7456944-G-C p.Arg6Pro missense ACSM4 1 79576 1.25666E-5 39788 0 1.66298E-5
12-7456948-C-A p.Tyr7* stop_gained ACSM4 1 79628 1.25584E-5 39814 0 1.66254E-5
12-7456951-G-A p.Gln8Gln synonymous ACSM4 1 79648 1.25552E-5 39824 0 NA
12-7456953-C-T p.Thr9Ile missense ACSM4 1 79652 1.25546E-5 39826 0 4.0213E-6
12-7456967-T-G p.Trp14Gly missense ACSM4 1 79660 1.25534E-5 39830 0 NA
12-7456970-C-T p.Leu15Phe missense ACSM4 1 79660 1.25534E-5 39830 0 NA
12-7456972-C-T p.Leu15Leu synonymous ACSM4 1 79664 1.25527E-5 39832 0 8.31255E-6
12-7456975-C-T p.Thr16Thr synonymous ACSM4 1 79664 1.25527E-5 39832 0 NA
12-7456979-CCACCTGGCCGGCGCTTA-C p.Pro19fs frameshift ACSM4 4 79668 5.02084E-5 39834 0 2.81436E-5
12-7456988-C-T p.Arg21Trp missense ACSM4 106 79680 0.00133032 39840 0 8.5644E-4
12-7456989-G-A p.Arg21Gln missense ACSM4 3 79662 3.76591E-5 39831 0 6.37146E-5
12-7456991-C-T p.Arg22Cys missense ACSM4 49 79664 6.15083E-4 39832 0 0.00553877
12-7456992-G-A p.Arg22His missense ACSM4 12 79662 1.50636E-4 39831 0 6.25E-4
12-7457003-G-A p.Asp26Asn missense ACSM4 2 79722 2.50872E-5 39861 0 NA
12-7457019-C-T p.Thr31Met missense ACSM4 17 79728 2.13225E-4 39864 0 4.4586E-4
12-7457020-G-A p.Thr31Thr synonymous ACSM4 18 79722 2.25785E-4 39861 1 0.00100705
12-7457026-G-A p.Leu33Leu synonymous ACSM4 1 79740 1.25408E-5 39870 0 NA
12-7457032-T-G p.Leu35Leu synonymous ACSM4 2 79740 2.50815E-5 39870 0 8.31117E-6
12-7457034-C-A p.Ala36Asp missense ACSM4 1 79748 1.25395E-5 39874 0 8.31158E-6
12-7457043-A-G p.Glu39Gly missense ACSM4 1 79778 1.25348E-5 39889 0 NA
12-7457054-C-T p.Arg43Cys missense ACSM4 1 79742 1.25404E-5 39871 0 1.66309E-5
12-7457055-G-A p.Arg43His missense ACSM4 1 79722 1.25436E-5 39861 0 0.00151057
12-7457066-C-T p.Pro47Ser missense ACSM4 2 79718 2.50884E-5 39859 0 NA
12-7457068-A-G p.Pro47Pro synonymous ACSM4 4 79716 5.01781E-5 39858 0 3.61949E-5
12-7457072-C-T p.Pro49Ser missense ACSM4 71 79686 8.90997E-4 39843 0 0.00279125
12-7457080-C-T p.Asn51Asn synonymous ACSM4 1 79700 1.25471E-5 39850 0 4.02214E-6
12-7457087-T-C p.Phe54Leu missense ACSM4 2 79664 2.51054E-5 39832 0 8.32847E-6
12-7457105-G-A p.Asp60Asn missense ACSM4 2 79532 2.51471E-5 39766 0 0.00100705
12-7457121-A-G p.Lys65Arg missense ACSM4 1 79406 1.25935E-5 39703 0 NA
12-7459126-C-T c.202-3C>T splice_region ACSM4 1 79666 1.25524E-5 39833 0 6.37796E-5
12-7459131-A-G p.Thr68Thr splice_region+synonymous ACSM4 8 79824 1.0022E-4 39912 0 1.03008E-4
12-7459135-G-A p.Glu70Lys missense ACSM4 9 79888 1.12658E-4 39944 0 0.00875
12-7459135-G-T p.Glu70* stop_gained ACSM4 4 79888 5.00701E-5 39944 0 7.31422E-5
12-7459149-C-T p.Asn74Asn synonymous ACSM4 1 80160 1.2475E-5 40080 0 2.15322E-5
12-7459171-G-T p.Gly82Cys missense ACSM4 2 80380 2.48818E-5 40190 0 NA
12-7459177-G-T p.Gly84Trp missense ACSM4 1 80422 1.24344E-5 40211 0 NA
12-7459179-G-A p.Gly84Gly synonymous ACSM4 2 80432 2.48657E-5 40216 0 1.76572E-5
12-7459185-G-A p.Glu86Glu synonymous ACSM4 1 80478 1.24258E-5 40239 0 3.18776E-5
12-7459192-T-C p.Trp89Arg missense ACSM4 3 80496 3.72689E-5 40248 0 1.27812E-4
12-7459194-G-C p.Trp89Cys missense ACSM4 1 80512 1.24205E-5 40256 0 NA
12-7459228-G-T p.Ala101Ser missense ACSM4 3 80476 3.72782E-5 40238 0 6.38366E-5
12-7459228-G-A p.Ala101Thr missense ACSM4 1 80476 1.24261E-5 40238 0 1.40276E-5
12-7459233-C-T p.Ala102Ala synonymous ACSM4 1 80490 1.24239E-5 40245 0 NA
12-7459236-C-T p.Asn103Asn synonymous ACSM4 3 80500 3.72671E-5 40250 0 1.66967E-5
12-7459237-G-A p.Val104Met missense ACSM4 5 80502 6.21103E-5 40251 0 6.55944E-5
12-7459248-G-C p.Lys107Asn missense ACSM4 1 80502 1.24221E-5 40251 0 NA
12-7459259-T-A p.Leu111Gln missense ACSM4 1 80496 1.2423E-5 40248 0 NA
12-7459261-C-T p.Gln112* stop_gained ACSM4 15 80476 1.86391E-4 40238 0 0.00100806
12-7459266-A-G p.Arg113Arg synonymous ACSM4 1 80480 1.24254E-5 40240 0 1.91461E-4
12-7459273-C-T p.Arg116Cys missense ACSM4 1 80454 1.24295E-5 40227 0 1.22716E-5
12-7459274-G-A p.Arg116His missense ACSM4 3 80452 3.72893E-5 40226 0 6.69942E-5
12-7459280-C-T p.Ala118Val missense ACSM4 8 80450 9.94406E-5 40225 0 0.00100705
12-7459281-CG-C p.Val119fs frameshift ACSM4 12 80444 1.49172E-4 40222 0 1.53512E-4
12-7459281-C-T p.Ala118Ala synonymous ACSM4 13 80444 1.61603E-4 40222 1 0.00100705
12-7459286-T-C p.Ile120Thr missense ACSM4 2 80442 2.48626E-5 40221 0 NA
12-7459294-A-C p.Arg123Arg synonymous ACSM4 396 80382 0.00492648 40191 8 0.0101702
12-7459294-A-G p.Arg123Gly missense ACSM4 1 80390 1.24394E-5 40195 0 NA
12-7459299-C-T p.Ile124Ile synonymous ACSM4 1 80342 1.24468E-5 40171 0 NA
12-7459310-G-T p.Trp128Leu missense ACSM4 4 80246 4.98467E-5 40123 0 2.13988E-4
12-7459316-T-C p.Val130Ala missense ACSM4 1 80134 1.24791E-5 40067 0 NA
12-7459320-T-C p.Asn131Asn synonymous ACSM4 3 80128 3.74401E-5 40064 0 2.88993E-5
12-7459329-C-A p.Cys134* stop_gained ACSM4 1 80028 1.24956E-5 40014 0 NA
12-7459334-G-A p.Arg136Gln missense ACSM4 16 79954 2.00115E-4 39977 0 6.25E-4
12-7463128-T-A c.413-7T>A splice_region ACSM4 2 77714 2.57354E-5 38857 0 NA
12-7463134-G-A c.413-1G>A splice_acceptor ACSM4 30 78086 3.84192E-4 39043 0 0.00128493
12-7463136-G-A p.Gly138Gly splice_region+synonymous ACSM4 2 78158 2.55892E-5 39079 0 4.27519E-6
12-7463137-A-G p.Ile139Val missense+splice_region ACSM4 1 78212 1.27858E-5 39106 0 4.26356E-6
12-7463139-C-T p.Ile139Ile synonymous ACSM4 30 78326 3.83015E-4 39163 0 0.00378343
12-7463147-T-C p.Met142Thr missense ACSM4 1 78660 1.27129E-5 39330 0 3.18451E-5
12-7463149-C-A p.Pro143Thr missense ACSM4 4 78718 5.08143E-5 39359 0 6.28141E-4
12-7463150-C-T p.Pro143Leu missense ACSM4 1 78804 1.26897E-5 39402 0 5.31943E-5
12-7463151-G-A p.Pro143Pro synonymous ACSM4 1 78850 1.26823E-5 39425 0 3.18593E-5
12-7463171-C-T p.Ala150Val missense ACSM4 3 79256 3.7852E-5 39628 0 NA
12-7463182-C-T p.Leu154Phe missense ACSM4 1 79422 1.2591E-5 39711 0 4.06875E-6
12-7463188-C-T p.Arg156Trp missense ACSM4 1 79476 1.25824E-5 39738 0 1.62606E-5
12-7463189-G-A p.Arg156Gln missense ACSM4 14 79504 1.76092E-4 39752 0 6.25E-4
12-7463195-G-A p.Arg158Gln missense ACSM4 1 79552 1.25704E-5 39776 0 4.05729E-6
12-7463218-G-A p.Val166Met missense ACSM4 1 79696 1.25477E-5 39848 0 1.84149E-5
12-7463236-G-T p.Ala172Ser missense ACSM4 4 79770 5.01442E-5 39885 0 8.08375E-6
12-7463237-C-T p.Ala172Val missense ACSM4 1 79772 1.25357E-5 39886 0 NA
12-7463238-CCCA-C p.Pro173del conservative_inframe_deletion ACSM4 2 79780 2.50689E-5 39890 0 3.59719E-5
12-7463241-A-T p.Pro173Pro synonymous ACSM4 36248 79532 0.455766 39766 8668 0.452525
12-7463241-AGC-TGT p.ProAla173ProVal missense ACSM4 2 79804 2.50614E-5 39902 0 NA
12-7463241-A-AGT p.Ala174fs frameshift ACSM4 2 79804 2.50614E-5 39902 0 3.4665E-5
12-7463243-C-T p.Ala174Val missense ACSM4 1 79794 1.25323E-5 39897 0 2.83011E-5
12-7463244-G-A p.Ala174Ala synonymous ACSM4 6 79810 7.51785E-5 39905 0 6.37308E-5
12-7463251-TC-T p.Ile178fs frameshift ACSM4 11 79830 1.37793E-4 39915 0 5.24676E-5
12-7463254-A-G p.Ile178Val missense ACSM4 11 79864 1.37734E-4 39932 0 5.05051E-4
12-7463260-T-C p.Leu180Leu synonymous ACSM4 2 79868 2.50413E-5 39934 0 3.18613E-5
12-7463264-A-T p.Glu181Val missense ACSM4 1 79878 1.25191E-5 39939 0 2.61593E-5
12-7463267-G-A p.Cys182Tyr missense ACSM4 5 79882 6.25923E-5 39941 0 1.59256E-4
12-7463269-C-T p.Pro183Ser missense ACSM4 1 79884 1.25182E-5 39942 0 NA
12-7463288-T-C p.Leu189Pro missense ACSM4 2 79874 2.50394E-5 39937 0 NA
12-7463292-G-T p.Leu190Leu synonymous ACSM4 3 79880 3.75563E-5 39940 0 1.7632E-5
12-7463293-G-A p.Val191Met missense ACSM4 3 79884 3.75545E-5 39942 0 1.61244E-5
12-7463307-C-T p.Ser195Ser synonymous ACSM4 22 79840 2.75551E-4 39920 0 5.09587E-4
12-7463315-G-C p.Gly198Ala missense ACSM4 1 79788 1.25332E-5 39894 0 NA
12-7463324-G-T p.Ser201Ile missense ACSM4 124 79708 0.00155568 39854 0 0.00219008
12-7463330-A-G p.Gln203Arg missense ACSM4 2 79650 2.51099E-5 39825 0 1.96599E-5
12-7463343-G-A c.620+1G>A splice_donor ACSM4 1 79462 1.25846E-5 39731 0 4.10715E-6
12-7463347-G-A c.620+5G>A splice_region ACSM4 2 79390 2.51921E-5 39695 0 6.25E-4
12-7469737-G-A p.Ala209Thr missense ACSM4 31 79616 3.89369E-4 39808 0 0.0013186
12-7469743-G-GAAGAGCACAGCTGTGTGGA p.Thr218fs frameshift ACSM4 1 79696 1.25477E-5 39848 0 NA
12-7469745-A-G p.Glu211Glu synonymous ACSM4 6 79712 7.5271E-5 39856 0 6.37064E-5
12-7469753-G-C p.Ser214Thr missense ACSM4 14 79766 1.75513E-4 39883 0 3.82166E-4
12-7469759-T-TGGAAACA p.Ser220fs frameshift ACSM4 1 79764 1.2537E-5 39882 0 3.18471E-5
12-7469761-G-T p.Glu217* stop_gained ACSM4 1 79768 1.25364E-5 39884 0 4.04008E-6
12-7469775-A-G p.Gln221Gln synonymous ACSM4 1 79806 1.25304E-5 39903 0 NA
12-7469780-C-A p.Pro223Gln missense ACSM4 4 79820 5.01128E-5 39910 0 1.84874E-5
12-7469786-C-T p.Thr225Ile missense ACSM4 4 79824 5.01102E-5 39912 0 1.62046E-5
12-7469789-T-C p.Ile226Thr missense ACSM4 1 79836 1.25257E-5 39918 0 NA
12-7469792-A-G p.Tyr227Cys missense ACSM4 2 79852 2.50463E-5 39926 0 2.0107E-5
12-7469796-C-G p.Phe228Leu missense ACSM4 4 79846 5.00964E-5 39923 0 7.29091E-4
12-7469829-C-A p.Ala239Ala synonymous ACSM4 4 79748 5.0158E-5 39874 0 5.03525E-4
12-7469844-C-A p.Ser244Arg missense ACSM4 1 79690 1.25486E-5 39845 0 NA
12-7469850-C-T p.Leu246Leu synonymous ACSM4 11 79628 1.38142E-4 39814 0 1.59205E-4
12-7469851-G-A p.Gly247Ser missense ACSM4 1 79622 1.25593E-5 39811 0 4.00577E-5
12-7469858-G-A p.Gly249Glu missense ACSM4 1 79596 1.25634E-5 39798 0 NA
12-7469864-C-T p.Thr251Ile missense ACSM4 17 79564 2.13664E-4 39782 0 0.00353179
12-7469866-C-T p.Leu252Phe missense ACSM4 4 79582 5.02626E-5 39791 0 NA
12-7469870-G-C p.Cys253Ser missense ACSM4 3 79478 3.77463E-5 39739 0 3.18512E-5
12-7469871-C-T p.Cys253Cys synonymous ACSM4 5 79458 6.29263E-5 39729 0 0.00125
12-7469872-G-A p.Gly254Arg missense ACSM4 6 79450 7.55192E-5 39725 0 6.36943E-5
12-7469872-G-C p.Gly254Arg missense ACSM4 1 79450 1.25865E-5 39725 0 NA
12-7469873-G-C p.Gly254Ala missense ACSM4 1 79426 1.25903E-5 39713 0 3.18512E-5
12-7469876-G-T p.Arg255Met missense+splice_region ACSM4 1 79386 1.25967E-5 39693 0 3.52808E-5
12-7469877-G-A c.764+1G>A splice_donor ACSM4 2 79352 2.52042E-5 39676 0 NA
12-7469882-G-A c.764+6G>A splice_region ACSM4 1208 79258 0.0152414 39629 63 0.0288854
12-7470616-A-G c.765-6A>G splice_region ACSM4 1 80272 1.24576E-5 40136 0 NA
12-7470629-C-A p.Leu258Met missense ACSM4 1 80362 1.24437E-5 40181 0 NA
12-7470631-G-A p.Leu258Leu synonymous ACSM4 2 80380 2.48818E-5 40190 0 8.42389E-6
12-7470637-G-C p.Leu260Phe missense ACSM4 2 80406 2.48738E-5 40203 0 0.00125
12-7470640-G-A p.Lys261Lys synonymous ACSM4 1 80414 1.24356E-5 40207 0 NA
12-7470650-A-G p.Ile265Val missense ACSM4 1 80418 1.2435E-5 40209 0 NA
12-7470658-G-C p.Trp267Cys missense ACSM4 1 80448 1.24304E-5 40224 0 NA
12-7470673-G-C p.Thr272Thr synonymous ACSM4 1 80438 1.24319E-5 40219 0 NA
12-7470688-C-T p.Ala277Ala synonymous ACSM4 93 80436 0.0011562 40218 1 0.0025164
12-7470689-G-A p.Ala278Thr missense ACSM4 1 80438 1.24319E-5 40219 0 2.40939E-5
12-7470713-T-C p.Trp286Arg missense ACSM4 1 80450 1.24301E-5 40225 0 NA
12-7470725-G-A p.Ala290Thr missense ACSM4 1 80448 1.24304E-5 40224 0 NA
12-7470727-C-T p.Ala290Ala synonymous ACSM4 4 80440 4.97265E-5 40220 0 1.64603E-4
12-7470743-C-G p.Arg296Gly missense ACSM4 1 80410 1.24363E-5 40205 0 8.03232E-6
12-7470744-G-A p.Arg296Gln missense ACSM4 8 80406 9.94951E-5 40203 0 7.87218E-4
12-7470749-G-T p.Ala298Ser missense ACSM4 21 80412 2.61155E-4 40206 0 8.59927E-4
12-7470749-GCA-G p.Gln299fs frameshift ACSM4 11 80412 1.36795E-4 40206 0 1.32608E-4
12-7470779-G-A c.921+1G>A splice_donor ACSM4 5 80276 6.22851E-5 40138 0 1.61014E-5
12-7473328-C-T p.Thr310Ile missense ACSM4 1 79614 1.25606E-5 39807 0 NA
12-7473335-T-C p.Tyr312Tyr synonymous ACSM4 1 79656 1.2554E-5 39828 0 NA
12-7473339-A-G p.Ile314Val missense ACSM4 2 79692 2.50966E-5 39846 0 NA
12-7473343-C-T p.Thr315Met missense ACSM4 3 79700 3.76412E-5 39850 0 1.60741E-5
12-7473347-C-T p.Thr316Thr synonymous ACSM4 1 79742 1.25404E-5 39871 0 8.3956E-6
12-7473355-G-A p.Ser319Asn missense ACSM4 1 79764 1.2537E-5 39882 0 8.38617E-6
12-7473360-C-A p.Pro321Thr missense ACSM4 5 79760 6.26881E-5 39880 0 6.71366E-5
12-7473372-C-T p.Arg325Trp missense ACSM4 1 79704 1.25464E-5 39852 0 2.41158E-5
12-7473373-G-A p.Arg325Gln missense ACSM4 1 79714 1.25448E-5 39857 0 NA
12-7473377-G-A p.Met326Ile missense ACSM4 3 79696 3.7643E-5 39848 0 2.53962E-5
12-7473381-G-A p.Val328Met missense ACSM4 4 79640 5.0226E-5 39820 0 5.22815E-5
12-7473403-A-G c.1001+3A>G splice_region ACSM4 3 79438 3.77653E-5 39719 0 4.43427E-5
12-7473408-G-A c.1001+8G>A splice_region ACSM4 1 79366 1.25999E-5 39683 0 NA
12-7475010-C-G c.1002-4C>G splice_region ACSM4 5 79412 6.29628E-5 39706 0 NA
12-7475016-A-G p.Tyr335Cys missense+splice_region ACSM4 1 79594 1.25638E-5 39797 0 4.01984E-6
12-7475033-C-T p.Arg341Trp missense ACSM4 2 79758 2.50759E-5 39879 0 1.28645E-4
12-7475034-G-A p.Arg341Gln missense ACSM4 3 79780 3.76034E-5 39890 0 1.32668E-4
12-7475044-G-A p.Leu344Leu synonymous ACSM4 1 79798 1.25316E-5 39899 0 NA
12-7475046-C-T p.Thr345Ile missense ACSM4 1 79792 1.25326E-5 39896 0 3.18492E-5
12-7475047-C-T p.Thr345Thr synonymous ACSM4 3 79786 3.76006E-5 39893 0 5.22706E-5
12-7475048-G-A p.Gly346Arg missense ACSM4 4 79816 5.01153E-5 39908 0 3.18552E-5
12-7475049-G-A p.Gly346Glu missense ACSM4 1 79832 1.25263E-5 39916 0 4.0201E-6
12-7475050-A-G p.Gly346Gly synonymous ACSM4 1 79830 1.25266E-5 39915 0 4.02023E-6
12-7475062-C-T p.Leu350Leu synonymous ACSM4 1 79886 1.25178E-5 39943 0 NA
12-7475078-G-C p.Glu356Gln missense ACSM4 3 79896 3.75488E-5 39948 0 NA
12-7475081-C-T p.Gln357* stop_gained ACSM4 4380 79790 0.0548941 39895 158 0.07125
12-7475083-G-A p.Gln357Gln synonymous ACSM4 3 79924 3.75357E-5 39962 0 NA
12-7475086-G-C p.Trp358Cys missense ACSM4 1 79932 1.25106E-5 39966 0 8.29504E-6
12-7475087-A-T p.Arg359Trp missense ACSM4 1 79934 1.25103E-5 39967 0 NA
12-7475089-G-A p.Arg359Arg synonymous ACSM4 1 79952 1.25075E-5 39976 0 3.18532E-5
12-7475117-G-A p.Gly369Ser missense ACSM4 2 80038 2.49881E-5 40019 0 4.0245E-6
12-7475130-C-T p.Thr373Met missense ACSM4 9 80018 1.12475E-4 40009 0 2.34088E-4
12-7475130-C-G p.Thr373Arg missense ACSM4 1 80018 1.24972E-5 40009 0 3.18593E-5
12-7475832-A-C p.Gly376Gly splice_region+synonymous ACSM4 3 79884 3.75545E-5 39942 0 2.09459E-5
12-7475833-A-G p.Met377Val missense ACSM4 1 79894 1.25166E-5 39947 0 1.48377E-5
12-7475848-C-T p.Gln382* stop_gained ACSM4 5 80046 6.24641E-5 40023 0 6.37267E-5
12-7475873-G-T p.Gly390Val missense ACSM4 2 80182 2.49433E-5 40091 0 1.12859E-5
12-7475873-G-A p.Gly390Asp missense ACSM4 1 80182 1.24716E-5 40091 0 8.1722E-6
12-7475874-T-A p.Gly390Gly synonymous ACSM4 1 80192 1.24701E-5 40096 0 NA
12-7475881-G-C p.Gly393Arg missense ACSM4 1 80196 1.24694E-5 40098 0 NA
12-7475885-A-G p.Lys394Arg missense ACSM4 1 80192 1.24701E-5 40096 0 4.09199E-6
12-7475895-G-T p.Leu397Leu synonymous ACSM4 1 80210 1.24673E-5 40105 0 3.32373E-5
12-7475896-C-T p.Pro398Ser missense ACSM4 4 80206 4.98716E-5 40103 0 3.3188E-5
12-7475900-A-G p.Tyr399Cys missense ACSM4 1 80210 1.24673E-5 40105 0 NA
12-7475901-T-C p.Tyr399Tyr synonymous ACSM4 6 80212 7.48018E-5 40106 0 3.2023E-4
12-7475918-G-A c.1206+8G>A splice_region ACSM4 2 80174 2.49457E-5 40087 0 4.16077E-6
12-7476053-A-G c.1207-2A>G splice_acceptor ACSM4 5 79680 6.2751E-5 39840 0 4.02547E-6
12-7476061-G-C p.Asp405His missense ACSM4 9 79702 1.12921E-4 39851 0 0.00100705
12-7476063-T-C p.Asp405Asp synonymous ACSM4 2 79674 2.51023E-5 39837 0 3.18512E-5
12-7476064-G-T p.Glu406* stop_gained ACSM4 1 79672 1.25515E-5 39836 0 8.35827E-6
12-7476064-G-A p.Glu406Lys missense ACSM4 1 79672 1.25515E-5 39836 0 NA
12-7476073-A-C p.Asn409His missense ACSM4 3 79692 3.76449E-5 39846 0 5.00242E-5
12-7476088-G-A p.Gly414Ser missense ACSM4 1 79718 1.25442E-5 39859 0 NA
12-7476119-A-T p.Lys424Ile missense ACSM4 1 79700 1.25471E-5 39850 0 NA
12-7476122-C-A p.Pro425His missense ACSM4 2 79688 2.50979E-5 39844 0 2.50054E-5
12-7476127-C-A p.Arg427Arg synonymous ACSM4 808 79680 0.0101406 39840 4 0.00906344
12-7476127-C-T p.Arg427Trp missense ACSM4 9 79696 1.12929E-4 39848 0 1.1263E-4
12-7476128-G-A p.Arg427Gln missense ACSM4 1 79678 1.25505E-5 39839 0 2.41346E-5
12-7476131-C-T p.Pro428Leu missense ACSM4 1 79644 1.25559E-5 39822 0 8.35785E-6
12-7476137-G-T p.Cys430Phe missense ACSM4 1 79640 1.25565E-5 39820 0 NA
12-7476145-T-G p.Ser433Ala missense ACSM4 32 79566 4.02182E-4 39783 0 0.00136841
12-7476153-T-C p.Tyr435Tyr synonymous ACSM4 207 79582 0.00260109 39791 0 0.00340743
12-7476158-T-A c.1308+2T>A splice_donor ACSM4 2 79522 2.51503E-5 39761 0 3.18471E-5
12-7476164-G-A c.1308+8G>A splice_region ACSM4 1 79476 1.25824E-5 39738 0 8.62753E-6
12-7476876-C-T p.Pro439Leu missense ACSM4 1 79894 1.25166E-5 39947 0 NA
12-7476878-C-T p.Gln440* stop_gained ACSM4 2 79948 2.50163E-5 39974 0 1.21219E-5
12-7476892-C-T p.Ala444Ala synonymous ACSM4 2 80188 2.49414E-5 40094 0 NA
12-7476894-C-T p.Thr445Met missense ACSM4 28 80228 3.49005E-4 40114 0 0.00100806
12-7476909-T-C p.Phe450Ser missense ACSM4 2 80386 2.488E-5 40193 0 NA
12-7476934-G-A p.Val458Val synonymous ACSM4 1 80536 1.24168E-5 40268 0 NA
12-7476963-T-A p.Val468Asp missense ACSM4 1 80606 1.2406E-5 40303 0 3.18431E-5
12-7476984-T-G p.Ile475Ser missense ACSM4 2 80618 2.48084E-5 40309 0 NA
12-7476992-T-G p.Ser478Ala missense ACSM4 2 80638 2.48022E-5 40319 0 3.9992E-6
12-7477099-C-G p.Arg481Gly missense ACSM4 1 80534 1.24171E-5 40267 0 4.01297E-6
12-7477100-G-A p.Arg481His missense ACSM4 1226 80524 0.0152253 40262 65 0.0287162
12-7477114-G-A p.Glu486Lys missense ACSM4 1 80524 1.24187E-5 40262 0 1.20373E-5
12-7477117-G-T p.Val487Leu missense ACSM4 1 80526 1.24183E-5 40263 0 1.60488E-5
12-7477122-G-A p.Glu488Glu synonymous ACSM4 1 80530 1.24177E-5 40265 0 3.20978E-5
12-7477122-G-T p.Glu488Asp missense ACSM4 2 80530 2.48355E-5 40265 0 1.65722E-5
12-7477131-C-T p.Leu491Leu synonymous ACSM4 1 80530 1.24177E-5 40265 0 NA
12-7477133-T-C p.Ile492Thr missense ACSM4 1 80528 1.2418E-5 40264 0 2.80879E-5
12-7477158-G-A p.Ser500Ser synonymous ACSM4 2 80496 2.4846E-5 40248 0 6.37267E-5
12-7477180-C-T p.Gln508* stop_gained ACSM4 2 80438 2.48639E-5 40219 0 6.25E-4
12-7477186-C-T p.Arg510Cys missense ACSM4 4 80418 4.97401E-5 40209 0 1.41403E-4
12-7477187-G-A p.Arg510His missense ACSM4 1 80412 1.2436E-5 40206 0 8.32251E-6
12-7477188-C-T p.Arg510Arg synonymous ACSM4 1 80410 1.24363E-5 40205 0 1.66525E-5
12-7477189-G-A p.Gly511Arg missense ACSM4 3 80412 3.73079E-5 40206 0 0.00125
12-7479565-G-C c.1537-7G>C splice_region ACSM4 1 79998 1.25003E-5 39999 0 4.513E-6
12-7479580-A-G p.Lys515Lys synonymous ACSM4 1 80038 1.24941E-5 40019 0 NA
12-7479600-C-A p.Ala522Glu missense ACSM4 3 80098 3.74541E-5 40049 0 1.77635E-4
12-7479602-C-T p.Pro523Ser missense ACSM4 1 80086 1.24866E-5 40043 0 NA
12-7479603-C-G p.Pro523Arg missense ACSM4 1 80094 1.24853E-5 40047 0 NA
12-7479604-C-G p.Pro523Pro synonymous ACSM4 1 80090 1.2486E-5 40045 0 NA
12-7479604-C-T p.Pro523Pro synonymous ACSM4 4 80090 4.99438E-5 40045 0 NA
12-7479607-T-G p.Phe524Leu missense ACSM4 1 80094 1.24853E-5 40047 0 4.04937E-6
12-7479618-A-G p.Asn528Ser missense ACSM4 1 80120 1.24813E-5 40060 0 NA
12-7479627-A-T p.Lys531Ile missense ACSM4 1 80118 1.24816E-5 40059 0 1.00916E-5
12-7479630-T-C p.Leu532Ser missense ACSM4 3 80120 3.74438E-5 40060 0 1.91034E-4
12-7479647-G-C p.Asp538His missense ACSM4 1 80104 1.24838E-5 40052 0 NA
12-7479655-G-GA p.Ser543fs frameshift ACSM4 1 80090 1.2486E-5 40045 0 1.15276E-5
12-7479692-G-T c.1656+1G>T splice_donor ACSM4 1 79986 1.25022E-5 39993 0 NA
12-7479696-G-A c.1656+5G>A splice_region ACSM4 11 79978 1.37538E-4 39989 0 1.30438E-4
12-7480882-G-A c.1657-1G>A splice_acceptor ACSM4 1 79262 1.26164E-5 39631 0 NA
12-7480909-G-T p.Lys561Asn missense ACSM4 1 79542 1.2572E-5 39771 0 NA
12-7480915-C-T p.Ile563Ile synonymous ACSM4 5 79538 6.2863E-5 39769 0 2.04183E-4
12-7480917-C-T p.Thr564Ile missense ACSM4 3 79530 3.77216E-5 39765 0 NA
12-7480918-T-A p.Thr564Thr synonymous ACSM4 648 79536 0.00814725 39768 7 0.0154297
12-7480925-A-C p.Ile567Leu missense ACSM4 1 79560 1.25691E-5 39780 0 NA
12-7480931-C-T p.Arg569Cys missense ACSM4 50 79552 6.2852E-4 39776 0 9.13163E-4
12-7480932-G-A p.Arg569His missense ACSM4 7 79532 8.80149E-5 39766 0 5.03525E-4
12-7480936-C-G p.Asn570Lys missense ACSM4 13 79522 1.63477E-4 39761 0 5.03525E-4
12-7480936-C-T p.Asn570Asn synonymous ACSM4 2 79522 2.51503E-5 39761 0 2.22987E-4
12-7480937-G-A p.Val571Ile missense ACSM4 1 79516 1.25761E-5 39758 0 0.00100705
12-7480947-A-G p.Asp574Gly missense ACSM4 1 79504 1.2578E-5 39752 0 NA
12-7480951-A-G p.Gln575Gln synonymous ACSM4 1 79466 1.2584E-5 39733 0 NA
12-7480967-T-C p.Ter581Glnext*? stop_lost ACSM4 3 79254 3.7853E-5 39627 0 9.64627E-6