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 |