Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-7456943-C-T p.Arg6Cys missense ACSM4 11 81892 1.34323E-4 40946 0 0.00100705
12-7456944-G-A p.Arg6His missense ACSM4 2 81884 2.44248E-5 40942 0 2.24502E-4
12-7456944-G-C p.Arg6Pro missense ACSM4 1 81884 1.22124E-5 40942 0 1.66298E-5
12-7456948-C-A p.Tyr7* stop_gained ACSM4 1 81938 1.22043E-5 40969 0 1.66254E-5
12-7456951-G-A p.Gln8Gln synonymous ACSM4 1 81960 1.22011E-5 40980 0 NA
12-7456953-C-T p.Thr9Ile missense ACSM4 1 81962 1.22008E-5 40981 0 4.0213E-6
12-7456967-T-G p.Trp14Gly missense ACSM4 1 81974 1.2199E-5 40987 0 NA
12-7456970-C-T p.Leu15Phe missense ACSM4 1 81974 1.2199E-5 40987 0 NA
12-7456972-C-T p.Leu15Leu synonymous ACSM4 1 81978 1.21984E-5 40989 0 8.31255E-6
12-7456975-C-T p.Thr16Thr synonymous ACSM4 1 81978 1.21984E-5 40989 0 NA
12-7456979-CCACCTGGCCGGCGCTTA-C p.Pro19fs frameshift ACSM4 4 81982 4.87912E-5 40991 0 2.81436E-5
12-7456988-C-T p.Arg21Trp missense ACSM4 112 81994 0.00136595 40997 0 8.5644E-4
12-7456989-G-A p.Arg21Gln missense ACSM4 3 81976 3.65961E-5 40988 0 6.37146E-5
12-7456991-C-T p.Arg22Cys missense ACSM4 65 81978 7.92896E-4 40989 0 0.00553877
12-7456992-G-A p.Arg22His missense ACSM4 12 81976 1.46384E-4 40988 0 6.25E-4
12-7457003-G-A p.Asp26Asn missense ACSM4 2 82032 2.43807E-5 41016 0 NA
12-7457019-C-T p.Thr31Met missense ACSM4 17 82036 2.07226E-4 41018 0 4.4586E-4
12-7457020-G-A p.Thr31Thr synonymous ACSM4 19 82030 2.31623E-4 41015 1 0.00100705
12-7457026-G-A p.Leu33Leu synonymous ACSM4 1 82052 1.21874E-5 41026 0 NA
12-7457032-T-G p.Leu35Leu synonymous ACSM4 2 82052 2.43748E-5 41026 0 8.31117E-6
12-7457034-C-A p.Ala36Asp missense ACSM4 1 82060 1.21862E-5 41030 0 8.31158E-6
12-7457043-A-G p.Glu39Gly missense ACSM4 1 82092 1.21815E-5 41046 0 NA
12-7457054-C-T p.Arg43Cys missense ACSM4 1 82054 1.21871E-5 41027 0 1.66309E-5
12-7457055-G-A p.Arg43His missense ACSM4 2 82034 2.43801E-5 41017 0 0.00151057
12-7457066-C-T p.Pro47Ser missense ACSM4 2 82030 2.43813E-5 41015 0 NA
12-7457068-A-G p.Pro47Pro synonymous ACSM4 4 82028 4.87638E-5 41014 0 3.61949E-5
12-7457072-C-T p.Pro49Ser missense ACSM4 71 81996 8.65896E-4 40998 0 0.00279125
12-7457080-C-T p.Asn51Asn synonymous ACSM4 1 82010 1.21936E-5 41005 0 4.02214E-6
12-7457087-T-C p.Phe54Leu missense ACSM4 2 81974 2.4398E-5 40987 0 8.32847E-6
12-7457105-G-A p.Asp60Asn missense ACSM4 2 81844 2.44367E-5 40922 0 0.00100705
12-7457121-A-G p.Lys65Arg missense ACSM4 1 81724 1.22363E-5 40862 0 NA
12-7459126-C-T c.202-3C>T splice_region ACSM4 1 81986 1.21972E-5 40993 0 6.37796E-5
12-7459131-A-G p.Thr68Thr splice_region+synonymous ACSM4 8 82142 9.73923E-5 41071 0 1.03008E-4
12-7459135-G-A p.Glu70Lys missense ACSM4 12 82206 1.45975E-4 41103 0 0.00875
12-7459135-G-T p.Glu70* stop_gained ACSM4 4 82206 4.86583E-5 41103 0 7.31422E-5
12-7459149-C-T p.Asn74Asn synonymous ACSM4 1 82472 1.21253E-5 41236 0 2.15322E-5
12-7459171-G-T p.Gly82Cys missense ACSM4 2 82688 2.41873E-5 41344 0 NA
12-7459177-G-T p.Gly84Trp missense ACSM4 1 82730 1.20875E-5 41365 0 NA
12-7459179-G-A p.Gly84Gly synonymous ACSM4 2 82742 2.41715E-5 41371 0 1.76572E-5
12-7459185-G-A p.Glu86Glu synonymous ACSM4 1 82782 1.20799E-5 41391 0 3.18776E-5
12-7459192-T-C p.Trp89Arg missense ACSM4 3 82802 3.6231E-5 41401 0 1.27812E-4
12-7459194-G-C p.Trp89Cys missense ACSM4 1 82818 1.20747E-5 41409 0 NA
12-7459228-G-T p.Ala101Ser missense ACSM4 3 82786 3.6238E-5 41393 0 6.38366E-5
12-7459228-G-A p.Ala101Thr missense ACSM4 1 82786 1.20793E-5 41393 0 1.40276E-5
12-7459233-C-T p.Ala102Ala synonymous ACSM4 1 82800 1.20773E-5 41400 0 NA
12-7459236-C-T p.Asn103Asn synonymous ACSM4 5 82810 6.03792E-5 41405 0 1.66967E-5
12-7459237-G-A p.Val104Met missense ACSM4 5 82812 6.03777E-5 41406 0 6.55944E-5
12-7459248-G-C p.Lys107Asn missense ACSM4 1 82812 1.20755E-5 41406 0 NA
12-7459259-T-A p.Leu111Gln missense ACSM4 1 82806 1.20764E-5 41403 0 NA
12-7459261-C-T p.Gln112* stop_gained ACSM4 15 82786 1.8119E-4 41393 0 0.00100806
12-7459266-A-G p.Arg113Arg synonymous ACSM4 1 82790 1.20788E-5 41395 0 1.91461E-4
12-7459273-C-T p.Arg116Cys missense ACSM4 1 82764 1.20825E-5 41382 0 1.22716E-5
12-7459274-G-A p.Arg116His missense ACSM4 3 82762 3.62485E-5 41381 0 6.69942E-5
12-7459280-C-T p.Ala118Val missense ACSM4 8 82760 9.66651E-5 41380 0 0.00100705
12-7459281-CG-C p.Val119fs frameshift ACSM4 12 82754 1.45008E-4 41377 0 1.53512E-4
12-7459281-C-T p.Ala118Ala synonymous ACSM4 13 82754 1.57092E-4 41377 1 0.00100705
12-7459286-T-C p.Ile120Thr missense ACSM4 2 82752 2.41686E-5 41376 0 NA
12-7459294-A-C p.Arg123Arg synonymous ACSM4 399 82692 0.00482513 41346 8 0.0101702
12-7459294-A-G p.Arg123Gly missense ACSM4 1 82700 1.20919E-5 41350 0 NA
12-7459299-C-T p.Ile124Ile synonymous ACSM4 1 82652 1.20989E-5 41326 0 NA
12-7459310-G-T p.Trp128Leu missense ACSM4 4 82556 4.8452E-5 41278 0 2.13988E-4
12-7459316-T-C p.Val130Ala missense ACSM4 1 82442 1.21297E-5 41221 0 NA
12-7459320-T-C p.Asn131Asn synonymous ACSM4 3 82436 3.63919E-5 41218 0 2.88993E-5
12-7459329-C-A p.Cys134* stop_gained ACSM4 1 82336 1.21454E-5 41168 0 NA
12-7459334-G-A p.Arg136Gln missense ACSM4 17 82262 2.06657E-4 41131 0 6.25E-4
12-7463128-T-A c.413-7T>A splice_region ACSM4 2 79970 2.50094E-5 39985 0 NA
12-7463134-G-A c.413-1G>A splice_acceptor ACSM4 30 80364 3.73301E-4 40182 0 0.00128493
12-7463136-G-A p.Gly138Gly splice_region+synonymous ACSM4 2 80440 2.48633E-5 40220 0 4.27519E-6
12-7463137-A-G p.Ile139Val missense+splice_region ACSM4 1 80498 1.24227E-5 40249 0 4.26356E-6
12-7463139-C-T p.Ile139Ile synonymous ACSM4 35 80612 4.34179E-4 40306 0 0.00378343
12-7463147-T-C p.Met142Thr missense ACSM4 1 80962 1.23515E-5 40481 0 3.18451E-5
12-7463149-C-A p.Pro143Thr missense ACSM4 4 81018 4.93717E-5 40509 0 6.28141E-4
12-7463150-C-T p.Pro143Leu missense ACSM4 1 81106 1.23295E-5 40553 0 5.31943E-5
12-7463151-G-A p.Pro143Pro synonymous ACSM4 1 81152 1.23226E-5 40576 0 3.18593E-5
12-7463171-C-T p.Ala150Val missense ACSM4 3 81572 3.67773E-5 40786 0 NA
12-7463182-C-T p.Leu154Phe missense ACSM4 1 81734 1.22348E-5 40867 0 4.06875E-6
12-7463188-C-T p.Arg156Trp missense ACSM4 1 81790 1.22264E-5 40895 0 1.62606E-5
12-7463189-G-A p.Arg156Gln missense ACSM4 14 81816 1.71116E-4 40908 0 6.25E-4
12-7463195-G-A p.Arg158Gln missense ACSM4 1 81864 1.22154E-5 40932 0 4.05729E-6
12-7463218-G-A p.Val166Met missense ACSM4 1 82008 1.21939E-5 41004 0 1.84149E-5
12-7463236-G-T p.Ala172Ser missense ACSM4 4 82082 4.87318E-5 41041 0 8.08375E-6
12-7463237-C-T p.Ala172Val missense ACSM4 1 82084 1.21826E-5 41042 0 NA
12-7463238-CCCA-C p.Pro173del conservative_inframe_deletion ACSM4 2 82092 2.43629E-5 41046 0 3.59719E-5
12-7463241-A-T p.Pro173Pro synonymous ACSM4 37104 81834 0.453406 40917 8845 0.452525
12-7463241-AGC-TGT p.ProAla173ProVal missense ACSM4 2 82116 2.43558E-5 41058 0 NA
12-7463241-A-AGT p.Ala174fs frameshift ACSM4 2 82116 2.43558E-5 41058 0 3.4665E-5
12-7463243-C-T p.Ala174Val missense ACSM4 1 82106 1.21794E-5 41053 0 2.83011E-5
12-7463244-G-A p.Ala174Ala synonymous ACSM4 6 82122 7.3062E-5 41061 0 6.37308E-5
12-7463251-TC-T p.Ile178fs frameshift ACSM4 10 82142 1.2174E-4 41071 0 5.24676E-5
12-7463254-A-G p.Ile178Val missense ACSM4 11 82176 1.33859E-4 41088 0 5.05051E-4
12-7463260-T-C p.Leu180Leu synonymous ACSM4 2 82180 2.43368E-5 41090 0 3.18613E-5
12-7463264-A-T p.Glu181Val missense ACSM4 1 82190 1.21669E-5 41095 0 2.61593E-5
12-7463267-G-A p.Cys182Tyr missense ACSM4 5 82196 6.08302E-5 41098 0 1.59256E-4
12-7463269-C-T p.Pro183Ser missense ACSM4 1 82196 1.2166E-5 41098 0 NA
12-7463288-T-C p.Leu189Pro missense ACSM4 2 82188 2.43345E-5 41094 0 NA
12-7463292-G-T p.Leu190Leu synonymous ACSM4 3 82194 3.6499E-5 41097 0 1.7632E-5
12-7463293-G-A p.Val191Met missense ACSM4 3 82198 3.64972E-5 41099 0 1.61244E-5
12-7463307-C-T p.Ser195Ser synonymous ACSM4 22 82156 2.67783E-4 41078 0 5.09587E-4
12-7463315-G-C p.Gly198Ala missense ACSM4 1 82104 1.21797E-5 41052 0 NA
12-7463324-G-T p.Ser201Ile missense ACSM4 123 82024 0.00149956 41012 0 0.00219008
12-7463330-A-G p.Gln203Arg missense ACSM4 2 81964 2.4401E-5 40982 0 1.96599E-5
12-7463343-G-A c.620+1G>A splice_donor ACSM4 1 81776 1.22285E-5 40888 0 4.10715E-6
12-7463347-G-A c.620+5G>A splice_region ACSM4 2 81702 2.44792E-5 40851 0 6.25E-4
12-7469737-G-A p.Ala209Thr missense ACSM4 32 81928 3.90587E-4 40964 0 0.0013186
12-7469743-G-GAAGAGCACAGCTGTGTGGA p.Thr218fs frameshift ACSM4 1 82008 1.21939E-5 41004 0 NA
12-7469745-A-G p.Glu211Glu synonymous ACSM4 6 82024 7.31493E-5 41012 0 6.37064E-5
12-7469753-G-C p.Ser214Thr missense ACSM4 14 82076 1.70574E-4 41038 0 3.82166E-4
12-7469759-T-TGGAAACA p.Ser220fs frameshift ACSM4 1 82074 1.21841E-5 41037 0 3.18471E-5
12-7469761-G-T p.Glu217* stop_gained ACSM4 1 82078 1.21835E-5 41039 0 4.04008E-6
12-7469775-A-G p.Gln221Gln synonymous ACSM4 1 82118 1.21776E-5 41059 0 NA
12-7469780-C-A p.Pro223Gln missense ACSM4 4 82132 4.87021E-5 41066 0 1.84874E-5
12-7469786-C-T p.Thr225Ile missense ACSM4 4 82136 4.86997E-5 41068 0 1.62046E-5
12-7469789-T-C p.Ile226Thr missense ACSM4 1 82148 1.21732E-5 41074 0 NA
12-7469792-A-G p.Tyr227Cys missense ACSM4 2 82164 2.43416E-5 41082 0 2.0107E-5
12-7469796-C-G p.Phe228Leu missense ACSM4 5 82158 6.08583E-5 41079 0 7.29091E-4
12-7469829-C-A p.Ala239Ala synonymous ACSM4 4 82060 4.87448E-5 41030 0 5.03525E-4
12-7469844-C-A p.Ser244Arg missense ACSM4 2 82002 2.43896E-5 41001 0 NA
12-7469850-C-T p.Leu246Leu synonymous ACSM4 9 81940 1.09836E-4 40970 0 1.59205E-4
12-7469851-G-A p.Gly247Ser missense ACSM4 1 81934 1.22049E-5 40967 0 4.00577E-5
12-7469858-G-A p.Gly249Glu missense ACSM4 1 81908 1.22088E-5 40954 0 NA
12-7469864-C-T p.Thr251Ile missense ACSM4 21 81876 2.56485E-4 40938 0 0.00353179
12-7469866-C-T p.Leu252Phe missense ACSM4 4 81894 4.88436E-5 40947 0 NA
12-7469868-C-T p.Leu252Leu synonymous ACSM4 1 81834 1.22199E-5 40917 0 5.63742E-5
12-7469870-G-C p.Cys253Ser missense ACSM4 3 81790 3.66793E-5 40895 0 3.18512E-5
12-7469870-GC-CT p.Cys253Ser missense ACSM4 1 81790 1.22264E-5 40895 0 NA
12-7469871-C-T p.Cys253Cys synonymous ACSM4 5 81770 6.11471E-5 40885 0 0.00125
12-7469872-G-A p.Gly254Arg missense ACSM4 6 81762 7.33837E-5 40881 0 6.36943E-5
12-7469872-G-C p.Gly254Arg missense ACSM4 1 81762 1.22306E-5 40881 0 NA
12-7469873-G-C p.Gly254Ala missense ACSM4 1 81738 1.22342E-5 40869 0 3.18512E-5
12-7469876-G-T p.Arg255Met missense+splice_region ACSM4 1 81698 1.22402E-5 40849 0 3.52808E-5
12-7469877-G-A c.764+1G>A splice_donor ACSM4 2 81664 2.44906E-5 40832 0 NA
12-7469882-G-A c.764+6G>A splice_region ACSM4 1205 81540 0.014778 40770 58 0.0288854
12-7470616-A-G c.765-6A>G splice_region ACSM4 1 82562 1.21121E-5 41281 0 NA
12-7470629-C-A p.Leu258Met missense ACSM4 1 82664 1.20972E-5 41332 0 NA
12-7470631-G-A p.Leu258Leu synonymous ACSM4 2 82682 2.41891E-5 41341 0 8.42389E-6
12-7470637-G-C p.Leu260Phe missense ACSM4 2 82712 2.41803E-5 41356 0 0.00125
12-7470640-G-A p.Lys261Lys synonymous ACSM4 1 82724 1.20884E-5 41362 0 NA
12-7470650-A-G p.Ile265Val missense ACSM4 1 82724 1.20884E-5 41362 0 NA
12-7470658-G-C p.Trp267Cys missense ACSM4 1 82756 1.20837E-5 41378 0 NA
12-7470664-G-A p.Met269Ile missense ACSM4 2 82758 2.41668E-5 41379 0 1.66517E-5
12-7470673-G-C p.Thr272Thr synonymous ACSM4 1 82748 1.20849E-5 41374 0 NA
12-7470688-C-T p.Ala277Ala synonymous ACSM4 99 82744 0.00119646 41372 1 0.0025164
12-7470689-G-A p.Ala278Thr missense ACSM4 1 82746 1.20852E-5 41373 0 2.40939E-5
12-7470713-T-C p.Trp286Arg missense ACSM4 1 82760 1.20831E-5 41380 0 NA
12-7470725-G-A p.Ala290Thr missense ACSM4 1 82756 1.20837E-5 41378 0 NA
12-7470727-C-T p.Ala290Ala synonymous ACSM4 4 82748 4.83395E-5 41374 0 1.64603E-4
12-7470743-C-G p.Arg296Gly missense ACSM4 1 82718 1.20893E-5 41359 0 8.03232E-6
12-7470744-G-A p.Arg296Gln missense ACSM4 8 82714 9.67188E-5 41357 0 7.87218E-4
12-7470749-G-T p.Ala298Ser missense ACSM4 21 82720 2.53868E-4 41360 0 8.59927E-4
12-7470749-GCA-G p.Gln299fs frameshift ACSM4 11 82720 1.32979E-4 41360 0 1.32608E-4
12-7470779-G-A c.921+1G>A splice_donor ACSM4 5 82582 6.05459E-5 41291 0 1.61014E-5
12-7473328-C-T p.Thr310Ile missense ACSM4 1 81894 1.22109E-5 40947 0 NA
12-7473335-T-C p.Tyr312Tyr synonymous ACSM4 1 81938 1.22043E-5 40969 0 NA
12-7473339-A-G p.Ile314Val missense ACSM4 2 81972 2.43986E-5 40986 0 NA
12-7473343-C-T p.Thr315Met missense ACSM4 2 81990 2.43932E-5 40995 0 1.60741E-5
12-7473347-C-T p.Thr316Thr synonymous ACSM4 1 82028 1.2191E-5 41014 0 8.3956E-6
12-7473355-G-A p.Ser319Asn missense ACSM4 1 82056 1.21868E-5 41028 0 8.38617E-6
12-7473360-C-A p.Pro321Thr missense ACSM4 5 82046 6.09414E-5 41023 0 6.71366E-5
12-7473372-C-T p.Arg325Trp missense ACSM4 1 81986 1.21972E-5 40993 0 2.41158E-5
12-7473373-G-A p.Arg325Gln missense ACSM4 1 81994 1.2196E-5 40997 0 NA
12-7473377-G-A p.Met326Ile missense ACSM4 3 81978 3.65952E-5 40989 0 2.53962E-5
12-7473381-G-A p.Val328Met missense ACSM4 4 81924 4.88257E-5 40962 0 5.22815E-5
12-7473403-A-G c.1001+3A>G splice_region ACSM4 3 81704 3.67179E-5 40852 0 4.43427E-5
12-7473408-G-A c.1001+8G>A splice_region ACSM4 1 81606 1.2254E-5 40803 0 NA
12-7475010-C-G c.1002-4C>G splice_region ACSM4 5 81726 6.118E-5 40863 0 NA
12-7475016-A-G p.Tyr335Cys missense+splice_region ACSM4 1 81910 1.22085E-5 40955 0 4.01984E-6
12-7475033-C-T p.Arg341Trp missense ACSM4 1 82072 1.21844E-5 41036 0 1.28645E-4
12-7475034-G-A p.Arg341Gln missense ACSM4 3 82096 3.65426E-5 41048 0 1.32668E-4
12-7475044-G-A p.Leu344Leu synonymous ACSM4 1 82114 1.21782E-5 41057 0 NA
12-7475046-C-T p.Thr345Ile missense ACSM4 1 82108 1.21791E-5 41054 0 3.18492E-5
12-7475047-C-T p.Thr345Thr synonymous ACSM4 3 82100 3.65408E-5 41050 0 5.22706E-5
12-7475048-G-A p.Gly346Arg missense ACSM4 4 82130 4.87033E-5 41065 0 3.18552E-5
12-7475049-G-A p.Gly346Glu missense ACSM4 1 82146 1.21734E-5 41073 0 4.0201E-6
12-7475050-A-G p.Gly346Gly synonymous ACSM4 1 82144 1.21737E-5 41072 0 4.02023E-6
12-7475062-C-T p.Leu350Leu synonymous ACSM4 1 82202 1.21652E-5 41101 0 NA
12-7475078-G-C p.Glu356Gln missense ACSM4 3 82212 3.6491E-5 41106 0 NA
12-7475081-C-T p.Gln357* stop_gained ACSM4 4515 82108 0.0549886 41054 167 0.07125
12-7475083-G-A p.Gln357Gln synonymous ACSM4 3 82240 3.64786E-5 41120 0 NA
12-7475086-G-C p.Trp358Cys missense ACSM4 1 82248 1.21584E-5 41124 0 8.29504E-6
12-7475087-A-T p.Arg359Trp missense ACSM4 1 82250 1.21581E-5 41125 0 NA
12-7475089-G-A p.Arg359Arg synonymous ACSM4 1 82268 1.21554E-5 41134 0 3.18532E-5
12-7475108-C-T p.Leu366Leu synonymous ACSM4 1 82358 1.21421E-5 41179 0 8.30496E-6
12-7475117-G-A p.Gly369Ser missense ACSM4 2 82354 2.42854E-5 41177 0 4.0245E-6
12-7475130-C-T p.Thr373Met missense ACSM4 9 82334 1.09311E-4 41167 0 2.34088E-4
12-7475130-C-G p.Thr373Arg missense ACSM4 1 82334 1.21457E-5 41167 0 3.18593E-5
12-7475832-A-C p.Gly376Gly splice_region+synonymous ACSM4 3 82190 3.65008E-5 41095 0 2.09459E-5
12-7475833-A-G p.Met377Val missense ACSM4 1 82200 1.21655E-5 41100 0 1.48377E-5
12-7475848-C-T p.Gln382* stop_gained ACSM4 5 82352 6.0715E-5 41176 0 6.37267E-5
12-7475873-G-T p.Gly390Val missense ACSM4 2 82496 2.42436E-5 41248 0 1.12859E-5
12-7475873-G-A p.Gly390Asp missense ACSM4 1 82496 1.21218E-5 41248 0 8.1722E-6
12-7475874-T-A p.Gly390Gly synonymous ACSM4 1 82506 1.21203E-5 41253 0 NA
12-7475881-G-C p.Gly393Arg missense ACSM4 1 82508 1.212E-5 41254 0 NA
12-7475885-A-G p.Lys394Arg missense ACSM4 1 82504 1.21206E-5 41252 0 4.09199E-6
12-7475895-G-T p.Leu397Leu synonymous ACSM4 1 82520 1.21183E-5 41260 0 3.32373E-5
12-7475896-C-T p.Pro398Ser missense ACSM4 4 82516 4.84754E-5 41258 0 3.3188E-5
12-7475900-A-G p.Tyr399Cys missense ACSM4 1 82520 1.21183E-5 41260 0 NA
12-7475901-T-C p.Tyr399Tyr synonymous ACSM4 7 82522 8.48259E-5 41261 0 3.2023E-4
12-7475918-G-A c.1206+8G>A splice_region ACSM4 2 82482 2.42477E-5 41241 0 4.16077E-6
12-7476053-A-G c.1207-2A>G splice_acceptor ACSM4 5 81982 6.0989E-5 40991 0 4.02547E-6
12-7476061-G-C p.Asp405His missense ACSM4 11 82004 1.3414E-4 41002 0 0.00100705
12-7476063-T-C p.Asp405Asp synonymous ACSM4 2 81976 2.43974E-5 40988 0 3.18512E-5
12-7476064-G-A p.Glu406Lys missense ACSM4 1 81974 1.2199E-5 40987 0 NA
12-7476073-A-C p.Asn409His missense ACSM4 3 81996 3.65871E-5 40998 0 5.00242E-5
12-7476088-G-A p.Gly414Ser missense ACSM4 1 82020 1.21921E-5 41010 0 NA
12-7476106-G-A p.Ala420Thr missense ACSM4 1 81998 1.21954E-5 40999 0 NA
12-7476119-A-T p.Lys424Ile missense ACSM4 1 82000 1.21951E-5 41000 0 NA
12-7476122-C-A p.Pro425His missense ACSM4 2 81988 2.43938E-5 40994 0 2.50054E-5
12-7476127-C-A p.Arg427Arg synonymous ACSM4 822 81978 0.0100271 40989 4 0.00906344
12-7476127-C-T p.Arg427Trp missense ACSM4 9 81994 1.09764E-4 40997 0 1.1263E-4
12-7476128-G-A p.Arg427Gln missense ACSM4 4 81976 4.87948E-5 40988 0 2.41346E-5
12-7476131-C-T p.Pro428Leu missense ACSM4 1 81942 1.22038E-5 40971 0 8.35785E-6
12-7476137-G-T p.Cys430Phe missense ACSM4 1 81930 1.22055E-5 40965 0 NA
12-7476145-T-G p.Ser433Ala missense ACSM4 33 81854 4.03157E-4 40927 0 0.00136841
12-7476153-T-C p.Tyr435Tyr synonymous ACSM4 218 81858 0.00266315 40929 0 0.00340743
12-7476158-T-A c.1308+2T>A splice_donor ACSM4 2 81790 2.44529E-5 40895 0 3.18471E-5
12-7476164-G-A c.1308+8G>A splice_region ACSM4 1 81728 1.22357E-5 40864 0 8.62753E-6
12-7476876-C-T p.Pro439Leu missense ACSM4 1 82218 1.21628E-5 41109 0 NA
12-7476878-C-T p.Gln440* stop_gained ACSM4 2 82270 2.43102E-5 41135 0 1.21219E-5
12-7476892-C-T p.Ala444Ala synonymous ACSM4 2 82512 2.42389E-5 41256 0 NA
12-7476894-C-T p.Thr445Met missense ACSM4 32 82552 3.87634E-4 41276 0 0.00100806
12-7476909-T-C p.Phe450Ser missense ACSM4 2 82700 2.41838E-5 41350 0 NA
12-7476934-G-A p.Val458Val synonymous ACSM4 1 82850 1.207E-5 41425 0 NA
12-7476936-T-C p.Met459Thr missense ACSM4 1 82848 1.20703E-5 41424 0 8.35087E-6
12-7476963-T-A p.Val468Asp missense ACSM4 1 82920 1.20598E-5 41460 0 3.18431E-5
12-7476984-T-G p.Ile475Ser missense ACSM4 2 82932 2.41161E-5 41466 0 NA
12-7476992-T-G p.Ser478Ala missense ACSM4 2 82952 2.41103E-5 41476 0 3.9992E-6
12-7477099-C-G p.Arg481Gly missense ACSM4 1 82846 1.20706E-5 41423 0 4.01297E-6
12-7477100-G-A p.Arg481His missense ACSM4 1242 82836 0.0149935 41418 65 0.0287162
12-7477114-G-A p.Glu486Lys missense ACSM4 1 82836 1.2072E-5 41418 0 1.20373E-5
12-7477117-G-T p.Val487Leu missense ACSM4 1 82838 1.20718E-5 41419 0 1.60488E-5
12-7477122-G-A p.Glu488Glu synonymous ACSM4 1 82844 1.20709E-5 41422 0 3.20978E-5
12-7477122-G-T p.Glu488Asp missense ACSM4 2 82844 2.41418E-5 41422 0 1.65722E-5
12-7477131-C-T p.Leu491Leu synonymous ACSM4 1 82844 1.20709E-5 41422 0 NA
12-7477133-T-C p.Ile492Thr missense ACSM4 2 82842 2.41423E-5 41421 0 2.80879E-5
12-7477158-G-A p.Ser500Ser synonymous ACSM4 2 82810 2.41517E-5 41405 0 6.37267E-5
12-7477180-C-T p.Gln508* stop_gained ACSM4 3 82750 3.62538E-5 41375 0 6.25E-4
12-7477186-C-T p.Arg510Cys missense ACSM4 7 82732 8.46105E-5 41366 0 1.41403E-4
12-7477187-G-A p.Arg510His missense ACSM4 1 82722 1.20887E-5 41361 0 8.32251E-6
12-7477188-C-T p.Arg510Arg synonymous ACSM4 1 82722 1.20887E-5 41361 0 1.66525E-5
12-7477189-G-A p.Gly511Arg missense ACSM4 3 82722 3.6266E-5 41361 0 0.00125
12-7479565-G-C c.1537-7G>C splice_region ACSM4 1 82316 1.21483E-5 41158 0 4.513E-6
12-7479580-A-G p.Lys515Lys synonymous ACSM4 1 82354 1.21427E-5 41177 0 NA
12-7479585-T-C p.Phe517Ser missense ACSM4 1 82380 1.21389E-5 41190 0 NA
12-7479600-C-A p.Ala522Glu missense ACSM4 3 82414 3.64016E-5 41207 0 1.77635E-4
12-7479602-C-T p.Pro523Ser missense ACSM4 1 82402 1.21356E-5 41201 0 NA
12-7479603-C-G p.Pro523Arg missense ACSM4 1 82408 1.21347E-5 41204 0 NA
12-7479604-C-G p.Pro523Pro synonymous ACSM4 1 82406 1.2135E-5 41203 0 NA
12-7479604-C-T p.Pro523Pro synonymous ACSM4 4 82406 4.85402E-5 41203 0 NA
12-7479607-T-G p.Phe524Leu missense ACSM4 1 82410 1.21345E-5 41205 0 4.04937E-6
12-7479618-A-G p.Asn528Ser missense ACSM4 1 82434 1.21309E-5 41217 0 NA
12-7479627-A-T p.Lys531Ile missense ACSM4 1 82430 1.21315E-5 41215 0 1.00916E-5
12-7479630-T-C p.Leu532Ser missense ACSM4 3 82434 3.63928E-5 41217 0 1.91034E-4
12-7479647-G-C p.Asp538His missense ACSM4 1 82416 1.21336E-5 41208 0 NA
12-7479655-G-GA p.Ser543fs frameshift ACSM4 1 82402 1.21356E-5 41201 0 1.15276E-5
12-7479692-G-T c.1656+1G>T splice_donor ACSM4 1 82294 1.21516E-5 41147 0 NA
12-7479696-G-A c.1656+5G>A splice_region ACSM4 11 82288 1.33677E-4 41144 0 1.30438E-4
12-7480882-G-A c.1657-1G>A splice_acceptor ACSM4 1 81564 1.22603E-5 40782 0 NA
12-7480909-G-T p.Lys561Asn missense ACSM4 1 81850 1.22175E-5 40925 0 NA
12-7480915-C-T p.Ile563Ile synonymous ACSM4 5 81846 6.10903E-5 40923 0 2.04183E-4
12-7480917-C-T p.Thr564Ile missense ACSM4 3 81838 3.66578E-5 40919 0 NA
12-7480918-T-A p.Thr564Thr synonymous ACSM4 659 81844 0.0080519 40922 6 0.0154297
12-7480925-A-C p.Ile567Leu missense ACSM4 1 81868 1.22148E-5 40934 0 NA
12-7480931-C-T p.Arg569Cys missense ACSM4 50 81862 6.10784E-4 40931 0 9.13163E-4
12-7480932-G-A p.Arg569His missense ACSM4 7 81838 8.55348E-5 40919 0 5.03525E-4
12-7480936-C-G p.Asn570Lys missense ACSM4 13 81830 1.58866E-4 40915 0 5.03525E-4
12-7480936-C-T p.Asn570Asn synonymous ACSM4 2 81830 2.44409E-5 40915 0 2.22987E-4
12-7480937-G-A p.Val571Ile missense ACSM4 1 81824 1.22214E-5 40912 0 0.00100705
12-7480947-A-G p.Asp574Gly missense ACSM4 1 81816 1.22225E-5 40908 0 NA
12-7480951-A-G p.Gln575Gln synonymous ACSM4 1 81778 1.22282E-5 40889 0 NA
12-7480967-T-C p.Ter581Glnext*? stop_lost ACSM4 3 81552 3.67863E-5 40776 0 9.64627E-6