Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-229566998-C-T c.*248G>A splice_region ACTA1 219 64946 0.00337203 32473 1 9.54927E-4
1-229567251-A-G p.Phe289Leu missense ACTA1 1 83248 1.20123E-5 41624 0 NA
1-229567255-T-C p.Lys287Lys synonymous ACTA1 10 83244 1.20129E-4 41622 0 4.14779E-4
1-229567280-G-A p.Ala279Val missense ACTA1 1 83240 1.20135E-5 41620 0 3.97636E-6
1-229567280-G-T p.Ala279Asp missense ACTA1 1 83240 1.20135E-5 41620 0 NA
1-229567287-C-G p.Asp277His missense ACTA1 1 83232 1.20146E-5 41616 0 NA
1-229567315-C-T p.Gln267Gln synonymous ACTA1 4 83210 4.80711E-5 41605 0 6.37511E-5
1-229567330-C-A p.Ser262Ser synonymous ACTA1 2 83024 2.40894E-5 41512 0 8.24049E-6
1-229567348-G-T p.Gly256Gly synonymous ACTA1 1 83152 1.20262E-5 41576 0 1.59105E-5
1-229567360-C-A p.Ser252Ser synonymous ACTA1 1 83212 1.20175E-5 41606 0 8.2409E-6
1-229567378-C-A p.Pro246Pro synonymous ACTA1 2 83106 2.40657E-5 41553 0 8.24103E-6
1-229567384-G-T p.Ile244Ile synonymous ACTA1 670 83074 0.0080651 41537 12 0.0171478
1-229567460-C-T c.726+8G>A splice_region ACTA1 1 82786 1.20793E-5 41393 0 3.9794E-6
1-229567467-C-A c.726+1G>T splice_donor ACTA1 1 82812 1.20755E-5 41406 0 1.19358E-5
1-229567495-C-T p.Ala233Ala synonymous ACTA1 4 82782 4.83197E-5 41391 0 5.56881E-5
1-229567495-C-G p.Ala233Ala synonymous ACTA1 1 82782 1.20799E-5 41391 0 2.47219E-5
1-229567497-C-T p.Ala233Thr missense ACTA1 3 82784 3.62389E-5 41392 0 NA
1-229567504-C-T p.Glu230Glu synonymous ACTA1 1 82824 1.20738E-5 41412 0 NA
1-229567524-C-A p.Ala224Ser missense ACTA1 1 82680 1.20948E-5 41340 0 NA
1-229567531-A-AG p.Gly222fs frameshift ACTA1 1 82678 1.20951E-5 41339 0 NA
1-229567543-G-T p.Thr217Thr synonymous ACTA1 1 82516 1.21189E-5 41258 0 NA
1-229567546-GC-G p.Gly216fs frameshift ACTA1 1 82494 1.21221E-5 41247 0 NA
1-229567552-C-T p.Ser214Ser synonymous ACTA1 1 82474 1.2125E-5 41237 0 8.24008E-5
1-229567582-C-T p.Arg204Arg synonymous ACTA1 1 81822 1.22217E-5 40911 0 NA
1-229567591-G-A p.Ile201Ile synonymous ACTA1 6 81342 7.37626E-5 40671 0 1.5949E-4
1-229567613-T-C p.Asn194Ser missense ACTA1 1 80334 1.2448E-5 40167 0 NA
1-229567622-G-T p.Thr191Asn missense ACTA1 2 79712 2.50903E-5 39856 0 8.25805E-6
1-229567657-C-G c.545-8G>C splice_region ACTA1 2 77802 2.57063E-5 38901 0 NA
1-229567657-C-T c.545-8G>A splice_region ACTA1 1 77802 1.28531E-5 38901 0 NA
1-229567739-A-AC c.544+1_544+2insG splice_donor ACTA1 1 79092 1.26435E-5 39546 0 NA
1-229567744-T-C p.Ile181Val missense ACTA1 3 79724 3.76298E-5 39862 0 3.21048E-5
1-229567763-C-G p.Thr174Thr synonymous ACTA1 44 81042 5.42928E-4 40521 0 0.00124664
1-229567775-G-A p.Arg170Arg synonymous ACTA1 1 81532 1.22651E-5 40766 0 8.93336E-6
1-229567786-C-A p.Glu167* stop_gained ACTA1 1 81888 1.22118E-5 40944 0 NA
1-229567793-G-C p.Ile164Met missense ACTA1 1 82104 1.21797E-5 41052 0 NA
1-229567808-C-T p.Gly159Gly synonymous ACTA1 2 82330 2.42925E-5 41165 0 NA
1-229567816-G-A p.Pro157Ser missense ACTA1 1 82368 1.21406E-5 41184 0 7.99322E-6
1-229567823-G-A p.Tyr154Tyr synonymous ACTA1 2 82402 2.42713E-5 41201 0 NA
1-229567826-G-A p.Ser153Ser synonymous ACTA1 8 82476 9.69979E-5 41238 0 4.24319E-5
1-229567837-GGGA-G p.Ser149del conservative_inframe_deletion ACTA1 1 82438 1.21303E-5 41219 0 8.48464E-5
1-229567880-C-T p.Leu135Leu synonymous ACTA1 3 82160 3.65141E-5 41080 0 NA
1-229567916-C-T p.Val123Val synonymous ACTA1 1 81052 1.23378E-5 40526 0 3.9939E-6
1-229567933-C-T c.353-1G>A splice_acceptor ACTA1 1 80566 1.24122E-5 40283 0 NA
1-229567936-C-T c.353-4G>A splice_region ACTA1 1 80382 1.24406E-5 40191 0 8.5131E-6
1-229567937-G-A c.353-5C>T splice_region ACTA1 172 80358 0.00214042 40179 2 0.00328968
1-229568013-G-C c.616+4C>G splice_region ACTA1 5 80980 6.17436E-5 40490 0 3.19142E-4
1-229568030-G-A p.Ser201Ser synonymous ACTA1 1 81636 1.22495E-5 40818 0 0.00125
1-229568045-A-G p.Thr196Thr synonymous ACTA1 3 81862 3.6647E-5 40931 0 3.19142E-5
1-229568078-G-A p.Arg185Arg synonymous ACTA1 2 81848 2.44355E-5 40924 0 6.3931E-5
1-229568081-GC-G p.Gly184fs frameshift ACTA1 1 81848 1.22178E-5 40924 0 NA
1-229568084-C-T p.Ala183Ala synonymous ACTA1 25 82040 3.04729E-4 41020 1 7.82716E-4
1-229568087-C-T p.Leu182Leu synonymous ACTA1 9 82078 1.09652E-4 41039 0 1.91278E-4
1-229568093-C-T p.Leu180Leu synonymous ACTA1 1 82060 1.21862E-5 41030 0 NA
1-229568105-G-A p.Ala176Ala synonymous ACTA1 1 82036 1.21898E-5 41018 0 3.99364E-6
1-229568171-C-A p.Val154Val synonymous ACTA1 4 80364 4.97735E-5 40182 0 6.41643E-5
1-229568173-C-A p.Val154Leu missense ACTA1 1 80176 1.24726E-5 40088 0 3.21151E-5
1-229568174-G-T p.Ile153Ile synonymous ACTA1 1 80162 1.24747E-5 40081 0 3.21069E-5
1-229568186-C-T c.455-8G>A splice_region ACTA1 1 78760 1.26968E-5 39380 0 4.12674E-6
1-229568298-C-T c.454+5G>A splice_region ACTA1 1 76036 1.31517E-5 38018 0 8.19954E-6
1-229568300-C-A c.454+3G>T splice_region ACTA1 4 76700 5.21512E-5 38350 0 6.44496E-5
1-229568304-G-T p.Thr151Thr splice_region+synonymous ACTA1 304 77566 0.00391924 38783 4 0.00904351
1-229568304-G-A p.Thr151Thr splice_region+synonymous ACTA1 1 77622 1.28829E-5 38811 0 4.05578E-6
1-229568320-GC-G p.Ala146fs frameshift ACTA1 3 80160 3.74252E-5 40080 0 3.19693E-5
1-229568322-G-A p.Tyr145Tyr synonymous ACTA1 2 80364 2.48868E-5 40182 0 8.55652E-6
1-229568334-C-T p.Val141Val synonymous ACTA1 7 81286 8.61157E-5 40643 0 0.0025355
1-229568351-C-A p.Val136Leu missense ACTA1 2 81998 2.43908E-5 40999 0 NA
1-229568353-T-C p.Tyr135Cys missense ACTA1 1 82088 1.2182E-5 41044 0 NA
1-229568361-G-A p.Pro132Pro synonymous ACTA1 2 82276 2.43084E-5 41138 0 8.35562E-6
1-229568362-G-A p.Pro132Leu missense ACTA1 1 82312 1.21489E-5 41156 0 NA
1-229568363-G-A p.Pro132Ser missense ACTA1 2 82318 2.4296E-5 41159 0 3.9821E-6
1-229568365-A-G p.Val131Ala missense ACTA1 2 82340 2.42895E-5 41170 0 NA
1-229568367-G-A p.Asn130Asn synonymous ACTA1 1 82392 1.21371E-5 41196 0 NA
1-229568368-T-C p.Asn130Ser missense ACTA1 4 82440 4.85201E-5 41220 0 6.39141E-5
1-229568385-G-A p.Ile124Ile synonymous ACTA1 2 82766 2.41645E-5 41383 0 NA
1-229568423-G-A p.Leu112Phe missense ACTA1 1 82910 1.20613E-5 41455 0 3.97817E-6
1-229568427-G-T p.Ala110Ala synonymous ACTA1 1 82902 1.20624E-5 41451 0 3.97766E-6
1-229568428-G-A p.Ala110Val missense ACTA1 1 82864 1.2068E-5 41432 0 NA
1-229568430-C-T p.Glu109Glu synonymous ACTA1 1 82880 1.20656E-5 41440 0 7.95545E-6
1-229568433-G-T p.Thr108Thr synonymous ACTA1 18 82890 2.17155E-4 41445 0 1.27567E-4
1-229568445-G-C p.Pro104Pro synonymous ACTA1 2 82900 2.41255E-5 41450 0 NA
1-229568463-C-T p.Val98Val synonymous ACTA1 1 82932 1.20581E-5 41466 0 3.18776E-5
1-229568465-C-A p.Val98Leu missense ACTA1 1 82928 1.20587E-5 41464 0 3.97693E-6
1-229568466-G-C p.Arg97Arg synonymous ACTA1 1 82930 1.20584E-5 41465 0 NA
1-229568466-G-T p.Arg97Arg synonymous ACTA1 1 82930 1.20584E-5 41465 0 NA
1-229568470-A-G p.Leu96Pro missense ACTA1 1 82938 1.20572E-5 41469 0 NA
1-229568470-AGC-A p.Glu95fs frameshift ACTA1 2 82938 2.41144E-5 41469 0 NA
1-229568470-A-C p.Leu96Arg missense ACTA1 2 82938 2.41144E-5 41469 0 NA
1-229568472-C-T p.Glu95Glu synonymous ACTA1 1 82942 1.20566E-5 41471 0 NA
1-229568475-G-A p.Asn94Asn synonymous ACTA1 2 82924 2.41185E-5 41462 0 6.37389E-5
1-229568511-A-G p.Asp82Asp synonymous ACTA1 4 82972 4.8209E-5 41486 0 2.3858E-5
1-229568589-C-T p.Val56Val synonymous ACTA1 2 82474 2.42501E-5 41237 0 1.64891E-5
1-229568592-G-A p.Tyr55Tyr synonymous ACTA1 2 82414 2.42677E-5 41207 0 1.64902E-5
1-229568616-G-T p.Val47Val synonymous ACTA1 1 81556 1.22615E-5 40778 0 2.0639E-4
1-229568625-G-A p.Gly44Gly splice_region+synonymous ACTA1 70 81022 8.63963E-4 40511 1 9.17234E-5
1-229568625-G-T p.Gly44Gly splice_region+synonymous ACTA1 1 81028 1.23414E-5 40514 0 NA
1-229568631-CA-TG c.130-5_130-4delTGinsCA splice_region ACTA1 4 80816 4.94951E-5 40408 0 NA
1-229568631-C-T c.130-4G>A splice_region ACTA1 1 80816 1.23738E-5 40408 0 3.98823E-6
1-229568632-A-G c.130-5T>C splice_region ACTA1 19383 80126 0.241906 40063 2685 0.249089
1-229568728-C-T c.129+6G>A splice_region ACTA1 1 79502 1.25783E-5 39751 0 NA
1-229568742-G-T p.Arg41Arg synonymous ACTA1 1 79930 1.25109E-5 39965 0 NA
1-229568746-G-A p.Arg39Arg synonymous ACTA1 2 79972 2.50088E-5 39986 0 1.91156E-4
1-229568755-G-A p.Ile36Ile synonymous ACTA1 13 80528 1.61435E-4 40264 0 5.03525E-4
1-229568761-C-T p.Pro34Pro synonymous ACTA1 1 80808 1.2375E-5 40404 0 1.6967E-5
1-229568785-A-G p.Asp26Asp synonymous ACTA1 1 81722 1.22366E-5 40861 0 NA
1-229568791-G-C p.Ala24Ala synonymous ACTA1 1 81920 1.2207E-5 40960 0 3.99182E-6
1-229568794-G-A p.Phe23Phe synonymous ACTA1 1 81952 1.22023E-5 40976 0 3.98909E-6
1-229568809-C-T p.Leu18Leu synonymous ACTA1 1 82360 1.21418E-5 41180 0 NA
1-229568815-G-A p.Ser16Ser synonymous ACTA1 3 82408 3.64042E-5 41204 0 8.30965E-6
1-229568827-G-T p.Cys12* stop_gained ACTA1 1 82374 1.21398E-5 41187 0 NA
1-229568839-G-T p.Thr8Thr synonymous ACTA1 7 82294 8.50609E-5 41147 0 4.97479E-5
1-229568839-G-A p.Thr8Thr synonymous ACTA1 1 82292 1.21518E-5 41146 0 1.59253E-5
1-229568848-G-A p.Asp5Asp synonymous ACTA1 1 82134 1.21752E-5 41067 0 3.98156E-6
1-229568881-G-C c.-12-7C>G splice_region ACTA1 1 80406 1.24369E-5 40203 0 NA