Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-53450990-CAG-C c.*11_*12delCT splice_region FAM150A 1 82914 1.20607E-5 41457 0 1.22429E-5
8-53450993-G-A c.*10C>T splice_region FAM150A 3 82976 3.6155E-5 41488 0 NA
8-53451032-C-T p.Ala121Thr missense FAM150A 1 83094 1.20346E-5 41547 0 5.03525E-4
8-53451034-A-G p.Leu120Ser missense FAM150A 1 83094 1.20346E-5 41547 0 NA
8-53451036-T-C p.Arg119Arg synonymous FAM150A 5 83092 6.01743E-5 41546 0 1.27389E-4
8-53451048-T-C p.Arg115Arg synonymous FAM150A 1 83044 1.20418E-5 41522 0 5.03525E-4
8-53451068-C-T c.326-1G>A splice_acceptor FAM150A 2 82942 2.41132E-5 41471 0 NA
8-53452398-C-T p.Thr106Thr synonymous FAM150A 2 83008 2.40941E-5 41504 0 6.25E-4
8-53452401-T-C p.Ser105Ser synonymous FAM150A 67 83082 8.06432E-4 41541 0 0.00123891
8-53452419-G-A p.Tyr99Tyr synonymous FAM150A 1 83224 1.20158E-5 41612 0 8.24348E-6
8-53452423-T-C p.Tyr98Cys missense FAM150A 1 83238 1.20137E-5 41619 0 NA
8-53452429-C-T p.Arg96Gln missense FAM150A 4 83258 4.80434E-5 41629 0 4.94576E-5
8-53452429-C-A p.Arg96Leu missense FAM150A 1 83258 1.20109E-5 41629 0 3.9807E-6
8-53452438-T-C p.His93Arg missense FAM150A 1 83278 1.2008E-5 41639 0 NA
8-53452443-G-A p.Ser91Ser synonymous FAM150A 1 83284 1.20071E-5 41642 0 1.98975E-5
8-53452454-G-A p.Pro88Ser missense FAM150A 1 83278 1.2008E-5 41639 0 8.25614E-6
8-53452467-C-T p.Pro83Pro synonymous FAM150A 6 83262 7.20617E-5 41631 0 1.29887E-4
8-53452468-G-A p.Pro83Leu missense FAM150A 7 83252 8.40821E-5 41626 0 5.03525E-4
8-53454947-C-T c.244+5G>A splice_region FAM150A 2 82008 2.43879E-5 41004 0 1.59541E-4
8-53454948-T-C c.244+4A>G splice_region FAM150A 1 82064 1.21856E-5 41032 0 NA
8-53454950-A-T c.244+2T>A splice_donor FAM150A 1 82042 1.21889E-5 41021 0 NA
8-53454953-T-C p.Thr81Thr splice_region+synonymous FAM150A 1 82082 1.21829E-5 41041 0 8.31698E-6
8-53454954-G-A p.Thr81Ile missense+splice_region FAM150A 1 82060 1.21862E-5 41030 0 NA
8-53454957-A-G p.Phe80Ser missense FAM150A 1 82046 1.21883E-5 41023 0 8.43014E-6
8-53454993-C-G p.Arg68Thr missense FAM150A 4 81828 4.8883E-5 40914 0 4.28335E-6
8-53455010-A-G c.191-5T>C splice_region FAM150A 1 81220 1.23122E-5 40610 0 NA
8-53477620-A-T c.190+7T>A splice_region FAM150A 1 65664 1.5229E-5 32832 0 3.55265E-5
8-53477643-G-A p.Ser58Ser synonymous FAM150A 1 69172 1.44567E-5 34586 0 NA
8-53477647-G-C p.Pro57Arg missense FAM150A 11 69834 1.57516E-4 34917 0 0.00257069
8-53477650-G-A p.Thr56Ile missense FAM150A 2 69918 2.86049E-5 34959 0 3.19407E-5
8-53477653-C-T p.Arg55Gln missense FAM150A 1 70158 1.42535E-5 35079 0 2.14326E-5
8-53477661-C-A p.Gly52Gly synonymous FAM150A 2 71072 2.81405E-5 35536 0 NA
8-53477663-C-T p.Gly52Arg missense FAM150A 1 71194 1.40461E-5 35597 0 NA
8-53477668-G-A p.Ala50Val missense FAM150A 11 71596 1.5364E-4 35798 1 NA
8-53477673-G-C p.Leu48Leu synonymous FAM150A 1 72448 1.3803E-5 36224 0 NA
8-53477675-G-A p.Leu48Phe missense FAM150A 1 72622 1.37699E-5 36311 0 3.19285E-5
8-53477676-G-A p.Phe47Phe synonymous FAM150A 1 72716 1.37521E-5 36358 0 NA
8-53477681-G-C p.Leu46Val missense FAM150A 5 73060 6.84369E-5 36530 0 3.19407E-5
8-53477681-G-A p.Leu46Phe missense FAM150A 6 73060 8.21243E-5 36530 0 3.51333E-5
8-53477694-C-T p.Glu41Glu synonymous FAM150A 1 73006 1.36975E-5 36503 0 5.24164E-5
8-53477703-C-G p.Thr38Thr synonymous FAM150A 4 73288 5.45792E-5 36644 0 0.00111111
8-53477715-TCCCCTGCGC-T p.Arg32_Gly34del disruptive_inframe_deletion FAM150A 2 72430 2.76129E-5 36215 0 NA
8-53477718-C-T p.Arg33Arg synonymous FAM150A 1 72698 1.37555E-5 36349 0 2.05584E-5
8-53477720-T-A p.Arg33Trp missense FAM150A 2 72510 2.75824E-5 36255 0 6.3955E-5
8-53477722-C-A p.Arg32Leu missense FAM150A 2 72116 2.77331E-5 36058 0 1.29578E-4
8-53477730-G-C p.Pro29Pro synonymous FAM150A 1 71884 1.39113E-5 35942 0 NA
8-53477732-G-T p.Pro29Thr missense FAM150A 1 71392 1.40072E-5 35696 0 NA
8-53477733-CCTCCCGTGGG-C p.Ala25fs frameshift FAM150A 1 71316 1.40221E-5 35658 0 NA
8-53477751-C-A p.Pro22Pro synonymous FAM150A 1 69138 1.44638E-5 34569 0 NA
8-53477753-G-A p.Pro22Ser missense FAM150A 1 69512 1.4386E-5 34756 0 3.19163E-5
8-53477761-G-C p.Ala19Gly missense FAM150A 1 67926 1.47219E-5 33963 0 NA
8-53477767-G-A p.Ala17Val missense FAM150A 5 66918 7.47183E-5 33459 0 4.99002E-4
8-53477768-C-A p.Ala17Ser missense FAM150A 1 66860 1.49566E-5 33430 0 NA
8-53477771-G-C p.Leu16Val missense FAM150A 2 66270 3.01796E-5 33135 0 4.64857E-5
8-53477778-G-A p.Leu13Leu synonymous FAM150A 16 65472 2.44379E-4 32736 0 5.73943E-4
8-53477780-G-C p.Leu13Val missense FAM150A 5 64900 7.70416E-5 32450 0 5.21376E-4
8-53477793-G-C p.Ala8Ala synonymous FAM150A 1 62648 1.59622E-5 31324 0 NA
8-53477794-G-C p.Ala8Gly missense FAM150A 1 62130 1.60953E-5 31065 0 NA
8-53477798-C-G p.Gly7Arg missense FAM150A 164 60492 0.0027111 30246 1 0.00556242
8-53477799-G-A p.Pro6Pro synonymous FAM150A 3 61530 4.87567E-5 30765 0 3.18898E-5
8-53477809-G-A p.Pro3Leu missense FAM150A 13 59870 2.17137E-4 29935 0 0.00506329
8-53477812-C-A p.Arg2Leu missense FAM150A 2 58754 3.40402E-5 29377 0 NA
8-53477815-A-AT p.Met1fs frameshift FAM150A 1 58854 1.69912E-5 29427 0 NA
8-53477816-T-C p.Met1? start_lost FAM150A 1 58744 1.7023E-5 29372 0 NA
8-53477830-G-C c.-14C>G 5_prime_UTR_premature_start_codon_gain FAM150A 5 59306 8.43085E-5 29653 0 6.37592E-5
8-53477868-G-A c.-52C>T 5_prime_UTR_premature_start_codon_gain FAM150A 1 52442 1.90687E-5 26221 0 NA
8-53477919-T-A c.-103A>T 5_prime_UTR_premature_start_codon_gain FAM150A 1 38108 2.62412E-5 19054 0 NA
8-53478041-G-A c.-225C>T 5_prime_UTR_premature_start_codon_gain FAM150A 9 11500 7.82609E-4 5750 0 3.19326E-5
8-53478047-G-A c.-231C>T 5_prime_UTR_premature_start_codon_gain FAM150A 2 10874 1.83925E-4 5437 0 7.98365E-4