Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-75519924-T-C c.*223A>G splice_region ACYP1 6 33020 1.81708E-4 16510 0 NA
14-75520153-T-C p.Val98Val synonymous ACYP1 2 83320 2.40038E-5 41660 0 NA
14-75520195-T-C p.Glu84Glu synonymous ACYP1 2 83392 2.39831E-5 41696 0 NA
14-75520206-A-G p.Phe81Leu missense ACYP1 1 83396 1.1991E-5 41698 0 NA
14-75520218-C-T p.Asp77Asn missense ACYP1 3 83404 3.59695E-5 41702 0 3.18532E-5
14-75520234-ACTT-A p.Ser71del disruptive_inframe_deletion ACYP1 1 83408 1.19893E-5 41704 0 3.18634E-5
14-75520237-T-G p.Gly70Gly synonymous ACYP1 1 83414 1.19884E-5 41707 0 1.64728E-5
14-75520241-C-T p.Arg69Lys missense ACYP1 1 83412 1.19887E-5 41706 0 8.23642E-6
14-75520251-G-A p.Leu66Phe missense ACYP1 1 83416 1.19881E-5 41708 0 3.57861E-5
14-75520272-C-G p.Val59Leu missense ACYP1 1 83422 1.19872E-5 41711 0 3.97624E-6
14-75520273-CT-AC p.Lys58Ser missense ACYP1 1 83420 1.19875E-5 41710 0 NA
14-75520282-G-T p.Pro55Pro synonymous ACYP1 1 83420 1.19875E-5 41710 0 NA
14-75520283-G-A p.Pro55Leu missense ACYP1 1 83420 1.19875E-5 41710 0 3.29457E-5
14-75520313-C-T p.Arg45Gln missense ACYP1 3 83408 3.59678E-5 41704 0 2.47093E-5
14-75520314-G-T p.Arg45Arg synonymous ACYP1 1 83410 1.1989E-5 41705 0 1.19292E-5
14-75520314-G-A p.Arg45Trp missense ACYP1 1 83410 1.1989E-5 41705 0 1.64728E-5
14-75520353-T-A p.Lys32* stop_gained ACYP1 1 83364 1.19956E-5 41682 0 3.97735E-6
14-75520354-A-C p.Gly31Gly synonymous ACYP1 1 83354 1.1997E-5 41677 0 NA
14-75520358-T-G p.Ter56Cysext*? stop_lost ACYP1 4 83348 4.79916E-5 41674 0 6.37308E-5
14-75520360-A-G p.Ter56Argext*? stop_lost ACYP1 1 83346 1.19982E-5 41673 0 3.29609E-5
14-75520366-AG-A c.85-5delC splice_region ACYP1 1 83312 1.20031E-5 41656 0 8.24525E-6
14-75520369-G-C c.85-7C>G splice_region ACYP1 1 83286 1.20068E-5 41643 0 NA
14-75528398-G-A p.Thr51Ile missense ACYP1 4 82400 4.85437E-5 41200 0 1.59276E-4
14-75528412-T-G p.Pro46Pro synonymous ACYP1 128 82488 0.00155174 41244 0 0.00172301
14-75528416-A-T p.Val45Asp missense ACYP1 2 82492 2.42448E-5 41246 0 NA
14-75528434-G-A p.Thr39Ile missense ACYP1 12 82468 1.45511E-4 41234 0 5.09554E-4
14-75528437-T-G p.Glu38Ala missense ACYP1 1 82460 1.21271E-5 41230 0 2.05175E-5
14-75528453-C-T p.Glu33Lys missense ACYP1 1 82174 1.21693E-5 41087 0 6.56268E-5
14-75528456-C-T p.Val32Ile missense ACYP1 1 82110 1.21788E-5 41055 0 NA
14-75530147-C-G p.Trp37Ser missense ACYP1 2 83218 2.40333E-5 41609 0 9.21795E-6
14-75530151-C-A p.Gly36Trp missense ACYP1 1 83262 1.20103E-5 41631 0 NA
14-75530152-CA-C p.Leu35fs frameshift ACYP1 4 83258 4.80434E-5 41629 0 6.36862E-5
14-75530159-T-C p.Gln33Arg missense ACYP1 2 83304 2.40085E-5 41652 0 NA
14-75530167-A-C p.Cys30Trp missense ACYP1 646 83300 0.0077551 41650 9 0.0102249
14-75530172-C-T c.84+1G>A splice_donor ACYP1 1 83338 1.19993E-5 41669 0 NA
14-75530176-A-T p.Thr27Thr synonymous ACYP1 3 83350 3.59928E-5 41675 0 6.25E-4
14-75530181-G-A p.His26Tyr missense ACYP1 1 83358 1.19964E-5 41679 0 NA
14-75530188-G-T p.Phe23Leu missense ACYP1 1 83366 1.19953E-5 41683 0 6.37511E-5
14-75530191-A-G p.Phe22Phe synonymous ACYP1 1 83374 1.19941E-5 41687 0 NA
14-75530194-C-T p.Val21Val synonymous ACYP1 8 83364 9.59647E-5 41682 0 3.1888E-5
14-75530196-C-A p.Val21Leu missense ACYP1 1 83370 1.19947E-5 41685 0 3.98549E-6
14-75530212-A-C p.Phe15Leu missense ACYP1 3 83372 3.59833E-5 41686 0 1.69941E-5
14-75530226-C-A p.Asp11Tyr missense ACYP1 1 83366 1.19953E-5 41683 0 NA
14-75530233-T-C p.Ile8Met missense ACYP1 2 83366 2.39906E-5 41683 0 3.18593E-5
14-75530246-C-T p.Gly4Glu missense ACYP1 59 83336 7.07977E-4 41668 0 0.003125
14-75530264-C-T p.Gly28Asp missense+splice_region ACYP1 1 83276 1.20083E-5 41638 0 2.00446E-5
14-75530676-G-A c.-28C>T 5_prime_UTR_premature_start_codon_gain ACYP1 1 27324 3.65979E-5 13662 0 NA
14-75530684-G-A c.-36C>T 5_prime_UTR_premature_start_codon_gain ACYP1 1 27330 3.65898E-5 13665 0 3.18593E-5
14-75530690-C-G c.-42G>C 5_prime_UTR_premature_start_codon_gain ACYP1 2 27322 7.32011E-5 13661 0 NA
14-75530694-G-A c.-46C>T 5_prime_UTR_premature_start_codon_gain ACYP1 414 27296 0.0151671 13648 4 0.00395257
14-75535915-G-A p.Pro27Leu missense+splice_region ACYP1 1 32526 3.07446E-5 16263 0 3.18715E-5
14-75535921-C-A p.Arg25Leu missense ACYP1 1 32520 3.07503E-5 16260 0 NA
14-75535922-G-A p.Arg25Trp missense ACYP1 1 32508 3.07617E-5 16254 0 9.65065E-5
14-75535923-C-T p.Gly24Gly synonymous ACYP1 1 32510 3.07598E-5 16255 0 9.58957E-6
14-75535924-C-T p.Gly24Glu missense ACYP1 1 32506 3.07636E-5 16253 0 NA
14-75535927-G-A p.Ala23Val missense ACYP1 13823 32428 0.426267 16214 3115 0.467779
14-75535931-A-T p.Cys22Ser missense ACYP1 2 32518 6.15044E-5 16259 0 NA
14-75535957-A-G p.Leu13Pro missense ACYP1 3 32468 9.23987E-5 16234 0 6.0525E-4
14-75535960-A-T p.Leu12Gln missense ACYP1 1 32452 3.08147E-5 16226 0 NA
14-75535964-C-T p.Gly11Arg missense ACYP1 1 32442 3.08242E-5 16221 0 NA
14-75535973-C-T p.Ala8Thr missense ACYP1 2 32370 6.17856E-5 16185 0 4.37537E-4
14-75535977-G-C p.Arg6Arg synonymous ACYP1 1 32340 3.09215E-5 16170 0 NA
14-75535982-C-T p.Ala5Thr missense ACYP1 9 32300 2.78638E-4 16150 0 0.00751366
14-75535984-G-C p.Ser4Cys missense ACYP1 1 32278 3.09809E-5 16139 0 2.3084E-4
14-75535987-G-T p.Ala3Glu missense ACYP1 1 32244 3.10135E-5 16122 0 NA
14-75535989-C-T p.Pro2Pro synonymous ACYP1 1 32234 3.10231E-5 16117 0 2.72242E-5
14-75535990-G-C p.Pro2Arg missense ACYP1 15 32226 4.65463E-4 16113 0 1.6225E-4
14-75536000-G-A c.-6C>T 5_prime_UTR_premature_start_codon_gain ACYP1 1 32176 3.10791E-5 16088 0 NA
14-75536165-C-A c.-171G>T 5_prime_UTR_premature_start_codon_gain ACYP1 2 20564 9.72573E-5 10282 0 NA