Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-65613235-C-T c.-244C>T 5_prime_UTR_premature_start_codon_gain AK4 1 5530 1.80832E-4 2765 0 6.46204E-5
1-65613356-T-A n.117+8T>A splice_region AK4 1 9626 1.03885E-4 4813 0 NA
1-65613445-A-T c.-13A>T splice_region AK4 1 5288 1.89107E-4 2644 0 NA
1-65613447-G-T c.-12+1G>T splice_donor AK4 1 5278 1.89466E-4 2639 0 3.21523E-5
1-65613651-C-T c.-220C>T 5_prime_UTR_premature_start_codon_gain AK4 4 1524 0.00262467 762 0 3.19387E-4
1-65613656-C-T c.-215C>T 5_prime_UTR_premature_start_codon_gain AK4 1 1606 6.22665E-4 803 0 0.00166113
1-65613672-G-T c.-199G>T 5_prime_UTR_premature_start_codon_gain AK4 2 1880 0.00106383 940 0 NA
1-65613701-C-T c.-170C>T 5_prime_UTR_premature_start_codon_gain AK4 1 2636 3.79363E-4 1318 0 3.2E-4
1-65613893-C-T c.-198C>T 5_prime_UTR_premature_start_codon_gain AK4 1 39236 2.54868E-5 19618 0 3.19122E-5
1-65613901-C-T c.-190C>T 5_prime_UTR_premature_start_codon_gain AK4 214 40480 0.00528656 20240 0 0.0127673
1-65613956-T-C c.-130-5T>C splice_region AK4 3 52598 5.70364E-5 26299 0 NA
1-65614045-C-T c.-46C>T 5_prime_UTR_premature_start_codon_gain AK4 1 69696 1.4348E-5 34848 0 7.57633E-6
1-65614051-C-T c.-40C>T 5_prime_UTR_premature_start_codon_gain AK4 2 70370 2.84212E-5 35185 0 NA
1-65614092-T-G p.Met1? start_lost AK4 1 74582 1.34081E-5 37291 0 NA
1-65614097-T-C p.Ser3Pro missense AK4 1 74832 1.33633E-5 37416 0 NA
1-65614099-C-T p.Ser3Ser synonymous AK4 8 74918 1.06783E-4 37459 0 4.24448E-5
1-65614113-C-T p.Ala8Val missense AK4 1 75300 1.32802E-5 37650 0 NA
1-65614120-C-A p.Ile10Ile synonymous AK4 1 75772 1.31975E-5 37886 0 NA
1-65614123-C-T p.Leu11Leu synonymous AK4 2 75794 2.63873E-5 37897 0 1.68237E-4
1-65614129-G-T p.Pro13Pro synonymous AK4 2 75740 2.64061E-5 37870 0 6.38651E-5
1-65614141-C-A p.Gly17Gly synonymous AK4 1 76116 1.31378E-5 38058 0 3.78955E-5
1-65614154-T-A p.Cys22Ser missense AK4 6932 76546 0.0905599 38273 848 0.154657
1-65614161-G-A p.Arg24Lys missense AK4 7 77494 9.03296E-5 38747 0 2.54988E-4
1-65614166-G-T p.Ala26Ser missense AK4 1 77444 1.29126E-5 38722 0 4.78377E-5
1-65614171-G-C p.Gln27His missense AK4 1 77854 1.28446E-5 38927 0 NA
1-65614181-C-T p.Leu31Phe missense AK4 1 78132 1.27989E-5 39066 0 NA
1-65614183-C-T p.Leu31Leu synonymous AK4 1 78182 1.27907E-5 39091 0 4.97127E-6
1-65614211-C-T p.Arg41Trp missense AK4 2 78314 2.55382E-5 39157 0 4.563E-6
1-65614212-G-A p.Arg41Gln missense AK4 1 78428 1.27505E-5 39214 0 NA
1-65614216-G-C p.Glu42Asp missense AK4 3 78426 3.82526E-5 39213 0 1.41296E-4
1-65614216-G-T p.Glu42Asp missense AK4 2 78426 2.55017E-5 39213 0 4.54632E-6
1-65614225-G-T p.Lys45Asn missense AK4 5 78388 6.37853E-5 39194 0 4.5635E-5
1-65614233-C-G p.Thr48Ser missense+splice_region AK4 1 78244 1.27805E-5 39122 0 3.18735E-5
1-65614233-C-T p.Thr48Ile missense+splice_region AK4 1 78244 1.27805E-5 39122 0 NA
1-65614239-A-AG c.145+4_145+5insG splice_region AK4 177 78290 0.00226083 39145 1 0.00266546
1-65614241-G-A c.145+6G>A splice_region AK4 1 78340 1.27649E-5 39170 0 2.27718E-5
1-65614243-G-C c.145+8G>C splice_region AK4 296 77956 0.00379701 38978 6 0.00879317
1-65656389-A-G c.146-4A>G splice_region AK4 1 81558 1.22612E-5 40779 0 NA
1-65656412-G-T p.Lys55Asn missense AK4 3 82470 3.63769E-5 41235 0 9.55962E-5
1-65656420-T-C p.Ile58Thr missense AK4 2 82708 2.41815E-5 41354 0 NA
1-65656428-A-T p.Ser61Cys missense AK4 9 82824 1.08664E-4 41412 0 0.001875
1-65656435-T-A p.Leu63* stop_gained AK4 2 82914 2.41214E-5 41457 0 NA
1-65656452-A-T p.Ile69Phe missense AK4 1 83114 1.20317E-5 41557 0 NA
1-65656458-C-T p.Arg71Cys missense AK4 2 83120 2.40616E-5 41560 1 5.03525E-4
1-65656459-G-A p.Arg71His missense AK4 15 83108 1.80488E-4 41554 0 4.45831E-4
1-65656464-A-G p.Met73Val missense AK4 1 83172 1.20233E-5 41586 0 3.18512E-5
1-65656467-A-T p.Met74Leu missense AK4 1 83174 1.2023E-5 41587 0 3.97848E-6
1-65656473-G-A p.Glu76Lys missense AK4 1 83178 1.20224E-5 41589 0 4.1216E-5
1-65656488-C-T p.Arg81Cys missense AK4 1 83192 1.20204E-5 41596 0 1.64883E-5
1-65656488-C-A p.Arg81Ser missense AK4 1 83192 1.20204E-5 41596 0 NA
1-65656489-G-A p.Arg81His missense AK4 13 83188 1.56273E-4 41594 0 1.31377E-4
1-65656517-G-C c.265+5G>C splice_region AK4 1 83246 1.20126E-5 41623 0 NA
1-65656519-T-C c.265+7T>C splice_region AK4 1 83236 1.2014E-5 41618 0 NA
1-65684444-T-G p.Pro91Pro synonymous AK4 1 80818 1.23735E-5 40409 0 NA
1-65684450-A-G p.Thr93Thr synonymous AK4 1 80918 1.23582E-5 40459 0 6.36862E-5
1-65684451-T-G p.Leu94Val missense AK4 1 80926 1.2357E-5 40463 0 1.30044E-5
1-65684463-G-A p.Glu98Lys missense AK4 1 80992 1.23469E-5 40496 0 3.93223E-5
1-65684466-G-A p.Ala99Thr missense AK4 3 81086 3.69978E-5 40543 0 1.68226E-5
1-65684486-A-G p.Glu105Glu synonymous AK4 1 81132 1.23256E-5 40566 0 5.21921E-4
1-65684495-A-C p.Leu108Leu synonymous AK4 1 81122 1.23271E-5 40561 0 NA
1-65684496-G-C p.Val109Leu missense AK4 1 81128 1.23262E-5 40564 0 NA
1-65684510-T-G p.Asn113Lys missense AK4 1 81238 1.23095E-5 40619 0 4.48387E-5
1-65684544-C-T p.Arg125Cys missense AK4 5 81854 6.10844E-5 40927 0 1.08463E-4
1-65684545-G-A p.Arg125His missense AK4 1 81808 1.22237E-5 40904 0 3.33817E-5
1-65684547-C-T p.Arg126Cys missense AK4 3 81950 3.66077E-5 40975 0 9.55353E-5
1-65684548-G-A p.Arg126His missense AK4 1 81998 1.21954E-5 40999 0 1.21661E-5
1-65684548-G-C p.Arg126Pro missense AK4 1 81998 1.21954E-5 40999 0 3.18532E-5
1-65684552-G-C p.Trp127Cys missense AK4 1 82106 1.21794E-5 41053 0 NA
1-65684567-C-T p.Ser132Ser synonymous AK4 1 82212 1.21637E-5 41106 0 3.66898E-5
1-65684568-G-A p.Gly133Arg missense AK4 2 82266 2.43114E-5 41133 0 1.68008E-5
1-65684569-G-C p.Gly133Ala missense AK4 1 82294 1.21516E-5 41147 0 NA
1-65684573-G-A p.Arg134Arg synonymous AK4 1 82378 1.21392E-5 41189 0 1.23269E-5
1-65684601-C-T p.His144Tyr missense AK4 1 82092 1.21815E-5 41046 0 NA
1-65684602-A-G p.His144Arg missense AK4 1 82112 1.21785E-5 41056 0 NA
1-65690430-T-G c.439-5T>G splice_region AK4 7 80550 8.69025E-5 40275 0 6.3678E-5
1-65690431-G-T c.439-4G>T splice_region AK4 7 80592 8.68573E-5 40296 0 4.12249E-5
1-65690442-A-G p.Asp149Gly missense AK4 1 80956 1.23524E-5 40478 0 NA
1-65690446-C-T p.Asp150Asp synonymous AK4 1536 81046 0.0189522 40523 86 0.0404166
1-65690447-G-A p.Val151Ile missense AK4 3 81110 3.69868E-5 40555 0 6.36902E-5
1-65690460-C-T p.Pro155Leu missense AK4 2 81500 2.45399E-5 40750 0 1.19387E-5
1-65690461-G-A p.Pro155Pro synonymous AK4 18592 80752 0.230236 40376 2445 0.280972
1-65690488-C-T p.Pro164Pro synonymous AK4 1 82018 1.21924E-5 41009 0 3.18532E-5
1-65690489-G-A p.Glu165Lys missense AK4 1 82060 1.21862E-5 41030 0 1.98967E-5
1-65690498-G-A p.Ala168Thr missense AK4 1 82158 1.21717E-5 41079 0 3.1837E-5
1-65690502-C-T p.Ala169Val missense AK4 2 82168 2.43404E-5 41084 0 NA
1-65690524-C-T p.Asp176Asp synonymous AK4 2 82144 2.43475E-5 41072 0 2.78809E-5
1-65690525-G-A p.Val177Met missense AK4 1 82148 1.21732E-5 41074 0 NA
1-65690533-G-C p.Lys179Asn missense AK4 3 82116 3.65337E-5 41058 0 1.65125E-5
1-65690536-A-C p.Pro180Pro synonymous AK4 1 82120 1.21773E-5 41060 0 NA
1-65690537-G-A p.Val181Ile missense AK4 1 82092 1.21815E-5 41046 0 3.1837E-5
1-65690561-T-C c.557+8T>C splice_region AK4 1 81976 1.21987E-5 40988 0 9.58122E-5
1-65691746-G-A p.Lys186Lys splice_region+synonymous AK4 2 81644 2.44966E-5 40822 0 NA
1-65691748-G-A p.Ser187Asn missense+splice_region AK4 1 81620 1.22519E-5 40810 0 3.18451E-5
1-65691751-G-A p.Arg188Gln missense AK4 1 81584 1.22573E-5 40792 0 3.18492E-5
1-65691773-C-T n.832C>T splice_region AK4 8 81360 9.83284E-5 40680 0 9.55292E-5
1-65691785-G-A p.Thr199Thr synonymous AK4 1 81038 1.23399E-5 40519 0 4.3096E-5
1-65691803-C-T p.Tyr205Tyr synonymous AK4 13 80672 1.61146E-4 40336 0 2.86642E-4
1-65691830-C-T p.Ile214Ile synonymous AK4 1 79974 1.25041E-5 39987 0 4.04645E-6
1-65691840-C-G p.Gln218Glu missense AK4 1 79608 1.25616E-5 39804 0 NA
1-65691842-G-T p.Gln218His missense AK4 2 79566 2.51364E-5 39783 0 NA
1-65691853-C-G p.Ala222Gly missense AK4 1 79376 1.25983E-5 39688 0 3.20492E-5