Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-72848637-T-C p.Gln309Gln synonymous ANKRA2 1 80994 1.23466E-5 40497 0 8.2428E-6
5-72848643-C-T p.Leu307Leu synonymous ANKRA2 1 80996 1.23463E-5 40498 0 4.01616E-6
5-72848654-A-G p.Leu304Leu synonymous ANKRA2 2 80836 2.47415E-5 40418 0 NA
5-72848659-G-A p.Ser302Leu missense ANKRA2 17 80766 2.10485E-4 40383 0 1.59347E-4
5-72848661-C-T p.Glu301Glu synonymous ANKRA2 1 80740 1.23854E-5 40370 0 NA
5-72848666-T-A p.Ile300Phe missense ANKRA2 1 80638 1.24011E-5 40319 0 NA
5-72848681-G-C c.887-4C>G splice_region ANKRA2 51 80398 6.34344E-4 40199 0 0.005
5-72849223-A-G c.886+8T>C splice_region ANKRA2 1 81950 1.22026E-5 40975 0 NA
5-72849261-C-T p.Asp286Asn missense ANKRA2 1 82370 1.21403E-5 41185 0 NA
5-72849263-A-C p.Met285Arg missense ANKRA2 1 82374 1.21398E-5 41187 0 8.31919E-6
5-72850158-T-C p.Lys265Arg missense ANKRA2 1 82442 1.21297E-5 41221 0 4.98066E-5
5-72850171-C-T p.Val261Met missense ANKRA2 1 82450 1.21286E-5 41225 0 NA
5-72850201-G-C p.Pro251Ala missense ANKRA2 1 82226 1.21616E-5 41113 0 NA
5-72850211-A-G p.Asn247Asn splice_region+synonymous ANKRA2 2 82046 2.43766E-5 41023 0 3.1841E-5
5-72850214-C-CCAATCATATTCATTTACATCAACTCCACAATCAAGCAGCATTT c.739-2_739-1insAAATGCTGCTTGATTGTGGAGTTGATGTAAATGAATATGATTG splice_acceptor ANKRA2 1 82006 1.21942E-5 41003 0 NA
5-72850217-C-T c.739-4G>A splice_region ANKRA2 1 81866 1.22151E-5 40933 0 8.32584E-6
5-72850678-A-C c.738+8T>G splice_region ANKRA2 1 83216 1.20169E-5 41608 0 NA
5-72850709-C-T p.Val239Ile missense ANKRA2 2 83290 2.40125E-5 41645 0 1.19435E-5
5-72850714-C-A p.Cys237Phe missense ANKRA2 1 83286 1.20068E-5 41643 0 2.47415E-5
5-72850714-C-T p.Cys237Tyr missense ANKRA2 1 83286 1.20068E-5 41643 0 NA
5-72850761-C-T p.Leu221Leu synonymous ANKRA2 1 83274 1.20085E-5 41637 0 NA
5-72850764-C-T p.Ser220Ser synonymous ANKRA2 2 83276 2.40165E-5 41638 0 6.59979E-5
5-72850765-G-A p.Ser220Leu missense ANKRA2 2 83270 2.40183E-5 41635 0 1.65003E-5
5-72850780-C-T p.Arg215Gln missense ANKRA2 1 83228 1.20152E-5 41614 0 3.18451E-5
5-72850783-C-A p.Gly214Val missense ANKRA2 1 83218 1.20166E-5 41609 0 3.9887E-6
5-72850802-G-A p.Pro208Ser missense ANKRA2 1 83124 1.20302E-5 41562 0 3.99891E-6
5-72850818-T-G c.613-7A>C splice_region ANKRA2 1 82980 1.20511E-5 41490 0 4.1813E-6
5-72851312-C-T c.612+1G>A splice_donor ANKRA2 1 83174 1.2023E-5 41587 0 NA
5-72851319-A-C p.Leu202Leu synonymous ANKRA2 2 83188 2.40419E-5 41594 0 NA
5-72851335-A-T p.Val197Glu missense ANKRA2 1 83254 1.20114E-5 41627 0 2.06356E-4
5-72851348-C-T p.Gly193Arg missense ANKRA2 1 83270 1.20091E-5 41635 0 1.19341E-5
5-72851349-G-A p.His192His synonymous ANKRA2 3 83274 3.60256E-5 41637 0 9.55475E-5
5-72851392-G-A p.Thr178Met missense ANKRA2 2 83142 2.40552E-5 41571 0 8.30523E-6
5-72851400-G-T p.Ile175Ile synonymous ANKRA2 1 83082 1.20363E-5 41541 0 3.98556E-6
5-72851403-A-T p.Val174Val synonymous ANKRA2 1 83040 1.20424E-5 41520 0 NA
5-72851406-A-G p.Asn173Asn synonymous ANKRA2 1 83000 1.20482E-5 41500 0 3.99221E-5
5-72853258-TACTA-T n.444_447delTAGT splice_region ANKRA2 1 51214 1.95259E-5 25607 0 NA
5-72853260-C-T n.446G>A splice_region ANKRA2 3 47578 6.30544E-5 23789 0 0.00399295
5-72853260-C-A n.446G>T splice_region ANKRA2 15 47896 3.13179E-4 23948 0 NA
5-72853393-C-T c.514+7G>A splice_region ANKRA2 5 81526 6.13301E-5 40763 0 6.25E-4
5-72853396-T-C c.514+4A>G splice_region ANKRA2 2 81724 2.44726E-5 40862 0 NA
5-72853407-G-A p.Ile169Ile synonymous ANKRA2 10 82016 1.21927E-4 41008 0 9.60307E-5
5-72853419-C-G p.Leu165Leu synonymous ANKRA2 2 82172 2.43392E-5 41086 0 NA
5-72853425-G-C p.Leu163Leu synonymous ANKRA2 4 82256 4.86287E-5 41128 0 1.19747E-5
5-72853426-A-G p.Leu163Pro missense ANKRA2 1 82264 1.2156E-5 41132 0 3.46434E-5
5-72853428-C-G p.Met162Ile missense ANKRA2 2 82268 2.43108E-5 41134 0 3.99364E-6
5-72853432-T-C p.Glu161Gly missense ANKRA2 1 82286 1.21527E-5 41143 0 3.19163E-5
5-72853444-G-A p.Ala157Val missense ANKRA2 2 82304 2.43002E-5 41152 0 3.993E-6
5-72853460-A-T p.Ser152Thr missense ANKRA2 1 82254 1.21575E-5 41127 0 NA
5-72853465-G-GAATTTGCTAACAGAGGTGTGGTAGAGACCTCATTTC c.449-1_449insGAAATGAGGTCTCTACCACACCTCTGTTAGCAAATT splice_acceptor ANKRA2 1 82156 1.2172E-5 41078 0 NA
5-72853467-T-C c.449-2A>G splice_acceptor ANKRA2 1 82138 1.21746E-5 41069 0 4.01407E-6
5-72853471-A-G c.449-6T>C splice_region ANKRA2 2 82072 2.43688E-5 41036 0 1.20331E-5
5-72856954-C-A c.448+1G>T splice_donor ANKRA2 3 83238 3.60412E-5 41619 0 4.08717E-6
5-72856958-T-C p.Asn149Asp missense ANKRA2 4 83270 4.80365E-5 41635 1 NA
5-72856961-C-T p.Ala148Thr missense ANKRA2 2 83284 2.40142E-5 41642 0 NA
5-72856974-G-A p.Thr143Thr synonymous ANKRA2 1 83292 1.2006E-5 41646 0 NA
5-72856983-C-A p.Glu140Asp missense ANKRA2 1 83304 1.20042E-5 41652 0 1.59323E-5
5-72857012-T-C p.Thr131Ala missense ANKRA2 1 83324 1.20013E-5 41662 0 3.9782E-6
5-72857021-G-A p.Gln128* stop_gained ANKRA2 2 83320 2.40038E-5 41660 0 2.47121E-5
5-72857036-A-T p.Phe123Ile missense ANKRA2 1 83304 1.20042E-5 41652 0 NA
5-72857051-A-AGG p.Ser118fs frameshift ANKRA2 1 83288 1.20065E-5 41644 0 NA
5-72857052-G-A p.Pro117Pro synonymous ANKRA2 1 83282 1.20074E-5 41641 0 NA
5-72857063-C-A p.Val114Phe missense ANKRA2 1 83256 1.20111E-5 41628 0 NA
5-72857074-TG-T p.Gln110fs frameshift ANKRA2 3 83236 3.60421E-5 41618 0 NA
5-72857076-A-ACACC p.Ile109fs frameshift ANKRA2 3 83248 3.60369E-5 41624 0 NA
5-72857081-C-T p.Gly108Arg missense ANKRA2 1 83224 1.20158E-5 41612 0 NA
5-72857082-CGGA-C p.Pro107del disruptive_inframe_deletion ANKRA2 1 83226 1.20155E-5 41613 0 NA
5-72857082-C-T p.Pro107Pro synonymous ANKRA2 2 83226 2.4031E-5 41613 0 5.03525E-4
5-72857087-A-G p.Ser106Pro missense ANKRA2 1 83230 1.20149E-5 41615 0 7.96572E-6
5-72857106-G-C p.Cys99Trp missense ANKRA2 4 83146 4.81081E-5 41573 0 1.59678E-5
5-72857107-C-T p.Cys99Tyr missense ANKRA2 3 83136 3.60855E-5 41568 0 5.03525E-4
5-72857120-G-GA c.290-8dupT splice_region ANKRA2 2 83052 2.40813E-5 41526 0 NA
5-72858406-A-G n.66T>C splice_region ANKRA2 1 83062 1.20392E-5 41531 0 8.80793E-6
5-72858407-T-G n.65A>C splice_region ANKRA2 2 83064 2.40778E-5 41532 0 3.1839E-5
5-72858427-G-A p.Leu94Leu synonymous ANKRA2 1 83266 1.20097E-5 41633 0 NA
5-72858434-T-TGCCA p.Ser92fs frameshift ANKRA2 5 83280 6.00384E-5 41640 0 3.18451E-5
5-72858459-T-A p.Gln83Leu missense ANKRA2 1 83322 1.20016E-5 41661 0 NA
5-72858471-T-G p.Asn79Thr missense ANKRA2 3 83336 3.59988E-5 41668 0 NA
5-72858499-T-G p.Lys70Gln missense ANKRA2 4 83344 4.79939E-5 41672 0 1.59067E-5
5-72858503-A-C p.Phe68Leu missense ANKRA2 1 83350 1.19976E-5 41675 0 NA
5-72858508-G-A p.Arg67* stop_gained ANKRA2 1 83354 1.1997E-5 41677 0 NA
5-72858531-C-T p.Arg59Gln missense ANKRA2 1 83362 1.19959E-5 41681 0 8.23655E-6
5-72858532-G-A p.Arg59* stop_gained ANKRA2 2 83354 2.3994E-5 41677 0 6.36943E-5
5-72858551-C-T p.Met52Ile missense ANKRA2 3 83372 3.59833E-5 41686 0 NA
5-72858562-C-T p.Ala49Thr missense ANKRA2 1 83372 1.19944E-5 41686 0 3.97655E-6
5-72858567-C-A p.Gly47Val missense ANKRA2 4 83380 4.79731E-5 41690 0 8.23642E-6
5-72858570-T-C p.Gln46Arg missense ANKRA2 1 83380 1.19933E-5 41690 0 2.47093E-5
5-72858588-G-A p.Ser40Leu missense ANKRA2 1 83380 1.19933E-5 41690 0 NA
5-72858596-G-A p.Asp37Asp synonymous ANKRA2 10 83372 1.19944E-4 41686 0 0.00125
5-72858607-G-A p.His34Tyr missense ANKRA2 21 83380 2.51859E-4 41690 0 9.1066E-4
5-72858612-A-G p.Ile32Thr missense ANKRA2 6 83370 7.19683E-5 41685 0 NA
5-72858620-G-A p.Asp29Asp synonymous ANKRA2 1 83374 1.19941E-5 41687 0 8.23696E-5
5-72858621-T-C p.Asp29Gly missense ANKRA2 1 83370 1.19947E-5 41685 0 NA
5-72858641-A-G p.Tyr22Tyr synonymous ANKRA2 61 83370 7.31678E-4 41685 0 5.03525E-4
5-72858647-G-T p.Ser20Arg missense ANKRA2 5 83360 5.99808E-5 41680 0 7.16053E-5
5-72858647-G-C p.Ser20Arg missense ANKRA2 2 83360 2.39923E-5 41680 0 NA
5-72858664-C-T p.Val15Met missense ANKRA2 2 83322 2.40033E-5 41661 0 1.19558E-5
5-72858664-C-A p.Val15Leu missense ANKRA2 1 83322 1.20016E-5 41661 0 NA
5-72858682-T-C p.Ile9Val missense ANKRA2 1 83290 1.20062E-5 41645 0 1.20554E-5
5-72858698-T-C p.Thr3Thr synonymous ANKRA2 6 83190 7.21241E-5 41595 0 3.1841E-5
5-72858810-T-TAGGCGACAGGTGTCCCAGCGTCCCGAGACAGGAGCCCGCTGTCTC c.-104-1_-104insGAGACAGCGGGCTCCTGTCTCGGGACGCTGGGACACCTGTCGCCT splice_acceptor ANKRA2 2 68730 2.90994E-5 34365 1 NA
5-72858810-T-TAGGCGACAGGTGTCCCAGCGTCCCGAGACAGGAGC c.-104-1_-104insGCTCCTGTCTCGGGACGCTGGGACACCTGTCGCCT splice_acceptor ANKRA2 2 68732 2.90985E-5 34366 1 NA
5-72858810-T-TAGGCGACAGGTGTCCCAGCGTCCCGAGACAGGAGCCCG c.-104-1_-104insCGGGCTCCTGTCTCGGGACGCTGGGACACCTGTCGCCT splice_acceptor ANKRA2 1 68732 1.45493E-5 34366 0 NA
5-72858810-T-TAGGCGACAGGTGTCCCAGCGTCCCGAGACAGGAGCCCGCTGTCTCCCG c.-104-1_-104insCGGGAGACAGCGGGCTCCTGTCTCGGGACGCTGGGACACCTGTCGCCT splice_acceptor ANKRA2 2 68732 2.90985E-5 34366 1 NA
5-72858811-C-A c.-104-1G>T splice_acceptor ANKRA2 3 68320 4.3911E-5 34160 0 NA
5-72858817-GA-G c.-104-8delT splice_region ANKRA2 40 65570 6.10035E-4 32785 0 0.00108647
5-72861081-G-C c.-229C>G 5_prime_UTR_premature_start_codon_gain ANKRA2 5 1398 0.00357654 699 2 0.00895646
5-72861250-G-A c.-398C>T 5_prime_UTR_premature_start_codon_gain ANKRA2 1 3670 2.7248E-4 1835 0 6.69429E-4
5-72861309-G-A c.-457C>T 5_prime_UTR_premature_start_codon_gain ANKRA2 1023 6074 0.168423 3037 54 0.189442
5-72861309-G-T c.-457C>A 5_prime_UTR_premature_start_codon_gain ANKRA2 1 6360 1.57233E-4 3180 0 NA
5-72861469-A-G c.-617T>C 5_prime_UTR_premature_start_codon_gain ANKRA2 1 12190 8.20345E-5 6095 0 6.40164E-5
5-72861477-C-A c.-625G>T 5_prime_UTR_premature_start_codon_gain ANKRA2 102 12370 0.00824576 6185 0 0.0228331