Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-16640398-C-T p.Val438Val synonymous ANKMY2 1 82812 1.20755E-5 41406 0 NA
7-16640399-A-C p.Val438Gly missense ANKMY2 1 82816 1.2075E-5 41408 0 NA
7-16640402-T-C p.Gln437Arg missense ANKMY2 1 82846 1.20706E-5 41423 0 8.42687E-6
7-16640407-C-T p.Gly435Gly synonymous ANKMY2 1 82842 1.20712E-5 41421 0 NA
7-16640412-C-CA p.Ala434fs frameshift ANKMY2 13 82860 1.56891E-4 41430 0 1.27421E-4
7-16640413-A-G p.Pro433Pro synonymous ANKMY2 3 82860 3.62056E-5 41430 0 3.34152E-5
7-16640425-T-C p.Leu429Leu synonymous ANKMY2 4 82914 4.82428E-5 41457 0 6.36862E-5
7-16640436-A-G p.Leu426Leu synonymous ANKMY2 1 82876 1.20662E-5 41438 0 9.57388E-5
7-16640445-C-T p.Glu423Lys missense ANKMY2 18 82862 2.17229E-4 41431 0 8.91663E-4
7-16640454-G-A p.Leu420Phe missense ANKMY2 1222 82822 0.0147545 41411 25 0.0372608
7-16640482-T-C p.Glu410Glu synonymous ANKMY2 1 82912 1.2061E-5 41456 0 NA
7-16640491-G-A p.Ser407Ser synonymous ANKMY2 14416 82644 0.174435 41322 1441 0.185
7-16640501-TGA-T p.Gln404fs frameshift ANKMY2 1 82980 1.20511E-5 41490 0 8.25191E-6
7-16640519-G-A p.Ala398Val missense ANKMY2 1 83080 1.20366E-5 41540 0 NA
7-16640522-T-C p.Glu397Gly missense ANKMY2 2 83092 2.40697E-5 41546 0 NA
7-16640532-C-G p.Glu394Gln missense ANKMY2 4 83122 4.8122E-5 41561 0 2.99242E-4
7-16640536-A-G p.Asn392Asn synonymous ANKMY2 2 83144 2.40547E-5 41572 0 8.32404E-6
7-16640539-AAC-A p.Val391fs frameshift ANKMY2 1 83138 1.20282E-5 41569 0 3.1837E-5
7-16640541-C-T p.Val391Ile missense ANKMY2 10 83154 1.20259E-4 41577 0 2.22873E-4
7-16640543-C-A p.Cys390Phe missense ANKMY2 4 83152 4.81047E-5 41576 0 8.34864E-6
7-16640543-CAGTT-C p.Asn389fs frameshift ANKMY2 1 83152 1.20262E-5 41576 0 NA
7-16640543-C-T p.Cys390Tyr missense ANKMY2 4 83152 4.81047E-5 41576 0 8.34864E-6
7-16640548-A-C p.Ser388Ser synonymous ANKMY2 5 83088 6.01772E-5 41544 0 6.69042E-5
7-16640552-T-C p.Asn387Ser missense ANKMY2 3 83084 3.6108E-5 41542 0 3.18471E-5
7-16640562-G-A p.Leu384Phe missense ANKMY2 4 82908 4.82462E-5 41454 0 0.001875
7-16640568-C-T p.Gly382Ser missense+splice_region ANKMY2 5 82782 6.03996E-5 41391 0 1.59551E-4
7-16640569-G-A p.His381His splice_region+synonymous ANKMY2 8 82808 9.6609E-5 41404 0 2.23442E-4
7-16640576-T-TA c.1142-7_1142-6insT splice_region ANKMY2 1 82592 1.21077E-5 41296 0 1.3308E-5
7-16641998-T-C c.1141+7A>G splice_region ANKMY2 1 48408 2.06577E-5 24204 0 3.18492E-5
7-16641999-A-G c.1141+6T>C splice_region ANKMY2 1 48410 2.06569E-5 24205 0 4.01059E-6
7-16642001-A-G c.1141+4T>C splice_region ANKMY2 6 83280 7.20461E-5 41640 0 1.27389E-4
7-16642005-G-A p.His381Tyr missense+splice_region ANKMY2 5 83304 6.00211E-5 41652 0 6.37511E-5
7-16642006-G-GT p.Asn380fs frameshift ANKMY2 2 83308 2.40073E-5 41654 1 NA
7-16642009-TTCC-T p.Glu379del disruptive_inframe_deletion ANKMY2 1 83322 1.20016E-5 41661 0 3.6021E-5
7-16642009-T-C p.Glu379Glu synonymous ANKMY2 1 83322 1.20016E-5 41661 0 8.27732E-6
7-16642014-CTT-C p.Gln377fs frameshift ANKMY2 1 83332 1.20002E-5 41666 0 NA
7-16642015-T-C p.Gln377Gln synonymous ANKMY2 1 83330 1.20005E-5 41665 0 NA
7-16642019-C-T p.Arg376Lys missense ANKMY2 2 83338 2.39987E-5 41669 0 6.37105E-5
7-16642026-C-G p.Glu374Gln missense ANKMY2 2 83334 2.39998E-5 41667 0 NA
7-16642027-T-C p.Lys373Lys synonymous ANKMY2 1 83334 1.19999E-5 41667 0 NA
7-16642033-A-G p.Ala371Ala synonymous ANKMY2 2 83342 2.39975E-5 41671 0 3.98785E-6
7-16642035-C-G p.Ala371Pro missense ANKMY2 1 83336 1.19996E-5 41668 0 NA
7-16642043-T-C p.Gln368Arg missense ANKMY2 1 83344 1.19985E-5 41672 0 3.1841E-5
7-16642050-T-C p.Lys366Glu missense ANKMY2 15 83340 1.79986E-4 41670 0 1.15355E-4
7-16642053-C-T p.Glu365Lys missense ANKMY2 2 83334 2.39998E-5 41667 0 6.37186E-5
7-16642054-G-A p.Tyr364Tyr synonymous ANKMY2 10 83336 1.19996E-4 41668 0 1.40084E-4
7-16642055-T-G p.Tyr364Ser missense ANKMY2 3 83338 3.5998E-5 41669 0 6.36902E-5
7-16642059-T-C p.Ile363Val missense ANKMY2 1 83338 1.19993E-5 41669 0 8.23981E-6
7-16642073-T-G p.Lys358Thr missense ANKMY2 1 83348 1.19979E-5 41674 0 1.64794E-5
7-16642081-T-G p.Lys355Asn missense ANKMY2 2 83342 2.39975E-5 41671 0 NA
7-16642101-G-C p.His349Asp missense ANKMY2 1 83330 1.20005E-5 41665 0 3.18573E-5
7-16642106-T-C p.Lys347Arg missense ANKMY2 1 83330 1.20005E-5 41665 0 NA
7-16642124-C-T p.Cys341Tyr missense ANKMY2 1 83314 1.20028E-5 41657 0 1.65158E-5
7-16642128-A-ATATT p.Tyr340fs frameshift ANKMY2 1 83308 1.20036E-5 41654 0 NA
7-16642134-C-T p.Val338Ile missense+splice_region ANKMY2 1 83314 1.20028E-5 41657 0 3.18471E-5
7-16642135-C-CATTTTGCAAACTGAACATCTTTTACT c.1012-2_1012-1insAGTAAAAGATGTTCAGTTTGCAAAAT splice_acceptor ANKMY2 3 83312 3.60092E-5 41656 1 NA
7-16643168-A-C c.*97+6T>G splice_region ANKMY2 1 50740 1.97083E-5 25370 0 NA
7-16643173-C-T c.*97+1G>A splice_donor ANKMY2 235 50870 0.00461962 25435 1 0.0052226
7-16643280-T-C p.Arg339Arg synonymous ANKMY2 3 51276 5.85069E-5 25638 0 3.1839E-5
7-16643284-C-T p.Cys338Tyr missense+splice_region ANKMY2 3 51270 5.85137E-5 25635 0 6.36902E-5
7-16643289-A-C c.1012-4T>G splice_region ANKMY2 1 51262 1.95076E-5 25631 0 NA
7-16643291-G-A c.1012-6C>T splice_region ANKMY2 3 51258 5.85275E-5 25629 0 1.02296E-4
7-16644341-C-G c.1011+5G>C splice_region ANKMY2 2 83292 2.40119E-5 41646 0 NA
7-16644343-T-C c.1011+3A>G splice_region ANKMY2 1 83312 1.20031E-5 41656 0 NA
7-16644352-G-A p.Cys335Cys synonymous ANKMY2 2 83316 2.4005E-5 41658 0 3.98257E-6
7-16644369-T-C p.Lys330Glu missense ANKMY2 1 83334 1.19999E-5 41667 0 7.95621E-6
7-16644397-G-A p.Cys320Cys synonymous ANKMY2 1 83346 1.19982E-5 41673 0 NA
7-16644411-C-A p.Asp316Tyr missense ANKMY2 2 83344 2.39969E-5 41672 0 NA
7-16644428-C-CCAGTGAT p.Gly310fs frameshift ANKMY2 2 83334 2.39998E-5 41667 0 1.64799E-5
7-16644431-G-T p.Thr309Asn missense ANKMY2 3 83332 3.60006E-5 41666 0 3.1835E-5
7-16644433-G-A p.Ile308Ile synonymous ANKMY2 3 83340 3.59971E-5 41670 0 6.36821E-5
7-16644435-T-C p.Ile308Val missense ANKMY2 22 83340 2.63979E-4 41670 0 1.2738E-4
7-16644451-G-A p.Ser302Ser synonymous ANKMY2 7 83330 8.40034E-5 41665 0 0.00100705
7-16644457-T-A p.Ala300Ala synonymous ANKMY2 1 83330 1.20005E-5 41665 0 NA
7-16644471-A-C p.Ser296Ala missense ANKMY2 5 83306 6.00197E-5 41653 0 2.55009E-4
7-16644474-C-CAATTTCAACAGGAGCAATGCTT c.883-1_883insAAGCATTGCTCCTGTTGAAATT splice_acceptor ANKMY2 2 83284 2.40142E-5 41642 0 NA
7-16644474-C-CAATTTCAACAGGAGCAATGCTTCGAACCAG c.883-1_883insCTGGTTCGAAGCATTGCTCCTGTTGAAATT splice_acceptor ANKMY2 1 83284 1.20071E-5 41642 0 NA
7-16644474-C-CAATTTCAACAGGAGCAATG c.883-1_883insCATTGCTCCTGTTGAAATT splice_acceptor ANKMY2 2 83284 2.40142E-5 41642 1 NA
7-16644482-G-C c.883-8C>G splice_region ANKMY2 2 83168 2.40477E-5 41584 0 NA
7-16644482-G-A c.883-8C>T splice_region ANKMY2 2 83166 2.40483E-5 41583 0 NA
7-16649252-T-G c.882+3A>C splice_region ANKMY2 1 83232 1.20146E-5 41616 0 NA
7-16649260-C-T p.Glu293Lys missense ANKMY2 5 83260 6.00528E-5 41630 0 1.65336E-5
7-16649278-G-A p.Arg287* stop_gained ANKMY2 2 83290 2.40125E-5 41645 0 6.36943E-5
7-16649291-G-C p.Leu282Leu synonymous ANKMY2 72 83306 8.64283E-4 41653 0 0.00229241
7-16649296-G-A p.Leu281Phe missense ANKMY2 1 83310 1.20034E-5 41655 0 NA
7-16649299-T-C p.Thr280Ala missense ANKMY2 2 83312 2.40061E-5 41656 0 NA
7-16649314-GA-G p.Pro275fs frameshift ANKMY2 1 83292 1.2006E-5 41646 0 8.2409E-6
7-16649316-A-C p.Phe274Cys missense ANKMY2 2 83294 2.40113E-5 41647 0 NA
7-16649353-A-G p.Tyr262His missense ANKMY2 1 83262 1.20103E-5 41631 0 NA
7-16649367-T-A p.Asp257Val missense ANKMY2 1 83246 1.20126E-5 41623 0 NA
7-16649376-C-T p.Arg254Gln missense ANKMY2 2 83204 2.40373E-5 41602 0 1.2281E-5
7-16649377-G-A p.Arg254* stop_gained ANKMY2 2 83200 2.40385E-5 41600 0 8.19954E-6
7-16649379-C-T p.Gly253Asp missense ANKMY2 2 83194 2.40402E-5 41597 0 4.09762E-6
7-16649390-G-A p.Ser249Ser splice_region+synonymous ANKMY2 1 83076 1.20372E-5 41538 0 8.22957E-6
7-16649398-A-G c.747-8T>C splice_region ANKMY2 2 82916 2.41208E-5 41458 0 1.65101E-5
7-16650168-G-C c.746+6C>G splice_region ANKMY2 1 82514 1.21192E-5 41257 0 6.26566E-4
7-16650212-T-A p.Leu236Phe missense ANKMY2 5 83168 6.01193E-5 41584 0 6.36862E-5
7-16650226-A-T p.Cys232Ser missense ANKMY2 11 83196 1.32218E-4 41598 0 6.60371E-5
7-16650235-A-G p.Phe229Leu missense ANKMY2 12 83206 1.4422E-4 41603 0 5.09424E-4
7-16650235-A-T p.Phe229Ile missense ANKMY2 1 83206 1.20184E-5 41603 0 NA
7-16650236-G-C p.Ile228Met missense ANKMY2 4 83200 4.80769E-5 41600 0 1.65014E-5
7-16650244-T-C p.Ser226Gly missense ANKMY2 1 83196 1.20198E-5 41598 0 NA
7-16650247-T-C p.Ile225Val missense ANKMY2 1 83198 1.20195E-5 41599 0 NA
7-16650248-G-A p.Tyr224Tyr synonymous ANKMY2 1 83198 1.20195E-5 41599 0 NA
7-16650253-G-A p.His223Tyr missense ANKMY2 1 83198 1.20195E-5 41599 0 5.04032E-4
7-16650262-T-C p.Met220Val missense ANKMY2 1 83196 1.20198E-5 41598 0 8.24484E-6
7-16650279-A-G p.Met214Thr missense ANKMY2 3 83170 3.60707E-5 41585 0 NA
7-16650280-T-C p.Met214Val missense ANKMY2 1 83166 1.20241E-5 41583 0 8.24158E-6
7-16650290-C-T p.Lys210Lys synonymous ANKMY2 2 83144 2.40547E-5 41572 0 2.78589E-5
7-16650295-T-C p.Met209Val missense ANKMY2 1 83122 1.20305E-5 41561 0 3.98E-6
7-16650348-T-G p.Glu191Ala missense ANKMY2 136 82798 0.00164255 41399 0 0.00315246
7-16650356-CA-C p.Leu188fs frameshift ANKMY2 1 82714 1.20899E-5 41357 0 8.24484E-6
7-16650365-A-T p.Asn185Lys missense ANKMY2 1 82544 1.21148E-5 41272 0 NA
7-16650379-G-T p.Leu181Ile missense ANKMY2 1 82232 1.21607E-5 41116 0 NA
7-16650385-C-T p.Val179Met missense ANKMY2 3 82014 3.65791E-5 41007 0 4.40271E-5
7-16650386-G-C p.Ile178Met missense+splice_region ANKMY2 1 81944 1.22035E-5 40972 0 4.00583E-6
7-16650390-T-TTGACAGGATGA c.532-3_532-2insTCATCCTGTCA splice_region ANKMY2 2 81824 2.44427E-5 40912 1 NA
7-16655364-A-C c.531+5T>G splice_region ANKMY2 1 80812 1.23744E-5 40406 0 8.25627E-6
7-16655366-T-C c.531+3A>G splice_region ANKMY2 3 80844 3.71085E-5 40422 0 8.2545E-6
7-16655372-G-A p.Val176Val synonymous ANKMY2 2 80958 2.47042E-5 40479 0 1.60165E-5
7-16655385-T-C p.Asn172Ser missense ANKMY2 2 81214 2.46263E-5 40607 0 NA
7-16655387-C-T p.Thr171Thr synonymous ANKMY2 15154 80994 0.1871 40497 1540 0.254375
7-16655388-G-A p.Thr171Met missense ANKMY2 2 81262 2.46117E-5 40631 0 3.18492E-5
7-16655389-T-C p.Thr171Ala missense ANKMY2 39 81286 4.79787E-4 40643 0 0.001875
7-16655393-G-T p.Thr169Thr synonymous ANKMY2 37 81338 4.54892E-4 40669 0 0.00152827
7-16655394-G-A p.Thr169Ile missense ANKMY2 7 81328 8.60712E-5 40664 0 NA
7-16655403-T-C p.Lys166Arg missense ANKMY2 2 81424 2.45628E-5 40712 0 NA
7-16655403-T-G p.Lys166Thr missense ANKMY2 2 81424 2.45628E-5 40712 0 3.18492E-5
7-16655406-TG-CC p.His165Gly missense ANKMY2 1 81434 1.22799E-5 40717 0 NA
7-16655411-CGGGCCTGCCAACTTTGGG-C p.Pro158_Pro163del disruptive_inframe_deletion ANKMY2 1 81560 1.22609E-5 40780 0 NA
7-16655411-C-T p.Pro163Pro synonymous ANKMY2 3 81560 3.67827E-5 40780 0 1.9948E-5
7-16655411-C-CG p.Leu164fs frameshift ANKMY2 1 81560 1.22609E-5 40780 0 NA
7-16655412-G-A p.Pro163Leu missense ANKMY2 4 81642 4.89944E-5 40821 0 9.97311E-5
7-16655417-T-A p.Ala161Ala synonymous ANKMY2 4 81714 4.89512E-5 40857 0 1.19623E-5
7-16655423-C-T p.Lys159Lys synonymous ANKMY2 61 81836 7.45393E-4 40918 0 0.00252016
7-16655426-T-TG p.Leu160fs frameshift ANKMY2 1 81904 1.22094E-5 40952 0 NA
7-16655427-G-C p.Pro158Arg missense ANKMY2 3 81924 3.66193E-5 40962 0 3.18512E-5
7-16655434-G-T p.Leu156Met missense ANKMY2 1 82066 1.21853E-5 41033 0 NA
7-16655434-G-A p.Leu156Leu synonymous ANKMY2 3 82066 3.65559E-5 41033 0 8.23981E-6
7-16655436-T-C p.Lys155Arg missense ANKMY2 2 82116 2.43558E-5 41058 0 3.984E-6
7-16655437-T-C p.Lys155Glu missense ANKMY2 1 82130 1.21758E-5 41065 0 8.23981E-6
7-16655437-T-G p.Lys155Gln missense ANKMY2 1 82130 1.21758E-5 41065 0 NA
7-16655462-C-T p.Lys146Lys synonymous ANKMY2 3 82314 3.64458E-5 41157 0 5.03525E-4
7-16655464-T-C p.Lys146Glu missense ANKMY2 1 82320 1.21477E-5 41160 0 NA
7-16655467-T-C p.Thr145Ala missense ANKMY2 2 82314 2.42972E-5 41157 0 NA
7-16655483-C-G p.Glu139Asp missense ANKMY2 1 82150 1.21729E-5 41075 0 NA
7-16655487-C-T p.Arg138Gln missense ANKMY2 3 82116 3.65337E-5 41058 0 NA
7-16655488-G-A p.Arg138* stop_gained ANKMY2 2 82070 2.43694E-5 41035 0 3.18593E-5
7-16655506-T-C p.Ile132Val missense ANKMY2 2 81834 2.44397E-5 40917 0 4.13517E-5
7-16655509-T-C p.Ile131Val missense ANKMY2 1 81790 1.22264E-5 40895 0 3.1835E-5
7-16655510-G-A p.Thr130Thr synonymous ANKMY2 1 81754 1.22318E-5 40877 0 8.27499E-6
7-16655510-G-C p.Thr130Thr synonymous ANKMY2 1 81754 1.22318E-5 40877 0 NA
7-16655523-T-C p.His126Arg missense ANKMY2 8 81432 9.82415E-5 40716 0 1.08799E-4
7-16655523-T-G p.His126Pro missense ANKMY2 1 81432 1.22802E-5 40716 0 NA
7-16655528-A-C p.Gly124Gly splice_region+synonymous ANKMY2 1 81220 1.23122E-5 40610 0 NA
7-16655529-C-T p.Gly124Asp missense+splice_region ANKMY2 1 81196 1.23159E-5 40598 0 NA
7-16655537-T-C c.371-8A>G splice_region ANKMY2 1 80974 1.23496E-5 40487 0 8.93431E-6
7-16664636-T-C p.Arg114Arg synonymous ANKMY2 3 83168 3.60716E-5 41584 0 1.89935E-4
7-16664646-G-T p.Ser111Tyr missense ANKMY2 2 83176 2.40454E-5 41588 0 1.19355E-5
7-16664650-T-G p.Asn110His missense ANKMY2 1 83188 1.2021E-5 41594 0 8.25818E-6
7-16664661-G-T p.Thr106Lys missense ANKMY2 1 83156 1.20256E-5 41578 0 8.25887E-6
7-16664676-T-C p.Glu101Gly missense ANKMY2 1 83094 1.20346E-5 41547 0 NA
7-16664681-C-T p.Met99Ile missense ANKMY2 7 83050 8.42866E-5 41525 0 9.55536E-5
7-16664684-T-A p.Val98Val synonymous ANKMY2 1 83032 1.20435E-5 41516 0 NA
7-16664685-A-T p.Val98Glu missense ANKMY2 1 83028 1.20441E-5 41514 0 NA
7-16664686-C-T p.Val98Ile missense ANKMY2 1 83012 1.20465E-5 41506 0 3.98019E-6
7-16664693-G-C p.Ile95Met missense ANKMY2 2 82940 2.41138E-5 41470 0 1.03529E-4
7-16664698-C-A p.Asp94Tyr missense ANKMY2 1 82870 1.20671E-5 41435 0 NA
7-16664702-A-AAAAAAACTTAAGTAT p.Asn92delinsLysTyrLeuSerPhePhe disruptive_inframe_insertion ANKMY2 1 82836 1.2072E-5 41418 0 NA
7-16666662-C-T c.271+3G>A splice_region ANKMY2 4 82306 4.85991E-5 41153 0 0.00125
7-16666667-G-C p.Ser90Cys missense+splice_region ANKMY2 1 82396 1.21365E-5 41198 0 9.49794E-6
7-16666677-C-G p.Ala87Pro missense ANKMY2 1 82556 1.2113E-5 41278 0 4.16039E-6
7-16666690-T-C p.Thr82Thr synonymous ANKMY2 1 82852 1.20697E-5 41426 0 NA
7-16666700-T-C p.His79Arg missense ANKMY2 1 83000 1.20482E-5 41500 0 6.08833E-5
7-16666712-T-C p.His75Arg missense ANKMY2 1 83038 1.20427E-5 41519 0 NA
7-16666721-A-G p.Val72Ala missense ANKMY2 2 83044 2.40836E-5 41522 0 1.2738E-4
7-16666725-C-T p.Asp71Asn missense ANKMY2 925 83018 0.0111422 41509 26 0.0232694
7-16666725-CG-TA p.AlaAsp70AlaAsn missense ANKMY2 1 83040 1.20424E-5 41520 0 NA
7-16666726-G-A p.Ala70Ala synonymous ANKMY2 5 83024 6.02235E-5 41512 0 2.56937E-5
7-16666731-C-T p.Gly69Arg missense ANKMY2 1 83034 1.20433E-5 41517 0 1.7101E-5
7-16666733-T-A p.His68Leu missense ANKMY2 11 83028 1.32485E-4 41514 0 3.18532E-5
7-16666736-C-T p.Arg67Gln missense ANKMY2 5 83008 6.02352E-5 41504 0 6.37024E-5
7-16666741-T-G p.Leu65Leu synonymous ANKMY2 16170 82442 0.196138 41221 1760 0.225076
7-16666758-C-A p.Asp60Tyr missense ANKMY2 1 82878 1.20659E-5 41439 0 3.36321E-5
7-16666759-G-C p.Leu59Leu synonymous ANKMY2 16005 82190 0.194732 41095 1719 0.1925
7-16666759-G-A p.Leu59Leu synonymous ANKMY2 73 82868 8.80919E-4 41434 1 0.00274322
7-16666759-GA-CC p.Leu59Arg missense ANKMY2 3 82874 3.61995E-5 41437 0 NA
7-16666760-A-C p.Leu59Arg missense ANKMY2 1 82872 1.20668E-5 41436 0 6.36821E-5
7-16666783-C-T p.Met51Ile missense ANKMY2 1 82692 1.20931E-5 41346 0 5.03525E-4
7-16666788-G-C p.Leu50Val missense ANKMY2 6 82648 7.2597E-5 41324 0 1.24624E-5
7-16666791-G-A p.Pro49Ser missense ANKMY2 1 82596 1.21071E-5 41298 0 NA
7-16666793-G-T p.Thr48Asn missense ANKMY2 1 82278 1.21539E-5 41139 0 NA
7-16666805-T-TCGTCCAAACAGTTGACACGAACATTCTTGC c.133-3_133-2insGCAAGAATGTTCGTGTCAACTGTTTGGACG splice_region ANKMY2 2 82062 2.43718E-5 41031 1 NA
7-16666805-T-TCGTCCAAACAGTTGACACGAACATTCTTGCTGGATAATAATG c.133-3_133-2insCATTATTATCCAGCAAGAATGTTCGTGTCAACTGTTTGGACG splice_region ANKMY2 4 82062 4.87436E-5 41031 2 NA
7-16666810-T-C c.133-7A>G splice_region ANKMY2 2 81958 2.44027E-5 40979 0 6.25782E-4
7-16676018-C-T p.Glu44Lys missense+splice_region ANKMY2 1 82098 1.21806E-5 41049 0 3.32049E-5
7-16676019-G-A p.Asp43Asp synonymous ANKMY2 80 82022 9.75348E-4 41011 0 0.00153471
7-16676023-A-G p.Leu42Ser missense ANKMY2 2 82388 2.42754E-5 41194 0 3.24444E-5
7-16676029-T-C p.Asn40Ser missense ANKMY2 1 82464 1.21265E-5 41232 0 1.04714E-4
7-16676034-ACG-A p.Arg38fs frameshift ANKMY2 1 82538 1.21156E-5 41269 0 NA
7-16676035-C-T p.Arg38His missense ANKMY2 42 82392 5.09758E-4 41196 0 2.40515E-4
7-16676036-G-A p.Arg38Cys missense ANKMY2 36 82394 4.36925E-4 41197 1 0.00403633
7-16676037-A-ATT p.Arg38fs frameshift ANKMY2 1 82560 1.21124E-5 41280 0 NA
7-16676044-T-C p.Lys35Arg missense ANKMY2 2 82594 2.42148E-5 41297 0 4.12344E-6
7-16676046-G-T p.Ser34Arg missense ANKMY2 1 82600 1.21065E-5 41300 0 1.24445E-5
7-16676058-T-C p.Thr30Thr synonymous ANKMY2 2 82612 2.42096E-5 41306 0 1.30745E-4
7-16676060-T-C p.Thr30Ala missense ANKMY2 2 82620 2.42072E-5 41310 0 1.9459E-4
7-16676076-A-G p.Thr24Thr synonymous ANKMY2 1 82268 1.21554E-5 41134 0 1.05866E-5
7-16676079-A-G p.Gly23Gly splice_region+synonymous ANKMY2 1 82108 1.21791E-5 41054 0 1.55603E-5
7-16676080-C-A p.Gly23Val missense+splice_region ANKMY2 2 81994 2.4392E-5 40997 0 NA
7-16676081-C-CA c.68-2_68-1insT splice_acceptor ANKMY2 1 82046 1.21883E-5 41023 0 1.17937E-5
7-16676082-T-TA c.68-3_68-2insT splice_region ANKMY2 11041 77442 0.142571 38721 188 0.213664
7-16676082-TA-T c.68-3delT splice_region ANKMY2 3941 63248 0.0623103 31624 0 0.243026
7-16676082-T-TAA c.68-3_68-2insTT splice_region ANKMY2 79 81668 9.67331E-4 40834 1 0.00601295
7-16676082-TAA-T c.68-4_68-3delTT splice_region ANKMY2 76 81508 9.32424E-4 40754 0 0.00934854
7-16676082-T-TAAAAAAAAA c.68-3_68-2insTTTTTTTTT splice_region ANKMY2 1 81732 1.22351E-5 40866 0 NA
7-16676082-T-TAAAAAAAAAAA c.68-3_68-2insTTTTTTTTTTT splice_region ANKMY2 2 81732 2.44702E-5 40866 0 NA
7-16676082-T-TAAA c.68-3_68-2insTTT splice_region ANKMY2 7 81726 8.56521E-5 40863 0 2.03511E-4
7-16676082-TAAA-T c.68-5_68-3delTTT splice_region ANKMY2 6 81722 7.34196E-5 40861 0 5.95958E-4
7-16684244-G-A c.*44+7C>T splice_region ANKMY2 5 51308 9.74507E-5 25654 0 3.1839E-5
7-16684246-C-A c.*44+5G>T splice_region ANKMY2 1 51328 1.94825E-5 25664 0 NA
7-16684247-G-C c.*44+4C>G splice_region ANKMY2 19883 48436 0.4105 24218 4077 0.470731
7-16684250-C-T c.*44+1G>A splice_donor ANKMY2 1 51352 1.94734E-5 25676 0 7.6619E-6
7-16684296-C-CA p.Ter70fs frameshift ANKMY2 1 51436 1.94416E-5 25718 0 NA
7-16684297-A-C p.Ter70Glyext*? stop_lost ANKMY2 3 51436 5.83249E-5 25718 0 6.92521E-5
7-16684322-G-A p.Pro61Pro synonymous ANKMY2 1 51448 1.94371E-5 25724 0 NA
7-16684330-G-A p.Pro59Ser missense ANKMY2 2 51450 3.88727E-5 25725 0 NA
7-16684342-T-C p.Arg55Gly missense ANKMY2 8 51440 1.55521E-4 25720 0 NA
7-16684357-C-T p.Glu50Lys missense ANKMY2 1 51422 1.94469E-5 25711 0 6.84585E-6
7-16684370-G-A p.Phe45Phe synonymous ANKMY2 14 51416 2.72289E-4 25708 0 6.05018E-4
7-16684374-T-C p.Tyr44Cys missense ANKMY2 3 51408 5.83567E-5 25704 0 2.05696E-5
7-16684388-C-T p.Thr39Thr synonymous ANKMY2 1 51346 1.94757E-5 25673 0 6.93193E-6
7-16684391-C-T p.Arg38Arg synonymous ANKMY2 1 51340 1.9478E-5 25670 0 NA
7-16684398-G-C p.Ala36Gly missense ANKMY2 2 51298 3.89879E-5 25649 0 6.25E-4
7-16684428-T-C p.His26Arg missense ANKMY2 1 50940 1.96309E-5 25470 0 1.53483E-5
7-16684429-G-A p.His26Tyr missense ANKMY2 1 50892 1.96495E-5 25446 0 1.59276E-4
7-16684430-G-C p.Pro25Pro synonymous ANKMY2 1 50852 1.96649E-5 25426 0 NA
7-16684441-G-A n.311-4C>T splice_region ANKMY2 1 50400 1.98413E-5 25200 0 NA
7-16684443-G-A n.311-6C>T splice_region ANKMY2 1 50338 1.98657E-5 25169 0 1.79482E-5
7-16684444-G-T n.311-7C>A splice_region ANKMY2 1 50272 1.98918E-5 25136 0 NA
7-16685125-C-T c.67+7G>A splice_region ANKMY2 1 80926 1.2357E-5 40463 0 NA
7-16685127-C-G c.67+5G>C splice_region ANKMY2 1 81022 1.23423E-5 40511 0 4.06567E-6
7-16685133-T-C p.Lys22Lys splice_region+synonymous ANKMY2 2 81442 2.45574E-5 40721 0 8.32321E-6
7-16685138-C-A p.Gly21Trp missense ANKMY2 1 81590 1.22564E-5 40795 0 NA
7-16685138-C-G p.Gly21Arg missense ANKMY2 1 81590 1.22564E-5 40795 0 4.04658E-6
7-16685139-G-T p.Ile20Ile synonymous ANKMY2 1 81562 1.22606E-5 40781 0 NA
7-16685141-T-A p.Ile20Phe missense ANKMY2 1 81662 1.22456E-5 40831 0 4.04223E-6
7-16685157-C-T p.Lys14Lys synonymous ANKMY2 1 82188 1.21672E-5 41094 0 3.18613E-5
7-16685159-TCTC-T p.Glu13del conservative_inframe_deletion ANKMY2 1 82174 1.21693E-5 41087 0 1.65445E-5
7-16685161-T-A p.Glu13Val missense ANKMY2 1 82174 1.21693E-5 41087 0 8.27089E-6
7-16685180-C-G p.Gly7Arg missense ANKMY2 1 82366 1.21409E-5 41183 0 NA
7-16685182-T-A p.Lys6Ile missense ANKMY2 4 82388 4.85508E-5 41194 0 9.62773E-5
7-16685189-T-C p.Ile4Val missense ANKMY2 1 82510 1.21197E-5 41255 0 NA
7-16685210-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain ANKMY2 1 82584 1.21089E-5 41292 0 NA
7-16685259-G-A c.-61C>T 5_prime_UTR_premature_start_codon_gain ANKMY2 5 80672 6.19794E-5 40336 0 NA
7-16685284-A-G c.-86T>C 5_prime_UTR_premature_start_codon_gain ANKMY2 3 77704 3.86081E-5 38852 0 NA
7-16685319-A-G c.-121T>C 5_prime_UTR_premature_start_codon_gain ANKMY2 1 67840 1.47406E-5 33920 0 NA
7-16685363-G-A c.-165C>T 5_prime_UTR_premature_start_codon_gain ANKMY2 1 45316 2.20673E-5 22658 0 NA
7-16685368-G-A c.-170C>T 5_prime_UTR_premature_start_codon_gain ANKMY2 9 43240 2.08141E-4 21620 0 7.00949E-4
7-16685368-G-T c.-170C>A 5_prime_UTR_premature_start_codon_gain ANKMY2 6 43240 1.3876E-4 21620 0 6.37227E-5
7-16685370-G-A c.-172C>T 5_prime_UTR_premature_start_codon_gain ANKMY2 1 42430 2.35682E-5 21215 0 6.37471E-5
7-16685380-G-A c.-182C>T 5_prime_UTR_premature_start_codon_gain ANKMY2 1 38892 2.57122E-5 19446 0 NA
7-16685384-G-C c.-186C>G 5_prime_UTR_premature_start_codon_gain ANKMY2 1 37656 2.65562E-5 18828 0 1.27559E-4
7-16685412-T-A c.-214A>T 5_prime_UTR_premature_start_codon_gain ANKMY2 3 32122 9.33939E-5 16061 0 9.57243E-5
7-16685418-G-A c.-220C>T 5_prime_UTR_premature_start_codon_gain ANKMY2 1 29878 3.34694E-5 14939 0 3.18878E-5