Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-99332273-C-G c.-192C>G 5_prime_UTR_premature_start_codon_gain ANKRD2 3 41276 7.26815E-5 20638 0 3.1839E-5
10-99332289-C-T c.-176C>T 5_prime_UTR_premature_start_codon_gain ANKRD2 6 46818 1.28156E-4 23409 0 6.0498E-4
10-99332332-C-T c.-133C>T 5_prime_UTR_premature_start_codon_gain ANKRD2 1 59672 1.67583E-5 29836 0 NA
10-99332352-T-C c.-113T>C 5_prime_UTR_premature_start_codon_gain ANKRD2 1 65548 1.5256E-5 32774 0 1.92086E-4
10-99332354-G-T c.-111G>T 5_prime_UTR_premature_start_codon_gain ANKRD2 2 66312 3.01605E-5 33156 0 3.1998E-5
10-99332364-C-T c.-101C>T 5_prime_UTR_premature_start_codon_gain ANKRD2 5 69168 7.22878E-5 34584 0 1.29955E-4
10-99332411-C-T c.-54C>T 5_prime_UTR_premature_start_codon_gain ANKRD2 1 77252 1.29446E-5 38626 0 NA
10-99332430-G-T c.-35G>T 5_prime_UTR_premature_start_codon_gain ANKRD2 6 79006 7.59436E-5 39503 0 1.59256E-4
10-99332450-T-G c.-15T>G 5_prime_UTR_premature_start_codon_gain ANKRD2 3 80222 3.73962E-5 40111 0 NA
10-99332475-C-T p.Ala4Val missense ANKRD2 1 80982 1.23484E-5 40491 0 1.45548E-5
10-99332476-G-A p.Ala4Ala synonymous ANKRD2 5 81052 6.16888E-5 40526 0 1.30886E-4
10-99332488-A-C p.Ala8Ala synonymous ANKRD2 21582 80524 0.268019 40262 2929 0.349547
10-99332488-A-T c.-58A>T 5_prime_UTR_premature_start_codon_gain ANKRD2 1 81216 1.23128E-5 40608 0 3.55038E-5
10-99332491-G-T p.Gly9Gly synonymous ANKRD2 3 81264 3.69167E-5 40632 0 1.36702E-5
10-99332498-G-A p.Ala12Thr missense ANKRD2 4 81320 4.91884E-5 40660 0 9.55414E-5
10-99332499-C-T p.Ala12Val missense ANKRD2 1 81324 1.22965E-5 40662 0 NA
10-99332503-G-A p.Leu13Leu synonymous ANKRD2 3 81404 3.68532E-5 40702 0 8.60948E-6
10-99332516-C-T p.Pro18Ser missense ANKRD2 1 81432 1.22802E-5 40716 0 1.75348E-5
10-99332517-C-T p.Pro18Leu missense ANKRD2 2 81438 2.45586E-5 40719 0 NA
10-99332518-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain ANKRD2 2 81424 2.45628E-5 40712 0 0.00101317
10-99332519-G-A p.Glu19Lys missense ANKRD2 10 81416 1.22826E-4 40708 0 5.06073E-4
10-99332522-G-A p.Ala20Thr missense ANKRD2 1 81414 1.22829E-5 40707 0 1.6208E-5
10-99332531-C-T p.Pro23Ser missense ANKRD2 10 81396 1.22856E-4 40698 0 0.00254065
10-99332541-C-T p.Ala26Val missense ANKRD2 3 81396 3.68568E-5 40698 0 2.13794E-5
10-99332542-G-A p.Ala26Ala synonymous ANKRD2 1 81404 1.22844E-5 40702 0 4.28927E-5
10-99332551-C-T p.Asp29Asp synonymous ANKRD2 2 81256 2.46136E-5 40628 0 2.33198E-5
10-99332552-G-A p.Gly30Ser missense ANKRD2 3 81256 3.69204E-5 40628 0 3.18471E-5
10-99332557-C-A p.Thr31Thr synonymous ANKRD2 1 81280 1.23031E-5 40640 0 NA
10-99332558-A-G p.Met32Val missense ANKRD2 1 81268 1.2305E-5 40634 0 2.53897E-5
10-99332561-G-A p.Glu33Lys missense ANKRD2 1 81270 1.23047E-5 40635 0 NA
10-99332563-G-A p.Glu33Glu synonymous ANKRD2 1 81260 1.23062E-5 40630 0 3.1841E-5
10-99332569-C-T p.Ser35Ser synonymous ANKRD2 1 81268 1.2305E-5 40634 0 3.18593E-5
10-99332574-C-T p.Ala37Val missense ANKRD2 6 81240 7.38552E-5 40620 0 9.87622E-5
10-99332575-G-A p.Ala37Ala synonymous ANKRD2 16 81262 1.96894E-4 40631 0 4.04013E-4
10-99332592-C-T p.Ala43Val missense ANKRD2 7 81224 8.61814E-5 40612 0 5.14933E-4
10-99332593-G-A p.Ala43Ala synonymous ANKRD2 3 81214 3.69394E-5 40607 0 3.18471E-5
10-99332599-C-T p.Ile45Ile synonymous ANKRD2 11 81210 1.35451E-4 40605 0 2.58621E-4
10-99332606-C-T p.Arg48Trp missense ANKRD2 8 81160 9.85707E-5 40580 0 1.59388E-4
10-99332615-CAGG-C p.Glu54del conservative_inframe_deletion ANKRD2 2 81022 2.46847E-5 40511 0 3.18878E-5
10-99332636-C-T c.168+4C>T splice_region ANKRD2 2 80520 2.48385E-5 40260 0 9.56633E-5
10-99332637-G-A c.168+5G>A splice_region ANKRD2 1 80524 1.24187E-5 40262 0 1.9118E-4
10-99337564-G-C p.Arg59Pro missense ANKRD2 10 80422 1.24344E-4 40211 0 0.00107731
10-99337567-G-A p.Gly60Glu missense ANKRD2 2 80556 2.48275E-5 40278 0 1.14865E-5
10-99337572-G-A p.Ala62Thr missense ANKRD2 49067 79044 0.620756 39522 15928 0.62058
10-99337579-A-T p.Gln64Leu missense ANKRD2 2 80746 2.4769E-5 40373 0 3.18634E-5
10-99337599-C-T p.Leu71Leu synonymous ANKRD2 1 80934 1.23557E-5 40467 0 NA
10-99337620-C-T p.His78Tyr missense ANKRD2 2 80952 2.4706E-5 40476 0 NA
10-99337621-A-C p.His78Pro missense ANKRD2 2 80936 2.47109E-5 40468 0 3.2774E-5
10-99337621-A-G p.His78Arg missense ANKRD2 1 80936 1.23554E-5 40468 0 NA
10-99337626-G-T p.Gly80Trp missense ANKRD2 35 80872 4.32783E-4 40436 0 0.00280273
10-99337631-T-C p.Ala81Ala synonymous ANKRD2 1 80826 1.23723E-5 40413 0 NA
10-99337640-AGCCCTGCAGAAGGT-A p.Ala85fs frameshift ANKRD2 1 80676 1.23953E-5 40338 0 NA
10-99337990-C-G c.271-7C>G splice_region ANKRD2 1 79440 1.25881E-5 39720 0 3.19939E-5
10-99337991-G-T c.271-6G>T splice_region ANKRD2 1 79424 1.25907E-5 39712 0 1.02781E-4
10-99337999-C-A p.Gly91Gly splice_region+synonymous ANKRD2 1 79952 1.25075E-5 39976 0 NA
10-99338005-G-A p.Glu93Glu synonymous ANKRD2 2 80256 2.49203E-5 40128 0 3.56665E-5
10-99338008-C-T p.Arg94Arg synonymous ANKRD2 5 80256 6.23006E-5 40128 0 6.39223E-5
10-99338010-T-A p.Val95Glu missense ANKRD2 1 80360 1.2444E-5 40180 0 8.82083E-6
10-99338012-C-G p.Arg96Gly missense ANKRD2 2 80422 2.48688E-5 40211 0 3.19693E-5
10-99338018-A-ACGTCC p.Leu100fs frameshift ANKRD2 2 80778 2.47592E-5 40389 0 3.19489E-5
10-99338030-C-A p.Leu102Met missense ANKRD2 1 81002 1.23454E-5 40501 0 NA
10-99338069-C-T p.Leu115Phe missense ANKRD2 1 81052 1.23378E-5 40526 0 8.59121E-6
10-99338075-G-T p.Glu117* stop_gained ANKRD2 3 80964 3.70535E-5 40482 0 1.91571E-4
10-99338079-T-TGCGGAAGAAACGCAA p.Arg119_Lys123dup disruptive_inframe_insertion ANKRD2 2 81060 2.46731E-5 40530 0 NA
10-99338082-G-T p.Arg119Leu missense ANKRD2 1 81172 1.23195E-5 40586 0 4.00484E-6
10-99338091-G-T p.Arg122Leu missense ANKRD2 1 81182 1.2318E-5 40591 0 1.20133E-5
10-99338093-A-T p.Lys123* stop_gained ANKRD2 1 81242 1.23089E-5 40621 0 6.25E-4
10-99338096-C-T p.Gln124* stop_gained ANKRD2 2 81180 2.46366E-5 40590 0 NA
10-99338106-G-A p.Arg127Gln missense ANKRD2 1 81342 1.22938E-5 40671 0 NA
10-99338111-G-T p.Ala129Ser missense ANKRD2 1 81278 1.23035E-5 40639 0 NA
10-99338113-T-A p.Ala129Ala synonymous ANKRD2 4 81338 4.91775E-5 40669 0 NA
10-99338120-G-A p.Ala132Thr missense ANKRD2 1 81410 1.22835E-5 40705 0 4.0068E-6
10-99338122-C-G p.Ala132Ala synonymous ANKRD2 38 81450 4.66544E-4 40725 0 3.82971E-4
10-99338125-G-C p.Ser133Ser synonymous ANKRD2 4 81418 4.91292E-5 40709 0 6.87864E-5
10-99338131-G-C p.Glu135Asp missense ANKRD2 8 81474 9.81908E-5 40737 0 1.36302E-4
10-99338131-G-A p.Glu135Glu synonymous ANKRD2 1 81474 1.22739E-5 40737 0 3.19E-5
10-99338132-C-T p.Pro136Ser missense ANKRD2 4 81492 4.90846E-5 40746 0 0.00252781
10-99338139-C-T p.Pro138Leu missense ANKRD2 1 81506 1.2269E-5 40753 0 3.18939E-5
10-99338140-A-C p.Pro138Pro synonymous ANKRD2 1 81472 1.22742E-5 40736 0 1.595E-4
10-99338143-G-A p.Glu139Glu synonymous ANKRD2 3 81470 3.68234E-5 40735 0 3.1902E-5
10-99338146-C-G p.Pro140Pro synonymous ANKRD2 1 81478 1.22733E-5 40739 0 8.83143E-6
10-99338147-G-A p.Glu141Lys missense ANKRD2 1 81522 1.22666E-5 40761 0 6.37999E-5
10-99338252-C-T c.430-3C>T splice_region ANKRD2 2 82120 2.43546E-5 41060 0 4.914E-6
10-99338260-C-T p.Gly145Gly synonymous ANKRD2 1 82072 1.21844E-5 41036 0 1.49996E-5
10-99338262-C-T p.Pro146Leu missense ANKRD2 339 82060 0.00413112 41030 0 0.00645387
10-99338265-T-C p.Val147Ala missense ANKRD2 8 82048 9.75039E-5 41024 0 7.6695E-5
10-99338267-G-A p.Asp148Asn missense ANKRD2 5 82042 6.09444E-5 41021 0 3.36578E-4
10-99338270-G-T p.Glu149* stop_gained ANKRD2 3 82008 3.65818E-5 41004 0 6.37349E-5
10-99338289-C-T p.Ala155Val missense ANKRD2 1 81882 1.22127E-5 40941 0 5.97586E-5
10-99338301-G-A p.Gly159Glu missense ANKRD2 3 81726 3.6708E-5 40863 0 5.42064E-6
10-99338313-T-C p.Val163Ala missense ANKRD2 3 81616 3.67575E-5 40808 0 NA
10-99338314-C-A p.Val163Val synonymous ANKRD2 1 81594 1.22558E-5 40797 0 3.55341E-5
10-99338332-T-C p.Ala169Ala synonymous ANKRD2 1 81350 1.22926E-5 40675 0 5.9343E-6
10-99338336-G-A p.Gly171Arg missense ANKRD2 2 81266 2.46105E-5 40633 0 2.99093E-5
10-99338336-G-T p.Gly171Trp missense ANKRD2 1 81266 1.23053E-5 40633 0 3.19E-5
10-99338340-G-A p.Gly172Glu missense ANKRD2 2 81162 2.46421E-5 40581 0 1.2034E-5
10-99338341-G-A p.Gly172Gly synonymous ANKRD2 1 81112 1.23286E-5 40556 0 3.18918E-5
10-99338347-C-T p.Ala174Ala synonymous ANKRD2 18 80898 2.22502E-4 40449 0 0.00259336
10-99338353-G-T p.Thr176Thr synonymous ANKRD2 1 80748 1.23842E-5 40374 0 0.0010395
10-99338363-G-A c.537+1G>A splice_donor ANKRD2 2 80222 2.49308E-5 40111 0 3.19061E-5
10-99338365-G-A c.537+3G>A splice_region ANKRD2 1 80140 1.24782E-5 40070 0 6.4317E-6
10-99338367-T-A c.537+5T>A splice_region ANKRD2 1 79984 1.25025E-5 39992 0 NA
10-99338368-G-A c.537+6G>A splice_region ANKRD2 2 79862 2.50432E-5 39931 0 NA
10-99338369-C-T c.537+7C>T splice_region ANKRD2 1 79808 1.25301E-5 39904 0 NA
10-99340606-G-T c.538-6G>T splice_region ANKRD2 1 82220 1.21625E-5 41110 0 4.14425E-6
10-99340608-A-T c.538-4A>T splice_region ANKRD2 1 82226 1.21616E-5 41113 0 NA
10-99340615-C-T p.Arg181Cys missense ANKRD2 2 82354 2.42854E-5 41177 0 9.22801E-5
10-99340616-G-A p.Arg181His missense ANKRD2 2 82364 2.42825E-5 41182 0 2.61274E-5
10-99340617-T-A p.Arg181Arg synonymous ANKRD2 1 82404 1.21353E-5 41202 0 NA
10-99340618-C-T p.Arg182Trp missense ANKRD2 2 82426 2.42642E-5 41213 0 5.14522E-5
10-99340627-C-A p.Leu185Met missense ANKRD2 1 82546 1.21145E-5 41273 0 NA
10-99340634-G-A p.Arg187Gln missense ANKRD2 1 82528 1.21171E-5 41264 0 3.18674E-5
10-99340636-G-A p.Ala188Thr missense ANKRD2 1 82570 1.21109E-5 41285 0 8.12453E-6
10-99340674-T-C p.Leu200Leu synonymous ANKRD2 1 82476 1.21247E-5 41238 0 NA
10-99340675-C-G p.Leu201Val missense ANKRD2 1 82488 1.2123E-5 41244 0 4.23517E-6
10-99340682-A-G p.Asn203Ser missense ANKRD2 1 82364 1.21412E-5 41182 0 NA
10-99340685-G-A p.Gly204Glu missense ANKRD2 2 82358 2.42842E-5 41179 0 NA
10-99340686-G-T p.Gly204Gly synonymous ANKRD2 1 82346 1.21439E-5 41173 0 NA
10-99340688-C-T p.Ala205Val missense ANKRD2 1 82288 1.21524E-5 41144 0 9.55779E-5
10-99340694-T-G p.Val207Gly missense ANKRD2 1 82180 1.21684E-5 41090 0 3.72759E-5
10-99340709-G-A p.Arg212Gln missense+splice_region ANKRD2 1 81908 1.22088E-5 40954 0 2.33874E-5
10-99340710-GGTGA-G c.636+1_636+4delGTGA splice_donor ANKRD2 1 81904 1.22094E-5 40952 0 NA
10-99340711-G-A c.636+1G>A splice_donor ANKRD2 1 81904 1.22094E-5 40952 0 NA
10-99340713-G-A c.636+3G>A splice_region ANKRD2 9 81874 1.09925E-4 40937 0 9.55718E-5
10-99341079-T-G p.Cys215Gly missense ANKRD2 1 83312 1.20031E-5 41656 0 NA
10-99341093-T-C p.His219His synonymous ANKRD2 2 83322 2.40033E-5 41661 0 3.18492E-5
10-99341104-G-A p.Arg223His missense ANKRD2 6 83332 7.20012E-5 41666 0 8.25532E-6
10-99341105-C-T p.Arg223Arg synonymous ANKRD2 7 83328 8.40054E-5 41664 0 5.04032E-4
10-99341106-G-A p.Gly224Arg missense ANKRD2 25 83328 3.00019E-4 41664 0 7.00994E-4
10-99341120-G-A p.Glu228Glu synonymous ANKRD2 1 83332 1.20002E-5 41666 0 1.19309E-5
10-99341120-G-T p.Glu228Asp missense ANKRD2 2 83332 2.40004E-5 41666 0 NA
10-99341121-G-T p.Val229Leu missense ANKRD2 3 83334 3.59997E-5 41667 0 8.2481E-6
10-99341130-C-A p.Leu232Ile missense ANKRD2 2 83320 2.40038E-5 41660 0 1.19306E-5
10-99341144-T-C p.His236His synonymous ANKRD2 2 83304 2.40085E-5 41652 0 1.32013E-4
10-99341178-C-CA c.735+7_735+8insA splice_region ANKRD2 15 83158 1.8038E-4 41579 0 4.464E-4
10-99342067-C-T c.736-5C>T splice_region ANKRD2 11 80942 1.359E-4 40471 0 0.00316038
10-99342068-C-T c.736-4C>T splice_region ANKRD2 11 80942 1.359E-4 40471 0 1.25133E-5
10-99342080-C-A p.Ser248Arg missense ANKRD2 2 81096 2.46621E-5 40548 0 NA
10-99342082-C-T p.Thr249Ile missense ANKRD2 1 81128 1.23262E-5 40564 0 0.0020088
10-99342085-C-T p.Pro250Leu missense ANKRD2 134 81138 0.00165151 40569 1 0.00233838
10-99342086-G-A p.Pro250Pro synonymous ANKRD2 2 81162 2.46421E-5 40581 0 2.437E-5
10-99342092-C-T p.His252His synonymous ANKRD2 6 81272 7.38262E-5 40636 0 NA
10-99342100-T-A p.Val255Asp missense ANKRD2 4 81362 4.9163E-5 40681 0 NA
10-99342105-A-T p.Thr257Ser missense ANKRD2 1 81400 1.2285E-5 40700 0 3.51834E-4
10-99342106-C-G p.Thr257Arg missense ANKRD2 1 81442 1.22787E-5 40721 0 NA
10-99342106-C-T p.Thr257Ile missense ANKRD2 1 81442 1.22787E-5 40721 0 NA
10-99342113-G-C p.Gln259His missense ANKRD2 1 81488 1.22717E-5 40744 0 NA
10-99342114-G-A p.Val260Met missense ANKRD2 2 81482 2.45453E-5 40741 0 3.18837E-5
10-99342114-G-T p.Val260Leu missense ANKRD2 1 81482 1.22726E-5 40741 0 0.00151822
10-99342121-TTG-T p.Val263fs frameshift ANKRD2 4 81534 4.90593E-5 40767 0 9.56694E-5
10-99342133-T-C p.Phe266Ser missense ANKRD2 1 81544 1.22633E-5 40772 0 NA
10-99342170-G-A p.Arg278Arg splice_region+synonymous ANKRD2 3 81224 3.69349E-5 40612 0 5.59365E-6
10-99342365-G-C p.Gly247Ala missense ANKRD2 1 82874 1.20665E-5 41437 0 NA
10-99342375-C-T p.Ala250Ala synonymous ANKRD2 3 83016 3.61376E-5 41508 0 NA
10-99342380-A-G p.His252Arg missense ANKRD2 1 83046 1.20415E-5 41523 0 7.95507E-6
10-99342384-C-T p.Asp253Asp synonymous ANKRD2 3 83066 3.61159E-5 41533 0 5.03525E-4
10-99342400-C-T p.Arg259Cys missense ANKRD2 166 83172 0.00199586 41586 0 0.005625
10-99342401-G-T p.Arg259Leu missense ANKRD2 1 83168 1.20239E-5 41584 0 3.97738E-6
10-99342401-G-A p.Arg259His missense ANKRD2 1 83168 1.20239E-5 41584 0 3.18695E-5
10-99342405-C-T p.Tyr260Tyr synonymous ANKRD2 1 83202 1.20189E-5 41601 0 NA
10-99342410-T-C p.Ile262Thr missense ANKRD2 2 83206 2.40367E-5 41603 0 NA
10-99342415-A-G p.Lys264Glu missense ANKRD2 1 83212 1.20175E-5 41606 0 NA
10-99342440-A-G p.Asp272Gly missense ANKRD2 7 83190 8.41447E-5 41595 0 7.41742E-5
10-99342453-G-T p.Lys276Asn missense ANKRD2 4 83120 4.81232E-5 41560 0 3.18552E-5
10-99342456-C-T p.Asn277Asn synonymous ANKRD2 2 83082 2.40726E-5 41541 0 NA
10-99343335-A-G p.Ala279Ala splice_region+synonymous ANKRD2 297 79056 0.00375683 39528 1 0.00783939
10-99343346-C-T p.Pro283Leu missense ANKRD2 3 79252 3.78539E-5 39626 0 6.25E-4
10-99343346-C-G p.Pro283Arg missense ANKRD2 2 79252 2.5236E-5 39626 0 1.68594E-5
10-99343347-G-A p.Pro283Pro synonymous ANKRD2 2 79238 2.52404E-5 39619 0 8.83377E-6
10-99343349-C-T p.Thr284Met missense ANKRD2 2 79320 2.52143E-5 39660 0 3.27107E-5
10-99343350-G-T p.Thr284Thr synonymous ANKRD2 8 79308 1.00873E-4 39654 0 0.00153374
10-99343350-G-A p.Thr284Thr synonymous ANKRD2 3 79308 3.78272E-5 39654 0 4.8528E-5
10-99343355-T-C p.Leu286Pro missense ANKRD2 1 79592 1.25641E-5 39796 0 NA
10-99343358-T-A p.Val287Glu missense ANKRD2 1 79622 1.25593E-5 39811 0 NA
10-99343362-G-C p.Gln288His missense ANKRD2 3 79728 3.76279E-5 39864 0 6.37267E-5
10-99343370-A-T p.Gln291Leu missense ANKRD2 12 79888 1.5021E-4 39944 0 1.01653E-4
10-99343381-C-T p.Arg295Trp missense ANKRD2 1 79984 1.25025E-5 39992 0 4.33392E-5
10-99343382-G-A p.Arg295Gln missense ANKRD2 2 79954 2.50144E-5 39977 0 6.37592E-5
10-99343390-C-T p.Leu298Leu synonymous ANKRD2 2 80296 2.49078E-5 40148 0 3.88353E-5
10-99343406-C-T p.Pro303Leu missense ANKRD2 4 80622 4.96142E-5 40311 0 2.45491E-4
10-99343407-G-A p.Pro303Pro synonymous ANKRD2 2 80680 2.47893E-5 40340 0 6.42938E-5
10-99343412-C-T p.Ala305Val missense ANKRD2 3 80738 3.71572E-5 40369 0 2.49719E-5
10-99343415-A-G p.Glu306Gly missense ANKRD2 1 80774 1.23802E-5 40387 0 5.06073E-4
10-99343417-C-T p.His307Tyr missense ANKRD2 1 80832 1.23713E-5 40416 0 NA
10-99343422-C-T p.Asn308Asn synonymous ANKRD2 2 80926 2.47139E-5 40463 0 9.56633E-5
10-99343424-G-A p.Gly309Glu missense ANKRD2 1 80966 1.23509E-5 40483 0 8.55879E-6
10-99343425-G-T p.Gly309Gly synonymous ANKRD2 3 80976 3.7048E-5 40488 0 1.17275E-5
10-99343431-G-A p.Glu311Glu synonymous ANKRD2 1 81264 1.23056E-5 40632 0 1.29701E-5
10-99343449-G-A p.Gly317Gly synonymous ANKRD2 5 81466 6.13753E-5 40733 0 1.05038E-4
10-99343450-C-T p.Arg318* stop_gained ANKRD2 1 81464 1.22754E-5 40732 0 6.38284E-5
10-99343451-G-A p.Arg318Gln missense ANKRD2 1 81518 1.22672E-5 40759 0 2.08908E-5
10-99343466-C-T p.Pro323Leu missense ANKRD2 1 81542 1.22636E-5 40771 0 1.04204E-5
10-99343468-G-A p.Val324Met missense ANKRD2 1 81484 1.22723E-5 40742 0 2.08134E-5
10-99343475-C-A p.Ala326Asp missense ANKRD2 1 81366 1.22901E-5 40683 0 NA