Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-241419034-A-C p.Phe940Val missense ANKMY1 4 82940 4.82276E-5 41470 0 6.37592E-5
2-241419040-C-A p.Glu938* stop_gained ANKMY1 1 82958 1.20543E-5 41479 0 1.65071E-5
2-241419047-C-T p.Arg935Arg synonymous ANKMY1 1 82888 1.20645E-5 41444 0 5.03525E-4
2-241419055-C-T p.Val933Ile missense ANKMY1 1 82754 1.2084E-5 41377 0 NA
2-241419060-T-G p.Glu931Ala missense ANKMY1 1 82552 1.21136E-5 41276 0 NA
2-241419067-G-C p.Gln929Glu missense ANKMY1 1 82468 1.21259E-5 41234 0 NA
2-241419074-T-C c.2780-2A>G splice_acceptor ANKMY1 1 82132 1.21755E-5 41066 0 NA
2-241420346-C-T c.2779+8G>A splice_region ANKMY1 1 82618 1.21039E-5 41309 0 3.99757E-6
2-241420347-G-A c.2779+7C>T splice_region ANKMY1 2 82690 2.41867E-5 41345 0 8.30427E-6
2-241420354-C-T p.Val927Met missense+splice_region ANKMY1 1 82866 1.20677E-5 41433 0 8.28446E-6
2-241420355-G-A p.Ile926Ile splice_region+synonymous ANKMY1 8 82888 9.65158E-5 41444 0 0.00125
2-241420359-G-A p.Ala925Val missense ANKMY1 1 82958 1.20543E-5 41479 0 7.97754E-6
2-241420363-C-T p.Val924Met missense ANKMY1 2 82996 2.40975E-5 41498 0 1.5944E-5
2-241420370-C-T p.Gly921Gly synonymous ANKMY1 5 83078 6.01844E-5 41539 0 NA
2-241420372-C-T p.Gly921Arg missense ANKMY1 2 83118 2.40622E-5 41559 0 3.58406E-5
2-241420373-G-A p.Cys920Cys synonymous ANKMY1 503 83106 0.00605251 41553 2 0.00707786
2-241420373-G-T p.Cys920* stop_gained ANKMY1 1 83110 1.20322E-5 41555 0 3.98289E-6
2-241420376-G-A p.Asp919Asp synonymous ANKMY1 6 83148 7.21605E-5 41574 0 3.18532E-5
2-241420378-CCTT-C p.Lys918del conservative_inframe_deletion ANKMY1 5 83158 6.01265E-5 41579 0 8.25423E-6
2-241420380-T-C p.Lys918Arg missense ANKMY1 2 83176 2.40454E-5 41588 0 8.25314E-6
2-241420393-C-T p.Glu914Lys missense ANKMY1 4 83194 4.80804E-5 41597 0 6.36983E-5
2-241420394-G-C p.Thr913Thr synonymous ANKMY1 1 83198 1.20195E-5 41599 0 3.30006E-5
2-241420394-G-A p.Thr913Thr synonymous ANKMY1 1 83198 1.20195E-5 41599 0 3.18451E-5
2-241420412-G-T p.Cys907* stop_gained ANKMY1 4 83226 4.80619E-5 41613 0 2.3873E-5
2-241420413-C-T p.Cys907Tyr missense ANKMY1 1 83232 1.20146E-5 41616 0 1.19355E-5
2-241420418-C-G p.Lys905Asn missense ANKMY1 2 83234 2.40286E-5 41617 0 NA
2-241420424-G-T p.Cys903* stop_gained ANKMY1 1 83218 1.20166E-5 41609 0 NA
2-241420428-G-C p.Thr902Ser missense ANKMY1 1 83212 1.20175E-5 41606 0 NA
2-241420438-C-T p.Gly899Arg missense ANKMY1 3 83204 3.6056E-5 41602 0 5.9691E-5
2-241420439-G-A p.Tyr898Tyr synonymous ANKMY1 2 83216 2.40338E-5 41608 0 2.38783E-5
2-241420440-T-C p.Tyr898Cys missense ANKMY1 2 83216 2.40338E-5 41608 0 8.25246E-6
2-241420447-G-A p.Arg896Cys missense ANKMY1 5 83216 6.00846E-5 41608 0 6.25E-4
2-241420449-G-A p.Pro895Leu missense ANKMY1 4 83206 4.80735E-5 41603 0 2.54826E-4
2-241420451-G-A p.Cys894Cys synonymous ANKMY1 3 83202 3.60568E-5 41601 0 1.59199E-5
2-241420460-G-C p.Leu891Leu synonymous ANKMY1 15 83182 1.80327E-4 41591 0 6.37064E-5
2-241420461-A-T p.Leu891His missense ANKMY1 1 83180 1.20221E-5 41590 0 NA
2-241420464-C-T p.Arg890His missense ANKMY1 2 83162 2.40494E-5 41581 0 6.25E-4
2-241420465-G-A p.Arg890Cys missense ANKMY1 1 83152 1.20262E-5 41576 0 4.95901E-5
2-241420469-C-T p.Gly888Gly synonymous ANKMY1 4 83164 4.80977E-5 41582 0 NA
2-241420472-G-A p.Ile887Ile synonymous ANKMY1 3 83146 3.60811E-5 41573 0 8.2687E-6
2-241420480-G-C p.Arg885Gly missense ANKMY1 6 83114 7.219E-5 41557 0 6.37267E-5
2-241420480-G-A p.Arg885Cys missense ANKMY1 1 83114 1.20317E-5 41557 0 4.96508E-5
2-241420486-A-G p.Cys883Arg missense ANKMY1 2 83108 2.40651E-5 41554 0 3.9854E-6
2-241420491-T-C p.Tyr881Cys missense ANKMY1 2 83062 2.40784E-5 41531 0 7.97544E-6
2-241420514-T-TTGCCCCTGCTCCTTCACATCCAGGCCCCTGGGCAGG c.2619-1_2619insCCTGCCCAGGGGCCTGGATGTGAAGGAGCAGGGGCA splice_acceptor ANKMY1 1 82760 1.20831E-5 41380 0 NA
2-241420516-T-TCTCTTGCACAGGTACAGCCACGTGGGGTCCCACTGGCTCTCCTTG c.2619-3_2619-2insCAAGGAGAGCCAGTGGGACCCCACGTGGCTGTACCTGTGCAAGAG splice_region ANKMY1 1 82690 1.20934E-5 41345 0 NA
2-241420517-G-T c.2619-3C>A splice_region ANKMY1 1 82630 1.21021E-5 41315 0 8.39166E-6
2-241421599-C-T c.2618+1G>A splice_donor ANKMY1 14 82888 1.68903E-4 41444 0 2.71941E-4
2-241421608-C-T p.Glu870Glu synonymous ANKMY1 29 83012 3.49347E-4 41506 0 9.55353E-4
2-241421629-G-A p.Pro863Pro synonymous ANKMY1 4 83084 4.8144E-5 41542 0 8.00269E-6
2-241421643-CCTT-C p.Lys858del conservative_inframe_deletion ANKMY1 13 83084 1.56468E-4 41542 0 1.23752E-4
2-241421645-T-C p.Lys858Arg missense ANKMY1 1 83082 1.20363E-5 41541 0 4.00182E-6
2-241421646-T-A p.Lys858* stop_gained ANKMY1 2 83082 2.40726E-5 41541 0 NA
2-241421647-C-T p.Lys857Lys synonymous ANKMY1 3 83082 3.61089E-5 41541 0 NA
2-241421656-C-T p.Arg854Arg synonymous ANKMY1 505 83012 0.00608346 41506 7 0.00610119
2-241421656-C-G p.Arg854Ser missense ANKMY1 1 83038 1.20427E-5 41519 0 NA
2-241421666-G-A p.Pro851Leu missense ANKMY1 1 82972 1.20523E-5 41486 0 NA
2-241421668-GA-G p.Ile850fs frameshift ANKMY1 1 82938 1.20572E-5 41469 0 4.00673E-6
2-241421677-C-G p.Ala847Ala splice_region+synonymous ANKMY1 3 82718 3.62678E-5 41359 0 3.18512E-5
2-241421677-C-T p.Ala847Ala splice_region+synonymous ANKMY1 3 82718 3.62678E-5 41359 0 5.04032E-4
2-241421678-G-A p.Ala847Val missense+splice_region ANKMY1 5 82640 6.05034E-5 41320 0 6.36943E-5
2-241421685-GA-TT c.2540-8_2540-7delTCinsAA splice_region ANKMY1 1 82592 1.21077E-5 41296 0 NA
2-241439370-C-T c.2539+5G>A splice_region ANKMY1 34 80778 4.20907E-4 40389 0 6.38081E-4
2-241439374-C-T c.2539+1G>A splice_donor ANKMY1 1 81026 1.23417E-5 40513 0 NA
2-241439377-C-T p.Arg846Lys missense+splice_region ANKMY1 1 81160 1.23213E-5 40580 0 9.15231E-6
2-241439377-C-G p.Arg846Thr missense+splice_region ANKMY1 1 81160 1.23213E-5 40580 0 NA
2-241439378-T-C p.Arg846Gly missense ANKMY1 1 81164 1.23207E-5 40582 0 NA
2-241439380-T-G p.Lys845Thr missense ANKMY1 1 81238 1.23095E-5 40619 0 NA
2-241439389-T-G p.Tyr842Ser missense ANKMY1 3 81410 3.68505E-5 40705 0 3.19122E-5
2-241439390-A-T p.Tyr842Asn missense ANKMY1 2 81474 2.45477E-5 40737 0 NA
2-241439391-C-G p.Val44Leu missense ANKMY1 2 81492 2.45423E-5 40746 0 NA
2-241439394-C-CA p.Trp840fs frameshift ANKMY1 1 81564 1.22603E-5 40782 0 NA
2-241439396-ACGTGG-A p.Pro838fs frameshift ANKMY1 1 81608 1.22537E-5 40804 0 NA
2-241439397-C-T p.Val42Met missense ANKMY1 4 81606 4.9016E-5 40803 0 3.62059E-5
2-241439398-G-A p.Thr839Met missense ANKMY1 2 81690 2.44828E-5 40845 0 3.19061E-5
2-241439403-G-A p.Pro40Ser missense ANKMY1 6 81812 7.33389E-5 40906 0 3.61571E-5
2-241439404-TCCC-T p.Trp836_Asp837delinsTyr disruptive_inframe_deletion ANKMY1 1 81790 1.22264E-5 40895 0 NA
2-241439409-CT-C p.Gln835fs frameshift ANKMY1 1 81952 1.22023E-5 40976 0 NA
2-241439411-G-A p.Gln835* stop_gained ANKMY1 1 81992 1.21963E-5 40996 0 NA
2-241439438-G-A p.Arg826Trp missense ANKMY1 2 82326 2.42937E-5 41163 0 3.18837E-5
2-241439440-A-G p.Leu825Pro missense ANKMY1 1 82312 1.21489E-5 41156 0 NA
2-241439449-C-T p.Gly822Asp missense ANKMY1 4 82322 4.85897E-5 41161 0 3.18918E-5
2-241439451-C-G p.Met821Ile missense ANKMY1 1 82326 1.21468E-5 41163 0 NA
2-241439452-A-G p.Met821Thr missense ANKMY1 2 82304 2.43002E-5 41152 0 4.01564E-6
2-241439457-C-A p.Glu819Asp missense ANKMY1 1 82236 1.21601E-5 41118 0 4.02573E-6
2-241439467-C-G p.Arg816Pro missense ANKMY1 2 82328 2.42931E-5 41164 0 2.4156E-5
2-241439468-G-A p.Arg816Trp missense ANKMY1 3 82306 3.64493E-5 41153 0 3.18918E-5
2-241439473-C-T p.Arg814Gln missense ANKMY1 4 82346 4.85755E-5 41173 0 2.23214E-4
2-241439474-G-A p.Arg814Trp missense ANKMY1 2 82314 2.42972E-5 41157 0 0.00151362
2-241439475-C-T p.Ala16Thr missense ANKMY1 5 82310 6.0746E-5 41155 0 6.51538E-4
2-241439476-G-A p.Ala813Val missense ANKMY1 1 82304 1.21501E-5 41152 0 6.25E-4
2-241439480-G-A p.Pro14Leu missense ANKMY1 2 82298 2.43019E-5 41149 0 NA
2-241439481-G-A p.Pro14Ser missense ANKMY1 1 82272 1.21548E-5 41136 0 NA
2-241439484-C-T p.Val13Ile missense ANKMY1 2 82250 2.43161E-5 41125 0 2.53925E-4
2-241439487-C-A p.Glu809Asp missense ANKMY1 20 82232 2.43214E-4 41116 0 0.00655242
2-241439489-C-T p.Glu809Lys missense ANKMY1 1 82186 1.21675E-5 41093 0 5.04032E-4
2-241439490-G-A p.Arg11* stop_gained ANKMY1 2 82132 2.4351E-5 41066 0 2.86723E-5
2-241439490-G-C p.Arg11Gly missense ANKMY1 1 82132 1.21755E-5 41066 0 NA
2-241439491-C-T p.Arg808His missense ANKMY1 6 82104 7.3078E-5 41052 0 6.25E-4
2-241439492-G-A p.Arg808Cys missense ANKMY1 3 82072 3.65533E-5 41036 0 6.38121E-5
2-241439493-C-T p.Ala10Thr missense ANKMY1 1 82098 1.21806E-5 41049 0 1.63867E-5
2-241439500-G-A p.Pro805Leu missense ANKMY1 1 82014 1.2193E-5 41007 0 4.11147E-6
2-241439502-C-T p.Met804Ile missense ANKMY1 5 82010 6.09682E-5 41005 0 4.61233E-5
2-241439508-C-T p.Ala5Thr missense ANKMY1 1 81882 1.22127E-5 40941 0 1.19067E-5
2-241439525-G-A p.Arg797Cys missense ANKMY1 281 81666 0.00344084 40833 1 0.00454545
2-241439536-C-T p.Arg793Gln missense ANKMY1 2 81488 2.45435E-5 40744 0 1.34808E-5
2-241439537-G-A p.Arg793Trp missense ANKMY1 47 81446 5.77069E-4 40723 0 0.00252072
2-241439543-G-GGAAGAATCTGAAGTAGC c.2374-4_2374-3insGCTACTTCAGATTCTTC splice_region ANKMY1 1 81332 1.22953E-5 40666 0 NA
2-241439543-G-GGAAGAATCTGAAGTAGCCATAGTCCA c.2374-4_2374-3insTGGACTATGGCTACTTCAGATTCTTC splice_region ANKMY1 2 81332 2.45906E-5 40666 1 NA
2-241439543-G-GGAAGAATCTGAAGTAGCCATAGTCCACGGCTGTGCCCACTGCCTCCTTTT c.2374-4_2374-3insAAAAGGAGGCAGTGGGCACAGCCGTGGACTATGGCTACTTCAGATTCTTC splice_region ANKMY1 2 81332 2.45906E-5 40666 1 NA
2-241439544-C-T c.2374-4G>A splice_region ANKMY1 9 81252 1.10767E-4 40626 0 6.18429E-4
2-241439884-G-A p.Tyr786Tyr synonymous ANKMY1 1 83022 1.2045E-5 41511 0 NA
2-241439887-G-A p.Gly785Gly synonymous ANKMY1 2 83080 2.40732E-5 41540 0 NA
2-241439889-C-T p.Gly785Ser missense ANKMY1 1 83094 1.20346E-5 41547 0 8.25955E-6
2-241439890-A-G p.Tyr784Tyr synonymous ANKMY1 16 83110 1.92516E-4 41555 0 2.23001E-4
2-241439892-A-C p.Tyr784Asp missense ANKMY1 1 83114 1.20317E-5 41557 0 7.96311E-6
2-241439898-C-T p.Val782Met missense ANKMY1 6 83132 7.21744E-5 41566 0 3.18492E-5
2-241439903-G-A p.Thr780Ile missense ANKMY1 1 83164 1.20244E-5 41582 0 8.24538E-6
2-241439915-T-TC p.Glu776fs frameshift ANKMY1 1 83176 1.20227E-5 41588 0 NA
2-241439949-G-T p.Leu765Met missense ANKMY1 3 83100 3.61011E-5 41550 0 3.29881E-5
2-241439955-C-T p.Asp763Asn missense ANKMY1 45 83020 5.42038E-4 41510 1 5.03525E-4
2-241439956-G-A p.Ala762Ala synonymous ANKMY1 129 83014 0.00155395 41507 1 0.00340829
2-241439957-G-A p.Ala762Val missense ANKMY1 1 82994 1.20491E-5 41497 0 NA
2-241439958-C-A p.Ala762Ser missense ANKMY1 1 83000 1.20482E-5 41500 0 8.2511E-6
2-241439961-C-T p.Gly761Arg missense ANKMY1 2 82964 2.41068E-5 41482 0 6.25E-4
2-241439975-C-T p.Arg756Gln missense ANKMY1 1 82746 1.20852E-5 41373 0 4.13462E-5
2-241439976-G-A p.Arg756* stop_gained ANKMY1 7 82700 8.46433E-5 41350 1 9.92408E-5
2-241439990-G-A c.2260-8C>T splice_region ANKMY1 5 82310 6.0746E-5 41155 0 3.18471E-5
2-241446997-T-C p.Met747Val missense ANKMY1 8 82750 9.66767E-5 41375 0 3.18634E-4
2-241446999-T-C p.Asn746Ser missense ANKMY1 2 82762 2.41657E-5 41381 0 3.18613E-5
2-241447012-C-T p.Glu742Lys missense ANKMY1 2 82850 2.414E-5 41425 0 6.3743E-5
2-241447013-G-A p.Tyr741Tyr synonymous ANKMY1 2 82866 2.41354E-5 41433 0 2.00853E-5
2-241447020-A-G p.Leu739Pro missense ANKMY1 1 82910 1.20613E-5 41455 0 2.81021E-5
2-241447034-A-G p.Cys734Cys synonymous ANKMY1 4 82972 4.8209E-5 41486 0 2.48357E-5
2-241447037-C-T p.Leu733Leu synonymous ANKMY1 119 82972 0.00143422 41486 0 0.0024527
2-241447038-A-G p.Leu733Pro missense ANKMY1 2 82974 2.41039E-5 41487 0 1.65585E-5
2-241447044-C-A p.Ser731Ile missense ANKMY1 1 82964 1.20534E-5 41482 0 NA
2-241447051-A-G p.Leu729Leu synonymous ANKMY1 1 82972 1.20523E-5 41486 0 NA
2-241447053-C-G p.Gly728Ala missense ANKMY1 1 82992 1.20494E-5 41496 0 NA
2-241447053-C-A p.Gly728Val missense ANKMY1 1 82992 1.20494E-5 41496 0 NA
2-241447074-G-C p.Pro721Arg missense ANKMY1 1 82890 1.20642E-5 41445 0 3.18451E-5
2-241447078-C-T p.Asp720Asn missense ANKMY1 4 82860 4.82742E-5 41430 0 NA
2-241447080-G-A p.Ala719Val missense ANKMY1 1 82836 1.2072E-5 41418 0 NA
2-241447088-G-A p.Thr716Thr synonymous ANKMY1 1 82804 1.20767E-5 41402 0 NA
2-241447101-T-C p.Lys712Arg missense ANKMY1 1 82614 1.21045E-5 41307 0 NA
2-241447108-C-T p.Val710Ile missense+splice_region ANKMY1 4 82434 4.85237E-5 41217 0 2.57052E-5
2-241447110-TGAA-AGCT c.2128-5_2128-2delTTCAinsAGCT splice_acceptor ANKMY1 4 82396 4.8546E-5 41198 0 NA
2-241448765-C-A p.Leu709Leu splice_region+synonymous ANKMY1 1 82458 1.21274E-5 41229 0 5.04541E-4
2-241448770-C-T p.Glu708Lys missense ANKMY1 1 82566 1.21115E-5 41283 0 NA
2-241448772-T-C p.Asn707Ser missense ANKMY1 3 82574 3.63311E-5 41287 0 3.18979E-5
2-241448773-T-C p.Asn707Asp missense ANKMY1 1 82580 1.21095E-5 41290 0 8.89632E-6
2-241448780-G-A p.Ala704Ala synonymous ANKMY1 1 82696 1.20925E-5 41348 0 8.72357E-6
2-241448782-C-T p.Ala704Thr missense ANKMY1 1 82692 1.20931E-5 41346 0 3.99543E-6
2-241448784-A-G p.Ile703Thr missense ANKMY1 1 82688 1.20937E-5 41344 0 2.60426E-5
2-241448786-G-T p.Ser702Ser synonymous ANKMY1 1 82744 1.20855E-5 41372 0 NA
2-241448789-C-T p.Leu701Leu synonymous ANKMY1 1 82728 1.20878E-5 41364 0 NA
2-241448790-AG-A p.Leu701fs frameshift ANKMY1 1 82728 1.20878E-5 41364 0 NA
2-241448798-C-T p.Pro698Pro synonymous ANKMY1 382 82634 0.00462279 41317 2 0.00806452
2-241448799-G-A p.Pro698Leu missense ANKMY1 3 82714 3.62696E-5 41357 0 6.25E-4
2-241448799-G-C p.Pro698Arg missense ANKMY1 1 82714 1.20899E-5 41357 0 3.99033E-6
2-241448807-G-A p.Gly695Gly synonymous ANKMY1 10 82748 1.20849E-4 41374 0 6.38081E-5
2-241448808-C-G p.Gly695Ala missense ANKMY1 1 82738 1.20863E-5 41369 0 8.58826E-6
2-241448817-A-G p.Leu692Pro missense ANKMY1 3 82770 3.6245E-5 41385 0 1.7209E-5
2-241448821-G-A p.Leu691Leu synonymous ANKMY1 1 82778 1.20805E-5 41389 0 1.7256E-5
2-241448836-C-T p.Gly686Arg missense ANKMY1 3 82726 3.62643E-5 41363 0 1.59735E-5
2-241448837-G-A p.His685His synonymous ANKMY1 5 82726 6.04405E-5 41363 0 9.81722E-5
2-241448839-G-A p.His685Tyr missense ANKMY1 1 82750 1.20846E-5 41375 0 9.00674E-6
2-241448846-A-G p.Leu682Leu synonymous ANKMY1 1 82682 1.20945E-5 41341 0 3.19203E-5
2-241448854-G-A p.Arg680Trp missense ANKMY1 92 82574 0.00111415 41287 0 0.00185138
2-241448870-A-G p.Cys674Cys splice_region+synonymous ANKMY1 25 82384 3.03457E-4 41192 0 8.61519E-4
2-241448880-G-A c.2020-8C>T splice_region ANKMY1 1 82138 1.21746E-5 41069 0 NA
2-241451277-C-T c.2019+1G>A splice_donor ANKMY1 5 80078 6.24391E-5 40039 0 NA
2-241451286-C-G p.Asp671His missense ANKMY1 2 80484 2.48497E-5 40242 0 NA
2-241451290-C-T p.Glu669Glu synonymous ANKMY1 1 80646 1.23999E-5 40323 0 NA
2-241451294-C-T p.Arg668Gln missense ANKMY1 9 80828 1.11348E-4 40414 0 4.78109E-4
2-241451295-G-A p.Arg668Trp missense ANKMY1 1 80790 1.23778E-5 40395 0 8.81477E-6
2-241451297-T-C p.Glu667Gly missense ANKMY1 1 80906 1.236E-5 40453 0 NA
2-241451298-C-T p.Glu667Lys missense ANKMY1 1 80980 1.23487E-5 40490 0 8.76148E-6
2-241451317-C-T p.Thr660Thr synonymous ANKMY1 3 81704 3.67179E-5 40852 0 1.34477E-5
2-241451318-G-A p.Thr660Met missense ANKMY1 9 81760 1.10078E-4 40880 0 7.57729E-4
2-241451323-G-GC p.Arg659fs frameshift ANKMY1 2 81886 2.44242E-5 40943 1 8.41E-6
2-241451327-C-T p.Gly657Glu missense ANKMY1 1 81978 1.21984E-5 40989 0 8.39828E-6
2-241451327-C-G p.Gly657Ala missense ANKMY1 1 81978 1.21984E-5 40989 0 3.18735E-5
2-241451328-C-A p.Gly657Trp missense ANKMY1 3 82020 3.65764E-5 41010 0 1.6796E-5
2-241451329-C-G p.Glu656Asp missense ANKMY1 7 82044 8.53201E-5 41022 0 2.54923E-4
2-241451332-C-T p.Glu655Glu synonymous ANKMY1 1 82022 1.21919E-5 41011 0 3.18634E-5
2-241451335-C-T p.Pro654Pro synonymous ANKMY1 1 82048 1.2188E-5 41024 0 3.18593E-5
2-241451336-G-A p.Pro654Leu missense ANKMY1 6 82060 7.31172E-5 41030 0 1.67667E-4
2-241451346-T-C p.Thr651Ala missense ANKMY1 1 82310 1.21492E-5 41155 0 NA
2-241451347-G-A p.Asp650Asp synonymous ANKMY1 1 82326 1.21468E-5 41163 0 NA
2-241451350-C-T p.Thr649Thr synonymous ANKMY1 11331 82056 0.138089 41028 882 0.13337
2-241451350-CG-TA p.Thr649Ile missense ANKMY1 3 82330 3.64387E-5 41165 0 NA
2-241451351-G-A p.Thr649Met missense ANKMY1 10999 82062 0.134033 41031 895 0.183972
2-241451364-C-G p.Ala645Pro missense ANKMY1 1 82394 1.21368E-5 41197 0 6.3743E-5
2-241451367-G-C p.Gln644Glu missense ANKMY1 60 82374 7.28385E-4 41187 0 5.04032E-4
2-241451375-C-T p.Gly641Asp missense ANKMY1 1 82256 1.21572E-5 41128 0 NA
2-241451379-GCT-ATC p.GluPro639GlySer missense ANKMY1 2 82252 2.43155E-5 41126 0 NA
2-241451383-A-G p.Asn638Asn synonymous ANKMY1 1 82242 1.21592E-5 41121 0 NA
2-241451384-T-C p.Asn638Ser missense ANKMY1 1 82248 1.21584E-5 41124 0 8.37044E-6
2-241451385-T-A p.Asn638Tyr missense ANKMY1 1 82236 1.21601E-5 41118 0 NA
2-241451386-G-T p.Ser637Arg missense ANKMY1 2 82196 2.43321E-5 41098 0 5.05107E-6
2-241451404-G-A p.Pro631Pro synonymous ANKMY1 1 81830 1.22205E-5 40915 0 3.60903E-5
2-241451413-G-T p.Asp628Glu missense ANKMY1 1 81484 1.22723E-5 40742 0 NA
2-241451419-C-T c.1879-1G>A splice_acceptor ANKMY1 3 81216 3.69385E-5 40608 0 NA
2-241451420-T-TTGCCGGGCTTGTAAGTGTCGTCCTC c.1879-3_1879-2insGAGGACGACACTTACAAGCCCGGCA splice_region ANKMY1 1 81170 1.23198E-5 40585 0 NA
2-241451420-T-TTGCCGGGCTTGTAAGTGTCGTCCTCGTCGGATGCCTTG c.1879-3_1879-2insCAAGGCATCCGACGAGGACGACACTTACAAGCCCGGCA splice_region ANKMY1 1 81170 1.23198E-5 40585 0 NA
2-241451424-TA-T c.1879-7delT splice_region ANKMY1 1 80936 1.23554E-5 40468 0 NA
2-241452212-T-C c.1878+7A>G splice_region ANKMY1 52661 81682 0.644708 40841 17119 0.696875
2-241452213-A-G c.1878+6T>C splice_region ANKMY1 2 82964 2.41068E-5 41482 0 NA
2-241452218-C-T c.1878+1G>A splice_donor ANKMY1 1 82990 1.20496E-5 41495 0 8.35059E-6
2-241452224-C-T p.Gly625Ser missense ANKMY1 1 83012 1.20465E-5 41506 0 9.18565E-5
2-241452225-G-A p.Pro624Pro synonymous ANKMY1 1 83028 1.20441E-5 41514 0 2.39777E-5
2-241452226-G-T p.Pro624His missense ANKMY1 1 83044 1.20418E-5 41522 0 3.99367E-6
2-241452230-TGTAA-T p.Tyr622fs frameshift ANKMY1 1 83072 1.20378E-5 41536 0 8.33778E-6
2-241452231-G-T p.Tyr622* stop_gained ANKMY1 1 83068 1.20383E-5 41534 0 1.79576E-4
2-241452233-A-T p.Tyr622Asn missense ANKMY1 1 83076 1.20372E-5 41538 0 NA
2-241452236-T-C p.Thr621Ala missense ANKMY1 7 83068 8.42683E-5 41534 0 9.16911E-5
2-241452240-G-A p.Asp619Asp synonymous ANKMY1 4 83078 4.81475E-5 41539 0 1.83398E-4
2-241452245-C-T p.Glu618Lys missense ANKMY1 1 83072 1.20378E-5 41536 0 0.00100705
2-241452246-G-A p.Asp617Asp synonymous ANKMY1 4 83064 4.81556E-5 41532 0 1.11696E-4
2-241452248-C-T p.Asp617Asn missense ANKMY1 3 83068 3.6115E-5 41534 0 3.98915E-6
2-241452249-G-A p.Ser616Ser synonymous ANKMY1 3 83086 3.61072E-5 41543 0 3.18532E-5
2-241452252-T-C p.Ala615Ala synonymous ANKMY1 1 83092 1.20349E-5 41546 0 8.33208E-6
2-241452258-G-A p.Ala613Ala synonymous ANKMY1 2 83082 2.40726E-5 41541 0 NA
2-241452260-C-T p.Ala613Thr missense ANKMY1 1 83068 1.20383E-5 41534 0 3.18512E-5
2-241452261-G-A p.Asp612Asp synonymous ANKMY1 8 83074 9.62997E-5 41537 0 1.83379E-4
2-241452270-G-A p.Thr609Thr synonymous ANKMY1 14 83080 1.68512E-4 41540 0 1.08368E-4
2-241452293-C-T p.Glu602Lys missense ANKMY1 7 82996 8.43414E-5 41498 0 3.18431E-5
2-241452295-A-G p.Val601Ala missense ANKMY1 1 82986 1.20502E-5 41493 0 NA
2-241452305-C-A p.Val598Leu missense ANKMY1 11 82930 1.32642E-4 41465 0 1.00442E-4
2-241452308-C-T p.Gly597Arg missense ANKMY1 1 82932 1.20581E-5 41466 0 3.34806E-5
2-241452309-C-CT p.Val598fs frameshift ANKMY1 2 82922 2.41191E-5 41461 0 3.59577E-5
2-241452316-C-T p.Gly594Glu missense ANKMY1 1 82890 1.20642E-5 41445 0 NA
2-241452326-C-T p.Ala591Thr missense ANKMY1 2 82848 2.41406E-5 41424 0 4.19555E-5
2-241452327-G-A p.Ala590Ala synonymous ANKMY1 6 82850 7.242E-5 41425 0 3.35768E-4
2-241452332-C-A p.Ala589Ser missense ANKMY1 1 82798 1.20776E-5 41399 0 NA
2-241452332-C-T p.Ala589Thr missense ANKMY1 3 82798 3.62328E-5 41399 0 5.87889E-5
2-241452333-G-A p.Ile588Ile synonymous ANKMY1 3 82798 3.62328E-5 41399 0 0.00100705
2-241452335-T-A p.Ile588Phe missense ANKMY1 11 82798 1.32853E-4 41399 0 1.68047E-4
2-241452343-G-A p.Pro585Leu missense ANKMY1 1 82744 1.20855E-5 41372 0 NA
2-241452352-G-A p.Thr582Ile missense ANKMY1 1 82674 1.20957E-5 41337 0 3.37257E-5
2-241452360-C-T c.1738-1G>A splice_acceptor ANKMY1 2 82620 2.42072E-5 41310 0 NA
2-241459528-T-G c.1315-2A>C splice_acceptor ANKMY1 2 64472 3.10212E-5 32236 0 NA
2-241459531-G-A c.1315-5C>T splice_region ANKMY1 2 64742 3.08918E-5 32371 0 3.35175E-5
2-241459531-G-GA c.1315-6_1315-5insT splice_region ANKMY1 1 64742 1.54459E-5 32371 0 6.05547E-5
2-241459774-C-T c.1737+5G>A splice_region ANKMY1 3 77488 3.87157E-5 38744 0 NA
2-241459779-C-T p.Gln579Gln splice_region+synonymous ANKMY1 10 77780 1.28568E-4 38890 0 0.00113339
2-241459784-G-A p.Pro578Ser missense ANKMY1 1 77922 1.28333E-5 38961 0 7.5861E-5
2-241459785-C-A p.Pro577Pro synonymous ANKMY1 2 77954 2.56562E-5 38977 0 6.18009E-6
2-241459787-G-T p.Pro577Thr missense ANKMY1 7 78220 8.94912E-5 39110 0 6.74218E-5
2-241459794-G-A p.Ile574Ile synonymous ANKMY1 2 78728 2.54039E-5 39364 0 NA
2-241459796-TGTCG-T p.Asp573fs frameshift ANKMY1 1 78826 1.26862E-5 39413 0 NA
2-241459798-TC-T p.Asp573fs frameshift ANKMY1 1 78892 1.26756E-5 39446 0 NA
2-241459800-G-A p.Thr572Thr synonymous ANKMY1 2 79042 2.5303E-5 39521 0 5.37051E-5
2-241459802-T-A p.Thr572Ser missense ANKMY1 1 79120 1.2639E-5 39560 0 9.56755E-5
2-241459802-TCCTCG-T p.Ala570fs frameshift ANKMY1 1 79120 1.2639E-5 39560 0 NA
2-241459807-G-GC p.Ala570fs frameshift ANKMY1 1 79354 1.26018E-5 39677 0 NA
2-241459809-C-T p.Gly569Gly synonymous ANKMY1 1 79568 1.25679E-5 39784 0 NA
2-241459811-C-G p.Gly569Arg missense ANKMY1 3 79648 3.76657E-5 39824 0 3.29251E-5
2-241459812-G-A p.His568His synonymous ANKMY1 4 79684 5.01983E-5 39842 0 1.42E-5
2-241459821-C-G p.Leu565Leu synonymous ANKMY1 2 80104 2.49675E-5 40052 0 1.92994E-4
2-241459822-A-G p.Leu565Pro missense ANKMY1 1 80192 1.24701E-5 40096 0 4.64188E-5
2-241459823-G-A p.Leu565Leu synonymous ANKMY1 2 80220 2.49314E-5 40110 0 4.56433E-5
2-241459826-G-A p.Leu564Leu synonymous ANKMY1 1 80354 1.24449E-5 40177 0 NA
2-241459830-C-T p.Val562Val synonymous ANKMY1 1 80474 1.24264E-5 40237 0 3.18634E-5
2-241459841-C-T p.Val559Met missense ANKMY1 8 80746 9.90761E-5 40373 0 7.13348E-5
2-241459848-G-A p.Ala556Ala synonymous ANKMY1 2 80840 2.47402E-5 40420 0 6.98552E-5
2-241459859-CA-C p.Ala553fs frameshift ANKMY1 1 81068 1.23353E-5 40534 0 3.18512E-5
2-241459862-G-A p.Leu552Phe missense ANKMY1 1 81142 1.23241E-5 40571 0 NA
2-241459866-C-G p.Cys336Ser missense ANKMY1 1 81172 1.23195E-5 40586 0 3.18512E-5
2-241459868-G-A p.Leu550Leu synonymous ANKMY1 4 81188 4.92684E-5 40594 0 NA
2-241459870-A-C p.Ser335Ala missense+splice_region ANKMY1 1 81140 1.23244E-5 40570 0 4.05236E-6
2-241459872-C-T c.1002-1G>A splice_acceptor ANKMY1 1 81168 1.23201E-5 40584 0 1.82236E-5
2-241459873-T-C c.1002-2A>G splice_acceptor ANKMY1 1 81150 1.23229E-5 40575 0 NA
2-241459874-G-T p.Gln548Lys missense ANKMY1 1 81148 1.23232E-5 40574 0 6.37227E-5
2-241459876-A-G p.Met547Thr missense ANKMY1 17 81128 2.09545E-4 40564 0 6.37105E-4
2-241459897-G-C p.Pro540Arg missense ANKMY1 1 80654 1.23986E-5 40327 0 3.18634E-5
2-241459905-G-GC p.Ala538fs frameshift ANKMY1 1 80298 1.24536E-5 40149 0 NA
2-241459905-G-A p.Gly537Gly synonymous ANKMY1 2 80298 2.49072E-5 40149 0 NA
2-241459908-C-T p.Arg536Arg synonymous ANKMY1 5 80282 6.22805E-5 40141 0 1.2738E-4
2-241459910-G-T p.Arg536Arg synonymous ANKMY1 2 80174 2.49457E-5 40087 0 8.11695E-6
2-241459912-C-A p.Arg535Leu missense ANKMY1 1 80036 1.24944E-5 40018 0 8.83705E-6
2-241459913-G-A p.Arg535Cys missense ANKMY1 2 79990 2.50031E-5 39995 0 2.84497E-5
2-241459931-T-A p.Thr529Ser missense ANKMY1 1 79154 1.26336E-5 39577 0 4.09202E-6
2-241459933-C-T p.Arg528Gln missense ANKMY1 1 79136 1.26365E-5 39568 0 4.09313E-6
2-241459935-C-T p.Trp527* stop_gained ANKMY1 2 79002 2.53158E-5 39501 0 NA
2-241463295-G-C c.1565+7C>G splice_region ANKMY1 3 81678 3.67296E-5 40839 0 1.27389E-4
2-241463303-C-T p.Glu522Lys missense+splice_region ANKMY1 5 81860 6.10799E-5 40930 0 4.01171E-5
2-241463304-G-A p.Ile521Ile splice_region+synonymous ANKMY1 55 81924 6.71354E-4 40962 0 6.25E-4
2-241463309-T-C p.Met520Val missense ANKMY1 1 82048 1.2188E-5 41024 0 1.68776E-5
2-241463313-C-T p.Leu518Leu synonymous ANKMY1 1 82058 1.21865E-5 41029 0 3.99891E-6
2-241463316-C-T p.Ala517Ala synonymous ANKMY1 1 82064 1.21856E-5 41032 0 3.18512E-5
2-241463317-G-A p.Ala517Val missense ANKMY1 269 82074 0.00327753 41037 2 0.00503525
2-241463323-C-T p.Arg515Lys missense ANKMY1 1 82208 1.21643E-5 41104 0 NA
2-241463326-C-T p.Arg514Gln missense ANKMY1 2 82286 2.43055E-5 41143 0 3.1839E-5
2-241463327-G-T p.Arg514Arg synonymous ANKMY1 18 82260 2.18818E-4 41130 0 2.16941E-4
2-241463327-G-A p.Arg514Trp missense ANKMY1 4 82260 4.86263E-5 41130 0 4.17195E-5
2-241463327-G-C p.Arg514Gly missense ANKMY1 6 82260 7.29395E-5 41130 0 1.19704E-5
2-241463330-T-C p.Met513Val missense ANKMY1 2 82384 2.42766E-5 41192 0 3.1839E-5
2-241463331-GGTCCCTTT-G p.Lys510fs frameshift ANKMY1 1 82394 1.21368E-5 41197 0 6.36862E-5
2-241463332-G-A p.Thr512Ile missense ANKMY1 1 82398 1.21362E-5 41199 0 1.66556E-5
2-241463340-G-A p.Asp509Asp synonymous ANKMY1 9 82456 1.09149E-4 41228 0 2.86606E-4
2-241463342-C-T p.Asp509Asn missense ANKMY1 4 82440 4.85201E-5 41220 0 5.81743E-5
2-241463343-G-A p.Phe508Phe synonymous ANKMY1 13 82450 1.57671E-4 41225 0 4.98504E-5
2-241463349-G-A p.Ser506Ser synonymous ANKMY1 1 82468 1.21259E-5 41234 0 8.30137E-6
2-241463358-C-A p.Pro503Pro synonymous ANKMY1 364 82468 0.00441383 41234 2 0.00625
2-241463358-C-T p.Pro503Pro synonymous ANKMY1 2 82482 2.42477E-5 41241 0 3.18451E-5
2-241463359-G-A p.Pro503Leu missense ANKMY1 4 82496 4.84872E-5 41248 0 3.18471E-5
2-241463360-G-A p.Pro503Ser missense ANKMY1 2 82498 2.4243E-5 41249 0 2.78827E-5
2-241463367-C-T p.Ser500Ser synonymous ANKMY1 3 82492 3.63672E-5 41246 0 6.36902E-5
2-241463368-G-A p.Ser500Leu missense ANKMY1 1 82520 1.21183E-5 41260 0 0.00100705
2-241463374-A-G p.Met498Thr missense ANKMY1 4 82542 4.84602E-5 41271 0 6.36902E-5
2-241463377-T-C p.Lys497Arg missense ANKMY1 1 82602 1.21062E-5 41301 0 3.98083E-6
2-241463388-G-T p.His493Gln missense ANKMY1 3 82640 3.6302E-5 41320 0 9.55231E-5
2-241463391-G-A p.Ser492Ser synonymous ANKMY1 2 82642 2.42008E-5 41321 0 6.36862E-5
2-241463399-C-T p.Ala490Thr missense ANKMY1 4 82638 4.84039E-5 41319 0 2.48155E-5
2-241463400-G-A p.Ser489Ser synonymous ANKMY1 6 82666 7.25812E-5 41333 0 8.35721E-5
2-241463414-T-C p.Met485Val missense ANKMY1 1 82788 1.2079E-5 41394 0 NA
2-241463418-C-A p.Gln483His missense ANKMY1 1 82806 1.20764E-5 41403 0 NA
2-241463420-G-A p.Gln483* stop_gained ANKMY1 7 82814 8.45268E-5 41407 0 7.4363E-5
2-241463421-C-T p.Ser482Ser synonymous ANKMY1 63 82808 7.60796E-4 41404 0 0.00146515
2-241463421-C-G p.Ser482Ser synonymous ANKMY1 1 82810 1.20758E-5 41405 0 1.19361E-5
2-241463422-G-A p.Ser482Leu missense ANKMY1 2 82842 2.41423E-5 41421 0 7.43494E-5
2-241463427-C-G c.724-1G>C splice_acceptor ANKMY1 2 82852 2.41394E-5 41426 0 8.25914E-6
2-241463430-G-A c.724-4C>T splice_region ANKMY1 15 82880 1.80985E-4 41440 0 9.55353E-4
2-241463432-T-C p.Ile479Val missense ANKMY1 1 82928 1.20587E-5 41464 0 3.18492E-5
2-241463441-C-T p.Asp476Asn missense ANKMY1 1 82970 1.20525E-5 41485 0 2.47606E-5
2-241463442-G-A p.Cys475Cys synonymous ANKMY1 7 82950 8.43882E-5 41475 0 1.59297E-4
2-241463453-C-A p.Val472Leu missense ANKMY1 11744 82808 0.141822 41404 864 0.18625
2-241463454-GTT-G p.Asn471fs frameshift ANKMY1 1 83026 1.20444E-5 41513 0 NA
2-241463454-G-A p.Asn471Asn synonymous ANKMY1 2 83026 2.40888E-5 41513 0 2.47464E-5
2-241463457-G-C p.Ser470Ser synonymous ANKMY1 1 83040 1.20424E-5 41520 0 NA
2-241463461-T-C p.Glu469Gly missense ANKMY1 204 83050 0.00245635 41525 10 0.00987957
2-241463470-G-A p.Thr466Met missense ANKMY1 18 83088 2.16638E-4 41544 0 1.59246E-4
2-241463487-A-T p.Ser460Arg missense ANKMY1 1 83130 1.20294E-5 41565 0 NA
2-241463494-C-T p.Arg458Gln missense ANKMY1 73 83118 8.78269E-4 41559 0 0.001875
2-241463495-G-A p.Arg458Trp missense ANKMY1 102 83124 0.00122708 41562 0 0.00302115
2-241463495-G-T p.Arg458Arg synonymous ANKMY1 4 83124 4.81209E-5 41562 0 7.15951E-5
2-241463501-T-C p.Thr456Ala missense ANKMY1 1 83128 1.20296E-5 41564 0 1.27413E-4
2-241463507-C-T p.Gly454Arg missense ANKMY1 1 83126 1.20299E-5 41563 0 3.29848E-5
2-241463513-C-T p.Val452Met missense ANKMY1 5 83110 6.01612E-5 41555 0 5.03525E-4
2-241463514-G-A p.Asp451Asp synonymous ANKMY1 14 83112 1.68447E-4 41556 0 6.25E-4
2-241463515-T-A p.Asp451Val missense ANKMY1 46 83114 5.53457E-4 41557 0 0.00186147
2-241463526-G-A p.Ser447Ser synonymous ANKMY1 4 83134 4.81151E-5 41567 0 3.97829E-5
2-241463529-T-G p.Glu446Asp missense ANKMY1 3 83126 3.60898E-5 41563 0 7.95558E-6
2-241463544-G-C p.Ser441Arg missense ANKMY1 26 83104 3.12861E-4 41552 0 2.22973E-4
2-241463551-T-C p.Lys439Arg missense ANKMY1 1 83110 1.20322E-5 41555 0 NA
2-241463552-TC-T p.Lys439fs frameshift ANKMY1 1 83116 1.20314E-5 41558 0 NA
2-241463558-A-G p.Leu437Leu synonymous ANKMY1 1 83100 1.20337E-5 41550 0 3.18532E-5
2-241463559-CG-C p.Pro436fs frameshift ANKMY1 2 83104 2.40662E-5 41552 0 NA
2-241463559-C-T p.Pro436Pro synonymous ANKMY1 1 83104 1.20331E-5 41552 0 5.03525E-4
2-241463560-G-A p.Pro436Leu missense ANKMY1 3 83098 3.6102E-5 41549 0 7.95836E-6
2-241463561-G-C p.Pro436Ala missense ANKMY1 2 83074 2.40749E-5 41537 0 3.18532E-5
2-241463565-GT-G p.Asp434fs frameshift ANKMY1 1 83078 1.20369E-5 41539 0 3.97896E-6
2-241463568-C-G p.Gly433Gly synonymous ANKMY1 21 83084 2.52756E-4 41542 2 0.0020141
2-241463594-C-G p.Asp425His missense ANKMY1 2 83082 2.40726E-5 41541 0 3.30349E-5
2-241463595-T-C p.Ile424Met missense ANKMY1 15645 82888 0.188749 41444 1605 0.317221
2-241463600-A-G p.Ser423Pro missense ANKMY1 1 83038 1.20427E-5 41519 0 3.98254E-6
2-241463600-A-AC p.Ser423fs frameshift ANKMY1 29 83038 3.49238E-4 41519 0 3.19366E-4
2-241463601-C-T p.Gly422Gly synonymous ANKMY1 2 83060 2.4079E-5 41530 0 1.91241E-4
2-241463601-C-A p.Gly422Gly synonymous ANKMY1 4 83060 4.8158E-5 41530 0 6.25E-4
2-241463606-C-G p.Gly421Arg missense ANKMY1 2 83066 2.40772E-5 41533 0 3.18471E-5
2-241463606-C-T p.Gly421Arg missense ANKMY1 1 83066 1.20386E-5 41533 0 NA
2-241463616-G-A p.Thr417Thr synonymous ANKMY1 32 83062 3.85254E-4 41531 0 2.86697E-4
2-241463633-C-T p.Gly412Ser missense ANKMY1 3 83078 3.61106E-5 41539 0 2.94565E-4
2-241463634-G-A p.Gly411Gly synonymous ANKMY1 5 83082 6.01815E-5 41541 0 5.03525E-4
2-241463639-C-T p.Glu410Lys missense ANKMY1 1239 83078 0.0149137 41539 19 0.0275
2-241463640-G-A p.His409His synonymous ANKMY1 1 83102 1.20334E-5 41551 0 4.77787E-5
2-241463654-C-T p.Val405Ile missense ANKMY1 5 83086 6.01786E-5 41543 0 9.10732E-5
2-241463655-G-A p.Arg404Arg synonymous ANKMY1 394 83086 0.00474207 41543 5 0.0089189
2-241463656-C-T p.Arg404His missense ANKMY1 1 83088 1.20354E-5 41544 0 8.36227E-5
2-241463657-G-A p.Arg404Cys missense ANKMY1 1 83094 1.20346E-5 41547 0 3.18573E-5
2-241463661-C-CA p.Pro403fs frameshift ANKMY1 1 83098 1.2034E-5 41549 0 NA
2-241463671-G-A p.Pro399Leu missense ANKMY1 1 83088 1.20354E-5 41544 0 3.5836E-5
2-241463679-C-T p.Pro396Pro synonymous ANKMY1 1 83078 1.20369E-5 41539 0 3.31406E-5
2-241463680-G-A p.Pro396Leu missense ANKMY1 5 83080 6.0183E-5 41540 0 3.58309E-5
2-241463711-G-C p.Pro386Ala missense ANKMY1 3 83032 3.61306E-5 41516 0 1.19451E-5
2-241463714-C-T p.Val385Met missense ANKMY1 1 82994 1.20491E-5 41497 0 3.18573E-5
2-241463715-G-A c.723+6C>T splice_region ANKMY1 2 82964 2.41068E-5 41482 0 3.31967E-5
2-241463723-C-T p.Glu241Lys missense+splice_region ANKMY1 2 82880 2.41313E-5 41440 0 7.96749E-6
2-241463724-A-G p.Tyr381Tyr synonymous ANKMY1 1 82864 1.2068E-5 41432 0 NA
2-241463726-A-G p.Tyr381His missense ANKMY1 2 82864 2.41359E-5 41432 0 1.19535E-5
2-241463727-G-A p.Tyr380Tyr synonymous ANKMY1 1 82858 1.20688E-5 41429 0 NA
2-241463738-C-T p.Glu377Lys missense ANKMY1 1 82716 1.20896E-5 41358 0 6.36902E-5
2-241463758-G-A p.Ser370Leu missense ANKMY1 6 82366 7.28456E-5 41183 0 3.82117E-4
2-241463785-A-C p.Phe361Cys missense ANKMY1 1 81776 1.22285E-5 40888 0 NA
2-241463794-G-A p.Pro358Leu missense ANKMY1 1 81680 1.22429E-5 40840 0 NA
2-241465096-G-A c.1068+6C>T splice_region ANKMY1 2 81644 2.44966E-5 40822 0 NA
2-241465099-T-A c.1068+3A>T splice_region ANKMY1 1 81834 1.22199E-5 40917 0 1.12128E-4
2-241465100-A-G c.1068+2T>C splice_donor ANKMY1 7 81858 8.55139E-5 40929 0 3.18776E-5
2-241465103-T-C p.Gln356Arg missense+splice_region ANKMY1 1 82018 1.21924E-5 41009 0 9.24273E-4
2-241465107-G-A p.Pro355Ser missense ANKMY1 2 82090 2.43635E-5 41045 0 3.59963E-5
2-241465121-C-T p.Arg350Gln missense ANKMY1 6 82544 7.26885E-5 41272 0 1.35634E-4
2-241465122-G-A p.Arg350Trp missense ANKMY1 3 82590 3.6324E-5 41295 0 3.18674E-5
2-241465124-T-A p.Glu349Val missense ANKMY1 1 82664 1.20972E-5 41332 0 3.98651E-6
2-241465133-T-C p.Asn346Ser missense ANKMY1 12 82850 1.4484E-4 41425 0 1.25038E-4
2-241465152-C-T p.Ala340Thr missense ANKMY1 9 82984 1.08455E-4 41492 0 6.37389E-5
2-241465153-G-A p.Pro339Pro synonymous ANKMY1 4 83002 4.81916E-5 41501 0 6.36938E-5
2-241465164-G-A p.Leu336Phe missense ANKMY1 1 83118 1.20311E-5 41559 0 NA
2-241465167-G-T p.Leu335Ile missense ANKMY1 13 83142 1.56359E-4 41571 0 2.23086E-4
2-241465186-C-T p.Thr328Thr synonymous ANKMY1 1 83198 1.20195E-5 41599 0 9.56206E-5
2-241465187-G-A p.Thr328Met missense ANKMY1 4 83208 4.80723E-5 41604 0 0.00100705
2-241465189-G-T p.Leu327Leu synonymous ANKMY1 147 83216 0.00176649 41608 1 0.00392094
2-241465189-G-A p.Leu327Leu synonymous ANKMY1 2 83224 2.40315E-5 41612 0 9.56328E-5
2-241465194-C-T p.Gly326Ser missense ANKMY1 1 83242 1.20132E-5 41621 0 NA
2-241465200-C-A p.Asp324Tyr missense ANKMY1 1 83258 1.20109E-5 41629 0 NA
2-241465210-G-A p.Asn320Asn synonymous ANKMY1 23 83258 2.7625E-4 41629 0 5.03525E-4
2-241465218-C-T p.Asp318Asn missense ANKMY1 4 83254 4.80457E-5 41627 0 2.38629E-5
2-241465219-G-A p.Ala317Ala synonymous ANKMY1 6 83238 7.20825E-5 41619 0 1.31959E-4
2-241465220-G-A p.Ala317Val missense ANKMY1 2 83242 2.40263E-5 41621 0 NA
2-241465224-C-G p.Gly316Arg missense ANKMY1 3 83250 3.6036E-5 41625 0 8.24797E-6
2-241465229-T-C p.Asp314Gly missense ANKMY1 1 83252 1.20117E-5 41626 0 8.24946E-6
2-241465234-GAGA-G p.Leu312del disruptive_inframe_deletion ANKMY1 1 83260 1.20106E-5 41630 0 NA
2-241465241-T-C p.Asn310Ser missense ANKMY1 3 83244 3.60386E-5 41622 0 1.03452E-4
2-241465241-T-G p.Asn310Thr missense ANKMY1 1 83244 1.20129E-5 41622 0 NA
2-241465251-CGTT-C p.Thr178del disruptive_inframe_deletion ANKMY1 1 83222 1.20161E-5 41611 0 NA
2-241465252-G-A p.Thr178Met missense ANKMY1 3 83222 3.60482E-5 41611 0 6.37267E-5
2-241465253-T-C p.Asn306Ser missense ANKMY1 1 83222 1.20161E-5 41611 0 8.26802E-6
2-241465256-T-C p.His305Arg missense ANKMY1 1 83216 1.20169E-5 41608 0 3.98172E-6
2-241465261-G-A p.Thr175Ile missense ANKMY1 7051 82940 0.0850133 41470 328 0.105237
2-241465652-C-T p.Ala299Ala synonymous ANKMY1 2 82660 2.41955E-5 41330 0 3.30868E-5
2-241465653-G-A p.Ala299Val missense ANKMY1 16 82668 1.93545E-4 41334 0 9.92572E-5
2-241465665-G-A p.Thr295Ile missense ANKMY1 1 82932 1.20581E-5 41466 0 NA
2-241465666-T-C p.Thr295Ala missense ANKMY1 1 82948 1.20557E-5 41474 0 8.26433E-6
2-241465677-G-A p.Ala291Val missense ANKMY1 2 83078 2.40738E-5 41539 0 NA
2-241465678-C-T p.Ala291Thr missense ANKMY1 2 83084 2.4072E-5 41542 0 6.37633E-5
2-241465679-G-A p.Asp290Asp synonymous ANKMY1 6 83094 7.22074E-5 41547 0 1.15659E-4
2-241465682-C-T p.Ala289Ala synonymous ANKMY1 25 83106 3.00821E-4 41553 0 0.0020141
2-241465683-G-A p.Ala289Val missense ANKMY1 6 83110 7.21935E-5 41555 0 5.03525E-4
2-241465687-C-T p.Val288Met missense ANKMY1 12 83148 1.44321E-4 41574 0 0.00375
2-241465688-G-A p.Asp287Asp synonymous ANKMY1 19 83162 2.2847E-4 41581 0 0.00302115
2-241465719-C-G p.Arg277Thr missense ANKMY1 2 83268 2.40188E-5 41634 0 NA
2-241465733-G-A p.His272His synonymous ANKMY1 5 83276 6.00413E-5 41638 0 5.03525E-4
2-241465745-C-A p.Glu268Asp missense ANKMY1 1 83272 1.20088E-5 41636 0 NA
2-241465749-G-A p.Ala267Val missense ANKMY1 13 83272 1.56115E-4 41636 0 0.003125
2-241465770-G-A p.Ser260Phe missense ANKMY1 1 83258 1.20109E-5 41629 0 NA
2-241465775-T-C p.Gln258Gln synonymous ANKMY1 6 83254 7.20686E-5 41627 0 7.55786E-5
2-241465779-T-C p.Glu257Gly missense ANKMY1 1 83250 1.2012E-5 41625 0 3.97788E-6
2-241465785-G-A p.Pro255Leu missense ANKMY1 40 83228 4.80608E-4 41614 0 5.03525E-4
2-241465797-G-A p.Ala251Val missense ANKMY1 41 83226 4.92634E-4 41613 0 0.00100705
2-241465804-C-A p.Gly249Cys missense ANKMY1 2 83208 2.40361E-5 41604 0 4.37578E-5
2-241465809-C-T p.Arg247His missense ANKMY1 10 83200 1.20192E-4 41600 0 7.43826E-5
2-241465815-C-T p.Gly245Glu missense ANKMY1 1 83196 1.20198E-5 41598 0 NA
2-241465828-C-T p.Ala241Thr missense ANKMY1 3 83164 3.60733E-5 41582 0 1.27494E-4
2-241465829-G-A p.Gly240Gly synonymous ANKMY1 6 83162 7.21483E-5 41581 0 9.56389E-5
2-241465834-T-C p.Met239Val missense ANKMY1 1 83154 1.20259E-5 41577 0 3.97918E-6
2-241465835-G-C p.Asn238Lys missense ANKMY1 3 83144 3.6082E-5 41572 0 3.18654E-5
2-241465844-G-A p.Thr235Thr synonymous ANKMY1 2 83114 2.40633E-5 41557 0 1.19404E-5
2-241465849-G-C p.His234Asp missense ANKMY1 1 83106 1.20328E-5 41553 0 3.98035E-6
2-241468461-TG-T p.Tyr226fs frameshift ANKMY1 1 83294 1.20057E-5 41647 0 3.9776E-6
2-241468462-G-T p.Tyr226* stop_gained ANKMY1 3 83310 3.60101E-5 41655 0 2.14348E-4
2-241468502-T-C p.Asn213Ser missense ANKMY1 37 83364 4.43837E-4 41682 0 0.0025
2-241468512-A-G p.Phe210Leu missense ANKMY1 1 83368 1.1995E-5 41684 0 NA
2-241468518-G-T p.Pro208Thr missense ANKMY1 1 83374 1.19941E-5 41687 0 3.18532E-5
2-241468519-T-C p.Glu207Glu synonymous ANKMY1 5 83374 5.99707E-5 41687 0 9.5584E-5
2-241468526-T-A p.Asp205Val missense ANKMY1 1 83388 1.19921E-5 41694 0 3.97621E-6
2-241468528-C-T p.Glu204Glu synonymous ANKMY1 1 83382 1.1993E-5 41691 0 1.9881E-5
2-241468530-C-T p.Glu204Lys missense ANKMY1 1 83388 1.19921E-5 41694 0 NA
2-241468533-C-G p.Val203Leu missense ANKMY1 2 83390 2.39837E-5 41695 0 NA
2-241468533-C-T p.Val203Ile missense ANKMY1 1 83390 1.19918E-5 41695 0 2.47093E-5
2-241468534-G-A p.Phe202Phe synonymous ANKMY1 3 83386 3.59773E-5 41693 0 3.29457E-5
2-241468537-C-T p.Pro201Pro synonymous ANKMY1 24 83384 2.87825E-4 41692 0 2.54907E-4
2-241468538-G-A p.Pro201Leu missense ANKMY1 8 83388 9.59371E-5 41694 0 6.25E-4
2-241468540-A-T p.Pro200Pro synonymous ANKMY1 2 83390 2.39837E-5 41695 0 8.23642E-6
2-241468541-G-A p.Pro200Leu missense ANKMY1 5 83390 5.99592E-5 41695 0 1.91058E-4
2-241468559-A-G p.Ile194Thr missense ANKMY1 1 83404 1.19898E-5 41702 0 1.19286E-5
2-241468562-C-T p.Arg193His missense ANKMY1 4 83406 4.79582E-5 41703 0 3.18512E-5
2-241468563-G-A p.Arg193Cys missense ANKMY1 20 83406 2.39791E-4 41703 0 5.16911E-5
2-241468563-G-T p.Arg193Ser missense ANKMY1 4 83406 4.79582E-5 41703 0 3.97624E-6
2-241468566-C-A p.Ala192Ser missense ANKMY1 1 83406 1.19895E-5 41703 0 NA
2-241468567-G-A p.Asp191Asp synonymous ANKMY1 4 83402 4.79605E-5 41701 0 2.54761E-4
2-241468571-A-G p.Leu190Pro missense ANKMY1 9 83410 1.07901E-4 41705 0 7.55485E-5
2-241468577-T-C p.Lys188Arg missense ANKMY1 1 83414 1.19884E-5 41707 0 NA
2-241468580-C-T p.Arg187His missense ANKMY1 2 83412 2.39774E-5 41706 0 2.78337E-5
2-241468581-G-A p.Arg187Cys missense ANKMY1 3 83414 3.59652E-5 41707 0 7.15723E-5
2-241468586-G-C p.Ser185Cys missense ANKMY1 2 83412 2.39774E-5 41706 0 NA
2-241468593-T-C p.Thr183Ala missense ANKMY1 1 83410 1.1989E-5 41705 0 NA
2-241468594-C-T p.Met182Ile missense ANKMY1 1 83410 1.1989E-5 41705 0 5.03525E-4
2-241468602-G-A p.Leu180Leu synonymous ANKMY1 2 83418 2.39756E-5 41709 0 1.98813E-4
2-241468605-G-T p.His179Asn missense ANKMY1 337 83410 0.00404028 41705 1 0.00375
2-241468613-T-C p.Asn176Ser missense ANKMY1 1 83422 1.19872E-5 41711 0 3.18552E-5
2-241468619-G-A p.Ser174Leu missense ANKMY1 3 83420 3.59626E-5 41710 0 5.03525E-4
2-241468624-G-A p.Val172Val synonymous ANKMY1 2 83428 2.39728E-5 41714 0 NA
2-241468626-C-G p.Val172Leu missense ANKMY1 151 83430 0.0018099 41715 1 0.00395005
2-241468627-A-G p.Tyr171Tyr synonymous ANKMY1 2 83424 2.39739E-5 41712 0 1.1929E-5
2-241468628-T-C p.Tyr171Cys missense ANKMY1 7 83424 8.39087E-5 41712 0 1.64739E-5
2-241468634-T-G p.Glu169Ala missense ANKMY1 3 83418 3.59635E-5 41709 0 2.78341E-5
2-241468635-C-T p.Glu169Lys missense ANKMY1 2 83412 2.39774E-5 41706 0 3.9763E-6
2-241468637-G-A p.Pro168Leu missense ANKMY1 2 83416 2.39762E-5 41708 0 1.98817E-5
2-241468645-C-T p.Thr165Thr synonymous ANKMY1 2 83412 2.39774E-5 41706 0 1.4828E-4
2-241468646-G-A p.Thr165Met missense ANKMY1 1 83412 1.19887E-5 41706 0 8.23778E-6
2-241468647-T-C p.Thr165Ala missense ANKMY1 1 83412 1.19887E-5 41706 0 1.27429E-4
2-241468652-T-C p.Asn163Ser missense ANKMY1 3 83404 3.59695E-5 41702 0 7.95292E-5
2-241468667-A-G p.Phe158Ser missense ANKMY1 1 83406 1.19895E-5 41703 0 9.23685E-4
2-241468670-C-T p.Arg157Gln missense ANKMY1 1 83406 1.19895E-5 41703 0 2.38605E-5
2-241468671-G-A p.Arg157Trp missense ANKMY1 344 83402 0.0041246 41701 4 0.0226586
2-241468694-T-A p.Asp149Val missense ANKMY1 2 83388 2.39843E-5 41694 0 3.9769E-6
2-241468695-C-A p.Asp149Tyr missense ANKMY1 1 83382 1.1993E-5 41691 0 NA
2-241468697-T-C p.Gln148Arg missense ANKMY1 2 83378 2.39871E-5 41689 0 3.57924E-5
2-241468697-T-TGTC p.Gly147_Gln148insArg conservative_inframe_insertion ANKMY1 1 83378 1.19936E-5 41689 0 NA
2-241468706-T-C p.Gln145Arg missense ANKMY1 2 83368 2.399E-5 41684 0 NA
2-241468709-A-T p.Leu144Gln missense ANKMY1 1 83364 1.19956E-5 41682 0 8.24008E-6
2-241468714-C-T p.Trp142* stop_gained ANKMY1 1 83356 1.19967E-5 41678 0 3.97697E-6
2-241468720-C-G p.Thr140Thr synonymous ANKMY1 2 83346 2.39964E-5 41673 0 NA
2-241468720-C-T p.Thr140Thr synonymous ANKMY1 2 83346 2.39964E-5 41673 0 5.03525E-4
2-241468721-G-A p.Thr140Met missense ANKMY1 64 83346 7.67883E-4 41673 0 0.00106309
2-241468728-C-T p.Glu138Lys missense ANKMY1 1 83330 1.20005E-5 41665 0 NA
2-241468731-C-T p.Glu137Lys missense ANKMY1 8 83328 9.60061E-5 41664 0 5.72701E-4
2-241468736-G-A p.Ser135Leu missense ANKMY1 1 83330 1.20005E-5 41665 0 NA
2-241468743-T-C p.Ser133Gly missense ANKMY1 8 83302 9.60361E-5 41651 0 NA
2-241468744-G-A p.Ile132Ile synonymous ANKMY1 4 83298 4.80204E-5 41649 0 6.37024E-5
2-241468750-G-T p.Ala130Ala synonymous ANKMY1 400 83290 0.0048025 41645 1 0.00771044
2-241468768-G-A p.Phe124Phe synonymous ANKMY1 1 83266 1.20097E-5 41633 0 NA
2-241468772-C-G p.Ser123Thr missense ANKMY1 157 83262 0.00188561 41631 0 0.00411037
2-241468791-T-C p.Arg117Gly missense ANKMY1 1 83224 1.20158E-5 41612 0 8.26228E-6
2-241468795-G-A p.Leu115Leu synonymous ANKMY1 1 83216 1.20169E-5 41608 0 3.97972E-6
2-241468797-G-T p.Leu115Ile missense ANKMY1 1 83214 1.20172E-5 41607 0 3.9794E-6
2-241468806-C-T p.Gly112Ser missense ANKMY1 2 83214 2.40344E-5 41607 0 5.78799E-5
2-241468813-G-A p.Ile109Ile synonymous ANKMY1 1 83214 1.20172E-5 41607 0 NA
2-241468829-T-C p.Lys104Arg missense ANKMY1 2 83218 2.40333E-5 41609 0 3.18674E-5
2-241468840-C-T p.Glu100Glu synonymous ANKMY1 3 83190 3.6062E-5 41595 0 1.19421E-5
2-241468858-C-G p.Val94Val synonymous ANKMY1 1 83164 1.20244E-5 41582 0 1.19484E-5
2-241468860-C-T p.Val94Met missense ANKMY1 8 83134 9.62302E-5 41567 0 0.00125
2-241468861-G-A p.Asp93Asp synonymous ANKMY1 14 83144 1.68383E-4 41572 0 0.00125
2-241468875-C-T p.Asp89Asn missense ANKMY1 1637 83064 0.0197077 41532 19 0.0241828
2-241468876-G-A p.Pro88Pro synonymous ANKMY1 3 83094 3.61037E-5 41547 0 1.27397E-4
2-241468887-C-T p.Glu85Lys missense ANKMY1 29 82984 3.49465E-4 41492 0 2.29331E-4
2-241468890-C-T p.Val84Ile missense ANKMY1 3 82940 3.61707E-5 41470 0 3.40942E-5
2-241468892-C-T p.Gly83Asp missense ANKMY1 6 82928 7.23519E-5 41464 0 5.03525E-4
2-241468894-T-C p.Pro82Pro synonymous ANKMY1 3 82924 3.61777E-5 41462 0 1.27429E-4
2-241468898-C-T p.Gly81Glu missense ANKMY1 1 82886 1.20648E-5 41443 0 4.0E-6
2-241468905-G-A p.Arg79Trp missense ANKMY1 2 82772 2.41628E-5 41386 0 2.64592E-5
2-241468907-T-C p.Gln78Arg missense ANKMY1 2 82750 2.41692E-5 41375 0 1.88622E-4
2-241468912-C-T p.Ala76Ala synonymous ANKMY1 9 82630 1.08919E-4 41315 0 5.04032E-4
2-241468913-G-A p.Ala76Val missense ANKMY1 3 82564 3.63354E-5 41282 0 4.43598E-5
2-241468914-C-T p.Ala76Thr missense ANKMY1 1 82558 1.21127E-5 41279 0 NA
2-241468918-G-A p.Tyr74Tyr synonymous ANKMY1 1 82500 1.21212E-5 41250 0 NA
2-241468920-A-G p.Tyr74His missense ANKMY1 1 82444 1.21294E-5 41222 0 1.61887E-5
2-241468925-C-T p.Gly72Glu missense+splice_region ANKMY1 3 82212 3.6491E-5 41106 0 NA
2-241468929-G-A c.214-3C>T splice_region ANKMY1 2 82068 2.437E-5 41034 0 NA
2-241468931-C-T c.214-5G>A splice_region ANKMY1 1 81964 1.22005E-5 40982 0 8.26057E-6
2-241471495-T-G p.Asn91His missense+splice_region ANKMY1 1 53082 1.88388E-5 26541 0 1.36465E-5
2-241471496-T-C p.Ser90Ser synonymous ANKMY1 1 53100 1.88324E-5 26550 0 3.18552E-5
2-241471504-T-A p.Ile88Phe missense ANKMY1 1037 53130 0.0195182 26565 27 0.0333206
2-241471512-G-C p.Ser85* stop_gained ANKMY1 2 53212 3.75855E-5 26606 0 NA
2-241471514-G-A p.Phe84Phe synonymous ANKMY1 1 53212 1.87928E-5 26606 0 NA
2-241471534-T-C p.Ile78Val missense ANKMY1 1 53262 1.87751E-5 26631 0 NA
2-241471544-A-C p.Cys74Trp missense ANKMY1 2 53274 3.75418E-5 26637 0 6.8157E-6
2-241471548-T-C p.Gln73Arg missense ANKMY1 6 53274 1.12625E-4 26637 0 2.05061E-5
2-241471549-G-T p.Gln73Lys missense ANKMY1 1 53276 1.87702E-5 26638 0 6.88042E-6
2-241471556-T-C c.214-4A>G splice_region ANKMY1 1 53280 1.87688E-5 26640 0 NA
2-241492330-C-T c.213+1G>A splice_donor ANKMY1 1 83260 1.20106E-5 41630 0 3.97988E-6
2-241492340-C-T p.Arg68Arg synonymous ANKMY1 1 83278 1.2008E-5 41639 0 NA
2-241492341-C-T p.Arg68Gln missense ANKMY1 3 83284 3.60213E-5 41642 0 0.00125
2-241492342-G-A p.Arg68Trp missense ANKMY1 101 83278 0.00121281 41639 1 0.00328276
2-241492350-A-G p.Met65Thr missense ANKMY1 20 83314 2.40056E-4 41657 0 8.48589E-4
2-241492357-T-C p.Met63Val missense ANKMY1 6 83312 7.20184E-5 41656 0 5.03525E-4
2-241492362-C-T p.Gly61Asp missense ANKMY1 2 83306 2.40079E-5 41653 0 3.97826E-6
2-241492364-G-A p.Tyr60Tyr synonymous ANKMY1 9 83314 1.08025E-4 41657 0 1.97775E-4
2-241492365-T-C p.Tyr60Cys missense ANKMY1 1 83310 1.20034E-5 41655 0 0.001875
2-241492369-C-CT p.Gly59fs frameshift ANKMY1 1 83322 1.20016E-5 41661 0 6.36943E-5
2-241492374-C-T p.Arg57Gln missense ANKMY1 1 83322 1.20016E-5 41661 0 1.64872E-5
2-241492375-G-A p.Arg57* stop_gained ANKMY1 3 83318 3.60066E-5 41659 0 3.58089E-5
2-241492375-G-C p.Arg57Gly missense ANKMY1 2 83318 2.40044E-5 41659 0 NA
2-241492383-AG-A p.Leu54fs frameshift ANKMY1 1 83328 1.20008E-5 41664 0 NA
2-241492397-C-T p.Thr49Thr synonymous ANKMY1 3 83336 3.59988E-5 41668 0 9.61107E-5
2-241492398-G-A p.Thr49Met missense ANKMY1 3 83344 3.59954E-5 41672 0 1.59969E-4
2-241492405-T-G p.Ser47Arg missense ANKMY1 1 83330 1.20005E-5 41665 0 3.18735E-5
2-241492418-C-A p.Trp42Cys missense ANKMY1 1 83324 1.20013E-5 41662 0 3.58046E-5
2-241492420-A-T p.Trp42Arg missense ANKMY1 1 83330 1.20005E-5 41665 0 3.97823E-6
2-241492442-G-A p.Cys34Cys synonymous ANKMY1 2 83286 2.40136E-5 41643 1 NA
2-241492450-C-T p.Asp32Asn missense ANKMY1 2 83242 2.40263E-5 41621 0 2.48921E-5
2-241492453-G-A p.Arg31Trp missense ANKMY1 3 83244 3.60386E-5 41622 0 5.17895E-5
2-241492463-C-T p.Gly27Gly synonymous ANKMY1 1 83198 1.20195E-5 41599 0 NA
2-241492465-C-T p.Gly27Arg missense ANKMY1 5 83158 6.01265E-5 41579 0 5.00492E-5
2-241492476-T-C c.70-2A>G splice_acceptor ANKMY1 2 83112 2.40639E-5 41556 0 3.18613E-5
2-241492481-G-A c.70-7C>T splice_region ANKMY1 1 83004 1.20476E-5 41502 0 3.36621E-5
2-241494276-C-CT c.69+6_69+7insA splice_region ANKMY1 5 83068 6.01917E-5 41534 0 3.18451E-5
2-241494286-G-A p.Gly22Gly synonymous ANKMY1 4 83174 4.8092E-5 41587 0 5.97148E-5
2-241494299-G-A p.Ser18Phe missense ANKMY1 2 83266 2.40194E-5 41633 0 7.95684E-6
2-241494311-T-C p.Tyr14Cys missense ANKMY1 3 83290 3.60187E-5 41645 0 1.64783E-5
2-241494313-T-A p.Gly13Gly synonymous ANKMY1 2 83282 2.40148E-5 41641 0 2.47162E-5
2-241494320-T-A p.Lys11Met missense ANKMY1 1 83318 1.20022E-5 41659 0 NA
2-241494322-C-T p.Met10Ile missense ANKMY1 1 83316 1.20025E-5 41658 0 NA
2-241494328-C-T p.Leu8Leu synonymous ANKMY1 1 83314 1.20028E-5 41657 0 NA
2-241494332-C-A p.Gly7Val missense ANKMY1 2 83310 2.40067E-5 41655 0 3.29478E-5
2-241494343-CT-C p.Gln3fs frameshift ANKMY1 1 83324 1.20013E-5 41662 0 NA
2-241494354-A-C p.Cys89Gly missense ANKMY1 4 83304 4.80169E-5 41652 0 3.97709E-6
2-241494357-C-A p.Gly88Cys missense ANKMY1 1 83304 1.20042E-5 41652 0 3.97709E-6
2-241494367-C-T c.-16G>A 5_prime_UTR_premature_start_codon_gain ANKMY1 1 83332 1.20002E-5 41666 0 NA
2-241494368-T-C p.Glu84Gly missense ANKMY1 5 83326 6.00053E-5 41663 0 1.91046E-4
2-241494376-AC-A p.Gly81fs frameshift ANKMY1 3 83322 3.60049E-5 41661 0 1.59062E-5
2-241494380-T-C p.Gln80Arg missense ANKMY1 1 83330 1.20005E-5 41665 0 3.97671E-6
2-241494382-G-T p.Val79Val synonymous ANKMY1 1 83330 1.20005E-5 41665 0 NA
2-241494384-C-T p.Val79Ile missense ANKMY1 7 83312 8.40215E-5 41656 0 1.07089E-4
2-241494385-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 5 83318 6.0011E-5 41659 0 6.36269E-5
2-241494397-G-A p.Ser74Ser splice_region+synonymous ANKMY1 1 83292 1.2006E-5 41646 0 NA
2-241494399-AC-A p.Glu73fs frameshift ANKMY1 5 83290 6.00312E-5 41645 0 1.31239E-4
2-241494415-C-A p.Ala68Ala synonymous ANKMY1 1 83252 1.20117E-5 41626 0 NA
2-241494415-C-T p.Ala68Ala synonymous ANKMY1 1 83252 1.20117E-5 41626 0 5.03525E-4
2-241494416-G-A p.Ala68Val missense ANKMY1 5 83242 6.00658E-5 41621 0 1.07126E-4
2-241494424-C-T p.Pro65Pro synonymous ANKMY1 1 83230 1.20149E-5 41615 0 8.24198E-6
2-241494425-G-A p.Pro65Leu missense ANKMY1 1 83220 1.20163E-5 41610 0 3.97858E-5
2-241494437-T-C p.Glu61Gly missense ANKMY1 1 83122 1.20305E-5 41561 0 NA
2-241494444-CTT-GTC p.GluGlu58GlyGln missense ANKMY1 1 83102 1.20334E-5 41551 0 NA
2-241494445-T-G p.Glu58Asp missense ANKMY1 1 83094 1.20346E-5 41547 0 NA
2-241494468-C-T p.Val51Ile missense ANKMY1 2 82816 2.41499E-5 41408 0 8.27595E-6
2-241494476-A-G c.-121-4T>C splice_region ANKMY1 1 82760 1.20831E-5 41380 0 3.99511E-6
2-241496599-C-T c.146+8G>A splice_region ANKMY1 1 72192 1.38519E-5 36096 0 5.41776E-6
2-241496606-C-T c.146+1G>A splice_donor ANKMY1 2 74188 2.69585E-5 37094 0 2.61441E-5
2-241496622-G-A p.Ala44Val missense ANKMY1 1 77066 1.29759E-5 38533 0 NA
2-241496623-C-T p.Ala44Thr missense ANKMY1 1 77078 1.29739E-5 38539 0 4.58829E-6
2-241496637-G-A p.Ser39Phe missense ANKMY1 1 78554 1.27301E-5 39277 0 5.72561E-5
2-241496660-G-T p.Thr31Thr synonymous ANKMY1 1 80636 1.24014E-5 40318 0 NA
2-241496664-T-C p.Glu30Gly missense ANKMY1 5 80770 6.19042E-5 40385 0 3.37567E-5
2-241496668-C-G p.Gly29Arg missense ANKMY1 3 81098 3.69923E-5 40549 0 0.00151057
2-241496669-G-A p.Gly28Gly synonymous ANKMY1 1 81098 1.23308E-5 40549 0 8.50384E-6
2-241496677-C-A p.Gly26Trp missense ANKMY1 1 81614 1.22528E-5 40807 0 NA
2-241496685-G-A p.Pro23Leu missense ANKMY1 1 81722 1.22366E-5 40861 0 NA
2-241496689-G-A p.Arg22Cys missense ANKMY1 1 81858 1.22163E-5 40929 0 8.45066E-6
2-241496690-T-A p.Gln21His missense ANKMY1 1 81896 1.22106E-5 40948 0 1.26011E-5
2-241496690-T-C p.Gln21Gln synonymous ANKMY1 1 81896 1.22106E-5 40948 0 4.20037E-6
2-241496699-G-A p.Gly18Gly synonymous ANKMY1 1 82036 1.21898E-5 41018 0 8.42915E-6
2-241496731-G-A p.Leu8Phe missense ANKMY1 4 82216 4.86523E-5 41108 1 2.21201E-4
2-241496735-G-A p.Ala6Ala synonymous ANKMY1 56 82116 6.81962E-4 41058 0 5.03525E-4
2-241496735-G-C p.Ala6Ala synonymous ANKMY1 1 82118 1.21776E-5 41059 0 NA
2-241496744-C-T p.Gly3Gly synonymous ANKMY1 1 82022 1.21919E-5 41011 0 NA
2-241496745-C-A p.Gly3Val missense ANKMY1 1 81990 1.21966E-5 40995 0 NA
2-241496746-C-T p.Gly3Arg missense ANKMY1 1 81944 1.22035E-5 40972 0 NA
2-241496759-G-C p.Thr77Thr synonymous ANKMY1 1 81558 1.22612E-5 40779 0 4.97829E-6
2-241496765-C-T p.Trp75* stop_gained ANKMY1 6 81208 7.38843E-5 40604 0 3.42737E-4
2-241496770-C-A c.-17-1G>T splice_acceptor ANKMY1 11546 80304 0.143779 40152 916 0.203125
2-241496771-T-C c.-17-2A>G splice_acceptor ANKMY1 1 80790 1.23778E-5 40395 0 NA
2-241497294-G-A c.-122+4C>T splice_region ANKMY1 1 24188 4.13428E-5 12094 0 3.19142E-5
2-241497299-A-G c.-123T>C splice_region ANKMY1 1 24268 4.12065E-5 12134 0 1.27804E-4
2-241497323-C-A c.-147G>T 5_prime_UTR_premature_start_codon_gain ANKMY1 291 24450 0.0119018 12225 9 0.0252567
2-241497376-G-A c.-200C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 2 24428 8.18733E-5 12214 0 3.18756E-5
2-241497402-C-A c.-122G>T 5_prime_UTR_premature_start_codon_gain ANKMY1 1 24342 4.10813E-5 12171 0 NA
2-241497413-G-A c.-133C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 1 24178 4.13599E-5 12089 0 NA
2-241497714-T-G c.-18+7A>C splice_region ANKMY1 1 1150 8.69565E-4 575 0 NA
2-241497715-G-T c.-18+6C>A splice_region ANKMY1 2 1156 0.0017301 578 0 0.00238869
2-241500142-C-T c.220+6G>A splice_region ANKMY1 1 39966 2.50213E-5 19983 0 NA
2-241500144-G-A c.220+4C>T splice_region ANKMY1 1 39886 2.50715E-5 19943 0 NA
2-241500147-C-A c.220+1G>T splice_donor ANKMY1 3 39924 7.51428E-5 19962 0 5.08647E-4
2-241500162-C-G p.Arg69Pro missense ANKMY1 1 39620 2.52398E-5 19810 0 NA
2-241500164-C-T p.Arg10His missense ANKMY1 1 39560 2.52781E-5 19780 0 1.60154E-4
2-241500168-G-C p.Ala67Gly missense ANKMY1 1 39478 2.53306E-5 19739 0 NA
2-241500170-G-A p.Ala8Val missense ANKMY1 4 39418 1.01476E-4 19709 0 0.00102459
2-241500177-C-T p.Ser64Asn missense ANKMY1 1 39354 2.54104E-5 19677 0 NA
2-241500183-C-T p.Arg62Lys missense ANKMY1 3 39124 7.66793E-5 19562 0 4.40458E-4
2-241500186-G-C p.Pro61Arg missense ANKMY1 2 38980 5.13084E-5 19490 0 2.25269E-4
2-241500195-C-G p.Arg58Pro missense ANKMY1 9 38608 2.33112E-4 19304 0 0.0319038
2-241500196-G-A p.Arg58Cys missense ANKMY1 1 38768 2.57945E-5 19384 0 1.60308E-4
2-241500200-C-G p.Ala56Ala synonymous ANKMY1 1 38790 2.57798E-5 19395 0 NA
2-241500203-G-A c.-177C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 1 38828 2.57546E-5 19414 0 1.28337E-4
2-241500204-G-GGCGCGGAGGAGCAGCTGGCGC p.Arg48_Ala54dup conservative_inframe_insertion ANKMY1 1 38780 2.57865E-5 19390 0 3.21481E-5
2-241500221-G-A p.Ala49Ala synonymous ANKMY1 3 38796 7.73276E-5 19398 0 NA
2-241500227-C-G p.Ala47Ala synonymous ANKMY1 7 38564 1.81516E-4 19282 0 3.87197E-4
2-241500235-T-TCACGCTGTGCGTCAAC p.Thr45fs frameshift ANKMY1 1 38752 2.58051E-5 19376 0 NA
2-241500237-A-C p.Val44Gly missense ANKMY1 1 38700 2.58398E-5 19350 0 NA
2-241500247-T-A p.Thr41Ser missense ANKMY1 8 38228 2.09271E-4 19114 0 2.35705E-5
2-241500248-C-G p.Leu40Phe missense ANKMY1 2 38234 5.23095E-5 19117 0 3.23018E-5
2-241500257-C-T p.Arg37Arg synonymous ANKMY1 1 37856 2.64159E-5 18928 0 NA
2-241500258-C-T p.Arg37Gln missense ANKMY1 4 37808 1.05798E-4 18904 0 NA
2-241500266-G-A c.-240C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 1 37632 2.65731E-5 18816 0 NA
2-241500274-CGCGCGCGCCCGGCGTGGCAGAGCT-C p.Ser24_Arg31del conservative_inframe_deletion ANKMY1 431 37328 0.0115463 18664 3 0.0322014
2-241500280-C-T p.Ala30Thr missense ANKMY1 1 37420 2.67237E-5 18710 0 0.00157068
2-241500281-G-T p.Gly29Gly synonymous ANKMY1 3 37444 8.01196E-5 18722 0 3.22165E-5
2-241500282-C-T p.Gly29Asp missense ANKMY1 1 37518 2.66539E-5 18759 0 3.86026E-4
2-241500286-G-A p.Pro28Ser missense ANKMY1 422 38326 0.0110108 19163 16 0.0276954
2-241500286-G-C p.Pro28Ala missense ANKMY1 1 38340 2.60824E-5 19170 0 NA
2-241500291-G-T p.Ala26Asp missense ANKMY1 1 39312 2.54375E-5 19656 0 1.35318E-4
2-241500298-T-G p.Ser24Arg missense ANKMY1 1 39826 2.51092E-5 19913 0 9.19726E-6
2-241500300-C-T p.Arg23His missense ANKMY1 1 40192 2.48806E-5 20096 0 NA
2-241500302-C-T p.Thr22Thr synonymous ANKMY1 1 40200 2.48756E-5 20100 0 0.00255885
2-241500318-G-C p.Ser17Trp missense ANKMY1 4 40290 9.92802E-5 20145 0 1.46366E-5
2-241500328-A-T p.Ser14Thr missense ANKMY1 1 40372 2.47696E-5 20186 0 NA
2-241500331-A-C p.Ser13Ala missense ANKMY1 2 40386 4.95221E-5 20193 0 NA
2-241500333-C-T p.Arg12Lys missense ANKMY1 1 40386 2.47611E-5 20193 0 6.79228E-6
2-241500335-G-C p.Ser11Arg missense ANKMY1 5 40398 1.23769E-4 20199 0 6.40985E-5
2-241500353-C-T p.Val5Val synonymous ANKMY1 1 40424 2.47378E-5 20212 0 NA
2-241500356-G-A c.-330C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 2 40342 4.95761E-5 20171 0 1.42082E-5
2-241500358-G-A p.His4Tyr missense ANKMY1 8 40370 1.98167E-4 20185 0 0.00129281
2-241500387-G-A c.-20C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 5 40662 1.22965E-4 20331 0 4.72634E-5
2-241500445-C-T c.-78G>A 5_prime_UTR_premature_start_codon_gain ANKMY1 3 47508 6.31473E-5 23754 0 3.18939E-5
2-241500453-C-G p.Arg2Thr missense+splice_region ANKMY1 1 48502 2.06177E-5 24251 0 NA
2-241500453-C-T p.Arg2Lys missense+splice_region ANKMY1 1 48502 2.06177E-5 24251 0 NA
2-241500456-A-T p.Met1? start_lost ANKMY1 1 49082 2.03741E-5 24541 0 1.27551E-4
2-241500460-G-A c.-93C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 2 49226 4.06289E-5 24613 0 6.55738E-5
2-241500475-G-A c.-108C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 1 52618 1.90049E-5 26309 0 NA
2-241500508-T-C c.-141A>G 5_prime_UTR_premature_start_codon_gain ANKMY1 15156 58426 0.259405 29213 1808 0.352966
2-241508451-A-T c.-122+2T>A splice_donor ANKMY1 2 40390 4.95172E-5 20195 0 NA
2-241508520-G-A c.-189C>T 5_prime_UTR_premature_start_codon_gain ANKMY1 3 38912 7.7097E-5 19456 0 NA