Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-41510741-C-T c.*2568G>A splice_region ANK1 2 44802 4.46409E-5 22401 0 NA
8-41512819-G-GT c.*426dupA splice_region ANK1 5 28522 1.75303E-4 14261 0 NA
8-41512819-G-GTT c.*425_*426dupAA splice_region ANK1 1 28534 3.50459E-5 14267 0 NA
8-41512819-G-GTTT c.*424_*426dupAAA splice_region ANK1 1 28542 3.50361E-5 14271 0 NA
8-41513252-G-T p.Asn1896Lys missense ANK1 1 83082 1.20363E-5 41541 0 6.37471E-5
8-41513261-C-T p.Ser1893Ser synonymous ANK1 3 83052 3.61219E-5 41526 0 6.25E-4
8-41513269-G-T p.His1891Asn missense ANK1 2 83018 2.40912E-5 41509 0 7.97048E-6
8-41518942-C-T c.*36+6G>A splice_region ANK1 1 82336 1.21454E-5 41168 0 3.18776E-5
8-41518943-G-A c.*36+5C>T splice_region ANK1 3 82406 3.64051E-5 41203 0 1.11694E-4
8-41518949-T-A c.*35A>T splice_region ANK1 2 82604 2.42119E-5 41302 0 3.98562E-6
8-41518999-T-C p.Lys1876Lys synonymous ANK1 1 83082 1.20363E-5 41541 0 1.15879E-4
8-41519001-T-G p.Lys1876Gln missense ANK1 1 83096 1.20343E-5 41548 0 NA
8-41519012-C-T p.Arg1872Gln missense ANK1 25 83088 3.00886E-4 41544 0 3.18695E-4
8-41519013-G-A p.Arg1872Trp missense ANK1 14 83056 1.68561E-4 41528 0 1.79231E-4
8-41519021-A-C p.Ile1869Arg missense ANK1 1 83118 1.20311E-5 41559 0 5.57192E-5
8-41519026-C-T p.Ala1867Ala synonymous ANK1 37 83102 4.45236E-4 41551 1 0.00251762
8-41519027-G-A p.Ala1867Val missense ANK1 4 83096 4.81371E-5 41548 0 5.17549E-5
8-41519029-C-T p.Gly1866Gly synonymous ANK1 1 83140 1.20279E-5 41570 0 8.26925E-6
8-41519035-C-T p.Arg1864Arg synonymous ANK1 2 83136 2.4057E-5 41568 0 3.97975E-6
8-41519048-AG-A p.Leu1860fs frameshift ANK1 1 83096 1.20343E-5 41548 0 NA
8-41519048-A-G p.Leu1860Pro missense ANK1 1 83096 1.20343E-5 41548 0 NA
8-41519049-G-A p.Leu1860Leu synonymous ANK1 1 83072 1.20378E-5 41536 0 NA
8-41519053-C-T p.Pro1858Pro synonymous ANK1 2 83068 2.40767E-5 41534 0 1.27453E-4
8-41519054-G-A p.Pro1858Leu missense ANK1 6 83042 7.22526E-5 41521 0 4.96114E-5
8-41519055-G-A p.Pro1858Ser missense ANK1 1 83046 1.20415E-5 41523 0 NA
8-41519061-G-T p.Leu1856Ile missense ANK1 2 83018 2.40912E-5 41509 0 8.26829E-6
8-41519066-C-T p.Ser1854Asn missense ANK1 1 83000 1.20482E-5 41500 0 NA
8-41519079-C-T p.Glu1850Lys missense ANK1 1 82906 1.20619E-5 41453 0 NA
8-41519086-C-T c.5545-4G>A splice_region ANK1 1 82830 1.20729E-5 41415 0 3.98581E-6
8-41519313-C-T c.5619+6G>A splice_region ANK1 1 83230 1.20149E-5 41615 0 8.32445E-6
8-41519315-G-A c.5619+4C>T splice_region ANK1 21 83232 2.52307E-4 41616 0 6.37267E-4
8-41519342-C-T p.Asp1866Asn missense ANK1 2 83314 2.40056E-5 41657 0 8.30165E-6
8-41519346-A-G p.Asp1864Asp synonymous ANK1 2 83312 2.40061E-5 41656 0 NA
8-41519348-C-T p.Asp1864Asn missense ANK1 113 83302 0.00135651 41651 2 0.00299688
8-41519349-G-T p.Val1863Val synonymous ANK1 1 83288 1.20065E-5 41644 0 8.29889E-6
8-41519349-G-A p.Val1863Val synonymous ANK1 1 83288 1.20065E-5 41644 0 2.48967E-5
8-41519365-G-A p.Pro1858Leu missense ANK1 1 83324 1.20013E-5 41662 0 NA
8-41519382-C-T p.Glu1852Glu synonymous ANK1 1 83338 1.19993E-5 41669 0 3.18796E-5
8-41519383-T-G p.Glu1852Ala missense ANK1 1 83348 1.19979E-5 41674 0 NA
8-41519387-C-T p.Val1851Ile missense ANK1 1 83346 1.19982E-5 41673 0 3.97947E-6
8-41519392-ACCT-A p.Glu1889fs frameshift ANK1 5 83346 5.99909E-5 41673 0 3.19101E-5
8-41519399-C-T p.Glu1888Lys missense ANK1 3 83324 3.6004E-5 41662 0 5.03525E-4
8-41519400-G-A n.547C>T splice_region ANK1 1 83310 1.20034E-5 41655 0 3.3134E-5
8-41519402-G-A p.His1887Tyr missense ANK1 3 83322 3.60049E-5 41661 0 8.28295E-6
8-41519412-G-A p.Ala1883Ala synonymous ANK1 3 83314 3.60084E-5 41657 0 4.96944E-5
8-41519417-C-T p.Asp1882Asn missense ANK1 4 83314 4.80111E-5 41657 0 3.18756E-5
8-41519418-G-A p.Ala1881Ala synonymous ANK1 6 83310 7.20202E-5 41655 0 1.83085E-4
8-41519420-C-T p.Ala1881Thr missense ANK1 4 83314 4.80111E-5 41657 0 3.98029E-5
8-41519439-T-C p.Arg1874Arg synonymous ANK1 1 83250 1.2012E-5 41625 0 8.28761E-6
8-41519452-C-T p.Arg1870His missense ANK1 1 83142 1.20276E-5 41571 0 1.19738E-5
8-41519453-G-A p.Arg1870Cys missense ANK1 4 83148 4.8107E-5 41574 0 8.29972E-6
8-41519461-T-TTCTTGGTGACAATGTTGCCCTGCTCATCCGTGAATTGCTCCTCTGTC c.5602-3_5602-2insGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGA splice_region ANK1 2 83088 2.40709E-5 41544 1 NA
8-41519462-A-G c.5602-3T>C splice_region ANK1 57670 78764 0.732187 39382 21103 0.780473
8-41521180-C-T p.Lys1866Lys synonymous ANK1 1 83248 1.20123E-5 41624 0 NA
8-41521181-T-C p.Lys1866Arg missense ANK1 1 83248 1.20123E-5 41624 0 3.97659E-6
8-41521207-C-T p.Thr1857Thr synonymous ANK1 3 83334 3.59997E-5 41667 0 6.25E-4
8-41521208-G-A p.Thr1857Met missense ANK1 9 83344 1.07986E-4 41672 0 6.37105E-5
8-41521216-C-T p.Glu1854Glu synonymous ANK1 1 83354 1.1997E-5 41677 0 3.97624E-6
8-41521219-C-T p.Glu1853Glu synonymous ANK1 1 83354 1.1997E-5 41677 0 NA
8-41521222-T-C p.Thr1852Thr synonymous ANK1 1 83346 1.19982E-5 41673 0 NA
8-41521228-C-G p.Gln1850His missense ANK1 1 83366 1.19953E-5 41683 0 3.18451E-5
8-41521262-T-G c.5518-2A>C splice_acceptor ANK1 1 83286 1.20068E-5 41643 0 NA
8-41522316-C-T c.219+7G>A splice_region ANK1 5 79302 6.30501E-5 39651 0 0.00125313
8-41522316-C-A c.219+7G>T splice_region ANK1 1 79302 1.261E-5 39651 0 4.40567E-6
8-41522317-G-A c.219+6C>T splice_region ANK1 21 79534 2.64038E-4 39767 0 3.20114E-4
8-41522335-C-A p.Arg69Arg synonymous ANK1 2 80644 2.48004E-5 40322 0 NA
8-41522337-G-A p.Arg69Trp missense ANK1 1 80692 1.23928E-5 40346 0 6.37267E-5
8-41522340-G-A p.Arg68Trp missense ANK1 1 80790 1.23778E-5 40395 0 8.26897E-6
8-41522342-C-T p.Arg67Gln missense ANK1 7 81046 8.63707E-5 40523 0 5.04757E-5
8-41522343-G-A p.Arg67Trp missense ANK1 2 81074 2.46688E-5 40537 0 1.64424E-5
8-41522344-G-C p.Val66Val synonymous ANK1 1 81248 1.2308E-5 40624 0 0.00100806
8-41522345-A-C p.Val66Gly missense ANK1 9 81306 1.10693E-4 40653 0 4.80111E-5
8-41522353-G-C p.Thr63Thr synonymous ANK1 2 81756 2.4463E-5 40878 0 3.18512E-5
8-41522359-G-T p.Ile61Ile synonymous ANK1 1 81982 1.21978E-5 40991 0 1.08141E-5
8-41522370-C-T p.Glu58Lys missense ANK1 27 82258 3.28236E-4 41129 0 1.49071E-4
8-41522370-C-CGTCGT p.Glu58fs frameshift ANK1 1 82258 1.21569E-5 41129 0 1.02181E-5
8-41522371-G-A p.Asp57Asp synonymous ANK1 3 82268 3.64662E-5 41134 0 6.25E-4
8-41522373-C-T p.Asp57Asn missense ANK1 1 82328 1.21465E-5 41164 0 3.18593E-5
8-41522374-G-A p.Asp56Asp synonymous ANK1 5 82344 6.07209E-5 41172 0 5.86877E-5
8-41522378-C-A p.Ser55Ile missense ANK1 1 82494 1.21221E-5 41247 0 NA
8-41522388-C-A p.Glu52* stop_gained ANK1 1 82606 1.21057E-5 41303 0 9.16036E-6
8-41522389-G-A p.Ser51Ser synonymous ANK1 3 82604 3.63179E-5 41302 0 1.1786E-4
8-41522395-C-T p.Gly49Gly synonymous ANK1 1 82758 1.20834E-5 41379 0 NA
8-41522402-T-G p.Glu47Ala missense ANK1 1 82834 1.20723E-5 41417 0 3.98454E-6
8-41522407-G-C p.Asp45Glu missense ANK1 1183 82812 0.0142854 41406 56 0.0277141
8-41522422-G-T p.Ile40Ile synonymous ANK1 121 82954 0.00145864 41477 0 0.004375
8-41522443-C-T p.Leu33Leu synonymous ANK1 1 83100 1.20337E-5 41550 0 NA
8-41522453-C-T p.Arg30Lys missense ANK1 6 83136 7.21709E-5 41568 0 0.00151057
8-41522460-T-C p.Ile28Val missense ANK1 1 83146 1.2027E-5 41573 0 NA
8-41522468-A-G p.Val25Ala missense ANK1 1 83168 1.20239E-5 41584 0 NA
8-41522492-A-G p.Phe17Ser missense ANK1 1 83134 1.20288E-5 41567 0 3.97883E-6
8-41522497-C-G p.Leu15Leu synonymous ANK1 1 83126 1.20299E-5 41563 0 NA
8-41522507-A-C p.Leu12Arg missense ANK1 1 83056 1.20401E-5 41528 0 3.31538E-5
8-41522509-C-T p.Thr11Thr synonymous ANK1 1 83024 1.20447E-5 41512 0 3.18634E-5
8-41522510-G-A p.Thr11Met missense ANK1 1 83040 1.20424E-5 41520 0 3.18613E-5
8-41522523-G-A p.Gln7* stop_gained ANK1 1 82874 1.20665E-5 41437 0 NA
8-41522525-G-C p.Thr6Ser missense ANK1 1 82824 1.20738E-5 41412 0 NA
8-41522529-C-T p.Val5Ile missense ANK1 12 82700 1.45103E-4 41350 0 6.25E-4
8-41522530-G-A p.Phe4Phe synonymous ANK1 2 82696 2.4185E-5 41348 0 1.27697E-4
8-41522537-C-T p.Trp2* stop_gained ANK1 1 82536 1.21159E-5 41268 0 3.99843E-6
8-41522558-G-A c.-17C>T 5_prime_UTR_premature_start_codon_gain ANK1 2 81356 2.45833E-5 40678 0 1.59337E-4
8-41522562-G-A c.-21C>T 5_prime_UTR_premature_start_codon_gain ANK1 8 80998 9.87679E-5 40499 0 1.27486E-4
8-41522584-C-A c.-43G>T 5_prime_UTR_premature_start_codon_gain ANK1 1 78964 1.2664E-5 39482 0 NA
8-41522593-C-T c.-52G>A 5_prime_UTR_premature_start_codon_gain ANK1 3 77688 3.8616E-5 38844 0 9.55901E-5
8-41522722-G-A c.-181C>T 5_prime_UTR_premature_start_codon_gain ANK1 4 40876 9.78569E-5 20438 0 7.57817E-6
8-41522749-G-A c.-208C>T 5_prime_UTR_premature_start_codon_gain ANK1 473 38218 0.0123764 19109 19 0.027337
8-41525777-G-A c.5517+8C>T splice_region ANK1 1 82926 1.20589E-5 41463 0 NA
8-41525778-C-T c.5517+7G>A splice_region ANK1 3 82944 3.6169E-5 41472 0 3.18552E-5
8-41525788-C-T p.Val1838Val synonymous ANK1 6 83090 7.22109E-5 41545 0 9.55657E-5
8-41525803-G-A p.Thr1833Thr synonymous ANK1 41 83188 4.9286E-4 41594 0 3.10772E-4
8-41525807-T-A p.Asn1832Ile missense ANK1 1 83198 1.20195E-5 41599 0 1.43386E-4
8-41525809-C-A p.Lys1831Asn missense ANK1 1 83222 1.20161E-5 41611 0 1.64747E-5
8-41525824-C-A p.Gln1826His missense ANK1 2 83292 2.40119E-5 41646 0 3.97912E-6
8-41525835-G-T p.Gln1823Lys missense ANK1 1 83290 1.20062E-5 41645 0 NA
8-41525846-C-T p.Arg1819Lys missense ANK1 8 83290 9.60499E-5 41645 0 8.23696E-6
8-41525849-C-G p.Arg1818Pro missense ANK1 1 83286 1.20068E-5 41643 0 8.23696E-6
8-41525849-C-T p.Arg1818Gln missense ANK1 2 83286 2.40136E-5 41643 0 3.29478E-5
8-41525850-G-A p.Arg1818Trp missense ANK1 3 83294 3.6017E-5 41647 0 6.25E-4
8-41525859-C-T p.Asp1815Asn missense ANK1 2 83296 2.40108E-5 41648 0 2.38643E-5
8-41525860-G-A c.*358C>T splice_region ANK1 2 83296 2.40108E-5 41648 0 5.03525E-4
8-41525880-C-T p.Glu1808Lys missense ANK1 5 83316 6.00125E-5 41658 0 9.55475E-5
8-41525881-G-A p.Pro1807Pro synonymous ANK1 2 83312 2.40061E-5 41656 0 3.18674E-5
8-41525885-T-C p.Gln1806Arg missense ANK1 2 83324 2.40027E-5 41662 0 3.18451E-5
8-41525888-T-G p.Glu1805Ala missense ANK1 1 83328 1.20008E-5 41664 0 1.64734E-5
8-41525890-T-C p.Thr1804Thr synonymous ANK1 2 83326 2.40021E-5 41663 0 8.23669E-6
8-41525893-C-G p.Trp1803Cys missense ANK1 3 83326 3.60032E-5 41663 0 NA
8-41525896-C-T p.Thr1802Thr synonymous ANK1 2 83324 2.40027E-5 41662 0 6.36902E-5
8-41525896-C-G p.Thr1802Thr synonymous ANK1 2 83324 2.40027E-5 41662 0 6.36902E-5
8-41525905-A-G p.Ser1799Ser synonymous ANK1 3 83314 3.60084E-5 41657 0 2.47097E-5
8-41525914-C-T p.Val1796Val synonymous ANK1 20798 83094 0.250295 41547 2701 0.289023
8-41525929-G-A p.Tyr1791Tyr synonymous ANK1 4 83356 4.79869E-5 41678 0 3.18532E-5
8-41525931-A-T p.Tyr1791Asn missense ANK1 1 83360 1.19962E-5 41680 0 NA
8-41525947-G-A p.Pro1785Pro synonymous ANK1 4 83376 4.79754E-5 41688 0 1.98813E-5
8-41525949-G-C p.Pro1785Ala missense ANK1 2 83368 2.399E-5 41684 0 5.76568E-5
8-41525956-C-T p.Gly1782Gly synonymous ANK1 7 83372 8.3961E-5 41686 0 7.41302E-5
8-41525969-G-A p.Thr1778Ile missense ANK1 1 83380 1.19933E-5 41690 0 NA
8-41525971-A-T p.Ser1777Arg missense ANK1 4 83384 4.79708E-5 41692 0 1.27429E-4
8-41525973-T-G p.Ser1777Arg missense ANK1 2 83384 2.39854E-5 41692 0 NA
8-41525975-G-C p.Thr1776Arg missense ANK1 1 83384 1.19927E-5 41692 0 NA
8-41525979-C-T p.Gly1775Arg missense ANK1 2 83384 2.39854E-5 41692 0 NA
8-41525999-T-C p.Gln1768Arg missense ANK1 1 83388 1.19921E-5 41694 0 NA
8-41526000-G-T p.Gln1768Lys missense ANK1 1 83382 1.1993E-5 41691 0 NA
8-41526001-C-A p.Thr1767Thr synonymous ANK1 2 83382 2.3986E-5 41691 0 1.64756E-5
8-41526001-C-T p.Thr1767Thr synonymous ANK1 2 83382 2.3986E-5 41691 0 6.37146E-5
8-41526002-G-A p.Thr1767Met missense ANK1 4 83384 4.79708E-5 41692 0 2.38586E-5
8-41526007-C-G p.Glu1765Asp missense ANK1 2 83386 2.39848E-5 41693 0 3.18512E-5
8-41526015-G-T p.Gln1763Lys missense ANK1 1 83372 1.19944E-5 41686 0 NA
8-41526033-C-T p.Ala1757Thr missense ANK1 1 83364 1.19956E-5 41682 0 NA
8-41526034-A-G p.Asp1756Asp synonymous ANK1 1 83364 1.19956E-5 41682 0 3.97747E-6
8-41526044-T-A p.Tyr1753Phe missense ANK1 1 83350 1.19976E-5 41675 0 NA
8-41526050-A-T p.Val1751Asp missense ANK1 2 83352 2.39946E-5 41676 0 6.37592E-5
8-41526053-A-G p.Ile1750Thr missense ANK1 2 83346 2.39964E-5 41673 0 3.98045E-6
8-41526055-C-T p.Ser1749Ser synonymous ANK1 2 83332 2.40004E-5 41666 0 1.91205E-4
8-41526060-C-T p.Gly1748Ser missense ANK1 6 83318 7.20133E-5 41659 0 6.25E-4
8-41526061-G-A p.Asp1747Asp synonymous ANK1 4 83320 4.80077E-5 41660 0 5.03525E-4
8-41526069-C-T p.Asp1745Asn missense ANK1 1 83306 1.20039E-5 41653 0 8.28912E-6
8-41526085-G-GTCCTGACTCCTCTCCGTCACCT c.5220-4_5220-3insAGGTGACGGAGAGGAGTCAGGA splice_region ANK1 1 83250 1.2012E-5 41625 0 NA
8-41526085-G-GTCCTGACTCCTCTCCGTCACCTGACTCACGGTGGGGGAATGT c.5220-4_5220-3insACATTCCCCCACCGTGAGTCAGGTGACGGAGAGGAGTCAGGA splice_region ANK1 2 83250 2.4024E-5 41625 1 NA
8-41526085-G-GTCCTGACTCCTCTCCGTCACCTGACTCAC c.5220-4_5220-3insGTGAGTCAGGTGACGGAGAGGAGTCAGGA splice_region ANK1 1 83248 1.20123E-5 41624 0 NA
8-41526085-G-GTCCTGACTCCTCTCCGTCACCTGACTCACGGT c.5220-4_5220-3insACCGTGAGTCAGGTGACGGAGAGGAGTCAGGA splice_region ANK1 1 83250 1.2012E-5 41625 0 NA
8-41526086-G-T c.5220-4C>A splice_region ANK1 1 83230 1.20149E-5 41615 0 8.36918E-6
8-41526087-G-GTA c.5220-6_5220-5insTA splice_region ANK1 1 83228 1.20152E-5 41614 0 NA
8-41529877-C-G p.Gln1738His missense ANK1 1 83128 1.20296E-5 41564 0 NA
8-41529888-C-T p.Glu1735Lys missense ANK1 2 83174 2.4046E-5 41587 0 NA
8-41529889-C-T p.Thr1734Thr synonymous ANK1 1 83176 1.20227E-5 41588 0 8.23669E-6
8-41529890-G-A p.Thr1734Met missense ANK1 3 83180 3.60664E-5 41590 0 6.37308E-5
8-41529894-C-T p.Val1733Met missense ANK1 1 83212 1.20175E-5 41606 0 8.23669E-6
8-41529903-C-T p.Val1730Met missense ANK1 2 83236 2.40281E-5 41618 0 1.99345E-5
8-41529906-T-TG p.Thr1729fs frameshift ANK1 1 83252 1.20117E-5 41626 0 NA
8-41529907-G-C p.Pro1728Pro synonymous ANK1 5 83256 6.00557E-5 41628 0 6.36943E-5
8-41529909-G-T p.Pro1728Thr missense ANK1 1 83242 1.20132E-5 41621 0 8.23655E-6
8-41529913-A-ATG p.Ser1727fs frameshift ANK1 1 83248 1.20123E-5 41624 0 NA
8-41529917-G-A p.Thr1725Ile missense ANK1 11 83260 1.32116E-4 41630 0 0.00100705
8-41529923-C-T p.Arg1723Gln missense ANK1 10 83262 1.20103E-4 41631 0 1.64731E-4
8-41529927-C-A p.Ala1722Ser missense ANK1 4 83288 4.80261E-5 41644 0 3.18492E-5
8-41529935-C-A p.Arg1719Met missense ANK1 2 83298 2.40102E-5 41649 0 3.18471E-5
8-41529951-C-T p.Val1714Ile missense ANK1 1 83322 1.20016E-5 41661 0 8.23642E-6
8-41529960-C-T p.Val1711Met missense ANK1 1 83330 1.20005E-5 41665 0 3.18492E-5
8-41529992-G-A p.Ala1700Val missense ANK1 3 83352 3.59919E-5 41676 0 3.57867E-5
8-41529993-C-T p.Ala1700Thr missense ANK1 1 83352 1.19973E-5 41676 0 3.97627E-5
8-41529994-G-A p.Asp1699Asp synonymous ANK1 350 83344 0.00419946 41672 1 0.00522326
8-41529994-G-C p.Asp1699Glu missense ANK1 2 83352 2.39946E-5 41676 0 3.18492E-5
8-41530007-T-C p.Lys1695Arg missense ANK1 4 83356 4.79869E-5 41678 0 6.25E-4
8-41530010-G-A p.Ser1694Phe missense ANK1 4 83356 4.79869E-5 41678 0 0.00100705
8-41530062-C-T p.Asp1677Asn missense ANK1 1 83338 1.19993E-5 41669 0 3.1841E-5
8-41530063-G-A p.Ile1676Ile synonymous ANK1 1 83340 1.1999E-5 41670 0 3.18573E-5
8-41530064-A-G p.Ile1676Thr missense ANK1 1 83340 1.1999E-5 41670 0 NA
8-41530074-T-C p.Asn1673Asp missense ANK1 1 83324 1.20013E-5 41662 0 NA
8-41530083-C-A p.Asp1670Tyr missense ANK1 1 83280 1.20077E-5 41640 0 3.29462E-5
8-41530085-G-A p.Ser1669Leu missense ANK1 1 83278 1.2008E-5 41639 0 5.03525E-4
8-41530092-CTG-C p.Thr1666fs frameshift ANK1 3 83248 3.60369E-5 41624 0 NA
8-41530095-T-C p.Thr1666Ala missense ANK1 2 83234 2.40286E-5 41617 0 8.23655E-6
8-41530098-CG-C p.Asp1664fs frameshift ANK1 3 83214 3.60516E-5 41607 0 NA
8-41530099-G-A p.Asp1664Asp synonymous ANK1 2 83200 2.40385E-5 41600 0 2.47105E-5
8-41530109-A-G p.Leu1661Pro missense ANK1 1 83150 1.20265E-5 41575 0 6.37105E-5
8-41530128-C-T p.Glu1655Lys missense ANK1 2 83010 2.40935E-5 41505 0 3.97845E-6
8-41530129-G-A p.Pro1654Pro synonymous ANK1 3 83008 3.61411E-5 41504 0 NA
8-41530132-G-T p.Gly1653Gly synonymous ANK1 1 82978 1.20514E-5 41489 0 NA
8-41530133-C-T p.Gly1653Asp missense ANK1 1 82986 1.20502E-5 41493 0 1.1936E-5
8-41530136-C-T p.Arg1652Gln missense ANK1 1 82958 1.20543E-5 41479 0 1.19359E-5
8-41530138-C-T p.Pro1651Pro synonymous ANK1 3 82934 3.61733E-5 41467 0 2.47186E-5
8-41530144-C-T p.Glu1649Glu synonymous ANK1 3 82902 3.61873E-5 41451 0 3.18451E-5
8-41530146-C-G p.Glu1649Gln missense ANK1 1 82912 1.2061E-5 41456 0 8.23995E-6
8-41530150-G-C p.Leu1647Leu synonymous ANK1 4 82892 4.82556E-5 41446 0 4.3764E-5
8-41530161-C-T p.Glu1644Lys missense ANK1 2 82830 2.41458E-5 41415 0 3.97909E-6
8-41530194-C-T p.Asp1633Asn missense ANK1 2 82690 2.41867E-5 41345 0 7.96147E-6
8-41530200-C-T p.Ala1631Thr missense ANK1 5 82642 6.05019E-5 41321 0 3.1839E-5
8-41530212-C-G p.Glu1627Gln missense ANK1 2 82576 2.42201E-5 41288 0 3.98629E-6
8-41530213-C-G p.Leu1626Leu synonymous ANK1 2 82588 2.42166E-5 41294 0 8.29256E-6
8-41530216-A-C p.Ser1625Ser synonymous ANK1 5 82540 6.05767E-5 41270 0 3.32082E-5
8-41530247-G-A p.Thr1615Met missense ANK1 2 82266 2.43114E-5 41133 0 3.37115E-5
8-41530255-C-T p.Ala1612Ala synonymous ANK1 23 82186 2.79853E-4 41093 0 6.36943E-4
8-41530256-G-A p.Ala1612Val missense ANK1 2 82154 2.43445E-5 41077 0 3.38874E-5
8-41530267-C-T p.Gln1608Gln synonymous ANK1 1 82180 1.21684E-5 41090 0 4.08928E-6
8-41530288-C-T p.Met1601Ile missense ANK1 1 82010 1.21936E-5 41005 0 4.11709E-6
8-41530298-T-A p.His1598Leu missense ANK1 1 81960 1.22011E-5 40980 0 NA
8-41530303-C-T p.Thr1596Thr synonymous ANK1 9 81822 1.09995E-4 40911 0 0.00125
8-41530309-C-T p.Ala1594Ala synonymous ANK1 1 81804 1.22243E-5 40902 0 3.18431E-5
8-41530310-G-A p.Ala1594Val missense ANK1 2 81788 2.44535E-5 40894 0 6.36943E-5
8-41530315-G-C p.Pro1592Pro synonymous ANK1 1 81878 1.22133E-5 40939 0 8.57736E-6
8-41530323-C-T p.Ala1590Thr missense ANK1 2 81778 2.44565E-5 40889 0 1.22328E-5
8-41530326-C-A p.Asp1589Tyr missense ANK1 1 81802 1.22246E-5 40901 0 NA
8-41530329-G-C p.Leu1588Val missense ANK1 2 81770 2.44588E-5 40885 0 5.03525E-4
8-41530332-C-T p.Val1587Ile missense ANK1 5 81708 6.11935E-5 40854 0 9.46416E-5
8-41530333-G-A p.Ala1586Ala synonymous ANK1 6 81650 7.34844E-5 40825 0 5.15685E-5
8-41530347-A-G p.Trp1582Arg missense ANK1 1 81520 1.22669E-5 40760 0 5.25091E-5
8-41530352-T-C p.Gln1580Arg missense ANK1 1 81422 1.22817E-5 40711 0 4.04236E-6
8-41530353-G-T p.Gln1580Lys missense ANK1 1 81392 1.22862E-5 40696 0 NA
8-41530361-C-T p.Arg1577His missense ANK1 1 81078 1.23338E-5 40539 0 6.37024E-5
8-41530361-C-G p.Arg1577Pro missense ANK1 1 81078 1.23338E-5 40539 0 9.49504E-5
8-41530362-G-A p.Arg1577Cys missense ANK1 86 81052 0.00106105 40526 0 0.0011462
8-41530378-T-G p.Ala1571Ala synonymous ANK1 1 80458 1.24288E-5 40229 0 4.09407E-6
8-41530385-C-G p.Gly1569Ala missense ANK1 5 79966 6.25266E-5 39983 0 3.53213E-5
8-41530395-C-G p.Ala1566Pro missense ANK1 4 79398 5.03791E-5 39699 0 NA
8-41530399-G-A p.Ser1564Ser synonymous ANK1 1 79234 1.26208E-5 39617 0 3.1841E-5
8-41530410-C-G p.Glu1561Gln missense ANK1 5 78326 6.38358E-5 39163 0 2.53293E-5
8-41530410-C-T p.Glu1561Lys missense ANK1 2 78326 2.55343E-5 39163 0 9.60836E-6
8-41530411-G-A p.Asp1560Asp synonymous ANK1 2 78160 2.55885E-5 39080 0 6.3674E-5
8-41530415-T-C p.Gln1559Arg missense ANK1 2 77974 2.56496E-5 38987 0 NA
8-41530424-G-C p.Ser1556Cys missense ANK1 1 77074 1.29745E-5 38537 0 6.36659E-5
8-41530427-T-G p.Tyr1555Ser missense ANK1 2 76682 2.60817E-5 38341 0 3.01433E-5
8-41530431-C-CATTCATCTGGGAGGGTGACAGCGAGTAGTCGCGGTCGG c.4661-2_4661-1insCCGACCGCGACTACTCGCTGTCACCCTCCCAGATGAAT splice_acceptor ANK1 2 76318 2.62061E-5 38159 1 NA
8-41530436-T-C c.4661-6A>G splice_region ANK1 3 75620 3.9672E-5 37810 0 6.36902E-5
8-41542066-C-T p.Met1552Ile missense ANK1 1 83088 1.20354E-5 41544 0 NA
8-41542067-A-C p.Met1552Arg missense ANK1 1 83088 1.20354E-5 41544 0 NA
8-41542073-G-A p.Ser1550Phe missense ANK1 2 83116 2.40628E-5 41558 0 NA
8-41542084-C-T p.Ser1546Ser synonymous ANK1 2 83094 2.40691E-5 41547 0 3.18512E-5
8-41542085-G-A p.Ser1546Leu missense ANK1 1 83118 1.20311E-5 41559 0 8.25464E-6
8-41542092-C-T p.Asp1544Asn missense ANK1 2 83110 2.40645E-5 41555 0 3.18532E-5
8-41542093-G-A p.Arg1543Arg synonymous ANK1 1765 83064 0.0212487 41532 20 0.0227021
8-41542094-C-T p.Arg1543His missense ANK1 6 83108 7.21952E-5 41554 0 5.03525E-4
8-41542095-G-A p.Arg1543Cys missense ANK1 5 83118 6.01554E-5 41559 0 0.00125
8-41542098-C-T p.Asp1542Asn missense ANK1 1 83098 1.2034E-5 41549 0 1.19525E-5
8-41542098-C-A p.Asp1542Tyr missense ANK1 1 83098 1.2034E-5 41549 0 NA
8-41542099-G-A p.Thr1541Thr synonymous ANK1 4 83102 4.81336E-5 41551 0 1.99251E-5
8-41542102-G-A p.His1540His synonymous ANK1 1 83130 1.20294E-5 41565 0 3.98422E-6
8-41542106-C-T p.Arg1539Gln missense ANK1 10 83142 1.20276E-4 41571 0 6.37024E-5
8-41542107-G-A p.Arg1539Trp missense ANK1 2 83156 2.40512E-5 41578 0 6.37186E-5
8-41542108-C-T p.Arg1538Arg synonymous ANK1 3 83158 3.60759E-5 41579 0 5.03525E-4
8-41542123-G-T p.Asn1533Lys missense ANK1 1 83186 1.20213E-5 41593 0 NA
8-41542124-T-C p.Asn1533Ser missense ANK1 1 83186 1.20213E-5 41593 0 NA
8-41542125-T-C p.Asn1533Asp missense ANK1 1 83178 1.20224E-5 41589 0 NA
8-41542127-C-T p.Arg1532His missense ANK1 7 83188 8.41468E-5 41594 0 1.27405E-4
8-41542127-C-G p.Arg1532Pro missense ANK1 1 83188 1.2021E-5 41594 0 NA
8-41542128-G-A p.Arg1532Cys missense ANK1 1 83174 1.2023E-5 41587 0 8.24851E-6
8-41542133-T-C p.Gln1530Arg missense ANK1 1 83184 1.20215E-5 41592 0 NA
8-41542138-G-A p.Gly1528Gly synonymous ANK1 4 83182 4.80873E-5 41591 0 2.38928E-5
8-41542141-G-A p.Ser1527Ser synonymous ANK1 4 83184 4.80862E-5 41592 0 2.23058E-4
8-41542145-C-A p.Gly1526Val missense ANK1 1 83198 1.20195E-5 41599 0 NA
8-41542147-C-G p.Glu1525Asp missense ANK1 1 83200 1.20192E-5 41600 0 NA
8-41542151-A-C p.Leu1524Arg missense ANK1 60 83198 7.21171E-4 41599 0 6.25E-4
8-41542154-A-G p.Met1523Thr missense ANK1 1 83206 1.20184E-5 41603 0 3.97966E-6
8-41542160-A-G p.Val1521Ala missense ANK1 1 83194 1.20201E-5 41597 0 3.98004E-6
8-41542163-A-G p.Ile1520Thr missense ANK1 2 83186 2.40425E-5 41593 0 NA
8-41542167-C-T p.Glu1519Lys missense ANK1 4 83204 4.80746E-5 41602 0 3.29815E-5
8-41542172-C-A p.Arg1517Leu missense ANK1 4 83164 4.80977E-5 41582 0 3.18492E-5
8-41542172-C-T p.Arg1517His missense ANK1 3 83164 3.60733E-5 41582 0 8.2447E-6
8-41542173-G-A p.Arg1517Cys missense ANK1 4 83158 4.81012E-5 41579 1 4.1229E-5
8-41542178-A-G p.Ile1515Thr missense ANK1 2 83176 2.40454E-5 41588 0 3.18573E-5
8-41542181-C-T p.Ser1514Asn missense ANK1 3 83178 3.60672E-5 41589 0 3.98067E-6
8-41542204-C-G p.Glu1506Asp missense ANK1 1 83002 1.20479E-5 41501 0 NA
8-41542208-A-ATGTTTGCGTTTTGGCCTTCACGGATGACC c.4514-1_4514insGGTCATCCGTGAAGGCCAAAACGCAAACA splice_acceptor ANK1 2 82946 2.41121E-5 41473 1 NA
8-41542216-C-T c.4514-8G>A splice_region ANK1 1 82762 1.20828E-5 41381 0 3.98603E-6
8-41543662-G-A c.4513+8C>T splice_region ANK1 1 83316 1.20025E-5 41658 0 NA
8-41543675-G-A p.Ala1503Val missense ANK1 1762 83310 0.0211499 41655 21 0.0226806
8-41543676-C-T p.Ala1503Thr missense ANK1 10 83362 1.19959E-4 41681 0 6.25E-4
8-41543677-G-A p.Asn1502Asn synonymous ANK1 2 83366 2.39906E-5 41683 0 1.64737E-5
8-41543690-C-T p.Arg1498His missense ANK1 7 83376 8.3957E-5 41688 0 1.07077E-4
8-41543695-G-A p.Val1496Val synonymous ANK1 1 83368 1.1995E-5 41684 0 1.64731E-5
8-41543719-A-G p.Ser1488Ser synonymous ANK1 6 83376 7.19632E-5 41688 0 1.91278E-4
8-41543726-TC-T p.Glu1486fs frameshift ANK1 1 83364 1.19956E-5 41682 0 NA
8-41543731-C-T p.Leu1484Leu synonymous ANK1 2 83378 2.39871E-5 41689 0 NA
8-41543755-G-A p.Ile1476Ile synonymous ANK1 2 83374 2.39883E-5 41687 0 NA
8-41543788-C-A p.Glu1465Asp missense ANK1 1 83266 1.20097E-5 41633 0 NA
8-41543793-G-A p.Arg1464Trp missense ANK1 3 83216 3.60508E-5 41608 0 3.97744E-6
8-41543803-T-G c.4382-2A>C splice_acceptor ANK1 1 83140 1.20279E-5 41570 0 3.97731E-6
8-41543805-C-T c.4382-4G>A splice_region ANK1 1 83098 1.2034E-5 41549 0 NA
8-41545682-C-G p.Ser1458Thr missense ANK1 2 83320 2.40038E-5 41660 0 6.36943E-5
8-41545689-C-T p.Gly1456Ser missense ANK1 2 83334 2.39998E-5 41667 0 3.29457E-5
8-41545693-G-A p.His1454His synonymous ANK1 1 83348 1.19979E-5 41674 0 3.97636E-6
8-41545707-C-T p.Val1450Ile missense ANK1 7 83368 8.39651E-5 41684 0 3.70639E-4
8-41545743-G-A p.Leu1438Phe missense ANK1 1 83346 1.19982E-5 41673 0 NA
8-41545744-A-G p.Ser1437Ser synonymous ANK1 2 83346 2.39964E-5 41673 0 7.95273E-6
8-41545752-G-GTGTGGACTCACTGAGAATGCTGTATCGCAGGGCCA c.4307-5_4307-4insTGGCCCTGCGATACAGCATTCTCAGTGAGTCCACA splice_region ANK1 2 83330 2.4001E-5 41665 1 NA
8-41545752-G-C c.4307-4C>G splice_region ANK1 3 83336 3.59988E-5 41668 0 2.78354E-5
8-41546021-G-A c.4306+8C>T splice_region ANK1 1 83228 1.20152E-5 41614 0 NA
8-41546024-C-T c.4306+5G>A splice_region ANK1 2 83232 2.40292E-5 41616 0 0.00125
8-41546025-G-A c.4306+4C>T splice_region ANK1 1 83240 1.20135E-5 41620 0 3.18492E-5
8-41546026-T-C c.4306+3A>G splice_region ANK1 2 83258 2.40217E-5 41629 0 3.9769E-6
8-41546037-G-C p.Ser1433Cys missense ANK1 1 83294 1.20057E-5 41647 0 NA
8-41546041-C-T p.Glu1432Lys missense ANK1 2 83304 2.40085E-5 41652 0 NA
8-41546043-C-T p.Ser1431Asn missense ANK1 1 83300 1.20048E-5 41650 0 NA
8-41546051-G-C p.Ser1428Arg missense ANK1 2 83324 2.40027E-5 41662 1 NA
8-41546052-C-T p.Ser1428Asn missense ANK1 1 83322 1.20016E-5 41661 0 6.36983E-5
8-41546056-A-G p.Tyr1427His missense ANK1 18 83322 2.16029E-4 41661 0 4.77859E-4
8-41546072-C-T p.Thr1421Thr synonymous ANK1 1 83302 1.20045E-5 41651 0 3.18776E-5
8-41546073-G-A p.Thr1421Met missense ANK1 4 83298 4.80204E-5 41649 0 5.78082E-5
8-41546076-G-A p.Pro1420Leu missense ANK1 1 83280 1.20077E-5 41640 0 4.13005E-5
8-41546079-G-A p.Thr1419Ile missense ANK1 1 83278 1.2008E-5 41639 0 NA
8-41546081-CCTT-C p.Arg1418del disruptive_inframe_deletion ANK1 1 83272 1.20088E-5 41636 0 0.00100705
8-41546084-TCTC-T p.Arg1417del disruptive_inframe_deletion ANK1 2 83268 2.40188E-5 41634 0 4.13585E-5
8-41546086-T-C p.Arg1417Gly missense ANK1 1 83272 1.20088E-5 41636 0 NA
8-41546095-C-T p.Glu1414Lys missense ANK1 2 83246 2.40252E-5 41623 0 3.18532E-5
8-41546096-G-A p.Ala1413Ala synonymous ANK1 5 83226 6.00774E-5 41613 0 9.5584E-5
8-41546112-A-C c.4228-5T>G splice_region ANK1 14 83130 1.68411E-4 41565 0 2.00965E-4
8-41547748-G-A p.Ala1408Ala synonymous ANK1 8810 82926 0.106239 41463 1113 0.169016
8-41547750-C-T p.Ala1408Thr missense ANK1 33 83222 3.9653E-4 41611 0 0.00100705
8-41547751-G-A p.Cys1407Cys synonymous ANK1 18 83230 2.16268E-4 41615 0 1.90925E-4
8-41547753-A-AG p.Cys1407fs frameshift ANK1 2 83258 2.40217E-5 41629 0 NA
8-41547756-G-A p.Pro1406Ser missense ANK1 2 83268 2.40188E-5 41634 0 5.03525E-4
8-41547757-G-A p.Pro1405Pro synonymous ANK1 1 83276 1.20083E-5 41638 0 8.2447E-6
8-41547759-G-A p.Pro1405Ser missense ANK1 1 83272 1.20088E-5 41636 0 8.24334E-6
8-41547788-T-G p.His1395Pro missense ANK1 1 83358 1.19964E-5 41679 0 8.23778E-6
8-41547794-G-T p.Thr1393Asn missense ANK1 3 83372 3.59833E-5 41686 0 NA
8-41547802-G-A p.Tyr1390Tyr synonymous ANK1 3 83378 3.59807E-5 41689 0 4.11862E-5
8-41547811-C-T p.Ala1387Ala synonymous ANK1 1 83388 1.19921E-5 41694 0 5.03525E-4
8-41547812-G-A p.Ala1387Val missense ANK1 2 83390 2.39837E-5 41695 0 7.95267E-6
8-41547812-G-T p.Ala1387Glu missense ANK1 1 83390 1.19918E-5 41695 0 NA
8-41547813-C-A p.Ala1387Ser missense ANK1 1 83388 1.19921E-5 41694 0 NA
8-41547818-C-T p.Arg1385His missense ANK1 1 83394 1.19913E-5 41697 0 3.29478E-5
8-41547819-G-A p.Arg1385Cys missense ANK1 3 83396 3.59729E-5 41698 0 3.18107E-5
8-41547822-G-C p.Leu1384Val missense ANK1 1 83394 1.19913E-5 41697 0 NA
8-41547826-C-T p.Ser1382Ser synonymous ANK1 2 83392 2.39831E-5 41696 0 3.18573E-5
8-41547826-C-G p.Ser1382Ser synonymous ANK1 2 83392 2.39831E-5 41696 0 8.23683E-6
8-41547827-G-A p.Ser1382Leu missense ANK1 115 83390 0.00137906 41695 1 0.00100705
8-41547832-G-A p.Ser1380Ser synonymous ANK1 3 83388 3.59764E-5 41694 0 5.03525E-4
8-41547841-C-T p.Pro1377Pro synonymous ANK1 1107 83372 0.0132778 41686 17 0.0134756
8-41547842-G-A p.Pro1377Leu missense ANK1 2 83384 2.39854E-5 41692 0 6.25E-4
8-41547846-C-G p.Glu1376Gln missense ANK1 3 83392 3.59747E-5 41696 0 NA
8-41547986-C-A c.4107+6G>T splice_region ANK1 7 83334 8.39993E-5 41667 0 6.36943E-5
8-41548000-G-A p.Pro1367Ser missense ANK1 5 83368 5.9975E-5 41684 0 7.5569E-5
8-41548003-T-C p.Met1366Val missense ANK1 1849 83338 0.0221868 41669 57 0.0394737
8-41548007-C-T p.Leu1364Leu synonymous ANK1 1 83370 1.19947E-5 41685 0 1.07289E-4
8-41548021-G-A p.Arg1360Trp missense ANK1 16 83362 1.91934E-4 41681 0 2.7445E-4
8-41548035-T-G p.His1355Pro missense ANK1 3 83360 3.59885E-5 41680 0 3.18573E-5
8-41548044-C-T p.Arg1352Gln missense ANK1 7 83346 8.39872E-5 41673 0 6.76294E-5
8-41548045-G-A p.Arg1352Trp missense ANK1 1 83342 1.19988E-5 41671 0 4.13162E-5
8-41548046-C-T p.Gln1351Gln synonymous ANK1 2 83352 2.39946E-5 41676 0 5.03525E-4
8-41548048-G-C p.Gln1351Glu missense ANK1 1 83348 1.19979E-5 41674 0 NA
8-41548049-C-G p.Gln1350His missense ANK1 1 83350 1.19976E-5 41675 0 3.97817E-6
8-41548064-C-T p.Val1345Val synonymous ANK1 1 83360 1.19962E-5 41680 0 3.97931E-6
8-41548071-A-T p.Val1343Glu missense ANK1 1 83338 1.19993E-5 41669 0 1.43284E-4
8-41548074-A-G p.Leu1342Pro missense ANK1 1 83338 1.19993E-5 41669 0 NA
8-41548079-C-A p.Gly1340Gly synonymous ANK1 1 83322 1.20016E-5 41661 0 2.86569E-4
8-41548083-G-C p.Ser1339Cys missense ANK1 1 83322 1.20016E-5 41661 0 NA
8-41548092-G-A p.Ala1336Val missense ANK1 1 83280 1.20077E-5 41640 0 NA
8-41548100-G-C p.Ser1333Ser synonymous ANK1 1 83228 1.20152E-5 41614 0 3.99281E-6
8-41548102-A-C p.Ser1333Ala missense ANK1 1 83214 1.20172E-5 41607 0 NA
8-41548118-C-CTCTA c.3982-2_3982-1insTAGA splice_acceptor ANK1 10 82938 1.20572E-4 41469 5 NA
8-41550169-TA-CT p.Ile1326Lys missense ANK1 2 83140 2.40558E-5 41570 0 NA
8-41550181-C-A p.Arg1322Arg synonymous ANK1 3 83256 3.60334E-5 41628 0 NA
8-41550190-C-T p.Glu1319Glu synonymous ANK1 1 83294 1.20057E-5 41647 0 NA
8-41550194-A-G p.Val1318Ala missense ANK1 1 83304 1.20042E-5 41652 0 3.97735E-6
8-41550195-C-T p.Val1318Met missense ANK1 96 83304 0.00115241 41652 0 8.24756E-4
8-41550195-C-G p.Val1318Leu missense ANK1 5 83308 6.00182E-5 41654 0 6.27353E-4
8-41550196-G-A p.Phe1317Phe synonymous ANK1 6 83318 7.20133E-5 41659 0 9.56023E-5
8-41550208-C-T p.Gln1313Gln synonymous ANK1 1 83338 1.19993E-5 41669 0 NA
8-41550211-C-T p.Glu1312Glu synonymous ANK1 433 83336 0.00519583 41668 7 0.0122371
8-41550216-G-A p.Leu1311Leu synonymous ANK1 2 83336 2.39992E-5 41668 0 1.98851E-5
8-41550243-T-C p.Met1302Val missense ANK1 1 83336 1.19996E-5 41668 0 NA
8-41550248-T-C p.Tyr1300Cys missense ANK1 1 83320 1.20019E-5 41660 0 NA
8-41550254-C-T p.Arg1298His missense ANK1 1 83302 1.20045E-5 41651 0 4.94421E-5
8-41550260-C-T p.Arg1296His missense ANK1 1 83282 1.20074E-5 41641 0 3.18837E-5
8-41550261-G-A p.Arg1296Cys missense ANK1 12 83278 1.44096E-4 41639 0 3.82555E-4
8-41550269-C-T p.Arg1293Gln missense ANK1 5 83240 6.00673E-5 41620 1 NA
8-41550270-G-A p.Arg1293* stop_gained ANK1 1 83220 1.20163E-5 41610 0 NA
8-41550281-A-T p.Met1289Lys missense ANK1 1 83142 1.20276E-5 41571 0 NA
8-41550297-C-T p.Val1284Ile missense ANK1 12 82942 1.44679E-4 41471 0 1.27559E-4
8-41550301-T-G p.Lys1282Asn missense ANK1 2 82860 2.41371E-5 41430 0 NA
8-41550307-C-A p.Met1280Ile missense ANK1 2 82748 2.41698E-5 41374 1 NA
8-41550313-G-T p.Pro1278Pro synonymous ANK1 1 82658 1.2098E-5 41329 0 NA
8-41550319-T-C p.Ala1276Ala synonymous ANK1 2 82502 2.42418E-5 41251 0 NA
8-41550334-G-A p.Tyr1271Tyr synonymous ANK1 7 82198 8.51602E-5 41099 0 NA
8-41550343-G-C p.Thr1268Thr synonymous ANK1 2 81980 2.43962E-5 40990 0 3.18756E-5
8-41550356-A-G p.Val1264Ala missense ANK1 18 81744 2.202E-4 40872 0 0.00114281
8-41550358-A-G p.Ala1263Ala synonymous ANK1 2 81714 2.44756E-5 40857 0 8.28322E-6
8-41550366-C-T p.Ala1261Thr missense ANK1 1 81542 1.22636E-5 40771 0 NA
8-41550371-C-T p.Arg1259Gln missense ANK1 3 81436 3.68387E-5 40718 0 6.64375E-5
8-41550372-G-A p.Arg1259Trp missense ANK1 15 81436 1.84194E-4 40718 0 0.00125
8-41550376-A-G p.Cys1257Cys synonymous ANK1 1 81366 1.22901E-5 40683 0 NA
8-41550382-C-T p.Ser1255Ser synonymous ANK1 1 81286 1.23022E-5 40643 0 6.39933E-5
8-41550382-C-G p.Ser1255Ser synonymous ANK1 2 81286 2.46045E-5 40643 0 8.33472E-6
8-41550385-C-T p.Leu1254Leu synonymous ANK1 1 81196 1.23159E-5 40598 0 NA
8-41550615-C-T c.3752+8G>A splice_region ANK1 2 83150 2.40529E-5 41575 0 3.97703E-6
8-41550631-G-A p.Val1248Val synonymous ANK1 1 83300 1.20048E-5 41650 0 1.19293E-5
8-41550652-G-A p.Cys1241Cys synonymous ANK1 2 83338 2.39987E-5 41669 0 1.59317E-4
8-41550657-C-T p.Glu1240Lys missense ANK1 1 83336 1.19996E-5 41668 0 1.64753E-5
8-41550658-G-A p.Asn1239Asn synonymous ANK1 8 83340 9.59923E-5 41670 0 2.54842E-4
8-41550682-T-G p.Gly1231Gly synonymous ANK1 3 83340 3.59971E-5 41670 0 3.18573E-4
8-41550696-C-T p.Glu1227Lys missense ANK1 1 83310 1.20034E-5 41655 0 8.23696E-6
8-41550700-C-T p.Gln1225Gln synonymous ANK1 1 83300 1.20048E-5 41650 0 3.18431E-5
8-41551423-G-A p.Ser1216Ser synonymous ANK1 1 79916 1.25131E-5 39958 0 NA
8-41551461-C-T p.Gly1204Arg missense ANK1 4 80742 4.95405E-5 40371 0 2.01125E-5
8-41551462-G-A p.Ser1203Ser synonymous ANK1 1629 80566 0.0202194 40283 83 0.0358782
8-41551468-C-G p.Arg1201Ser missense ANK1 1 80768 1.23811E-5 40384 0 8.96186E-6
8-41551471-C-T p.Pro1200Pro synonymous ANK1 4 80736 4.95442E-5 40368 0 7.61102E-5
8-41551474-G-T p.Asn1199Lys missense ANK1 1 80770 1.23808E-5 40385 0 8.71916E-6
8-41551475-T-C p.Asn1199Ser missense ANK1 1 80704 1.2391E-5 40352 0 8.70125E-6
8-41551479-C-T p.Asp1198Asn missense ANK1 1 80780 1.23793E-5 40390 0 5.04032E-4
8-41551480-G-A p.Thr1197Thr synonymous ANK1 3 80764 3.71453E-5 40382 0 0.00125156
8-41551482-TC-T p.Trp1196fs frameshift ANK1 2 80804 2.47513E-5 40402 0 NA
8-41551484-C-T p.Trp1196* stop_gained ANK1 1 80814 1.23741E-5 40407 0 NA
8-41551491-G-A p.Pro1194Ser missense ANK1 1 80988 1.23475E-5 40494 0 1.69236E-5
8-41551505-C-T p.Arg1189Gln missense ANK1 7 80928 8.64966E-5 40464 0 5.03525E-4
8-41551506-G-A p.Arg1189Trp missense ANK1 1 80912 1.23591E-5 40456 0 3.18695E-5
8-41551521-G-T p.Arg1184Ser missense ANK1 5 80900 6.18047E-5 40450 0 3.98498E-6
8-41551521-G-A p.Arg1184Cys missense ANK1 3 80900 3.70828E-5 40450 0 2.39099E-5
8-41551535-C-T p.Arg1179His missense ANK1 1 80646 1.23999E-5 40323 0 3.18695E-5
8-41551548-C-T p.Val1175Met missense ANK1 2 80484 2.48497E-5 40242 0 6.37227E-5
8-41551549-G-A p.Thr1174Thr synonymous ANK1 325 80420 0.00404128 40210 0 0.00633919
8-41551556-A-G p.Ile1172Thr missense ANK1 1 80356 1.24446E-5 40178 0 9.1984E-5
8-41551606-C-T p.Pro1155Pro synonymous ANK1 5 77774 6.42888E-5 38887 0 9.66099E-5
8-41551606-C-A p.Pro1155Pro synonymous ANK1 1 77774 1.28578E-5 38887 0 1.00203E-4
8-41551607-G-A p.Pro1155Leu missense ANK1 1 77758 1.28604E-5 38879 0 1.1644E-4
8-41551623-G-A c.3451-3C>T splice_region ANK1 1 75872 1.31801E-5 37936 0 1.88693E-5
8-41552102-G-A c.3450+8C>T splice_region ANK1 2 79314 2.52162E-5 39657 0 NA
8-41552115-G-A p.Leu1149Leu synonymous ANK1 1 80524 1.24187E-5 40262 0 NA
8-41552117-G-A p.Ala1148Val missense ANK1 2 80664 2.47942E-5 40332 0 2.69068E-5
8-41552123-T-C p.Lys1146Arg missense ANK1 1 81102 1.23302E-5 40551 0 NA
8-41552129-C-T p.Arg1144Lys missense ANK1 1 81368 1.22898E-5 40684 0 3.99084E-6
8-41552136-T-G p.Thr1142Pro missense ANK1 1 81478 1.22733E-5 40739 0 NA
8-41552139-C-T p.Val1141Ile missense ANK1 1 81632 1.22501E-5 40816 0 1.91266E-4
8-41552140-G-A p.Ala1140Ala synonymous ANK1 1 81662 1.22456E-5 40831 0 2.39351E-5
8-41552149-C-T p.Pro1137Pro synonymous ANK1 4 82120 4.87092E-5 41060 0 1.59368E-4
8-41552155-C-T p.Thr1135Thr synonymous ANK1 37 82322 4.49455E-4 41161 0 2.15121E-4
8-41552156-G-A p.Thr1135Met missense ANK1 2 82372 2.42801E-5 41186 0 NA
8-41552157-T-C p.Thr1135Ala missense ANK1 1 82446 1.21292E-5 41223 0 NA
8-41552168-A-G p.Leu1131Pro missense ANK1 2 82732 2.41744E-5 41366 0 NA
8-41552175-C-T p.Val1129Met missense ANK1 1 82822 1.20741E-5 41411 0 NA
8-41552202-C-T p.Glu1120Lys missense ANK1 2 83096 2.40685E-5 41548 0 6.37552E-5
8-41552203-G-A p.Pro1119Pro synonymous ANK1 32 83108 3.85041E-4 41554 0 6.37511E-5
8-41552204-G-C p.Pro1119Arg missense ANK1 2 83128 2.40593E-5 41564 0 NA
8-41552208-C-T p.Gly1118Ser missense ANK1 2 83152 2.40523E-5 41576 0 8.2739E-6
8-41552208-C-G p.Gly1118Arg missense ANK1 12 83152 1.44314E-4 41576 0 2.31669E-4
8-41552209-G-A p.Ile1117Ile synonymous ANK1 4 83174 4.8092E-5 41587 0 0.00100705
8-41552211-T-C p.Ile1117Val missense ANK1 6 83188 7.21258E-5 41594 0 5.56895E-5
8-41552213-G-A p.Thr1116Ile missense ANK1 508 83182 0.00610709 41591 8 0.0119215
8-41552217-C-T p.Asp1115Asn missense ANK1 1 83216 1.20169E-5 41608 0 7.43716E-5
8-41552218-G-A p.Tyr1114Tyr synonymous ANK1 1 83218 1.20166E-5 41609 0 8.2631E-6
8-41552221-G-A p.Asp1113Asp synonymous ANK1 2 83230 2.40298E-5 41615 0 NA
8-41552234-C-T p.Arg1109Gln missense ANK1 1 83266 1.20097E-5 41633 0 3.18796E-5
8-41552257-C-T p.Pro1101Pro synonymous ANK1 1 83274 1.20085E-5 41637 0 4.12541E-5
8-41552263-G-T p.Asp1099Glu missense ANK1 1 83292 1.2006E-5 41646 0 6.37389E-5
8-41552265-C-T p.Asp1099Asn missense ANK1 1 83294 1.20057E-5 41647 0 2.47508E-5
8-41552266-G-C p.Thr1098Thr synonymous ANK1 1 83284 1.20071E-5 41642 0 NA
8-41552267-G-A p.Thr1098Ile missense ANK1 4 83286 4.80273E-5 41643 0 3.57918E-5
8-41552283-A-G p.Cys1093Arg missense ANK1 1 83264 1.201E-5 41632 0 NA
8-41552288-C-T p.Arg1091Lys missense ANK1 1 83256 1.20111E-5 41628 0 NA
8-41552301-G-A p.Leu1087Leu synonymous ANK1 1 83216 1.20169E-5 41608 0 NA
8-41552302-C-T p.Glu1086Glu synonymous ANK1 1 83212 1.20175E-5 41606 0 NA
8-41552323-T-TTCGTCCATCCCGTTGA c.3239-3_3239-2insTCAACGGGATGGACGA splice_region ANK1 2 83106 2.40657E-5 41553 1 NA
8-41552324-G-T c.3239-3C>A splice_region ANK1 1 83076 1.20372E-5 41538 0 NA
8-41552327-A-C c.3239-6T>G splice_region ANK1 1 83060 1.20395E-5 41530 0 NA
8-41552688-C-T c.3238+7G>A splice_region ANK1 1 83066 1.20386E-5 41533 0 NA
8-41552690-C-T c.3238+5G>A splice_region ANK1 6 83084 7.22161E-5 41542 0 1.82952E-4
8-41552699-G-T p.Asp1078Glu missense ANK1 3 83104 3.60993E-5 41552 0 7.95355E-6
8-41552699-G-A p.Asp1078Asp synonymous ANK1 2 83104 2.40662E-5 41552 0 5.76777E-5
8-41552705-C-T p.Gly1076Gly synonymous ANK1 8 83138 9.62256E-5 41569 0 2.54858E-4
8-41552708-G-A p.Asn1075Asn synonymous ANK1 77 83110 9.26483E-4 41555 0 9.56206E-4
8-41552716-T-A p.Ile1073Phe missense ANK1 1 83174 1.2023E-5 41587 0 NA
8-41552720-A-G p.Asp1071Asp synonymous ANK1 2 83182 2.40437E-5 41591 0 8.23981E-6
8-41552728-A-G p.Tyr1069His missense ANK1 1 83178 1.20224E-5 41589 0 NA
8-41552732-C-A p.Glu1067Asp missense ANK1 3 83172 3.60698E-5 41586 0 NA
8-41552735-T-C p.Gly1066Gly synonymous ANK1 1 83166 1.20241E-5 41583 0 3.9764E-6
8-41552742-C-T p.Arg1064His missense ANK1 1 83166 1.20241E-5 41583 0 3.18573E-5
8-41552743-G-A p.Arg1064Cys missense ANK1 11 83164 1.32269E-4 41582 0 6.36983E-5
8-41552762-C-T p.Val1057Val synonymous ANK1 1 83078 1.20369E-5 41539 0 1.19309E-5
8-41552764-C-T p.Val1057Met missense ANK1 2 83084 2.4072E-5 41542 0 6.37105E-5
8-41552765-G-A p.Ser1056Ser synonymous ANK1 16 83062 1.92627E-4 41531 0 1.23673E-4
8-41552771-G-A p.Asn1054Asn synonymous ANK1 5 83126 6.01497E-5 41563 0 6.37227E-5
8-41552776-C-T p.Glu1053Lys missense ANK1 4 83138 4.81128E-5 41569 0 3.97678E-6
8-41552777-G-A p.Ser1052Ser synonymous ANK1 169 83122 0.00203316 41561 0 0.00353886
8-41552791-C-T p.Val1048Met missense ANK1 8 83118 9.62487E-5 41559 0 5.32913E-4
8-41552798-G-A p.Arg1045Arg synonymous ANK1 2 83130 2.40587E-5 41565 0 6.25E-4
8-41552799-C-T p.Arg1045His missense ANK1 1 83114 1.20317E-5 41557 0 2.47423E-5
8-41552808-C-T p.Arg1042His missense ANK1 1 83114 1.20317E-5 41557 0 3.57972E-5
8-41552810-G-A p.Gly1041Gly synonymous ANK1 1 83098 1.2034E-5 41549 0 3.97763E-6
8-41552814-T-C p.His1040Arg missense ANK1 2 83096 2.40685E-5 41548 0 2.47488E-5
8-41552821-C-T p.Ala1038Thr missense ANK1 1 83046 1.20415E-5 41523 0 NA
8-41552828-C-T p.Pro1035Pro synonymous ANK1 26 82980 3.13329E-4 41490 0 2.54617E-4
8-41552829-G-A p.Pro1035Leu missense ANK1 2 82986 2.41005E-5 41493 0 NA
8-41552831-G-T p.Ile1034Ile synonymous ANK1 1 82946 1.2056E-5 41473 0 NA
8-41552839-C-T p.Val1032Met missense ANK1 1 82824 1.20738E-5 41412 0 8.26433E-6
8-41552840-G-A p.Ile1031Ile synonymous ANK1 437 82728 0.00528237 41364 5 0.0102965
8-41552842-T-C p.Ile1031Val missense ANK1 3 82746 3.62555E-5 41373 0 NA
8-41553894-C-A p.Ala1024Ser missense ANK1 6 81236 7.38589E-5 40618 0 7.61499E-5
8-41553898-C-T p.Thr1022Thr synonymous ANK1 6 81472 7.36449E-5 40736 0 5.91706E-5
8-41553899-G-A p.Thr1022Met missense ANK1 1 81502 1.22696E-5 40751 0 8.45109E-5
8-41553928-C-G p.Leu1012Leu synonymous ANK1 34686 80822 0.429165 40411 7938 0.485105
8-41553928-C-A p.Leu1012Leu synonymous ANK1 5 82118 6.0888E-5 41059 0 6.3857E-5
8-41553936-C-T p.Glu1010Lys missense ANK1 1 82210 1.2164E-5 41105 0 NA
8-41553942-C-T p.Glu1008Lys missense ANK1 4 82230 4.8644E-5 41115 0 7.56481E-5
8-41553955-C-A p.Pro1003Pro synonymous ANK1 2 82278 2.43078E-5 41139 0 2.80876E-5
8-41553956-G-A p.Pro1003Leu missense ANK1 2 82352 2.4286E-5 41176 0 3.20919E-5
8-41553958-C-T p.Thr1002Thr synonymous ANK1 1 82278 1.21539E-5 41139 0 6.25E-4
8-41553959-G-A p.Thr1002Met missense ANK1 2 82356 2.42848E-5 41178 0 3.18512E-5
8-41553969-T-C p.Lys999Glu missense ANK1 2 82452 2.42565E-5 41226 0 1.20165E-5
8-41553977-T-C p.Lys996Arg missense ANK1 1 82436 1.21306E-5 41218 0 8.40661E-6
8-41553986-C-T p.Arg993His missense ANK1 2 82374 2.42795E-5 41187 0 4.20373E-5
8-41553996-T-C p.Ile990Val missense ANK1 1 82426 1.21321E-5 41213 0 8.00435E-6
8-41553996-T-G p.Ile990Leu missense ANK1 1 82426 1.21321E-5 41213 0 NA
8-41553997-G-A p.Arg989Arg synonymous ANK1 24 82434 2.91142E-4 41217 0 5.41608E-4
8-41553998-C-T p.Arg989His missense ANK1 2 82394 2.42736E-5 41197 0 3.18674E-5
8-41553999-G-A p.Arg989Cys missense ANK1 3 82412 3.64025E-5 41206 0 2.00171E-5
8-41554006-C-T p.Ala986Ala synonymous ANK1 1 82358 1.21421E-5 41179 0 3.18776E-5
8-41554007-G-A p.Ala986Val missense ANK1 2 82388 2.42754E-5 41194 0 6.37633E-5
8-41554011-C-T p.Ala985Thr missense ANK1 108 82458 0.00130976 41229 0 0.0018797
8-41554012-G-A p.Cys984Cys synonymous ANK1 1 82462 1.21268E-5 41231 0 1.6751E-5
8-41554015-C-T p.Thr983Thr synonymous ANK1 39 82536 4.72521E-4 41268 0 0.00105236
8-41554020-G-A p.Arg982Trp missense ANK1 1 82592 1.21077E-5 41296 0 2.51092E-5
8-41554023-G-T p.Pro981Thr missense ANK1 1 82632 1.21018E-5 41316 0 NA
8-41554025-G-A p.Pro980Leu missense ANK1 2 82646 2.41996E-5 41323 0 NA
8-41554027-G-A p.Ile979Ile synonymous ANK1 3 82602 3.63187E-5 41301 0 6.37633E-5
8-41554037-C-T p.Arg976Gln missense ANK1 1 82538 1.21156E-5 41269 0 1.67045E-5
8-41554039-C-T p.Leu975Leu synonymous ANK1 1 82580 1.21095E-5 41290 0 NA
8-41554042-G-T p.Gly974Gly synonymous ANK1 1 82642 1.21004E-5 41321 0 8.3446E-6
8-41554044-C-T p.Gly974Ser missense ANK1 1 82646 1.20998E-5 41323 0 1.66847E-5
8-41554045-G-A p.Asn973Asn synonymous ANK1 25 82628 3.02561E-4 41314 0 5.42126E-4
8-41554053-G-A p.Arg971Cys missense ANK1 1 82674 1.20957E-5 41337 0 NA
8-41554075-C-A p.Arg963Arg synonymous ANK1 3 82796 3.62336E-5 41398 0 NA
8-41554078-G-A p.Ala962Ala synonymous ANK1 1 82754 1.2084E-5 41377 0 NA
8-41554081-G-A p.Asp961Asp synonymous ANK1 1 82748 1.20849E-5 41374 0 6.25E-4
8-41554084-A-T p.Val960Val synonymous ANK1 3 82776 3.62424E-5 41388 0 8.32071E-6
8-41554087-C-T p.Met959Ile missense ANK1 1 82784 1.20796E-5 41392 0 6.37836E-5
8-41554096-C-T p.Val956Val synonymous ANK1 56 82754 6.76704E-4 41377 0 0.00118022
8-41554103-AACCTAGGAGTGGGGCAGATGCACGTTGGGCTTCTGCATCCCCTCTCGGAGATGGAGACAGGAGTCCCCGAGCCCTGCGCCCGCCACTC-A p.Phe954fs frameshift ANK1 8 82712 9.67212E-5 41356 4 NA
8-41554109-G-A c.2859-4C>T splice_region ANK1 1 82640 1.21007E-5 41320 0 NA
8-41554189-C-T c.2858+5G>A splice_region ANK1 1 82382 1.21386E-5 41191 0 NA
8-41554191-C-T c.2858+3G>A splice_region ANK1 1 82424 1.21324E-5 41212 0 NA
8-41554196-T-G p.Thr952Thr splice_region+synonymous ANK1 1 82506 1.21203E-5 41253 0 NA
8-41554201-G-T p.His951Asn missense ANK1 4 82530 4.84672E-5 41265 0 3.19591E-5
8-41554205-C-T p.Pro949Pro synonymous ANK1 14 82552 1.6959E-4 41276 0 7.57844E-5
8-41554212-G-A p.Ala947Val missense ANK1 6 82564 7.26709E-5 41282 0 4.2106E-5
8-41554216-C-T p.Val946Met missense ANK1 20 82588 2.42166E-4 41294 0 2.77792E-4
8-41554217-C-T p.Pro945Pro synonymous ANK1 1 82576 1.21101E-5 41288 0 8.42063E-6
8-41554218-G-A p.Pro945Leu missense ANK1 2 82602 2.42125E-5 41301 0 8.41992E-6
8-41554224-A-T p.Ile943Asn missense ANK1 1 82638 1.2101E-5 41319 0 NA
8-41554240-C-T p.Glu938Lys missense ANK1 1 82544 1.21148E-5 41272 0 8.43626E-6
8-41554245-G-C p.Ala936Gly missense ANK1 1 82548 1.21142E-5 41274 0 NA
8-41554247-C-G p.Pro935Pro synonymous ANK1 1 82552 1.21136E-5 41276 0 8.45351E-6
8-41554247-C-T p.Pro935Pro synonymous ANK1 2 82552 2.42272E-5 41276 0 5.91746E-5
8-41554281-T-A p.Glu924Val missense ANK1 2 82428 2.42636E-5 41214 0 1.74119E-5
8-41554282-C-T p.Glu924Lys missense ANK1 1 82428 1.21318E-5 41214 0 NA
8-41554290-G-A p.Ala921Val missense+splice_region ANK1 5 82086 6.09117E-5 41043 0 3.19163E-5
8-41554294-G-GCTCCTGCTCTTCTGACCTGATCACCACTGTCTCAGGC c.2761-4_2761-3insGCCTGAGACAGTGGTGATCAGGTCAGAAGAGCAGGAG splice_region ANK1 2 81976 2.43974E-5 40988 1 NA
8-41555580-C-T p.Arg914Lys missense ANK1 3 83056 3.61202E-5 41528 0 5.79653E-5
8-41555587-C-A p.Val912Leu missense ANK1 1 83076 1.20372E-5 41538 0 NA
8-41555609-G-A p.Pro904Pro synonymous ANK1 47 83108 5.65529E-4 41554 0 9.87513E-4
8-41555638-C-T p.Val895Met missense+splice_region ANK1 1 83006 1.20473E-5 41503 0 NA
8-41555639-C-T p.Val894Val splice_region+synonymous ANK1 1 83012 1.20465E-5 41506 0 NA
8-41555643-C-G c.2682-4G>C splice_region ANK1 2 82950 2.41109E-5 41475 0 6.36902E-5
8-41555644-G-A c.2682-5C>T splice_region ANK1 3 82950 3.61664E-5 41475 0 2.07383E-4
8-41556984-C-T p.Pro889Pro synonymous ANK1 10 83140 1.20279E-4 41570 0 3.18613E-5
8-41556985-G-A p.Pro889Leu missense ANK1 1 83138 1.20282E-5 41569 0 3.18695E-5
8-41556989-C-A p.Val888Leu missense ANK1 2 83146 2.40541E-5 41573 0 1.19313E-5
8-41557010-C-T p.Glu881Lys missense ANK1 1 83224 1.20158E-5 41612 0 4.11943E-5
8-41557023-C-T p.Arg876Arg synonymous ANK1 11 83214 1.32189E-4 41607 0 1.64772E-5
8-41557024-C-T p.Arg876Lys missense ANK1 1 83224 1.20158E-5 41612 0 NA
8-41557033-C-T p.Arg873Gln missense ANK1 235 83204 0.00282438 41602 4 0.00627748
8-41557043-C-A p.Ala870Ser missense ANK1 1 83214 1.20172E-5 41607 0 3.97649E-6
8-41557948-C-A c.2584+1G>T splice_donor ANK1 1 82492 1.21224E-5 41246 0 4.01936E-6
8-41557949-C-T p.Gly862Arg missense+splice_region ANK1 1 82496 1.21218E-5 41248 0 NA
8-41557962-A-G p.His857His synonymous ANK1 5 82506 6.06017E-5 41253 0 2.82777E-4
8-41557974-T-C c.2561-2A>G splice_acceptor ANK1 2 82498 2.4243E-5 41249 0 4.01845E-6
8-41557975-G-A c.2561-3C>T splice_region ANK1 1 82498 1.21215E-5 41249 0 NA
8-41559062-C-T c.2560+6G>A splice_region ANK1 1 83280 1.20077E-5 41640 0 NA
8-41559092-T-G p.Ile846Leu missense ANK1 1 83364 1.19956E-5 41682 0 NA
8-41559105-C-T p.Glu841Glu synonymous ANK1 2 83366 2.39906E-5 41683 0 8.23913E-6
8-41559111-G-T p.Phe839Leu missense ANK1 1 83364 1.19956E-5 41682 0 3.97678E-6
8-41559126-C-T p.Lys834Lys synonymous ANK1 252 83340 0.00302376 41670 0 0.00431013
8-41559127-T-G p.Lys834Thr missense ANK1 1 83344 1.19985E-5 41672 0 NA
8-41559128-T-C p.Lys834Glu missense ANK1 1 83348 1.19979E-5 41674 0 1.591E-5
8-41559134-T-G p.Ser832Arg missense ANK1 7 83338 8.39953E-5 41669 0 8.24266E-6
8-41559588-C-A p.Thr823Thr synonymous ANK1 8 82912 9.64878E-5 41456 0 0.001875
8-41559592-A-G p.Val822Ala missense ANK1 1 82962 1.20537E-5 41481 0 NA
8-41559596-C-T p.Val821Ile missense ANK1 1 82980 1.20511E-5 41490 0 NA
8-41559609-G-A p.Thr816Thr synonymous ANK1 19832 82414 0.240639 41207 2686 0.258974
8-41559620-T-C p.Ile813Val missense ANK1 1 83022 1.2045E-5 41511 0 1.65259E-5
8-41559622-T-C p.Tyr812Cys missense ANK1 2 83012 2.40929E-5 41506 0 NA
8-41559629-A-G p.Leu810Leu synonymous ANK1 1 82988 1.20499E-5 41494 0 8.26692E-6
8-41559651-T-C p.Thr802Thr synonymous ANK1 2 82756 2.41674E-5 41378 0 NA
8-41559655-G-T p.Thr801Asn missense ANK1 1 82766 1.20823E-5 41383 0 NA
8-41559662-C-T p.Asp799Asn missense+splice_region ANK1 2 82636 2.42025E-5 41318 0 3.1839E-5
8-41561560-G-A p.Ser798Leu missense+splice_region ANK1 4 82748 4.83395E-5 41374 0 5.03525E-4
8-41561565-G-A p.Val796Val synonymous ANK1 2 82900 2.41255E-5 41450 0 NA
8-41561568-C-G p.Glu795Asp missense ANK1 1 82940 1.20569E-5 41470 0 3.98042E-6
8-41561570-C-T p.Glu795Lys missense ANK1 1 82964 1.20534E-5 41482 0 9.56206E-5
8-41561571-G-A p.Asn794Asn synonymous ANK1 3 82988 3.61498E-5 41494 0 9.5584E-5
8-41561578-G-T p.Ser792Tyr missense ANK1 1 83106 1.20328E-5 41553 0 2.78516E-5
8-41561586-G-A p.Asn789Asn synonymous ANK1 17 83148 2.04455E-4 41574 0 5.03525E-4
8-41561597-G-T p.Leu786Ile missense ANK1 3 83200 3.60577E-5 41600 0 NA
8-41561606-C-T p.Val783Met missense ANK1 1 83212 1.20175E-5 41606 0 1.64777E-5
8-41561607-G-A p.Ile782Ile synonymous ANK1 3 83226 3.60464E-5 41613 0 1.19336E-5
8-41561609-T-C p.Ile782Val missense ANK1 2 83218 2.40333E-5 41609 0 8.23886E-6
8-41561620-C-T p.Gly778Glu missense ANK1 2 83202 2.40379E-5 41601 0 3.29582E-5
8-41561628-G-A p.Ala775Ala synonymous ANK1 1 83196 1.20198E-5 41598 0 NA
8-41561629-G-T p.Ala775Asp missense ANK1 1 83184 1.20215E-5 41592 0 8.2409E-6
8-41561642-G-A p.Leu771Leu synonymous ANK1 1 83144 1.20273E-5 41572 0 3.98238E-6
8-41561643-G-C p.Pro770Pro synonymous ANK1 415 83118 0.0049929 41559 9 0.0110191
8-41561885-C-T c.2295+7G>A splice_region ANK1 2 83140 2.40558E-5 41570 0 2.47541E-5
8-41561886-C-T c.2295+6G>A splice_region ANK1 132 83142 0.00158765 41571 0 0.005625
8-41561891-C-A c.2295+1G>T splice_donor ANK1 1 83154 1.20259E-5 41577 0 NA
8-41561913-T-C p.Ala758Ala synonymous ANK1 1 83206 1.20184E-5 41603 0 NA
8-41561921-G-T p.His756Asn missense ANK1 89 83210 0.00106958 41605 1 0.00251762
8-41561945-T-G p.Lys748Gln missense ANK1 1 83226 1.20155E-5 41613 0 3.97665E-6
8-41561956-T-C p.Tyr744Cys missense ANK1 28 83190 3.36579E-4 41595 0 8.91833E-4
8-41561970-A-G p.His739His synonymous ANK1 1 83140 1.20279E-5 41570 0 3.18512E-5
8-41561991-C-CCGGGTGGTGGCGTCCACCATGACGCCGTGTT c.2197-2_2197-1insAACACGGCGTCATGGTGGACGCCACCACCCG splice_acceptor ANK1 2 82906 2.41237E-5 41453 1 NA
8-41563662-C-T p.Arg732Gln missense+splice_region ANK1 14 82658 1.69373E-4 41329 0 5.10725E-4
8-41563663-G-A p.Arg732Trp missense+splice_region ANK1 2 82704 2.41826E-5 41352 0 2.47484E-5
8-41563670-G-A p.Ala729Ala synonymous ANK1 1 82696 1.20925E-5 41348 0 NA
8-41563673-G-A p.Asp728Asp synonymous ANK1 2 82718 2.41785E-5 41359 0 2.03105E-4
8-41563685-G-A p.Gly724Gly synonymous ANK1 19945 82524 0.241687 41262 2672 0.258825
8-41563688-G-A p.His723His synonymous ANK1 2 82880 2.41313E-5 41440 0 2.78634E-5
8-41563711-C-A p.Val716Leu missense ANK1 1 82960 1.2054E-5 41480 0 8.25682E-6
8-41563714-G-A p.Pro715Ser missense ANK1 1 82970 1.20525E-5 41485 0 8.259E-6
8-41563717-C-T p.Val714Ile missense ANK1 3 82940 3.61707E-5 41470 0 3.1837E-5
8-41563718-G-A p.His713His synonymous ANK1 1 82948 1.20557E-5 41474 0 4.13189E-5
8-41563722-C-T p.Gly712Asp missense ANK1 1 82934 1.20578E-5 41467 0 3.9788E-6
8-41563734-A-G p.Val708Ala missense ANK1 1 82902 1.20624E-5 41451 0 NA
8-41563745-G-C p.Pro704Pro synonymous ANK1 1 82856 1.20691E-5 41428 0 NA
8-41563747-G-A p.Pro704Ser missense ANK1 1 82826 1.20735E-5 41413 0 1.69022E-5
8-41563757-G-A p.Ser700Ser splice_region+synonymous ANK1 2 82742 2.41715E-5 41371 0 1.59625E-5
8-41563762-G-A c.2098-3C>T splice_region ANK1 2 82674 2.41914E-5 41337 0 3.64551E-5
8-41563763-C-A c.2098-4G>T splice_region ANK1 1 82668 1.20966E-5 41334 0 NA
8-41566288-A-AT c.2097+7_2097+8insA splice_region ANK1 5 82238 6.07991E-5 41119 0 3.59822E-5
8-41566290-G-A c.2097+6C>T splice_region ANK1 1 82240 1.21595E-5 41120 0 NA
8-41566291-C-T c.2097+5G>A splice_region ANK1 1 82258 1.21569E-5 41129 0 3.99805E-6
8-41566306-A-G p.Leu696Pro missense ANK1 1 82570 1.21109E-5 41285 0 NA
8-41566307-G-C p.Leu696Val missense ANK1 1 82582 1.21092E-5 41291 0 4.12426E-5
8-41566314-A-G p.Asn693Asn synonymous ANK1 1 82712 1.20901E-5 41356 0 NA
8-41566315-T-C p.Asn693Ser missense ANK1 1 82710 1.20904E-5 41355 0 8.25042E-6
8-41566320-T-A p.Gln691His missense ANK1 1 82770 1.20817E-5 41385 0 NA
8-41566326-C-T p.Ser689Ser synonymous ANK1 1 82546 1.21145E-5 41273 0 9.56816E-5
8-41566327-G-A p.Ser689Leu missense ANK1 6 82536 7.26955E-5 41268 0 3.1839E-5
8-41566327-G-C p.Ser689Trp missense ANK1 1 82536 1.21159E-5 41268 0 NA
8-41566332-C-G p.Leu687Leu synonymous ANK1 1 82582 1.21092E-5 41291 0 8.25178E-6
8-41566341-C-T p.Val684Val synonymous ANK1 1 82810 1.20758E-5 41405 0 3.98042E-6
8-41566350-T-C p.Ala681Ala synonymous ANK1 2 82872 2.41336E-5 41436 0 6.36862E-5
8-41566353-G-A p.His680His synonymous ANK1 1 82872 1.20668E-5 41436 0 1.19387E-5
8-41566367-C-T p.Ala676Thr missense ANK1 1 82924 1.20592E-5 41462 0 1.64989E-5
8-41566368-G-A p.Ala675Ala synonymous ANK1 24 82936 2.8938E-4 41468 0 0.00151057
8-41566371-C-T p.Leu674Leu synonymous ANK1 1 82930 1.20584E-5 41465 0 NA
8-41566384-G-A p.Thr670Met missense ANK1 2 82974 2.41039E-5 41487 0 8.24742E-5
8-41566390-C-A p.Gly668Val missense ANK1 1 83040 1.20424E-5 41520 0 NA
8-41566398-C-T p.Ser665Ser synonymous ANK1 43 83032 5.17873E-4 41516 0 0.00105129
8-41566406-C-T p.Ala663Thr missense ANK1 4 83074 4.81498E-5 41537 0 4.12344E-5
8-41566434-A-G p.Ser653Ser synonymous ANK1 1 83166 1.20241E-5 41583 0 8.24756E-6
8-41566435-C-T p.Ser653Asn missense ANK1 27 83160 3.24675E-4 41580 0 6.25E-4
8-41566438-C-T p.Arg652His missense ANK1 3366 83088 0.0405113 41544 71 0.0479483
8-41566439-G-A p.Arg652Cys missense ANK1 1 83138 1.20282E-5 41569 0 2.78408E-5
8-41566447-T-A p.Glu649Val missense ANK1 4 83130 4.81174E-5 41565 0 4.95E-5
8-41566455-G-A p.Asn646Asn synonymous ANK1 3 83106 3.60985E-5 41553 0 3.18532E-5
8-41566469-C-T p.Ala642Thr missense ANK1 1 83064 1.20389E-5 41532 0 1.65066E-5
8-41566470-G-A p.Ile641Ile synonymous ANK1 8 83070 9.63043E-5 41535 0 3.30126E-5
8-41566485-G-A p.Tyr636Tyr synonymous ANK1 3 82992 3.61481E-5 41496 0 9.55414E-5
8-41566491-A-G p.Asn634Asn splice_region+synonymous ANK1 1 82982 1.20508E-5 41491 0 NA
8-41566493-T-TCCAGGCAGGG c.1900-1_1900insCCCTGCCTGG splice_acceptor ANK1 2 82958 2.41086E-5 41479 1 NA
8-41571678-G-A p.Ala632Val missense ANK1 1 76748 1.30297E-5 38374 0 NA
8-41571682-G-A p.Pro631Ser missense ANK1 1 77222 1.29497E-5 38611 0 1.3289E-5
8-41571689-C-T p.Pro628Pro synonymous ANK1 3 77676 3.8622E-5 38838 0 2.52105E-5
8-41571692-G-T p.Ser627Ser synonymous ANK1 2001 78162 0.0256007 39081 31 0.0292848
8-41571693-G-C p.Ser627Cys missense ANK1 1 78332 1.27662E-5 39166 0 1.1877E-5
8-41571702-C-T p.Arg624Gln missense ANK1 1 78712 1.27045E-5 39356 0 4.48934E-5
8-41571722-G-A p.Ile617Ile synonymous ANK1 2 79730 2.50847E-5 39865 0 5.14986E-5
8-41571724-T-C p.Ile617Val missense ANK1 1 80124 1.24807E-5 40062 0 1.02289E-5
8-41571725-G-A p.Asp616Asp synonymous ANK1 1 80350 1.24456E-5 40175 0 NA
8-41571730-G-C p.Leu615Val missense ANK1 2 80392 2.48781E-5 40196 0 2.01861E-5
8-41571741-T-C p.His611Arg missense ANK1 4 80506 4.96857E-5 40253 0 1.0092E-5
8-41571743-G-C p.Val610Val synonymous ANK1 3 80552 3.7243E-5 40276 0 6.25E-4
8-41571745-C-T p.Val610Ile missense ANK1 7 80466 8.69933E-5 40233 0 2.23214E-4
8-41571746-G-A p.Ala609Ala synonymous ANK1 1 80540 1.24162E-5 40270 0 0.00201816
8-41571749-C-T p.Val608Val synonymous ANK1 7 80592 8.68573E-5 40296 0 0.00125
8-41571751-C-T p.Val608Met missense ANK1 1 80574 1.2411E-5 40287 0 3.18756E-5
8-41571772-T-TTTTTCCGGCAGCATTCGGGTGTGCGTCCCG c.1801-1_1801insCGGGACGCACACCCGAATGCTGCCGGAAAA splice_acceptor ANK1 2 80724 2.47758E-5 40362 1 NA
8-41571776-C-T c.1801-4G>A splice_region ANK1 24 80696 2.97413E-4 40348 0 5.74016E-4
8-41572494-T-G p.Lys600Asn missense+splice_region ANK1 1 78552 1.27304E-5 39276 0 NA
8-41572500-G-A p.Ala598Ala synonymous ANK1 3 78552 3.81913E-5 39276 0 3.98086E-6
8-41572508-T-C p.Asn596Asp missense ANK1 1 78774 1.26945E-5 39387 0 NA
8-41572509-C-G p.Pro595Pro synonymous ANK1 1 78790 1.2692E-5 39395 0 NA
8-41572510-G-A p.Pro595Leu missense ANK1 3 78680 3.81291E-5 39340 0 5.77853E-5
8-41572517-C-T p.Ala593Thr missense ANK1 2 78654 2.54278E-5 39327 0 3.18512E-5
8-41572518-G-A p.Asp592Asp synonymous ANK1 1 78754 1.26978E-5 39377 0 7.42844E-5
8-41572522-C-T p.Arg591Gln missense ANK1 1 78912 1.26723E-5 39456 0 2.47619E-5
8-41572523-G-A p.Arg591Trp missense ANK1 2 78916 2.53434E-5 39458 0 5.03525E-4
8-41572534-A-C p.Leu587Arg missense ANK1 1 79024 1.26544E-5 39512 0 NA
8-41572536-C-T p.Glu586Glu synonymous ANK1 1 79024 1.26544E-5 39512 0 3.18492E-5
8-41572546-C-T p.Arg583Gln missense ANK1 4 78914 5.06881E-5 39457 0 6.3743E-5
8-41572547-G-T p.Arg583Arg synonymous ANK1 1 78858 1.2681E-5 39429 0 NA
8-41572547-G-A p.Arg583Trp missense ANK1 1 78858 1.2681E-5 39429 0 3.18613E-5
8-41572557-G-A p.Tyr579Tyr synonymous ANK1 4 78614 5.08815E-5 39307 0 5.03525E-4
8-41572564-G-A p.Ala577Val missense ANK1 1 78242 1.27809E-5 39121 0 3.18593E-5
8-41572566-C-T p.Ala576Ala synonymous ANK1 1 78120 1.28008E-5 39060 0 4.13414E-5
8-41572567-G-A p.Ala576Val missense ANK1 7 77834 8.9935E-5 38917 0 6.37064E-5
8-41572571-C-T p.Val575Met missense ANK1 5 77732 6.43236E-5 38866 0 1.65445E-5
8-41572572-G-A p.His574His synonymous ANK1 1 77544 1.28959E-5 38772 0 1.65503E-5
8-41572590-T-C p.Lys568Lys splice_region+synonymous ANK1 1 75064 1.3322E-5 37532 0 1.40971E-4
8-41572598-G-A c.1702-6C>T splice_region ANK1 6 73634 8.14841E-5 36817 0 0.00250313
8-41573176-C-T p.Met565Ile missense ANK1 1 82162 1.21711E-5 41081 0 8.2802E-6
8-41573178-T-C p.Met565Val missense ANK1 7 82204 8.5154E-5 41102 0 8.27801E-6
8-41573178-T-G p.Met565Leu missense ANK1 3 82204 3.64946E-5 41102 0 3.58263E-5
8-41573182-G-A p.Ala563Ala synonymous ANK1 579 82308 0.00703455 41154 5 0.00655842
8-41573194-T-C p.Glu559Glu synonymous ANK1 2 82594 2.42148E-5 41297 0 3.30486E-5
8-41573209-G-A p.Ala554Ala synonymous ANK1 2 82824 2.41476E-5 41412 0 3.18471E-5
8-41573211-C-G p.Ala554Pro missense ANK1 1 82858 1.20688E-5 41429 0 3.18471E-5
8-41573232-C-A p.Gly547Cys missense ANK1 15 83088 1.80531E-4 41544 0 1.27356E-4
8-41573237-C-T p.Arg545His missense ANK1 7 83114 8.42217E-5 41557 0 1.89659E-4
8-41573238-G-A p.Arg545Cys missense ANK1 1 83120 1.20308E-5 41560 0 4.77247E-5
8-41573243-G-A p.Ala543Val missense ANK1 5 83134 6.01439E-5 41567 0 0.00125
8-41573251-C-T p.Leu540Leu synonymous ANK1 4 83156 4.81024E-5 41578 0 5.96545E-5
8-41573256-G-T p.Pro539Thr missense ANK1 1 83176 1.20227E-5 41588 0 NA
8-41573257-G-A p.Thr538Thr synonymous ANK1 1 83172 1.20233E-5 41586 0 NA
8-41573264-C-G p.Gly536Ala missense ANK1 5 83166 6.01207E-5 41583 0 6.37308E-5
8-41573265-C-T p.Gly536Arg missense ANK1 3 83164 3.60733E-5 41582 0 1.64856E-5
8-41573266-G-A p.Ala535Ala synonymous ANK1 312 83170 0.00375135 41585 1 0.00395609
8-41573266-G-C p.Ala535Ala synonymous ANK1 1 83176 1.20227E-5 41588 0 NA
8-41573268-C-A p.Ala535Ser missense ANK1 1 83172 1.20233E-5 41586 0 1.64842E-5
8-41573269-G-A p.Thr534Thr synonymous ANK1 26 83182 3.12568E-4 41591 0 3.50274E-4
8-41573270-G-T p.Thr534Asn missense ANK1 1 83186 1.20213E-5 41593 0 NA
8-41573285-G-C p.Pro529Arg missense ANK1 1 83210 1.20178E-5 41605 0 NA
8-41573286-G-A p.Pro529Ser missense ANK1 6 83206 7.21102E-5 41603 0 3.18492E-5
8-41573288-T-C p.Asn528Ser missense ANK1 73 83224 8.77151E-4 41612 1 0.00168919
8-41573289-T-G p.Asn528His missense ANK1 21 83220 2.52343E-4 41610 0 0.00100908
8-41573292-C-T p.Ala527Thr missense ANK1 8 83212 9.614E-5 41606 0 1.48329E-4
8-41573305-C-T p.Leu522Leu synonymous ANK1 20 83246 2.40252E-4 41623 0 0.00100908
8-41573316-C-T p.Val519Met missense ANK1 1 83248 1.20123E-5 41624 0 8.24131E-6
8-41573331-C-T p.Gly514Ser missense ANK1 2 83256 2.40223E-5 41628 0 6.59489E-5
8-41573332-G-A p.Ile513Ile synonymous ANK1 1 83266 1.20097E-5 41633 0 1.64878E-5
8-41573334-T-C p.Ile513Val missense ANK1 3 83262 3.60308E-5 41631 0 0.00201613
8-41573337-G-A p.Arg512Cys missense ANK1 3 83246 3.60378E-5 41623 0 6.3678E-5
8-41573339-G-T p.Ala511Asp missense ANK1 1 83250 1.2012E-5 41625 0 NA
8-41573357-G-A p.Thr505Ile missense ANK1 1 83170 1.20236E-5 41585 0 5.96564E-5
8-41573369-T-C c.1504-2A>G splice_acceptor ANK1 1 83072 1.20378E-5 41536 0 3.18329E-5
8-41574476-C-G p.Ala500Pro missense ANK1 2 83322 2.40033E-5 41661 0 3.29457E-5
8-41574480-G-A p.Ala498Ala synonymous ANK1 2 83340 2.39981E-5 41670 0 8.23642E-6
8-41574484-T-C p.Asn497Ser missense ANK1 2 83362 2.39917E-5 41681 0 8.23642E-6
8-41574488-C-T p.Val496Ile missense ANK1 62 83376 7.43619E-4 41688 0 0.00257863
8-41574492-G-A p.Ala494Ala synonymous ANK1 17 83386 2.03871E-4 41693 0 0.00252016
8-41574515-T-C p.Lys487Glu missense ANK1 3 83390 3.59755E-5 41695 0 5.03525E-4
8-41574525-C-T p.Thr483Thr synonymous ANK1 1 83392 1.19916E-5 41696 0 8.23642E-6
8-41574526-G-A p.Thr483Met missense ANK1 2 83392 2.39831E-5 41696 0 9.5511E-5
8-41574531-C-T p.Gly481Gly synonymous ANK1 1 83388 1.19921E-5 41694 0 3.97627E-6
8-41574533-C-T p.Gly481Arg missense ANK1 1 83386 1.19924E-5 41693 0 1.98812E-5
8-41574534-G-A p.Ala480Ala synonymous ANK1 5 83382 5.9965E-5 41691 0 6.75971E-5
8-41574535-G-C p.Ala480Gly missense ANK1 1 83382 1.1993E-5 41691 0 1.59048E-5
8-41574538-C-G p.Arg479Thr missense ANK1 53 83378 6.35659E-4 41689 0 5.52697E-4
8-41574552-T-C p.Leu474Leu synonymous ANK1 1 83358 1.19964E-5 41679 0 NA
8-41574555-C-T p.Pro473Pro synonymous ANK1 2082 83298 0.0249946 41649 54 0.0342378
8-41574564-C-T p.Val470Val synonymous ANK1 1 83294 1.20057E-5 41647 0 NA
8-41574575-A-T c.1405-6T>A splice_region ANK1 1 83206 1.20184E-5 41603 0 NA
8-41575124-C-T p.Val468Met missense+splice_region ANK1 2 81146 2.46469E-5 40573 0 3.18593E-5
8-41575125-G-A p.Asn467Asn synonymous ANK1 2 81158 2.46433E-5 40579 0 0.00145349
8-41575128-G-A p.Ser466Ser synonymous ANK1 2 81186 2.46348E-5 40593 0 3.18552E-5
8-41575134-G-A p.Asn464Asn synonymous ANK1 10 81228 1.2311E-4 40614 0 6.25E-4
8-41575140-C-T p.Ser462Ser synonymous ANK1 2 81262 2.46117E-5 40631 0 6.25E-4
8-41575141-G-A p.Ser462Leu missense ANK1