Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-74364345-T-C p.Ter1874Ter stop_retained ANKRD31 1 80576 1.24106E-5 40288 0 NA
5-74364365-T-C p.Glu1867Glu synonymous ANKRD31 1 80850 1.23686E-5 40425 0 7.73958E-6
5-74364382-A-C p.Trp1862Gly missense ANKRD31 1 80980 1.23487E-5 40490 0 NA
5-74364383-A-G p.His1861His synonymous ANKRD31 3 81002 3.70361E-5 40501 0 5.78035E-5
5-74364394-T-C p.Met1858Val missense ANKRD31 1 81036 1.23402E-5 40518 0 NA
5-74364397-T-C p.Ile1857Val missense ANKRD31 1 81024 1.2342E-5 40512 0 7.33052E-6
5-74364402-C-A p.Cys1855Phe missense ANKRD31 1 81010 1.23442E-5 40505 0 NA
5-74364404-T-C p.Pro1854Pro synonymous ANKRD31 57 81016 7.03565E-4 40508 1 6.32475E-4
5-74364407-G-C p.Leu1853Leu synonymous ANKRD31 1 81010 1.23442E-5 40505 0 6.25E-4
5-74364409-G-C p.Leu1853Val missense ANKRD31 2 81022 2.46847E-5 40511 0 NA
5-74364410-A-G p.Phe1852Phe synonymous ANKRD31 1 81026 1.23417E-5 40513 0 2.21585E-5
5-74364423-C-T p.Ser1848Asn missense ANKRD31 2 80988 2.4695E-5 40494 0 6.36902E-5
5-74364427-T-C p.Ile1847Val missense ANKRD31 6 81022 7.4054E-5 40511 0 5.7617E-5
5-74364431-T-C p.Leu1845Leu synonymous ANKRD31 2 81062 2.46725E-5 40531 0 NA
5-74364432-A-G p.Leu1845Pro missense ANKRD31 1 81050 1.23381E-5 40525 0 3.18471E-5
5-74364442-T-G p.Asn1842His missense ANKRD31 2 81052 2.46755E-5 40526 0 6.36821E-5
5-74364456-C-T p.Arg1837His missense ANKRD31 3 81090 3.69959E-5 40545 0 5.85754E-5
5-74364457-G-A p.Arg1837Cys missense ANKRD31 2 81090 2.4664E-5 40545 0 1.52486E-5
5-74364458-T-G p.Pro1836Pro synonymous ANKRD31 2 81108 2.46585E-5 40554 0 3.09286E-5
5-74364459-G-A p.Pro1836Leu missense ANKRD31 1 81092 1.23317E-5 40546 0 7.78913E-6
5-74364472-T-C p.Met1832Val missense ANKRD31 1 81106 1.23295E-5 40553 0 0.00155763
5-74364490-C-T c.5477-1G>A splice_acceptor ANKRD31 1 80870 1.23655E-5 40435 0 NA
5-74376393-CT-C p.Gly1826fs frameshift ANKRD31 1 79938 1.25097E-5 39969 0 NA
5-74376396-G-C p.Gln1825Glu missense ANKRD31 1 80066 1.24897E-5 40033 0 1.46625E-4
5-74376397-T-C p.Gly1824Gly synonymous ANKRD31 6 80134 7.48746E-5 40067 0 1.46175E-4
5-74376415-A-G p.Phe1818Phe synonymous ANKRD31 2 80410 2.48725E-5 40205 0 NA
5-74376427-G-C p.Asn1814Lys missense ANKRD31 4 80518 4.96783E-5 40259 0 2.57649E-4
5-74376433-T-C p.Glu1812Glu synonymous ANKRD31 1 80540 1.24162E-5 40270 0 6.37308E-5
5-74376461-A-T p.Val1803Asp missense ANKRD31 2 80370 2.48849E-5 40185 0 NA
5-74376467-G-C c.5405-3C>G splice_region ANKRD31 4 80278 4.98269E-5 40139 0 NA
5-74380094-T-C c.5404+3A>G splice_region ANKRD31 125 81038 0.00154249 40519 3 0.004375
5-74380104-A-G p.Cys1799Cys synonymous ANKRD31 2 81116 2.4656E-5 40558 0 NA
5-74380108-G-T p.Pro1798His missense ANKRD31 1 81130 1.23259E-5 40565 0 7.04851E-6
5-74380121-G-A p.Gln1794* stop_gained ANKRD31 1 81204 1.23147E-5 40602 0 NA
5-74380128-T-A p.Ser1791Ser synonymous ANKRD31 1 81222 1.23119E-5 40611 0 2.81897E-5
5-74380133-T-C p.Asn1790Asp missense ANKRD31 1 81230 1.23107E-5 40615 0 NA
5-74380147-A-G p.Ile1785Thr missense ANKRD31 1 81266 1.23053E-5 40633 0 NA
5-74380148-T-C p.Ile1785Val missense ANKRD31 1 81274 1.23041E-5 40637 0 NA
5-74380158-C-T p.Glu1781Glu synonymous ANKRD31 1 81250 1.23077E-5 40625 0 5.70581E-5
5-74380170-C-T p.Arg1777Arg synonymous ANKRD31 9 81220 1.1081E-4 40610 0 1.2738E-4
5-74380171-C-T p.Arg1777Lys missense ANKRD31 3 81208 3.69422E-5 40604 0 2.28284E-4
5-74380173-T-C p.Leu1776Leu synonymous ANKRD31 2 81204 2.46293E-5 40602 0 NA
5-74380179-C-T p.Glu1774Glu synonymous ANKRD31 1 81166 1.23204E-5 40583 0 NA
5-74380190-G-A p.Leu1771Phe missense ANKRD31 3 81104 3.69895E-5 40552 0 3.18451E-5
5-74380190-G-T p.Leu1771Ile missense ANKRD31 1 81104 1.23298E-5 40552 0 NA
5-74380194-C-T p.Thr1769Thr synonymous ANKRD31 3 81034 3.70215E-5 40517 0 5.70841E-5
5-74380195-G-A p.Thr1769Met missense ANKRD31 2 81024 2.4684E-5 40512 0 6.37024E-5
5-74380201-T-C c.5302-2A>G splice_acceptor ANKRD31 3 80946 3.70617E-5 40473 0 NA
5-74380203-C-A c.5302-4G>T splice_region ANKRD31 1 80914 1.23588E-5 40457 0 1.41032E-5
5-74387081-C-T c.5301+5G>A splice_region ANKRD31 347 81242 0.00427119 40621 2 0.008379
5-74387091-T-C p.Ser1766Gly missense ANKRD31 5 81286 6.15112E-5 40643 0 5.79643E-5
5-74387092-C-A p.Trp1765Cys missense ANKRD31 1 81280 1.23031E-5 40640 0 7.13196E-6
5-74387100-A-G p.Tyr1763His missense ANKRD31 2 81286 2.46045E-5 40643 0 4.25943E-5
5-74387111-A-G p.Val1759Ala missense ANKRD31 1 81298 1.23004E-5 40649 0 NA
5-74387122-G-T p.Gly1755Gly synonymous ANKRD31 1 81302 1.22998E-5 40651 0 7.05477E-6
5-74387127-C-G p.Gly1754Arg missense ANKRD31 1 81302 1.22998E-5 40651 0 NA
5-74387135-T-C p.Asp1751Gly missense ANKRD31 1 81308 1.22989E-5 40654 0 5.71755E-5
5-74387154-G-A p.Pro1745Ser missense ANKRD31 1 81298 1.23004E-5 40649 0 5.71821E-5
5-74387171-C-A p.Gly1739Val missense ANKRD31 2 81270 2.46093E-5 40635 0 NA
5-74387183-T-G p.Lys1735Thr missense ANKRD31 1 81268 1.2305E-5 40634 0 NA
5-74387207-C-T p.Ser1727Asn missense ANKRD31 1 81206 1.23144E-5 40603 0 5.77701E-5
5-74387209-G-A p.Ala1726Ala synonymous ANKRD31 1 81194 1.23162E-5 40597 0 7.12799E-6
5-74387210-G-C p.Ala1726Gly missense ANKRD31 1 81198 1.23156E-5 40599 0 7.1286E-6
5-74387211-C-T p.Ala1726Thr missense ANKRD31 1 81192 1.23165E-5 40596 0 NA
5-74387217-G-GAT p.His1724fs frameshift ANKRD31 1 81172 1.23195E-5 40586 0 NA
5-74387218-G-GAAA p.Thr1723_His1724insPhe disruptive_inframe_insertion ANKRD31 1 81162 1.2321E-5 40581 0 NA
5-74387222-G-T p.Thr1722Asn missense ANKRD31 1 81152 1.23226E-5 40576 0 NA
5-74387226-C-T p.Glu1721Lys missense+splice_region ANKRD31 2 81118 2.46554E-5 40559 0 7.93034E-6
5-74400045-T-C c.5160+8A>G splice_region ANKRD31 5 79876 6.2597E-5 39938 0 4.9231E-5
5-74400046-A-G c.5160+7T>C splice_region ANKRD31 1 79906 1.25147E-5 39953 0 NA
5-74400047-G-A c.5160+6C>T splice_region ANKRD31 1 79966 1.25053E-5 39983 0 NA
5-74400049-A-C c.5160+4T>G splice_region ANKRD31 1 80030 1.24953E-5 40015 0 NA
5-74400054-T-C p.Gln1720Arg missense+splice_region ANKRD31 1 80196 1.24694E-5 40098 0 NA
5-74400080-T-A p.Gly1711Gly synonymous ANKRD31 1 80866 1.23661E-5 40433 0 NA
5-74400098-T-C p.Leu1705Leu synonymous ANKRD31 2 81092 2.46633E-5 40546 0 7.24302E-6
5-74400100-G-C p.Leu1705Val missense ANKRD31 1 81102 1.23302E-5 40551 0 3.18431E-5
5-74400107-C-G p.Leu1702Phe missense ANKRD31 1 81114 1.23283E-5 40557 0 5.93824E-5
5-74400110-A-G p.Asp1701Asp synonymous ANKRD31 1 81134 1.23253E-5 40567 0 NA
5-74400112-C-A p.Asp1701Tyr missense ANKRD31 1 81148 1.23232E-5 40574 0 7.13501E-6
5-74400116-TA-T p.Ile1699fs frameshift ANKRD31 1 81146 1.23235E-5 40573 0 7.12099E-6
5-74400118-T-A p.Ile1699Leu missense ANKRD31 1 81154 1.23223E-5 40577 0 7.10742E-6
5-74400124-T-C p.Ile1697Val missense ANKRD31 1 81144 1.23238E-5 40572 0 NA
5-74400127-A-G p.Cys1696Arg missense ANKRD31 1 81144 1.23238E-5 40572 0 NA
5-74400136-T-C p.Lys1693Glu missense ANKRD31 3 81130 3.69777E-5 40565 0 1.27372E-4
5-74400144-G-C p.Thr1690Arg missense ANKRD31 1 81098 1.23308E-5 40549 0 NA
5-74400149-G-A p.Tyr1688Tyr synonymous ANKRD31 1 81102 1.23302E-5 40551 0 3.18471E-5
5-74400150-TAGTTTAAAG-T p.Ala1685_Tyr1688delinsAsp disruptive_inframe_deletion ANKRD31 1 81092 1.23317E-5 40546 0 7.05995E-6
5-74400151-A-C p.Tyr1688Asp missense ANKRD31 138 81086 0.0017019 40543 3 0.00614415
5-74400153-T-C p.Asn1687Ser missense ANKRD31 5 81076 6.16705E-5 40538 0 1.14718E-4
5-74400155-T-C p.Leu1686Leu synonymous ANKRD31 1 81066 1.23356E-5 40533 0 NA
5-74400160-C-G p.Ala1685Pro missense ANKRD31 6 81076 7.40046E-5 40538 0 5.7241E-5
5-74400170-T-C p.Thr1681Thr synonymous ANKRD31 1 81078 1.23338E-5 40539 0 1.14377E-4
5-74400189-C-T p.Gly1675Glu missense ANKRD31 1 81044 1.2339E-5 40522 0 NA
5-74400192-G-C p.Ser1674Cys missense ANKRD31 1 81056 1.23371E-5 40528 0 NA
5-74400194-G-C p.Ser1673Ser synonymous ANKRD31 1 81060 1.23365E-5 40530 0 1.34149E-4
5-74400197-A-G p.Ser1672Ser synonymous ANKRD31 60 81062 7.40174E-4 40531 0 0.0015411
5-74400215-A-G p.Asp1666Asp synonymous ANKRD31 1 81074 1.23344E-5 40537 0 7.05736E-6
5-74400216-T-C p.Asp1666Gly missense ANKRD31 1 81064 1.23359E-5 40532 0 7.05866E-6
5-74400224-T-C p.Pro1663Pro synonymous ANKRD31 1 81086 1.23326E-5 40543 0 NA
5-74400233-A-G p.Ser1660Ser synonymous ANKRD31 1 81106 1.23295E-5 40553 0 NA
5-74400242-T-G p.Lys1657Asn missense ANKRD31 5 81124 6.1634E-5 40562 0 6.35019E-5
5-74400250-G-A p.Leu1655Phe missense ANKRD31 2 81128 2.46524E-5 40564 0 5.70711E-5
5-74400251-A-G p.Tyr1654Tyr synonymous ANKRD31 1 81140 1.23244E-5 40570 0 7.05617E-6
5-74400265-G-A p.Gln1650* stop_gained ANKRD31 3 81158 3.69649E-5 40579 0 5.70711E-5
5-74400269-C-T p.Val1648Val synonymous ANKRD31 1 81170 1.23198E-5 40585 0 NA
5-74400273-G-A p.Thr1647Ile missense ANKRD31 1 81174 1.23192E-5 40587 0 NA
5-74400278-A-G p.Ser1645Ser synonymous ANKRD31 1 81162 1.2321E-5 40581 0 NA
5-74400279-C-T p.Ser1645Asn missense ANKRD31 4 81162 4.92841E-5 40581 0 5.64318E-5
5-74400296-C-T p.Gly1639Gly synonymous ANKRD31 3 81184 3.69531E-5 40592 0 NA
5-74400302-A-G p.His1637His synonymous ANKRD31 2 81204 2.46293E-5 40602 0 NA
5-74400324-C-T p.Gly1630Glu missense ANKRD31 2222 81216 0.0273591 40608 49 0.034375
5-74400333-G-A p.Ser1627Leu missense ANKRD31 2 81252 2.46148E-5 40626 0 NA
5-74400336-T-C p.Gln1626Arg missense ANKRD31 16 81262 1.96894E-4 40631 0 3.60058E-4
5-74400340-G-T p.Gln1625Lys missense ANKRD31 1 81292 1.23013E-5 40646 0 0.00287356
5-74400344-AC-A p.Ser1623fs frameshift ANKRD31 1 81290 1.23016E-5 40645 0 NA
5-74400346-T-C p.Ser1623Gly missense ANKRD31 3 81292 3.6904E-5 40646 0 5.71494E-5
5-74400349-T-C p.Thr1622Ala missense ANKRD31 1 81314 1.2298E-5 40657 0 0.00146628
5-74400378-T-C p.Asn1612Ser missense ANKRD31 93 81348 0.00114324 40674 1 0.00171953
5-74400386-G-C p.Asp1609Glu missense ANKRD31 13883 81220 0.170931 40610 1307 0.305
5-74400387-T-C p.Asp1609Gly missense ANKRD31 4 81346 4.91727E-5 40673 0 3.04252E-4
5-74400391-G-T p.Gln1608Lys missense ANKRD31 1 81358 1.22914E-5 40679 0 NA
5-74400400-T-C p.Ile1605Val missense ANKRD31 139 81356 0.00170854 40678 3 0.00618188
5-74400403-T-C p.Ile1604Val missense ANKRD31 3 81358 3.68741E-5 40679 0 7.10066E-6
5-74400406-T-C p.Asn1603Asp missense ANKRD31 1 81360 1.22911E-5 40680 0 NA
5-74400410-T-C p.Pro1601Pro synonymous ANKRD31 1 81356 1.22917E-5 40678 0 7.09361E-6
5-74400427-C-T p.Glu1596Lys missense ANKRD31 3 81344 3.68804E-5 40672 0 0.00144509
5-74400438-C-A p.Ser1592Ile missense ANKRD31 1 81328 1.22959E-5 40664 0 NA
5-74400439-T-C p.Ser1592Gly missense ANKRD31 1 81328 1.22959E-5 40664 0 5.73921E-5
5-74400466-C-T p.Gly1583Ser missense ANKRD31 139 81290 0.00170993 40645 2 0.005
5-74400467-G-A p.Ile1582Ile synonymous ANKRD31 2 81296 2.46015E-5 40648 0 3.18471E-5
5-74400475-G-A p.Pro1580Ser missense ANKRD31 2 81262 2.46117E-5 40631 0 NA
5-74400478-A-C p.Ser1579Ala missense ANKRD31 1 81250 1.23077E-5 40625 0 NA
5-74400478-A-T p.Ser1579Thr missense ANKRD31 1 81250 1.23077E-5 40625 0 NA
5-74400486-T-C p.Tyr1576Cys missense ANKRD31 6 81238 7.38571E-5 40619 1 7.12383E-6
5-74400505-C-T p.Asp1570Asn missense ANKRD31 1436 81180 0.0176891 40590 63 0.0364447
5-74400508-T-C p.Thr1569Ala missense ANKRD31 2 81164 2.46415E-5 40582 0 9.55292E-5
5-74400516-G-C p.Thr1566Arg missense ANKRD31 11213 81010 0.138415 40505 822 0.157252
5-74400527-C-T p.Glu1562Glu synonymous ANKRD31 1 81132 1.23256E-5 40566 0 NA
5-74400561-G-A p.Ala1551Val missense ANKRD31 1 81150 1.23229E-5 40575 0 NA
5-74400574-A-C p.Ser1547Ala missense ANKRD31 4 81150 4.92914E-5 40575 0 0.00125
5-74400575-T-A p.Pro1546Pro synonymous ANKRD31 4 81154 4.9289E-5 40577 0 NA
5-74400575-T-C p.Pro1546Pro synonymous ANKRD31 3 81154 3.69668E-5 40577 0 1.71311E-4
5-74400601-C-A p.Asp1538Tyr missense ANKRD31 1 81208 1.23141E-5 40604 0 NA
5-74400613-A-G p.Ser1534Pro missense ANKRD31 243 81226 0.00299165 40613 1 0.00499936
5-74400636-C-T p.Cys1526Tyr missense ANKRD31 38 81230 4.67807E-4 40615 0 0.003003
5-74400645-C-T p.Gly1523Asp missense ANKRD31 2 81228 2.46221E-5 40614 0 3.18959E-5
5-74400646-C-A p.Gly1523Cys missense ANKRD31 1 81220 1.23122E-5 40610 0 5.70776E-5
5-74400663-A-G p.Met1517Thr missense ANKRD31 4 81210 4.9255E-5 40605 0 5.70907E-5
5-74400664-T-C p.Met1517Val missense ANKRD31 1 81218 1.23125E-5 40609 0 7.05806E-6
5-74400665-A-G p.Asp1516Asp synonymous ANKRD31 1 81220 1.23122E-5 40610 0 NA
5-74400666-T-A p.Asp1516Val missense ANKRD31 1 81220 1.23122E-5 40610 0 6.38081E-5
5-74400668-A-G p.Asn1515Asn synonymous ANKRD31 1 81228 1.2311E-5 40614 0 NA
5-74400684-C-A p.Gly1510Val missense ANKRD31 1 81200 1.23153E-5 40600 0 NA
5-74400696-G-C p.Ala1506Gly missense ANKRD31 4 81196 4.92635E-5 40598 0 7.05826E-6
5-74400697-C-T p.Ala1506Thr missense ANKRD31 1 81196 1.23159E-5 40598 0 NA
5-74400707-T-C p.Leu1502Leu synonymous ANKRD31 1 81170 1.23198E-5 40585 0 NA
5-74400716-G-A p.Asn1499Asn synonymous ANKRD31 2 81164 2.46415E-5 40582 0 NA
5-74400723-T-G p.Asn1497Thr missense ANKRD31 2 81144 2.46475E-5 40572 0 NA
5-74400724-T-C p.Asn1497Asp missense ANKRD31 1 81146 1.23235E-5 40573 0 NA
5-74400755-T-G p.Gln1486His missense ANKRD31 2 81148 2.46463E-5 40574 0 5.70776E-5
5-74400767-C-A p.Met1482Ile missense ANKRD31 1 81070 1.2335E-5 40535 0 NA
5-74400783-G-A p.Pro1477Leu missense ANKRD31 27 81010 3.33292E-4 40505 0 2.28545E-4
5-74400799-A-G p.Ser1472Pro missense ANKRD31 1 80932 1.23561E-5 40466 0 NA
5-74400800-T-C p.Gln1471Gln synonymous ANKRD31 1 80926 1.2357E-5 40463 0 NA
5-74400804-G-A p.Pro1470Leu missense ANKRD31 2 80900 2.47219E-5 40450 0 5.71755E-5
5-74400842-G-A p.Asp1457Asp synonymous ANKRD31 2 80812 2.47488E-5 40406 0 1.41745E-5
5-74400875-GAGCTTCCTTA-G p.Leu1443fs frameshift ANKRD31 1 80842 1.23698E-5 40421 0 NA
5-74400877-G-A p.Leu1446Phe missense ANKRD31 1 80846 1.23692E-5 40423 0 NA
5-74400878-C-T p.Lys1445Lys synonymous ANKRD31 2 80840 2.47402E-5 40420 0 NA
5-74400894-C-A p.Cys1440Phe missense ANKRD31 1 80824 1.23726E-5 40412 0 NA
5-74400903-G-A p.Ser1437Leu missense ANKRD31 2 80822 2.47457E-5 40411 0 NA
5-74400949-G-GT p.Gln1422fs frameshift ANKRD31 9 80914 1.11229E-4 40457 0 2.95543E-4
5-74400950-T-C p.Lys1421Lys synonymous ANKRD31 2 80918 2.47164E-5 40459 0 0.00147493
5-74400957-G-T p.Ala1419Glu missense ANKRD31 1 80918 1.23582E-5 40459 0 NA
5-74400961-C-G p.Val1418Leu missense ANKRD31 2 80954 2.47054E-5 40477 0 NA
5-74400977-C-T p.Gln1412Gln synonymous ANKRD31 1 80990 1.23472E-5 40495 0 3.18593E-5
5-74400983-T-G p.Ala1410Ala synonymous ANKRD31 2 81006 2.46895E-5 40503 0 NA
5-74401003-G-T p.Gln1404Lys missense ANKRD31 1 80998 1.2346E-5 40499 0 NA
5-74401011-A-C p.Leu1401Arg missense ANKRD31 1 80940 1.23548E-5 40470 0 NA
5-74401021-G-A p.His1398Tyr missense ANKRD31 1 80834 1.2371E-5 40417 0 NA
5-74401025-A-G p.Phe1396Phe synonymous ANKRD31 20 80784 2.47574E-4 40392 0 0.00125
5-74401026-A-C p.Phe1396Cys missense ANKRD31 1 80772 1.23805E-5 40386 0 8.00769E-5
5-74401030-A-G p.Ser1395Pro missense ANKRD31 8 80706 9.91252E-5 40353 0 1.27405E-4
5-74401049-G-A c.4170-6C>T splice_region ANKRD31 1 80160 1.2475E-5 40080 0 NA
5-74403345-C-A c.4169+1G>T splice_donor ANKRD31 1 79260 1.26167E-5 39630 0 1.51946E-5
5-74403348-G-A p.Tyr1389Tyr splice_region+synonymous ANKRD31 1 79470 1.25834E-5 39735 0 3.04377E-5
5-74403360-C-T p.Leu1385Leu synonymous ANKRD31 2 79712 2.50903E-5 39856 0 5.77901E-5
5-74403391-A-G p.Leu1375Pro missense ANKRD31 1 80102 1.24841E-5 40051 0 NA
5-74403396-A-G p.Asn1373Asn synonymous ANKRD31 1 80126 1.24803E-5 40063 0 NA
5-74403403-A-C p.Met1371Arg missense ANKRD31 1 80078 1.24878E-5 40039 0 2.16039E-5
5-74403406-A-G p.Ile1370Thr missense ANKRD31 1 80092 1.24856E-5 40046 0 NA
5-74403408-CT-C p.Lys1369fs frameshift ANKRD31 8 80082 9.98976E-5 40041 0 1.74014E-4
5-74403417-C-A p.Lys1366Asn missense ANKRD31 4 79896 5.00651E-5 39948 0 6.41231E-5
5-74403421-A-G p.Leu1365Ser missense ANKRD31 1 79832 1.25263E-5 39916 0 NA
5-74403446-G-A c.4073-4C>T splice_region ANKRD31 2 78816 2.53756E-5 39408 0 8.47127E-6
5-74408331-T-C c.4072+7A>G splice_region ANKRD31 33 78292 4.21499E-4 39146 0 0.00250627
5-74408333-T-C c.4072+5A>G splice_region ANKRD31 2 78404 2.55089E-5 39202 0 NA
5-74408340-G-T p.Ala1357Glu missense+splice_region ANKRD31 6 78688 7.62505E-5 39344 0 6.37389E-5
5-74408342-A-G p.Asp1356Asp synonymous ANKRD31 1 78788 1.26923E-5 39394 0 5.10822E-5
5-74408356-T-G p.Arg1352Arg synonymous ANKRD31 2 79216 2.52474E-5 39608 0 3.18451E-5
5-74408365-A-G p.Phe1349Leu missense ANKRD31 1 79220 1.26231E-5 39610 0 NA
5-74408367-T-C p.Glu1348Gly missense ANKRD31 1 79298 1.26107E-5 39649 0 1.43885E-5
5-74408380-C-T p.Glu1344Lys missense ANKRD31 1 79346 1.2603E-5 39673 0 1.44028E-5
5-74408396-A-G p.Asp1338Asp synonymous ANKRD31 1 79280 1.26135E-5 39640 0 NA
5-74408397-T-A p.Asp1338Val missense ANKRD31 1 79328 1.26059E-5 39664 0 NA
5-74408402-T-C p.Leu1336Leu synonymous ANKRD31 1 79270 1.26151E-5 39635 0 3.18552E-5
5-74408409-G-A p.Ala1334Val missense ANKRD31 1 79190 1.26279E-5 39595 0 7.33848E-6
5-74408432-G-C c.3985-7C>G splice_region ANKRD31 2 78214 2.55709E-5 39107 0 5.90947E-5
5-74412387-T-C c.3984+4A>G splice_region ANKRD31 13 75188 1.729E-4 37594 0 2.1422E-5
5-74412405-C-T p.Glu1324Lys missense ANKRD31 1 77284 1.29393E-5 38642 0 NA
5-74412411-A-G p.Ser1322Pro missense ANKRD31 60 77368 7.75514E-4 38684 0 0.00169156
5-74412416-T-C p.Glu1320Gly missense ANKRD31 1 78102 1.28038E-5 39051 0 2.24877E-5
5-74412430-G-A p.Ser1315Ser synonymous ANKRD31 1 78492 1.27402E-5 39246 0 NA
5-74412439-G-A p.Asp1312Asp synonymous ANKRD31 2 78570 2.5455E-5 39285 0 3.19836E-5
5-74412440-T-G p.Asp1312Ala missense ANKRD31 1 78588 1.27246E-5 39294 0 7.35013E-6
5-74412443-A-G p.Ile1311Thr missense ANKRD31 1 78606 1.27217E-5 39303 0 7.33364E-6
5-74412450-T-C p.Lys1309Glu missense ANKRD31 1 78612 1.27207E-5 39306 0 5.77101E-5
5-74412452-C-T p.Gly1308Asp missense ANKRD31 1 78524 1.2735E-5 39262 0 NA
5-74412467-C-T p.Cys1303Tyr missense ANKRD31 33 77580 4.25367E-4 38790 0 5.44035E-4
5-74412468-A-G p.Cys1303Arg missense ANKRD31 1 77608 1.28853E-5 38804 0 NA
5-74412475-A-G p.His1300His synonymous ANKRD31 27 77450 3.48612E-4 38725 0 0.005
5-74412479-C-T p.Arg1299Lys missense ANKRD31 3 77368 3.87757E-5 38684 0 NA
5-74412487-C-T p.Arg1296Arg synonymous ANKRD31 2 77068 2.59511E-5 38534 0 NA
5-74412488-C-T p.Arg1296Gln missense ANKRD31 472 76696 0.00615417 38348 9 0.0170444
5-74412489-G-A p.Arg1296Trp missense ANKRD31 9 76592 1.17506E-4 38296 0 7.4933E-5
5-74412493-A-G p.Ala1294Ala synonymous ANKRD31 1 76698 1.30381E-5 38349 0 NA
5-74412494-G-A p.Ala1294Val missense ANKRD31 8 76496 1.04581E-4 38248 0 1.68903E-4
5-74412505-T-C p.Glu1290Glu splice_region+synonymous ANKRD31 1 76130 1.31354E-5 38065 0 NA
5-74413968-A-G p.Ile1287Thr missense ANKRD31 1 79472 1.2583E-5 39736 0 NA
5-74413970-A-G p.Ala1286Ala synonymous ANKRD31 1 79574 1.25669E-5 39787 0 3.1841E-5
5-74413986-C-G p.Arg1281Thr missense ANKRD31 3 80480 3.72763E-5 40240 0 1.72906E-5
5-74414001-A-G p.Ile1276Thr missense ANKRD31 3 80682 3.7183E-5 40341 0 3.18552E-5
5-74414026-C-A p.Glu1268* stop_gained ANKRD31 2 80930 2.47127E-5 40465 0 NA
5-74414042-A-G p.Asp1262Asp synonymous ANKRD31 1 80974 1.23496E-5 40487 0 NA
5-74414049-T-A p.Glu1260Val missense ANKRD31 2 81018 2.46859E-5 40509 0 NA
5-74414067-TG-T p.Gln1254fs frameshift ANKRD31 1 81034 1.23405E-5 40517 0 NA
5-74414068-G-A p.Gln1254* stop_gained ANKRD31 1 81024 1.2342E-5 40512 0 1.58228E-5
5-74414072-T-C p.Gln1252Gln synonymous ANKRD31 1 81012 1.23439E-5 40506 0 1.38045E-4
5-74414095-C-T p.Ala1245Thr missense ANKRD31 1 80984 1.23481E-5 40492 0 NA
5-74414097-C-T p.Gly1244Glu missense ANKRD31 1 80988 1.23475E-5 40494 0 NA
5-74414100-T-C p.Asn1243Ser missense ANKRD31 2 80944 2.47084E-5 40472 0 7.99744E-5
5-74414103-T-G p.Gln1242Pro missense ANKRD31 1 80916 1.23585E-5 40458 0 NA
5-74414104-G-A p.Gln1242* stop_gained ANKRD31 1 80882 1.23637E-5 40441 0 NA
5-74414114-C-T p.Glu1238Glu synonymous ANKRD31 1 80706 1.23907E-5 40353 0 NA
5-74414125-A-T c.3706-3T>A splice_region ANKRD31 2 80292 2.49091E-5 40146 0 3.54635E-5
5-74414125-A-G c.3706-3T>C splice_region ANKRD31 1 80292 1.24545E-5 40146 0 NA
5-74414126-C-T c.3706-4G>A splice_region ANKRD31 1 80232 1.24639E-5 40116 0 NA
5-74433692-T-C p.Asn1232Asp missense ANKRD31 1 80554 1.2414E-5 40277 0 3.18756E-5
5-74433724-C-T p.Gly1221Glu missense ANKRD31 3 80886 3.70892E-5 40443 0 7.10419E-6
5-74433732-A-AT p.Asn1218fs frameshift ANKRD31 1 80926 1.2357E-5 40463 0 5.74317E-5
5-74433737-C-A p.Glu1217* stop_gained ANKRD31 2 80950 2.47066E-5 40475 0 NA
5-74433739-C-T p.Cys1216Tyr missense ANKRD31 3 80960 3.70553E-5 40480 0 7.09643E-6
5-74433743-T-C p.Asn1215Asp missense ANKRD31 2 80974 2.46993E-5 40487 0 NA
5-74433770-C-T p.Glu1206Lys missense ANKRD31 1 80908 1.23597E-5 40454 0 NA
5-74433781-T-C p.Asp1202Gly missense ANKRD31 1 80766 1.23814E-5 40383 0 7.33837E-6
5-74433806-C-T p.Glu1194Lys missense ANKRD31 1 80278 1.24567E-5 40139 0 3.25924E-5
5-74433825-T-TA c.3563-3_3563-2insT splice_region ANKRD31 9 77778 1.15714E-4 38889 0 7.10319E-4
5-74433825-T-A c.3563-2A>T splice_acceptor ANKRD31 2 77814 2.57023E-5 38907 0 5.54232E-5
5-74434673-G-C p.Ala1187Gly missense+splice_region ANKRD31 2 81166 2.46409E-5 40583 0 NA
5-74434681-A-G p.Asn1184Asn synonymous ANKRD31 1 81186 1.23174E-5 40593 0 NA
5-74434692-C-T p.Val1181Met missense ANKRD31 1 81212 1.23135E-5 40606 0 7.08125E-6
5-74434699-TC-T p.Gly1178fs frameshift ANKRD31 1 81232 1.23104E-5 40616 0 NA
5-74434710-T-C p.Ile1175Val missense ANKRD31 1 81252 1.23074E-5 40626 0 NA
5-74434714-G-A p.Ala1173Ala synonymous ANKRD31 2 81256 2.46136E-5 40628 0 4.23507E-5
5-74434726-G-A p.Pro1169Pro synonymous ANKRD31 3 81278 3.69104E-5 40639 0 9.56023E-5
5-74434754-T-C p.His1160Arg missense ANKRD31 2 81284 2.46051E-5 40642 0 6.36902E-5
5-74434763-C-G p.Ser1157Thr missense ANKRD31 3 81280 3.69094E-5 40640 0 6.36862E-5
5-74434802-T-C p.Lys1144Arg missense ANKRD31 1 81192 1.23165E-5 40596 0 NA
5-74434816-T-C c.3425-8A>G splice_region ANKRD31 1 81130 1.23259E-5 40565 0 3.18451E-5
5-74439882-T-C p.Lys1180Arg missense ANKRD31 1 954 0.00104822 477 0 0.00152964
5-74441810-AC-A c.3424+1delG splice_donor ANKRD31 1 80360 1.2444E-5 40180 0 NA
5-74441821-G-A p.His1139Tyr missense ANKRD31 1 80574 1.2411E-5 40287 0 0.00153374
5-74441844-T-G p.Gln1131Pro missense ANKRD31 1 80754 1.23833E-5 40377 0 8.88194E-6
5-74441850-A-C p.Leu1129Arg missense ANKRD31 3 80814 3.71223E-5 40407 0 NA
5-74441859-A-T p.Ile1126Asn missense ANKRD31 10 80852 1.23683E-4 40426 0 3.49895E-4
5-74441877-C-T p.Ser1120Asn missense ANKRD31 5 80940 6.17742E-5 40470 0 6.37227E-5
5-74441888-A-T p.Thr1116Thr synonymous ANKRD31 1 80982 1.23484E-5 40491 0 1.50868E-5
5-74441890-T-C p.Thr1116Ala missense ANKRD31 1 80970 1.23503E-5 40485 0 NA
5-74441894-A-C p.His1114Gln missense ANKRD31 1 80982 1.23484E-5 40491 0 NA
5-74441895-T-A p.His1114Leu missense ANKRD31 1 80986 1.23478E-5 40493 0 NA
5-74441905-T-C p.Ile1111Val missense ANKRD31 1 80980 1.23487E-5 40490 0 NA
5-74441911-G-T p.His1109Asn missense ANKRD31 1 80994 1.23466E-5 40497 0 NA
5-74441914-T-G p.Ile1108Leu missense ANKRD31 1 81012 1.23439E-5 40506 0 6.36862E-5
5-74441915-A-T p.Thr1107Thr synonymous ANKRD31 1 81012 1.23439E-5 40506 0 1.41894E-5
5-74441916-G-C p.Thr1107Ser missense ANKRD31 1 81018 1.23429E-5 40509 0 7.09421E-6
5-74441921-A-C p.Ser1105Arg missense ANKRD31 2 81012 2.46877E-5 40506 0 NA
5-74441931-T-C p.His1102Arg missense ANKRD31 1 81024 1.2342E-5 40512 0 2.12486E-5
5-74441949-TCAA-T p.Val1095del disruptive_inframe_deletion ANKRD31 1 81026 1.23417E-5 40513 0 NA
5-74441956-T-C p.Lys1094Glu missense ANKRD31 3 81024 3.70261E-5 40512 0 3.82166E-4
5-74441970-AC-A p.Val1089fs frameshift ANKRD31 1 81016 1.23432E-5 40508 0 7.08968E-6
5-74442049-T-C p.Thr1063Ala missense ANKRD31 3 80926 3.70709E-5 40463 0 5.73066E-5
5-74442067-T-A p.Met1057Leu missense ANKRD31 2 80834 2.47421E-5 40417 0 NA
5-74442072-T-G p.Glu1055Ala missense ANKRD31 1 80792 1.23775E-5 40396 0 NA
5-74442076-C-T p.Val1054Met missense ANKRD31 1 80760 1.23824E-5 40380 0 7.08306E-6
5-74442080-ATGTG-A p.Thr1051fs frameshift ANKRD31 1 80742 1.23851E-5 40371 0 NA
5-74442086-ATCTGTTT-A p.Gln1048fs frameshift ANKRD31 1 80670 1.23962E-5 40335 0 NA
5-74442093-T-C p.Gln1048Arg missense ANKRD31 1 80608 1.24057E-5 40304 0 7.08005E-6
5-74442100-T-C p.Met1046Val missense ANKRD31 2 80558 2.48268E-5 40279 0 6.37186E-5
5-74442101-T-G p.Leu1045Phe missense ANKRD31 1 80554 1.2414E-5 40277 0 6.37105E-5
5-74442109-T-G p.Thr1043Pro missense ANKRD31 1 80416 1.24353E-5 40208 0 5.72213E-5
5-74442137-C-CT p.Pro1034fs frameshift ANKRD31 2 80158 2.49507E-5 40079 1 NA
5-74442146-T-C p.Leu1030Leu synonymous ANKRD31 1 80146 1.24772E-5 40073 0 5.73066E-5
5-74442150-T-C p.Glu1029Gly missense ANKRD31 137 80142 0.00170947 40071 2 0.005
5-74442161-A-C p.Thr1025Thr synonymous ANKRD31 1 80172 1.24732E-5 40086 0 NA
5-74442167-C-T p.Lys1023Lys synonymous ANKRD31 2 80158 2.49507E-5 40079 0 NA
5-74442171-G-T p.Ser1022* stop_gained ANKRD31 1 80158 1.24754E-5 40079 0 6.37227E-5
5-74442176-C-T p.Glu1020Glu synonymous ANKRD31 1 80178 1.24722E-5 40089 0 NA
5-74442179-A-G p.His1019His synonymous ANKRD31 2 80174 2.49457E-5 40087 0 NA
5-74442194-T-C p.Arg1014Arg synonymous ANKRD31 8 80156 9.98054E-5 40078 0 6.25E-4
5-74442199-T-C p.Met1013Val missense ANKRD31 1 80132 1.24794E-5 40066 0 NA
5-74442201-C-T p.Cys1012Tyr missense ANKRD31 3 80106 3.74504E-5 40053 0 1.72275E-4
5-74442204-G-A p.Ala1011Val missense ANKRD31 1 80092 1.24856E-5 40046 0 NA
5-74442222-G-A p.Pro1005Leu missense ANKRD31 1 79998 1.25003E-5 39999 0 7.09864E-6
5-74442238-G-T p.His1000Asn missense ANKRD31 4 79846 5.00964E-5 39923 0 6.25E-4
5-74442246-G-C p.Ser997Cys missense ANKRD31 1 79734 1.25417E-5 39867 0 7.11622E-6
5-74442259-T-C p.Ile993Val missense ANKRD31 47 79616 5.90334E-4 39808 0 7.32577E-4
5-74442305-T-C p.Ser977Ser synonymous ANKRD31 2 79686 2.50985E-5 39843 0 NA
5-74442308-A-G p.Tyr976Tyr synonymous ANKRD31 2 79712 2.50903E-5 39856 0 7.11693E-6
5-74442320-A-T p.Val972Val synonymous ANKRD31 1 79904 1.2515E-5 39952 0 7.10884E-6
5-74442325-C-G p.Ala971Pro missense ANKRD31 1 79996 1.25006E-5 39998 0 5.83499E-5
5-74442356-T-G p.Ala960Ala synonymous ANKRD31 2 80454 2.48589E-5 40227 0 6.36983E-5
5-74442361-T-G p.Lys959Gln missense ANKRD31 1 80498 1.24227E-5 40249 0 6.37146E-5
5-74442362-T-C p.Leu958Leu synonymous ANKRD31 1 80512 1.24205E-5 40256 0 NA
5-74442373-C-T p.Glu955Lys missense ANKRD31 2 80570 2.48231E-5 40285 0 1.74825E-4
5-74442390-T-C p.Glu949Gly missense ANKRD31 2 80650 2.47985E-5 40325 0 NA
5-74442398-T-C p.Leu946Leu synonymous ANKRD31 7 80654 8.67905E-5 40327 0 2.13123E-5
5-74442410-G-A p.Phe942Phe synonymous ANKRD31 35979 80276 0.448191 40138 8863 0.524652
5-74442419-T-C p.Glu939Glu synonymous ANKRD31 243 80664 0.0030125 40332 1 0.00500446
5-74442437-A-T p.Asn933Lys missense ANKRD31 2 80536 2.48336E-5 40268 0 7.14255E-6
5-74442438-T-C p.Asn933Ser missense ANKRD31 4 80542 4.96635E-5 40271 0 NA
5-74442439-TCTC-T p.Glu932del conservative_inframe_deletion ANKRD31 2 80524 2.48373E-5 40262 0 NA
5-74442458-T-G p.Lys926Asn missense ANKRD31 2 80406 2.48738E-5 40203 0 5.70386E-5
5-74442485-C-A p.Lys917Asn missense ANKRD31 2 80328 2.48979E-5 40164 0 6.38081E-5
5-74442486-T-C p.Lys917Arg missense ANKRD31 1 80318 1.24505E-5 40159 0 2.13211E-5
5-74442494-T-A p.Thr914Thr synonymous ANKRD31 1 80298 1.24536E-5 40149 0 7.10136E-6
5-74442499-T-C p.Ile913Val missense ANKRD31 11 80314 1.36962E-4 40157 0 9.55962E-5
5-74442513-G-A p.Thr908Ile missense ANKRD31 1 80254 1.24604E-5 40127 0 NA
5-74442520-AATC-A p.Asp905del conservative_inframe_deletion ANKRD31 1 80238 1.24629E-5 40119 0 7.10591E-6
5-74442525-T-A p.Asp904Val missense ANKRD31 3 80346 3.73385E-5 40173 0 3.5459E-5
5-74442526-C-A p.Asp904Tyr missense ANKRD31 1 80356 1.24446E-5 40178 0 NA
5-74442528-T-A p.Asp903Val missense ANKRD31 1 80380 1.24409E-5 40190 0 NA
5-74442535-CATT-C p.Asn900del conservative_inframe_deletion ANKRD31 6 80458 7.45731E-5 40229 0 4.96243E-5
5-74442556-C-T p.Val894Ile missense ANKRD31 8 80596 9.92605E-5 40298 0 0.00159398
5-74442561-G-T p.Ser892Tyr missense ANKRD31 1 80626 1.24029E-5 40313 0 5.73921E-5
5-74442561-G-A p.Ser892Phe missense ANKRD31 2 80626 2.48059E-5 40313 0 NA
5-74442566-GA-G p.Phe890fs frameshift ANKRD31 1 80634 1.24017E-5 40317 0 7.08436E-6
5-74442567-A-G p.Phe890Ser missense ANKRD31 1 80650 1.23993E-5 40325 0 NA
5-74442610-A-T p.Leu876Met missense ANKRD31 1 80860 1.23671E-5 40430 0 NA
5-74442618-T-C p.Asn873Ser missense ANKRD31 2 80904 2.47207E-5 40452 0 4.95407E-5
5-74442627-G-A p.Ser870Phe missense ANKRD31 1 80904 1.23603E-5 40452 0 6.25E-4
5-74442656-G-C p.Leu860Leu synonymous ANKRD31 2 80856 2.47353E-5 40428 0 6.37511E-5
5-74442660-G-A p.Thr859Ile missense ANKRD31 1 80842 1.23698E-5 40421 0 3.18776E-5
5-74442668-CTGCT-C p.Lys855fs frameshift ANKRD31 1 80808 1.2375E-5 40404 0 NA
5-74442688-C-T p.Val850Ile missense ANKRD31 3 80662 3.71922E-5 40331 0 NA
5-74442698-G-A p.Ile846Ile synonymous ANKRD31 4 80618 4.96167E-5 40309 0 NA
5-74442701-T-A p.Glu845Asp missense ANKRD31 16 80630 1.98437E-4 40315 0 0.00194352
5-74442718-G-A p.Leu840Phe missense ANKRD31 1 80538 1.24165E-5 40269 0 NA
5-74442720-C-G p.Gly839Ala missense ANKRD31 1 80518 1.24196E-5 40259 0 NA
5-74442743-T-G p.Gln831His missense ANKRD31 1 80442 1.24313E-5 40221 0 NA
5-74442743-T-C p.Gln831Gln synonymous ANKRD31 1 80442 1.24313E-5 40221 0 NA
5-74442748-C-T p.Asp830Asn missense ANKRD31 136 80402 0.0016915 40201 1 0.00375
5-74442770-T-C p.Gln822Gln synonymous ANKRD31 87 80446 0.00108147 40223 1 0.00142988
5-74442775-C-T p.Val821Ile missense ANKRD31 21 80446 2.61045E-4 40223 0 5.73541E-4
5-74442795-T-C p.Asp814Gly missense ANKRD31 6 80410 7.46176E-5 40205 0 9.5584E-5
5-74442800-GT-G p.Asn812fs frameshift ANKRD31 1 80378 1.24412E-5 40189 0 NA
5-74442816-TC-T p.Glu807fs frameshift ANKRD31 2 80266 2.49171E-5 40133 0 3.18634E-5
5-74442819-T-G p.Lys806Thr missense ANKRD31 1 80264 1.24589E-5 40132 0 NA
5-74442834-G-A p.Ala801Val missense ANKRD31 2 80194 2.49395E-5 40097 0 2.8441E-5
5-74442839-A-G p.Thr799Thr synonymous ANKRD31 3 80224 3.73953E-5 40112 0 2.85682E-4
5-74442843-C-T p.Ser798Asn missense ANKRD31 1 80248 1.24614E-5 40124 0 NA
5-74442848-A-C p.Asp796Glu missense ANKRD31 2 80246 2.49234E-5 40123 0 6.37471E-5
5-74442851-T-G p.Leu795Phe missense ANKRD31 2 80258 2.49196E-5 40129 0 NA
5-74442865-G-C p.Leu791Val missense ANKRD31 1 80302 1.2453E-5 40151 0 NA
5-74442874-G-C p.Leu788Val missense ANKRD31 1 80424 1.24341E-5 40212 0 5.67795E-5
5-74442909-A-T p.Leu776His missense ANKRD31 2 81134 2.46506E-5 40567 0 NA
5-74442915-T-C p.Asn774Ser missense ANKRD31 1 81272 1.23044E-5 40636 0 NA
5-74442918-TGA-GGG p.ThrHis772ThrPro missense ANKRD31 3 81384 3.68623E-5 40692 0 NA
5-74442918-T-G p.His773Pro missense ANKRD31 2 81384 2.45749E-5 40692 0 1.39489E-4
5-74442919-G-A p.His773Tyr missense ANKRD31 1 81390 1.22865E-5 40695 0 0.0025
5-74442920-A-G p.Thr772Thr synonymous ANKRD31 35713 80490 0.443695 40245 8615 0.542714
5-74442923-T-C p.Glu771Glu synonymous ANKRD31 1 81488 1.22717E-5 40744 0 3.18695E-5
5-74442931-T-A p.Ile769Phe missense ANKRD31 1 81664 1.22453E-5 40832 0 6.96272E-6
5-74442938-C-T p.Gln766Gln synonymous ANKRD31 8 81778 9.78258E-5 40889 0 1.03488E-4
5-74442964-T-C p.Arg758Gly missense ANKRD31 10711 81926 0.13074 40963 761 0.160891
5-74442975-G-A p.Ser754Phe missense ANKRD31 1 82150 1.21729E-5 41075 0 NA
5-74442997-G-A p.Pro747Ser missense ANKRD31 1 82214 1.21634E-5 41107 0 NA
5-74443006-C-T p.Asp744Asn missense ANKRD31 3 82242 3.64777E-5 41121 0 3.18695E-5
5-74443007-T-C p.Val743Val synonymous ANKRD31 1 82238 1.21598E-5 41119 0 5.15889E-5
5-74443032-T-A p.His735Leu missense ANKRD31 1 82268 1.21554E-5 41134 0 NA
5-74443059-T-G p.Lys726Thr missense ANKRD31 2 82302 2.43007E-5 41151 0 6.25E-4
5-74443062-G-A p.Pro725Leu missense ANKRD31 2 82290 2.43043E-5 41145 0 3.18898E-5
5-74443063-G-A p.Pro725Ser missense ANKRD31 47 82288 5.71165E-4 41144 0 0.0012285
5-74443067-G-A p.Asn723Asn synonymous ANKRD31 5 82300 6.07533E-5 41150 0 7.64675E-5
5-74443068-T-C p.Asn723Ser missense ANKRD31 6 82310 7.28951E-5 41155 0 1.6669E-4
5-74443071-G-T p.Thr722Lys missense ANKRD31 3 82318 3.6444E-5 41159 0 6.94956E-6
5-74443076-G-C p.Pro720Pro synonymous ANKRD31 1 82310 1.21492E-5 41155 0 6.95217E-6
5-74443088-G-A p.Asn716Asn synonymous ANKRD31 12 82302 1.45804E-4 41151 0 1.74024E-4
5-74443090-T-C p.Asn716Asp missense ANKRD31 4 82308 4.8598E-5 41154 0 3.18715E-5
5-74443091-A-G p.His715His synonymous ANKRD31 1 82306 1.21498E-5 41153 0 NA
5-74443092-T-C p.His715Arg missense ANKRD31 19 82310 2.30835E-4 41155 0 2.06868E-4
5-74443104-T-C p.Lys711Arg missense ANKRD31 1 82312 1.21489E-5 41156 0 9.5584E-5
5-74443111-G-A p.Leu709Phe missense ANKRD31 6 82314 7.28916E-5 41157 0 1.55312E-4
5-74443117-T-C p.Thr707Ala missense ANKRD31 1 82316 1.21483E-5 41158 0 NA
5-74443121-G-A p.Tyr705Tyr synonymous ANKRD31 158 82308 0.00191962 41154 1 0.00290179
5-74443125-A-G p.Ile704Thr missense ANKRD31 7 82298 8.50567E-5 41149 0 3.4946E-5
5-74443129-G-A p.Gln703* stop_gained ANKRD31 2 82288 2.43049E-5 41144 0 NA
5-74443132-C-T p.Asp702Asn missense ANKRD31 36593 81912 0.446736 40956 8970 0.53625
5-74443171-T-C p.Thr689Ala missense ANKRD31 2 82154 2.43445E-5 41077 0 NA
5-74443177-T-G p.Lys687Gln missense ANKRD31 19 82118 2.31374E-4 41059 0 4.46372E-4
5-74443186-T-C p.Lys684Glu missense ANKRD31 1 82068 1.2185E-5 41034 0 7.1051E-6
5-74443190-G-A p.Tyr682Tyr synonymous ANKRD31 1 82018 1.21924E-5 41009 0 6.38855E-5
5-74443196-T-C p.Glu680Glu synonymous ANKRD31 1 81990 1.21966E-5 40995 0 1.44022E-5
5-74443203-A-G p.Val678Ala missense ANKRD31 4 81938 4.88174E-5 40969 0 2.91549E-5
5-74443206-T-A p.Asp677Val missense ANKRD31 2 81892 2.44224E-5 40946 0 NA
5-74443217-T-C p.Ile673Met missense ANKRD31 2 81786 2.44541E-5 40893 0 7.50345E-6
5-74443218-A-G p.Ile673Thr missense ANKRD31 3 81770 3.66883E-5 40885 0 9.5706E-5
5-74443229-C-T p.Ala669Ala synonymous ANKRD31 9 81672 1.10197E-4 40836 0 6.25782E-4
5-74443230-G-A p.Ala669Val missense ANKRD31 1 81640 1.22489E-5 40820 0 3.75962E-5
5-74443231-C-T p.Ala669Thr missense ANKRD31 1 81662 1.22456E-5 40831 0 7.55207E-6
5-74443235-G-A p.Ser667Ser synonymous ANKRD31 2 81676 2.4487E-5 40838 0 NA
5-74443238-T-C p.Gly666Gly synonymous ANKRD31 1 81680 1.22429E-5 40840 0 0.00165848
5-74443246-T-C p.Asn664Asp missense ANKRD31 1 81636 1.22495E-5 40818 0 7.61232E-6
5-74443289-A-C p.Tyr649* stop_gained ANKRD31 1 81200 1.23153E-5 40600 0 NA
5-74443295-A-C p.His647Gln missense ANKRD31 2 81096 2.46621E-5 40548 0 NA
5-74443299-C-T p.Trp646* stop_gained ANKRD31 6 80976 7.4096E-5 40488 0 9.57854E-5
5-74443303-T-C p.Ile645Val missense ANKRD31 12 80896 1.48339E-4 40448 0 5.64589E-4
5-74443308-CT-C p.Ser643fs frameshift ANKRD31 4 80690 4.95724E-5 40345 0 1.03972E-4
5-74443317-C-A p.Ser640Ile missense ANKRD31 6 80480 7.45527E-5 40240 0 9.57549E-5
5-74443319-GA-G p.Phe639fs frameshift ANKRD31 1 80184 1.24713E-5 40092 0 6.58172E-5
5-74443332-T-C c.1906-2A>G splice_acceptor ANKRD31 15 79542 1.8858E-4 39771 0 9.59141E-5
5-74443334-T-C c.1906-4A>G splice_region ANKRD31 1 79378 1.25979E-5 39689 0 1.45129E-5
5-74443336-G-GA c.1906-7_1906-6insT splice_region ANKRD31 1 79264 1.26161E-5 39632 0 7.78041E-5
5-74443337-A-G c.1906-7T>C splice_region ANKRD31 1 79180 1.26295E-5 39590 0 NA
5-74444403-T-G p.Lys635Gln missense+splice_region ANKRD31 1 80172 1.24732E-5 40086 0 NA
5-74444411-T-C p.Tyr632Cys missense ANKRD31 5 80406 6.21844E-5 40203 0 2.09453E-4
5-74444423-A-G p.Ile628Thr missense ANKRD31 2 80482 2.48503E-5 40241 0 1.04167E-4
5-74444441-C-T p.Ser622Asn missense ANKRD31 2 80518 2.48392E-5 40259 0 5.20671E-5
5-74444448-T-G p.Arg620Arg synonymous ANKRD31 27 80328 3.36122E-4 40164 0 0.001875
5-74444458-A-C c.1853-5T>G splice_region ANKRD31 13 80178 1.62139E-4 40089 0 1.72066E-4
5-74450021-C-T c.1852+5G>A splice_region ANKRD31 3 80536 3.72504E-5 40268 0 1.53492E-5
5-74450031-G-C p.Thr616Arg missense ANKRD31 1 80978 1.2349E-5 40489 0 NA
5-74450031-G-A p.Thr616Ile missense ANKRD31 1 80978 1.2349E-5 40489 0 NA
5-74450039-T-C p.Lys613Lys synonymous ANKRD31 1 81126 1.23265E-5 40563 0 NA
5-74450073-C-T p.Arg602His missense ANKRD31 39 81928 4.76028E-4 40964 0 0.00124688
5-74450074-G-A p.Arg602Cys missense ANKRD31 3 81928 3.66175E-5 40964 0 6.26479E-5
5-74450083-A-G p.Cys599Arg missense ANKRD31 2 82000 2.43902E-5 41000 0 6.36902E-5
5-74450089-C-A p.Asp597Tyr missense ANKRD31 1 82022 1.21919E-5 41011 0 NA
5-74450100-TC-T p.Asp593fs frameshift ANKRD31 1 82060 1.21862E-5 41030 0 NA
5-74450118-T-C p.Asp587Gly missense ANKRD31 3 82050 3.65631E-5 41025 0 1.51485E-4
5-74450122-C-T p.Asp586Asn missense ANKRD31 1 82030 1.21907E-5 41015 0 NA
5-74450171-C-G c.1708-1G>C splice_acceptor ANKRD31 1 81598 1.22552E-5 40799 0 NA
5-74464796-C-T c.1707+8G>A splice_region ANKRD31 2 81662 2.44912E-5 40831 0 7.01272E-6
5-74464799-A-G c.1707+5T>C splice_region ANKRD31 2 81736 2.4469E-5 40868 0 3.18512E-5
5-74464800-G-A c.1707+4C>T splice_region ANKRD31 1 81752 1.22321E-5 40876 0 NA
5-74464803-C-T c.1707+1G>A splice_donor ANKRD31 3 81820 3.66659E-5 40910 0 6.37267E-5
5-74464803-C-A c.1707+1G>T splice_donor ANKRD31 1 81820 1.2222E-5 40910 0 NA
5-74464817-T-C p.Asn565Ser missense ANKRD31 131 81990 0.00159776 40995 0 0.00127013
5-74464827-C-T p.Ala562Thr missense ANKRD31 1 82042 1.21889E-5 41021 0 2.77054E-5
5-74464832-T-A p.His560Leu missense ANKRD31 1 82064 1.21856E-5 41032 0 6.91974E-6
5-74464836-G-T p.Leu559Ile missense ANKRD31 1 82064 1.21856E-5 41032 0 NA
5-74464842-T-C p.Thr557Ala missense ANKRD31 131 82046 0.00159667 41023 0 0.00204004
5-74464843-A-T p.Ile556Ile synonymous ANKRD31 1 82042 1.21889E-5 41021 0 NA
5-74464849-G-T p.Tyr554* stop_gained ANKRD31 1 82062 1.21859E-5 41031 0 NA
5-74464851-A-G p.Tyr554His missense ANKRD31 1 82082 1.21829E-5 41041 0 3.18512E-5
5-74464852-T-C p.Leu553Leu synonymous ANKRD31 3 82090 3.65453E-5 41045 0 3.18573E-5
5-74464857-C-T p.Gly552Arg missense ANKRD31 1 82082 1.21829E-5 41041 0 NA
5-74464864-A-G p.Asn549Asn synonymous ANKRD31 2523 82078 0.0307391 41039 72 0.0577889
5-74464872-C-T p.Asp547Asn missense ANKRD31 1 82080 1.21832E-5 41040 0 NA
5-74464873-T-G p.Ala546Ala synonymous ANKRD31 3 82084 3.65479E-5 41042 0 3.18573E-5
5-74464898-G-T p.Ala538Glu missense ANKRD31 2 82126 2.43528E-5 41063 0 4.9373E-5
5-74464899-C-T p.Ala538Thr missense ANKRD31 2 82104 2.43593E-5 41052 0 4.93389E-5
5-74464905-G-C p.Arg536Gly missense ANKRD31 1 82092 1.21815E-5 41046 0 4.92078E-5
5-74464905-G-A p.Arg536Trp missense ANKRD31 1 82092 1.21815E-5 41046 0 1.37195E-5
5-74464914-C-T p.Gly533Arg missense ANKRD31 1 82140 1.21743E-5 41070 0 3.18613E-5
5-74464926-C-T p.Ala529Thr missense ANKRD31 1 82156 1.2172E-5 41078 0 NA
5-74464945-A-C p.Gly522Gly splice_region+synonymous ANKRD31 1 82134 1.21752E-5 41067 0 NA
5-74464946-C-T p.Gly522Asp missense+splice_region ANKRD31 1 82114 1.21782E-5 41057 0 NA
5-74484313-C-T c.1564+5G>A splice_region ANKRD31 1 82080 1.21832E-5 41040 0 NA
5-74484317-C-T c.1564+1G>A splice_donor ANKRD31 1 82104 1.21797E-5 41052 0 NA
5-74484329-G-A p.Pro518Leu missense ANKRD31 39 82124 4.74892E-4 41062 0 0.00105075
5-74484330-G-A p.Pro518Ser missense ANKRD31 3 82124 3.65301E-5 41062 0 NA
5-74484333-GATTAAC-G p.Val515_Asn516del conservative_inframe_deletion ANKRD31 1 82130 1.21758E-5 41065 0 NA
5-74484333-G-T p.Gln517Lys missense ANKRD31 1 82130 1.21758E-5 41065 0 NA
5-74484335-T-C p.Asn516Ser missense ANKRD31 3 82138 3.65239E-5 41069 0 1.40005E-5
5-74484340-A-C p.Asn514Lys missense ANKRD31 2 82146 2.43469E-5 41073 0 1.58865E-4
5-74484347-C-T p.Gly512Asp missense ANKRD31 1 82132 1.21755E-5 41066 0 NA
5-74484369-C-A p.Val505Phe missense ANKRD31 1 82094 1.21812E-5 41047 0 NA
5-74484370-A-T p.Leu504Leu synonymous ANKRD31 1 82088 1.2182E-5 41044 0 1.39388E-5
5-74484388-T-C p.Leu498Leu synonymous ANKRD31 1 82048 1.2188E-5 41024 0 NA
5-74484400-A-G p.Tyr494Tyr synonymous ANKRD31 3 81966 3.66005E-5 40983 0 6.25E-4
5-74484405-C-T p.Val493Ile missense ANKRD31 1 81956 1.22017E-5 40978 0 NA
5-74484414-C-T p.Glu490Lys missense ANKRD31 3 81912 3.66247E-5 40956 0 NA
5-74484423-T-A p.Ile487Phe missense ANKRD31 1 81872 1.22142E-5 40936 0 NA
5-74484432-G-A p.Arg484Trp missense ANKRD31 58 81794 7.09098E-4 40897 1 0.00108363
5-74484432-G-T p.Arg484Arg synonymous ANKRD31 2 81794 2.44517E-5 40897 0 NA
5-74484443-TG-T p.His480fs frameshift ANKRD31 1 81716 1.22375E-5 40858 0 NA
5-74484448-A-G p.Ser478Ser synonymous ANKRD31 43 81634 5.26741E-4 40817 0 6.25E-4
5-74484451-T-G p.Ile477Ile synonymous ANKRD31 2 81588 2.45134E-5 40794 0 6.36983E-5
5-74484460-C-T p.Val474Val synonymous ANKRD31 1 81446 1.22781E-5 40723 0 NA
5-74484463-C-T p.Lys473Lys synonymous ANKRD31 11 81384 1.35162E-4 40692 0 3.82385E-4
5-74484464-T-C p.Lys473Arg missense ANKRD31 1 81374 1.22889E-5 40687 0 7.50199E-6
5-74484467-A-AT p.Met472fs frameshift ANKRD31 3 81326 3.68886E-5 40663 0 1.49858E-5
5-74488486-C-T c.1408+6G>A splice_region ANKRD31 20 81362 2.45815E-4 40681 1 3.79695E-4
5-74488491-C-T c.1408+1G>A splice_donor ANKRD31 2 81482 2.45453E-5 40741 0 3.18492E-5
5-74488491-C-A c.1408+1G>T splice_donor ANKRD31 1 81482 1.22726E-5 40741 0 NA
5-74488492-CT-C p.Glu470fs frameshift ANKRD31 4 81524 4.90653E-5 40762 0 3.67842E-5
5-74488493-T-C p.Lys469Lys splice_region+synonymous ANKRD31 1 81524 1.22663E-5 40762 0 3.18837E-5
5-74488523-G-A p.Ile459Ile synonymous ANKRD31 8 81852 9.77374E-5 40926 0 4.14673E-4
5-74488527-T-C p.Gln458Arg missense ANKRD31 1 81894 1.22109E-5 40947 0 NA
5-74488528-G-T p.Gln458Lys missense ANKRD31 1 81904 1.22094E-5 40952 0 6.25E-4
5-74488545-C-T p.Arg452Lys missense ANKRD31 1 81946 1.22032E-5 40973 0 6.99536E-6
5-74488548-G-A p.Ala451Val missense ANKRD31 3 81936 3.66139E-5 40968 0 NA
5-74488573-C-T p.Gly443Ser missense ANKRD31 2 81894 2.44218E-5 40947 0 NA
5-74488590-G-A p.Pro437Leu missense ANKRD31 3080 81582 0.0377534 40791 116 0.07875
5-74488591-G-A p.Pro437Ser missense ANKRD31 1 81724 1.22363E-5 40862 0 7.18742E-6
5-74488593-T-C p.Asp436Gly missense ANKRD31 4 81718 4.89488E-5 40859 0 1.01358E-4
5-74488596-T-C p.Gln435Arg missense ANKRD31 1 81646 1.2248E-5 40823 0 7.29586E-6
5-74488608-A-T c.1299-7T>A splice_region ANKRD31 2 81444 2.45567E-5 40722 0 2.99437E-5
5-74489135-C-T c.1298+1G>A splice_donor ANKRD31 2 80834 2.47421E-5 40417 0 7.00359E-6
5-74489139-A-G p.Phe432Ser missense ANKRD31 1 80980 1.23487E-5 40490 0 0.00125
5-74489148-G-C p.Ala429Gly missense ANKRD31 1 81196 1.23159E-5 40598 0 2.86588E-4
5-74489157-T-G p.Asn426Thr missense ANKRD31 1 81444 1.22784E-5 40722 0 NA
5-74489173-C-T p.Asp421Asn missense ANKRD31 13 81662 1.59193E-4 40831 0 3.18552E-4
5-74489178-C-G p.Cys419Ser missense ANKRD31 5 81734 6.11741E-5 40867 0 0.00216539
5-74489186-G-A p.Ile416Ile synonymous ANKRD31 1 81772 1.22291E-5 40886 0 NA
5-74489194-G-A p.Pro414Ser missense ANKRD31 4 81868 4.88591E-5 40934 0 6.37511E-5
5-74489203-T-C p.Lys411Glu missense ANKRD31 1 81960 1.22011E-5 40980 0 NA
5-74489212-T-A p.Met408Leu missense ANKRD31 1 82048 1.2188E-5 41024 0 NA
5-74489217-T-A p.Tyr406Phe missense ANKRD31 4 82088 4.87282E-5 41044 0 6.89123E-6
5-74489220-A-G p.Met405Thr missense ANKRD31 2 82112 2.4357E-5 41056 0 5.02159E-5
5-74489223-T-G p.His404Pro missense ANKRD31 3 82118 3.65328E-5 41059 0 NA
5-74489223-T-C p.His404Arg missense ANKRD31 1 82118 1.21776E-5 41059 0 NA
5-74489228-T-C p.Ser402Ser synonymous ANKRD31 1 82162 1.21711E-5 41081 0 NA
5-74489229-G-A p.Ser402Leu missense ANKRD31 1 82176 1.2169E-5 41088 0 NA
5-74489242-C-T p.Asp398Asn missense ANKRD31 2 82218 2.43256E-5 41109 0 1.37393E-5
5-74489246-GCTTA-G p.Val395fs frameshift ANKRD31 4 82216 4.86523E-5 41108 0 4.96081E-5
5-74489249-T-C p.Val395Val synonymous ANKRD31 4 82228 4.86452E-5 41114 0 9.90786E-5
5-74489264-T-C p.Leu390Leu synonymous ANKRD31 1 82248 1.21584E-5 41124 0 1.37086E-5
5-74489271-G-T p.Ser388Tyr missense ANKRD31 1 82236 1.21601E-5 41118 0 NA
5-74489277-C-G p.Arg386Thr missense ANKRD31 1 82232 1.21607E-5 41116 0 NA
5-74489282-C-G p.Leu384Phe missense ANKRD31 1 82232 1.21607E-5 41116 0 4.79682E-5
5-74489289-C-T p.Cys382Tyr missense ANKRD31 1 82210 1.2164E-5 41105 0 3.18431E-5
5-74489291-C-T p.Ala381Ala synonymous ANKRD31 6 82208 7.29856E-5 41104 0 2.9513E-4
5-74489291-C-G p.Ala381Ala synonymous ANKRD31 1 82208 1.21643E-5 41104 0 3.18471E-5
5-74489292-G-A p.Ala381Val missense ANKRD31 9 82200 1.09489E-4 41100 0 1.47623E-4
5-74489294-A-G p.Thr380Thr synonymous ANKRD31 4 82196 4.86642E-5 41098 0 NA
5-74489301-T-C p.Gln378Arg missense ANKRD31 1 82182 1.21681E-5 41091 0 3.18512E-5
5-74489313-T-C p.Asn374Ser missense ANKRD31 4 82096 4.87234E-5 41048 0 NA
5-74489320-C-A p.Val372Leu missense ANKRD31 2 82024 2.43831E-5 41012 0 NA
5-74489326-T-A p.Asn370Tyr missense ANKRD31 2 81986 2.43944E-5 40993 0 6.36943E-5
5-74489350-G-A p.Pro362Ser missense ANKRD31 1 81664 1.22453E-5 40832 0 NA
5-74489355-C-A p.Cys360Phe missense ANKRD31 2 81614 2.45056E-5 40807 0 NA
5-74489364-A-G p.Ile357Thr missense ANKRD31 4 81506 4.90761E-5 40753 0 1.38789E-5
5-74489370-T-C p.Gln355Arg missense ANKRD31 6 81410 7.3701E-5 40705 0 1.02934E-4
5-74489374-G-A p.His354Tyr missense ANKRD31 2 81364 2.45809E-5 40682 0 9.55292E-5
5-74489377-C-T p.Ala353Thr missense ANKRD31 1 81284 1.23025E-5 40642 0 NA
5-74489399-AT-A p.Asn345fs frameshift ANKRD31 2 80880 2.4728E-5 40440 0 NA
5-74489401-T-G p.Asn345His missense ANKRD31 1 80846 1.23692E-5 40423 0 NA
5-74489405-G-A p.Asp343Asp synonymous ANKRD31 9 80734 1.11477E-4 40367 0 3.18512E-5
5-74491468-T-C p.Thr335Thr synonymous ANKRD31 58 82072 7.06697E-4 41036 1 0.00184749
5-74491468-T-G p.Thr335Thr synonymous ANKRD31 10 82072 1.21844E-4 41036 0 4.77798E-4
5-74491479-C-T p.Glu332Lys missense ANKRD31 3 82082 3.65488E-5 41041 0 NA
5-74491486-C-T p.Gln329Gln synonymous ANKRD31 4 82064 4.87424E-5 41032 0 6.25861E-5
5-74491488-G-A p.Gln329* stop_gained ANKRD31 1 82076 1.21838E-5 41038 0 3.18512E-5
5-74491492-C-T p.Thr327Thr synonymous ANKRD31 2095 82000 0.0255488 41000 31 0.0275
5-74491493-G-A p.Thr327Met missense ANKRD31 2 82080 2.43665E-5 41040 0 6.91888E-6
5-74491493-G-C p.Thr327Arg missense ANKRD31 1 82080 1.21832E-5 41040 0 NA
5-74491500-A-G p.Phe325Leu missense ANKRD31 2 82108 2.43582E-5 41054 0 3.19734E-5
5-74491514-CAT-C p.Cys320fs frameshift ANKRD31 1 82108 1.21791E-5 41054 0 NA
5-74491527-C-T p.Ala316Thr missense ANKRD31 4 82088 4.87282E-5 41044 0 3.18512E-5
5-74491538-C-T p.Ser312Asn missense ANKRD31 2 82124 2.43534E-5 41062 0 3.31911E-4
5-74491555-G-A p.His306His synonymous ANKRD31 39 82158 4.74695E-4 41079 0 0.00105122
5-74491570-C-T p.Val301Val synonymous ANKRD31 3 82150 3.65186E-5 41075 0 6.85251E-6
5-74491581-C-T p.Glu298Lys missense ANKRD31 1 82188 1.21672E-5 41094 0 2.87411E-4
5-74491587-A-G p.Leu296Leu synonymous ANKRD31 8 82188 9.73378E-5 41094 0 NA
5-74491596-G-C p.Leu293Val missense ANKRD31 1 82168 1.21702E-5 41084 0 NA
5-74491599-C-T p.Ala292Thr missense ANKRD31 2 82160 2.43427E-5 41080 0 NA
5-74491612-A-T p.Ala287Ala synonymous ANKRD31 12 82156 1.46064E-4 41078 0 4.14013E-4
5-74491615-T-C p.Pro286Pro synonymous ANKRD31 32 82156 3.89503E-4 41078 0 6.45897E-4
5-74491615-T-A p.Pro286Pro synonymous ANKRD31 1 82156 1.2172E-5 41078 0 6.87125E-6
5-74491620-A-G p.Leu285Leu synonymous ANKRD31 20 82150 2.43457E-4 41075 0 4.38127E-4
5-74491635-C-T p.Ala280Thr missense ANKRD31 3 82100 3.65408E-5 41050 0 6.88829E-6
5-74491637-T-C p.Asp279Gly missense ANKRD31 3 82100 3.65408E-5 41050 0 NA
5-74491638-C-T p.Asp279Asn missense ANKRD31 1 82102 1.218E-5 41051 0 4.13343E-5
5-74491648-A-G p.Asp275Asp synonymous ANKRD31 3 82092 3.65444E-5 41046 0 NA
5-74491649-T-C p.Asp275Gly missense ANKRD31 5 82098 6.09028E-5 41049 0 3.18552E-5
5-74491657-A-G p.Cys272Cys synonymous ANKRD31 1 82096 1.21809E-5 41048 0 3.18532E-5
5-74491658-C-T p.Cys272Tyr missense ANKRD31 1 82088 1.2182E-5 41044 0 1.27405E-4
5-74491660-T-C p.Ala271Ala synonymous ANKRD31 26 82082 3.16756E-4 41041 0 6.36943E-5
5-74491667-C-G p.Trp269Ser missense ANKRD31 2 82094 2.43623E-5 41047 0 NA
5-74491667-C-T p.Trp269* stop_gained ANKRD31 1 82094 1.21812E-5 41047 0 NA
5-74491679-G-C p.Pro265Arg missense ANKRD31 9 82118 1.09598E-4 41059 0 2.82447E-4
5-74491680-G-T p.Pro265Thr missense ANKRD31 1 82112 1.21785E-5 41056 0 4.93681E-5
5-74491683-T-C p.Ile264Val missense ANKRD31 3 82114 3.65346E-5 41057 0 9.61477E-5
5-74491685-G-A p.Ser263Leu missense ANKRD31 1 82126 1.21764E-5 41063 0 NA
5-74491715-TTCA-T p.Met252del disruptive_inframe_deletion ANKRD31 36445 81910 0.44494 40955 8845 0.528894
5-74491730-C-T p.Arg248His missense ANKRD31 4 82100 4.87211E-5 41050 0 1.51791E-4
5-74491742-C-T p.Ser244Asn missense ANKRD31 96 82066 0.00116979 41033 1 0.0025
5-74491752-C-T p.Glu241Lys missense ANKRD31 1 81990 1.21966E-5 40995 0 NA
5-74491762-T-C p.Glu237Glu synonymous ANKRD31 1 81874 1.22139E-5 40937 0 NA
5-74491763-T-C p.Glu237Gly missense ANKRD31 1 81846 1.22181E-5 40923 0 NA
5-74491771-G-A p.Thr234Thr synonymous ANKRD31 1 81726 1.2236E-5 40863 0 NA
5-74491786-T-C p.Thr229Thr synonymous ANKRD31 2 81592 2.45122E-5 40796 0 5.46807E-5
5-74491787-G-A p.Thr229Ile missense ANKRD31 39 81578 4.7807E-4 40789 0 0.0012738
5-74491788-T-A p.Thr229Ser missense ANKRD31 1 81558 1.22612E-5 40779 0 NA
5-74491806-C-T p.Ala223Thr missense ANKRD31 1 81336 1.22947E-5 40668 0 NA
5-74491826-G-C p.Ser216Cys missense ANKRD31 11 81164 1.35528E-4 40582 0 6.50731E-5
5-74491838-T-C p.Asp212Gly missense ANKRD31 4 81086 4.93303E-5 40543 0 3.50385E-4
5-74491840-C-A p.Lys211Asn missense ANKRD31 27 81120 3.3284E-4 40560 0 2.23414E-4
5-74491861-G-T p.Thr204Thr synonymous ANKRD31 26 81146 3.2041E-4 40573 0 5.43596E-4
5-74491868-G-A p.Thr202Ile missense ANKRD31 2 81176 2.46378E-5 40588 0 NA
5-74491871-A-G p.Val201Ala missense ANKRD31 1 81186 1.23174E-5 40593 0 2.80065E-5
5-74491895-G-A p.Thr193Ile missense ANKRD31 1 81410 1.22835E-5 40705 0 NA
5-74491898-T-A p.Asn192Ile missense ANKRD31 451 81400 0.00554054 40700 3 0.0114389
5-74491905-CT-GG p.AlaAla189AlaPro missense ANKRD31 1 81482 1.22726E-5 40741 0 NA
5-74491921-T-C p.Pro184Pro synonymous ANKRD31 2 81602 2.45092E-5 40801 0 NA
5-74491928-A-G p.Val182Ala missense ANKRD31 6 81632 7.35006E-5 40816 0 4.86422E-5
5-74491945-T-C p.Val176Val synonymous ANKRD31 1 81694 1.22408E-5 40847 0 NA
5-74491955-G-A p.Thr173Ile missense ANKRD31 1 81680 1.22429E-5 40840 0 5.78436E-5
5-74491956-T-C p.Thr173Ala missense ANKRD31 2598 81616 0.031832 40808 90 0.056334
5-74491961-G-A p.Ser171Phe missense ANKRD31 1 81692 1.22411E-5 40846 0 6.36902E-5
5-74491963-T-C p.Val170Val synonymous ANKRD31 1 81698 1.22402E-5 40849 0 3.1839E-5
5-74491971-T-C p.Ile168Val missense ANKRD31 1 81718 1.22372E-5 40859 0 3.1841E-5
5-74491980-C-T p.Gly165Ser missense ANKRD31 1 81672 1.22441E-5 40836 0 6.25E-4
5-74491981-T-C p.Ser164Ser synonymous ANKRD31 2 81666 2.449E-5 40833 0 NA
5-74492001-G-A p.Pro158Ser missense ANKRD31 1 81484 1.22723E-5 40742 0 2.958E-5
5-74492026-C-T c.448-1G>A splice_acceptor ANKRD31 1 80910 1.23594E-5 40455 0 1.27307E-5
5-74495450-A-C c.447+6T>G splice_region ANKRD31 1 80182 1.24716E-5 40091 0 NA
5-74495465-G-C p.His146Gln missense ANKRD31 1 80522 1.2419E-5 40261 0 NA
5-74495503-G-GA c.404-5_404-4insT splice_region ANKRD31 47 80398 5.84592E-4 40199 0 0.00106617
5-74502239-C-T p.Glu134Lys missense ANKRD31 1 77920 1.28337E-5 38960 0 NA
5-74502240-A-G p.Ile133Ile synonymous ANKRD31 1 77962 1.28268E-5 38981 0 NA
5-74502249-G-A p.His130His synonymous ANKRD31 1 78324 1.27675E-5 39162 0 8.66641E-6
5-74502257-A-G p.Leu128Leu synonymous ANKRD31 2 78820 2.53743E-5 39410 0 8.45223E-6
5-74502259-G-C p.Ser127* stop_gained ANKRD31 1 78932 1.26691E-5 39466 0 6.71772E-5
5-74502274-C-T p.Arg122His missense ANKRD31 4 78924 5.06817E-5 39462 0 0.00382653
5-74502275-G-A p.Arg122Cys missense ANKRD31 4 78910 5.06907E-5 39455 0 0.00254453
5-74502280-G-A p.Ser120Leu missense ANKRD31 1 78622 1.27191E-5 39311 0 NA
5-74502287-T-C p.Ile118Val missense ANKRD31 2 78426 2.55017E-5 39213 0 NA
5-74502291-C-T p.Met116Ile missense ANKRD31 1 78284 1.2774E-5 39142 0 3.76032E-5
5-74502293-T-C p.Met116Val missense ANKRD31 1 78250 1.27796E-5 39125 0 3.33712E-5
5-74502299-A-G p.Cys114Arg missense ANKRD31 3 77646 3.86369E-5 38823 0 6.63746E-5
5-74502308-T-C p.Arg111Gly missense ANKRD31 4 77258 5.17746E-5 38629 0 NA
5-74502310-G-A p.Thr110Ile missense+splice_region ANKRD31 1 76922 1.30002E-5 38461 0 5.30448E-5
5-74502314-T-C c.327-2A>G splice_acceptor ANKRD31 1 76568 1.30603E-5 38284 0 6.60153E-5
5-74506647-A-G c.326+6T>C splice_region ANKRD31 1 79348 1.26027E-5 39674 0 8.85912E-6
5-74506658-C-T p.Leu107Leu synonymous ANKRD31 17431 78674 0.22156 39337 2118 0.330625
5-74506671-C-T p.Arg103Gln missense ANKRD31 3 79394 3.77862E-5 39697 0 6.74554E-4
5-74506672-G-A p.Arg103* stop_gained ANKRD31 4 79386 5.03867E-5 39693 0 3.20102E-5
5-74506684-C-T p.Asp99Asn missense ANKRD31 1 79434 1.25891E-5 39717 0 NA
5-74506698-G-A c.289-8C>T splice_region ANKRD31 2 78772 2.53897E-5 39386 0 NA
5-74518076-G-C p.Gln96Glu missense+splice_region ANKRD31 1 81376 1.22886E-5 40688 0 3.18492E-5
5-74518082-T-C p.Ile94Val missense ANKRD31 1 81472 1.22742E-5 40736 0 1.38926E-5
5-74518084-G-T p.Thr93Lys missense ANKRD31 2 81472 2.45483E-5 40736 0 NA
5-74518091-C-T p.Glu91Lys missense ANKRD31 2 81478 2.45465E-5 40739 0 6.25E-4
5-74518092-G-A p.Ser90Ser synonymous ANKRD31 15 81494 1.84063E-4 40747 0 1.55039E-4
5-74518103-G-C p.Pro87Ala missense ANKRD31 2 81594 2.45116E-5 40797 0 2.08241E-5
5-74518104-C-T p.Met86Ile missense ANKRD31 1 81584 1.22573E-5 40792 0 3.18695E-5
5-74518110-C-G p.Lys84Asn missense ANKRD31 12 81610 1.47041E-4 40805 0 6.24601E-5
5-74518111-T-C p.Lys84Arg missense ANKRD31 1 81614 1.22528E-5 40807 0 NA
5-74518118-T-C p.Lys82Glu missense ANKRD31 3 81602 3.67638E-5 40801 0 3.18471E-5
5-74518126-T-C p.Gln79Arg missense ANKRD31 2 81564 2.45206E-5 40782 0 NA
5-74518134-C-T p.Leu76Leu synonymous ANKRD31 4 81566 4.904E-5 40783 0 3.18512E-5
5-74518155-T-C p.Gly69Gly synonymous ANKRD31 1 81470 1.22745E-5 40735 0 NA
5-74518169-CAGG-C p.Pro64del conservative_inframe_deletion ANKRD31 1 81438 1.22793E-5 40719 0 5.17331E-5
5-74518172-G-A p.Pro64Ser missense ANKRD31 1 81408 1.22838E-5 40704 0 NA
5-74518181-T-C p.Met61Val missense+splice_region ANKRD31 1047 81280 0.0128814 40640 36 0.0286379
5-74518184-C-A c.179-1G>T splice_acceptor ANKRD31 1 81284 1.23025E-5 40642 0 NA
5-74526384-C-T c.178+3G>A splice_region ANKRD31 103 81530 0.00126334 40765 0 0.00105567
5-74526392-C-A p.Cys58Phe missense ANKRD31 1 81628 1.22507E-5 40814 0 NA
5-74526402-T-C p.Arg55Gly missense ANKRD31 1 81744 1.22333E-5 40872 0 NA
5-74526417-GA-G p.Leu50fs frameshift ANKRD31 1 81798 1.22252E-5 40899 0 3.18471E-5
5-74526421-G-A p.Phe48Phe synonymous ANKRD31 1 81818 1.22222E-5 40909 0 NA
5-74526436-A-G p.Ser43Ser synonymous ANKRD31 1 81794 1.22258E-5 40897 0 NA
5-74526442-G-A p.Asp41Asp synonymous ANKRD31 152 81762 0.00185905 40881 3 0.00603276
5-74526460-C-T p.Arg35Arg splice_region+synonymous ANKRD31 1 81618 1.22522E-5 40809 0 NA
5-74532403-G-C c.104+5C>G splice_region ANKRD31 1 80476 1.24261E-5 40238 0 NA
5-74532407-C-T c.104+1G>A splice_donor ANKRD31 1 80456 1.24292E-5 40228 0 3.18654E-5
5-74532408-C-T p.Arg35Lys missense+splice_region ANKRD31 3 80504 3.72652E-5 40252 0 1.05341E-4
5-74532419-C-A p.Leu31Leu synonymous ANKRD31 134 80566 0.00166323 40283 2 0.005
5-74532441-C-T p.Ser24Asn missense ANKRD31 1 80670 1.23962E-5 40335 0 5.10621E-5
5-74532446-C-A p.Thr22Thr synonymous ANKRD31 3 80744 3.71545E-5 40372 0 2.23044E-4
5-74532477-C-T p.Ser12Asn missense ANKRD31 1 81462 1.22757E-5 40731 0 8.98001E-5
5-74532485-G-A p.Asp9Asp synonymous ANKRD31 1 81618 1.22522E-5 40809 0 3.18654E-5
5-74532490-G-A p.Pro8Ser missense ANKRD31 1 81632 1.22501E-5 40816 0 NA
5-74532501-C-T p.Gly4Asp missense ANKRD31 2 81830 2.44409E-5 40915 0 6.9603E-6
5-74532595-A-C c.-84T>G 5_prime_UTR_premature_start_codon_gain ANKRD31 1 78454 1.27463E-5 39227 0 NA
5-74532621-T-C c.-110A>G 5_prime_UTR_premature_start_codon_gain ANKRD31 69 70628 9.7695E-4 35314 0 1.91742E-4
5-74532688-G-A c.-177C>T 5_prime_UTR_premature_start_codon_gain ANKRD31 1 49010 2.0404E-5 24505 0 NA
5-74532691-G-A c.-180C>T 5_prime_UTR_premature_start_codon_gain ANKRD31 2 48028 4.16424E-5 24014 0 NA