Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-113258554-A-T c.-53A>T 5_prime_UTR_premature_start_codon_gain ANKK1 1 43860 2.27998E-5 21930 0 2.23186E-4
11-113258593-G-T c.-14G>T 5_prime_UTR_premature_start_codon_gain ANKK1 1 52258 1.91358E-5 26129 0 NA
11-113258615-C-T p.Ala3Ala synonymous ANKK1 1 56750 1.76211E-5 28375 0 NA
11-113258616-G-T p.Asp4Tyr missense ANKK1 91 56998 0.00159655 28499 1 0.00570074
11-113258619-C-A p.Pro5Thr missense ANKK1 1 57656 1.73442E-5 28828 0 NA
11-113258620-C-T p.Pro5Leu missense ANKK1 1 57812 1.72974E-5 28906 0 NA
11-113258624-C-G p.Thr6Thr synonymous ANKK1 1 58356 1.71362E-5 29178 0 1.59297E-4
11-113258629-T-G p.Leu8Arg missense ANKK1 1 59070 1.69291E-5 29535 0 NA
11-113258631-C-G p.Arg9Gly missense ANKK1 2 59170 3.38009E-5 29585 0 NA
11-113258632-G-A p.Arg9Gln missense ANKK1 1 59340 1.6852E-5 29670 0 NA
11-113258637-G-A p.Gly11Ser missense ANKK1 1 59950 1.66806E-5 29975 0 4.38327E-5
11-113258645-C-A p.Leu13Leu synonymous ANKK1 1 60584 1.6506E-5 30292 0 4.08397E-5
11-113258648-C-T p.Pro14Pro synonymous ANKK1 1 60552 1.65147E-5 30276 0 4.05055E-5
11-113258654-C-T p.Phe16Phe synonymous ANKK1 1 60904 1.64193E-5 30452 0 3.92403E-5
11-113258657-C-A p.Thr17Thr synonymous ANKK1 1 61136 1.6357E-5 30568 0 3.18492E-5
11-113258657-C-T p.Thr17Thr synonymous ANKK1 2 61136 3.27139E-5 30568 0 6.25E-4
11-113258660-C-A p.Arg18Arg synonymous ANKK1 1 60852 1.64333E-5 30426 0 1.59215E-4
11-113258666-C-G p.Asp20Glu missense ANKK1 1 61180 1.63452E-5 30590 0 NA
11-113258675-C-A p.Gly23Gly synonymous ANKK1 1 60976 1.63999E-5 30488 0 3.18451E-5
11-113258678-C-A p.Asp24Glu missense ANKK1 1 61236 1.63303E-5 30618 0 6.25E-4
11-113258694-A-G p.Ser30Gly missense ANKK1 1 60780 1.64528E-5 30390 0 NA
11-113258717-C-CCAGGCGCGGCA p.Trp44fs frameshift ANKK1 1 58472 1.71022E-5 29236 0 NA
11-113258719-A-T p.Gln38Leu missense ANKK1 35 58186 6.01519E-4 29093 0 5.43774E-4
11-113258722-C-A p.Ala39Glu missense ANKK1 23 57434 4.0046E-4 28717 0 0.0030581
11-113258731-G-A p.Arg42Lys missense ANKK1 1 56586 1.76722E-5 28293 0 1.71338E-5
11-113258733-C-T p.Arg43Cys missense ANKK1 1 56008 1.78546E-5 28004 0 NA
11-113258734-G-T p.Arg43Leu missense ANKK1 2 55828 3.58243E-5 27914 0 NA
11-113258743-C-T p.Thr46Met missense ANKK1 2 54206 3.68963E-5 27103 0 9.5645E-5
11-113258762-C-G p.Cys52Trp missense ANKK1 401 51492 0.00778762 25746 9 0.0179973
11-113258767-C-G p.Pro54Arg missense ANKK1 1 51256 1.95099E-5 25628 0 NA
11-113258787-G-A p.Ala61Thr missense ANKK1 56 48018 0.00116623 24009 0 0.00677083
11-113258787-G-T p.Ala61Ser missense ANKK1 1 48018 2.08255E-5 24009 0 8.71688E-6
11-113264208-A-C p.Asp64Ala missense ANKK1 1 82532 1.21165E-5 41266 0 NA
11-113264210-G-T p.Val65Leu missense ANKK1 2 82564 2.42236E-5 41282 0 1.21269E-5
11-113264241-TGAA-T p.Lys77del disruptive_inframe_deletion ANKK1 3 82700 3.62757E-5 41350 0 3.18532E-5
11-113264244-A-G p.Lys76Arg missense ANKK1 26 82720 3.14313E-4 41360 0 2.86606E-4
11-113264259-A-G p.Gln81Arg missense ANKK1 1 82758 1.20834E-5 41379 0 NA
11-113264263-C-T p.His82His synonymous ANKK1 3 82754 3.6252E-5 41377 0 6.42302E-5
11-113264264-A-G p.Ile83Val missense ANKK1 2 82758 2.41668E-5 41379 0 NA
11-113264266-C-T p.Ile83Ile synonymous ANKK1 47 82748 5.6799E-4 41374 0 9.23743E-4
11-113264267-G-C p.Val84Leu missense ANKK1 16 82766 1.93316E-4 41383 0 3.50385E-4
11-113264272-T-C p.Ser85Ser synonymous ANKK1 50709 81952 0.618765 40976 15995 0.653125
11-113264277-A-G p.Tyr87Cys missense ANKK1 4 82792 4.83138E-5 41396 0 2.80872E-5
11-113264278-C-T p.Tyr87Tyr synonymous ANKK1 2 82798 2.41552E-5 41399 0 4.14442E-5
11-113264279-G-A p.Gly88Arg missense ANKK1 19 82802 2.29463E-4 41401 0 5.03525E-4
11-113264284-G-A p.Val89Val synonymous ANKK1 1 82800 1.20773E-5 41400 0 NA
11-113264294-C-T p.Pro93Ser missense ANKK1 2 82820 2.41488E-5 41410 0 6.36983E-5
11-113264301-G-A p.Gly95Asp missense ANKK1 4 82810 4.83033E-5 41405 0 3.33077E-4
11-113264321-G-C p.Ala102Pro missense ANKK1 2 82806 2.41528E-5 41403 0 6.37024E-5
11-113264327-G-A p.Gly104Ser missense ANKK1 3 82792 3.62354E-5 41396 0 0.00100705
11-113264338-G-C p.Glu107Asp missense ANKK1 17 82772 2.05383E-4 41386 0 0.00100705
11-113264338-G-A p.Glu107Glu synonymous ANKK1 14 82774 1.69135E-4 41387 0 1.20514E-4
11-113264341-G-A p.Lys108Lys synonymous ANKK1 1 82770 1.20817E-5 41385 0 NA
11-113264342-G-A p.Val109Met missense ANKK1 1 82768 1.2082E-5 41384 0 8.0349E-6
11-113264350-C-T p.Ser111Ser synonymous ANKK1 1 82754 1.2084E-5 41377 0 NA
11-113264367-G-A p.Trp117* stop_gained ANKK1 1 82744 1.20855E-5 41372 0 4.01703E-6
11-113264368-G-T p.Trp117Cys missense ANKK1 1 82740 1.20861E-5 41370 0 2.49621E-5
11-113264377-G-A p.Arg120Arg synonymous ANKK1 9 82708 1.08817E-4 41354 0 5.62123E-5
11-113264377-G-T p.Arg120Ser missense ANKK1 1 82708 1.20907E-5 41354 0 8.31712E-6
11-113264382-G-A p.Arg122His missense ANKK1 961 82686 0.0116223 41343 6 0.0175
11-113264382-G-T p.Arg122Leu missense ANKK1 8 82700 9.67352E-5 41350 0 2.49792E-5
11-113264387-A-G p.Ile124Val missense ANKK1 2 82702 2.41832E-5 41351 0 NA
11-113264391-A-G p.His125Arg missense ANKK1 2 82708 2.41815E-5 41354 0 5.03525E-4
11-113264397-C-G p.Thr127Ser missense ANKK1 1 82686 1.20939E-5 41343 0 NA
11-113264402-T-A p.Leu129Met missense ANKK1 1 82674 1.20957E-5 41337 0 NA
11-113264420-C-A p.His135Asn missense ANKK1 1 82624 1.2103E-5 41312 0 NA
11-113264421-A-C p.His135Pro missense ANKK1 8 82620 9.68289E-5 41310 0 5.03525E-4
11-113264424-G-A p.Ser136Asn missense ANKK1 1 82610 1.21051E-5 41305 0 8.29724E-6
11-113264433-C-T p.Pro139Leu missense ANKK1 2 82608 2.42107E-5 41304 0 1.65945E-5
11-113264434-G-A p.Pro139Pro synonymous ANKK1 2 82596 2.42142E-5 41298 0 6.25E-4
11-113264440-G-A p.Leu141Leu synonymous ANKK1 1 82546 1.21145E-5 41273 0 NA
11-113264445-A-G p.His143Arg missense ANKK1 1 82522 1.2118E-5 41261 0 NA
11-113264455-C-T p.Leu146Leu synonymous ANKK1 1 82496 1.21218E-5 41248 0 NA
11-113264460-C-T p.Pro148Leu missense ANKK1 17 82434 2.06226E-4 41217 0 1.27413E-4
11-113264461-G-C p.Pro148Pro synonymous ANKK1 1 82392 1.21371E-5 41196 0 1.2158E-5
11-113264461-G-A p.Pro148Pro synonymous ANKK1 1 82392 1.21371E-5 41196 0 4.86318E-5
11-113264463-G-A p.Gly149Asp missense ANKK1 1 82380 1.21389E-5 41190 0 8.1082E-6
11-113264467-C-T p.Asn150Asn synonymous ANKK1 118 82410 0.00143187 41205 2 0.00288471
11-113264470-A-C p.Ile151Ile synonymous ANKK1 50017 76752 0.65167 38376 16148 0.694207
11-113264473-C-T p.Leu152Leu synonymous ANKK1 5 82378 6.06958E-5 41189 0 8.41822E-5
11-113264475-T-A p.Leu153Gln missense ANKK1 1 82352 1.2143E-5 41176 0 9.55718E-5
11-113264476-G-A p.Leu153Leu synonymous ANKK1 1 82362 1.21415E-5 41181 0 NA
11-113264484-A-G p.Asn156Ser missense ANKK1 1 82302 1.21504E-5 41151 0 4.12681E-6
11-113264492-G-A p.Val159Ile missense ANKK1 2 82220 2.4325E-5 41110 0 2.55041E-5
11-113264495-A-T p.Lys160* stop_gained ANKK1 2 82202 2.43303E-5 41101 0 4.1971E-6
11-113265454-A-G p.Lys49Arg missense ANKK1 17 36448 4.66418E-4 18224 0 0.0025
11-113265503-T-C c.*33T>C splice_region ANKK1 6 63476 9.45239E-5 31738 0 3.0349E-4
11-113265505-G-C c.*34+1G>C splice_donor ANKK1 1 64222 1.5571E-5 32111 0 NA
11-113265647-C-T c.481-4C>T splice_region ANKK1 1 82286 1.21527E-5 41143 0 6.36862E-5
11-113265649-A-T c.481-2A>T splice_acceptor ANKK1 2 82298 2.43019E-5 41149 0 0.001875
11-113265657-G-A p.Asp163Asn missense ANKK1 1 82348 1.21436E-5 41174 0 NA
11-113265659-C-G p.Asp163Glu missense ANKK1 1 82376 1.21395E-5 41188 0 NA
11-113265663-G-A p.Gly165Ser missense ANKK1 2 82410 2.42689E-5 41205 0 3.18532E-5
11-113265666-CT-TG p.Leu166Trp missense ANKK1 1 82440 1.213E-5 41220 0 NA
11-113265667-T-G p.Leu166Arg missense ANKK1 32 82438 3.88171E-4 41219 0 0.00125
11-113265679-T-C p.Met170Thr missense ANKK1 1 82508 1.212E-5 41254 0 NA
11-113265684-C-T p.Gln172* stop_gained ANKK1 1 82516 1.21189E-5 41258 0 8.06588E-6
11-113265693-C-T p.Arg175Trp missense ANKK1 5 82544 6.05738E-5 41272 0 6.25E-4
11-113265694-G-A p.Arg175Gln missense ANKK1 5 82536 6.05796E-5 41268 0 6.44735E-5
11-113265707-CG-C p.Glu180fs frameshift ANKK1 1 82602 1.21062E-5 41301 0 NA
11-113265707-C-T p.Ile179Ile synonymous ANKK1 1 82602 1.21062E-5 41301 0 2.41772E-5
11-113265710-G-T p.Glu180Asp missense ANKK1 1 82626 1.21027E-5 41313 0 NA
11-113265716-G-A p.Ser182Ser synonymous ANKK1 103 82640 0.00124637 41320 0 0.00213403
11-113265723-C-T p.Arg185Trp missense ANKK1 4 82654 4.83945E-5 41327 0 6.37064E-5
11-113265724-G-A p.Arg185Gln missense ANKK1 1116 82646 0.0135034 41323 53 0.0305212
11-113265727-G-A p.Gly186Asp missense ANKK1 2 82662 2.41949E-5 41331 0 3.18532E-5
11-113265728-CAT-C p.Met187fs frameshift ANKK1 1 82668 1.20966E-5 41334 0 NA
11-113265733-T-C p.Leu188Pro missense ANKK1 1 82692 1.20931E-5 41346 0 NA
11-113265742-T-TC p.Glu194fs frameshift ANKK1 1 82700 1.20919E-5 41350 0 NA
11-113265743-C-A p.Ile191Ile synonymous ANKK1 1 82706 1.2091E-5 41353 0 NA
11-113265747-C-T p.Pro193Ser missense ANKK1 1 82716 1.20896E-5 41358 0 NA
11-113265747-C-G p.Pro193Ala missense ANKK1 1 82716 1.20896E-5 41358 0 3.18492E-5
11-113265748-CT-C p.Glu194fs frameshift ANKK1 2 82708 2.41815E-5 41354 0 3.18532E-5
11-113265759-C-T p.Leu197Leu synonymous ANKK1 1 82690 1.20934E-5 41345 0 3.18593E-5
11-113265792-G-T p.Asp208Tyr missense ANKK1 10 82596 1.21071E-4 41298 0 4.14345E-5
11-113265797-G-T p.Val209Val synonymous ANKK1 8 82548 9.69133E-5 41274 0 5.03525E-4
11-113266080-G-T c.633-1G>T splice_acceptor ANKK1 257 82432 0.00311772 41216 2 0.00716972
11-113266089-T-C p.Ile214Thr missense ANKK1 2 82426 2.42642E-5 41213 0 4.0122E-6
11-113266093-C-T p.Val215Val synonymous ANKK1 4 82436 4.85225E-5 41218 0 6.37267E-5
11-113266113-A-C p.Gln222Pro missense ANKK1 1 82406 1.2135E-5 41203 0 4.01271E-6
11-113266126-C-T p.Tyr226Tyr synonymous ANKK1 2 82346 2.42878E-5 41173 0 NA
11-113266126-C-A p.Tyr226* stop_gained ANKK1 2 82346 2.42878E-5 41173 0 1.67701E-5
11-113266129-A-G p.Ser227Ser splice_region+synonymous ANKK1 2 82298 2.43019E-5 41149 0 8.39616E-6
11-113266136-C-T c.682+6C>T splice_region ANKK1 1 82206 1.21646E-5 41103 0 8.42645E-6
11-113266789-G-A p.Gly228Glu missense+splice_region ANKK1 1 82612 1.21048E-5 41306 0 8.34321E-6
11-113266795-A-C p.Asn230Thr missense ANKK1 5 82624 6.05151E-5 41312 0 6.42338E-5
11-113266796-C-T p.Asn230Asn synonymous ANKK1 1 82624 1.2103E-5 41312 0 NA
11-113266799-G-A p.Met231Ile missense ANKK1 4 82628 4.84097E-5 41314 0 5.61947E-5
11-113266802-G-A p.Met232Ile missense ANKK1 2 82640 2.42014E-5 41320 0 2.40805E-5
11-113266808-T-G p.Ile234Met missense ANKK1 2 82630 2.42043E-5 41315 0 8.29834E-6
11-113266815-C-T p.Arg237* stop_gained ANKK1 44 82614 5.32597E-4 41307 0 6.69045E-4
11-113266816-G-A p.Arg237Gln missense ANKK1 26 82622 3.14686E-4 41311 0 1.59276E-4
11-113266821-G-A p.Ala239Thr missense ANKK1 17471 82356 0.21214 41178 2139 0.253496
11-113266821-GC-AT p.Ala239Met missense ANKK1 125 82604 0.00151324 41302 1 NA
11-113266822-C-T p.Ala239Val missense ANKK1 83 82604 0.00100479 41302 3 0.00480953
11-113266831-T-C p.Met242Thr missense ANKK1 2 82528 2.42342E-5 41264 0 4.01313E-6
11-113266832-G-A p.Met242Ile missense ANKK1 4 82530 4.84672E-5 41265 1 NA
11-113266833-C-T p.Arg243Trp missense ANKK1 2 82528 2.42342E-5 41264 0 4.81668E-5
11-113266861-A-C p.Gln252Pro missense ANKK1 1 82572 1.21106E-5 41286 0 NA
11-113266863-T-C p.Trp253Arg missense ANKK1 196 82582 0.0023734 41291 0 0.00224494
11-113266867-C-T p.Pro254Leu missense ANKK1 1 82594 1.21074E-5 41297 0 4.01155E-6
11-113266872-G-A p.Glu256Lys missense ANKK1 1 82572 1.21106E-5 41286 0 4.14147E-5
11-113266877-C-T p.Ala257Ala synonymous ANKK1 1 82556 1.2113E-5 41278 0 NA
11-113266891-A-G p.Asp262Gly missense ANKK1 3 82538 3.63469E-5 41269 0 8.28322E-6
11-113266896-A-G p.Met264Val missense ANKK1 2 82548 2.42283E-5 41274 0 NA
11-113266897-T-A p.Met264Lys missense ANKK1 1 82542 1.2115E-5 41271 0 8.28336E-6
11-113266902-C-T p.Arg266Cys missense ANKK1 1 82532 1.21165E-5 41266 0 1.2751E-4
11-113266913-C-G p.Asp269Glu missense ANKK1 2 82478 2.42489E-5 41239 0 8.02446E-6
11-113266927-A-G p.Lys274Arg missense ANKK1 1 82416 1.21336E-5 41208 0 NA
11-113266928-G-A p.Lys274Lys synonymous ANKK1 3 82424 3.63972E-5 41212 0 5.03525E-4
11-113266929-A-T p.Arg275Trp missense ANKK1 1 82422 1.21327E-5 41211 0 NA
11-113266930-G-A p.Arg275Lys missense ANKK1 5 82418 6.06664E-5 41209 0 1.90875E-4
11-113266931-G-T p.Arg275Ser missense ANKK1 1 82378 1.21392E-5 41189 0 NA
11-113266933-C-T p.Pro276Leu missense ANKK1 221 82368 0.00268308 41184 2 0.00624522
11-113266948-C-T c.838+4C>T splice_region ANKK1 1 82116 1.21779E-5 41058 0 NA
11-113266949-T-C c.838+5T>C splice_region ANKK1 1 82110 1.21788E-5 41055 0 4.02427E-6
11-113267942-G-A c.839-4G>A splice_region ANKK1 3 82138 3.65239E-5 41069 0 1.73361E-5
11-113267945-GA-G p.Asp280fs frameshift ANKK1 1 82186 1.21675E-5 41093 0 3.1839E-5
11-113267947-C-A p.Asp280Glu missense+splice_region ANKK1 255 82204 0.00310204 41102 0 0.00321636
11-113267957-G-A p.Glu284Lys missense ANKK1 55 82300 6.68287E-4 41150 0 7.07535E-4
11-113267969-C-T p.Leu288Leu synonymous ANKK1 2 82342 2.42889E-5 41171 0 NA
11-113267974-G-T p.Leu289Leu synonymous ANKK1 1 82358 1.21421E-5 41179 0 8.33959E-6
11-113267983-G-T p.Leu292Leu synonymous ANKK1 1 82324 1.21471E-5 41162 0 NA
11-113267985-A-G p.Gln293Arg missense ANKK1 8 82332 9.71676E-5 41166 0 1.61628E-5
11-113267990-C-T p.Arg295Cys missense ANKK1 1 82318 1.2148E-5 41159 0 3.32674E-5
11-113267991-G-T p.Arg295Leu missense ANKK1 95 82314 0.00115412 41157 0 0.00375
11-113267991-G-A p.Arg295His missense ANKK1 5 82318 6.07401E-5 41159 0 4.15766E-5
11-113268007-G-A p.Glu300Glu synonymous ANKK1 1 82306 1.21498E-5 41153 0 NA
11-113268031-G-A p.Val308Val synonymous ANKK1 2 82244 2.43179E-5 41122 0 NA
11-113268033-C-T p.Ser309Phe missense ANKK1 1 82236 1.21601E-5 41118 0 NA
11-113268039-A-G p.Lys311Arg missense ANKK1 1 82210 1.2164E-5 41105 0 NA
11-113268041-C-T p.Leu312Leu synonymous ANKK1 1 82196 1.2166E-5 41098 0 8.05919E-6
11-113268046-G-A p.Ser313Ser synonymous ANKK1 6 82120 7.30638E-5 41060 0 1.21013E-5
11-113268047-C-A p.Leu314Met missense ANKK1 2 82106 2.43588E-5 41053 0 3.18695E-5
11-113268050-C-T p.Arg315Cys missense ANKK1 105 82056 0.00127961 41028 2 0.00296386
11-113268051-G-T p.Arg315Leu missense ANKK1 1 82038 1.21895E-5 41019 0 1.67954E-5
11-113268051-G-A p.Arg315His missense ANKK1 3 82038 3.65684E-5 41019 0 1.0917E-4
11-113268051-GC-TT p.Arg315Leu missense ANKK1 8 82038 9.75158E-5 41019 0 NA
11-113268058-C-T p.Pro317Pro synonymous ANKK1 2 81956 2.44033E-5 40978 0 8.08414E-6
11-113268059-G-A p.Gly318Arg missense ANKK1 33999 80426 0.422736 40213 8017 0.4575
11-113268059-G-T p.Gly318Trp missense ANKK1 8 81900 9.76801E-5 40950 0 2.87705E-4
11-113268068-A-AGT c.957+4_957+5insGT splice_region ANKK1 2 81686 2.4484E-5 40843 0 2.02828E-5
11-113268712-A-T p.Asp323Val missense ANKK1 1 81368 1.22898E-5 40684 0 NA
11-113268731-G-A p.Met329Ile missense ANKK1 1 81368 1.22898E-5 40684 0 5.66624E-6
11-113268734-C-T p.Asp330Asp synonymous ANKK1 4 81364 4.91618E-5 40682 0 6.37552E-5
11-113269679-C-G c.995-7C>G splice_region ANKK1 376 82396 0.00456333 41198 4 0.0106295
11-113269682-G-A c.995-4G>A splice_region ANKK1 15 82408 1.82021E-4 41204 0 3.51309E-4
11-113269692-G-A p.Gly334Glu missense ANKK1 2 82448 2.42577E-5 41224 0 5.2547E-6
11-113269706-C-T p.Arg339Trp missense ANKK1 3 82464 3.63795E-5 41232 0 2.23385E-4
11-113269707-G-A p.Arg339Gln missense ANKK1 1 82464 1.21265E-5 41232 0 6.25E-4
11-113269718-C-T p.Leu343Phe missense ANKK1 2 82480 2.42483E-5 41240 0 8.26811E-5
11-113269719-TC-AA p.Leu343Gln missense ANKK1 8 82482 9.69909E-5 41241 0 NA
11-113269719-T-A p.Leu343His missense ANKK1 1 82482 1.21239E-5 41241 0 6.38978E-5
11-113269720-C-A p.Leu343Leu synonymous ANKK1 1 82482 1.21239E-5 41241 0 6.37999E-5
11-113269723-C-T p.Ser344Ser synonymous ANKK1 9 82472 1.09128E-4 41236 0 4.15584E-4
11-113269724-G-A p.Asp345Asn missense ANKK1 64 82480 7.75946E-4 41240 0 0.00154056
11-113269727-C-T p.Arg346Cys missense ANKK1 1 82496 1.21218E-5 41248 0 2.39086E-5
11-113269728-G-A p.Arg346His missense ANKK1 1 82498 1.21215E-5 41249 0 2.35549E-5
11-113269729-T-A p.Arg346Arg synonymous ANKK1 1 82494 1.21221E-5 41247 0 NA
11-113269736-T-G p.Leu349Val missense ANKK1 1 82498 1.21215E-5 41249 0 NA
11-113269736-T-C p.Leu349Leu synonymous ANKK1 2 82498 2.4243E-5 41249 0 2.15955E-5
11-113269738-G-C p.Leu349Phe missense ANKK1 1 82500 1.21212E-5 41250 0 NA
11-113269741-C-T p.Val350Val synonymous ANKK1 14 82494 1.69709E-4 41247 0 1.46572E-4
11-113269742-C-T p.Pro351Ser missense ANKK1 30 82482 3.63716E-4 41241 0 6.3804E-4
11-113269743-C-T p.Pro351Leu missense ANKK1 2 82492 2.42448E-5 41246 0 4.12133E-5
11-113269744-G-A p.Pro351Pro synonymous ANKK1 2 82494 2.42442E-5 41247 0 6.11222E-5
11-113269747-A-G p.Arg352Arg synonymous ANKK1 1 82482 1.21239E-5 41241 0 NA
11-113269750-T-G p.Asp353Glu missense ANKK1 1 82484 1.21236E-5 41242 0 NA
11-113269753-G-A p.Glu354Glu synonymous ANKK1 1 82484 1.21236E-5 41242 0 4.3364E-6
11-113269757-C-T p.Leu356Leu synonymous ANKK1 1 82474 1.2125E-5 41237 0 4.32893E-6
11-113269759-G-A p.Leu356Leu synonymous ANKK1 1 82476 1.21247E-5 41238 0 NA
11-113269765-C-T p.Ile358Ile synonymous ANKK1 2 82460 2.42542E-5 41230 0 1.82662E-5
11-113269771-G-C p.Glu360Asp missense ANKK1 1 82436 1.21306E-5 41218 0 NA
11-113269781-AC-A p.Leu366fs frameshift ANKK1 2 82364 2.42825E-5 41182 0 1.7484E-5
11-113269787-C-T p.Leu366Phe missense ANKK1 6 82386 7.28279E-5 41193 0 2.86807E-4
11-113269789-C-T p.Leu366Leu synonymous ANKK1 1 82392 1.21371E-5 41196 0 4.33313E-6
11-113269792-C-A p.His367Gln missense ANKK1 1742 82370 0.0211485 41185 26 0.0367406
11-113269796-C-G p.Leu369Val missense ANKK1 1 82390 1.21374E-5 41195 0 1.74192E-5
11-113269800-T-A p.Val370Glu missense ANKK1 1 82386 1.2138E-5 41193 0 NA
11-113269808-G-A p.Gly373Ser missense ANKK1 1 82334 1.21457E-5 41167 0 NA
11-113269811-A-C p.Ser374Arg missense ANKK1 1 82328 1.21465E-5 41164 0 NA
11-113269817-G-A p.Glu376Lys missense ANKK1 190 82318 0.00230812 41159 2 0.00337924
11-113269817-G-C p.Glu376Gln missense ANKK1 1 82318 1.2148E-5 41159 0 NA
11-113269823-G-A p.Val378Met missense ANKK1 1 82310 1.21492E-5 41155 0 NA
11-113269843-C-T p.His384His synonymous ANKK1 1 82198 1.21657E-5 41099 0 5.57621E-5
11-113269844-G-A p.Glu385Lys missense ANKK1 2 82192 2.43333E-5 41096 0 5.55638E-5
11-113269852-C-T p.Asp387Asp synonymous ANKK1 336 82150 0.00409008 41075 5 0.00723621
11-113269853-G-A p.Val388Met missense ANKK1 2 82142 2.43481E-5 41071 0 1.38771E-5
11-113269855-G-A p.Val388Val synonymous ANKK1 1 82138 1.21746E-5 41069 0 4.61574E-6
11-113269859-T-G p.Cys390Gly missense ANKK1 2 82122 2.4354E-5 41061 0 4.61391E-6
11-113269866-C-T p.Thr392Met missense ANKK1 2 82052 2.43748E-5 41026 0 0.00100705
11-113269867-G-A p.Thr392Thr synonymous ANKK1 1 82020 1.21921E-5 41010 0 1.7974E-5
11-113269870-C-T p.Ala393Ala synonymous ANKK1 2 82008 2.43879E-5 41004 0 5.34359E-5
11-113269879-C-T p.Tyr396Tyr synonymous ANKK1 7 81960 8.54075E-5 40980 0 0.00151057
11-113269881-C-T p.Thr397Met missense ANKK1 1 81932 1.22052E-5 40966 0 3.18756E-5
11-113269885-C-T p.Pro398Pro synonymous ANKK1 3 81864 3.66461E-5 40932 0 4.52591E-6
11-113269894-C-T p.Ile401Ile synonymous ANKK1 1 81774 1.22288E-5 40887 0 1.80431E-5
11-113269898-G-A p.Ala403Thr missense ANKK1 3 81708 3.67161E-5 40854 0 0.00151057
11-113269898-G-T p.Ala403Ser missense ANKK1 1 81710 1.22384E-5 40855 0 NA
11-113269905-A-G p.Asp405Gly missense ANKK1 4 81692 4.89644E-5 40846 0 1.6038E-5
11-113269907-C-G p.Gln406Glu missense ANKK1 2 81698 2.44804E-5 40849 0 4.55659E-4
11-113269909-G-A p.Gln406Gln synonymous ANKK1 1 81678 1.22432E-5 40839 0 NA
11-113269918-C-A p.Asp409Glu missense ANKK1 1 81606 1.2254E-5 40803 0 NA
11-113269926-C-T p.Ala412Val missense ANKK1 1 81578 1.22582E-5 40789 0 NA
11-113269957-C-G p.Asn422Lys missense ANKK1 1 81538 1.22642E-5 40769 0 6.36983E-5
11-113269958-C-T p.Arg423* stop_gained ANKK1 2 81510 2.45369E-5 40755 0 6.51245E-5
11-113269959-G-A p.Arg423Gln missense ANKK1 1 81518 1.22672E-5 40759 0 1.42498E-4
11-113269967-G-A p.Glu426Lys missense ANKK1 4 81504 4.90773E-5 40752 0 0.001875
11-113269970-G-A p.Asp427Asn missense ANKK1 2 81514 2.45357E-5 40757 0 9.55475E-5
11-113269974-G-C p.Gly428Ala missense ANKK1 1 81450 1.22775E-5 40725 0 NA
11-113269975-C-T p.Gly428Gly synonymous ANKK1 2 81450 2.45549E-5 40725 0 3.8018E-5
11-113270001-A-T p.Gln437Leu missense ANKK1 2 81494 2.45417E-5 40747 0 NA
11-113270010-A-ACAGAAGAGCAGGGGGATGATGT p.Asp441fs frameshift ANKK1 1 81508 1.22687E-5 40754 0 NA
11-113270015-G-C p.Gly442Arg missense ANKK1 51957 80846 0.642666 40423 17115 0.662537
11-113270015-G-T p.Gly442Cys missense ANKK1 321 81432 0.00394194 40716 5 0.00723327
11-113270015-G-A p.Gly442Ser missense ANKK1 2 81438 2.45586E-5 40719 0 0.00543478
11-113270024-C-T p.Arg445Cys missense ANKK1 641 81432 0.0078716 40716 17 0.0166879
11-113270025-G-A p.Arg445His missense ANKK1 1 81456 1.22766E-5 40728 0 0.00100705
11-113270032-C-T p.Leu447Leu synonymous ANKK1 2 81510 2.45369E-5 40755 0 4.4256E-6
11-113270041-C-T p.His450His synonymous ANKK1 37 81484 4.54077E-4 40742 0 2.86588E-4
11-113270042-G-A p.Gly451Arg missense ANKK1 1451 81470 0.0178102 40735 14 0.0272544
11-113270051-G-T p.Val454Leu missense ANKK1 1 81548 1.22627E-5 40774 0 NA
11-113270064-A-G p.Glu458Gly missense ANKK1 26 81362 3.1956E-4 40681 0 0.00127405
11-113270066-C-T p.Arg459Cys missense ANKK1 7 81336 8.60628E-5 40668 0 6.37024E-5
11-113270067-G-A p.Arg459His missense ANKK1 3 81328 3.68877E-5 40664 0 6.25E-4
11-113270067-G-C p.Arg459Pro missense ANKK1 3 81328 3.68877E-5 40664 0 3.18431E-5
11-113270078-A-T p.Thr463Ser missense ANKK1 1 81112 1.23286E-5 40556 0 4.45923E-6
11-113270081-C-T p.Pro464Ser missense ANKK1 1 81070 1.2335E-5 40535 0 1.43538E-5
11-113270089-C-T p.His466His synonymous ANKK1 1 81026 1.23417E-5 40513 0 NA
11-113270093-G-C p.Ala468Pro missense ANKK1 1 80962 1.23515E-5 40481 0 NA
11-113270099-C-A p.Gln470Lys missense ANKK1 1 80922 1.23576E-5 40461 0 NA
11-113270101-G-T p.Gln470His missense ANKK1 1 80932 1.23561E-5 40466 0 1.45188E-5
11-113270107-CTT-C p.Phe473fs frameshift ANKK1 2 80840 2.47402E-5 40420 0 1.45155E-5
11-113270108-T-C p.Phe473Leu missense ANKK1 2 80818 2.4747E-5 40409 0 NA
11-113270113-G-C p.Glu474Asp missense ANKK1 2 80764 2.47635E-5 40382 0 NA
11-113270124-G-A p.Arg478Gln missense ANKK1 64 80616 7.93887E-4 40308 2 0.00625
11-113270137-C-A p.Ser482Ser synonymous ANKK1 2 80538 2.4833E-5 40269 0 NA
11-113270138-C-T p.Arg483Cys missense ANKK1 2 80548 2.48299E-5 40274 0 7.34862E-5
11-113270139-G-A p.Arg483His missense ANKK1 5 80532 6.20871E-5 40266 0 6.37105E-5
11-113270154-A-G p.Asn488Ser missense ANKK1 1 80576 1.24106E-5 40288 0 NA
11-113270155-C-A p.Asn488Lys missense ANKK1 1 80582 1.24097E-5 40291 0 NA
11-113270160-A-G p.His490Arg missense ANKK1 34702 79954 0.434025 39977 8345 0.46125
11-113270165-G-A p.Ala492Thr missense ANKK1 2 80676 2.47905E-5 40338 0 3.18613E-5
11-113270177-A-AC p.Leu498fs frameshift ANKK1 4 80734 4.95454E-5 40367 0 3.19509E-5
11-113270177-AC-A p.Leu498fs frameshift ANKK1 1 80734 1.23864E-5 40367 0 0.00100705
11-113270178-C-A p.Thr496Asn missense ANKK1 65 80764 8.04814E-4 40382 2 0.00625
11-113270178-C-T p.Thr496Ile missense ANKK1 1 80768 1.23811E-5 40384 0 9.25352E-6
11-113270179-C-T p.Thr496Thr synonymous ANKK1 4 80798 4.95062E-5 40399 0 1.93392E-4
11-113270181-C-T p.Pro497Leu missense ANKK1 1 80838 1.23704E-5 40419 0 NA
11-113270193-C-T p.Ala501Val missense ANKK1 2 80974 2.46993E-5 40487 0 9.42045E-6
11-113270194-C-G p.Ala501Ala synonymous ANKK1 1 80992 1.23469E-5 40496 0 NA
11-113270194-C-T p.Ala501Ala synonymous ANKK1 2 80992 2.46938E-5 40496 0 3.3418E-5
11-113270195-G-A p.Ala502Thr missense ANKK1 14 81030 1.72776E-4 40515 0 0.00100705
11-113270198-T-G p.Tyr503Asp missense ANKK1 1 81164 1.23207E-5 40582 0 NA
11-113270218-G-A p.Leu509Leu synonymous ANKK1 1 81498 1.22702E-5 40749 0 4.69497E-6
11-113270232-C-T p.Thr514Ile missense ANKK1 1 81696 1.22405E-5 40848 0 NA
11-113270235-G-T p.Ser515Ile missense ANKK1 6 81724 7.34178E-5 40862 0 0.00151362
11-113270235-GC-G p.Gln516fs frameshift ANKK1 2 81724 2.44726E-5 40862 0 NA
11-113270236-C-T p.Ser515Ser synonymous ANKK1 2 81694 2.44816E-5 40847 0 1.67611E-5
11-113270238-AG-A p.Ala518fs frameshift ANKK1 1 81768 1.22297E-5 40884 0 4.59935E-6
11-113270239-G-T p.Gln516His missense ANKK1 2 81788 2.44535E-5 40894 0 1.83594E-5
11-113270239-G-C p.Gln516His missense ANKK1 1 81788 1.22267E-5 40894 0 1.16838E-4
11-113270241-G-A p.Gly517Glu missense ANKK1 1 81806 1.2224E-5 40903 0 4.61242E-6
11-113270260-G-C p.Gln523His missense ANKK1 15 81836 1.83293E-4 40918 0 1.43321E-4
11-113270269-C-G p.Asn526Lys missense ANKK1 2 81920 2.44141E-5 40960 0 1.5528E-5
11-113270279-C-T p.Pro530Ser missense ANKK1 1 81904 1.22094E-5 40952 0 NA
11-113270282-C-T p.Leu531Leu synonymous ANKK1 2 81924 2.44129E-5 40962 0 NA
11-113270292-C-T p.Ala534Val missense ANKK1 1 81926 1.22061E-5 40963 0 NA
11-113270300-C-A p.Arg537Arg synonymous ANKK1 4 81890 4.8846E-5 40945 0 4.29E-6
11-113270301-G-A p.Arg537Gln missense ANKK1 2 81906 2.44182E-5 40953 0 5.03525E-4
11-113270304-G-A p.Gly538Asp missense ANKK1 1 81898 1.22103E-5 40949 0 1.35962E-5
11-113270306-A-G p.Lys539Glu missense ANKK1 1 81900 1.221E-5 40950 0 NA
11-113270311-G-A p.Val540Val synonymous ANKK1 2 81902 2.44194E-5 40951 0 NA
11-113270316-C-T p.Ala542Val missense ANKK1 3 81884 3.66372E-5 40942 0 NA
11-113270319-T-A p.Ile543Asn missense ANKK1 1 81904 1.22094E-5 40952 0 1.29366E-5
11-113270321-C-T p.Gln544* stop_gained ANKK1 1 81880 1.2213E-5 40940 0 3.85693E-5
11-113270343-C-T p.Ala551Val missense ANKK1 3 81670 3.67332E-5 40835 0 4.94364E-5
11-113270344-G-A p.Ala551Ala synonymous ANKK1 78 81656 9.55227E-4 40828 0 0.00191144
11-113270365-G-A p.Gln558Gln synonymous ANKK1 1 81464 1.22754E-5 40732 0 NA
11-113270368-C-T p.Ser559Ser synonymous ANKK1 215 81344 0.0026431 40672 1 0.00643681
11-113270369-G-A p.Gly560Ser missense ANKK1 22 81330 2.70503E-4 40665 0 6.93929E-4
11-113270374-C-T p.Tyr561Tyr synonymous ANKK1 63264 80588 0.78503 40294 25106 0.822163
11-113270382-T-C p.Leu564Pro missense ANKK1 1 81082 1.23332E-5 40541 0 NA
11-113270387-A-G p.Thr566Ala missense ANKK1 6 81000 7.40741E-5 40500 0 6.37308E-5
11-113270404-C-A p.Gly571Gly synonymous ANKK1 1 80682 1.23943E-5 40341 0 6.36983E-5
11-113270410-C-A p.Tyr573* stop_gained ANKK1 1 80684 1.2394E-5 40342 0 NA
11-113270410-C-G p.Tyr573* stop_gained ANKK1 1 80684 1.2394E-5 40342 0 1.418E-5
11-113270411-C-G p.Leu574Val missense ANKK1 1 80686 1.23937E-5 40343 0 NA
11-113270425-G-C p.Met578Ile missense ANKK1 1 80632 1.2402E-5 40316 0 1.8151E-5
11-113270433-G-C p.Arg581Thr missense ANKK1 3 80648 3.71987E-5 40324 0 1.46387E-5
11-113270434-G-A p.Arg581Arg synonymous ANKK1 4 80640 4.96032E-5 40320 0 4.38097E-5
11-113270437-C-T p.Tyr582Tyr synonymous ANKK1 8 80586 9.92728E-5 40293 0 0.0020141
11-113270438-G-A p.Gly583Arg missense ANKK1 11 80578 1.36514E-4 40289 0 1.9118E-4
11-113270450-G-T p.Glu587* stop_gained ANKK1 212 80650 0.00262864 40325 1 0.00646744
11-113270458-C-T p.Pro589Pro synonymous ANKK1 1 80694 1.23925E-5 40347 0 NA
11-113270475-C-T p.Thr595Ile missense ANKK1 177 80764 0.00219157 40382 2 0.00343971
11-113270478-C-T p.Pro596Leu missense ANKK1 304 80804 0.00376219 40402 3 0.00531915
11-113270493-C-G p.Ala601Gly missense ANKK1 2 80888 2.47255E-5 40444 0 NA
11-113270499-AG-A p.Gly604fs frameshift ANKK1 1 80872 1.23652E-5 40436 0 NA
11-113270500-G-T p.Lys603Asn missense ANKK1 3 80858 3.71021E-5 40429 0 6.55571E-5
11-113270523-T-C p.Leu611Pro missense ANKK1 3 80784 3.71361E-5 40392 0 1.74345E-5
11-113270539-C-T p.His616His synonymous ANKK1 1 80732 1.23867E-5 40366 0 1.27413E-4
11-113270546-A-T p.Met619Leu missense ANKK1 2 80762 2.47641E-5 40381 0 NA
11-113270550-G-A p.Gly620Asp missense ANKK1 1 80704 1.2391E-5 40352 0 NA
11-113270555-C-T p.Leu622Phe missense ANKK1 6 80690 7.43587E-5 40345 0 0.00100705
11-113270556-T-C p.Leu622Pro missense ANKK1 2 80700 2.47831E-5 40350 0 8.23065E-5
11-113270574-C-A p.Thr628Asn missense ANKK1 1 80716 1.23891E-5 40358 0 NA
11-113270594-C-T p.Arg635Cys missense ANKK1 1 80830 1.23716E-5 40415 0 1.19911E-4
11-113270595-G-A p.Arg635His missense ANKK1 22 80852 2.72102E-4 40426 0 2.23086E-4
11-113270596-C-T p.Arg635Arg synonymous ANKK1 1 80854 1.2368E-5 40427 0 NA
11-113270598-A-C p.His636Pro missense ANKK1 3 80898 3.70837E-5 40449 0 1.2747E-4
11-113270599-CG-C p.Glu638fs frameshift ANKK1 14 80890 1.73075E-4 40445 0 9.5584E-5
11-113270599-C-T p.His636His synonymous ANKK1 2 80890 2.47249E-5 40445 0 4.03652E-6
11-113270600-G-C p.Gly637Arg missense ANKK1 1 80918 1.23582E-5 40459 0 8.81492E-6
11-113270600-G-A p.Gly637Arg missense ANKK1 1 80918 1.23582E-5 40459 0 5.28895E-5
11-113270609-G-A p.Ala640Thr missense ANKK1 1 80904 1.23603E-5 40452 0 NA
11-113270610-C-T p.Ala640Val missense ANKK1 1 80892 1.23622E-5 40446 0 4.03236E-6
11-113270611-G-A p.Ala640Ala synonymous ANKK1 5 80948 6.1768E-5 40474 0 2.14228E-4
11-113270624-C-T p.Leu645Leu synonymous ANKK1 1 81136 1.2325E-5 40568 0 NA
11-113270632-G-A p.Gln647Gln synonymous ANKK1 1 81258 1.23065E-5 40629 0 3.35076E-5
11-113270642-G-A p.Asp651Asn missense ANKK1 2 81350 2.45851E-5 40675 0 1.6076E-5
11-113270643-A-C p.Asp651Ala missense ANKK1 1 81338 1.22944E-5 40669 0 8.35143E-6
11-113270649-A-G p.Asn653Ser missense ANKK1 35 81460 4.29659E-4 40730 0 7.32904E-4
11-113270660-C-T p.Gln657* stop_gained ANKK1 51 81502 6.25752E-4 40751 0 0.00130698
11-113270675-C-A p.Pro662Thr missense ANKK1 2 81668 2.44894E-5 40834 0 NA
11-113270680-C-T p.Leu663Leu synonymous ANKK1 1 81716 1.22375E-5 40858 0 4.01871E-6
11-113270686-G-A p.Leu665Leu synonymous ANKK1 2 81750 2.44648E-5 40875 0 NA
11-113270689-G-A p.Ala666Ala synonymous ANKK1 13 81766 1.5899E-4 40883 0 9.15477E-5
11-113270699-A-G p.Ser670Gly missense ANKK1 1098 81788 0.013425 40894 44 0.0274946
11-113270700-G-A p.Ser670Asn missense ANKK1 4 81818 4.8889E-5 40909 0 1.27364E-4
11-113270707-C-T p.Phe672Phe synonymous ANKK1 2 81870 2.4429E-5 40935 0 2.99436E-4
11-113270721-A-C p.Asn677Thr missense ANKK1 2 81808 2.44475E-5 40904 0 1.20528E-5
11-113270721-A-G p.Asn677Ser missense ANKK1 1 81808 1.22237E-5 40904 0 NA
11-113270723-C-G p.Leu678Val missense ANKK1 47 81856 5.74179E-4 40928 0 0.00273903
11-113270728-A-G p.Leu679Leu synonymous ANKK1 2694 81816 0.0329275 40908 258 0.0695375
11-113270734-TCACGCAAATGTC-T p.Asn684_Ala687del disruptive_inframe_deletion ANKK1 1 81786 1.2227E-5 40893 0 NA
11-113270737-C-T p.His682His synonymous ANKK1 2 81790 2.44529E-5 40895 0 3.18654E-5
11-113270737-C-G p.His682Gln missense ANKK1 1 81790 1.22264E-5 40895 0 NA
11-113270749-C-T p.His686His synonymous ANKK1 210 81680 0.00257101 40840 0 0.00602064
11-113270753-C-T p.Arg688Cys missense ANKK1 3 81692 3.67233E-5 40846 0 6.37064E-5
11-113270763-TG-T p.Gly692fs frameshift ANKK1 3 81710 3.67152E-5 40855 0 4.02295E-6
11-113270764-G-T p.Val691Val synonymous ANKK1 1 81728 1.22357E-5 40864 0 5.03525E-4
11-113270773-A-G p.Thr694Thr synonymous ANKK1 1 81436 1.22796E-5 40718 0 8.41496E-6
11-113270776-C-T p.Pro695Pro synonymous ANKK1 2 81746 2.4466E-5 40873 0 5.03525E-4
11-113270777-G-A p.Ala696Thr missense ANKK1 136 81748 0.00166365 40874 0 0.00105387
11-113270788-C-T p.Ala699Ala synonymous ANKK1 1 81788 1.22267E-5 40894 0 5.63009E-5
11-113270789-G-A p.Ala700Thr missense ANKK1 7 81782 8.55934E-5 40891 0 6.25E-4
11-113270789-G-T p.Ala700Ser missense ANKK1 1 81782 1.22276E-5 40891 0 8.04525E-6
11-113270802-A-G p.Asn704Ser missense ANKK1 1 81832 1.22202E-5 40916 0 8.43185E-6
11-113270806-A-T p.Thr705Thr synonymous ANKK1 2 81846 2.44361E-5 40923 0 9.55475E-5
11-113270810-A-G p.Ile707Val missense ANKK1 1 81852 1.22172E-5 40926 0 9.55353E-5
11-113270827-C-T p.Val712Val synonymous ANKK1 2 81926 2.44123E-5 40963 0 5.03525E-4
11-113270828-G-A p.Glu713Lys missense ANKK1 18214 81752 0.222796 40876 2273 0.275941
11-113270836-C-T p.Gly715Gly synonymous ANKK1 1 81862 1.22157E-5 40931 0 6.12745E-5
11-113270837-G-A p.Ala716Thr missense ANKK1 2 81870 2.4429E-5 40935 0 1.22209E-5
11-113270839-C-T p.Ala716Ala synonymous ANKK1 1 81858 1.22163E-5 40929 0 NA
11-113270841-A-G p.Gln717Arg missense ANKK1 3 81862 3.6647E-5 40931 0 NA
11-113270848-C-T p.Asp719Asp synonymous ANKK1 4 81852 4.88687E-5 40926 0 1.57818E-4
11-113270849-G-A p.Val720Ile missense ANKK1 1 81862 1.22157E-5 40931 0 4.14962E-6
11-113270853-A-C p.Gln721Pro missense ANKK1 1 81862 1.22157E-5 40931 0 NA
11-113270864-A-G p.Ser725Gly missense ANKK1 1 81736 1.22345E-5 40868 0 2.23015E-4
11-113270868-G-C p.Cys726Ser missense ANKK1 1 81690 1.22414E-5 40845 0 4.40731E-6
11-113270873-C-T p.Pro728Ser missense ANKK1 6 81664 7.34718E-5 40832 0 1.59246E-4
11-113270883-T-C p.Leu731Pro missense ANKK1 1 81594 1.22558E-5 40797 0 NA
11-113270891-C-T p.Arg734Cys missense ANKK1 16 81458 1.9642E-4 40729 0 8.63782E-5
11-113270892-G-A p.Arg734His missense ANKK1 5 81372 6.14462E-5 40686 0 6.37146E-5
11-113270892-G-T p.Arg734Leu missense ANKK1 2 81374 2.45779E-5 40687 0 NA
11-113270897-C-T p.Arg736* stop_gained ANKK1 24 81364 2.94971E-4 40682 0 0.00101112
11-113270898-G-A p.Arg736Gln missense ANKK1 2 81346 2.45863E-5 40673 0 5.63412E-5
11-113270907-G-A p.Gly739Asp missense ANKK1 3 81198 3.69467E-5 40599 0 1.14654E-5
11-113270916-C-T p.Ser742Phe missense ANKK1 2 81136 2.465E-5 40568 0 1.20463E-5
11-113270924-G-A p.Glu745Lys missense ANKK1 1 80988 1.23475E-5 40494 0 4.56371E-5
11-113270934-A-T p.Glu748Val missense ANKK1 1 80826 1.23723E-5 40413 0 NA
11-113270937-C-T p.Pro749Leu missense ANKK1 1 80750 1.23839E-5 40375 0 5.1701E-5
11-113270938-G-A p.Pro749Pro synonymous ANKK1 3 80766 3.71443E-5 40383 0 0.00310559
11-113270945-G-A p.Ala752Thr missense ANKK1 1 80720 1.23885E-5 40360 0 6.44607E-4
11-113270954-G-C p.Gly755Arg missense ANKK1 4 80674 4.95823E-5 40337 0 6.52989E-6
11-113270957-G-T p.Gly756Cys missense ANKK1 1 80584 1.24094E-5 40292 0 1.31062E-5
11-113270962-T-C p.Ser757Ser synonymous ANKK1 1 80536 1.24168E-5 40268 0 3.18573E-5
11-113270970-G-A p.Gly760Glu missense ANKK1 1 80398 1.24381E-5 40199 0 NA
11-113270972-G-A p.Ala761Thr missense ANKK1 1 80350 1.24456E-5 40175 0 NA
11-113270975-G-A p.Glu762Lys missense ANKK1 1 80230 1.24642E-5 40115 0 NA
11-113270979-T-G p.Met763Arg missense ANKK1 1 80156 1.24757E-5 40078 0 NA
11-113270984-A-T p.Ile765Phe missense ANKK1 1 79974 1.25041E-5 39987 0 NA
11-113270986-T-A p.Ile765Ile synonymous ANKK1 1 79884 1.25182E-5 39942 0 6.82259E-6
11-113271139-T-A c.*150T>A splice_region ANKK1 1 58746 1.70224E-5 29373 0 NA