Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-91875566-A-T c.-358A>T 5_prime_UTR_premature_start_codon_gain ANKIB1 1 13032 7.67342E-5 6516 0 NA
7-91875833-C-CAAT c.-91_-91+1insAAT splice_donor ANKIB1 1 20580 4.85909E-5 10290 0 NA
7-91924195-T-C c.-90-8T>C splice_region ANKIB1 2 73934 2.70512E-5 36967 0 NA
7-91924259-G-C c.-34G>C 5_prime_UTR_premature_start_codon_gain ANKIB1 1 80350 1.24456E-5 40175 0 5.84023E-6
7-91924277-A-AAAAAC p.Met1fs frameshift ANKIB1 2 81172 2.4639E-5 40586 0 4.85263E-6
7-91924306-C-G p.Thr5Ser missense ANKIB1 2 81766 2.446E-5 40883 0 1.68982E-5
7-91924316-C-T p.Phe8Phe synonymous ANKIB1 4 81940 4.88162E-5 40970 0 NA
7-91924349-G-A p.Leu19Leu synonymous ANKIB1 2 82326 2.42937E-5 41163 0 2.7257E-4
7-91924372-A-G p.Asn27Ser missense ANKIB1 3 82380 3.64166E-5 41190 0 1.73931E-5
7-91924412-T-C p.Tyr40Tyr synonymous ANKIB1 3 82338 3.64352E-5 41169 0 3.18573E-5
7-91924419-C-T p.Pro43Ser missense ANKIB1 1 82298 1.2151E-5 41149 0 3.18695E-5
7-91924419-C-G p.Pro43Ala missense ANKIB1 3 82298 3.64529E-5 41149 0 2.4717E-5
7-91924420-C-T p.Pro43Leu missense ANKIB1 3 82284 3.64591E-5 41142 0 6.25E-4
7-91924427-G-A p.Gln45Gln synonymous ANKIB1 1 82258 1.21569E-5 41129 0 3.18817E-5
7-91924427-G-C p.Gln45His missense ANKIB1 1 82258 1.21569E-5 41129 0 3.18817E-5
7-91924429-A-G p.His46Arg missense ANKIB1 1 82256 1.21572E-5 41128 0 NA
7-91924458-C-T p.His56Tyr missense ANKIB1 1 81960 1.22011E-5 40980 0 NA
7-91924479-G-A p.Gly63Arg missense+splice_region ANKIB1 3 81414 3.68487E-5 40707 0 NA
7-91936674-A-G p.Thr64Ala missense+splice_region ANKIB1 2 81970 2.43992E-5 40985 0 1.0752E-5
7-91936684-G-A p.Gly67Asp missense ANKIB1 23 81946 2.80673E-4 40973 0 2.80741E-4
7-91936714-T-C p.Val77Ala missense ANKIB1 1 82112 1.21785E-5 41056 0 NA
7-91936715-G-A p.Val77Val synonymous ANKIB1 9 82126 1.09588E-4 41063 0 0.00125
7-91936720-A-G p.Asn79Ser missense ANKIB1 1 82156 1.2172E-5 41078 0 NA
7-91936768-C-T p.Ser95Phe missense ANKIB1 5 82404 6.06767E-5 41202 0 1.74069E-4
7-91936771-A-G p.Glu96Gly missense ANKIB1 1 82416 1.21336E-5 41208 0 3.18613E-5
7-91936775-A-G p.Gly97Gly synonymous ANKIB1 1 82410 1.21345E-5 41205 0 NA
7-91936788-C-T p.Arg102Cys missense ANKIB1 3 82476 3.63742E-5 41238 0 0.00151057
7-91936789-G-A p.Arg102His missense ANKIB1 4 82476 4.8499E-5 41238 0 6.25E-4
7-91936789-G-T p.Arg102Leu missense ANKIB1 3 82476 3.63742E-5 41238 0 3.1902E-5
7-91936794-G-T p.Ala104Ser missense ANKIB1 2 82490 2.42454E-5 41245 0 2.00765E-5
7-91936797-C-T p.Arg105Cys missense ANKIB1 1 82482 1.21239E-5 41241 0 1.65645E-5
7-91936798-G-A p.Arg105His missense ANKIB1 6 82480 7.27449E-5 41240 0 1.60613E-5
7-91936812-G-C p.Asp110His missense ANKIB1 7 82518 8.483E-5 41259 0 9.55718E-5
7-91936856-A-G p.Lys124Lys synonymous ANKIB1 1 82648 1.20995E-5 41324 0 NA
7-91936874-G-T p.Gln130His missense ANKIB1 27 82720 3.26402E-4 41360 1 5.10204E-4
7-91936888-G-A p.Arg135Lys missense ANKIB1 3 82726 3.62643E-5 41363 0 1.49415E-4
7-91936894-C-A p.Ala137Asp missense ANKIB1 1 82738 1.20863E-5 41369 0 NA
7-91936901-T-C p.Asp139Asp synonymous ANKIB1 4 82732 4.83489E-5 41366 0 1.00424E-4
7-91936922-C-T p.Asn146Asn synonymous ANKIB1 3 82660 3.62932E-5 41330 0 NA
7-91936975-AT-A c.486+6delT splice_region ANKIB1 282 49164 0.0057359 24582 0 0.228664
7-91936975-A-AT c.486+5_486+6insT splice_region ANKIB1 470 76562 0.00613882 38281 1 0.0903135
7-91936975-ATT-A c.486+6_486+7delTT splice_region ANKIB1 2 81194 2.46324E-5 40597 0 0.00182092
7-91936975-A-T c.486+5A>T splice_region ANKIB1 1 81198 1.23156E-5 40599 0 3.36474E-4
7-91936975-A-ATT c.486+5_486+6insTT splice_region ANKIB1 1 81200 1.23153E-5 40600 0 6.53155E-4
7-91948676-T-C p.Ala173Ala synonymous ANKIB1 1 82024 1.21916E-5 41012 0 3.18776E-5
7-91948721-A-G p.Gln188Gln synonymous ANKIB1 1 82192 1.21666E-5 41096 0 4.02353E-6
7-91948722-C-T p.His189Tyr missense ANKIB1 1 82208 1.21643E-5 41104 0 NA
7-91948742-C-G p.Leu195Leu synonymous ANKIB1 1 82256 1.21572E-5 41128 0 1.20649E-5
7-91948744-A-G p.Asn196Ser missense ANKIB1 4 82252 4.8631E-5 41126 0 1.20635E-5
7-91948745-T-C p.Asn196Asn synonymous ANKIB1 2 82252 2.43155E-5 41126 0 1.66102E-5
7-91948757-A-G p.Gln200Gln synonymous ANKIB1 1 82294 1.21516E-5 41147 0 6.25E-4
7-91948761-G-A p.Val202Ile missense ANKIB1 1 82288 1.21524E-5 41144 0 1.6597E-5
7-91948770-C-T p.Arg205Trp missense ANKIB1 4 82300 4.86027E-5 41150 0 2.07431E-4
7-91948771-G-A p.Arg205Gln missense ANKIB1 1 82286 1.21527E-5 41143 0 8.05121E-6
7-91948778-C-T p.Pro207Pro synonymous ANKIB1 1 82302 1.21504E-5 41151 0 6.25E-4
7-91948781-G-A p.Glu208Glu synonymous ANKIB1 1 82304 1.21501E-5 41152 0 NA
7-91948781-G-C p.Glu208Asp missense ANKIB1 1 82304 1.21501E-5 41152 0 NA
7-91948804-A-G p.Tyr216Cys missense ANKIB1 2 82286 2.43055E-5 41143 0 NA
7-91948808-T-C p.Ala217Ala synonymous ANKIB1 2 82248 2.43167E-5 41124 0 NA
7-91948809-G-A p.Ala218Thr missense ANKIB1 6 82242 7.29554E-5 41121 0 4.15811E-5
7-91948811-A-T p.Ala218Ala synonymous ANKIB1 6 82236 7.29607E-5 41118 0 1.27372E-4
7-91948821-C-A p.Arg222Arg synonymous ANKIB1 57 82060 6.94614E-4 41030 0 3.7141E-4
7-91948822-G-A p.Arg222Gln missense ANKIB1 27 82040 3.29108E-4 41020 1 4.30782E-5
7-91948824-G-GAGCCATATGAAGGATTA p.Pro207fs frameshift ANKIB1 1 82036 1.21898E-5 41018 0 NA
7-91948826-G-GCCATATGAAGGATTAAGGCCTCAGGATCTTCGTAGACTAAAA c.669_669+1insCCATATGAAGGATTAAGGCCTCAGGATCTTCGTAGACTAAAA splice_donor ANKIB1 3 81998 3.65863E-5 40999 1 4.37128E-6
7-91948826-G-GCCATATGAAGGATTAAGGCCTCAGGATCTTC c.669_669+1insCCATATGAAGGATTAAGGCCTCAGGATCTTC splice_donor ANKIB1 1 81998 1.21954E-5 40999 0 4.37128E-6
7-91948926-C-T n.92-8C>T splice_region ANKIB1 19 74850 2.53841E-4 37425 0 0.00268817
7-91955237-G-A c.481-5G>A splice_region ANKIB1 1 50838 1.96703E-5 25419 0 NA
7-91957114-G-A p.Arg229Arg synonymous ANKIB1 3 81612 3.67593E-5 40806 0 1.0529E-4
7-91957128-G-A p.Arg234His missense ANKIB1 1 81652 1.22471E-5 40826 0 NA
7-91957197-C-G p.Ala257Gly missense ANKIB1 2 81510 2.45369E-5 40755 0 6.3743E-5
7-91957210-T-G p.Ala261Ala synonymous ANKIB1 1 81354 1.2292E-5 40677 0 4.97359E-6
7-91957214-G-GACTGGGACAGGGAGAAATTACTTGAAGCTTGGATGTCCAACCCGGA c.787_787+1insACTGGGACAGGGAGAAATTACTTGAAGCTTGGATGTCCAACCCGGA splice_donor ANKIB1 2 81344 2.45869E-5 40672 1 NA
7-91972332-T-C c.788-6T>C splice_region ANKIB1 3 82252 3.64733E-5 41126 0 3.18431E-5
7-91972347-G-A p.Arg266Lys missense ANKIB1 1 82378 1.21392E-5 41189 0 8.03181E-6
7-91972374-C-G p.Ser275Cys missense ANKIB1 3 82494 3.63663E-5 41247 0 3.18634E-5
7-91972381-G-A p.Pro277Pro synonymous ANKIB1 1 82512 1.21194E-5 41256 0 2.48455E-5
7-91972382-G-A p.Glu278Lys missense ANKIB1 2 82524 2.42354E-5 41262 0 4.01303E-6
7-91972418-A-G p.Thr290Ala missense ANKIB1 2 82540 2.42307E-5 41270 0 1.20392E-5
7-91972435-G-A p.Gly295Gly synonymous ANKIB1 1 82564 1.21118E-5 41282 0 4.01387E-6
7-91972439-A-G p.Asn297Asp missense ANKIB1 1 82564 1.21118E-5 41282 0 1.20412E-5
7-91972440-A-G p.Asn297Ser missense ANKIB1 3 82566 3.63346E-5 41283 0 8.02704E-6
7-91972442-G-T p.Ala298Ser missense ANKIB1 1 82564 1.21118E-5 41282 0 NA
7-91972452-C-T p.Thr301Met missense ANKIB1 1 82572 1.21106E-5 41286 0 1.657E-5
7-91972453-G-A p.Thr301Thr synonymous ANKIB1 2 82578 2.42195E-5 41289 0 5.03525E-4
7-91972453-G-C p.Thr301Thr synonymous ANKIB1 1 82578 1.21098E-5 41289 0 2.48571E-5
7-91972455-T-G p.Leu302Arg missense ANKIB1 4 82598 4.84273E-5 41299 1 NA
7-91972459-A-G p.Pro303Pro synonymous ANKIB1 1 82612 1.21048E-5 41306 0 NA
7-91972481-A-G p.Thr311Ala missense ANKIB1 3 82648 3.62985E-5 41324 0 6.25E-4
7-91972485-G-A p.Arg312His missense ANKIB1 1 82650 1.20992E-5 41325 0 4.01445E-6
7-91972521-C-A p.Ser324Tyr missense ANKIB1 1 82618 1.21039E-5 41309 0 NA
7-91972539-C-A p.Thr330Asn missense ANKIB1 2 82536 2.42319E-5 41268 0 NA
7-91972550-T-G c.996+4T>G splice_region ANKIB1 1 82474 1.2125E-5 41237 0 4.04914E-6
7-91974288-C-G c.997-4C>G splice_region ANKIB1 1 81572 1.22591E-5 40786 0 NA
7-91974309-C-T p.Cys338Cys synonymous ANKIB1 2 81820 2.44439E-5 40910 0 8.28349E-6
7-91974321-A-G p.Val342Val synonymous ANKIB1 122 81884 0.00148991 40942 1 0.00302663
7-91974333-T-C p.Pro346Pro synonymous ANKIB1 2 81942 2.44075E-5 40971 0 NA
7-91974351-A-G p.Gly352Gly synonymous ANKIB1 377 81852 0.00460587 40926 0 0.00626108
7-91974359-T-A p.Phe355Tyr missense ANKIB1 2 81848 2.44355E-5 40924 0 NA
7-91974375-G-A p.Trp360* stop_gained ANKIB1 2 81738 2.44684E-5 40869 0 NA
7-91974378-G-A p.Glu361Glu splice_region+synonymous ANKIB1 1 81678 1.22432E-5 40839 0 3.18451E-5
7-91977260-G-A c.183-1G>A splice_acceptor ANKIB1 2 50158 3.9874E-5 25079 0 8.70322E-5
7-91977265-G-A p.Val63Ile missense ANKIB1 1 50296 1.98823E-5 25148 0 8.12493E-6
7-91977273-CAG-C p.Ser68fs frameshift ANKIB1 2 50346 3.97251E-5 25173 0 9.62016E-5
7-91977277-G-A p.Glu67Lys missense ANKIB1 1 50398 1.98421E-5 25199 0 3.18573E-5
7-91977280-A-G p.Ser68Gly missense ANKIB1 53 50394 0.00105171 25197 0 8.59927E-4
7-91977289-A-G p.Met71Val missense ANKIB1 2 50378 3.96999E-5 25189 0 1.5918E-5
7-91977293-T-C p.Ile72Thr missense ANKIB1 3 50388 5.9538E-5 25194 0 6.36983E-5
7-91977295-T-C p.Ser73Pro missense ANKIB1 1 50478 1.98106E-5 25239 0 8.44167E-5
7-91977325-A-T p.Ile83Leu missense ANKIB1 1 50614 1.97574E-5 25307 0 NA
7-91977325-A-G p.Ile83Val missense ANKIB1 1 50614 1.97574E-5 25307 0 7.7884E-6
7-91977331-G-A c.252+1G>A splice_donor ANKIB1 1 50614 1.97574E-5 25307 0 3.18593E-5
7-91977332-T-C c.252+2T>C splice_donor ANKIB1 1 50600 1.97628E-5 25300 0 NA
7-91977336-G-C c.252+6G>C splice_region ANKIB1 1 50538 1.97871E-5 25269 0 NA
7-91980270-G-T p.Leu364Phe missense ANKIB1 1 82652 1.20989E-5 41326 0 NA
7-91980291-T-C p.Gly371Gly synonymous ANKIB1 4 82668 4.83863E-5 41334 0 NA
7-91980294-A-G p.Glu372Glu synonymous ANKIB1 4 82674 4.83828E-5 41337 0 1.2875E-5
7-91980298-C-T p.His374Tyr missense ANKIB1 3 82656 3.6295E-5 41328 0 8.36806E-6
7-91980317-C-A p.Ala380Glu missense ANKIB1 1 82586 1.21086E-5 41293 0 4.22279E-6
7-91980318-A-C p.Ala380Ala synonymous ANKIB1 3 82588 3.63249E-5 41294 0 NA
7-91980320-A-T p.Tyr381Phe missense ANKIB1 13 82580 1.57423E-4 41290 0 3.18451E-5
7-91980327-C-T p.Cys383Cys synonymous ANKIB1 1 82560 1.21124E-5 41280 0 1.44613E-5
7-91980394-C-A p.Gln406Lys missense ANKIB1 1 82334 1.21457E-5 41167 0 NA
7-91980411-A-G c.1230+3A>G splice_region ANKIB1 2 82102 2.43599E-5 41051 0 3.17098E-5
7-91981792-C-G p.Ala411Ala splice_region+synonymous ANKIB1 1 82280 1.21536E-5 41140 0 NA
7-91981814-A-G p.Ile419Val missense ANKIB1 1 82572 1.21106E-5 41286 0 8.28803E-6
7-91981819-A-C p.Lys420Asn missense ANKIB1 1 82592 1.21077E-5 41296 0 3.18552E-5
7-91981836-G-C p.Gly426Ala missense ANKIB1 1 82640 1.21007E-5 41320 0 NA
7-91981860-C-T p.Thr434Met missense ANKIB1 4 82646 4.83992E-5 41323 0 4.96919E-5
7-91981861-G-A p.Thr434Thr synonymous ANKIB1 2 82636 2.42025E-5 41318 0 0.00151057
7-91981874-A-G p.Asn439Asp missense ANKIB1 7 82628 8.4717E-5 41314 0 5.03525E-4
7-91981879-A-G p.Thr440Thr synonymous ANKIB1 1 82616 1.21042E-5 41308 0 6.36943E-5
7-91981880-T-C p.Ser441Pro missense ANKIB1 1 82614 1.21045E-5 41307 0 3.18471E-5
7-91981889-G-C p.Asp444His missense ANKIB1 1 82616 1.21042E-5 41308 0 9.55475E-5
7-91981904-C-A p.Pro449Thr missense ANKIB1 1 82578 1.21098E-5 41289 0 3.18471E-5
7-91981909-G-A p.Leu450Leu synonymous ANKIB1 1 82554 1.21133E-5 41277 0 8.05854E-6
7-91981938-A-G p.Lys460Arg missense ANKIB1 1 82520 1.21183E-5 41260 0 4.08067E-6
7-91981946-C-T p.Leu463Phe missense ANKIB1 1 82500 1.21212E-5 41250 0 1.66403E-5
7-91991512-G-A p.Glu471Lys missense ANKIB1 1 82510 1.21197E-5 41255 0 4.44097E-6
7-91991568-C-T p.Thr489Thr synonymous ANKIB1 8 82474 9.70003E-5 41237 0 3.21071E-4
7-91991569-G-A p.Glu490Lys missense ANKIB1 2 82478 2.42489E-5 41239 0 4.70402E-6
7-91991587-C-CTTGTGGGAGTTAGTGAAGCCTACGAGGATGCCGCCAATTGTCTCTG c.1486_1486+1insTTGTGGGAGTTAGTGAAGCCTACGAGGATGCCGCCAATTGTCTCTG splice_donor ANKIB1 1 82354 1.21427E-5 41177 0 NA
7-91991595-G-C c.1486+8G>C splice_region ANKIB1 1 82248 1.21584E-5 41124 0 2.67938E-5
7-92000809-C-T p.Ala502Val missense ANKIB1 1 82712 1.20901E-5 41356 0 NA
7-92000813-C-T p.Tyr503Tyr synonymous ANKIB1 2 82730 2.4175E-5 41365 0 0.00100705
7-92000822-C-T p.Ala506Ala synonymous ANKIB1 60 82764 7.24953E-4 41382 2 0.0075
7-92000827-A-G p.Asn508Ser missense ANKIB1 6 82786 7.2476E-5 41393 0 2.72043E-4
7-92000852-C-G p.Ser516Ser synonymous ANKIB1 2 82814 2.41505E-5 41407 0 NA
7-92000857-C-T p.Pro518Leu missense ANKIB1 1 82818 1.20747E-5 41409 0 NA
7-92000875-C-T p.Ser524Phe missense ANKIB1 2 82806 2.41528E-5 41403 1 NA
7-92000925-A-AG c.1617+4_1617+5insG splice_region ANKIB1 1 82674 1.20957E-5 41337 0 NA
7-92015817-T-C c.1618-6T>C splice_region ANKIB1 1 81858 1.22163E-5 40929 0 NA
7-92015828-G-A p.Ser14Asn missense ANKIB1 1 82060 1.21862E-5 41030 0 NA
7-92015837-T-C p.Phe17Ser missense ANKIB1 1 82102 1.218E-5 41051 0 1.31614E-5
7-92015867-A-G p.Asn27Ser missense ANKIB1 1 82478 1.21244E-5 41239 0 3.18593E-5
7-92015876-G-A p.Arg30His missense ANKIB1 8 82470 9.7005E-5 41235 0 0.001875
7-92015882-T-G p.Leu32Arg missense ANKIB1 1 82506 1.21203E-5 41253 0 1.26261E-5
7-92015885-A-G p.Glu33Gly missense ANKIB1 1 82494 1.21221E-5 41247 0 4.21937E-6
7-92015896-G-A p.Arg564Lys missense ANKIB1 1 82502 1.21209E-5 41251 0 2.5346E-5
7-92015908-A-C p.Tyr568Ser missense ANKIB1 1 82454 1.2128E-5 41227 0 NA
7-92015920-A-T p.Gln572Leu missense ANKIB1 2 82468 2.42518E-5 41234 0 NA
7-92015931-G-A p.Glu576Lys missense ANKIB1 1 82426 1.21321E-5 41213 0 NA
7-92015947-T-G p.Ter54Glyext*? stop_lost ANKIB1 3 82224 3.64857E-5 41112 1 1.75805E-4
7-92015955-G-A p.Glu584Lys missense+splice_region ANKIB1 1 82204 1.21649E-5 41102 0 2.37744E-5
7-92015958-G-GCTGAGAAAAAACACAAACGATTTCAGGAACTTGACAGATTTATGCAC c.1752+1_1752+2insCTGAGAAAAAACACAAACGATTTCAGGAACTTGACAGATTTATGCAC splice_donor ANKIB1 1 82106 1.21794E-5 41053 0 NA
7-92017117-G-GA p.His589fs frameshift ANKIB1 2 82368 2.42813E-5 41184 0 NA
7-92017122-A-C p.Lys588Thr missense ANKIB1 1 82376 1.21395E-5 41188 0 NA
7-92017127-A-T p.Lys590* stop_gained ANKIB1 1 82376 1.21395E-5 41188 0 NA
7-92017131-G-A p.Arg591Gln missense ANKIB1 4 82370 4.85614E-5 41185 0 5.28451E-5
7-92017161-A-G p.Tyr601Cys missense ANKIB1 1 82378 1.21392E-5 41189 0 8.65262E-6
7-92017165-T-C p.Tyr602Tyr synonymous ANKIB1 1 82378 1.21392E-5 41189 0 NA
7-92017196-CAGGTATGTCCCAAATCATTTCAAATGAGCTGACCTATACTGTTGTGAATAAATAAAGAGAATGGTTTAAATTCTTTATTTCTATTCCTTT-C p.Gln613fs frameshift ANKIB1 14 82260 1.70192E-4 41130 7 NA
7-92017297-A-G p.Gln616Gln synonymous ANKIB1 1 82350 1.21433E-5 41175 0 2.20323E-5
7-92017298-C-T p.Arg617Cys missense ANKIB1 3 82340 3.64343E-5 41170 0 5.04032E-4
7-92017299-G-A p.Arg617His missense ANKIB1 1 82346 1.21439E-5 41173 0 NA
7-92017341-G-A p.Arg631Lys missense ANKIB1 1 82402 1.21356E-5 41201 0 NA
7-92017355-A-ACTGAAGGAGGCT c.1906_1906+1insCTGAAGGAGGCT splice_donor ANKIB1 8 82320 9.71817E-5 41160 4 NA
7-92019282-T-G c.1907-3T>G splice_region ANKIB1 1 81932 1.22052E-5 40966 0 NA
7-92019302-G-A p.Asp642Asn missense ANKIB1 1 82064 1.21856E-5 41032 0 4.24326E-6
7-92019307-C-T p.Thr643Thr synonymous ANKIB1 28 82064 3.41197E-4 41032 0 3.69041E-4
7-92019310-T-C p.Thr644Thr synonymous ANKIB1 3 82088 3.65461E-5 41044 0 7.17948E-5
7-92019328-T-A p.Val650Val synonymous ANKIB1 1 82116 1.21779E-5 41058 0 NA
7-92019330-A-G p.His651Arg missense ANKIB1 19 82120 2.31369E-4 41060 0 7.44072E-4
7-92019334-G-A p.Val652Val synonymous ANKIB1 7 82094 8.52681E-5 41047 0 NA
7-92019401-AC-CT p.Thr675Leu missense ANKIB1 1 81916 1.22076E-5 40958 0 NA
7-92019429-A-AAAC p.Glu681delinsAspLys disruptive_inframe_insertion ANKIB1 2 81622 2.45032E-5 40811 1 NA
7-92019430-A-AACAGACCTAGAAATGGTCACTGAAGACCTT c.2052_2052+1insACAGACCTAGAAATGGTCACTGAAGACCTT splice_donor ANKIB1 2 81606 2.4508E-5 40803 1 NA
7-92020504-G-A p.Asp693Asn missense ANKIB1 1 80716 1.23891E-5 40358 0 NA
7-92020512-C-T p.Ala695Ala synonymous ANKIB1 1 80924 1.23573E-5 40462 0 NA
7-92020514-A-G p.Gln696Arg missense ANKIB1 1 80968 1.23506E-5 40484 0 NA
7-92020515-G-A p.Gln696Gln synonymous ANKIB1 152 80982 0.00187696 40491 0 0.010625
7-92020565-C-T p.Ala713Val missense ANKIB1 1 81470 1.22745E-5 40735 0 NA
7-92020571-G-A p.Cys715Tyr missense ANKIB1 2 81454 2.45537E-5 40727 0 NA
7-92020573-C-G p.Leu716Val missense ANKIB1 12 81448 1.47333E-4 40724 0 1.61018E-5
7-92020581-G-A p.Gln718Gln synonymous ANKIB1 1 81418 1.22823E-5 40709 0 NA
7-92020611-G-A p.Val728Val synonymous ANKIB1 4 81408 4.91352E-5 40704 0 1.77346E-4
7-92020626-T-A p.Ala733Ala synonymous ANKIB1 5 80964 6.17558E-5 40482 0 NA
7-92020638-A-T p.Ser737Ser synonymous ANKIB1 1 80916 1.23585E-5 40458 0 3.18857E-5
7-92020649-C-A p.Pro741Gln missense ANKIB1 1 80874 1.23649E-5 40437 0 8.12057E-6
7-92020651-A-G p.Arg742Gly missense ANKIB1 1 80810 1.23747E-5 40405 0 NA
7-92020654-C-T p.Arg743Cys missense ANKIB1 1 80652 1.23989E-5 40326 0 1.70926E-5
7-92020655-G-A p.Arg743His missense ANKIB1 2 80652 2.47979E-5 40326 0 1.225E-5
7-92020655-G-T p.Arg743Leu missense ANKIB1 1 80652 1.23989E-5 40326 0 4.08333E-6
7-92020657-A-AGCTTTGCT p.Asp736fs frameshift ANKIB1 5 80666 6.1984E-5 40333 2 4.07943E-6
7-92021589-G-A p.Gly756Arg missense ANKIB1 1 82108 1.21791E-5 41054 0 NA
7-92021597-A-G p.Ala758Ala synonymous ANKIB1 1 82114 1.21782E-5 41057 0 8.2813E-6
7-92025683-A-G p.Tyr763Cys missense ANKIB1 2 81838 2.44385E-5 40919 0 3.1841E-5
7-92025687-T-C p.Ala764Ala synonymous ANKIB1 1 81968 1.21999E-5 40984 0 NA
7-92025698-A-G p.Tyr768Cys missense ANKIB1 2 82174 2.43386E-5 41087 0 NA
7-92025700-C-T p.Arg769Trp missense ANKIB1 4 82192 4.86665E-5 41096 0 4.53128E-6
7-92025713-G-A p.Arg773Lys missense ANKIB1 1 82328 1.21465E-5 41164 0 NA
7-92025717-A-G p.Gln774Gln synonymous ANKIB1 4 82330 4.8585E-5 41165 0 2.53229E-4
7-92025722-G-A p.Arg776His missense ANKIB1 3 82364 3.64237E-5 41182 0 1.32442E-5
7-92025726-A-G p.Arg777Arg synonymous ANKIB1 112 82366 0.00135978 41183 1 0.00216533
7-92025729-A-G p.Gly778Gly synonymous ANKIB1 2 82362 2.4283E-5 41181 0 1.27364E-4
7-92025732-T-C p.Asp779Asp synonymous ANKIB1 1 82376 1.21395E-5 41188 0 NA
7-92025752-A-G p.Asn786Ser missense ANKIB1 1 82328 1.21465E-5 41164 0 NA
7-92025757-C-G p.Pro788Ala missense ANKIB1 2 82332 2.42919E-5 41166 0 5.03525E-4
7-92025767-A-G p.Asp791Gly missense ANKIB1 1 82316 1.21483E-5 41158 0 NA
7-92027034-C-A c.2396-3C>A splice_region ANKIB1 3 81878 3.66399E-5 40939 0 3.18552E-5
7-92027050-C-T p.Gly803Gly synonymous ANKIB1 16 81924 1.95303E-4 40962 0 1.9118E-4
7-92027052-G-T p.Gly804Val missense ANKIB1 1 81950 1.22026E-5 40975 0 NA
7-92027054-A-G p.Ser805Gly missense ANKIB1 1 81974 1.2199E-5 40987 0 4.14394E-5
7-92027063-C-T p.Arg808Cys missense ANKIB1 1 82074 1.21841E-5 41037 0 2.02843E-5
7-92027064-G-A p.Arg808His missense ANKIB1 22 82078 2.68038E-4 41039 0 2.03485E-4
7-92027064-G-T p.Arg808Leu missense ANKIB1 8 82078 9.74683E-5 41039 0 8.13941E-6
7-92027068-G-T p.Arg809Ser missense ANKIB1 1 82128 1.21761E-5 41064 0 NA
7-92027080-C-T p.Ser813Ser synonymous ANKIB1 1263 82188 0.0153672 41094 50 0.0331995
7-92027081-G-A p.Val814Met missense ANKIB1 3 82208 3.64928E-5 41104 0 6.25E-4
7-92027086-A-G p.Val815Val synonymous ANKIB1 1 82224 1.21619E-5 41112 0 NA
7-92027110-G-A p.Leu823Leu synonymous ANKIB1 4 82344 4.85767E-5 41172 0 2.48451E-5
7-92027127-G-A p.Arg829His missense ANKIB1 1 82384 1.21383E-5 41192 0 4.95802E-5
7-92027148-G-A p.Arg836His missense ANKIB1 2 82404 2.42707E-5 41202 0 1.24314E-5
7-92027174-G-GCTCTGAGTTCCTTGGATGAAGACGATCCCAATA c.2532+1_2532+2insCTCTGAGTTCCTTGGATGAAGACGATCCCAATA splice_donor ANKIB1 1 82334 1.21457E-5 41167 0 NA
7-92027519-G-C c.2533-7G>C splice_region ANKIB1 141 82296 0.00171333 41148 0 0.00363544
7-92027522-T-A c.2533-4T>A splice_region ANKIB1 1 82318 1.2148E-5 41159 0 NA
7-92027529-C-G p.Leu846Val missense ANKIB1 1 82340 1.21448E-5 41170 0 NA
7-92027537-C-G p.Ser848Ser synonymous ANKIB1 8440 82000 0.102927 41000 462 0.126873
7-92027548-A-G p.Asp852Gly missense ANKIB1 1 82250 1.21581E-5 41125 0 NA
7-92027549-C-T p.Asp852Asp synonymous ANKIB1 1 82244 1.21589E-5 41122 0 3.45328E-5
7-92027553-C-T p.Pro854Ser missense ANKIB1 1 82274 1.21545E-5 41137 0 NA
7-92027557-A-G p.Asn855Ser missense ANKIB1 21 82250 2.55319E-4 41125 0 6.4293E-4
7-92027563-T-G p.Leu857Arg missense ANKIB1 1 82262 1.21563E-5 41131 0 3.3873E-5
7-92027606-C-T p.Leu871Leu synonymous ANKIB1 1 82110 1.21788E-5 41055 0 2.531E-5
7-92027607-G-A p.Asp872Asn missense ANKIB1 3 82096 3.65426E-5 41048 0 6.37267E-5
7-92027608-A-G p.Asp872Gly missense ANKIB1 5 82102 6.08999E-5 41051 0 2.53054E-5
7-92027618-T-C p.Thr875Thr synonymous ANKIB1 1 82056 1.21868E-5 41028 0 NA
7-92027631-A-G p.Ser880Gly missense ANKIB1 4 82000 4.87805E-5 41000 0 1.27405E-4
7-92027639-A-G p.Glu882Glu synonymous ANKIB1 1 81990 1.21966E-5 40995 0 NA
7-92027653-C-T p.Ala887Val missense ANKIB1 1 81910 1.22085E-5 40955 0 6.37105E-5
7-92027662-C-G p.Thr890Ser missense ANKIB1 1 81884 1.22124E-5 40942 0 NA
7-92027662-C-T p.Thr890Ile missense ANKIB1 1 81884 1.22124E-5 40942 0 NA
7-92027671-C-CAACAGATTATTAATTTTATTTATACAGAAAAATTAT p.Pro893_Ser894insThrAspTyrTerPheTyrLeuTyrArgLysIleIle stop_gained ANKIB1 1 81858 1.22163E-5 40929 0 NA
7-92027690-C-G p.Val899Val synonymous ANKIB1 1 81768 1.22297E-5 40884 0 5.15296E-5
7-92027691-C-T p.Pro900Ser missense ANKIB1 3 81770 3.66883E-5 40885 0 4.06365E-6
7-92027712-C-T p.Arg907Trp missense ANKIB1 2 81690 2.44828E-5 40845 0 4.05449E-6
7-92027713-G-A p.Arg907Gln missense ANKIB1 6 81684 7.34538E-5 40842 0 6.86177E-5
7-92027721-T-C p.Leu910Leu synonymous ANKIB1 4 81704 4.89572E-5 40852 0 0.0020141
7-92027735-G-A p.Glu914Glu synonymous ANKIB1 1 81658 1.22462E-5 40829 0 NA
7-92027743-A-G p.Glu917Gly missense ANKIB1 3 81678 3.67296E-5 40839 0 NA
7-92027753-C-CA p.Ser921fs frameshift ANKIB1 1 81688 1.22417E-5 40844 0 NA
7-92027778-A-G p.Asn929Asp missense ANKIB1 1 81746 1.2233E-5 40873 0 NA
7-92027788-T-G p.Phe932Cys missense ANKIB1 2 81828 2.44415E-5 40914 0 4.02398E-6
7-92027793-A-G p.Thr934Ala missense ANKIB1 1 81866 1.22151E-5 40933 0 4.0233E-6
7-92027796-G-T p.Asp935Tyr missense ANKIB1 1 81896 1.22106E-5 40948 0 6.37146E-5
7-92027798-C-T p.Asp935Asp synonymous ANKIB1 1 81904 1.22094E-5 40952 0 4.02298E-6
7-92027800-C-T p.Thr936Ile missense ANKIB1 1 81930 1.22055E-5 40965 0 NA
7-92027804-G-A p.Leu937Leu synonymous ANKIB1 4 81970 4.87983E-5 40985 0 9.55475E-5
7-92027808-T-G p.Ser939Ala missense ANKIB1 101 81992 0.00123183 40996 0 0.00352467
7-92027809-C-T p.Ser939Leu missense ANKIB1 1 81976 1.21987E-5 40988 0 4.02165E-6
7-92027815-C-G p.Pro941Arg missense ANKIB1 1 82030 1.21907E-5 41015 0 NA
7-92027835-G-T p.Asp948Tyr missense ANKIB1 2 82134 2.43505E-5 41067 0 NA
7-92027842-G-C p.Cys950Ser missense ANKIB1 2 82168 2.43404E-5 41084 0 6.36983E-5
7-92027849-A-T p.Ser952Ser synonymous ANKIB1 1 82218 1.21628E-5 41109 0 NA
7-92027853-A-G p.Ser954Gly missense ANKIB1 39 82214 4.74372E-4 41107 0 0.00151057
7-92027862-G-C p.Asp957His missense ANKIB1 1 82204 1.21649E-5 41102 0 8.28597E-6
7-92027864-C-G p.Asp957Glu missense ANKIB1 2 82196 2.43321E-5 41098 0 8.28555E-6
7-92027872-G-A p.Gly960Asp missense ANKIB1 1 82160 1.21714E-5 41080 0 NA
7-92027877-G-C p.Asp962His missense ANKIB1 1 82140 1.21743E-5 41070 0 NA
7-92027884-A-C p.Asn964Thr missense ANKIB1 1 82108 1.21791E-5 41054 0 NA
7-92027888-C-G p.Ile965Met missense ANKIB1 1 82088 1.2182E-5 41044 0 NA
7-92027890-A-G p.Asn966Ser missense ANKIB1 1 82078 1.21835E-5 41039 0 8.04078E-6
7-92027891-T-C p.Asn966Asn synonymous ANKIB1 1 82070 1.21847E-5 41035 0 NA
7-92027902-T-C p.Leu970Pro missense ANKIB1 2 81942 2.44075E-5 40971 0 8.285E-6
7-92027904-G-A p.Gly971Ser missense ANKIB1 1 81918 1.22073E-5 40959 0 3.18552E-5
7-92027906-C-A p.Gly971Gly synonymous ANKIB1 554 81894 0.00676484 40947 21 0.0212613
7-92027934-A-C p.Asn981His missense ANKIB1 1 81702 1.22396E-5 40851 0 NA
7-92027936-C-A p.Asn981Lys missense ANKIB1 25 81682 3.06065E-4 40841 0 6.25E-4
7-92027937-C-T p.Pro982Ser missense ANKIB1 2 81668 2.44894E-5 40834 0 NA
7-92027941-A-C p.Gln983Pro missense ANKIB1 1 81654 1.22468E-5 40827 0 4.02327E-6
7-92027993-G-C p.Gln1000His missense ANKIB1 2 81674 2.44876E-5 40837 0 NA
7-92028000-T-G p.Cys1003Gly missense ANKIB1 1 81764 1.22303E-5 40882 0 NA
7-92028001-G-T p.Cys1003Phe missense ANKIB1 19 81764 2.32376E-4 40882 0 3.18451E-4
7-92028001-G-A p.Cys1003Tyr missense ANKIB1 2 81764 2.44606E-5 40882 0 NA
7-92028005-C-G p.Ile1004Met missense ANKIB1 129 81798 0.00157706 40899 0 0.00219829
7-92028007-A-G p.Lys1005Arg missense ANKIB1 1 81820 1.2222E-5 40910 0 4.02599E-6
7-92028013-G-A p.Gly1007Glu missense ANKIB1 5 81906 6.10456E-5 40953 0 1.32908E-4
7-92028015-T-A p.Ser1008Thr missense ANKIB1 7 81948 8.542E-5 40974 0 6.03962E-5
7-92028022-G-T p.Gly1010Val missense ANKIB1 3 82040 3.65675E-5 41020 0 9.55353E-5
7-92028025-T-C p.Val1011Ala missense ANKIB1 3 82068 3.65551E-5 41034 0 3.18735E-5
7-92028028-A-G p.Lys1012Arg missense ANKIB1 62 82118 7.55011E-4 41059 2 0.005
7-92028031-A-G p.Asp1013Gly missense ANKIB1 11 82166 1.33875E-4 41083 0 7.48503E-5
7-92028033-G-A p.Val1014Met missense ANKIB1 3 82208 3.64928E-5 41104 0 7.48964E-5
7-92028036-G-C p.Glu1015Gln missense ANKIB1 2 82246 2.43173E-5 41123 0 0.00125
7-92028038-A-G p.Glu1015Glu synonymous ANKIB1 1 82268 1.21554E-5 41134 0 NA
7-92028039-C-A p.Leu1016Met missense ANKIB1 40381 81992 0.492499 40996 10215 0.535625
7-92028060-A-G p.Met1023Val missense ANKIB1 66 82350 8.01457E-4 41175 0 4.5957E-4
7-92028068-A-C p.Glu1025Asp missense ANKIB1 1 82384 1.21383E-5 41192 0 NA
7-92028073-C-T p.Ala1027Val missense ANKIB1 1 82376 1.21395E-5 41188 0 NA
7-92028076-G-A p.Ser1028Asn missense ANKIB1 1 82382 1.21386E-5 41191 0 NA
7-92028077-T-C p.Ser1028Ser synonymous ANKIB1 1 82380 1.21389E-5 41190 0 1.79779E-5
7-92028079-T-C p.Val1029Ala missense ANKIB1 4 82378 4.85567E-5 41189 0 5.25045E-5
7-92028081-A-C p.Ser1030Arg missense ANKIB1 1 82376 1.21395E-5 41188 0 8.08172E-6
7-92028093-G-A p.Gly1034Arg missense ANKIB1 1 82378 1.21392E-5 41189 0 NA
7-92028117-T-C p.Leu1042Leu synonymous ANKIB1 1 82344 1.21442E-5 41172 0 3.14921E-5
7-92028136-C-T p.Ala1048Val missense ANKIB1 1 82304 1.21501E-5 41152 0 6.9197E-5
7-92028137-G-A p.Ala1048Ala synonymous ANKIB1 2 82338 2.42901E-5 41169 0 4.31842E-5
7-92028144-G-A p.Ala1051Thr missense ANKIB1 1 82350 1.21433E-5 41175 0 NA
7-92028147-G-C p.Ala1052Pro missense ANKIB1 1 82374 1.21398E-5 41187 0 NA
7-92028165-A-G p.Ser1058Gly missense ANKIB1 3 82434 3.63928E-5 41217 0 1.91119E-4
7-92028165-A-T p.Ser1058Cys missense ANKIB1 1 82434 1.21309E-5 41217 0 3.18532E-5
7-92028173-C-T p.Asn1060Asn synonymous ANKIB1 1 82444 1.21294E-5 41222 0 2.38618E-5
7-92028174-G-A p.Glu1061Lys missense ANKIB1 1 82446 1.21292E-5 41223 0 2.38141E-5
7-92028177-GC-G p.Ala1062fs frameshift ANKIB1 1 82470 1.21256E-5 41235 0 NA
7-92028181-C-T p.Ala1063Val missense ANKIB1 1 82500 1.21212E-5 41250 0 NA
7-92028182-C-T p.Ala1063Ala synonymous ANKIB1 5 82518 6.05928E-5 41259 0 2.40177E-5
7-92028215-A-G p.Gln1074Gln synonymous ANKIB1 4 82502 4.84837E-5 41251 0 2.15287E-5
7-92028221-T-C p.Pro1076Pro synonymous ANKIB1 1 82470 1.21256E-5 41235 0 NA
7-92028222-C-G p.Gln1077Glu missense ANKIB1 34 82462 4.12311E-4 41231 0 0.003125
7-92028224-A-G p.Gln1077Gln synonymous ANKIB1 95 82462 0.00115205 41231 0 0.00197503
7-92028226-C-T p.Thr1078Ile missense ANKIB1 2 82466 2.42524E-5 41233 0 4.39429E-6
7-92028242-T-C p.Leu1083Leu synonymous ANKIB1 1 82380 1.21389E-5 41190 0 6.36821E-5
7-92028251-A-G p.Val1086Val synonymous ANKIB1 2 82202 2.43303E-5 41101 0 3.18451E-5
7-92028258-G-A p.Val1089Met missense ANKIB1 3 82064 3.65568E-5 41032 0 3.18552E-5
7-92028647-TA-T c.*1873delA splice_region ANKIB1 27 3116 0.00866496 1558 1 0.0409883