Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-173579285-C-A p.Ter267Leuext*? stop_lost ANKRD45 3 82156 3.65159E-5 41078 0 4.94258E-5
1-173579304-G-C p.Gln261Glu missense ANKRD45 1 82190 1.21669E-5 41095 0 NA
1-173579323-G-A p.Ser254Ser synonymous ANKRD45 2 82020 2.43843E-5 41010 0 NA
1-173579327-G-A p.Thr253Ile missense ANKRD45 5 81970 6.09979E-5 40985 0 1.91046E-4
1-173579334-A-G p.Ser251Pro missense ANKRD45 1 81874 1.22139E-5 40937 0 NA
1-173579342-C-A p.Ser248Ile missense ANKRD45 1 81640 1.22489E-5 40820 0 4.01484E-6
1-173579357-G-T c.731-3C>A splice_region ANKRD45 4 81332 4.91811E-5 40666 0 1.91071E-4
1-173593926-A-G p.Cys244Arg missense+splice_region ANKRD45 1 82724 1.20884E-5 41362 0 4.01252E-6
1-173593950-T-C p.Ile236Val missense ANKRD45 2 82756 2.41674E-5 41378 0 NA
1-173593959-C-A p.Val233Leu missense ANKRD45 3 82730 3.62625E-5 41365 0 1.65284E-5
1-173593961-A-G p.Ile232Thr missense ANKRD45 2 82734 2.41739E-5 41367 0 3.18451E-5
1-173593968-C-T p.Glu230Lys missense ANKRD45 2 82746 2.41704E-5 41373 0 3.98464E-6
1-173593978-T-C p.Arg226Arg synonymous ANKRD45 9 82762 1.08746E-4 41381 0 9.55231E-5
1-173593982-T-C p.Gln225Arg missense ANKRD45 1 82782 1.20799E-5 41391 0 NA
1-173593988-A-T p.Phe223Tyr missense ANKRD45 1 82806 1.20764E-5 41403 0 NA
1-173593995-C-T p.Glu221Lys missense ANKRD45 1 82848 1.20703E-5 41424 0 4.12739E-5
1-173594022-C-T p.Glu212Lys missense ANKRD45 293 82924 0.00353336 41462 1 0.00372635
1-173594043-G-A p.Arg205Cys missense ANKRD45 16 82886 1.93036E-4 41443 0 2.62969E-4
1-173594052-T-C p.Ser202Gly missense ANKRD45 2 82904 2.41243E-5 41452 0 NA
1-173594070-G-A c.592-6C>T splice_region ANKRD45 1 82770 1.20817E-5 41385 0 NA
1-173596204-C-G p.Lys197Asn missense+splice_region ANKRD45 1 81938 1.22043E-5 40969 0 7.98588E-6
1-173596210-T-C p.Glu195Glu synonymous ANKRD45 1 82080 1.21832E-5 41040 0 NA
1-173596227-C-T p.Gly190Arg missense ANKRD45 2 82330 2.42925E-5 41165 0 NA
1-173596239-C-T p.Glu186Lys missense ANKRD45 1 82396 1.21365E-5 41198 0 NA
1-173596257-A-T p.Leu180Ile missense ANKRD45 6464 82264 0.0785763 41132 1430 0.163643
1-173596257-A-C p.Leu180Val missense ANKRD45 1 82388 1.21377E-5 41194 0 NA
1-173596271-A-G p.Ile175Thr missense ANKRD45 1 82334 1.21457E-5 41167 0 NA
1-173596273-A-G p.Tyr174Tyr synonymous ANKRD45 6429 82116 0.0782917 41058 1424 0.163183
1-173596281-T-C p.Lys172Glu missense ANKRD45 1 82190 1.21669E-5 41095 0 3.98518E-6
1-173616001-T-C p.Glu160Glu synonymous ANKRD45 2 83240 2.40269E-5 41620 0 NA
1-173616025-T-C p.Arg152Arg synonymous ANKRD45 1 83304 1.20042E-5 41652 0 3.97753E-6
1-173616040-T-C p.Arg147Arg synonymous ANKRD45 1 83302 1.20045E-5 41651 0 NA
1-173616047-C-T p.Arg145Lys missense ANKRD45 7 83298 8.40356E-5 41649 0 4.11936E-5
1-173616050-T-C p.Glu144Gly missense ANKRD45 1 83294 1.20057E-5 41647 0 6.3678E-5
1-173616056-C-T p.Arg142Gln missense ANKRD45 3 83274 3.60256E-5 41637 0 6.3678E-5
1-173616057-G-A p.Arg142Trp missense ANKRD45 21 83274 2.5218E-4 41637 0 0.00100705
1-173616074-A-G p.Ile136Thr missense ANKRD45 3 83278 3.60239E-5 41639 0 1.59148E-5
1-173616075-TATCAAC-T p.Val134_Asp135del conservative_inframe_deletion ANKRD45 8 83276 9.60661E-5 41638 0 1.59236E-4
1-173616075-T-C p.Ile136Val missense ANKRD45 1 83276 1.20083E-5 41638 0 NA
1-173616085-C-G p.Leu132Leu synonymous ANKRD45 1 83256 1.20111E-5 41628 0 NA
1-173616094-C-G p.Leu129Leu synonymous ANKRD45 2 83250 2.4024E-5 41625 0 NA
1-173616096-G-C p.Leu129Val missense ANKRD45 56 83254 6.7264E-4 41627 1 0.00178658
1-173616099-C-T p.Ala128Thr missense ANKRD45 2 83250 2.4024E-5 41625 0 8.2409E-6
1-173616116-C-T p.Arg122His missense ANKRD45 2 83200 2.40385E-5 41600 0 3.18593E-5
1-173616122-C-T p.Trp120* stop_gained ANKRD45 1 83166 1.20241E-5 41583 0 NA
1-173616123-A-C p.Trp120Gly missense ANKRD45 1 83166 1.20241E-5 41583 0 NA
1-173616136-A-G p.His115His synonymous ANKRD45 1 83100 1.20337E-5 41550 0 8.253E-6
1-173616137-T-C p.His115Arg missense ANKRD45 2 83092 2.40697E-5 41546 0 NA
1-173616140-A-G p.Leu114Ser missense ANKRD45 4 83064 4.81556E-5 41532 0 NA
1-173616141-A-G p.Leu114Leu synonymous ANKRD45 3 83050 3.61228E-5 41525 0 3.98305E-6
1-173616146-G-A p.Thr112Ile missense ANKRD45 1 83006 1.20473E-5 41503 0 NA
1-173616150-AC-A p.Tyr111fs frameshift ANKRD45 2 82948 2.41115E-5 41474 0 NA
1-173626764-CT-C n.1824delA splice_region ANKRD45 1 58 0.0172414 29 0 NA
1-173626764-C-CTTTTTTT n.1818_1824dupAAAAAAA splice_region ANKRD45 3 60 0.05 30 1 NA
1-173626764-C-CTTTTTT n.1819_1824dupAAAAAA splice_region ANKRD45 1 60 0.0166667 30 0 NA
1-173628222-C-A c.328+8G>T splice_region ANKRD45 2 82874 2.4133E-5 41437 0 NA
1-173628250-A-G p.Leu103Pro missense ANKRD45 3 83028 3.61324E-5 41514 0 4.01942E-6
1-173628251-G-A p.Leu103Leu synonymous ANKRD45 1 83028 1.20441E-5 41514 0 NA
1-173628261-A-G p.Tyr99Tyr synonymous ANKRD45 13 83070 1.56495E-4 41535 0 0.00201613
1-173628289-C-T p.Ser90Asn missense ANKRD45 1 83130 1.20294E-5 41565 0 3.18451E-5
1-173628292-T-G p.Gln89Pro missense ANKRD45 1 83126 1.20299E-5 41563 0 NA
1-173628301-A-C p.Met86Arg missense ANKRD45 1 83118 1.20311E-5 41559 0 NA
1-173628301-A-G p.Met86Thr missense ANKRD45 2 83118 2.40622E-5 41559 0 NA
1-173628302-T-C p.Met86Val missense ANKRD45 2 83118 2.40622E-5 41559 0 1.91058E-4
1-173628313-T-A p.Tyr82Phe missense ANKRD45 1 83132 1.20291E-5 41566 0 NA
1-173628316-A-G p.Leu81Ser missense ANKRD45 1 83142 1.20276E-5 41571 0 3.98004E-6
1-173628322-T-C p.Asn79Ser missense ANKRD45 4 83134 4.81151E-5 41567 0 4.37759E-5
1-173628328-C-A p.Gly77Val missense ANKRD45 1 83126 1.20299E-5 41563 0 4.11909E-5
1-173628332-C-A p.Val76Phe missense ANKRD45 1 83126 1.20299E-5 41563 0 NA
1-173628333-G-A p.Ile75Ile synonymous ANKRD45 4 83116 4.81255E-5 41558 0 6.37308E-5
1-173628353-G-A p.Leu69Phe missense ANKRD45 3 83176 3.60681E-5 41588 0 1.27413E-4
1-173628404-G-T p.Gln52Lys missense ANKRD45 1 83258 1.20109E-5 41629 0 3.98026E-6
1-173628410-C-T p.Gly50Ser missense ANKRD45 10 83268 1.20094E-4 41634 0 3.32768E-5
1-173628410-C-G p.Gly50Arg missense ANKRD45 1 83268 1.20094E-5 41634 0 NA
1-173628418-TC-T p.Asp47fs frameshift ANKRD45 2 83284 2.40142E-5 41642 0 NA
1-173628422-C-G p.Gly46Arg missense ANKRD45 1 83280 1.20077E-5 41640 0 NA
1-173628438-T-C p.Leu40Leu synonymous ANKRD45 1 83292 1.2006E-5 41646 0 NA
1-173628446-G-A p.Pro38Ser missense ANKRD45 10 83294 1.20057E-4 41647 0 1.52253E-4
1-173628456-GC-G p.Gly34fs frameshift ANKRD45 1 83288 1.20065E-5 41644 0 NA
1-173628461-T-G p.Thr33Pro missense ANKRD45 1 83296 1.20054E-5 41648 0 6.37064E-5
1-173628478-GCTT-G p.Glu26del disruptive_inframe_deletion ANKRD45 2 83286 2.40136E-5 41643 0 2.57158E-5
1-173628481-T-G p.Glu26Ala missense ANKRD45 1 83286 1.20068E-5 41643 0 1.71168E-5
1-173628486-T-A p.Glu24Asp missense ANKRD45 1 83296 1.20054E-5 41648 0 NA
1-173628490-T-A p.Glu23Val missense ANKRD45 2 83294 2.40113E-5 41647 0 NA
1-173628492-A-C p.Asn22Lys missense ANKRD45 2 83288 2.40131E-5 41644 0 5.64553E-5
1-173628509-G-T p.Gln17Lys missense ANKRD45 35 83274 4.20299E-4 41637 1 8.60585E-4
1-173628509-G-C p.Gln17Glu missense ANKRD45 1 83274 1.20085E-5 41637 0 3.18735E-5
1-173628513-G-GA p.Ser16fs frameshift ANKRD45 2 83252 2.40234E-5 41626 1 NA
1-173628528-C-G p.Glu10Asp missense ANKRD45 16 83236 1.92225E-4 41618 0 1.30091E-4
1-173628528-C-T p.Glu10Glu synonymous ANKRD45 1 83236 1.2014E-5 41618 0 NA
1-173628536-C-G p.Glu8Gln missense ANKRD45 129 83186 0.00155074 41593 1 0.00312221
1-173628539-G-A p.Pro7Ser missense ANKRD45 1 83138 1.20282E-5 41569 0 NA
1-173628546-T-A p.Glu4Asp missense ANKRD45 312 82958 0.00376094 41479 2 0.00831475
1-173628556-A-G p.Met1? start_lost ANKRD45 1 82688 1.20937E-5 41344 0 1.77914E-5
1-173628573-C-T c.-15-1G>A splice_acceptor ANKRD45 1 82030 1.21907E-5 41015 0 1.82658E-5
1-173638963-G-A c.-23C>T 5_prime_UTR_premature_start_codon_gain ANKRD45 1 46822 2.13575E-5 23411 0 3.18817E-5
1-173638970-G-A c.-30C>T 5_prime_UTR_premature_start_codon_gain ANKRD45 320 46830 0.00683323 23415 5 0.0148259
1-173638987-T-C c.-47A>G 5_prime_UTR_premature_start_codon_gain ANKRD45 56 46878 0.00119459 23439 0 6.27353E-4