Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-71205532-C-A c.-244C>A 5_prime_UTR_premature_start_codon_gain ANKRD53 1 16954 5.89831E-5 8477 0 NA
2-71205692-C-T c.-84C>T 5_prime_UTR_premature_start_codon_gain ANKRD53 1 67396 1.48377E-5 33698 0 NA
2-71205744-C-T c.-32C>T 5_prime_UTR_premature_start_codon_gain ANKRD53 409 73634 0.0055545 36817 0 0.0042832
2-71205748-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain ANKRD53 1 73908 1.35303E-5 36954 0 1.88249E-5
2-71205754-G-T c.-22G>T 5_prime_UTR_premature_start_codon_gain ANKRD53 273 74318 0.0036734 37159 6 0.00389222
2-71205777-T-C p.Met1? start_lost ANKRD53 1 75690 1.32118E-5 37845 0 NA
2-71205787-G-A p.Ala4Ala synonymous ANKRD53 1 76192 1.31247E-5 38096 0 2.86825E-5
2-71205795-C-T p.Thr7Ile missense ANKRD53 26 76614 3.39364E-4 38307 0 6.70027E-4
2-71205801-G-A p.Arg9Gln missense ANKRD53 10 76714 1.30354E-4 38357 0 6.9847E-5
2-71205804-G-A p.Arg10Gln missense ANKRD53 1 76796 1.30215E-5 38398 0 NA
2-71205809-G-T p.Gly12Cys missense ANKRD53 1 76718 1.30348E-5 38359 0 NA
2-71205811-C-G p.Gly12Gly synonymous ANKRD53 1 76578 1.30586E-5 38289 0 NA
2-71205839-G-A p.Glu22Lys missense ANKRD53 2 77760 2.57202E-5 38880 0 1.95685E-5
2-71205846-G-C p.Arg24Thr missense ANKRD53 2 77892 2.56766E-5 38946 0 NA
2-71205857-C-T p.Pro28Ser missense ANKRD53 2 77970 2.56509E-5 38985 0 6.21519E-6
2-71205858-C-T p.Pro28Leu missense ANKRD53 1 77976 1.28245E-5 38988 0 NA
2-71205859-G-A p.Pro28Pro synonymous ANKRD53 1 77986 1.28228E-5 38993 0 4.95491E-5
2-71205888-A-C p.Gln38Pro missense ANKRD53 2 78384 2.55154E-5 39192 0 NA
2-71205890-G-C p.Ala39Pro missense ANKRD53 2 78398 2.55109E-5 39199 0 4.17014E-5
2-71205904-C-T p.Ser43Ser synonymous ANKRD53 1 78404 1.27545E-5 39202 0 NA
2-71205908-A-T p.Lys45* stop_gained ANKRD53 1 78320 1.27681E-5 39160 0 5.37334E-6
2-71205909-A-T p.Lys45Met missense ANKRD53 2 78320 2.55363E-5 39160 0 3.19428E-5
2-71205910-G-C p.Lys45Asn missense ANKRD53 3 78304 3.83122E-5 39152 0 NA
2-71205917-T-C p.Trp48Arg missense ANKRD53 1 78166 1.27933E-5 39083 0 NA
2-71205921-CT-C p.Asp50fs frameshift ANKRD53 1 78122 1.28005E-5 39061 0 NA
2-71205923-G-A p.Asp50Asn missense ANKRD53 1 78080 1.28074E-5 39040 0 2.71381E-4
2-71205936-A-G p.Lys54Arg missense ANKRD53 1 77804 1.28528E-5 38902 0 5.77981E-6
2-71205948-G-T c.170+3G>T splice_region ANKRD53 1 77490 1.29049E-5 38745 0 9.57243E-5
2-71206230-GC-G p.Leu60fs frameshift ANKRD53 7 69786 1.00307E-4 34893 0 5.06073E-4
2-71206232-C-T p.Pro59Leu missense ANKRD53 1 70490 1.41864E-5 35245 0 4.47888E-6
2-71206239-C-G p.Pro61Pro synonymous ANKRD53 4 71832 5.56855E-5 35916 0 4.40564E-6
2-71206247-C-T p.Ala64Val missense ANKRD53 1 73190 1.36631E-5 36595 0 0.00125786
2-71206254-C-T p.His66His synonymous ANKRD53 968 74706 0.0129575 37353 20 0.0237048
2-71206254-C-A p.His66Gln missense ANKRD53 3 74776 4.01198E-5 37388 0 1.79904E-4
2-71206267-G-A p.Ala71Thr missense ANKRD53 6618 75268 0.0879258 37634 396 0.136875
2-71206276-C-G p.Leu74Val missense ANKRD53 20 77380 2.58465E-4 38690 0 0.00251762
2-71206278-C-G p.Leu74Leu synonymous ANKRD53 1 77508 1.29019E-5 38754 0 NA
2-71206287-G-C p.Pro77Pro synonymous ANKRD53 14 78084 1.79294E-4 39042 0 2.54907E-4
2-71206287-G-A p.Pro77Pro synonymous ANKRD53 13 78082 1.66492E-4 39041 0 9.65425E-4
2-71206289-G-A p.Arg78His missense ANKRD53 101 78174 0.00129199 39087 0 0.0040282
2-71206291-C-T p.Arg79Cys missense ANKRD53 6 78460 7.64721E-5 39230 0 1.70495E-4
2-71206301-C-T p.Ser82Leu missense ANKRD53 1 79064 1.2648E-5 39532 0 NA
2-71206314-C-T p.Pro86Pro synonymous ANKRD53 1 79604 1.25622E-5 39802 0 4.07774E-6
2-71206316-G-A p.Arg87His missense ANKRD53 4 79544 5.02866E-5 39772 0 9.55901E-5
2-71206324-C-A p.Pro90Thr missense ANKRD53 1 80080 1.24875E-5 40040 0 NA
2-71206329-C-G p.Ser57Arg missense+splice_region ANKRD53 1 80192 1.24701E-5 40096 0 8.62203E-6
2-71206343-CCGACCAGACGGCAAT-C p.Ile101_Ala105del disruptive_inframe_deletion ANKRD53 1 80922 1.23576E-5 40461 0 3.18613E-5
2-71206350-G-A p.Gln98Gln synonymous ANKRD53 1 81282 1.23028E-5 40641 0 6.37186E-5
2-71206350-G-GAC p.Ala100fs frameshift ANKRD53 2 81282 2.46057E-5 40641 0 3.18593E-5
2-71206352-C-G p.Thr99Arg missense ANKRD53 1 81336 1.22947E-5 40668 0 8.50369E-6
2-71206353-G-A p.Thr99Thr synonymous ANKRD53 7 81334 8.60649E-5 40667 0 3.04849E-4
2-71206360-G-C p.Asp102His missense ANKRD53 1 81608 1.22537E-5 40804 0 8.4707E-6
2-71206366-A-ACGGCGAT p.Ser108fs frameshift ANKRD53 5 81816 6.11127E-5 40908 0 3.18959E-5
2-71206367-CGGCGATCG-C p.Ala105fs frameshift ANKRD53 2 81888 2.44236E-5 40944 0 4.00144E-6
2-71206368-G-A p.Thr104Thr synonymous ANKRD53 1 81874 1.22139E-5 40937 0 NA
2-71206370-C-G p.Ala105Gly missense ANKRD53 909 81884 0.0111011 40942 17 0.0195041
2-71206370-C-A p.Ala105Glu missense ANKRD53 1 81892 1.22112E-5 40946 0 NA
2-71206375-G-A p.Gly107Arg missense ANKRD53 2 82162 2.43422E-5 41081 0 1.68574E-5
2-71206384-T-G p.Tyr110Asp missense ANKRD53 40 82434 4.85237E-4 41217 1 0.00251762
2-71206386-C-T p.Tyr110Tyr synonymous ANKRD53 2 82450 2.42571E-5 41225 0 2.79504E-5
2-71206401-G-A p.Ala115Ala synonymous ANKRD53 24 82514 2.9086E-4 41257 0 7.32484E-4
2-71206408-G-A p.Gly118Ser missense ANKRD53 1 82484 1.21236E-5 41242 0 1.19776E-5
2-71206414-G-A p.Val120Met missense ANKRD53 1 82438 1.21303E-5 41219 0 3.99351E-6
2-71206415-T-C p.Val120Ala missense ANKRD53 1 82414 1.21339E-5 41207 0 8.39715E-6
2-71206416-G-C p.Val120Val synonymous ANKRD53 1 82432 1.21312E-5 41216 0 3.1841E-5
2-71206426-C-T p.Arg124* stop_gained ANKRD53 1 82194 1.21663E-5 41097 0 NA
2-71206439-A-C p.Asn128Thr missense ANKRD53 1 82050 1.21877E-5 41025 0 3.18654E-5
2-71206457-TC-T p.Thr136fs frameshift ANKRD53 1 81318 1.22974E-5 40659 0 NA
2-71206463-CCGA-C p.Asp138del conservative_inframe_deletion ANKRD53 1 81160 1.23213E-5 40580 0 3.1839E-5
2-71206464-C-G p.Thr136Thr synonymous ANKRD53 1 81084 1.23329E-5 40542 0 8.02201E-6
2-71206466-AC-A p.Asp137fs frameshift ANKRD53 1 80974 1.23496E-5 40487 0 NA
2-71206468-G-T p.Asp138Tyr missense ANKRD53 2 80916 2.4717E-5 40458 0 2.40828E-5
2-71206468-G-C p.Asp138His missense ANKRD53 1 80916 1.23585E-5 40458 0 NA
2-71206802-C-A p.Ala143Ala synonymous ANKRD53 2 82562 2.42242E-5 41281 0 3.18471E-5
2-71206805-C-T p.Ile144Ile synonymous ANKRD53 1 82586 1.21086E-5 41293 0 3.18451E-5
2-71206811-C-T p.Phe146Phe synonymous ANKRD53 2 82704 2.41826E-5 41352 0 6.3678E-5
2-71206812-G-A p.Ala147Thr missense ANKRD53 1 82700 1.20919E-5 41350 0 0.00100705
2-71206814-C-T p.Ala147Ala synonymous ANKRD53 1 82762 1.20828E-5 41381 0 6.36821E-5
2-71206815-G-A p.Ala148Thr missense ANKRD53 5 82770 6.04084E-5 41385 0 6.29791E-5
2-71206821-T-C p.Trp150Arg missense ANKRD53 2 82894 2.41272E-5 41447 0 NA
2-71206824-G-A p.Gly151Ser missense ANKRD53 1 82902 1.20624E-5 41451 0 NA
2-71206831-T-C p.Leu153Pro missense ANKRD53 1 83036 1.2043E-5 41518 0 NA
2-71206836-T-G p.Cys155Gly missense ANKRD53 1 83074 1.20375E-5 41537 0 NA
2-71206848-C-T p.Leu159Leu synonymous ANKRD53 2 83130 2.40587E-5 41565 0 3.58275E-5
2-71206851-G-A p.Val160Ile missense ANKRD53 9 83138 1.08254E-4 41569 0 3.98064E-5
2-71206868-T-G p.Phe165Leu missense ANKRD53 1 83228 1.20152E-5 41614 0 3.18492E-5
2-71206871-C-T p.Pro166Pro synonymous ANKRD53 1 83228 1.20152E-5 41614 0 8.27499E-6
2-71206880-G-C p.Leu169Leu synonymous ANKRD53 42 83260 5.04444E-4 41630 0 3.50274E-4
2-71206894-G-A p.Ser174Asn missense ANKRD53 3 83282 3.60222E-5 41641 0 3.18451E-5
2-71206911-C-G p.Leu180Val missense ANKRD53 5 83288 6.00327E-5 41644 0 NA
2-71206911-C-T p.Leu180Phe missense ANKRD53 4 83288 4.80261E-5 41644 0 6.36862E-5
2-71206913-C-T p.Leu180Leu synonymous ANKRD53 30 83294 3.6017E-4 41647 0 2.86606E-4
2-71206919-C-G p.Ile182Met missense ANKRD53 1 83280 1.20077E-5 41640 0 NA
2-71206930-A-C p.Asn186Thr missense ANKRD53 1 83276 1.20083E-5 41638 0 9.55779E-5
2-71206937-C-T p.Thr188Thr synonymous ANKRD53 7 83266 8.40679E-5 41633 0 6.37267E-5
2-71206949-C-G p.Pro192Pro synonymous ANKRD53 1 83236 1.2014E-5 41618 0 NA
2-71206955-C-T p.Ile194Ile synonymous ANKRD53 3 83202 3.60568E-5 41601 0 9.55414E-5
2-71206965-CT-C p.Leu198fs frameshift ANKRD53 2 83150 2.40529E-5 41575 0 1.27288E-4
2-71206971-A-T p.Lys200* stop_gained ANKRD53 20 83074 2.40749E-4 41537 1 0.00100806
2-71206976-C-T p.Gly201Gly synonymous ANKRD53 149 83016 0.00179483 41508 0 0.00263619
2-71206977-G-A p.Ala202Thr missense ANKRD53 12 82986 1.44603E-4 41493 0 3.8219E-4
2-71206990-C-G p.Ala206Gly missense+splice_region ANKRD53 2 82722 2.41774E-5 41361 0 1.99125E-5
2-71206990-C-T p.Ala206Val missense+splice_region ANKRD53 2 82722 2.41774E-5 41361 0 5.04541E-4
2-71206991-G-A c.617+1G>A splice_donor ANKRD53 2 82696 2.4185E-5 41348 0 3.18512E-5
2-71209063-C-T c.618-3C>T splice_region ANKRD53 1 81372 1.22892E-5 40686 0 NA
2-71209077-A-G p.Asn210Ser missense ANKRD53 11 81836 1.34415E-4 40918 0 6.38244E-5
2-71209078-C-T p.Asn210Asn synonymous ANKRD53 6 81850 7.33048E-5 40925 0 3.05509E-5
2-71209080-G-A p.Gly211Asp missense ANKRD53 3 81930 3.66166E-5 40965 0 4.30385E-6
2-71209086-C-T p.Thr213Met missense ANKRD53 7 82026 8.53388E-5 41013 0 0.00151362
2-71209088-C-A p.Pro214Thr missense ANKRD53 1 82228 1.21613E-5 41114 0 8.20412E-6
2-71209096-C-T n.564C>T splice_region ANKRD53 1 82408 1.21347E-5 41204 0 NA
2-71209103-G-T p.Ala219Ser missense ANKRD53 1 82512 1.21194E-5 41256 0 6.25E-4
2-71209106-C-T p.Arg220Cys missense ANKRD53 1 82592 1.21077E-5 41296 0 5.04541E-4
2-71209111-C-T p.Asp221Asp synonymous ANKRD53 4 82628 4.84097E-5 41314 0 0.0010101
2-71209112-G-A p.Gly222Ser missense ANKRD53 2 82638 2.42019E-5 41319 0 3.18613E-5
2-71209114-C-T p.Gly222Gly synonymous ANKRD53 2 82698 2.41844E-5 41349 0 8.33736E-6
2-71209141-G-A p.Val231Val synonymous ANKRD53 1 82980 1.20511E-5 41490 0 4.1425E-5
2-71209146-G-A p.Ser233Asn missense ANKRD53 1 83018 1.20456E-5 41509 0 3.98765E-6
2-71209151-G-A p.Ala235Thr missense ANKRD53 4 83024 4.81788E-5 41512 0 0.00100705
2-71209156-C-T p.Asn236Asn synonymous ANKRD53 2 83064 2.40778E-5 41532 0 8.2813E-6
2-71209159-C-T p.Val237Val synonymous ANKRD53 1 83098 1.2034E-5 41549 0 NA
2-71209172-G-A p.Ala242Thr missense ANKRD53 1 83132 1.20291E-5 41566 0 6.25E-4
2-71209176-T-C p.Met243Thr missense ANKRD53 394 83132 0.00473945 41566 11 0.0089849
2-71209198-C-T p.Phe250Phe synonymous ANKRD53 3 83050 3.61228E-5 41525 0 NA
2-71209217-C-T p.Arg257Cys missense ANKRD53 1 82736 1.20866E-5 41368 0 8.59446E-5
2-71209218-G-A p.Arg257His missense ANKRD53 3 82714 3.62696E-5 41357 0 1.72022E-4
2-71209229-C-T p.Arg261Trp missense+splice_region ANKRD53 7 82432 8.49185E-5 41216 0 2.61525E-5
2-71209230-G-A p.Arg261Gln missense+splice_region ANKRD53 2 82384 2.42766E-5 41192 0 3.18918E-5
2-71209236-AGT-A c.782+7_782+8delGT splice_region ANKRD53 3 82184 3.65035E-5 41092 0 6.37877E-5
2-71209699-G-A c.783-8G>A splice_region ANKRD53 1 83316 1.20025E-5 41658 0 3.18532E-5
2-71209712-T-TA p.Lys264fs frameshift ANKRD53 1 83346 1.19982E-5 41673 0 NA
2-71209713-G-A p.Leu263Leu synonymous ANKRD53 309 83348 0.00370735 41674 0 0.00551082
2-71209725-G-A p.Met267Ile missense ANKRD53 1 83356 1.19967E-5 41678 0 NA
2-71209732-A-T p.Lys270* stop_gained ANKRD53 2 83358 2.39929E-5 41679 0 NA
2-71209739-A-C p.Lys272Thr missense ANKRD53 4 83356 4.79869E-5 41678 0 NA
2-71209751-C-T p.Ala276Val missense ANKRD53 1 83362 1.19959E-5 41681 0 3.18674E-5
2-71209753-C-T p.Arg277Cys missense ANKRD53 1 83362 1.19959E-5 41681 0 0.00100806
2-71209754-G-A p.Arg277His missense ANKRD53 2 83364 2.39912E-5 41682 0 1.98848E-5
2-71209763-C-T p.Thr280Met missense ANKRD53 5 83356 5.99837E-5 41678 0 3.977E-5
2-71209782-G-A p.Lys286Lys synonymous ANKRD53 4 83340 4.79962E-5 41670 0 NA
2-71209783-A-G p.Ser287Gly missense ANKRD53 2 83338 2.39987E-5 41669 0 NA
2-71209789-C-A p.Leu289Met missense ANKRD53 2 83306 2.40079E-5 41653 0 3.97735E-6
2-71209795-C-T p.Leu291Phe missense ANKRD53 21 83294 2.52119E-4 41647 0 7.55744E-5
2-71209799-T-C p.Met292Thr missense ANKRD53 3 83276 3.60248E-5 41638 0 1.43191E-4
2-71209801-G-T p.Glu293* stop_gained ANKRD53 2 83256 2.40223E-5 41628 0 NA
2-71209815-G-A p.Leu297Leu synonymous ANKRD53 2 83184 2.40431E-5 41592 0 NA
2-71209827-A-G p.Gln301Gln splice_region+synonymous ANKRD53 2 83060 2.4079E-5 41530 1 2.48661E-5
2-71209832-G-A c.903+5G>A splice_region ANKRD53 8 82944 9.64506E-5 41472 0 1.32842E-4
2-71209832-GGGGGACAGCAGGGGGGCCA-G c.903+6_903+24delGGGGACAGCAGGGGGGCCA splice_region ANKRD53 7 82944 8.43943E-5 41472 0 6.37064E-5
2-71211245-C-T c.904-8C>T splice_region ANKRD53 4 83226 4.80619E-5 41613 0 3.29603E-5
2-71211267-T-C p.Ser306Ser synonymous ANKRD53 1 83312 1.20031E-5 41656 0 1.64731E-5
2-71211270-G-A p.Val307Val synonymous ANKRD53 1 83322 1.20016E-5 41661 0 NA
2-71211276-C-T p.Phe309Phe synonymous ANKRD53 2 83322 2.40033E-5 41661 0 1.19292E-5
2-71211278-CA-C p.Phe311fs frameshift ANKRD53 2 83328 2.40015E-5 41664 0 NA
2-71211283-G-T p.Ala312Ser missense ANKRD53 2 83336 2.39992E-5 41668 0 NA
2-71211284-C-G p.Ala312Gly missense ANKRD53 1 83336 1.19996E-5 41668 0 7.95267E-6
2-71211286-T-C p.Phe313Leu missense ANKRD53 4 83332 4.80008E-5 41666 0 NA
2-71211289-T-C p.Ser314Pro missense ANKRD53 1 83334 1.19999E-5 41667 0 6.25E-4
2-71211291-C-T p.Ser314Ser synonymous ANKRD53 27 83336 3.2399E-4 41668 1 0.0040282
2-71211293-C-A p.Pro315His missense ANKRD53 2 83340 2.39981E-5 41670 0 NA
2-71211301-C-A p.Pro318Thr missense ANKRD53 1 83344 1.19985E-5 41672 0 3.97627E-6
2-71211307-ACT-A p.Leu321fs frameshift ANKRD53 2 83342 2.39975E-5 41671 0 3.9763E-6
2-71211318-G-A p.Trp323* stop_gained ANKRD53 1 83348 1.19979E-5 41674 0 2.47093E-5
2-71211319-C-T p.Gln324* stop_gained ANKRD53 2 83350 2.39952E-5 41675 0 NA
2-71211320-A-G p.Gln324Arg missense ANKRD53 1 83354 1.1997E-5 41677 0 1.64753E-5
2-71211329-C-G p.Ser327Cys missense ANKRD53 2 83354 2.3994E-5 41677 0 3.9763E-6
2-71211341-A-C p.Asp331Ala missense ANKRD53 1 83344 1.19985E-5 41672 0 NA
2-71211347-G-A p.Gly333Glu missense ANKRD53 1 83344 1.19985E-5 41672 0 NA
2-71211357-GAGA-G p.Arg339del disruptive_inframe_deletion ANKRD53 1 83336 1.19996E-5 41668 0 1.64731E-5
2-71211381-T-C c.1030+2T>C splice_donor ANKRD53 9 83296 1.08048E-4 41648 0 2.88284E-4
2-71211383-A-G c.1030+4A>G splice_region ANKRD53 3 83300 3.60144E-5 41650 0 NA
2-71211384-G-T c.1030+5G>T splice_region ANKRD53 3 83298 3.60153E-5 41649 0 7.95323E-6
2-71211738-CAGAA-C p.Ter344fs frameshift ANKRD53 1 82824 1.20738E-5 41412 0 8.35157E-6
2-71211747-C-G p.His304Asp missense ANKRD53 4 82942 4.82265E-5 41471 0 6.25782E-4
2-71211751-A-C p.Lys305Thr missense ANKRD53 169 82964 0.00203703 41482 0 0.00468362
2-71211753-A-G p.Ile306Val missense ANKRD53 1 83010 1.20467E-5 41505 0 NA
2-71211765-G-A p.Ala310Thr missense ANKRD53 3 83100 3.61011E-5 41550 0 3.58929E-5
2-71211767-TGC-AGA p.AlaAla310AlaAsp missense ANKRD53 2 83148 2.40535E-5 41574 0 NA
2-71211772-T-C p.Ile312Thr missense ANKRD53 1 83156 1.20256E-5 41578 0 NA
2-71211788-C-T p.His317His synonymous ANKRD53 76 83116 9.14385E-4 41558 0 0.00143358
2-71211800-C-A p.His321Gln missense ANKRD53 4 83110 4.8129E-5 41555 0 2.7862E-5
2-71211806-C-T p.Gly323Gly synonymous ANKRD53 1 83108 1.20325E-5 41554 0 NA
2-71211809-C-T p.His324His synonymous ANKRD53 312 83092 0.00375487 41546 8 0.029708
2-71211814-T-C p.Leu326Pro missense ANKRD53 1 83122 1.20305E-5 41561 0 8.46468E-6
2-71211815-G-A p.Leu326Leu synonymous ANKRD53 15664 82866 0.189028 41433 1553 0.174509
2-71211828-A-G p.Lys331Glu missense ANKRD53 3 83106 3.60985E-5 41553 0 4.00519E-6
2-71211833-AGCCCGGGCCACC-A p.Arg334_Ala337del disruptive_inframe_deletion ANKRD53 11 83066 1.32425E-4 41533 0 9.02778E-4
2-71211835-C-T p.Ala333Val missense ANKRD53 1 83056 1.20401E-5 41528 0 3.1841E-5
2-71211837-C-T p.Arg334Trp missense ANKRD53 2 83052 2.40813E-5 41526 0 3.18431E-5
2-71211840-G-A p.Ala335Thr missense ANKRD53 2 83020 2.40906E-5 41510 1 6.32658E-5
2-71211843-A-G p.Thr336Ala missense ANKRD53 1 83008 1.2047E-5 41504 0 NA
2-71211845-C-A p.Thr336Thr synonymous ANKRD53 20 83028 2.40883E-4 41514 0 2.22435E-4
2-71211850-T-A p.Leu338His missense ANKRD53 3 83040 3.61272E-5 41520 0 9.56511E-5
2-71211860-C-T p.Thr341Thr synonymous ANKRD53 4 83008 4.81881E-5 41504 1 5.04541E-4
2-71211870-C-T p.Arg345Trp missense ANKRD53 9 83010 1.08421E-4 41505 0 2.53187E-4
2-71211871-G-A p.Arg345Gln missense ANKRD53 23 83014 2.77062E-4 41507 0 5.41367E-4
2-71211878-G-A p.Ser347Ser synonymous ANKRD53 8 83006 9.63786E-5 41503 0 1.03914E-4
2-71211878-G-C p.Ser347Ser synonymous ANKRD53 2 83006 2.40946E-5 41503 0 NA
2-71211883-G-T p.Arg349Leu missense ANKRD53 1103 82984 0.0132917 41492 10 0.0247014
2-71211883-G-A p.Arg349His missense ANKRD53 11 82998 1.32533E-4 41499 0 0.00328704
2-71211892-G-C p.Ser352Thr missense ANKRD53 1 82964 1.20534E-5 41482 0 NA
2-71211898-A-G p.His354Arg missense ANKRD53 1 82908 1.20616E-5 41454 0 7.16269E-5
2-71211900-C-T p.Pro355Ser missense ANKRD53 1 82956 1.20546E-5 41478 0 2.73868E-5
2-71211902-C-T p.Pro355Pro synonymous ANKRD53 3 82962 3.61611E-5 41481 0 9.55779E-5
2-71211905-T-G p.Ser356Ser synonymous ANKRD53 1 82920 1.20598E-5 41460 0 NA
2-71211911-T-G p.Asp358Glu missense ANKRD53 1 82902 1.20624E-5 41451 0 NA
2-71211915-C-T p.Arg360Cys missense ANKRD53 1 82870 1.20671E-5 41435 0 3.45018E-5
2-71211941-G-A p.Thr368Thr synonymous ANKRD53 6 82682 7.25672E-5 41341 0 1.59622E-4
2-71211946-TGCCCAA-T p.Lys372_Pro373del disruptive_inframe_deletion ANKRD53 486 82638 0.00588107 41319 8 0.0138021
2-71211949-C-G p.Pro371Arg missense ANKRD53 14 82606 1.69479E-4 41303 0 1.27462E-4
2-71211964-G-C p.Arg376Thr missense ANKRD53 1 82418 1.21333E-5 41209 0 1.91071E-4
2-71211981-C-T p.Arg382Trp missense ANKRD53 1 81996 1.21957E-5 40998 0 NA
2-71211982-G-A p.Arg382Gln missense ANKRD53 2 81970 2.43992E-5 40985 0 4.56288E-5
2-71211987-A-G p.Thr384Ala missense ANKRD53 1 81860 1.2216E-5 40930 0 6.37089E-6
2-71211989-A-G p.Thr384Thr synonymous ANKRD53 52267 81392 0.642164 40696 17062 0.73
2-71211991-T-C p.Met385Thr missense ANKRD53 1 81760 1.22309E-5 40880 0 NA
2-71211995-G-A p.Trp386* stop_gained ANKRD53 2 81614 2.45056E-5 40807 0 6.25E-4
2-71212009-A-AC p.Ala393fs frameshift ANKRD53 2 80906 2.472E-5 40453 0 0.0015528
2-71212011-C-T p.Pro392Ser missense ANKRD53 3 81168 3.69604E-5 40584 0 5.02058E-4
2-71212014-GCCAGACCCCCCACCAC-G p.Pro395fs frameshift ANKRD53 1 81060 1.23365E-5 40530 0 NA
2-71212021-CCCCCACCA-C p.Thr397fs frameshift ANKRD53 1 81026 1.23417E-5 40513 0 NA
2-71212022-C-T p.Pro395Pro synonymous ANKRD53 2 80970 2.47005E-5 40485 0 NA
2-71212032-C-T p.Gln399* stop_gained ANKRD53 1 81020 1.23426E-5 40510 0 NA
2-71212046-G-T p.Ser403Ser synonymous ANKRD53 4 81078 4.93352E-5 40539 0 8.30565E-4
2-71212052-C-G p.Gly405Gly synonymous ANKRD53 2 81104 2.46597E-5 40552 0 NA
2-71212057-G-A p.Arg407His missense ANKRD53 9 81088 1.10991E-4 40544 0 6.37227E-5
2-71212061-G-C p.Leu408Leu synonymous ANKRD53 4 81134 4.93012E-5 40567 0 3.88128E-5
2-71212064-C-T p.Gly409Gly synonymous ANKRD53 5 81102 6.16508E-5 40551 0 1.27453E-4
2-71212065-G-A p.Val410Met missense ANKRD53 3 81112 3.69859E-5 40556 0 3.23562E-5
2-71212066-T-C p.Val410Ala missense ANKRD53 1 81120 1.23274E-5 40560 0 NA
2-71212075-AC-A p.Thr415fs frameshift ANKRD53 1 81098 1.23308E-5 40549 0 NA
2-71212076-C-G p.Asp413Glu missense ANKRD53 5 81124 6.1634E-5 40562 0 6.37105E-5
2-71212082-TCCGGAGCACGA-T p.Pro416fs frameshift ANKRD53 2 81070 2.467E-5 40535 0 5.43951E-5
2-71212084-C-T p.Pro416Leu missense ANKRD53 1 81124 1.23268E-5 40562 0 1.10236E-4
2-71212085-G-A p.Pro416Pro synonymous ANKRD53 4 81104 4.93194E-5 40552 0 3.18593E-5
2-71212091-C-T p.His418His synonymous ANKRD53 5 81036 6.1701E-5 40518 0 1.64276E-4
2-71212092-G-A p.Asp419Asn missense ANKRD53 1 81032 1.23408E-5 40516 0 5.48246E-5
2-71212100-CA-C p.Ser422fs frameshift ANKRD53 1 80982 1.23484E-5 40491 0 NA
2-71212106-C-T p.Phe423Phe synonymous ANKRD53 1 80894 1.23619E-5 40447 0 NA
2-71212112-G-A p.Glu425Glu synonymous ANKRD53 1 80854 1.2368E-5 40427 0 6.54707E-6
2-71212125-G-A p.Gly430Arg missense ANKRD53 1 80686 1.23937E-5 40343 0 NA
2-71212126-G-C p.Gly430Ala missense ANKRD53 1 80668 1.23965E-5 40334 0 NA
2-71212129-A-T p.His431Leu missense ANKRD53 15276 80402 0.189995 40201 1531 0.178497
2-71212130-C-T p.His431His synonymous ANKRD53 5994 80500 0.0744596 40250 355 0.1475
2-71212131-G-A p.Gly432Ser missense ANKRD53 1 80558 1.24134E-5 40279 0 4.64043E-5
2-71212133-C-T p.Gly432Gly synonymous ANKRD53 5 80510 6.21041E-5 40255 0 6.05107E-5
2-71212139-G-A p.Ala434Ala synonymous ANKRD53 2 80330 2.48973E-5 40165 0 6.06355E-5
2-71212141-G-A p.Arg435Gln missense ANKRD53 4 80362 4.97748E-5 40181 0 1.98797E-5
2-71212150-C-T p.Thr438Ile missense ANKRD53 14 80372 1.7419E-4 40186 0 6.07829E-5
2-71212151-A-G p.Thr438Thr synonymous ANKRD53 1 80354 1.24449E-5 40177 0 NA
2-71212153-T-C p.Val439Ala missense ANKRD53 1 80360 1.2444E-5 40180 0 6.61813E-6
2-71212164-T-C p.Trp443Arg missense ANKRD53 4 80332 4.97934E-5 40166 0 3.18613E-5
2-71212170-G-T p.Ala445Ser missense ANKRD53 1 80330 1.24486E-5 40165 0 NA
2-71212171-C-T p.Ala445Val missense ANKRD53 1 80346 1.24462E-5 40173 0 0.00213675
2-71212175-C-T p.Pro446Pro synonymous ANKRD53 2 80454 2.48589E-5 40227 0 1.31778E-5
2-71212176-G-A p.Val447Met missense ANKRD53 5 80398 6.21906E-5 40199 0 0.0021322
2-71212181-G-A p.Pro448Pro synonymous ANKRD53 23 80414 2.8602E-4 40207 0 0.00537507
2-71212183-G-A p.Arg449Gln missense ANKRD53 4 80502 4.96882E-5 40251 0 1.31093E-5
2-71212186-T-C p.Leu450Pro missense ANKRD53 4 80524 4.96746E-5 40262 0 1.30729E-5
2-71212203-C-T p.Leu456Leu synonymous ANKRD53 10 80704 1.2391E-4 40352 0 2.59767E-5
2-71212221-C-G p.Arg462Gly missense ANKRD53 1 80954 1.23527E-5 40477 0 6.45828E-6
2-71212223-T-G p.Arg462Arg synonymous ANKRD53 4 81000 4.93827E-5 40500 0 1.05341E-4
2-71212229-G-A p.Trp464* stop_gained ANKRD53 2 81142 2.46481E-5 40571 0 4.15369E-4
2-71212245-G-A p.Val470Met missense ANKRD53 10 81516 1.22675E-4 40758 0 6.37267E-5
2-71212264-C-A p.Pro476His missense ANKRD53 1 81942 1.22038E-5 40971 0 1.28559E-5
2-71212267-T-A p.Ile477Asn missense ANKRD53 1 81968 1.21999E-5 40984 0 NA
2-71212273-T-C p.Met479Thr missense ANKRD53 3 82030 3.6572E-5 41015 0 6.37064E-5
2-71212277-G-C p.Arg480Ser missense ANKRD53 2 82072 2.43688E-5 41036 0 1.28502E-5
2-71212287-A-G p.Arg484Gly missense ANKRD53 1 82126 1.21764E-5 41063 0 NA
2-71212293-C-T p.Arg486Trp missense ANKRD53 395 82124 0.0048098 41062 5 0.01026
2-71212294-G-C p.Arg486Pro missense ANKRD53 1 82150 1.21729E-5 41075 0 NA
2-71212300-T-G p.Leu488Arg missense ANKRD53 112 82164 0.00136313 41082 1 0.00332594
2-71212303-G-T p.Gly489Val missense ANKRD53 1 82158 1.21717E-5 41079 0 4.88377E-5
2-71212305-G-A p.Asp490Asn missense ANKRD53 1 82146 1.21734E-5 41073 0 1.28385E-5
2-71212309-A-T p.Asn491Ile missense ANKRD53 1 82152 1.21726E-5 41076 0 1.28304E-5
2-71212313-C-T p.Thr492Thr synonymous ANKRD53 1 82150 1.21729E-5 41075 0 NA
2-71212322-C-T p.Thr495Thr synonymous ANKRD53 10 82092 1.21815E-4 41046 0 0.00112129
2-71212323-G-A p.Asp496Asn missense ANKRD53 1 82100 1.21803E-5 41050 0 NA
2-71212325-C-A p.Asp496Glu missense ANKRD53 1 82082 1.21829E-5 41041 0 4.8605E-5
2-71212335-A-G p.Met500Val missense ANKRD53 2 82002 2.43896E-5 41001 0 NA
2-71212336-T-C p.Met500Thr missense ANKRD53 622 81980 0.00758722 40990 5 0.0144032
2-71212343-G-T p.Leu502Leu synonymous ANKRD53 12 81894 1.46531E-4 40947 0 8.29981E-5
2-71212355-C-T p.Phe506Phe synonymous ANKRD53 6 81632 7.35006E-5 40816 0 7.02462E-5
2-71212355-C-A p.Phe506Leu missense ANKRD53 2 81632 2.45002E-5 40816 0 4.86571E-5
2-71212356-G-A p.Asp507Asn missense ANKRD53 4 81570 4.90376E-5 40785 0 1.27737E-5
2-71212365-T-C p.Phe510Leu missense ANKRD53 43 81316 5.28801E-4 40658 0 3.427E-4
2-71212375-C-T p.Ala513Val missense ANKRD53 5 80972 6.17497E-5 40486 0 0.00167769
2-71212380-C-A p.Arg515Arg synonymous ANKRD53 1495 80724 0.0185199 40362 70 0.0371563
2-71212380-C-T p.Arg515* stop_gained ANKRD53 2 80766 2.47629E-5 40383 0 1.28286E-5
2-71212381-G-A p.Arg515Gln missense ANKRD53 76 80742 9.4127E-4 40371 0 0.00339883
2-71212393-G-C p.Gly519Ala missense ANKRD53 10 80266 1.24586E-4 40133 0 9.56328E-5
2-71212402-C-A p.Thr522Asn missense ANKRD53 5 79948 6.25407E-5 39974 0 3.04744E-4
2-71212403-C-G p.Thr522Thr synonymous ANKRD53 1 79940 1.25094E-5 39970 0 NA
2-71212404-C-T p.Leu523Leu synonymous ANKRD53 1 79916 1.25131E-5 39958 0 NA
2-71212405-T-C p.Leu523Pro missense ANKRD53 13366 76952 0.173693 38476 852 0.173282
2-71212406-G-GCCC p.Pro524dup conservative_inframe_insertion ANKRD53 1 79670 1.25518E-5 39835 0 3.34091E-5
2-71212406-G-A p.Leu523Leu synonymous ANKRD53 1 79770 1.2536E-5 39885 0 NA
2-71212410-T-C p.Ser525Pro missense ANKRD53 1 79220 1.26231E-5 39610 0 3.04589E-4
2-71212412-C-T p.Ser525Ser synonymous ANKRD53 3 79682 3.76497E-5 39841 0 NA
2-71212418-A-T p.Gln527His missense ANKRD53 5 79612 6.28046E-5 39806 0 1.30738E-5
2-71212423-A-G p.Asn529Ser missense ANKRD53 4 79470 5.03335E-5 39735 0 NA
2-71212423-AC-A p.Pro530fs frameshift ANKRD53 1 79470 1.25834E-5 39735 0 6.56357E-6
2-71212427-A-G p.Pro530Pro synonymous ANKRD53 2 79378 2.51959E-5 39689 0 6.57531E-6
2-71212467-G-C c.*37G>C splice_region ANKRD53 2 78402 2.55096E-5 39201 0 4.32601E-4
2-71212468-T-C c.*38T>C splice_region ANKRD53 1 78372 1.27597E-5 39186 0 NA
2-71212469-G-A c.*39G>A splice_region ANKRD53 7 78356 8.93359E-5 39178 0 0.00125471
2-71212579-A-G c.*837A>G splice_region ANKRD53 19 62668 3.03185E-4 31334 0 1.91498E-4
2-71212623-C-CA c.*881_*882insA splice_region ANKRD53 2 41098 4.86642E-5 20549 0 NA
2-71212624-C-CCG c.*883_*884insGC splice_region ANKRD53 2 40748 4.90822E-5 20374 0 1.27527E-4