Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-148651464-C-T c.-68C>T 5_prime_UTR_premature_start_codon_gain AFAP1L1 1 29216 3.42278E-5 14608 0 NA
5-148651478-C-T c.-54C>T 5_prime_UTR_premature_start_codon_gain AFAP1L1 1 30162 3.31543E-5 15081 0 NA
5-148651510-C-G c.-22C>G 5_prime_UTR_premature_start_codon_gain AFAP1L1 1 31608 3.16376E-5 15804 0 NA
5-148679067-C-T c.17-5C>T splice_region AFAP1L1 2 82738 2.41727E-5 41369 0 3.9874E-5
5-148679068-G-A c.17-4G>A splice_region AFAP1L1 1 82696 1.20925E-5 41348 0 3.18817E-5
5-148679100-C-T p.Thr15Thr synonymous AFAP1L1 7 83080 8.42561E-5 41540 0 1.2751E-4
5-148679101-G-A p.Gly16Arg missense AFAP1L1 1 83072 1.20378E-5 41536 0 3.97902E-6
5-148679104-C-T p.Leu17Leu synonymous AFAP1L1 4 83102 4.81336E-5 41551 0 0.00151057
5-148679111-G-A p.Ser19Asn missense AFAP1L1 1 83130 1.20294E-5 41565 0 NA
5-148679119-G-C p.Asp22His missense AFAP1L1 1 83148 1.20267E-5 41574 0 8.2545E-6
5-148679124-C-T p.His23His synonymous AFAP1L1 2 83150 2.40529E-5 41575 0 6.25E-4
5-148679137-G-A p.Asp28Asn missense AFAP1L1 19 83170 2.28448E-4 41585 0 1.47166E-4
5-148679141-C-T p.Thr29Ile missense AFAP1L1 2 83180 2.40442E-5 41590 0 4.12562E-5
5-148679143-A-G p.Thr30Ala missense AFAP1L1 2 83156 2.40512E-5 41578 0 NA
5-148679159-T-C p.Met35Thr missense AFAP1L1 8 83138 9.62256E-5 41569 0 2.23285E-4
5-148679163-C-T p.Ala36Ala synonymous AFAP1L1 2 83126 2.40599E-5 41563 0 9.56694E-5
5-148679163-C-G p.Ala36Ala synonymous AFAP1L1 2 83126 2.40599E-5 41563 0 1.65006E-5
5-148679167-G-A p.Ala38Thr missense AFAP1L1 1 83098 1.2034E-5 41549 0 NA
5-148679174-T-C p.Ile40Thr missense AFAP1L1 2 83126 2.40599E-5 41563 0 NA
5-148679183-G-T p.Ser43Ile missense AFAP1L1 1 83110 1.20322E-5 41555 0 NA
5-148679184-C-A p.Ser43Arg missense AFAP1L1 1 83120 1.20308E-5 41560 0 3.97877E-6
5-148679195-T-G p.Leu47Arg missense AFAP1L1 2 83132 2.40581E-5 41566 0 1.98997E-5
5-148679208-G-A c.145+8G>A splice_region AFAP1L1 1 83050 1.20409E-5 41525 0 9.57121E-5
5-148679834-C-A p.Ala49Glu missense+splice_region AFAP1L1 1 82748 1.20849E-5 41374 0 NA
5-148679852-T-G p.Leu55Arg missense AFAP1L1 9 83030 1.08395E-4 41515 0 4.45888E-4
5-148679857-G-A p.Val57Met missense AFAP1L1 1 83056 1.20401E-5 41528 0 3.18532E-5
5-148679863-A-C p.Thr59Pro missense AFAP1L1 2 83088 2.40709E-5 41544 0 0.00100705
5-148679873-T-G p.Leu62Arg missense AFAP1L1 2 83116 2.40628E-5 41558 0 3.18715E-5
5-148679880-G-C p.Ser64Ser synonymous AFAP1L1 139 83108 0.00167252 41554 0 0.0046866
5-148679880-G-A p.Ser64Ser synonymous AFAP1L1 3 83112 3.60959E-5 41556 0 0.00125
5-148679892-C-T p.Phe68Phe synonymous AFAP1L1 1 83096 1.20343E-5 41548 0 3.18613E-5
5-148679893-G-A p.Val69Met missense AFAP1L1 1 83076 1.20372E-5 41538 0 2.804E-5
5-148679901-C-A p.Ser71Ser synonymous AFAP1L1 2 83046 2.4083E-5 41523 0 3.18695E-5
5-148679908-G-A p.Glu74Lys missense AFAP1L1 1 82980 1.20511E-5 41490 0 NA
5-148679915-T-C p.Phe76Ser missense+splice_region AFAP1L1 1 82946 1.2056E-5 41473 0 NA
5-148679917-G-A p.Asp77Asn missense+splice_region AFAP1L1 1 82918 1.20601E-5 41459 0 NA
5-148680689-T-A c.230-7T>A splice_region AFAP1L1 1 82760 1.20831E-5 41380 0 NA
5-148680697-C-T p.Asp77Asp splice_region+synonymous AFAP1L1 1 82896 1.20633E-5 41448 0 3.18431E-5
5-148680705-T-C p.Leu80Pro missense AFAP1L1 1 82990 1.20496E-5 41495 0 NA
5-148680710-G-A p.Asp82Asn missense AFAP1L1 12 83026 1.44533E-4 41513 0 2.54793E-4
5-148680714-T-A p.Leu83His missense AFAP1L1 1 83030 1.20438E-5 41515 0 NA
5-148680716-C-T p.Arg84Trp missense AFAP1L1 2 83038 2.40854E-5 41519 0 3.29641E-5
5-148680717-G-A p.Arg84Gln missense AFAP1L1 2444 82984 0.0294515 41492 47 0.0385351
5-148680722-A-G p.Met86Val missense AFAP1L1 1 83064 1.20389E-5 41532 0 NA
5-148680740-G-A p.Glu92Lys missense AFAP1L1 1 83050 1.20409E-5 41525 0 NA
5-148680748-C-A p.Ser94Arg missense AFAP1L1 1 83014 1.20462E-5 41507 0 3.97795E-6
5-148680758-A-C p.Ser98Arg missense AFAP1L1 1 83002 1.20479E-5 41501 0 NA
5-148680759-G-A p.Ser98Asn missense AFAP1L1 5 82980 6.02555E-5 41490 0 6.37064E-5
5-148680769-A-G p.Leu101Leu synonymous AFAP1L1 1 82962 1.20537E-5 41481 0 5.03525E-4
5-148680777-G-A p.Ser104Asn missense AFAP1L1 308 82888 0.00371586 41444 2 0.00806349
5-148680782-C-T p.Arg106Cys missense AFAP1L1 1 82862 1.20683E-5 41431 0 3.18776E-5
5-148680783-G-T p.Arg106Leu missense AFAP1L1 4 82830 4.82917E-5 41415 0 9.56206E-5
5-148680783-G-A p.Arg106His missense AFAP1L1 1 82830 1.20729E-5 41415 0 3.18378E-5
5-148680791-A-T p.Asn109Tyr missense+splice_region AFAP1L1 1 82672 1.2096E-5 41336 0 3.9808E-6
5-148680793-C-T p.Asn109Asn splice_region+synonymous AFAP1L1 1 82624 1.2103E-5 41312 0 3.30819E-5
5-148680794-G-A c.327+1G>A splice_donor AFAP1L1 18 82614 2.17881E-4 41307 0 7.44749E-5
5-148681978-C-T c.328-3C>T splice_region AFAP1L1 47 81222 5.78661E-4 40611 0 0.0020615
5-148681982-C-T p.Ala110Val missense+splice_region AFAP1L1 3 81230 3.69322E-5 40615 0 8.06322E-5
5-148681983-G-A p.Ala110Ala splice_region+synonymous AFAP1L1 39 81276 4.79846E-4 40638 0 5.42611E-4
5-148681984-G-A p.Ala111Thr missense AFAP1L1 2 81252 2.46148E-5 40626 0 NA
5-148681986-C-T p.Ala111Ala synonymous AFAP1L1 4 81292 4.92053E-5 40646 0 3.66784E-5
5-148681992-G-A p.Leu113Leu synonymous AFAP1L1 2 81384 2.45749E-5 40692 0 1.94256E-5
5-148681994-C-G p.Pro114Arg missense AFAP1L1 1 81444 1.22784E-5 40722 0 NA
5-148682000-C-T p.Pro116Leu missense AFAP1L1 1 81454 1.22769E-5 40727 0 9.14132E-5
5-148682001-G-A p.Pro116Pro synonymous AFAP1L1 17 81454 2.08707E-4 40727 0 0.00125313
5-148682006-C-G p.Pro118Arg missense AFAP1L1 1 81594 1.22558E-5 40797 0 3.18735E-5
5-148682009-A-G p.Asn119Ser missense AFAP1L1 80 81608 9.80296E-4 40804 0 0.0018851
5-148682010-C-A p.Asn119Lys missense AFAP1L1 1 81610 1.22534E-5 40805 0 NA
5-148682015-C-T p.Pro121Leu missense AFAP1L1 4 81644 4.89932E-5 40822 0 7.8637E-5
5-148682016-T-TC p.Glu124fs frameshift AFAP1L1 1 81622 1.22516E-5 40811 0 NA
5-148682018-C-A p.Pro122His missense AFAP1L1 1 81670 1.22444E-5 40835 0 4.54182E-6
5-148682019-C-G p.Pro122Pro synonymous AFAP1L1 2 81678 2.44864E-5 40839 0 NA
5-148682020-C-T p.Pro123Ser missense AFAP1L1 6 81674 7.34628E-5 40837 0 6.33232E-5
5-148682023-G-A p.Glu124Lys missense AFAP1L1 1 81690 1.22414E-5 40845 0 9.03595E-6
5-148682026-G-A p.Asp125Asn missense AFAP1L1 2 81690 2.44828E-5 40845 0 2.49439E-5
5-148682030-A-G p.Tyr126Cys missense AFAP1L1 45 81694 5.50836E-4 40847 0 0.00153071
5-148682038-G-C p.Glu129Gln missense AFAP1L1 1 81746 1.2233E-5 40873 0 NA
5-148682041-G-A p.Ala130Thr missense AFAP1L1 3 81728 3.67071E-5 40864 0 4.91207E-5
5-148682042-C-G p.Ala130Gly missense AFAP1L1 2 81746 2.4466E-5 40873 0 2.46015E-5
5-148682058-C-T p.Pro135Pro synonymous AFAP1L1 9 81756 1.10084E-4 40878 0 1.30774E-4
5-148682059-G-A p.Gly136Ser missense AFAP1L1 3 81738 3.67026E-5 40869 0 7.89848E-5
5-148682060-G-C p.Gly136Ala missense AFAP1L1 2 81748 2.44654E-5 40874 0 4.81645E-6
5-148682066-C-T p.Ser138Leu missense AFAP1L1 1 81714 1.22378E-5 40857 0 5.40278E-5
5-148682067-G-A p.Ser138Ser synonymous AFAP1L1 5 81704 6.11965E-5 40852 0 1.47603E-5
5-148682073-G-A p.Glu140Glu synonymous AFAP1L1 1 81692 1.22411E-5 40846 0 NA
5-148682077-A-G p.Ile142Val missense AFAP1L1 10 81678 1.22432E-4 40839 0 9.56877E-5
5-148682089-A-G p.Asn146Asp missense+splice_region AFAP1L1 1 81544 1.22633E-5 40772 0 3.11294E-5
5-148682097-C-G c.436+8C>G splice_region AFAP1L1 2 81426 2.45622E-5 40713 0 1.12261E-5
5-148682231-C-A n.291C>A splice_region AFAP1L1 1 54272 1.84257E-5 27136 0 NA
5-148685863-C-G c.437-6C>G splice_region AFAP1L1 1 80894 1.23619E-5 40447 0 4.08353E-6
5-148685875-G-A p.Cys148Tyr missense AFAP1L1 1 81472 1.22742E-5 40736 0 NA
5-148685886-C-T p.His152Tyr missense AFAP1L1 2 81938 2.44087E-5 40969 0 9.64432E-5
5-148685888-C-T p.His152His synonymous AFAP1L1 3 82006 3.65827E-5 41003 0 3.83046E-5
5-148685890-C-T p.Ser153Leu missense AFAP1L1 3 82038 3.65684E-5 41019 0 5.04032E-4
5-148685891-G-A p.Ser153Ser synonymous AFAP1L1 1 82008 1.21939E-5 41004 0 3.1839E-5
5-148685896-T-C p.Val155Ala missense AFAP1L1 1 82142 1.2174E-5 41071 0 NA
5-148685904-T-C p.Tyr158His missense AFAP1L1 1 82186 1.21675E-5 41093 0 NA
5-148685906-C-G p.Tyr158* stop_gained AFAP1L1 3 82192 3.64999E-5 41096 0 6.5559E-5
5-148685908-A-G p.Tyr159Cys missense AFAP1L1 2 82190 2.43339E-5 41095 0 1.87171E-5
5-148685915-C-T p.Asp161Asp synonymous AFAP1L1 2 82240 2.43191E-5 41120 0 3.75827E-5
5-148685916-G-A p.Ala162Thr missense AFAP1L1 50 82226 6.0808E-4 41113 0 0.001875
5-148685918-A-G p.Ala162Ala synonymous AFAP1L1 1 82270 1.21551E-5 41135 0 NA
5-148685918-A-C p.Ala162Ala synonymous AFAP1L1 1 82270 1.21551E-5 41135 0 NA
5-148685924-C-A p.Ser164Arg missense AFAP1L1 1 82280 1.21536E-5 41140 0 4.01416E-6
5-148685933-T-G p.Pro167Pro synonymous AFAP1L1 3 82256 3.64715E-5 41128 0 9.72801E-6
5-148685942-G-A p.Arg170Arg synonymous AFAP1L1 1 82252 1.21578E-5 41126 0 NA
5-148685949-G-A p.Gly173Ser missense AFAP1L1 1 82090 1.21818E-5 41045 0 1.07018E-5
5-148685952-G-A p.Glu174Lys missense AFAP1L1 2 82012 2.43867E-5 41006 0 0.0010101
5-148685956-T-C p.Leu175Pro missense AFAP1L1 1 81978 1.21984E-5 40989 0 1.12628E-5
5-148685971-A-C c.535+4A>C splice_region AFAP1L1 1 81742 1.22336E-5 40871 0 NA
5-148686957-G-A c.536-8G>A splice_region AFAP1L1 1 82614 1.21045E-5 41307 0 6.37755E-5
5-148686958-C-A c.536-7C>A splice_region AFAP1L1 1 82668 1.20966E-5 41334 0 NA
5-148686963-A-C c.536-2A>C splice_acceptor AFAP1L1 1 82812 1.20755E-5 41406 0 NA
5-148686966-T-G p.Tyr179* stop_gained AFAP1L1 2 82842 2.41423E-5 41421 0 NA
5-148686970-G-A p.Asp181Asn missense AFAP1L1 1 82856 1.20691E-5 41428 0 NA
5-148686972-C-T p.Asp181Asp synonymous AFAP1L1 1 82896 1.20633E-5 41448 0 NA
5-148686974-C-A p.Ser182Tyr missense AFAP1L1 2 82916 2.41208E-5 41458 1 NA
5-148686978-C-T p.Asp183Asp synonymous AFAP1L1 2 82922 2.41191E-5 41461 0 3.18203E-5
5-148686979-G-A p.Ala184Thr missense AFAP1L1 4 82950 4.82218E-5 41475 0 4.77331E-5
5-148686979-G-T p.Ala184Ser missense AFAP1L1 1 82950 1.20555E-5 41475 0 NA
5-148686983-T-C p.Met185Thr missense AFAP1L1 6 82990 7.22979E-5 41495 0 1.276E-4
5-148686990-C-G p.Ser187Arg missense AFAP1L1 1 83036 1.2043E-5 41518 0 8.24022E-6
5-148686991-T-C p.Ser188Pro missense AFAP1L1 1 83044 1.20418E-5 41522 0 NA
5-148687006-G-A p.Asp193Asn missense AFAP1L1 1 83132 1.20291E-5 41566 0 5.76758E-5
5-148687013-A-G p.Glu195Gly missense AFAP1L1 1 83172 1.20233E-5 41586 0 NA
5-148687028-A-G p.Lys200Arg missense AFAP1L1 1 83202 1.20189E-5 41601 0 3.97662E-6
5-148687042-C-T p.Arg205* stop_gained AFAP1L1 4 83226 4.80619E-5 41613 0 7.95305E-6
5-148687043-G-A p.Arg205Gln missense AFAP1L1 6 83230 7.20894E-5 41615 0 4.5319E-4
5-148687043-G-C p.Arg205Pro missense AFAP1L1 1 83234 1.20143E-5 41617 0 NA
5-148687064-A-G p.Glu212Gly missense AFAP1L1 2 83264 2.402E-5 41632 0 0.0025
5-148687085-G-T p.Arg219Met missense AFAP1L1 3 83278 3.60239E-5 41639 0 NA
5-148687089-A-G p.Glu220Glu synonymous AFAP1L1 1 83272 1.20088E-5 41636 0 3.97678E-6
5-148687093-A-G p.Arg222Gly missense AFAP1L1 1 83268 1.20094E-5 41634 0 NA
5-148687115-G-A p.Arg229Gln missense AFAP1L1 1 83238 1.20137E-5 41619 0 3.30093E-5
5-148687123-C-T p.Arg232Cys missense AFAP1L1 1 83220 1.20163E-5 41610 0 1.19327E-5
5-148687124-G-A p.Arg232His missense AFAP1L1 4 83210 4.80711E-5 41605 0 0.00100806
5-148687128-C-T p.Phe233Phe synonymous AFAP1L1 16 83152 1.92419E-4 41576 0 5.04032E-4
5-148687129-G-A p.Gly234Arg missense AFAP1L1 7 83136 8.41994E-5 41568 0 2.78458E-5
5-148687147-C-T p.Leu240Leu synonymous AFAP1L1 2 82898 2.4126E-5 41449 0 8.3382E-6
5-148687151-C-T p.Thr241Met missense AFAP1L1 3 82834 3.6217E-5 41417 0 3.18878E-5
5-148687152-G-A p.Thr241Thr synonymous AFAP1L1 3855 82618 0.0466605 41309 80 0.0466007
5-148687158-C-G p.Ile243Met missense AFAP1L1 1 82606 1.21057E-5 41303 0 3.18837E-5
5-148687168-C-G p.Gln247Glu missense AFAP1L1 2 82286 2.43055E-5 41143 0 NA
5-148689513-G-C c.748-6G>C splice_region AFAP1L1 1 83268 1.20094E-5 41634 0 NA
5-148689541-G-A p.Arg257Gln missense AFAP1L1 4 83326 4.80042E-5 41663 0 7.41705E-5
5-148689552-C-T p.Leu261Leu synonymous AFAP1L1 1 83334 1.19999E-5 41667 0 3.18492E-5
5-148689572-C-T p.Thr267Thr synonymous AFAP1L1 1 83302 1.20045E-5 41651 0 NA
5-148689586-A-G p.Tyr272Cys missense AFAP1L1 1 83298 1.20051E-5 41649 0 3.18613E-5
5-148689588-G-A p.Val273Met missense AFAP1L1 4 83302 4.80181E-5 41651 0 5.77148E-5
5-148689590-G-A p.Val273Val synonymous AFAP1L1 2 83296 2.40108E-5 41648 0 5.03525E-4
5-148689591-C-T p.Pro274Ser missense AFAP1L1 1 83300 1.20048E-5 41650 0 8.24674E-6
5-148689592-C-T p.Pro274Leu missense AFAP1L1 3 83300 3.60144E-5 41650 0 7.95513E-6
5-148689603-C-T p.Arg278Trp missense AFAP1L1 1 83298 1.20051E-5 41649 0 3.18532E-5
5-148689604-G-A p.Arg278Gln missense AFAP1L1 1 83294 1.20057E-5 41647 0 3.18451E-5
5-148689609-A-G p.Lys280Glu missense AFAP1L1 1 83302 1.20045E-5 41651 0 NA
5-148689614-G-A p.Arg281Arg synonymous AFAP1L1 1 83268 1.20094E-5 41634 0 3.18492E-5
5-148689617-C-T p.His282His synonymous AFAP1L1 13 83260 1.56137E-4 41630 0 1.67128E-4
5-148689618-G-A p.Glu283Lys missense AFAP1L1 2 83262 2.40206E-5 41631 0 2.48225E-5
5-148689625-G-A p.Arg285His missense AFAP1L1 8 83234 9.61146E-5 41617 0 5.80046E-5
5-148689632-C-T p.Thr287Thr synonymous AFAP1L1 4 83224 4.80631E-5 41612 0 1.27405E-4
5-148689638-G-T p.Gly289Gly synonymous AFAP1L1 1 83186 1.20213E-5 41593 0 3.18512E-5
5-148689659-G-A p.Leu296Leu synonymous AFAP1L1 1 82994 1.20491E-5 41497 0 3.18512E-5
5-148689661-C-T p.Ala297Val missense AFAP1L1 1 82968 1.20528E-5 41484 0 NA
5-148689662-A-T p.Ala297Ala synonymous AFAP1L1 1 82946 1.2056E-5 41473 0 5.09009E-5
5-148689663-C-A p.Leu298Met missense AFAP1L1 1 82948 1.20557E-5 41474 0 NA
5-148689667-A-T p.Gln299Leu missense AFAP1L1 1 82902 1.20624E-5 41451 0 1.71048E-5
5-148689673-G-A p.Arg301Gln missense AFAP1L1 20 82732 2.41744E-4 41366 0 9.23802E-4
5-148689677-G-A p.Glu302Glu synonymous AFAP1L1 1 82648 1.20995E-5 41324 0 NA
5-148689683-C-T p.Ala304Ala synonymous AFAP1L1 2 82438 2.42607E-5 41219 0 4.40436E-5
5-148689684-G-T p.Glu305* stop_gained AFAP1L1 1 82378 1.21392E-5 41189 0 5.05051E-4
5-148689684-G-A p.Glu305Lys missense AFAP1L1 1 82378 1.21392E-5 41189 0 6.37024E-5
5-148689689-G-A p.Glu306Glu synonymous AFAP1L1 17 82176 2.06873E-4 41088 0 2.86624E-4
5-148689702-C-T c.927+4C>T splice_region AFAP1L1 1 81066 1.23356E-5 40533 0 3.8449E-5
5-148689703-G-A c.927+5G>A splice_region AFAP1L1 1 80950 1.23533E-5 40475 0 3.18593E-5
5-148691681-C-T p.Arg312* stop_gained AFAP1L1 3 82630 3.63064E-5 41315 0 8.31656E-5
5-148691706-G-A p.Gly320Glu missense AFAP1L1 1 83096 1.20343E-5 41548 0 NA
5-148691708-G-T p.Ala321Ser missense AFAP1L1 1 83102 1.20334E-5 41551 0 NA
5-148691718-T-G p.Val324Gly missense AFAP1L1 1 83176 1.20227E-5 41588 0 NA
5-148691724-T-A p.Val326Asp missense AFAP1L1 1 83206 1.20184E-5 41603 0 3.97753E-6
5-148691726-C-T p.Pro327Ser missense AFAP1L1 3 83210 3.60534E-5 41605 0 4.291E-4
5-148691736-C-T p.Pro330Leu missense AFAP1L1 2 83212 2.4035E-5 41606 0 9.55292E-5
5-148691762-G-C p.Asp339His missense AFAP1L1 13 83194 1.56261E-4 41597 0 0.0025
5-148691769-T-C c.1020+2T>C splice_donor AFAP1L1 2 83172 2.40466E-5 41586 0 8.25491E-6
5-148691770-A-G c.1020+3A>G splice_region AFAP1L1 16 83150 1.92423E-4 41575 0 1.27389E-4
5-148695399-A-C p.Lys346Gln missense AFAP1L1 1 83196 1.20198E-5 41598 0 8.2824E-6
5-148695404-G-T p.Gln347His missense AFAP1L1 51 83202 6.12966E-4 41601 0 0.00100705
5-148695407-C-G p.Thr348Thr synonymous AFAP1L1 1 83214 1.20172E-5 41607 0 NA
5-148695419-C-G p.Asp352Glu missense AFAP1L1 1 83238 1.20137E-5 41619 0 NA
5-148695423-G-A p.Val354Met missense AFAP1L1 19 83248 2.28234E-4 41624 0 2.3113E-4
5-148695427-G-C p.Gly355Ala missense AFAP1L1 1 83250 1.2012E-5 41625 0 NA
5-148695429-G-A p.Val356Met missense AFAP1L1 1 83242 1.20132E-5 41621 0 3.97687E-6
5-148695433-G-A p.Gly357Asp missense AFAP1L1 3 83236 3.60421E-5 41618 0 1.64967E-5
5-148695433-G-T p.Gly357Val missense AFAP1L1 2 83238 2.40275E-5 41619 0 8.24837E-6
5-148695446-T-C p.Ser361Ser synonymous AFAP1L1 2 83234 2.40286E-5 41617 0 2.38614E-5
5-148695457-G-A p.Arg365His missense AFAP1L1 4 83186 4.8085E-5 41593 0 6.3639E-5
5-148695459-C-T p.Arg366Trp missense AFAP1L1 2 83200 2.40385E-5 41600 0 6.25E-4
5-148695460-G-A p.Arg366Gln missense AFAP1L1 2 83208 2.40361E-5 41604 0 3.5799E-5
5-148695466-C-G p.Thr368Ser missense AFAP1L1 1 83196 1.20198E-5 41598 0 2.47566E-5
5-148695470-T-C p.Cys369Cys synonymous AFAP1L1 1 83194 1.20201E-5 41597 0 3.9775E-6
5-148695476-C-T p.His371His splice_region+synonymous AFAP1L1 1 83158 1.20253E-5 41579 0 3.58032E-5
5-148695477-G-A p.Gly372Ser missense+splice_region AFAP1L1 2 83172 2.40466E-5 41586 0 3.18552E-5
5-148695484-G-A c.1114+7G>A splice_region AFAP1L1 1 83128 1.20296E-5 41564 0 NA
5-148695729-G-A p.Ser377Asn missense AFAP1L1 1 83052 1.20406E-5 41526 0 NA
5-148695734-C-T p.Leu379Leu synonymous AFAP1L1 1 83084 1.2036E-5 41542 0 NA
5-148695756-T-C p.Met386Thr missense AFAP1L1 1 83162 1.20247E-5 41581 0 8.285E-6
5-148695768-C-T p.Ala390Val missense AFAP1L1 1 83124 1.20302E-5 41562 0 NA
5-148695769-G-A p.Ala390Ala synonymous AFAP1L1 1 83128 1.20296E-5 41564 0 1.19397E-5
5-148695770-G-A p.Gly391Ser missense AFAP1L1 2 83142 2.40552E-5 41571 0 8.28144E-6
5-148695774-G-A p.Arg392His missense AFAP1L1 1 83128 1.20296E-5 41564 0 2.48439E-5
5-148695781-C-T p.Ile394Ile synonymous AFAP1L1 15 83150 1.80397E-4 41575 0 1.35306E-4
5-148695785-C-T p.Arg396Cys missense AFAP1L1 1 83142 1.20276E-5 41571 0 4.97092E-5
5-148695786-G-A p.Arg396His missense AFAP1L1 6 83138 7.21692E-5 41569 0 9.5645E-5
5-148695791-A-G p.Ile398Val missense AFAP1L1 2 83134 2.40575E-5 41567 0 NA
5-148695806-A-C p.Lys403Gln missense AFAP1L1 6 83116 7.21883E-5 41558 0 8.29903E-6
5-148695808-G-C p.Lys403Asn missense AFAP1L1 1 83110 1.20322E-5 41555 0 NA
5-148695816-T-C p.Leu406Pro missense AFAP1L1 35 83138 4.20987E-4 41569 0 0.00121181
5-148695825-A-T p.Asp409Val missense AFAP1L1 282 83060 0.00339514 41530 0 0.00705214
5-148695834-C-A p.Thr412Lys missense AFAP1L1 3 83016 3.61376E-5 41508 0 3.98584E-6
5-148695840-C-T p.Ser414Phe missense AFAP1L1 1 82956 1.20546E-5 41478 0 NA
5-148695845-G-A p.Glu416Lys missense AFAP1L1 2 82850 2.414E-5 41425 0 6.37836E-5
5-148697301-A-C p.Asn426Thr missense AFAP1L1 4 82290 4.86086E-5 41145 0 3.99773E-6
5-148697302-C-T p.Asn426Asn synonymous AFAP1L1 5 82306 6.07489E-5 41153 0 3.18471E-5
5-148697303-G-A p.Val427Met missense AFAP1L1 3 82320 3.64431E-5 41160 0 6.3678E-5
5-148697308-G-T p.Leu428Leu synonymous AFAP1L1 1 82384 1.21383E-5 41192 0 3.51062E-5
5-148697317-G-A p.Gln431Gln synonymous AFAP1L1 8 82450 9.70285E-5 41225 0 5.04032E-4
5-148697330-C-T p.Arg436Cys missense AFAP1L1 1 82530 1.21168E-5 41265 0 3.99284E-6
5-148697331-G-A p.Arg436His missense AFAP1L1 1 82508 1.212E-5 41254 0 5.23889E-5
5-148697334-G-A p.Trp437* stop_gained AFAP1L1 1 82534 1.21162E-5 41267 0 NA
5-148697340-G-A p.Arg439His missense AFAP1L1 1 82530 1.21168E-5 41265 0 5.04032E-4
5-148697346-A-G p.Lys441Arg missense AFAP1L1 22 82556 2.66486E-4 41278 0 7.95976E-4
5-148697348-T-G p.Cys442Gly missense AFAP1L1 3 82558 3.63381E-5 41279 0 NA
5-148697352-A-G p.Asn443Ser missense AFAP1L1 2 82576 2.42201E-5 41288 0 8.89411E-6
5-148697357-C-T p.Leu445Leu synonymous AFAP1L1 1 82580 1.21095E-5 41290 0 3.99511E-6
5-148697371-G-A p.Lys449Lys synonymous AFAP1L1 2 82498 2.4243E-5 41249 0 NA
5-148697374-T-C p.Asp450Asp synonymous AFAP1L1 1 82500 1.21212E-5 41250 0 3.18532E-5
5-148697388-G-A p.Arg455Gln missense AFAP1L1 6 82374 7.28385E-5 41187 0 2.4397E-5
5-148697388-G-T p.Arg455Leu missense AFAP1L1 1 82374 1.21398E-5 41187 0 NA
5-148697402-G-A p.Ala460Thr missense AFAP1L1 1 82264 1.2156E-5 41132 0 1.19181E-5
5-148697407-C-T p.Ile461Ile synonymous AFAP1L1 1 82242 1.21592E-5 41121 0 3.72439E-5
5-148697408-G-A p.Ala462Thr missense AFAP1L1 2 82214 2.43268E-5 41107 0 2.53833E-5
5-148697413-G-T p.Leu463Leu synonymous AFAP1L1 2 82180 2.43368E-5 41090 0 4.18641E-6
5-148697431-C-T p.Ala469Ala synonymous AFAP1L1 31 82026 3.77929E-4 41013 0 8.86552E-4
5-148697433-C-T p.Pro470Leu missense AFAP1L1 1 82022 1.21919E-5 41011 0 1.56991E-5
5-148697434-G-A p.Pro470Pro synonymous AFAP1L1 4 82052 4.87496E-5 41026 0 3.18532E-5
5-148697435-G-A p.Gly471Ser missense AFAP1L1 2 82054 2.43742E-5 41027 0 1.11277E-4
5-148697443-G-GC p.Arg475fs frameshift AFAP1L1 1 81956 1.22017E-5 40978 0 NA
5-148697448-G-A p.Arg475Gln missense AFAP1L1 23 81910 2.80796E-4 40955 0 0.00125
5-148697473-G-T p.Leu483Leu synonymous AFAP1L1 1 81704 1.22393E-5 40852 0 NA
5-148697480-C-T p.Arg486Trp missense AFAP1L1 3 81550 3.67872E-5 40775 0 6.37105E-5
5-148697488-G-A p.Glu488Glu synonymous AFAP1L1 1 81416 1.22826E-5 40708 0 NA
5-148697496-T-C p.Ile491Thr missense AFAP1L1 1 81206 1.23144E-5 40603 0 NA
5-148697497-C-T p.Ile491Ile synonymous AFAP1L1 1 81174 1.23192E-5 40587 0 NA
5-148699142-C-T c.1480-3C>T splice_region AFAP1L1 2 83128 2.40593E-5 41564 0 NA
5-148699155-C-T p.Ser497Leu missense AFAP1L1 2 83124 2.40604E-5 41562 0 3.18512E-5
5-148699169-C-T p.Arg502Cys missense AFAP1L1 14 83074 1.68524E-4 41537 0 1.27429E-4
5-148699170-G-A p.Arg502His missense AFAP1L1 10 83080 1.20366E-4 41540 0 1.09922E-4
5-148699173-G-A p.Trp503* stop_gained AFAP1L1 1 83084 1.2036E-5 41542 0 NA
5-148699177-C-T p.Leu504Leu synonymous AFAP1L1 1 83062 1.20392E-5 41531 0 3.18552E-5
5-148699178-G-A p.Gly505Arg missense AFAP1L1 8 83056 9.63206E-5 41528 0 6.37349E-5
5-148699180-G-A p.Gly505Gly synonymous AFAP1L1 1 83058 1.20398E-5 41529 0 3.99061E-6
5-148699190-G-A p.Val509Met missense AFAP1L1 20 83036 2.40859E-4 41518 0 6.77993E-5
5-148699196-A-ATGGGC p.Ser513fs frameshift AFAP1L1 1 83022 1.2045E-5 41511 0 NA
5-148699197-T-C p.Met511Thr missense AFAP1L1 9 83024 1.08402E-4 41512 0 1.27437E-4
5-148699208-G-A p.Val515Ile missense AFAP1L1 25 82986 3.01256E-4 41493 0 4.45917E-4
5-148699215-C-T p.Pro517Leu missense AFAP1L1 3 82924 3.61777E-5 41462 0 3.31598E-5
5-148699216-G-A p.Pro517Pro synonymous AFAP1L1 1 82904 1.20621E-5 41452 0 1.27453E-4
5-148699221-C-T p.Ala519Val missense AFAP1L1 2 82856 2.41383E-5 41428 0 3.18796E-5
5-148699230-A-G p.Tyr522Cys missense AFAP1L1 13 82818 1.56971E-4 41409 0 9.55901E-5
5-148699236-A-G p.Tyr524Cys missense AFAP1L1 1 82780 1.20802E-5 41390 0 NA
5-148699237-C-T p.Tyr524Tyr synonymous AFAP1L1 2 82758 2.41668E-5 41379 0 3.32662E-5
5-148699238-G-A p.Val525Met missense AFAP1L1 2 82746 2.41704E-5 41373 0 1.99243E-5
5-148699251-C-T p.Thr529Ile missense AFAP1L1 2 82636 2.42025E-5 41318 0 1.59431E-5
5-148699265-G-A p.Val534Ile missense AFAP1L1 1 82386 1.2138E-5 41193 0 1.10748E-4
5-148699281-A-G p.Asn539Ser missense AFAP1L1 1 81918 1.22073E-5 40959 0 NA
5-148699290-TGTAA-T c.1625+1_1625+4delGTAA splice_donor AFAP1L1 2 81818 2.44445E-5 40909 0 3.18634E-5
5-148699291-G-T c.1625+1G>T splice_donor AFAP1L1 1 81774 1.22288E-5 40887 0 NA
5-148699291-G-C c.1625+1G>C splice_donor AFAP1L1 1 81774 1.22288E-5 40887 0 NA
5-148699950-C-A c.1626-4C>A splice_region AFAP1L1 1 83210 1.20178E-5 41605 0 NA
5-148699951-T-C c.1626-3T>C splice_region AFAP1L1 7160 83008 0.0862567 41504 323 0.0706958
5-148699954-A-G p.Leu542Leu splice_region+synonymous AFAP1L1 1 83216 1.20169E-5 41608 0 8.24076E-6
5-148699986-A-G p.Glu553Gly missense AFAP1L1 20 83304 2.40085E-4 41652 0 5.41332E-4
5-148699987-G-C p.Glu553Asp missense AFAP1L1 2 83306 2.40079E-5 41653 1 NA
5-148699992-G-A p.Arg555Gln missense AFAP1L1 1 83296 1.20054E-5 41648 0 3.1841E-5
5-148699996-C-A p.Val556Val synonymous AFAP1L1 1 83302 1.20045E-5 41651 0 NA
5-148699999-T-C p.Tyr557Tyr synonymous AFAP1L1 1 83304 1.20042E-5 41652 0 NA
5-148700007-T-C p.Val560Ala missense AFAP1L1 3 83304 3.60127E-5 41652 0 8.2394E-6
5-148700031-A-T c.1698+5A>T splice_region AFAP1L1 519 83236 0.00623528 41618 13 0.0136754
5-148702161-C-T c.1699-8C>T splice_region AFAP1L1 1 81502 1.22696E-5 40751 0 2.36295E-5
5-148702170-A-G p.Asp567Gly missense+splice_region AFAP1L1 2 81532 2.45302E-5 40766 0 NA
5-148702171-C-T p.Asp567Asp splice_region+synonymous AFAP1L1 22 81558 2.69747E-4 40779 0 0.00254842
5-148702172-G-A p.Glu568Lys missense AFAP1L1 2 81578 2.45164E-5 40789 0 1.03891E-4
5-148702180-C-T p.Pro570Pro synonymous AFAP1L1 2 81590 2.45128E-5 40795 0 1.1675E-4
5-148702181-G-A p.Glu571Lys missense AFAP1L1 17 81582 2.08379E-4 40791 1 0.001875
5-148702184-C-T p.Arg572Cys missense AFAP1L1 4 81614 4.90112E-5 40807 0 1.11483E-4
5-148702188-C-T p.Pro573Leu missense AFAP1L1 1 81648 1.22477E-5 40824 0 NA
5-148702189-C-T p.Pro573Pro synonymous AFAP1L1 1 81652 1.22471E-5 40826 0 6.99545E-5
5-148702191-C-A p.Thr574Lys missense AFAP1L1 1 81628 1.22507E-5 40814 0 NA
5-148702193-G-A p.Gly575Arg missense AFAP1L1 2 81612 2.45062E-5 40806 0 1.34075E-4
5-148702198-C-A p.Ala576Ala synonymous AFAP1L1 2 81628 2.45014E-5 40814 0 3.14031E-5
5-148702202-G-C p.Val578Leu missense AFAP1L1 3 81638 3.67476E-5 40819 0 1.90176E-5
5-148702202-G-A p.Val578Met missense AFAP1L1 1 81640 1.22489E-5 40820 0 NA
5-148702203-T-TG p.Lys579fs frameshift AFAP1L1 1 81626 1.2251E-5 40813 0 NA
5-148702206-A-C p.Lys579Thr missense AFAP1L1 1 81666 1.2245E-5 40833 0 4.71409E-6
5-148702208-C-T p.Arg580Cys missense AFAP1L1 3 81662 3.67368E-5 40831 0 9.55536E-5
5-148702209-G-A p.Arg580His missense AFAP1L1 1 81666 1.2245E-5 40833 0 2.88334E-5
5-148702213-C-T p.His581His synonymous AFAP1L1 1 81722 1.22366E-5 40861 0 3.18492E-5
5-148702215-C-T p.Ala582Val missense AFAP1L1 1 81756 1.22315E-5 40878 0 NA
5-148702217-T-G p.Ser583Ala missense AFAP1L1 1 81722 1.22366E-5 40861 0 NA
5-148702230-A-G p.Glu587Gly missense AFAP1L1 3 81800 3.66748E-5 40900 0 5.15464E-5
5-148702231-G-A p.Glu587Glu synonymous AFAP1L1 2 81800 2.44499E-5 40900 0 4.54397E-6
5-148702241-C-A p.Arg591Ser missense AFAP1L1 255 81818 0.00311667 40909 1 0.00754777
5-148702241-C-T p.Arg591Cys missense AFAP1L1 21 81826 2.56642E-4 40913 0 6.85256E-4
5-148702242-G-T p.Arg591Leu missense AFAP1L1 2 81824 2.44427E-5 40912 0 NA
5-148702242-G-A p.Arg591His missense AFAP1L1 1 81824 1.22214E-5 40912 0 2.6338E-5
5-148702249-C-A p.Asp593Glu missense AFAP1L1 1 81842 1.22187E-5 40921 0 2.67294E-5
5-148702251-C-T p.Pro594Leu missense AFAP1L1 2 81848 2.44355E-5 40924 0 8.1182E-5
5-148702252-G-A p.Pro594Pro synonymous AFAP1L1 2 81842 2.44373E-5 40921 0 1.63613E-4
5-148702254-A-C p.Gln595Pro missense AFAP1L1 2 81850 2.44349E-5 40925 0 4.76794E-6
5-148702254-A-G p.Gln595Arg missense AFAP1L1 1 81850 1.22175E-5 40925 0 NA
5-148702255-G-A p.Gln595Gln synonymous AFAP1L1 16 81880 1.95408E-4 40940 0 2.54761E-4
5-148702255-G-C p.Gln595His missense AFAP1L1 3 81880 3.6639E-5 40940 0 8.18107E-5
5-148702268-C-T p.Arg600Cys missense AFAP1L1 2 81836 2.44391E-5 40918 0 3.18471E-5
5-148702269-G-A p.Arg600His missense AFAP1L1 1 81822 1.22217E-5 40911 0 2.88434E-5
5-148702273-C-G p.His601Gln missense AFAP1L1 4 81838 4.8877E-5 40919 1 5.06073E-4
5-148702273-C-T p.His601His synonymous AFAP1L1 4 81838 4.8877E-5 40919 0 3.18431E-5
5-148702274-G-A p.Ala602Thr missense AFAP1L1 4 81808 4.8895E-5 40904 0 5.93754E-5
5-148702276-C-T p.Ala602Ala synonymous AFAP1L1 1 81832 1.22202E-5 40916 0 NA
5-148702284-A-C c.1810+4A>C splice_region AFAP1L1 1 81736 1.22345E-5 40868 0 3.18654E-5
5-148709222-T-C c.1811-7T>C splice_region AFAP1L1 1 83062 1.20392E-5 41531 0 1.21385E-5
5-148709235-A-T p.Asn606Ile missense AFAP1L1 1 83162 1.20247E-5 41581 0 NA
5-148709257-C-A p.Asn613Lys missense AFAP1L1 1 83232 1.20146E-5 41616 0 NA
5-148709263-C-T p.Ala615Ala synonymous AFAP1L1 2 83234 2.40286E-5 41617 0 3.58449E-5
5-148709264-G-A p.Glu616Lys missense AFAP1L1 3 83244 3.60386E-5 41622 0 6.37024E-5
5-148709268-A-G p.Glu617Gly missense AFAP1L1 1 83252 1.20117E-5 41626 0 NA
5-148709272-T-C p.Asp618Asp synonymous AFAP1L1 2 83254 2.40229E-5 41627 0 8.48695E-6
5-148709276-C-T p.Arg620Trp missense AFAP1L1 15 83252 1.80176E-4 41626 0 1.27429E-4
5-148709277-G-A p.Arg620Gln missense AFAP1L1 2 83260 2.40211E-5 41630 0 2.78782E-5
5-148709280-G-T p.Arg621Met missense AFAP1L1 1 83254 1.20114E-5 41627 0 3.98118E-6
5-148709292-A-G p.Glu625Gly missense AFAP1L1 28 83274 3.36239E-4 41637 0 0.003125
5-148709296-A-G p.Lys626Lys synonymous AFAP1L1 4 83288 4.80261E-5 41644 0 3.98121E-6
5-148709305-G-A p.Leu629Leu synonymous AFAP1L1 3 83290 3.60187E-5 41645 0 8.3626E-5
5-148709310-AAG-A p.Lys633fs frameshift AFAP1L1 1 83294 1.20057E-5 41647 0 NA
5-148709322-C-T p.Thr635Met missense AFAP1L1 2 83302 2.4009E-5 41651 0 6.77264E-5
5-148709323-G-A p.Thr635Thr synonymous AFAP1L1 22 83304 2.64093E-4 41652 0 0.0020141
5-148709327-C-T p.Arg637Trp missense AFAP1L1 1 83312 1.20031E-5 41656 0 NA
5-148709328-G-A p.Arg637Gln missense AFAP1L1 8 83308 9.60292E-5 41654 0 3.58915E-5
5-148709340-T-C p.Ile641Thr missense AFAP1L1 3 83306 3.60118E-5 41653 0 3.18573E-5
5-148709344-A-C p.Ala642Ala synonymous AFAP1L1 96 83296 0.00115252 41648 0 0.00152866
5-148709352-A-G p.Gln645Arg missense AFAP1L1 1 83302 1.20045E-5 41651 0 NA
5-148709353-G-A p.Gln645Gln synonymous AFAP1L1 1 83298 1.20051E-5 41649 0 2.89821E-5
5-148709356-G-A p.Glu646Glu synonymous AFAP1L1 2 83286 2.40136E-5 41643 0 9.70064E-6
5-148709372-G-A p.Glu652Lys missense AFAP1L1 1 83222 1.20161E-5 41611 0 NA
5-148709381-C-T p.Arg655Trp missense AFAP1L1 1 83170 1.20236E-5 41585 0 NA
5-148709388-G-A p.Ser657Asn missense AFAP1L1 5 83124 6.01511E-5 41562 0 3.32463E-5
5-148709391-C-G p.Pro658Arg missense+splice_region AFAP1L1 1 83100 1.20337E-5 41550 0 NA
5-148709394-G-A c.1975+1G>A splice_donor AFAP1L1 1 83080 1.20366E-5 41540 0 NA
5-148709396-A-T c.1975+3A>T splice_region AFAP1L1 1 83034 1.20433E-5 41517 0 NA
5-148712248-CTT-C c.1976-9_1976-8delTT splice_region AFAP1L1 11 83040 1.32466E-4 41520 0 9.5584E-5
5-148712261-C-A p.Ala660Glu missense AFAP1L1 1 83126 1.20299E-5 41563 0 NA
5-148712273-C-T p.Ala664Val missense AFAP1L1 1 83212 1.20175E-5 41606 0 NA
5-148712274-TCTGGAAGAAGCCGTGGCCACC-T p.Glu667_Glu673del disruptive_inframe_deletion AFAP1L1 2 83212 2.4035E-5 41606 0 7.99348E-6
5-148712281-G-A p.Glu667Lys missense AFAP1L1 5 83236 6.00702E-5 41618 0 NA
5-148712286-C-T p.Ala668Ala synonymous AFAP1L1 2 83240 2.40269E-5 41620 0 3.18573E-5
5-148712287-G-T p.Val669Leu missense AFAP1L1 1 83246 1.20126E-5 41623 0 NA
5-148712287-G-A p.Val669Met missense AFAP1L1 7 83246 8.40881E-5 41623 0 2.79102E-5
5-148712290-G-T p.Ala670Ser missense AFAP1L1 1 83266 1.20097E-5 41633 0 3.18552E-5
5-148712295-C-T p.Thr671Thr synonymous AFAP1L1 2 83258 2.40217E-5 41629 0 NA
5-148712296-C-T p.Leu672Leu synonymous AFAP1L1 1 83250 1.2012E-5 41625 0 8.31739E-6
5-148712303-C-T p.Ala674Val missense AFAP1L1 7 83252 8.40821E-5 41626 0 3.18471E-5
5-148712304-TCA-T p.Gln675fs frameshift AFAP1L1 1 83254 1.20114E-5 41627 0 NA
5-148712311-C-T p.Arg677Trp missense AFAP1L1 1 83248 1.20123E-5 41624 0 1.51258E-4
5-148712312-G-A p.Arg677Gln missense AFAP1L1 13 83238 1.56179E-4 41619 0 1.27389E-4
5-148712326-C-T p.Arg682Cys missense AFAP1L1 1 83200 1.20192E-5 41600 0 8.33917E-6
5-148712327-G-A p.Arg682His missense AFAP1L1 1 83192 1.20204E-5 41596 0 1.66803E-5
5-148712329-C-T p.Arg683Trp missense AFAP1L1 6 83186 7.21275E-5 41593 0 3.18532E-5
5-148712329-CG-C p.Ile684fs frameshift AFAP1L1 1 83186 1.20213E-5 41593 0 NA
5-148712330-G-A p.Arg683Gln missense AFAP1L1 3 83190 3.6062E-5 41595 0 2.5481E-4
5-148712330-G-C p.Arg683Pro missense AFAP1L1 1 83190 1.20207E-5 41595 0 NA
5-148712331-G-A p.Arg683Arg synonymous AFAP1L1 5 83186 6.01063E-5 41593 0 2.50689E-5
5-148712353-G-A p.Val691Met missense AFAP1L1 1 83108 1.20325E-5 41554 0 NA
5-148712354-T-C p.Val691Ala missense AFAP1L1 2 83092 2.40697E-5 41546 0 NA
5-148712364-G-A p.Lys694Lys synonymous AFAP1L1 1 83030 1.20438E-5 41515 0 3.98979E-6
5-148712368-C-T p.Arg696Cys missense AFAP1L1 1 82950 1.20555E-5 41475 0 2.69993E-5
5-148712369-G-A p.Arg696His missense AFAP1L1 47 82920 5.66811E-4 41460 0 6.05096E-4
5-148712381-C-T p.Ser700Phe missense AFAP1L1 4 82772 4.83255E-5 41386 0 9.69349E-6
5-148712392-G-A p.Gly704Arg missense AFAP1L1 1 82656 1.20983E-5 41328 0 4.07611E-6
5-148712394-G-A p.Gly704Gly synonymous AFAP1L1 1 82604 1.2106E-5 41302 0 NA
5-148712400-C-T p.Ala706Ala synonymous AFAP1L1 1 82534 1.21162E-5 41267 0 NA
5-148712401-C-T p.Leu707Leu synonymous AFAP1L1 2 82544 2.42295E-5 41272 0 NA
5-148712403-G-A p.Leu707Leu synonymous AFAP1L1 2 82510 2.42395E-5 41255 0 NA
5-148712408-T-G p.Leu709Arg missense AFAP1L1 1 82354 1.21427E-5 41177 0 4.99476E-5
5-148712412-C-T p.Ser710Ser synonymous AFAP1L1 2 82244 2.43179E-5 41122 0 5.29773E-5
5-148712413-G-A p.Val711Met missense AFAP1L1 1 82248 1.21584E-5 41124 0 2.69418E-5
5-148712424-G-A p.Lys714Lys synonymous AFAP1L1 3 81688 3.67251E-5 40844 0 NA
5-148712444-C-T c.2154+8C>T splice_region AFAP1L1 1 81314 1.2298E-5 40657 0 1.0305E-4
5-148715163-G-A p.Ala721Thr missense AFAP1L1 1 82644 1.21001E-5 41322 0 NA
5-148715183-C-T p.Ser727Ser synonymous AFAP1L1 1 82844 1.20709E-5 41422 0 3.29549E-5
5-148715184-G-A p.Val728Ile missense AFAP1L1 67 82876 8.08437E-4 41438 0 0.00151057
5-148715187-C-G p.Pro729Ala missense AFAP1L1 7 82942 8.43963E-5 41471 0 2.22958E-4
5-148715199-C-A p.Leu733Ile missense AFAP1L1 2 83132 2.40581E-5 41566 0 3.29511E-5
5-148715206-T-A p.Val735Asp missense AFAP1L1 1 83204 1.20187E-5 41602 0 7.95336E-6
5-148715212-G-C p.Cys737Ser missense AFAP1L1 3 83258 3.60326E-5 41629 0 NA
5-148715216-T-C p.Val738Val synonymous AFAP1L1 45 83272 5.40398E-4 41636 0 0.00156091
5-148715225-G-C p.Leu741Leu synonymous AFAP1L1 1 83304 1.20042E-5 41652 0 NA
5-148715247-G-A p.Val749Ile missense AFAP1L1 18 83330 2.16009E-4 41665 0 5.03525E-4
5-148715258-C-T p.Asn752Asn synonymous AFAP1L1 1 83330 1.20005E-5 41665 0 NA
5-148715270-G-A p.Val756Val synonymous AFAP1L1 1 83312 1.20031E-5 41656 0 1.64785E-5
5-148715285-G-A p.Lys761Lys splice_region+synonymous AFAP1L1 1 83302 1.20045E-5 41651 0 NA
5-148715289-G-C c.2283+4G>C splice_region AFAP1L1 2 83278 2.40159E-5 41639 0 NA
5-148719563-G-A c.2284-7G>A splice_region AFAP1L1 3 83100 3.61011E-5 41550 0 2.48917E-5
5-148719584-G-A p.Lys766Lys synonymous AFAP1L1 62 83134 7.45784E-4 41567 0 6.87336E-4
5-148719584-G-T p.Lys766Asn missense AFAP1L1 1 83138 1.20282E-5 41569 0 NA