Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-1354486-C-G p.Thr398Thr synonymous ANKRD65 1 78184 1.27903E-5 39092 0 NA
1-1354486-C-T p.Thr398Thr synonymous ANKRD65 1 78184 1.27903E-5 39092 0 NA
1-1354487-G-A p.Thr398Met missense ANKRD65 3 78260 3.83338E-5 39130 0 1.27486E-4
1-1354493-T-A p.Glu396Val missense ANKRD65 20 78530 2.5468E-4 39265 0 3.82555E-4
1-1354495-T-C p.Ile395Met missense ANKRD65 221 78600 0.0028117 39300 1 0.0129108
1-1354500-C-T p.Gly394Ser missense ANKRD65 2 78736 2.54013E-5 39368 0 1.86637E-4
1-1354514-TC-T p.Glu389fs frameshift ANKRD65 43 78840 5.45408E-4 39420 0 0.00117509
1-1354514-T-TC p.Glu389fs frameshift ANKRD65 3 78836 3.80537E-5 39418 0 7.15861E-5
1-1354515-C-G p.Glu389Gln missense ANKRD65 13109 77178 0.169854 38589 2281 0.281533
1-1354516-C-G p.Gly388Gly synonymous ANKRD65 43 78912 5.44911E-4 39456 0 9.87953E-4
1-1354519-C-G c.*95G>C splice_region ANKRD65 6 78948 7.59994E-5 39474 0 9.07644E-5
1-1354519-C-T c.*95G>A splice_region ANKRD65 3 78948 3.79997E-5 39474 0 0.00140154
1-1354519-C-A c.*95G>T splice_region ANKRD65 4 78948 5.06663E-5 39474 0 2.14179E-4
1-1354520-C-A p.Gly387Val missense ANKRD65 13 78956 1.64649E-4 39478 0 1.25264E-4
1-1354520-C-T p.Gly387Glu missense ANKRD65 2 78956 2.53306E-5 39478 0 6.95914E-5
1-1354520-C-G p.Gly387Ala missense ANKRD65 14 78958 1.77309E-4 39479 0 0.00121359
1-1354521-C-T p.Gly387Arg missense ANKRD65 8 78984 1.01286E-4 39492 0 4.16048E-5
1-1354521-C-A p.Gly387Trp missense ANKRD65 1 78984 1.26608E-5 39492 0 1.03842E-4
1-1354525-A-G p.Leu385Leu synonymous ANKRD65 1 79008 1.26569E-5 39504 0 NA
1-1354530-C-A p.Glu384* stop_gained ANKRD65 1 79054 1.26496E-5 39527 0 3.18573E-5
1-1354534-C-G p.Leu382Leu synonymous ANKRD65 1 79070 1.2647E-5 39535 0 NA
1-1354535-A-G p.Leu382Pro missense ANKRD65 2 79096 2.52857E-5 39548 0 NA
1-1354537-C-T p.Ala381Ala synonymous ANKRD65 8 79064 1.01184E-4 39532 0 6.25E-4
1-1354538-G-A p.Ala381Val missense ANKRD65 336 79068 0.00424951 39534 1 0.024375
1-1354540-C-T p.Gln380Gln synonymous ANKRD65 1 79124 1.26384E-5 39562 0 NA
1-1354542-G-A p.Gln380* stop_gained ANKRD65 1 79126 1.26381E-5 39563 0 6.72622E-6
1-1354551-C-G p.Asp377His missense ANKRD65 6 79178 7.57786E-5 39589 0 4.02566E-5
1-1354551-C-A p.Asp377Tyr missense ANKRD65 23 79178 2.90485E-4 39589 0 0.00125
1-1354552-C-A p.Gly376Gly synonymous ANKRD65 5 79208 6.31249E-5 39604 0 6.70493E-6
1-1354553-C-G p.Gly376Ala missense ANKRD65 1 79222 1.26228E-5 39611 0 NA
1-1354558-A-G p.Pro374Pro synonymous ANKRD65 3 79222 3.78683E-5 39611 0 NA
1-1354561-C-T p.Met373Ile missense ANKRD65 1 79220 1.26231E-5 39610 0 6.68467E-6
1-1354570-C-T p.Val370Val synonymous ANKRD65 78 79296 9.83656E-4 39648 0 0.00146921
1-1354575-C-T p.Glu369Lys missense ANKRD65 2 79350 2.52048E-5 39675 0 NA
1-1354575-C-A p.Glu369* stop_gained ANKRD65 1 79350 1.26024E-5 39675 0 NA
1-1354576-G-A p.Ala368Ala synonymous ANKRD65 1 79390 1.2596E-5 39695 0 6.65212E-6
1-1354578-C-T p.Ala368Thr missense ANKRD65 2 79436 2.51775E-5 39718 1 NA
1-1354589-C-T p.Arg364Gln missense ANKRD65 3 79560 3.77074E-5 39780 0 4.54486E-4
1-1354590-G-A p.Arg364Trp missense ANKRD65 46 79578 5.78049E-4 39789 1 0.004375
1-1354594-A-G p.Thr362Thr synonymous ANKRD65 11682 79138 0.147616 39569 1478 0.211296
1-1354607-C-T p.Gly358Glu missense ANKRD65 1 79762 1.25373E-5 39881 0 NA
1-1354609-T-G p.Arg357Arg synonymous ANKRD65 1 79790 1.25329E-5 39895 0 NA
1-1354611-G-A p.Arg357* stop_gained ANKRD65 2 79812 2.50589E-5 39906 0 6.6045E-6
1-1354618-C-T p.Cys174Tyr missense ANKRD65 1 79880 1.25188E-5 39940 0 6.37389E-5
1-1354625-C-T p.Gly172Ser missense ANKRD65 3 79984 3.75075E-5 39992 0 1.97252E-5
1-1354629-C-T p.Val351Met missense ANKRD65 3 80010 3.74953E-5 40005 0 6.37349E-5
1-1354631-G-A p.Pro170Ser missense ANKRD65 1 80034 1.24947E-5 40017 0 NA
1-1354639-A-G p.Met167Thr missense ANKRD65 1 80098 1.24847E-5 40049 0 NA
1-1354642-C-T p.Gly166Asp missense ANKRD65 2 80118 2.49632E-5 40059 0 NA
1-1354644-C-A p.Glu165Asp missense ANKRD65 2 80188 2.49414E-5 40094 0 6.3743E-5
1-1354644-C-T p.Gly346Arg missense ANKRD65 1 80188 1.24707E-5 40094 0 NA
1-1354646-C-T p.Glu165Lys missense ANKRD65 2 80164 2.49489E-5 40082 0 5.84249E-5
1-1354651-T-C p.Gln163Arg missense ANKRD65 1 80244 1.2462E-5 40122 0 6.54219E-6
1-1354654-A-C p.Leu162Arg missense ANKRD65 2 80258 2.49196E-5 40129 0 NA
1-1354664-A-AG p.Tyr159fs frameshift ANKRD65 1 80282 1.24561E-5 40141 0 3.18918E-5
1-1354665-G-A p.Pro158Pro synonymous ANKRD65 2 80340 2.48942E-5 40170 0 5.66765E-5
1-1354676-C-T p.Glu155Lys missense ANKRD65 1 80302 1.2453E-5 40151 0 6.53262E-6
1-1354677-G-A p.Arg335* stop_gained ANKRD65 1 80392 1.2439E-5 40196 0 2.6123E-5
1-1354686-C-T p.Gly332Ser missense ANKRD65 3 80534 3.72513E-5 40267 0 0.00260417
1-1354687-G-A p.Pro151Leu missense ANKRD65 43 80536 5.33923E-4 40268 0 0.00102047
1-1354703-G-A p.Pro146Ser missense ANKRD65 1 80562 1.24128E-5 40281 0 NA
1-1354707-C-T p.Gly325Ser missense ANKRD65 1 80612 1.24051E-5 40306 0 NA
1-1354708-C-T p.Gly144Glu missense ANKRD65 3 80598 3.72218E-5 40299 0 NA
1-1354714-C-T p.Trp142* stop_gained ANKRD65 1 80624 1.24033E-5 40312 0 1.3049E-5
1-1354717-C-G p.Cys141Ser missense ANKRD65 207 80582 0.00256881 40291 2 0.0104439
1-1354723-G-T p.Ala139Asp missense ANKRD65 2 80582 2.48194E-5 40291 0 1.30567E-5
1-1354725-C-T p.Gly319Ser missense ANKRD65 9 80576 1.11696E-4 40288 0 1.2751E-4
1-1354726-G-A p.Pro138Leu missense ANKRD65 10 80578 1.24103E-4 40289 0 2.23086E-4
1-1354737-C-T p.Val315Met missense ANKRD65 1 80564 1.24125E-5 40282 0 NA
1-1354738-G-A p.Thr134Met missense ANKRD65 2 80534 2.48342E-5 40267 0 9.56511E-5
1-1354738-G-C p.Thr134Arg missense ANKRD65 1 80534 1.24171E-5 40267 0 NA
1-1354745-T-G p.Lys132Gln missense ANKRD65 1 80522 1.2419E-5 40261 0 NA
1-1354748-C-T p.Gly131Arg missense ANKRD65 2 80502 2.48441E-5 40251 0 1.2751E-4
1-1354749-G-A p.Arg311Trp missense ANKRD65 4 80480 4.97018E-5 40240 0 1.09158E-4
1-1354753-G-A p.Pro129Leu missense ANKRD65 1 80460 1.24285E-5 40230 0 NA
1-1354756-G-A p.Thr128Met missense ANKRD65 47 80382 5.84708E-4 40191 0 0.00184831
1-1354759-A-G p.Ile127Thr missense ANKRD65 1 80348 1.24459E-5 40174 0 NA
1-1354762-C-G p.Cys126Ser missense ANKRD65 148 80308 0.0018429 40154 1 0.011658
1-1354763-A-G p.Cys126Arg missense ANKRD65 4 80304 4.98107E-5 40152 0 NA
1-1354763-AG-A p.Cys126fs frameshift ANKRD65 2 80304 2.49054E-5 40152 0 5.48366E-5
1-1354766-G-A p.Pro125Ser missense ANKRD65 1 80228 1.24645E-5 40114 0 NA
1-1354773-G-A p.Leu303Phe missense ANKRD65 1 80128 1.248E-5 40064 0 5.51755E-5
1-1354775-C-T p.Ala122Thr missense ANKRD65 2 80018 2.49944E-5 40009 0 NA
1-1354779-G-A p.Pro120Pro synonymous ANKRD65 15 79962 1.87589E-4 39981 0 4.46002E-4
1-1354787-C-T p.Gly118Arg missense ANKRD65 6 79620 7.5358E-5 39810 0 6.37592E-5
1-1354788-G-A p.Arg298Trp missense ANKRD65 1 79550 1.25707E-5 39775 0 4.63202E-5
1-1354789-C-T p.Arg117His missense ANKRD65 1 79472 1.2583E-5 39736 0 6.61997E-6
1-1354790-GCAT-G p.Asp296del disruptive_inframe_deletion ANKRD65 1 79418 1.25916E-5 39709 0 NA
1-1354795-C-T p.Trp115* stop_gained ANKRD65 3 79452 3.77586E-5 39726 0 6.63359E-6
1-1354799-T-TCGGC p.Arg114fs frameshift ANKRD65 1 79260 1.26167E-5 39630 0 NA
1-1354800-C-T p.Glu294Lys missense ANKRD65 1 79250 1.26183E-5 39625 0 6.25E-4
1-1354806-C-T p.Gly292Arg missense ANKRD65 1 79078 1.26457E-5 39539 0 NA
1-1354808-T-C p.Arg111Gly missense ANKRD65 10 79024 1.26544E-4 39512 0 3.44392E-4
1-1354813-G-A p.Ser109Leu missense ANKRD65 1 78782 1.26933E-5 39391 0 6.67094E-6
1-1354816-C-T p.Trp108* stop_gained ANKRD65 19 78820 2.41056E-4 39410 0 6.6896E-4
1-1354816-C-A p.Trp108Leu missense ANKRD65 6 78820 7.61228E-5 39410 0 1.27421E-4
1-1354827-C-A p.Val285Phe missense ANKRD65 1 78288 1.27734E-5 39144 0 3.18492E-5
1-1354827-C-T p.Val285Ile missense ANKRD65 2 78290 2.5546E-5 39145 0 5.37129E-5
1-1354828-G-A p.Pro104Leu missense ANKRD65 8 78206 1.02294E-4 39103 0 8.73104E-5
1-1354835-A-C p.Cys102Gly missense ANKRD65 2 78126 2.55997E-5 39063 0 6.73401E-6
1-1354841-C-T p.Asp100Asn missense ANKRD65 2 77784 2.57122E-5 38892 0 6.37024E-5
1-1354844-C-T p.Glu99Lys missense ANKRD65 372 77532 0.00479802 38766 2 0.0125628
1-1354845-G-A p.Arg279* stop_gained ANKRD65 3 77368 3.87757E-5 38684 0 9.55536E-5
1-1354848-C-T p.Ala278Thr missense ANKRD65 2 77160 2.59202E-5 38580 0 1.24208E-4
1-1354849-G-A p.Pro97Leu missense ANKRD65 3 77122 3.88994E-5 38561 0 3.18471E-5
1-1354849-G-T p.Pro97Gln missense ANKRD65 1 77122 1.29665E-5 38561 0 0.00125
1-1354864-C-T p.Arg92His missense ANKRD65 4 76416 5.23451E-5 38208 0 6.22837E-5
1-1354865-G-A p.Arg92Cys missense ANKRD65 13 76288 1.70407E-4 38144 0 1.59246E-4
1-1354868-G-C p.Leu91Val missense ANKRD65 4 76284 5.24356E-5 38142 0 NA
1-1354871-C-T p.Ala90Thr missense ANKRD65 3 75870 3.95413E-5 37935 0 6.65159E-5
1-1354884-C-T p.Asp266Asn missense ANKRD65 16 75266 2.12579E-4 37633 0 0.0012285
1-1354886-C-G p.Gly85Arg missense ANKRD65 4 75276 5.31378E-5 37638 0 NA
1-1354888-G-A p.Ser84Leu missense ANKRD65 1 75134 1.33096E-5 37567 0 7.10046E-6
1-1354894-T-C p.Gln82Arg missense ANKRD65 6 74720 8.02998E-5 37360 0 0.00123457
1-1354904-C-G p.Gly79Arg missense ANKRD65 1 73740 1.35612E-5 36870 0 NA
1-1354905-C-T p.Gly259Arg missense ANKRD65 3 73598 4.0762E-5 36799 0 1.46699E-5
1-1354906-G-A p.Thr78Met missense ANKRD65 2 73408 2.7245E-5 36704 0 6.3743E-5
1-1354906-G-T p.Thr78Lys missense ANKRD65 1 73408 1.36225E-5 36704 0 1.46742E-5
1-1354920-C-A p.Arg73Ser missense ANKRD65 549 71460 0.00768262 35730 4 0.0154229
1-1354933-G-A c.210-4C>T splice_region ANKRD65 1 69396 1.44101E-5 34698 0 2.41573E-5
1-1354937-A-G c.210-8T>C splice_region ANKRD65 1 68574 1.45828E-5 34287 0 NA
1-1355427-C-T n.102+5G>A splice_region ANKRD65 1 31654 3.15916E-5 15827 0 NA
1-1355427-C-A n.102+5G>T splice_region ANKRD65 6 31654 1.8955E-4 15827 0 3.21295E-5
1-1355428-G-T n.102+4C>A splice_region ANKRD65 3 31656 9.47688E-5 15828 0 NA
1-1355433-T-G p.Gln250Pro missense+splice_region ANKRD65 1 31650 3.15956E-5 15825 0 6.42632E-5
1-1355446-G-A p.Leu246Leu synonymous ANKRD65 183 32108 0.00569951 16054 2 0.0163184
1-1355450-G-T p.Ala244Ala synonymous ANKRD65 1 31750 3.14961E-5 15875 0 NA
1-1355453-C-T p.Ala243Ala synonymous ANKRD65 5 31768 1.57391E-4 15884 0 3.23729E-5
1-1355464-G-T p.Leu240Met missense ANKRD65 1 32040 3.1211E-5 16020 0 3.2514E-5
1-1355464-G-C p.Leu240Val missense ANKRD65 3 32040 9.3633E-5 16020 0 3.2514E-5
1-1355469-G-A p.Thr238Ile missense ANKRD65 3 31708 9.46133E-5 15854 0 8.19403E-5
1-1355477-C-T p.Ala235Ala synonymous ANKRD65 1 31368 3.18796E-5 15684 0 NA
1-1355481-C-A p.Gly234Val missense ANKRD65 2 31280 6.39386E-5 15640 0 NA
1-1355491-C-A p.Ala231Ser missense ANKRD65 1 30636 3.26413E-5 15318 0 3.35886E-5
1-1355496-A-ACCCGCGC p.Val229fs frameshift ANKRD65 1 30364 3.29337E-5 15182 0 NA
1-1355501-C-T p.Ala227Ala synonymous ANKRD65 1 30270 3.3036E-5 15135 0 NA
1-1355502-GC-G p.Ala227fs frameshift ANKRD65 1 30242 3.30666E-5 15121 0 NA
1-1355505-CC-GG p.Gly226Pro missense ANKRD65 1 30170 3.31455E-5 15085 0 NA
1-1355507-G-C p.Arg225Arg synonymous ANKRD65 2 29504 6.77874E-5 14752 0 NA
1-1355509-G-C p.Arg225Gly missense ANKRD65 25 29522 8.46826E-4 14761 0 0.00218963
1-1355511-G-T p.Ala224Glu missense ANKRD65 1 29584 3.38021E-5 14792 0 NA
1-1355524-G-A p.Arg220Cys missense ANKRD65 1 28242 3.54083E-5 14121 0 NA
1-1355529-G-A p.Ala218Val missense ANKRD65 1 27704 3.60959E-5 13852 0 NA
1-1355533-C-A p.Ala217Ser missense ANKRD65 1 26670 3.74953E-5 13335 0 NA
1-1355543-C-G p.Ala213Ala synonymous ANKRD65 1 25298 3.95288E-5 12649 0 NA
1-1355553-G-T p.Ala210Asp missense ANKRD65 79 23798 0.00331961 11899 0 0.00962748
1-1355557-C-G p.Val209Leu missense ANKRD65 11 23108 4.76026E-4 11554 0 8.32145E-4
1-1355561-C-T p.Leu207Leu synonymous ANKRD65 1 22384 4.46748E-5 11192 0 NA
1-1355576-G-A p.Gly202Gly synonymous ANKRD65 2 17256 1.15902E-4 8628 0 NA
1-1355583-C-A p.Gly200Val missense ANKRD65 1879 14354 0.130904 7177 171 0.5
1-1355592-G-A p.Ala197Val missense ANKRD65 2 12772 1.56593E-4 6386 0 NA
1-1355600-C-T p.Glu194Glu synonymous ANKRD65 1 12330 8.1103E-5 6165 0 4.05186E-5
1-1355605-G-A p.Leu193Leu synonymous ANKRD65 1 11972 8.35282E-5 5986 0 NA
1-1355611-C-T p.Ala191Thr missense ANKRD65 6 11654 5.14845E-4 5827 0 0.00113793
1-1355624-C-T p.Ala186Ala synonymous ANKRD65 13 11894 0.00109299 5947 0 0.0238095
1-1355643-G-A p.Ala142Val missense ANKRD65 2 15616 1.28074E-4 7808 0 4.04433E-5
1-1355663-C-T p.Glu135Glu synonymous ANKRD65 13 21628 6.01073E-4 10814 0 0.00227509
1-1355687-C-T p.Pro127Pro synonymous ANKRD65 1 25760 3.88199E-5 12880 0 NA
1-1355688-G-A p.Pro127Leu missense ANKRD65 2 25920 7.71605E-5 12960 0 3.92711E-5
1-1355694-G-A p.Pro125Leu missense ANKRD65 1 26926 3.71388E-5 13463 0 3.89772E-5
1-1355695-G-C p.Pro125Ala missense ANKRD65 1 27080 3.69276E-5 13540 0 1.16695E-4
1-1355697-G-T p.Ala124Asp missense ANKRD65 1 27290 3.66435E-5 13645 0 3.88199E-5
1-1355709-C-A p.Arg120Leu missense ANKRD65 1 28258 3.53882E-5 14129 0 NA
1-1355709-C-G p.Arg120Pro missense ANKRD65 1 28258 3.53882E-5 14129 0 0.00234742
1-1355711-C-T p.Ala119Ala synonymous ANKRD65 1 28318 3.53132E-5 14159 0 1.53433E-4
1-1355718-A-G p.Leu117Pro missense ANKRD65 1 29204 3.42419E-5 14602 0 4.87757E-5
1-1355735-GGCAGCGGCCCAGT-G p.His107fs frameshift ANKRD65 1 31506 3.174E-5 15753 0 NA
1-1355761-G-A p.Leu103Phe missense ANKRD65 2 33868 5.90528E-5 16934 0 NA
1-1355768-C-T p.Gly100Gly synonymous ANKRD65 1 34082 2.9341E-5 17041 0 3.60646E-5
1-1355770-C-T p.Gly100Arg missense ANKRD65 2 34048 5.87406E-5 17024 0 5.66251E-4
1-1355778-G-A p.Ala97Val missense ANKRD65 1 34006 2.94066E-5 17003 0 NA
1-1355783-C-T p.Ala95Ala synonymous ANKRD65 3 33980 8.82872E-5 16990 0 7.10783E-5
1-1355787-G-A p.Ser94Leu missense ANKRD65 1 34008 2.94048E-5 17004 0 NA
1-1355795-G-A p.Arg91Arg synonymous ANKRD65 6 34150 1.75695E-4 17075 0 2.09908E-4
1-1355796-C-T p.Arg91His missense ANKRD65 1307 34074 0.0383577 17037 35 0.198695
1-1355836-A-G p.Trp78Arg missense ANKRD65 1 33364 2.99724E-5 16682 0 NA
1-1355839-C-T p.Ala77Thr missense ANKRD65 2 33302 6.00565E-5 16651 0 NA
1-1355844-T-C p.Glu75Gly missense ANKRD65 1 33114 3.01987E-5 16557 0 NA
1-1355850-AGC-A p.Leu73fs frameshift ANKRD65 2 32202 6.21079E-5 16101 0 NA
1-1355862-C-T p.Gly69Glu missense ANKRD65 5 31046 1.61051E-4 15523 0 3.29294E-5
1-1355866-C-T p.Ala68Thr missense ANKRD65 1 30996 3.22622E-5 15498 0 NA
1-1355890-C-G p.Ala60Pro missense ANKRD65 2 30756 6.5028E-5 15378 0 NA
1-1355893-C-T p.Gly59Arg missense ANKRD65 2 30752 6.50364E-5 15376 0 NA
1-1355895-C-T p.Arg58Gln missense ANKRD65 1 30802 3.24654E-5 15401 0 3.23939E-5
1-1355904-AG-CT p.Leu55Arg missense ANKRD65 5 31340 1.59541E-4 15670 0 NA
1-1355904-A-C p.Leu55Arg missense ANKRD65 3 31340 9.57243E-5 15670 0 0.00353357
1-1355905-G-T p.Leu55Met missense ANKRD65 3 31446 9.54016E-5 15723 0 0.0035461
1-1355905-G-A p.Leu55Leu synonymous ANKRD65 1 31446 3.18005E-5 15723 0 NA
1-1355906-G-A p.Leu54Leu synonymous ANKRD65 1 31364 3.18837E-5 15682 0 NA
1-1355910-C-G p.Arg53Pro missense ANKRD65 1 31376 3.18715E-5 15688 0 1.61384E-4
1-1355913-A-G p.Val52Ala missense ANKRD65 1 32230 3.1027E-5 16115 0 NA
1-1355913-A-C p.Val52Gly missense ANKRD65 1 32230 3.1027E-5 16115 0 NA
1-1355930-C-A p.Arg46Arg synonymous ANKRD65 4 32934 1.21455E-4 16467 0 1.77978E-4
1-1355936-C-G p.Val44Val synonymous ANKRD65 95 33126 0.00286784 16563 1 0.00701754
1-1355959-G-C p.Arg37Gly missense ANKRD65 1 35818 2.79189E-5 17909 0 NA
1-1355961-C-A p.Gly36Val missense ANKRD65 1 36020 2.77624E-5 18010 0 NA
1-1356174-C-T c.209+3G>A splice_region ANKRD65 16 78418 2.04035E-4 39209 0 6.34518E-4
1-1356176-C-A c.209+1G>T splice_donor ANKRD65 1 78528 1.27343E-5 39264 0 6.21118E-5
1-1356187-C-T p.Val67Met missense ANKRD65 1 78986 1.26605E-5 39493 0 0.0019305
1-1356188-G-T p.Ser66Arg missense ANKRD65 1 78910 1.26727E-5 39455 0 6.58562E-6
1-1356188-G-A c.190+8C>T splice_region ANKRD65 1 78910 1.26727E-5 39455 0 1.71743E-4
1-1356195-C-A c.190+1G>T splice_donor ANKRD65 1 79266 1.26157E-5 39633 0 6.56737E-6
1-1356201-C-T p.Arg62Gln missense ANKRD65 1 79386 1.25967E-5 39693 0 1.10072E-4
1-1356201-C-G p.Arg62Pro missense ANKRD65 1 79386 1.25967E-5 39693 0 NA
1-1356202-G-A p.Arg62Trp missense ANKRD65 8 79358 1.00809E-4 39679 0 2.62367E-5
1-1356212-C-A p.Thr58Thr synonymous ANKRD65 3 79704 3.76393E-5 39852 0 1.61568E-4
1-1356221-G-C p.Gly55Gly synonymous ANKRD65 1 79918 1.25128E-5 39959 0 NA
1-1356226-C-A p.Ala54Ser missense ANKRD65 3 80022 3.74897E-5 40011 0 NA
1-1356234-C-T p.Arg51Lys missense ANKRD65 1 80220 1.24657E-5 40110 0 NA
1-1356239-C-G p.Val49Val synonymous ANKRD65 2 80306 2.49047E-5 40153 0 2.09908E-4
1-1356242-G-A p.Ala48Ala synonymous ANKRD65 14 80304 1.74338E-4 40152 0 6.26566E-4
1-1356242-G-T p.Ala48Ala synonymous ANKRD65 1 80306 1.24524E-5 40153 0 1.30208E-5
1-1356244-C-T p.Ala48Thr missense ANKRD65 1 80356 1.24446E-5 40178 0 3.18613E-5
1-1356245-C-T p.Gln47Gln synonymous ANKRD65 1 80380 1.24409E-5 40190 0 NA
1-1356246-T-C p.Gln47Arg missense ANKRD65 2 80382 2.48812E-5 40191 0 NA
1-1356257-C-T p.Gly43Gly synonymous ANKRD65 2 80400 2.48756E-5 40200 0 6.37186E-5
1-1356259-C-T p.Gly43Arg missense ANKRD65 1 80434 1.24326E-5 40217 0 NA
1-1356262-A-G p.Trp42Arg missense ANKRD65 1 80502 1.24221E-5 40251 0 5.18995E-5
1-1356269-G-C p.Val39Val synonymous ANKRD65 1 80552 1.24143E-5 40276 0 3.18796E-5
1-1356270-A-C p.Val39Gly missense ANKRD65 1 80562 1.24128E-5 40281 0 6.49832E-6
1-1356272-A-C p.Val38Val synonymous ANKRD65 1 80584 1.24094E-5 40292 0 6.49882E-6
1-1356275-A-G p.Ser37Ser synonymous ANKRD65 40 80620 4.96155E-4 40310 0 0.0010208
1-1356291-C-T p.Arg32Lys missense ANKRD65 2 80666 2.47936E-5 40333 0 6.49435E-6
1-1356291-C-G p.Arg32Thr missense ANKRD65 1 80666 1.23968E-5 40333 0 6.49435E-6
1-1356293-G-T p.Thr31Thr synonymous ANKRD65 1 80658 1.2398E-5 40329 0 3.18532E-5
1-1356298-C-G p.Gly30Arg missense ANKRD65 4 80656 4.95933E-5 40328 0 NA
1-1356301-G-A p.Leu29Leu synonymous ANKRD65 1 80690 1.23931E-5 40345 0 NA
1-1356310-C-G p.Glu26Gln missense ANKRD65 1 80650 1.23993E-5 40325 0 6.49249E-6
1-1356310-C-T p.Glu26Lys missense ANKRD65 1 80650 1.23993E-5 40325 0 NA
1-1356311-G-A p.Ser25Ser synonymous ANKRD65 171 80642 0.00212048 40321 1 0.00452546
1-1356315-T-C p.Asp24Gly missense ANKRD65 1 80600 1.24069E-5 40300 0 NA
1-1356330-C-G p.Arg19Pro missense ANKRD65 28 80504 3.47809E-4 40252 1 0.00127478
1-1356330-C-T p.Arg19Gln missense ANKRD65 14 80506 1.739E-4 40253 1 1.27478E-4
1-1356331-G-A p.Arg19Trp missense ANKRD65 2 80468 2.48546E-5 40234 0 0.0010837
1-1356333-A-C p.Leu18Arg missense ANKRD65 2 80474 2.48527E-5 40237 0 5.13242E-5
1-1356341-TTCC-T p.Glu15del disruptive_inframe_deletion ANKRD65 202 79856 0.00252955 39928 1 0.00767918
1-1356341-T-TTCCTCC p.Glu14_Glu15dup disruptive_inframe_insertion ANKRD65 21 80366 2.61305E-4 40183 0 5.17063E-5
1-1356346-C-T p.Glu14Lys missense ANKRD65 15 80232 1.86958E-4 40116 0 1.59357E-4
1-1356350-C-T p.Glu12Glu synonymous ANKRD65 2 80138 2.49569E-5 40069 0 NA
1-1356353-C-T p.Glu11Glu synonymous ANKRD65 1 80044 1.24931E-5 40022 0 NA
1-1356385-T-C p.Met1? start_lost ANKRD65 1 78602 1.27223E-5 39301 0 NA
1-1356387-T-TG c.1-3dupC splice_region ANKRD65 3 78480 3.82263E-5 39240 0 3.26511E-5
1-1356388-G-T c.1-3C>A splice_region ANKRD65 8 78400 1.02041E-4 39200 0 6.53134E-5
1-1356388-G-A c.1-3C>T splice_region ANKRD65 5 78400 6.37755E-5 39200 0 3.26567E-5
1-1356388-G-C c.1-3C>G splice_region ANKRD65 1 78400 1.27551E-5 39200 0 1.59378E-4
1-1356389-G-C c.1-4C>G splice_region ANKRD65 15 78352 1.91444E-4 39176 0 6.25782E-4
1-1356389-G-T c.1-4C>A splice_region ANKRD65 4 78356 5.10491E-5 39178 0 1.91241E-4
1-1356390-G-C c.1-5C>G splice_region ANKRD65 8 78310 1.02158E-4 39155 0 2.69687E-4
1-1356393-G-A c.1-8C>T splice_region ANKRD65 429 78086 0.00549394 39043 3 0.00700994
1-1356443-G-A c.-58C>T 5_prime_UTR_premature_start_codon_gain ANKRD65 3 71722 4.18282E-5 35861 0 NA
1-1356506-C-T c.-1+7G>A splice_region ANKRD65 1 49402 2.02421E-5 24701 0 NA
1-1356515-A-C c.-3T>G 5_prime_UTR_premature_start_codon_gain ANKRD65 1 46090 2.16967E-5 23045 0 NA
1-1356531-G-C c.-19C>G 5_prime_UTR_premature_start_codon_gain ANKRD65 2 40254 4.96845E-5 20127 0 NA
1-1356880-T-A c.-368A>T 5_prime_UTR_premature_start_codon_gain ANKRD65 3 2302 0.00130321 1151 0 0.0133538
1-1356941-G-A c.-429C>T 5_prime_UTR_premature_start_codon_gain ANKRD65 1 374 0.0026738 187 0 NA