Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-178257388-A-C c.-130A>C 5_prime_UTR_premature_start_codon_gain AGPS 1 35862 2.78847E-5 17931 0 NA
2-178257511-G-T c.-7G>T 5_prime_UTR_premature_start_codon_gain AGPS 2 59468 3.36315E-5 29734 0 2.11497E-5
2-178257513-T-TAGCCATGGCGGAGGCGGC p.Ala5_Ala6insAlaMetAlaGluAlaAla disruptive_inframe_insertion AGPS 2 60000 3.33333E-5 30000 0 1.80473E-4
2-178257522-C-A p.Ala2Glu missense AGPS 1 61592 1.62359E-5 30796 0 NA
2-178257531-C-T p.Ala5Val missense AGPS 1 62820 1.59185E-5 31410 0 0.00684932
2-178257537-C-T p.Ala7Val missense AGPS 13 64268 2.02278E-4 32134 0 0.00105152
2-178257543-G-C p.Gly9Ala missense AGPS 1 65510 1.52648E-5 32755 0 3.19448E-5
2-178257552-G-A p.Gly12Asp missense AGPS 21 66942 3.13704E-4 33471 1 0.00837629
2-178257555-T-TGGGCGC p.Gly16_Ala17dup conservative_inframe_insertion AGPS 1 66982 1.49294E-5 33491 0 1.34412E-5
2-178257556-G-C p.Leu13Phe missense AGPS 2 65236 3.06579E-5 32618 0 NA
2-178257563-G-GGCGCGA p.Ala17_Ser18dup conservative_inframe_insertion AGPS 9 66086 1.36186E-4 33043 0 3.95935E-4
2-178257565-C-T p.Gly16Gly synonymous AGPS 1 65306 1.53125E-5 32653 0 6.4433E-4
2-178257568-G-T p.Ala17Ala synonymous AGPS 1 66300 1.5083E-5 33150 0 NA
2-178257571-C-T p.Ser18Ser synonymous AGPS 16 67124 2.38365E-4 33562 0 6.08467E-4
2-178257572-T-G p.Tyr19Asp missense AGPS 1 67500 1.48148E-5 33750 0 6.78113E-6
2-178257575-G-A p.Gly20Arg missense AGPS 1 68164 1.46705E-5 34082 0 3.38103E-5
2-178257577-G-C p.Gly20Gly synonymous AGPS 1 68854 1.45235E-5 34427 0 NA
2-178257581-GC-AG p.Ala22Arg missense AGPS 28 69374 4.03609E-4 34687 1 NA
2-178257581-G-A p.Ala22Thr missense AGPS 8 69372 1.1532E-4 34686 0 0.00106157
2-178257585-C-CGGACCG p.Arg27_Asp28dup disruptive_inframe_insertion AGPS 4 68986 5.79828E-5 34493 0 NA
2-178257590-C-T p.Arg25Trp missense AGPS 2 71158 2.81065E-5 35579 0 1.97759E-4
2-178257591-G-C p.Arg25Pro missense AGPS 1 71438 1.39982E-5 35719 0 NA
2-178257597-G-GGGACCC p.Pro31_Asp32dup disruptive_inframe_insertion AGPS 2 72398 2.76251E-5 36199 0 3.2076E-5
2-178257600-A-T p.Asp28Val missense AGPS 3 72710 4.12598E-5 36355 0 0.00488599
2-178257600-A-ACCCGGACCCGGACCGCGC p.Pro29_Ala34dup conservative_inframe_insertion AGPS 1 72710 1.37533E-5 36355 0 NA
2-178257601-C-T p.Asp28Asp synonymous AGPS 1 72944 1.37091E-5 36472 0 NA
2-178257608-CC-TT p.Pro31Leu missense AGPS 1 73726 1.35637E-5 36863 0 NA
2-178257612-A-ACCCGGG p.Asp32_Arg33insProGly disruptive_inframe_insertion AGPS 6 73972 8.11118E-5 36986 0 1.93661E-4
2-178257613-C-G p.Asp32Glu missense AGPS 3 74102 4.04847E-5 37051 0 NA
2-178257617-G-A p.Ala34Thr missense AGPS 4 74394 5.37678E-5 37197 0 NA
2-178257632-C-T p.Arg39Trp missense AGPS 12 75838 1.58232E-4 37919 0 8.42034E-5
2-178257644-G-A p.Gly43Ser missense AGPS 6 76668 7.82595E-5 38334 0 1.27853E-4
2-178257663-C-T p.Pro49Leu missense AGPS 1 77176 1.29574E-5 38588 0 1.60617E-4
2-178257664-C-T p.Pro49Pro synonymous AGPS 665 77152 0.00861935 38576 5 0.0113433
2-178257665-C-T p.Arg50Trp missense AGPS 67 77220 8.67651E-4 38610 1 0.00127939
2-178257666-G-A p.Arg50Gln missense AGPS 5 77244 6.47299E-5 38622 0 1.44199E-4
2-178257666-G-T p.Arg50Leu missense AGPS 1 77244 1.2946E-5 38622 0 NA
2-178257670-G-A p.Glu51Glu synonymous AGPS 2 77334 2.58618E-5 38667 0 7.91264E-5
2-178257674-C-T p.Leu53Leu synonymous AGPS 8 77380 1.03386E-4 38690 0 3.83068E-4
2-178257714-C-T p.Ala66Val missense AGPS 1 77208 1.2952E-5 38604 0 7.64643E-5
2-178257719-A-T p.Thr68Ser missense AGPS 1 77220 1.295E-5 38610 0 NA
2-178257721-G-C p.Thr68Thr synonymous AGPS 2 77228 2.58973E-5 38614 0 NA
2-178257724-A-G p.Ala69Ala synonymous AGPS 1445 77134 0.0187336 38567 30 0.0383873
2-178257731-A-G p.Thr72Ala missense AGPS 68 77000 8.83117E-4 38500 0 0.00610687
2-178257737-A-T p.Thr74Ser missense AGPS 4 76934 5.19926E-5 38467 0 2.14225E-4
2-178257740-C-T p.Pro75Ser missense AGPS 1 76926 1.29995E-5 38463 0 NA
2-178257742-C-A p.Pro75Pro synonymous AGPS 1 76928 1.29992E-5 38464 0 NA
2-178257747-C-G p.Ala77Gly missense AGPS 1 76832 1.30154E-5 38416 0 NA
2-178257748-G-A p.Ala77Ala synonymous AGPS 12 76836 1.56177E-4 38418 0 3.18878E-4
2-178257750-A-G p.Gln78Arg missense AGPS 1 76814 1.30185E-5 38407 0 1.39179E-4
2-178257756-C-T p.Ser80Leu missense AGPS 2 76762 2.60546E-5 38381 0 6.92233E-5
2-178257760-C-T p.Gly81Gly synonymous AGPS 3 76724 3.91012E-5 38362 0 3.18796E-5
2-178257762-C-G p.Thr82Ser missense AGPS 1 76744 1.30303E-5 38372 0 NA
2-178257775-G-A p.Lys86Lys splice_region+synonymous AGPS 1 76738 1.30314E-5 38369 0 NA
2-178257778-G-GCAAGAAGTTATGAAATGGAATGGATGGGGA c.260+1_260+2insCAAGAAGTTATGAAATGGAATGGATGGGGA splice_donor AGPS 1 76726 1.30334E-5 38363 0 NA
2-178257778-G-GCAAGAAGTTATGAAATGGAATGGATGGGGATATAA c.260+1_260+2insCAAGAAGTTATGAAATGGAATGGATGGGGATATAA splice_donor AGPS 2 76726 2.60668E-5 38363 1 NA
2-178284992-A-C c.261-5A>C splice_region AGPS 695 82270 0.00844779 41135 13 0.0175069
2-178284993-C-T c.261-4C>T splice_region AGPS 1 82314 1.21486E-5 41157 0 NA
2-178285008-T-C p.Met91Thr missense AGPS 1 82526 1.21174E-5 41263 0 NA
2-178285014-G-T p.Trp93Leu missense AGPS 1 82562 1.21121E-5 41281 0 NA
2-178285060-G-A p.Lys108Lys synonymous AGPS 5 82652 6.04946E-5 41326 0 8.24987E-6
2-178285061-G-A p.Gly109Ser missense AGPS 2 82646 2.41996E-5 41323 0 NA
2-178285078-T-C p.Thr114Thr synonymous AGPS 1 82578 1.21098E-5 41289 0 NA
2-178285091-C-G c.350+5C>G splice_region AGPS 1 82416 1.21336E-5 41208 0 NA
2-178285092-C-T c.350+6C>T splice_region AGPS 1 82406 1.2135E-5 41203 0 3.20328E-5
2-178299050-C-G c.351-5C>G splice_region AGPS 2 83040 2.40848E-5 41520 0 8.4035E-6
2-178299062-C-G p.Leu120Val missense AGPS 3 83132 3.60872E-5 41566 0 7.97703E-6
2-178299109-C-G p.Thr135Thr synonymous AGPS 1 83166 1.20241E-5 41583 0 3.18634E-5
2-178299122-G-C p.Val140Leu missense AGPS 1 83142 1.20276E-5 41571 0 1.19553E-5
2-178299139-C-G p.Thr145Thr synonymous AGPS 4 83080 4.81464E-5 41540 0 3.18431E-5
2-178299146-G-GCA c.441+1_441+2insCA splice_donor AGPS 2 83032 2.40871E-5 41516 1 NA
2-178299146-G-GCATCCTTAAATCCTAGTGATACACCTCC c.441+1_441+2insCATCCTTAAATCCTAGTGATACACCTCC splice_donor AGPS 2 83032 2.40871E-5 41516 1 NA
2-178299146-G-GCATCCTTAAATCCTAGTGATACACCTCCTTCTGT c.441+1_441+2insCATCCTTAAATCCTAGTGATACACCTCCTTCTGT splice_donor AGPS 2 83032 2.40871E-5 41516 1 NA
2-178299146-G-GCATCCTTAAATCCTAGTGATACACCTCCTTC c.441+1_441+2insCATCCTTAAATCCTAGTGATACACCTCCTTC splice_donor AGPS 2 83032 2.40871E-5 41516 1 NA
2-178301496-C-G p.Ser149Cys missense AGPS 1 82710 1.20904E-5 41355 0 NA
2-178301502-A-G p.Asn151Ser missense AGPS 1 82776 1.20808E-5 41388 0 NA
2-178301515-A-T p.Thr155Thr synonymous AGPS 1 82856 1.20691E-5 41428 0 6.26566E-4
2-178301563-T-G p.Thr171Thr synonymous AGPS 2 83028 2.40883E-5 41514 0 3.98702E-6
2-178301572-A-G p.Ser174Ser synonymous AGPS 4 83042 4.81684E-5 41521 0 3.98705E-5
2-178301589-A-G p.Asp180Gly missense AGPS 2 83094 2.40691E-5 41547 0 6.37633E-5
2-178301599-A-G p.Val183Val synonymous AGPS 1 83104 1.20331E-5 41552 0 8.27815E-6
2-178301611-TGGTAAGTTACTTTATATTAGCCCTATTTATTTTTAACAAAAAAATTCTATATTTTAAGCTGTTTTTGTGTTTTTCTTTTTTTTAACCACAAAACA-T p.Gly188fs frameshift AGPS 10 83126 1.20299E-4 41563 4 NA
2-178301617-G-C c.562+5G>C splice_region AGPS 1 83102 1.20334E-5 41551 0 3.99237E-6
2-178301701-A-G c.563-7A>G splice_region AGPS 1 83168 1.20239E-5 41584 0 NA
2-178301751-T-G p.Phe202Leu missense AGPS 3 83250 3.6036E-5 41625 0 3.18573E-5
2-178301756-G-A p.Arg204Gln missense AGPS 1 83232 1.20146E-5 41616 0 NA
2-178301782-A-ACATGCCATGATGATGTAGTTAAGATTGT c.637_637+1insCATGCCATGATGATGTAGTTAAGATTGT splice_donor AGPS 2 83220 2.40327E-5 41610 1 NA
2-178301782-A-ACAT c.637_637+1insCAT splice_donor AGPS 4 83220 4.80654E-5 41610 2 NA
2-178305710-G-T p.Val219Phe missense AGPS 2 83024 2.40894E-5 41512 0 3.18776E-5
2-178305764-G-GGAGGAACAA c.709+1_709+2insAGGAACAAG splice_donor AGPS 2 82992 2.40987E-5 41496 1 NA
2-178307152-T-C p.Tyr243His missense AGPS 1 83222 1.20161E-5 41611 0 4.37532E-5
2-178307157-C-G p.Gly244Gly synonymous AGPS 3 83226 3.60464E-5 41613 0 NA
2-178307167-C-A p.Pro248Thr missense AGPS 2 83238 2.40275E-5 41619 0 NA
2-178307169-T-C p.Pro248Pro synonymous AGPS 3 83242 3.60395E-5 41621 0 NA
2-178307180-C-G p.Thr252Arg missense AGPS 1 83200 1.20192E-5 41600 0 NA
2-178307185-A-G p.Thr254Ala missense AGPS 2 83184 2.40431E-5 41592 0 1.65164E-5
2-178310267-G-T c.790-7G>T splice_region AGPS 1 82806 1.20764E-5 41403 0 3.18552E-5
2-178310278-G-A p.Arg265Gln missense AGPS 4 82904 4.82486E-5 41452 0 1.19398E-5
2-178310278-G-T p.Arg265Leu missense AGPS 1 82904 1.20621E-5 41452 0 NA
2-178310311-C-G p.Ala276Gly missense AGPS 1 83002 1.20479E-5 41501 0 NA
2-178310315-T-C p.His277His synonymous AGPS 2 83000 2.40964E-5 41500 0 NA
2-178310321-G-A p.Glu279Glu synonymous AGPS 1 82970 1.20525E-5 41485 0 1.66135E-5
2-178310343-T-G p.Leu287Val missense AGPS 2 82530 2.42336E-5 41265 0 NA
2-178310351-A-G p.Arg289Arg synonymous AGPS 1 82304 1.21501E-5 41152 0 NA
2-178310354-G-GCTTAAAGAAA c.870_870+1insCTTAAAGAAA splice_donor AGPS 3 82208 3.64928E-5 41104 1 NA
2-178310361-T-C c.870+7T>C splice_region AGPS 3 81828 3.66623E-5 40914 0 NA
2-178326641-T-C p.Cys297Cys synonymous AGPS 3 83348 3.59937E-5 41674 0 9.14637E-5
2-178326666-G-A p.Glu306Lys missense AGPS 2 83362 2.39917E-5 41681 0 NA
2-178326669-T-G p.Phe307Val missense AGPS 1 83364 1.19956E-5 41682 0 NA
2-178326671-C-T p.Phe307Phe synonymous AGPS 8 83360 9.59693E-5 41680 0 1.11344E-4
2-178326701-C-T p.Arg317Arg synonymous AGPS 6 83348 7.19873E-5 41674 0 1.60339E-4
2-178326710-C-T p.Gly320Gly synonymous AGPS 1 83342 1.19988E-5 41671 0 NA
2-178326716-G-A p.Lys322Lys synonymous AGPS 1 83340 1.1999E-5 41670 0 NA
2-178326725-C-A p.Ile325Ile synonymous AGPS 2 83334 2.39998E-5 41667 0 2.38608E-5
2-178326732-A-ATTGATATTTGAATTT p.Asn328delinsIleAspIleTerIleTyr stop_gained AGPS 1 83314 1.20028E-5 41657 0 NA
2-178326746-G-A p.Leu332Leu splice_region+synonymous AGPS 2 83246 2.40252E-5 41623 0 NA
2-178326748-T-TGGTTCATATAAAAATGGTAACACCTAGAGGTATAATAGA c.996+2_996+3insGGTTCATATAAAAATGGTAACACCTAGAGGTATAATAGA splice_region AGPS 1 83242 1.20132E-5 41621 0 NA
2-178326753-A-G c.996+7A>G splice_region AGPS 3 83198 3.60586E-5 41599 0 2.39294E-5
2-178333158-A-G p.Lys337Lys synonymous AGPS 13 82970 1.56683E-4 41485 0 3.30153E-5
2-178333176-T-C p.Gly343Gly synonymous AGPS 12 83092 1.44418E-4 41546 0 9.15634E-5
2-178333181-TAGAAAAA-T p.Glu346fs frameshift AGPS 1 83110 1.20322E-5 41555 0 NA
2-178333190-G-A p.Ser348Asn missense AGPS 2 83132 2.40581E-5 41566 0 NA
2-178333205-G-A p.Arg353His missense AGPS 1 83136 1.20285E-5 41568 0 8.24647E-6
2-178333227-C-T p.Ile360Ile synonymous AGPS 3 83110 3.60967E-5 41555 0 3.18878E-5
2-178333233-C-T p.His362His synonymous AGPS 29 83076 3.49078E-4 41538 0 8.61024E-4
2-178333244-G-A p.Gly366Glu missense AGPS 1 83032 1.20435E-5 41516 0 NA
2-178346783-T-A c.1106-4T>A splice_region AGPS 2 82800 2.41546E-5 41400 0 1.66706E-5
2-178346810-G-A p.Ala377Thr missense AGPS 1 82944 1.20563E-5 41472 0 NA
2-178346816-A-G p.Ile379Val missense AGPS 2 82978 2.41028E-5 41489 0 3.98467E-6
2-178346833-C-A p.Val384Val synonymous AGPS 7 82996 8.43414E-5 41498 0 6.73451E-4
2-178346836-T-C p.Pro385Pro synonymous AGPS 1 82994 1.20491E-5 41497 0 NA
2-178346844-A-G p.Gln388Arg missense AGPS 2 82966 2.41063E-5 41483 0 NA
2-178346845-A-G p.Gln388Gln synonymous AGPS 3 82968 3.61585E-5 41484 0 NA
2-178346853-G-A p.Gly391Asp missense AGPS 1 82940 1.20569E-5 41470 0 NA
2-178346854-C-G p.Gly391Gly synonymous AGPS 534 82922 0.00643979 41461 5 0.0140037
2-178346885-G-A p.Val402Ile missense AGPS 12 82686 1.45127E-4 41343 0 0.00125471
2-178346890-C-T p.Ala403Ala synonymous AGPS 3 82640 3.6302E-5 41320 0 6.00786E-5
2-178346914-G-GAGATGTGCTCCGGCATCTATTCGCCTCATGGACAACAAGCA c.1233_1233+1insAGATGTGCTCCGGCATCTATTCGCCTCATGGACAACAAGCA splice_donor AGPS 4 81586 4.9028E-5 40793 2 NA
2-178346919-A-G c.1233+5A>G splice_region AGPS 51 81184 6.28203E-4 40592 0 0.00173477
2-178357870-A-C c.1234-6A>C splice_region AGPS 1 82414 1.21339E-5 41207 0 NA
2-178357886-C-T p.Pro415Leu missense AGPS 2 82584 2.42178E-5 41292 0 6.7931E-5
2-178357887-G-A p.Pro415Pro synonymous AGPS 1 82610 1.21051E-5 41305 0 6.25E-4
2-178357911-C-T p.Asn423Asn synonymous AGPS 2 82820 2.41488E-5 41410 0 NA
2-178357928-G-GTCATGCTCT c.1285+1_1285+2insTCATGCTCT splice_donor AGPS 3 82786 3.6238E-5 41393 1 NA
2-178362407-CTCT-C c.1286-9_1286-7delTCT splice_region AGPS 4 79116 5.05587E-5 39558 0 1.03722E-5
2-178362409-CTTCTT-C c.1286-7_1286-3delTTCTT splice_region AGPS 1 80012 1.24981E-5 40006 0 3.23185E-5
2-178362438-T-A p.Val436Asp missense AGPS 1 81188 1.23171E-5 40594 0 NA
2-178362454-A-G p.Thr441Thr synonymous AGPS 2 81404 2.45688E-5 40702 0 1.91876E-5
2-178362458-T-A p.Phe443Ile missense AGPS 2 81408 2.45676E-5 40704 0 NA
2-178362466-C-T p.Asp445Asp synonymous AGPS 9 81230 1.10797E-4 40615 0 0.00195822
2-178362467-G-A p.Gly446Arg missense AGPS 1 81158 1.23216E-5 40579 0 1.01276E-5
2-178362481-T-G p.Phe450Leu missense AGPS 5 81180 6.15915E-5 40590 0 NA
2-178364339-T-G c.1363-7T>G splice_region AGPS 1 82276 1.21542E-5 41138 0 3.2041E-5
2-178364342-G-T c.1363-4G>T splice_region AGPS 2 82092 2.43629E-5 41046 0 0.0288945
2-178364342-GTAG-TTTT c.1363-4_1363-1delGTAGinsTTTT splice_acceptor AGPS 8 82146 9.73876E-5 41073 0 NA
2-178364342-GTA-TTT c.1363-4_1363-2delGTAinsTTT splice_acceptor AGPS 3 82160 3.65141E-5 41080 0 NA
2-178364345-G-T c.1363-1G>T splice_acceptor AGPS 1 82444 1.21294E-5 41222 0 0.020625
2-178364361-C-T p.Pro460Ser missense AGPS 1 82846 1.20706E-5 41423 0 3.19813E-5
2-178364363-A-C p.Pro460Pro synonymous AGPS 117 82888 0.00141154 41444 1 0.0060423
2-178364384-A-G p.Thr467Thr synonymous AGPS 1 83026 1.20444E-5 41513 0 1.65235E-5
2-178364404-G-T p.Arg474Leu missense AGPS 1 83072 1.20378E-5 41536 0 NA
2-178364420-A-G p.Gln479Gln synonymous AGPS 5 83116 6.01569E-5 41558 0 1.89775E-4
2-178364422-A-G p.His480Arg missense AGPS 1 83110 1.20322E-5 41555 0 3.98283E-6
2-178364431-A-G p.Gln483Arg missense AGPS 1 83088 1.20354E-5 41544 0 NA
2-178364435-G-A p.Val484Val synonymous AGPS 2 83070 2.40761E-5 41535 0 8.25641E-6
2-178364447-TGCAAAATTTGGG-T p.Ala489fs frameshift AGPS 1 83014 1.20462E-5 41507 0 NA
2-178364452-A-ATACACTG p.Lys490fs frameshift AGPS 1 82978 1.20514E-5 41489 0 NA
2-178364458-G-GTGGGTTGGCAGCTGGAGAAGATAATGGACAGAGAGGTTATTT c.1475_1475+1insTGGGTTGGCAGCTGGAGAAGATAATGGACAGAGAGGTTATTT splice_donor AGPS 2 82906 2.41237E-5 41453 1 NA
2-178364458-G-GTGGGTTGGCAGCTGGAGAAGATAATGGACAGAGAGGTTATTTGCT c.1475_1475+1insTGGGTTGGCAGCTGGAGAAGATAATGGACAGAGAGGTTATTTGCT splice_donor AGPS 6 82906 7.23711E-5 41453 3 NA
2-178370223-TTTAA-T c.1476-10_1476-7delTTAA splice_region AGPS 1 82958 1.20543E-5 41479 0 NA
2-178370297-C-T p.Tyr513Tyr synonymous AGPS 1 83022 1.2045E-5 41511 0 6.25E-4
2-178370301-C-A p.Arg515Arg splice_region+synonymous AGPS 1 83004 1.20476E-5 41502 0 NA
2-178370304-G-GACTTGGCTTTGGAATACTATGTATTAGGAGAATCTTTTGAGACTTCTGCTCCT c.1545+1_1545+2insACTTGGCTTTGGAATACTATGTATTAGGAGAATCTTTTGAGACTTCTGCTCCT splice_donor AGPS 2 82984 2.4101E-5 41492 1 NA
2-178372717-A-G p.Tyr522Cys missense AGPS 3 83048 3.61237E-5 41524 0 3.18492E-5
2-178372721-A-G p.Val523Val synonymous AGPS 2 83048 2.40825E-5 41524 0 6.37064E-5
2-178372727-A-G p.Gly525Gly synonymous AGPS 3 83056 3.61202E-5 41528 0 NA
2-178372730-A-C p.Glu526Asp missense AGPS 1 83052 1.20406E-5 41526 0 1.64954E-5
2-178372746-G-A p.Ala532Thr missense AGPS 3 83036 3.61289E-5 41518 0 3.97981E-6
2-178372765-A-G c.1607+6A>G splice_region AGPS 1 82940 1.20569E-5 41470 0 NA
2-178378556-T-C p.Asp539Asp synonymous AGPS 1 83028 1.20441E-5 41514 0 3.18857E-5
2-178378568-T-C p.Asn543Asn synonymous AGPS 5 83068 6.01917E-5 41534 0 4.77589E-5
2-178378569-G-A p.Val544Ile missense AGPS 1 83072 1.20378E-5 41536 0 NA
2-178378571-A-G p.Val544Val synonymous AGPS 2 83080 2.40732E-5 41540 0 4.14488E-4
2-178378577-A-G p.Glu546Glu synonymous AGPS 1 83104 1.20331E-5 41552 0 NA
2-178378595-C-T p.Cys552Cys synonymous AGPS 1 83120 1.20308E-5 41560 0 NA
2-178378601-G-A p.Glu554Glu synonymous AGPS 1 83096 1.20343E-5 41548 0 3.97874E-6
2-178378603-A-G p.Lys555Arg missense AGPS 2 83088 2.40709E-5 41544 0 6.36902E-5
2-178378604-G-A p.Lys555Lys synonymous AGPS 1 83082 1.20363E-5 41541 0 2.47415E-5
2-178378625-T-A p.Phe562Leu missense AGPS 1 82996 1.20488E-5 41498 0 NA
2-178378637-G-GGTGACGCAGACTTACGATGCAGGTGCTTGTATCTACT c.1697+1_1697+2insGTGACGCAGACTTACGATGCAGGTGCTTGTATCTACT splice_donor AGPS 2 82862 2.41365E-5 41431 1 NA
2-178378637-G-GGTGACGCAGACTTACGATGCAGGTGCTTGTATCTACTTC c.1697+1_1697+2insGTGACGCAGACTTACGATGCAGGTGCTTGTATCTACTTC splice_donor AGPS 2 82862 2.41365E-5 41431 0 NA
2-178378637-G-GGTGACGCAGACTTACGATGCAGGTGCTTGTATC c.1697+1_1697+2insGTGACGCAGACTTACGATGCAGGTGCTTGTATC splice_donor AGPS 4 82862 4.8273E-5 41431 2 NA
2-178386003-G-A p.Thr568Thr synonymous AGPS 205 83130 0.00246602 41565 1 0.00672189
2-178386018-A-G p.Ala573Ala synonymous AGPS 1 83190 1.20207E-5 41595 0 NA
2-178386028-A-G p.Ile577Val missense AGPS 1 83206 1.20184E-5 41603 0 7.95881E-6
2-178386045-C-G p.Ala582Ala synonymous AGPS 1 83228 1.20152E-5 41614 0 8.26952E-6
2-178386067-G-C p.Asp590His missense AGPS 2 83206 2.40367E-5 41603 0 6.36821E-5
2-178386073-C-T p.Leu592Leu synonymous AGPS 1 83178 1.20224E-5 41589 0 8.27691E-6
2-178386078-C-T p.Thr593Thr synonymous AGPS 7 83140 8.41953E-5 41570 0 2.78711E-5
2-178388488-G-A p.Glu604Lys missense AGPS 3 82702 3.62748E-5 41351 0 NA
2-178388539-C-A c.1855+6C>A splice_region AGPS 1 82468 1.21259E-5 41234 0 3.18857E-5
2-178402838-T-A p.Ile631Asn missense AGPS 1 83218 1.20166E-5 41609 0 NA
2-178402848-C-T p.Val634Val synonymous AGPS 2 83232 2.40292E-5 41616 0 1.64948E-5
2-178402854-T-C p.Phe636Phe synonymous AGPS 1 83234 1.20143E-5 41617 0 3.58206E-5
2-178402881-T-C p.Tyr645Tyr synonymous AGPS 1 83186 1.20213E-5 41593 0 NA
2-178402892-A-G p.Asn649Ser missense AGPS 2 83150 2.40529E-5 41575 0 5.17598E-5
2-178402913-A-C p.Asn656Thr missense AGPS 1 83024 1.20447E-5 41512 0 NA