Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-233320863-C-T c.-47C>T 5_prime_UTR_premature_start_codon_gain ALPI 5 81310 6.14931E-5 40655 0 3.69007E-5
2-233320884-C-T c.-26C>T 5_prime_UTR_premature_start_codon_gain ALPI 4 82130 4.87033E-5 41065 0 2.5854E-5
2-233320910-ATGCAGGGGCCCTGGGTGCTGCTGC-A p.Gln2_Leu9del disruptive_inframe_deletion ALPI 1 82636 1.21013E-5 41318 0 8.35087E-6
2-233320924-G-A p.Trp5* stop_gained ALPI 2 82774 2.41622E-5 41387 0 8.31214E-6
2-233320925-G-GTGC p.Leu10dup conservative_inframe_insertion ALPI 1 82798 1.20776E-5 41399 0 9.56694E-5
2-233320929-T-C p.Leu7Pro missense ALPI 14 82826 1.69029E-4 41413 0 2.23229E-4
2-233320935-T-C p.Leu9Pro missense ALPI 1 82872 1.20668E-5 41436 0 2.11076E-4
2-233320941-G-A p.Gly11Asp missense ALPI 1 82902 1.20624E-5 41451 0 3.98197E-6
2-233320952-C-T p.Gln15* stop_gained ALPI 3 82952 3.61655E-5 41476 0 4.37961E-5
2-233320960-C-A p.Ser17Ser synonymous ALPI 1 82998 1.20485E-5 41499 0 NA
2-233320966-C-T p.Gly19Gly synonymous ALPI 1 82988 1.20499E-5 41494 0 8.26419E-6
2-233320967-G-A p.Val20Ile missense ALPI 491 83004 0.00591538 41502 12 0.0127346
2-233320984-G-A c.67+8G>A splice_region ALPI 1 83068 1.20383E-5 41534 0 3.97867E-6
2-233320993-A-G p.Gln28Gln synonymous ALPI 82 83088 9.86905E-4 41544 0 0.00174667
2-233320997-G-A p.Val30Ile missense ALPI 1 83110 1.20322E-5 41555 0 4.95139E-5
2-233320999-T-C p.Val30Val synonymous ALPI 1 83096 1.20343E-5 41548 0 NA
2-233321003-C-T p.His32Tyr missense ALPI 1 83098 1.2034E-5 41549 0 NA
2-233321009-G-A p.Gly34Arg missense ALPI 3 83084 3.6108E-5 41542 0 1.19382E-5
2-233321011-G-T p.Gly34Gly synonymous ALPI 2 83080 2.40732E-5 41540 0 5.17343E-5
2-233321016-C-G p.Pro36Arg missense ALPI 1 83104 1.20331E-5 41552 0 8.2496E-6
2-233321032-C-G p.Asp41Glu missense ALPI 1 83116 1.20314E-5 41558 0 3.97918E-6
2-233321043-C-T p.Thr45Ile missense ALPI 2 83110 2.40645E-5 41555 0 1.19378E-5
2-233321045-C-T p.Leu46Phe missense ALPI 1 83114 1.20317E-5 41557 0 2.47464E-5
2-233321050-C-T p.Pro47Pro synonymous ALPI 1 83106 1.20328E-5 41553 0 7.95912E-6
2-233321052-T-C p.Leu48Pro missense ALPI 1 83074 1.20375E-5 41537 0 NA
2-233321069-G-A p.Glu26Glu synonymous ALPI 1 83070 1.2038E-5 41535 0 NA
2-233321074-C-T p.Pro28Leu missense ALPI 1 83046 1.20415E-5 41523 0 1.79109E-4
2-233321079-T-C p.Phe30Leu missense ALPI 2 83046 2.4083E-5 41523 0 8.24946E-6
2-233321084-G-A p.Trp31* stop_gained ALPI 2 83048 2.40825E-5 41524 0 NA
2-233321087-C-A p.Asn32Lys missense ALPI 1 83048 1.20412E-5 41524 0 NA
2-233321088-C-T p.Arg33Cys missense ALPI 5 83056 6.02003E-5 41528 0 3.18695E-5
2-233321089-G-T p.Arg33Leu missense ALPI 265 83040 0.00319123 41520 1 0.00653366
2-233321089-G-A p.Arg33His missense ALPI 3 83042 3.61263E-5 41521 0 2.47496E-5
2-233321095-C-G p.Ala35Gly missense ALPI 2 83080 2.40732E-5 41540 0 3.18552E-5
2-233321104-C-T p.Ala38Val missense ALPI 1 83070 1.2038E-5 41535 0 0.00100705
2-233321104-C-A p.Ala38Asp missense ALPI 2 83070 2.40761E-5 41535 0 3.97953E-6
2-233321109-G-C p.Asp40His missense ALPI 3 83084 3.6108E-5 41542 0 4.37724E-5
2-233321130-C-T p.Pro47Ser missense ALPI 1 83100 1.20337E-5 41550 0 5.03525E-4
2-233321142-G-T p.Val51Phe missense ALPI 1 83128 1.20296E-5 41564 0 3.97864E-6
2-233321144-C-G p.Val51Val synonymous ALPI 3 83126 3.60898E-5 41563 0 8.24742E-6
2-233321145-G-A p.Ala52Thr missense ALPI 7 83118 8.42176E-5 41559 0 6.37186E-5
2-233321145-G-T p.Ala52Ser missense ALPI 1 83118 1.20311E-5 41559 0 NA
2-233321153-C-A p.Asn54Lys missense ALPI 5 83132 6.01453E-5 41566 0 0.00151057
2-233321165-C-T p.Phe58Phe synonymous ALPI 2 83166 2.40483E-5 41583 0 NA
2-233321170-G-A p.Gly60Asp missense ALPI 1 83142 1.20276E-5 41571 0 NA
2-233321171-C-T p.Gly60Gly synonymous ALPI 2 83134 2.40575E-5 41567 0 3.18654E-5
2-233321172-G-A p.Asp61Asn missense ALPI 3 83156 3.60768E-5 41578 0 3.58175E-5
2-233321176-G-A c.184+1G>A splice_donor ALPI 2 83152 2.40523E-5 41576 0 2.47623E-4
2-233321294-G-C p.Leu63Phe missense ALPI 1 82998 1.20485E-5 41499 0 NA
2-233321294-G-T p.Leu63Phe missense ALPI 1 82998 1.20485E-5 41499 0 NA
2-233321296-G-A p.Gly64Glu missense ALPI 1 83012 1.20465E-5 41506 0 1.60805E-5
2-233321297-G-T p.Gly64Gly synonymous ALPI 2 83008 2.40941E-5 41504 0 1.27527E-4
2-233321300-G-A p.Val65Val synonymous ALPI 1 82994 1.20491E-5 41497 0 3.18776E-5
2-233321304-A-T p.Thr67Ser missense ALPI 2 82984 2.4101E-5 41492 0 8.87453E-6
2-233321305-C-T p.Thr67Met missense ALPI 3 82968 3.61585E-5 41484 0 9.56755E-5
2-233321321-G-A p.Arg72Arg synonymous ALPI 1 82950 1.20555E-5 41475 0 2.73783E-5
2-233321361-A-G p.Thr86Ala missense ALPI 1 82920 1.20598E-5 41460 0 NA
2-233321362-C-T p.Thr86Met missense ALPI 6 82914 7.23641E-5 41457 0 1.27632E-4
2-233321374-T-C p.Met90Thr missense ALPI 1 82956 1.20546E-5 41478 0 NA
2-233321379-C-T p.Arg92Cys missense ALPI 215 82916 0.00259299 41458 2 0.00551729
2-233321394-G-A p.Ala97Thr missense ALPI 45 82894 5.42862E-4 41447 0 0.00151057
2-233321399-G-C p.Leu98Leu synonymous ALPI 5 82902 6.03122E-5 41451 0 3.19061E-5
2-233321401-CC-AA p.Ser99* stop_gained ALPI 2 82882 2.41307E-5 41441 0 NA
2-233321412-G-A c.300+7G>A splice_region ALPI 1 82834 1.20723E-5 41417 0 NA
2-233321601-G-A c.301-8G>A splice_region ALPI 1 82118 1.21776E-5 41059 0 3.18695E-5
2-233321602-T-C c.301-7T>C splice_region ALPI 1 82168 1.21702E-5 41084 0 3.18776E-5
2-233321604-C-T c.301-5C>T splice_region ALPI 10 82220 1.21625E-4 41110 0 3.20228E-4
2-233321614-C-T p.Tyr102Tyr synonymous ALPI 1 82606 1.21057E-5 41303 0 3.99754E-6
2-233321641-C-T p.Ser111Ser synonymous ALPI 7476 82624 0.0904822 41312 360 0.151875
2-233321655-C-T p.Thr116Met missense ALPI 2 82948 2.41115E-5 41474 0 6.65059E-5
2-233321656-G-A p.Thr116Thr synonymous ALPI 2 82964 2.41068E-5 41482 0 6.25E-4
2-233321662-C-A p.Tyr118* stop_gained ALPI 1 83002 1.20479E-5 41501 0 6.25E-4
2-233321667-G-A p.Cys120Tyr missense ALPI 2 83000 2.40964E-5 41500 0 3.98298E-6
2-233321668-C-T p.Cys120Cys synonymous ALPI 4 83000 4.81928E-5 41500 0 3.32469E-5
2-233321671-G-T p.Gly121Gly synonymous ALPI 22 83010 2.65028E-4 41505 0 1.66201E-4
2-233321671-G-A p.Gly121Gly synonymous ALPI 4 83010 4.8187E-5 41505 0 NA
2-233321675-A-G p.Lys123Glu missense ALPI 2 83026 2.40888E-5 41513 0 NA
2-233321676-AG-A p.Ala124fs frameshift ALPI 1 83026 1.20444E-5 41513 0 8.31228E-6
2-233321679-C-G p.Ala124Gly missense ALPI 22 83020 2.64996E-4 41510 1 0.0025
2-233321679-C-T p.Ala124Val missense ALPI 1 83020 1.20453E-5 41510 0 7.96597E-6
2-233321695-C-T p.Ile129Ile synonymous ALPI 1 82974 1.2052E-5 41487 0 9.55657E-5
2-233321696-G-A p.Gly130Ser missense ALPI 2 82998 2.4097E-5 41499 0 0.00100908
2-233321697-G-C p.Gly130Ala missense ALPI 3 82986 3.61507E-5 41493 0 3.18552E-5
2-233321704-T-C p.Ser132Ser synonymous ALPI 1 82816 1.2075E-5 41408 0 NA
2-233321710-C-G p.Ala134Ala synonymous ALPI 1 82854 1.20694E-5 41427 0 NA
2-233321710-C-T p.Ala134Ala synonymous ALPI 1 82854 1.20694E-5 41427 0 5.03525E-4
2-233321711-G-C p.Ala135Pro missense ALPI 1 82762 1.20828E-5 41381 0 NA
2-233321711-G-A p.Ala135Thr missense ALPI 1 82762 1.20828E-5 41381 0 3.9932E-6
2-233321711-G-T p.Ala135Ser missense ALPI 1 82762 1.20828E-5 41381 0 1.67043E-5
2-233321714-C-T p.Arg136Cys missense ALPI 5 82882 6.03267E-5 41441 0 2.42293E-4
2-233321715-G-A p.Arg136His missense ALPI 2 82866 2.41354E-5 41433 0 3.19402E-5
2-233321724-A-C p.Gln139Pro missense ALPI 6 82928 7.23519E-5 41464 0 7.58071E-5
2-233321725-G-A p.Gln139Gln synonymous ALPI 1 82928 1.20587E-5 41464 0 NA
2-233321727-G-A p.Cys140Tyr missense ALPI 1 82932 1.20581E-5 41466 0 NA
2-233321731-C-G p.Asn141Lys missense ALPI 1 82936 1.20575E-5 41468 0 NA
2-233321733-C-G p.Thr142Arg missense ALPI 3 82926 3.61768E-5 41463 0 2.39536E-5
2-233321733-C-T p.Thr142Met missense ALPI 14 82926 1.68825E-4 41463 0 1.27453E-4
2-233321738-C-T p.Arg144Cys missense ALPI 1 82934 1.20578E-5 41467 0 3.18573E-5
2-233321739-G-A p.Arg144His missense ALPI 443 82906 0.0053434 41453 10 0.0116953
2-233321740-C-T p.Arg144Arg synonymous ALPI 12 82920 1.44718E-4 41460 0 7.53453E-5
2-233321746-T-A p.Asn146Lys missense ALPI 127 82958 0.0015309 41479 2 0.00251762
2-233321746-T-C p.Asn146Asn synonymous ALPI 1 82958 1.20543E-5 41479 0 NA
2-233321747-G-A p.Glu147Lys missense ALPI 1 82954 1.20549E-5 41477 0 NA
2-233321749-G-A p.Glu147Glu synonymous ALPI 1 82950 1.20555E-5 41475 0 NA
2-233321755-C-T p.Ile149Ile synonymous ALPI 1 82942 1.20566E-5 41471 0 2.39643E-5
2-233321758-C-T p.Ser150Ser synonymous ALPI 3 82932 3.61742E-5 41466 0 3.18492E-5
2-233321759-G-A p.Val151Met missense ALPI 2 82934 2.41156E-5 41467 0 3.99422E-6
2-233321769-G-A p.Arg154Gln missense ALPI 85 82940 0.00102484 41470 0 6.25E-4
2-233321779-A-G p.Gln157Gln synonymous ALPI 1 82942 1.20566E-5 41471 0 3.18492E-5
2-233321780-GC-AT p.Ala158Ile missense+splice_region ALPI 1 82938 1.20572E-5 41469 0 NA
2-233321788-G-C c.475+5G>C splice_region ALPI 1 82898 1.2063E-5 41449 0 NA
2-233321854-C-T c.476-6C>T splice_region ALPI 3 82694 3.62783E-5 41347 0 7.57588E-5
2-233321867-A-C p.Ser161Ser synonymous ALPI 2 82764 2.41651E-5 41382 0 NA
2-233321870-A-G p.Val162Val synonymous ALPI 1 82776 1.20808E-5 41388 0 3.98476E-6
2-233321871-G-A p.Gly163Arg missense ALPI 2 82788 2.41581E-5 41394 0 3.32635E-5
2-233321880-A-G p.Thr166Ala missense ALPI 1 82710 1.20904E-5 41355 0 NA
2-233321883-AC-A p.Thr168fs frameshift ALPI 1 82758 1.20834E-5 41379 0 NA
2-233321889-C-T p.Arg169Trp missense ALPI 1 82776 1.20808E-5 41388 0 1.27421E-4
2-233321890-G-A p.Arg169Gln missense ALPI 2 82786 2.41587E-5 41393 0 6.36943E-5
2-233321894-G-A p.Val170Val synonymous ALPI 1 82762 1.20828E-5 41381 0 3.98267E-6
2-233321895-C-T p.Gln171* stop_gained ALPI 2 82752 2.41686E-5 41376 0 NA
2-233321900-C-A p.His172Gln missense ALPI 1 82758 1.20834E-5 41379 0 3.58446E-5
2-233321900-C-T p.His172His synonymous ALPI 3 82758 3.62503E-5 41379 0 9.1253E-5
2-233321901-G-A p.Ala173Thr missense ALPI 3 82752 3.62529E-5 41376 0 3.18573E-5
2-233321905-C-A p.Ser174* stop_gained ALPI 1 82790 1.20788E-5 41395 0 NA
2-233321905-C-T p.Ser174Leu missense ALPI 3 82790 3.62363E-5 41395 0 3.18573E-5
2-233321906-G-A p.Ser174Ser synonymous ALPI 29 82780 3.50326E-4 41390 0 0.001875
2-233321915-CACCTA-C p.Thr178fs frameshift ALPI 2 82816 2.41499E-5 41408 0 NA
2-233321916-A-G p.Thr178Ala missense ALPI 17 82830 2.0524E-4 41415 0 0.00125
2-233321920-A-ACG p.Val183fs frameshift ALPI 2 82830 2.41458E-5 41415 0 1.19426E-5
2-233321921-C-G p.Tyr179* stop_gained ALPI 2 82812 2.41511E-5 41406 0 NA
2-233321922-G-A p.Ala180Thr missense ALPI 3 82800 3.62319E-5 41400 0 5.03525E-4
2-233321924-AC-A p.His181fs frameshift ALPI 1 82812 1.20755E-5 41406 0 3.18735E-5
2-233321925-C-CA p.His181fs frameshift ALPI 1 82826 1.20735E-5 41413 0 NA
2-233321938-G-A p.Arg185His missense ALPI 2 82764 2.41651E-5 41382 0 6.37349E-5
2-233321942-C-G p.Asn186Lys missense ALPI 4 82800 4.83092E-5 41400 0 7.96197E-6
2-233321954-T-C p.Asp190Asp synonymous ALPI 2 82786 2.41587E-5 41393 0 3.98134E-6
2-233321957-T-C p.Ala191Ala synonymous ALPI 1 82804 1.20767E-5 41402 0 NA
2-233321961-A-G p.Met193Val missense ALPI 1 82802 1.2077E-5 41401 0 NA
2-233321974-C-T p.Ala197Val missense ALPI 1 82816 1.2075E-5 41408 0 3.18593E-5
2-233321975-C-T p.Ala197Ala synonymous ALPI 1 82832 1.20726E-5 41416 0 8.31089E-6
2-233321976-C-T p.Arg198Cys missense ALPI 3 82822 3.62223E-5 41411 0 3.18634E-5
2-233321977-G-T p.Arg198Leu missense ALPI 5 82818 6.03733E-5 41409 0 9.16554E-5
2-233321977-G-A p.Arg198His missense ALPI 3 82818 3.6224E-5 41409 0 4.38352E-5
2-233321982-G-A p.Glu200Lys missense ALPI 81 82854 9.77623E-4 41427 0 0.00175715
2-233321991-C-T p.Gln203* stop_gained ALPI 1 82806 1.20764E-5 41403 0 NA
2-233321999-C-T p.Ile205Ile synonymous ALPI 3 82780 3.62406E-5 41390 0 3.37308E-5
2-233322000-G-A p.Ala206Thr missense ALPI 6 82754 7.2504E-5 41377 0 6.37267E-5
2-233322002-C-T p.Ala206Ala synonymous ALPI 1 82762 1.20828E-5 41381 0 1.69019E-5
2-233322004-C-T p.Thr207Ile missense ALPI 334 82756 0.00403596 41378 3 0.00777615
2-233322021-A-G p.Met213Val missense ALPI 1 82712 1.20901E-5 41356 0 NA
2-233322028-T-C p.Ile215Thr missense ALPI 1 82606 1.21057E-5 41303 0 5.03525E-4
2-233322033-G-C c.648+1G>C splice_donor ALPI 2 82462 2.42536E-5 41231 0 6.37389E-5
2-233322033-G-A c.648+1G>A splice_donor ALPI 1 82462 1.21268E-5 41231 0 4.18137E-6
2-233322036-C-T c.648+4C>T splice_region ALPI 4 82346 4.85755E-5 41173 0 9.56084E-5
2-233322269-C-T c.649-6C>T splice_region ALPI 2 83170 2.40471E-5 41585 0 3.18715E-5
2-233322272-C-T c.649-3C>T splice_region ALPI 1 83172 1.20233E-5 41586 0 7.89778E-5
2-233322283-T-C p.Leu219Leu synonymous ALPI 2 83220 2.40327E-5 41610 0 9.56389E-5
2-233322286-C-T p.Gly220Gly synonymous ALPI 135 83230 0.00162201 41615 0 0.00553877
2-233322291-G-C p.Gly222Ala missense ALPI 3 83246 3.60378E-5 41623 0 NA
2-233322293-C-T p.Arg223Cys missense ALPI 1 83254 1.20114E-5 41627 0 8.50658E-6
2-233322294-G-A p.Arg223His missense ALPI 2 83250 2.4024E-5 41625 0 2.00213E-5
2-233322298-G-A p.Lys224Lys synonymous ALPI 1 83270 1.20091E-5 41635 0 NA
2-233322299-T-C p.Tyr225His missense ALPI 1 83268 1.20094E-5 41634 0 3.18674E-5
2-233322300-A-C p.Tyr225Ser missense ALPI 3 83268 3.60282E-5 41634 0 5.03525E-4
2-233322305-T-A p.Phe227Ile missense ALPI 1 83280 1.20077E-5 41640 0 7.9776E-6
2-233322305-T-G p.Phe227Val missense ALPI 3 83280 3.60231E-5 41640 0 3.9888E-6
2-233322310-C-T p.Pro228Pro synonymous ALPI 1 83274 1.20085E-5 41637 0 8.34237E-6
2-233322310-C-A p.Pro228Pro synonymous ALPI 1 83274 1.20085E-5 41637 0 NA
2-233322311-A-T p.Met229Leu missense ALPI 1 83272 1.20088E-5 41636 0 NA
2-233322315-G-A p.Gly230Glu missense ALPI 1 83274 1.20085E-5 41637 0 NA
2-233322319-CC-AT p.ThrPro231ThrSer missense ALPI 2 83276 2.40165E-5 41638 0 NA
2-233322325-C-T p.Asp233Asp synonymous ALPI 1 83284 1.20071E-5 41642 0 1.65854E-5
2-233322370-C-T p.Asp248Asp synonymous ALPI 27 83236 3.24379E-4 41618 0 6.25E-4
2-233322371-G-A p.Gly249Arg missense ALPI 3 83238 3.60412E-5 41619 0 1.59384E-5
2-233322382-G-C p.Leu252Leu synonymous ALPI 2 83234 2.40286E-5 41617 0 3.98667E-6
2-233322386-C-T p.Gln254* stop_gained ALPI 1 83220 1.20163E-5 41610 0 1.65975E-5
2-233322417-G-A c.783+8G>A splice_region ALPI 372 83084 0.0044774 41542 7 0.0101989
2-233322501-G-A c.784-4G>A splice_region ALPI 1 82948 1.20557E-5 41474 0 7.9635E-6
2-233322509-C-T p.Ala263Val missense ALPI 1 82882 1.20653E-5 41441 0 1.59228E-5
2-233322526-C-T p.Arg269Cys missense ALPI 1 82908 1.20616E-5 41454 0 6.38244E-5
2-233322527-G-A p.Arg269His missense ALPI 1 82904 1.20621E-5 41452 0 3.19183E-5
2-233322527-G-T p.Arg269Leu missense ALPI 2 82904 2.41243E-5 41452 0 NA
2-233322545-C-T p.Ala275Val missense ALPI 1 82910 1.20613E-5 41455 0 2.47272E-5
2-233322546-G-A p.Ala275Ala synonymous ALPI 2 82926 2.41179E-5 41463 0 1.23638E-4
2-233322556-C-A p.Gln279Lys missense ALPI 1 82976 1.20517E-5 41488 0 7.95893E-6
2-233322557-A-C p.Gln279Pro missense ALPI 9 82972 1.0847E-4 41486 0 3.19264E-5
2-233322564-G-A p.Val281Val synonymous ALPI 3 82960 3.6162E-5 41480 0 1.64919E-5
2-233322567-C-A p.Thr282Thr synonymous ALPI 5 83004 6.02381E-5 41502 0 3.98023E-5
2-233322571-C-T p.Leu284Phe missense ALPI 2 83042 2.40842E-5 41521 0 8.24892E-6
2-233322584-AC-A c.856+8delC splice_region ALPI 1 83110 1.20322E-5 41555 0 3.98514E-6
2-233322585-C-A c.856+8C>A splice_region ALPI 1 83148 1.20267E-5 41574 0 3.19122E-5
2-233322701-C-T c.857-7C>T splice_region ALPI 95 83236 0.00114133 41618 0 0.00104118
2-233322701-C-G c.857-7C>G splice_region ALPI 1 83236 1.2014E-5 41618 0 NA
2-233322714-T-C p.Phe288Ser missense ALPI 1 83234 1.20143E-5 41617 0 NA
2-233322720-C-T p.Pro290Leu missense ALPI 6 83210 7.21067E-5 41605 0 0.00100705
2-233322721-C-T p.Pro290Pro synonymous ALPI 282 83222 0.00338853 41611 0 0.00701055
2-233322730-G-A p.Thr293Thr synonymous ALPI 2 83244 2.40258E-5 41622 0 8.24769E-6
2-233322736-T-C p.Tyr295Tyr synonymous ALPI 1 83246 1.20126E-5 41623 0 1.64929E-5
2-233322739-G-T p.Glu296Asp missense ALPI 1 83244 1.20129E-5 41622 0 NA
2-233322746-C-T p.Arg299* stop_gained ALPI 9 83248 1.08111E-4 41624 0 0.00151057
2-233322764-C-A p.Pro305Thr missense ALPI 1 83274 1.20085E-5 41637 0 NA
2-233322782-A-G p.Thr311Ala missense ALPI 1 83270 1.20091E-5 41635 0 3.19775E-5
2-233322787-G-A p.Glu312Glu synonymous ALPI 1 83264 1.201E-5 41632 0 3.97839E-6
2-233322788-G-A p.Ala313Thr missense ALPI 1 83252 1.20117E-5 41626 0 3.97877E-6
2-233322791-G-A p.Ala314Thr missense ALPI 1 83238 1.20137E-5 41619 0 3.97902E-6
2-233322796-G-A p.Leu315Leu synonymous ALPI 1 83216 1.20169E-5 41608 0 NA
2-233322797-C-T p.Arg316Cys missense ALPI 3 83220 3.6049E-5 41610 0 2.55346E-4
2-233322807-G-A p.Ser319Asn missense ALPI 2 83214 2.40344E-5 41607 0 NA
2-233322811-G-C p.Arg320Ser missense ALPI 1 83206 1.20184E-5 41603 0 8.25246E-6
2-233322818-C-T p.Arg323Cys missense ALPI 1 83212 1.20175E-5 41606 0 0.0020141
2-233322819-G-T p.Arg323Leu missense ALPI 2 83202 2.40379E-5 41601 0 3.98029E-6
2-233322838-G-A p.Val329Val synonymous ALPI 1 83158 1.20253E-5 41579 0 2.47868E-5
2-233322924-C-T c.992-3C>T splice_region ALPI 1 83074 1.20375E-5 41537 0 3.30633E-5
2-233322928-C-T p.Gly331Gly splice_region+synonymous ALPI 1 83068 1.20383E-5 41534 0 5.78579E-5
2-233322929-G-A p.Gly332Ser missense+splice_region ALPI 3 83076 3.61115E-5 41538 0 9.16006E-5
2-233322932-C-T p.Arg333Cys missense ALPI 2 83084 2.4072E-5 41542 0 3.18695E-5
2-233322937-C-T p.Ile334Ile synonymous ALPI 1 83084 1.2036E-5 41542 0 3.18654E-5
2-233322937-C-G p.Ile334Met missense ALPI 1 83084 1.2036E-5 41542 0 NA
2-233322937-C-A p.Ile334Ile synonymous ALPI 2 83084 2.4072E-5 41542 0 NA
2-233322938-G-A p.Asp335Asn missense ALPI 2 83080 2.40732E-5 41540 0 5.78063E-5
2-233322944-G-A p.Gly337Ser missense ALPI 1 83128 1.20296E-5 41564 0 5.03525E-4
2-233322950-C-G p.His339Asp missense ALPI 2 83136 2.4057E-5 41568 0 2.78529E-5
2-233322958-T-C p.Gly341Gly synonymous ALPI 7923 83034 0.0954187 41517 398 0.156875
2-233322971-G-A p.Ala346Thr missense ALPI 1 83134 1.20288E-5 41567 0 4.12725E-5
2-233322985-G-A p.Ala350Ala synonymous ALPI 7 83124 8.42115E-5 41562 0 9.94589E-5
2-233322985-G-C p.Ala350Ala synonymous ALPI 1 83124 1.20302E-5 41562 0 NA
2-233322988-C-T p.Val351Val synonymous ALPI 2 83120 2.40616E-5 41560 0 NA
2-233322990-T-C p.Met352Thr missense ALPI 1 83120 1.20308E-5 41560 0 NA
2-233322991-G-A p.Met352Ile missense ALPI 2 83112 2.40639E-5 41556 0 1.98924E-5
2-233322995-G-A p.Asp354Asn missense ALPI 1 83104 1.20331E-5 41552 0 9.90867E-5
2-233322997-C-T p.Asp354Asp synonymous ALPI 1 83110 1.20322E-5 41555 0 8.25777E-6
2-233323000-C-T p.Asp355Asp synonymous ALPI 1745 83078 0.0210044 41539 93 0.0418526
2-233323014-C-T p.Ala360Val missense ALPI 92 83110 0.00110697 41555 0 7.63942E-4
2-233323015-G-A p.Ala360Ala synonymous ALPI 5 83106 6.01641E-5 41553 0 5.04032E-4
2-233323019-C-T p.Gln362* stop_gained ALPI 1 83118 1.20311E-5 41559 0 3.97905E-6
2-233323020-A-G p.Gln362Arg missense ALPI 2 83118 2.40622E-5 41559 0 8.26761E-6
2-233323024-C-T p.Leu363Leu synonymous ALPI 1 83114 1.20317E-5 41557 0 8.26925E-6
2-233323030-C-T p.Ser365Ser synonymous ALPI 68 83078 8.18508E-4 41539 0 0.0015121
2-233323031-G-A p.Glu366Lys missense ALPI 4 83070 4.81522E-5 41535 0 0.00125
2-233323033-G-A p.Glu366Glu synonymous ALPI 1 83054 1.20404E-5 41527 0 NA
2-233323034-G-A p.Glu367Lys missense ALPI 4 83054 4.81614E-5 41527 0 3.97953E-5
2-233323041-C-T p.Thr369Met missense ALPI 1 82984 1.20505E-5 41492 0 3.18512E-5
2-233323048-C-G p.Thr371Thr synonymous ALPI 5 82912 6.03049E-5 41456 0 1.27395E-4
2-233323051-C-T p.Leu372Leu synonymous ALPI 1 82876 1.20662E-5 41438 0 3.18471E-5
2-233323052-G-A p.Val373Ile missense ALPI 8 82848 9.65624E-5 41424 0 0.001875
2-233323057-C-T p.Thr374Thr synonymous ALPI 20 82792 2.41569E-4 41396 0 5.04032E-4
2-233323057-C-A p.Thr374Thr synonymous ALPI 4 82794 4.83127E-5 41397 0 3.98184E-6
2-233323058-G-A p.Ala375Thr missense ALPI 1 82742 1.20858E-5 41371 0 1.19476E-5
2-233323065-A-G p.His377Arg missense ALPI 1 82666 1.20969E-5 41333 0 NA
2-233323066-C-G p.His377Gln missense ALPI 1 82666 1.20969E-5 41333 0 3.98273E-6
2-233323067-T-G p.Ser378Ala missense ALPI 1 82650 1.20992E-5 41325 0 1.59319E-5
2-233323096-C-T p.Thr387Thr synonymous ALPI 3 81926 3.66184E-5 40963 0 NA
2-233323100-C-T p.Arg389* stop_gained ALPI 1 81644 1.22483E-5 40822 0 3.18431E-5
2-233323101-G-A p.Arg389Gln missense ALPI 2 81594 2.45116E-5 40797 0 6.36862E-5
2-233323117-C-A p.Phe394Leu missense+splice_region ALPI 1 80972 1.23499E-5 40486 0 NA
2-233323120-T-C c.1183+2T>C splice_donor ALPI 3 80886 3.70892E-5 40443 0 NA
2-233323342-G-A p.Gly395Glu missense+splice_region ALPI 3 82606 3.6317E-5 41303 0 6.03625E-5
2-233323343-G-A p.Gly395Gly splice_region+synonymous ALPI 2 82618 2.42078E-5 41309 0 6.37186E-5
2-233323344-T-C p.Leu396Leu splice_region+synonymous ALPI 1 82614 1.21045E-5 41307 0 8.60585E-6
2-233323379-C-T p.Tyr407Tyr synonymous ALPI 1 82700 1.20919E-5 41350 0 5.1856E-5
2-233323394-C-T p.Tyr412Tyr synonymous ALPI 1 82686 1.20939E-5 41343 0 8.36974E-6
2-233323395-G-A p.Gly413Ser missense ALPI 1 82678 1.20951E-5 41339 0 NA
2-233323396-G-A p.Gly413Asp missense ALPI 5 82660 6.04888E-5 41330 0 3.18532E-5
2-233323405-C-T p.Pro416Leu missense ALPI 6 82612 7.26287E-5 41306 1 5.03525E-4
2-233323406-G-A p.Pro416Pro synonymous ALPI 2 82602 2.42125E-5 41301 0 6.37146E-5
2-233323427-C-T p.Gly423Gly synonymous ALPI 7 82502 8.48464E-5 41251 0 5.03525E-4
2-233323428-G-A p.Val424Met missense ALPI 2 82490 2.42454E-5 41245 0 2.502E-5
2-233323436-A-G p.Pro426Pro synonymous ALPI 9 82394 1.09231E-4 41197 0 1.59357E-4
2-233323452-G-A p.Glu432Lys missense ALPI 1 82104 1.21797E-5 41052 0 1.33683E-4
2-233323465-G-A c.1300+7G>A splice_region ALPI 1 81786 1.2227E-5 40893 0 3.99348E-6
2-233323570-G-C p.Gly434Ala missense+splice_region ALPI 1 78056 1.28113E-5 39028 0 NA
2-233323573-G-A p.Ser435Asn missense ALPI 2 77874 2.56825E-5 38937 0 0.00100908
2-233323575-C-G p.Pro436Ala missense ALPI 5 77954 6.41404E-5 38977 0 1.59449E-4
2-233323578-G-C p.Asp437His missense ALPI 1 77994 1.28215E-5 38997 0 9.82048E-6
2-233323578-G-T p.Asp437Tyr missense ALPI 1 77994 1.28215E-5 38997 0 4.14281E-6
2-233323579-A-G p.Asp437Gly missense ALPI 2 77992 2.56437E-5 38996 0 NA
2-233323584-C-T p.Gln439* stop_gained ALPI 21 77926 2.69486E-4 38963 0 1.90663E-4
2-233323586-GC-AT p.GlnGln439* stop_gained ALPI 1 77866 1.28426E-5 38933 0 NA
2-233323599-GTG-CTA p.Val444Leu missense ALPI 10 77428 1.29152E-4 38714 0 NA
2-233323599-G-T p.Val444Leu missense ALPI 1 77428 1.29152E-5 38714 0 NA
2-233323601-G-A p.Val444Val synonymous ALPI 28 77394 3.61785E-4 38697 0 0.00405269
2-233323602-C-T p.Pro445Ser missense ALPI 6 77388 7.75314E-5 38694 0 4.21799E-5
2-233323604-C-T p.Pro445Pro synonymous ALPI 3 77558 3.86807E-5 38779 0 6.37674E-5
2-233323609-C-T p.Ser447Leu missense ALPI 1 77428 1.29152E-5 38714 0 0.00125
2-233323616-G-C p.Glu449Asp missense ALPI 25 77432 3.22864E-4 38716 0 4.44138E-4
2-233323616-G-T p.Glu449Asp missense ALPI 2 77432 2.58291E-5 38716 0 2.22069E-5
2-233323623-G-C p.Gly452Arg missense ALPI 2 77388 2.58438E-5 38694 0 NA
2-233323630-A-C p.Glu454Ala missense ALPI 1 77044 1.29796E-5 38522 0 NA
2-233323646-T-TGC p.Gly462fs frameshift ALPI 3 76308 3.93144E-5 38154 0 1.42389E-5
2-233323658-G-A p.Pro463Pro synonymous ALPI 4 75272 5.31406E-5 37636 0 4.5179E-5
2-233323659-C-T p.Gln464* stop_gained ALPI 2 75214 2.65908E-5 37607 0 6.37918E-5
2-233323670-G-C p.Leu467Leu synonymous ALPI 1 74506 1.34217E-5 37253 0 2.33525E-5
2-233323673-G-A p.Val468Val synonymous ALPI 1 74214 1.34745E-5 37107 0 NA
2-233323685-G-A p.Gln472Gln synonymous ALPI 1 73756 1.35582E-5 36878 0 NA
2-233323686-G-A p.Glu473Lys missense ALPI 1 73630 1.35814E-5 36815 0 NA
2-233323688-G-A p.Glu473Glu synonymous ALPI 7 73366 9.5412E-5 36683 0 0.00341243
2-233323702-C-G p.Ala478Gly missense ALPI 1 71386 1.40083E-5 35693 0 5.29886E-6
2-233323704-C-T p.His479Tyr missense ALPI 2 71154 2.8108E-5 35577 0 2.87323E-5
2-233323742-G-A p.Thr491Thr synonymous ALPI 1 62830 1.5916E-5 31415 0 NA
2-233323742-G-C p.Thr491Thr synonymous ALPI 1 62830 1.5916E-5 31415 0 NA
2-233323748-C-A p.Cys493* stop_gained ALPI 1 60914 1.64166E-5 30457 0 1.04428E-4
2-233323753-T-C p.Leu495Pro missense ALPI 1 60168 1.66201E-5 30084 0 5.3984E-5
2-233323757-G-A p.Ala496Ala synonymous ALPI 2 58496 3.41904E-5 29248 0 3.19448E-4
2-233323757-G-GC p.Pro498fs frameshift ALPI 1 58496 1.70952E-5 29248 0 6.80986E-6
2-233323763-C-G p.Pro498Pro synonymous ALPI 2 58566 3.41495E-5 29283 0 NA
2-233323766-C-A p.Ala499Ala synonymous ALPI 1 58150 1.71969E-5 29075 0 NA
2-233323767-T-C p.Cys500Arg missense ALPI 1 57984 1.72461E-5 28992 0 1.35522E-5
2-233323768-G-A p.Cys500Tyr missense ALPI 3 57648 5.204E-5 28824 0 NA
2-233323775-C-A p.Thr502Thr synonymous ALPI 1 56458 1.77123E-5 28229 0 NA
2-233323781-C-T p.Ala504Ala synonymous ALPI 1 54560 1.83284E-5 27280 0 6.51042E-5
2-233323784-G-C p.Ala505Ala synonymous ALPI 3 53388 5.61924E-5 26694 0 6.71862E-5
2-233323797-G-T p.Ala510Ser missense ALPI 1 51438 1.94409E-5 25719 0 7.35078E-5
2-233323810-T-G p.Leu514Arg missense ALPI 1 49908 2.00369E-5 24954 0 1.44396E-5
2-233323811-G-A p.Leu514Leu synonymous ALPI 1 49698 2.01215E-5 24849 0 3.19346E-5
2-233323820-G-C p.Gly517Gly synonymous ALPI 1 48562 2.05922E-5 24281 0 NA
2-233323826-GCT-G p.Leu520fs frameshift ALPI 4 47874 8.35527E-5 23937 0 NA
2-233323831-T-C p.Leu521Pro missense ALPI 1 47592 2.10119E-5 23796 0 NA
2-233323832-G-A p.Leu521Leu synonymous ALPI 5 47432 1.05414E-4 23716 0 8.54555E-5
2-233323845-G-T p.Ala526Ser missense ALPI 2 46052 4.34292E-5 23026 0 6.38366E-5
2-233323852-C-T p.Pro528Leu missense ALPI 1 45666 2.18981E-5 22833 0 NA
2-233323853-C-T p.Pro528Pro synonymous ALPI 1 45636 2.19125E-5 22818 0 7.61267E-6