Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-233243249-C-T c.-264C>T 5_prime_UTR_premature_start_codon_gain ALPP 1 43820 2.28206E-5 21910 0 6.38244E-5
2-233243260-C-T c.-253C>T 5_prime_UTR_premature_start_codon_gain ALPP 2 51304 3.89833E-5 25652 0 6.37918E-5
2-233243282-C-T c.-231C>T 5_prime_UTR_premature_start_codon_gain ALPP 2 60664 3.29685E-5 30332 0 NA
2-233243316-C-T c.-197C>T 5_prime_UTR_premature_start_codon_gain ALPP 2 71686 2.78995E-5 35843 0 3.18837E-5
2-233243355-G-C c.-158G>C 5_prime_UTR_premature_start_codon_gain ALPP 1 77984 1.28231E-5 38992 0 NA
2-233243357-G-A c.-156G>A 5_prime_UTR_premature_start_codon_gain ALPP 2 78124 2.56003E-5 39062 0 NA
2-233243393-G-T c.-120G>T 5_prime_UTR_premature_start_codon_gain ALPP 2 79616 2.51206E-5 39808 0 NA
2-233243398-C-T c.-115C>T 5_prime_UTR_premature_start_codon_gain ALPP 5 79820 6.26409E-5 39910 0 3.18674E-5
2-233243408-A-T c.-105A>T 5_prime_UTR_premature_start_codon_gain ALPP 1 80342 1.24468E-5 40171 0 NA
2-233243423-C-G c.-90C>G 5_prime_UTR_premature_start_codon_gain ALPP 1 81046 1.23387E-5 40523 0 NA
2-233243439-C-T c.-74C>T 5_prime_UTR_premature_start_codon_gain ALPP 9 81614 1.10275E-4 40807 0 NA
2-233243487-C-T c.-26C>T 5_prime_UTR_premature_start_codon_gain ALPP 1 82750 1.20846E-5 41375 0 1.61657E-5
2-233243522-C-T p.Pro4Ser missense ALPP 2 82912 2.4122E-5 41456 0 1.11565E-4
2-233243524-C-T p.Pro4Pro synonymous ALPP 1 82948 1.20557E-5 41474 0 NA
2-233243525-T-G p.Cys5Gly missense ALPP 1 82964 1.20534E-5 41482 0 NA
2-233243528-ATGC-A p.Leu13del conservative_inframe_deletion ALPP 87 75882 0.00114652 37941 0 0.0474805
2-233243528-A-ATGC p.Leu13dup conservative_inframe_insertion ALPP 26 82986 3.13306E-4 41493 0 6.76241E-4
2-233243532-T-C p.Leu7Pro missense ALPP 1 82992 1.20494E-5 41496 0 NA
2-233243539-G-C p.Leu9Leu synonymous ALPP 1 83026 1.20444E-5 41513 0 NA
2-233243542-G-C p.Leu10Leu synonymous ALPP 4 83030 4.81754E-5 41515 0 3.18573E-5
2-233243545-G-C p.Leu11Leu synonymous ALPP 3 83038 3.6128E-5 41519 0 3.58406E-5
2-233243548-G-GCTT p.Leu13dup disruptive_inframe_insertion ALPP 1 83042 1.20421E-5 41521 0 NA
2-233243550-T-C p.Leu13Pro missense ALPP 4 83036 4.81719E-5 41518 0 2.47545E-5
2-233243552-G-A p.Gly14Ser missense ALPP 12 83056 1.44481E-4 41528 0 1.03511E-4
2-233243553-G-C p.Gly14Ala missense ALPP 1 83058 1.20398E-5 41529 0 3.98089E-6
2-233243554-C-T p.Gly14Gly synonymous ALPP 3 83032 3.61306E-5 41516 0 NA
2-233243568-T-C p.Leu19Pro missense ALPP 5 83110 6.01612E-5 41555 0 7.56159E-5
2-233243586-C-T p.Pro25Leu missense+splice_region ALPP 6032 82972 0.0726992 41486 252 0.085
2-233243589-G-A c.76+1G>A splice_donor ALPP 1 83186 1.20213E-5 41593 0 NA
2-233243677-C-A c.77-4C>A splice_region ALPP 2 83152 2.40523E-5 41576 0 5.76929E-5
2-233243678-C-G c.77-3C>G splice_region ALPP 1 83146 1.2027E-5 41573 0 NA
2-233243682-TGAG-T p.Glu29del conservative_inframe_deletion ALPP 1 83150 1.20265E-5 41575 0 NA
2-233243696-C-T p.Pro31Leu missense ALPP 21 83136 2.52598E-4 41568 0 5.03525E-4
2-233243697-G-A p.Pro31Pro synonymous ALPP 2 83136 2.4057E-5 41568 0 4.1212E-5
2-233243699-A-G p.Asp32Gly missense ALPP 1 83126 1.20299E-5 41563 0 NA
2-233243711-G-A p.Arg36His missense ALPP 6 83096 7.22056E-5 41548 0 7.95608E-6
2-233243712-C-T p.Arg36Arg synonymous ALPP 526 83074 0.0063317 41537 11 0.0135462
2-233243713-G-C p.Glu37Gln missense ALPP 673 82444 0.00816312 41222 10 0.0159634
2-233243713-G-A p.Glu37Lys missense ALPP 29 83092 3.49011E-4 41546 0 0.00251572
2-233243722-G-A p.Glu40Lys missense ALPP 1 83104 1.20331E-5 41552 0 NA
2-233243732-G-A p.Gly43Asp missense ALPP 1 83132 1.20291E-5 41566 0 8.24321E-6
2-233243736-C-T p.Ala44Ala synonymous ALPP 23 83128 2.76682E-4 41564 0 2.8688E-4
2-233243737-G-A p.Ala45Thr missense ALPP 1 83120 1.20308E-5 41560 0 5.03525E-4
2-233243752-C-G p.Pro50Ala missense ALPP 2 83146 2.40541E-5 41573 0 NA
2-233243755-G-C p.Ala51Pro missense ALPP 1 83140 1.20279E-5 41570 0 3.97804E-6
2-233243758-C-T p.Gln52* stop_gained ALPP 1 83152 1.20262E-5 41576 0 NA
2-233243766-C-T p.Ala54Ala synonymous ALPP 1 83194 1.20201E-5 41597 0 5.03525E-4
2-233243767-G-A p.Ala55Thr missense ALPP 19 83198 2.28371E-4 41599 0 1.07404E-4
2-233243768-C-T p.Ala55Val missense ALPP 3 83210 3.60534E-5 41605 0 NA
2-233243776-C-T p.Leu58Phe missense ALPP 1 83226 1.20155E-5 41613 0 NA
2-233243791-G-T p.Gly63Cys missense ALPP 1 83200 1.20192E-5 41600 0 8.24158E-6
2-233243793-C-T p.Gly63Gly synonymous ALPP 1177 81366 0.0144655 40683 23 0.0382206
2-233243793-C-G p.Gly63Gly synonymous ALPP 184 83140 0.00221313 41570 0 0.00259909
2-233243794-G-A p.Asp64Asn missense ALPP 2 83210 2.40356E-5 41605 0 4.94486E-5
2-233243796-T-C p.Asp64Asp splice_region+synonymous ALPP 1169 81366 0.0143672 40683 23 0.038125
2-233243903-C-T c.194-7C>T splice_region ALPP 1 83058 1.20398E-5 41529 0 NA
2-233243907-C-T c.194-3C>T splice_region ALPP 363 82986 0.00437423 41493 3 0.004375
2-233243917-G-A p.Gly67Gly synonymous ALPP 1 82830 1.20729E-5 41415 0 NA
2-233243923-T-C p.Ser69Ser synonymous ALPP 2 82726 2.41762E-5 41363 0 3.97833E-6
2-233243925-C-T p.Thr70Met missense ALPP 5 82654 6.04931E-5 41327 0 3.18837E-5
2-233243925-C-A p.Thr70Lys missense ALPP 1 82654 1.20986E-5 41327 0 NA
2-233243926-G-A p.Thr70Thr synonymous ALPP 1 82658 1.2098E-5 41329 0 3.18817E-5
2-233243929-G-A p.Val71Val synonymous ALPP 21 82676 2.54004E-4 41338 0 1.2751E-4
2-233243936-G-A p.Ala74Thr missense ALPP 1 82624 1.2103E-5 41312 0 NA
2-233243945-C-A p.Leu77Ile missense ALPP 88 82682 0.00106432 41341 0 0.00100705
2-233243953-G-A p.Gly79Gly synonymous ALPP 1 82606 1.21057E-5 41303 0 9.55178E-5
2-233243954-C-T p.Gln80* stop_gained ALPP 4 82630 4.84086E-5 41315 0 NA
2-233243956-G-A p.Gln80Gln synonymous ALPP 1 82674 1.20957E-5 41337 0 1.19394E-5
2-233243973-G-A p.Gly86Glu missense ALPP 2 82756 2.41674E-5 41378 0 1.79106E-4
2-233243981-A-T p.Ile89Leu missense ALPP 26731 82322 0.324713 41161 4489 0.376636
2-233243983-A-G p.Ile89Met missense ALPP 7 82858 8.44819E-5 41429 0 3.18459E-5
2-233243987-CT-C p.Leu91fs frameshift ALPP 1 82880 1.20656E-5 41440 0 NA
2-233243988-T-A p.Leu91Gln missense ALPP 1 82882 1.20653E-5 41441 0 NA
2-233243998-C-G p.Asp94Glu missense ALPP 1 82928 1.20587E-5 41464 0 8.26214E-6
2-233243999-C-T p.Arg95Cys missense ALPP 2 82924 2.41185E-5 41462 0 5.03525E-4
2-233244000-G-A p.Arg95His missense ALPP 4 82936 4.823E-5 41468 0 8.26583E-6
2-233244025-G-C p.Lys103Asn missense+splice_region ALPP 1 83026 1.20444E-5 41513 0 3.98819E-6
2-233244030-G-T c.309+5G>T splice_region ALPP 1 83034 1.20433E-5 41517 0 1.99526E-5
2-233244215-G-C c.310-8G>C splice_region ALPP 11 83018 1.32501E-4 41509 0 7.00584E-4
2-233244217-C-T c.310-6C>T splice_region ALPP 9 83042 1.08379E-4 41521 0 9.56206E-5
2-233244223-A-C p.Thr104Pro missense+splice_region ALPP 62 83070 7.46358E-4 41535 0 0.00100806
2-233244226-T-C p.Tyr105His missense ALPP 1 83076 1.20372E-5 41538 0 3.98654E-6
2-233244230-A-G p.Asn106Ser missense ALPP 8 83034 9.63461E-5 41517 0 6.25E-4
2-233244235-G-A p.Asp108Asn missense ALPP 2 83100 2.40674E-5 41550 0 8.28597E-6
2-233244240-A-G p.Lys109Lys synonymous ALPP 5 83030 6.02192E-5 41515 0 6.25E-4
2-233244250-G-C p.Asp113His missense ALPP 1 83110 1.20322E-5 41555 0 3.9834E-6
2-233244259-G-C p.Ala116Pro missense ALPP 1 83116 1.20314E-5 41558 0 8.27732E-6
2-233244269-C-T p.Thr119Met missense ALPP 1 83096 1.20343E-5 41548 0 3.18613E-5
2-233244270-G-A p.Thr119Thr synonymous ALPP 3 83092 3.61046E-5 41546 0 1.99073E-5
2-233244276-C-T p.Tyr121Tyr synonymous ALPP 3 83106 3.60985E-5 41553 0 1.9118E-4
2-233244277-C-G p.Leu122Val missense ALPP 7 83112 8.42237E-5 41556 0 6.62263E-5
2-233244278-T-C p.Leu122Pro missense ALPP 1 83114 1.20317E-5 41557 0 NA
2-233244282-C-T p.Cys123Cys synonymous ALPP 4 83082 4.81452E-5 41541 0 5.79768E-5
2-233244289-A-C p.Lys126Gln missense ALPP 6 83086 7.22143E-5 41543 0 4.77642E-5
2-233244325-G-A p.Ala138Thr missense ALPP 2 82904 2.41243E-5 41452 0 6.37389E-5
2-233244326-C-T p.Ala138Val missense ALPP 10 82922 1.20595E-4 41461 0 9.18212E-5
2-233244326-C-G p.Ala138Gly missense ALPP 1 82928 1.20587E-5 41464 0 5.00843E-5
2-233244328-C-T p.Arg139Cys missense ALPP 6 82948 7.23345E-5 41474 0 1.59276E-4
2-233244329-G-A p.Arg139His missense ALPP 1 82934 1.20578E-5 41467 0 3.99202E-5
2-233244341-G-A p.Cys143Tyr missense ALPP 2 82932 2.41161E-5 41466 0 8.35673E-6
2-233244348-G-A p.Thr145Thr synonymous ALPP 7 82936 8.44024E-5 41468 0 1.27445E-4
2-233244350-C-T p.Thr146Ile missense ALPP 2 82922 2.41191E-5 41461 0 8.37058E-6
2-233244352-C-T p.Arg147Cys missense ALPP 1 82906 1.20619E-5 41453 0 1.19831E-5
2-233244353-G-A p.Arg147His missense ALPP 1 82902 1.20624E-5 41451 0 8.37493E-6
2-233244354-C-T p.Arg147Arg synonymous ALPP 13 82904 1.56808E-4 41452 0 1.91241E-4
2-233244355-G-A p.Gly148Ser missense ALPP 1 82936 1.20575E-5 41468 0 2.51366E-5
2-233244355-G-C p.Gly148Arg missense ALPP 4 82934 4.82311E-5 41467 0 5.03525E-4
2-233244360-C-T p.Asn149Asn synonymous ALPP 1 82966 1.20531E-5 41483 0 6.70196E-5
2-233244361-G-A p.Glu150Lys missense ALPP 2 82962 2.41074E-5 41481 0 1.99752E-5
2-233244366-C-T p.Val151Val synonymous ALPP 3 82980 3.61533E-5 41490 0 4.39322E-5
2-233244368-T-A p.Ile152Asn missense ALPP 8 82978 9.64111E-5 41489 0 6.25E-4
2-233244369-C-G p.Ile152Met missense ALPP 1 82990 1.20496E-5 41495 0 3.18552E-5
2-233244372-C-T p.Ser153Ser synonymous ALPP 8 82988 9.63995E-5 41494 0 5.03086E-5
2-233244383-G-A p.Arg157Gln missense ALPP 1 82992 1.20494E-5 41496 0 2.01248E-4
2-233244389-A-C p.Lys159Thr missense ALPP 1 83038 1.20427E-5 41519 0 NA
2-233244396-A-C p.Ala161Ala splice_region+synonymous ALPP 1 83058 1.20398E-5 41529 0 NA
2-233244401-A-G c.484+4A>G splice_region ALPP 1 83056 1.20401E-5 41528 0 NA
2-233244405-G-A c.484+8G>A splice_region ALPP 2 83060 2.4079E-5 41530 0 1.67605E-5
2-233244469-C-A c.485-5C>A splice_region ALPP 1 82694 1.20928E-5 41347 0 NA
2-233244493-A-G n.659A>G splice_region ALPP 1 82320 1.21477E-5 41160 0 6.37633E-5
2-233244495-C-A p.Thr169Asn missense ALPP 1 82304 1.21501E-5 41152 0 7.96864E-6
2-233244503-C-T p.Arg172* stop_gained ALPP 5 82210 6.08199E-5 41105 0 6.37349E-5
2-233244504-G-A p.Arg172Gln missense ALPP 4 82206 4.86583E-5 41103 0 1.59385E-5
2-233244505-A-G p.Arg172Arg synonymous ALPP 11 82180 1.33853E-4 41090 0 6.25E-4
2-233244514-CGCCTCGCCA-C p.Ser177_Ala179del conservative_inframe_deletion ALPP 4 82100 4.87211E-5 41050 0 9.56145E-5
2-233244514-C-T p.His175His synonymous ALPP 6 82088 7.30923E-5 41044 0 6.97176E-4
2-233244515-G-T p.Ala176Ser missense ALPP 2 82072 2.43688E-5 41036 0 1.66005E-5
2-233244515-G-C p.Ala176Pro missense ALPP 2 82072 2.43688E-5 41036 0 3.98565E-6
2-233244515-G-A p.Ala176Thr missense ALPP 1 82072 1.21844E-5 41036 0 1.99283E-5
2-233244516-C-G p.Ala176Gly missense ALPP 2 82114 2.43564E-5 41057 0 1.65981E-5
2-233244517-C-A p.Ala176Ala synonymous ALPP 529 82100 0.00644336 41050 8 0.00765056
2-233244519-C-T p.Ser177Leu missense ALPP 1 82104 1.21797E-5 41052 0 2.48905E-5
2-233244520-G-A p.Ser177Ser synonymous ALPP 3 82084 3.65479E-5 41042 0 9.56145E-5
2-233244526-C-T p.Ala179Ala synonymous ALPP 9 82158 1.09545E-4 41079 0 2.32192E-4
2-233244530-A-G p.Thr181Ala missense ALPP 5 82134 6.08761E-5 41067 0 0.00100806
2-233244535-C-T p.Tyr182Tyr synonymous ALPP 1 82162 1.21711E-5 41081 0 2.39032E-5
2-233244535-C-G p.Tyr182* stop_gained ALPP 3 82162 3.65132E-5 41081 0 7.96775E-6
2-233244536-G-A p.Ala183Thr missense ALPP 3 82118 3.65328E-5 41059 0 0.001875
2-233244537-C-T p.Ala183Val missense ALPP 22 82130 2.67868E-4 41065 0 0.00375
2-233244539-C-A p.His184Asn missense ALPP 4 82172 4.86784E-5 41086 0 0.00100806
2-233244543-C-G p.Thr185Arg missense ALPP 1 82246 1.21586E-5 41123 0 3.98441E-6
2-233244544-G-A p.Thr185Thr synonymous ALPP 15 82250 1.82371E-4 41125 0 0.00125
2-233244549-A-T p.Asn187Ile missense ALPP 1 82316 1.21483E-5 41158 0 3.98413E-6
2-233244551-C-A p.Arg188Ser missense ALPP 4 82344 4.85767E-5 41172 0 1.59327E-4
2-233244551-C-T p.Arg188Cys missense ALPP 3 82346 3.64316E-5 41173 0 1.11572E-4
2-233244552-G-A p.Arg188His missense ALPP 2 82334 2.42913E-5 41167 0 1.91192E-4
2-233244559-G-C p.Trp190Cys missense ALPP 1 82428 1.21318E-5 41214 0 NA
2-233244564-C-G p.Ser192Trp missense ALPP 122 82400 0.00148058 41200 0 0.00133203
2-233244565-G-A p.Ser192Ser synonymous ALPP 2 82430 2.4263E-5 41215 0 1.27462E-4
2-233244568-C-T p.Asp193Asp synonymous ALPP 20 82404 2.42707E-4 41202 0 0.00125
2-233244569-G-A p.Ala194Thr missense ALPP 1 82400 1.21359E-5 41200 0 NA
2-233244571-C-T p.Ala194Ala synonymous ALPP 2 82438 2.42607E-5 41219 0 2.79189E-5
2-233244572-G-A p.Asp195Asn missense ALPP 6 82488 7.27379E-5 41244 0 1.27462E-4
2-233244574-C-T p.Asp195Asp synonymous ALPP 34 82500 4.12121E-4 41250 0 1.75513E-4
2-233244574-C-A p.Asp195Glu missense ALPP 1 82506 1.21203E-5 41253 0 3.18654E-5
2-233244574-C-G p.Asp195Glu missense ALPP 1 82506 1.21203E-5 41253 0 8.2894E-6
2-233244575-G-A p.Val196Met missense ALPP 23 82526 2.787E-4 41263 0 1.74092E-4
2-233244576-T-A p.Val196Glu missense ALPP 1 82540 1.21153E-5 41270 0 NA
2-233244585-C-T p.Ser199Phe missense ALPP 2 82566 2.4223E-5 41283 0 8.29421E-6
2-233244586-C-G p.Ser199Ser synonymous ALPP 76450 81522 0.937784 40761 35917 0.983316
2-233244586-C-T p.Ser199Ser synonymous ALPP 1 82544 1.21148E-5 41272 0 3.18898E-5
2-233244586-C-A p.Ser199Ser synonymous ALPP 3 82544 3.63443E-5 41272 0 6.37796E-5
2-233244590-C-T p.Arg201Cys missense ALPP 3 82610 3.63152E-5 41305 0 0.00101112
2-233244591-G-A p.Arg201His missense ALPP 16 82626 1.93644E-4 41313 0 0.00125
2-233244593-C-T p.Gln202* stop_gained ALPP 1 82672 1.2096E-5 41336 0 NA
2-233244596-G-A p.Glu203Lys missense ALPP 1 82694 1.20928E-5 41347 0 NA
2-233244598-G-T p.Glu203Asp missense ALPP 1 82692 1.20931E-5 41346 0 NA
2-233244599-G-A p.Gly204Arg missense ALPP 4 82682 4.83781E-5 41341 0 7.98276E-5
2-233244599-G-T p.Gly204Trp missense ALPP 1 82682 1.20945E-5 41341 0 NA
2-233244605-C-T p.Gln206* stop_gained ALPP 1 82680 1.20948E-5 41340 0 6.25E-4
2-233244608-G-A p.Asp207Asn missense ALPP 1 82710 1.20904E-5 41355 0 3.99348E-6
2-233244610-C-T p.Asp207Asp synonymous ALPP 1 82698 1.20922E-5 41349 0 8.47228E-6
2-233244612-T-C p.Ile208Thr missense ALPP 2 82706 2.4182E-5 41353 0 3.38834E-5
2-233244614-G-T p.Ala209Ser missense ALPP 17 82694 2.05577E-4 41347 0 1.68174E-4
2-233244616-T-C p.Ala209Ala synonymous ALPP 1223 82420 0.0148386 41210 76 0.0323362
2-233244618-C-T p.Thr210Met missense ALPP 6 82716 7.25374E-5 41358 0 5.96069E-5
2-233244618-C-G p.Thr210Arg missense ALPP 1 82716 1.20896E-5 41358 0 NA
2-233244619-G-A p.Thr210Thr synonymous ALPP 9 82688 1.08843E-4 41344 0 9.56328E-5
2-233244619-G-C p.Thr210Thr synonymous ALPP 1 82690 1.20934E-5 41345 0 NA
2-233244631-C-A p.Ser214Ser synonymous ALPP 1 82686 1.20939E-5 41343 0 NA
2-233244636-T-C p.Met216Thr missense ALPP 1 82668 1.20966E-5 41334 0 3.19101E-5
2-233244640-C-T p.Asp217Asp synonymous ALPP 1 82630 1.21021E-5 41315 0 4.10458E-6
2-233244641-A-T p.Ile218Phe missense ALPP 2 82618 2.42078E-5 41309 0 2.61575E-5
2-233244643-TGACGTGC-T c.657+1_657+7delGTGCGAC splice_donor ALPP 16 82584 1.93742E-4 41292 0 2.55412E-4
2-233244646-C-T p.Asp219Asp splice_region+synonymous ALPP 321 82352 0.0038979 41176 0 0.00918836
2-233244646-C-G p.Asp219Glu missense+splice_region ALPP 2 82498 2.4243E-5 41249 0 6.26566E-4
2-233244647-G-A c.657+1G>A splice_donor ALPP 2 82462 2.42536E-5 41231 0 8.30792E-6
2-233244650-C-T c.657+4C>T splice_region ALPP 1 82308 1.21495E-5 41154 0 7.06901E-5
2-233244651-G-A c.657+5G>A splice_region ALPP 1 82314 1.21486E-5 41157 0 6.38284E-5
2-233244654-C-T c.657+8C>T splice_region ALPP 8 82298 9.72077E-5 41149 0 2.23214E-4
2-233244897-T-G p.Val220Gly missense+splice_region ALPP 1 83312 1.20031E-5 41656 0 NA
2-233244907-T-C p.Gly223Gly synonymous ALPP 3 83314 3.60084E-5 41657 0 1.19323E-5
2-233244913-C-G p.Gly225Gly synonymous ALPP 1 83316 1.20025E-5 41658 0 8.24266E-6
2-233244913-C-T p.Gly225Gly synonymous ALPP 1 83316 1.20025E-5 41658 0 NA
2-233244914-C-T p.Arg226* stop_gained ALPP 3 83312 3.60092E-5 41656 0 6.37633E-5
2-233244915-G-A p.Arg226Gln missense ALPP 32 83306 3.84126E-4 41653 0 0.00149796
2-233244923-A-G p.Met229Val missense ALPP 1 83334 1.19999E-5 41667 0 NA
2-233244924-T-TGTTTC p.Met232fs frameshift ALPP 2 83338 2.39987E-5 41669 0 NA
2-233244929-CG-C p.Arg231fs frameshift ALPP 2 83332 2.40004E-5 41666 0 NA
2-233244930-G-C p.Arg231Pro missense ALPP 18026 76068 0.236972 38034 2562 0.221388
2-233244930-G-A p.Arg231His missense ALPP 3 83330 3.60014E-5 41665 0 8.02568E-4
2-233244930-G-T p.Arg231Leu missense ALPP 1 83330 1.20005E-5 41665 0 8.2428E-6
2-233244931-C-A p.Arg231Arg synonymous ALPP 1 83330 1.20005E-5 41665 0 NA
2-233244934-G-A p.Met232Ile missense ALPP 64 83328 7.68049E-4 41664 0 0.00219843
2-233244937-A-G p.Gly233Gly synonymous ALPP 29 64734 4.47987E-4 32367 0 0.0975
2-233244950-G-A p.Glu238Lys missense ALPP 2 83340 2.39981E-5 41670 0 NA
2-233244950-G-C p.Glu238Gln missense ALPP 2 83340 2.39981E-5 41670 0 1.98842E-5
2-233244950-G-T p.Glu238* stop_gained ALPP 1 83340 1.1999E-5 41670 0 NA
2-233244957-C-A p.Pro240Gln missense ALPP 1 83314 1.20028E-5 41657 0 NA
2-233244967-C-T p.Tyr243Tyr synonymous ALPP 3 83302 3.60135E-5 41651 0 2.4717E-5
2-233244968-A-G p.Ser244Gly missense ALPP 180 83284 0.00216128 41642 0 0.00548574
2-233244975-G-A p.Gly246Asp missense ALPP 1 83282 1.20074E-5 41641 0 NA
2-233244984-G-A p.Arg249Lys missense ALPP 2 83276 2.40165E-5 41638 0 5.76796E-5
2-233244985-G-C p.Arg249Ser missense ALPP 2 83278 2.40159E-5 41639 0 8.23995E-6
2-233244989-G-A p.Asp251Asn missense ALPP 5 83278 6.00399E-5 41639 0 1.27657E-4
2-233244991-C-T p.Asp251Asp synonymous ALPP 10 83250 1.2012E-4 41625 0 4.94405E-5
2-233244992-G-A p.Gly252Arg missense ALPP 1 83260 1.20106E-5 41630 0 8.24022E-6
2-233244994-G-A p.Gly252Gly synonymous ALPP 1 83264 1.201E-5 41632 0 1.64804E-5
2-233245001-C-T p.Leu255Leu synonymous ALPP 1 83226 1.20155E-5 41613 0 1.64818E-5
2-233245005-T-A p.Val256Glu missense ALPP 1 83212 1.20175E-5 41606 0 NA
2-233245020-C-T p.Ala261Val missense ALPP 2 82858 2.41377E-5 41429 0 5.25214E-5
2-233245021-G-GA p.Arg263fs frameshift ALPP 4 82912 4.82439E-5 41456 0 3.98194E-6
2-233245025-C-T p.Arg263Cys missense ALPP 2 82782 2.41598E-5 41391 0 1.32468E-4
2-233245025-C-G p.Arg263Gly missense ALPP 1 82794 1.20782E-5 41397 0 1.65585E-5
2-233245026-G-A p.Arg263His missense ALPP 3836 78604 0.0488016 39302 195 0.0916415
2-233245038-G-C c.792+8G>C splice_region ALPP 60 82962 7.23223E-4 41481 1 0.0015679
2-233245126-A-G c.793-4A>G splice_region ALPP 25 82740 3.02151E-4 41370 0 0.004375
2-233245136-C-T p.Arg267Trp missense ALPP 2 82706 2.4182E-5 41353 0 9.59754E-5
2-233245137-G-A p.Arg267Gln missense ALPP 3 82694 3.62783E-5 41347 0 7.95646E-6
2-233245141-T-C p.Tyr268Tyr synonymous ALPP 27825 48018 0.57947 24009 7756 0.651057
2-233245141-T-G p.Tyr268* stop_gained ALPP 5 82692 6.04653E-5 41346 0 6.69703E-5
2-233245142-G-A p.Val269Met missense ALPP 1 82736 1.20866E-5 41368 0 3.19795E-5
2-233245151-C-A p.Arg272Ser missense ALPP 1 82846 1.20706E-5 41423 0 6.39713E-5
2-233245152-G-A p.Arg272His missense ALPP 18 82836 2.17297E-4 41418 0 1.39205E-4
2-233245152-G-C p.Arg272Pro missense ALPP 1 82842 1.20712E-5 41421 0 3.97728E-6
2-233245154-A-G p.Thr273Ala missense ALPP 1 82864 1.2068E-5 41432 0 7.95399E-6
2-233245163-A-C p.Met276Leu missense ALPP 29 82488 3.51566E-4 41244 0 0.00617403
2-233245169-G-C p.Ala278Pro missense ALPP 1 82926 1.20589E-5 41463 0 NA
2-233245179-A-T p.Asp281Val missense ALPP 2 82802 2.4154E-5 41401 0 NA
2-233245183-G-A p.Pro282Pro synonymous ALPP 1 82808 1.20761E-5 41404 0 6.39959E-5
2-233245190-A-G p.Thr285Ala missense ALPP 2 82706 2.4182E-5 41353 0 NA
2-233245195-T-C p.His286His synonymous ALPP 2 82630 2.42043E-5 41315 0 4.11997E-5
2-233245207-T-G c.865+5T>G splice_region ALPP 12 81854 1.46602E-4 40927 0 0.00686646
2-233245207-T-C c.865+5T>C splice_region ALPP 1 82476 1.21247E-5 41238 0 1.64929E-5
2-233245210-C-T c.865+8C>T splice_region ALPP 6516 57974 0.112395 28987 0 0.20645
2-233245332-G-C c.866-1G>C splice_acceptor ALPP 1 80722 1.23882E-5 40361 0 3.98384E-6
2-233245355-GA-G p.Lys297fs frameshift ALPP 2 80518 2.48392E-5 40259 0 6.91276E-5
2-233245372-G-A p.Arg302Gln missense ALPP 1 81306 1.22992E-5 40653 0 1.16032E-4
2-233245373-A-G p.Arg302Arg synonymous ALPP 1 81336 1.22947E-5 40668 0 1.65703E-5
2-233245390-C-T p.Pro308Leu missense ALPP 8 81290 9.84131E-5 40645 0 0.00176977
2-233245460-C-T p.Phe331Phe synonymous ALPP 35 78952 4.43307E-4 39476 0 0.0110994
2-233245472-G-A c.1000+5G>A splice_region ALPP 1 79076 1.26461E-5 39538 0 1.2751E-4
2-233245591-C-G p.Arg348Gly missense ALPP 4 20180 1.98216E-4 10090 0 0.0120213
2-233245591-C-T p.Arg348Trp missense ALPP 11 20126 5.46557E-4 10063 1 0.00549545
2-233245654-G-C p.Glu369Gln missense ALPP 1 18008 5.55309E-5 9004 0 9.44255E-5
2-233245685-A-ACCACTC p.Ser381_His382dup conservative_inframe_insertion ALPP 1 18734 5.33789E-5 9367 0 NA
2-233245717-C-T p.Pro390Ser missense ALPP 1 21484 4.65463E-5 10742 0 NA
2-233245723-C-T p.Arg392* stop_gained ALPP 2 22372 8.93975E-5 11186 0 6.43501E-4
2-233245948-CCT-C c.1193-6_1193-5delCT splice_region ALPP 1 80218 1.2466E-5 40109 0 NA
2-233245958-C-A c.1193-3C>A splice_region ALPP 9774 75000 0.13032 37500 325 0.164151
2-233245966-GC-G p.Pro401fs frameshift ALPP 1 80830 1.23716E-5 40415 0 NA
2-233245971-T-C p.Pro401Pro synonymous ALPP 5 81038 6.16995E-5 40519 0 6.40861E-5
2-233245973-G-A p.Gly402Asp missense ALPP 2 81054 2.46749E-5 40527 0 8.62977E-4
2-233245981-C-G p.Arg405Gly missense ALPP 1 81324 1.22965E-5 40662 0 2.41072E-5
2-233245982-G-A p.Arg405Gln missense ALPP 189 81132 0.00232954 40566 2 0.00875
2-233245984-G-A p.Asp406Asn missense ALPP 1 81388 1.22868E-5 40694 0 NA
2-233245993-GC-G p.Tyr410fs frameshift ALPP 1 81744 1.22333E-5 40872 0 1.70582E-5
2-233245994-C-T p.Ala409Val missense ALPP 1 81776 1.22285E-5 40888 0 NA
2-233245995-C-A p.Ala409Ala synonymous ALPP 4 81866 4.88603E-5 40933 0 9.57488E-5
2-233246001-G-A p.Thr411Thr synonymous ALPP 1 82028 1.2191E-5 41014 0 NA
2-233246001-G-C p.Thr411Thr synonymous ALPP 1 82028 1.2191E-5 41014 0 1.68905E-5
2-233246002-G-A p.Val412Ile missense ALPP 119 81966 0.00145182 40983 1 0.00787815
2-233246013-C-T p.Tyr415Tyr synonymous ALPP 1 82354 1.21427E-5 41177 0 8.36918E-6
2-233246043-C-T p.Asp425Asp synonymous ALPP 1 82826 1.20735E-5 41413 0 3.98004E-6
2-233246044-G-T p.Gly426Cys missense ALPP 1 82838 1.20718E-5 41419 0 2.48975E-5
2-233246051-G-A p.Arg428Gln missense ALPP 1 82906 1.20619E-5 41453 0 1.65859E-5
2-233246054-C-T p.Pro429Leu missense ALPP 3 82926 3.61768E-5 41463 0 8.2927E-6
2-233246064-C-G p.Thr432Thr synonymous ALPP 5 82966 6.02657E-5 41483 0 0.00125
2-233246066-A-AG p.Ser434fs frameshift ALPP 2 83026 2.40888E-5 41513 0 NA
2-233246071-G-A p.Glu435Lys missense ALPP 1 83044 1.20418E-5 41522 0 2.2302E-4
2-233246076-C-A p.Ser436Arg missense+splice_region ALPP 1 83046 1.20415E-5 41523 0 3.18573E-5
2-233246078-G-C c.1309+1G>C splice_donor ALPP 1 83058 1.20398E-5 41529 0 3.98715E-6
2-233246078-G-T c.1309+1G>T splice_donor ALPP 1 83060 1.20395E-5 41530 0 3.18593E-5
2-233246205-A-G c.1310-2A>G splice_acceptor ALPP 7 82398 8.49535E-5 41199 0 3.45614E-5
2-233246208-G-A p.Gly437Gly splice_region+synonymous ALPP 2 82362 2.4283E-5 41181 0 8.63618E-6
2-233246221-C-T p.Arg442Trp missense ALPP 202 82096 0.00246053 41048 0 0.00265054
2-233246221-C-G p.Arg442Gly missense ALPP 1 82110 1.21788E-5 41055 0 8.66191E-6
2-233246239-C-T p.Pro448Ser missense ALPP 10 81636 1.22495E-4 40818 0 2.01533E-5
2-233246239-C-A p.Pro448Thr missense ALPP 3 81638 3.67476E-5 40819 0 4.03067E-6
2-233246247-C-G p.Asp450Glu missense ALPP 101 81462 0.00123984 40731 1 5.96375E-4
2-233246249-A-G p.Glu451Gly missense ALPP 185 81088 0.00228147 40544 0 0.0141129
2-233246255-C-T p.Thr453Ile missense ALPP 1 81392 1.22862E-5 40696 0 5.04541E-4
2-233246276-C-T p.Ala460Val missense ALPP 4 80870 4.94621E-5 40435 0 9.00836E-6
2-233246292-C-T p.Gly465Gly synonymous ALPP 1 80450 1.24301E-5 40225 0 NA
2-233246295-G-A p.Pro466Pro synonymous ALPP 4 80332 4.97934E-5 40166 0 6.38081E-5
2-233246300-C-A p.Ala468Glu missense ALPP 1 80186 1.2471E-5 40093 0 1.1942E-4
2-233246302-C-T p.His469Tyr missense ALPP 1 80226 1.24648E-5 40113 0 3.19142E-5
2-233246303-A-C p.His469Pro missense ALPP 1 80182 1.24716E-5 40091 0 9.38509E-6
2-233246304-C-G p.His469Gln missense ALPP 3 80258 3.73795E-5 40129 1 5.62883E-5
2-233246313-C-T p.His472His synonymous ALPP 1 79910 1.25141E-5 39955 0 NA
2-233246317-G-A p.Val474Met missense ALPP 1 79676 1.25508E-5 39838 0 NA
2-233246321-A-G p.Gln475Arg missense ALPP 2 79620 2.51193E-5 39810 0 8.30172E-6
2-233246322-G-A p.Gln475Gln synonymous ALPP 4 79578 5.02651E-5 39789 0 2.90828E-5
2-233246336-T-G p.Ile480Arg missense ALPP 2 78686 2.54175E-5 39343 0 3.19224E-5
2-233246336-T-C p.Ile480Thr missense ALPP 1 78690 1.27081E-5 39345 0 3.19224E-5
2-233246348-T-C p.Met484Thr missense ALPP 1 77738 1.28637E-5 38869 0 3.35655E-5
2-233246356-G-A p.Ala487Thr missense ALPP 2 76294 2.62144E-5 38147 0 NA
2-233246360-C-A p.Ala488Asp missense ALPP 2 76452 2.61602E-5 38226 0 NA
2-233246373-C-T p.Pro492Pro synonymous ALPP 2 76188 2.62509E-5 38094 0 4.02083E-5
2-233246379-C-G p.Thr494Thr synonymous ALPP 1 75792 1.3194E-5 37896 0 NA
2-233246385-C-A p.Cys496* stop_gained ALPP 1 75278 1.32841E-5 37639 0 NA
2-233246389-C-G p.Leu498Val missense ALPP 2 75694 2.64222E-5 37847 0 NA
2-233246393-C-T p.Ala499Val missense ALPP 2 75264 2.65731E-5 37632 0 5.60548E-5
2-233246394-G-GC p.Ala502fs frameshift ALPP 1 74968 1.3339E-5 37484 0 1.04817E-5
2-233246395-C-T p.Pro500Ser missense ALPP 1 75642 1.32202E-5 37821 0 1.03565E-5
2-233246396-C-T p.Pro500Leu missense ALPP 17 75872 2.24062E-4 37936 0 6.70669E-4
2-233246399-C-G p.Pro501Arg missense ALPP 139 75636 0.00183775 37818 4 0.0035875
2-233246405-G-T p.Gly503Val missense ALPP 1 76050 1.31492E-5 38025 0 1.05916E-5
2-233246422-C-G p.His509Asp missense ALPP 2 76358 2.61924E-5 38179 0 NA
2-233246427-G-A p.Pro510Pro synonymous ALPP 3 76558 3.9186E-5 38279 0 0.00125471
2-233246432-G-C p.Arg512Pro missense ALPP 41 76290 5.37423E-4 38145 1 0.00376412
2-233246442-C-T p.Val515Val synonymous ALPP 2 77386 2.58445E-5 38693 0 5.07614E-4
2-233246443-C-A p.Pro516Thr missense ALPP 12 77462 1.54915E-4 38731 0 0.00152284
2-233246445-C-T p.Pro516Pro synonymous ALPP 2 77460 2.58198E-5 38730 0 1.36709E-5
2-233246447-C-A p.Ala517Glu missense ALPP 3 77458 3.87307E-5 38729 0 2.24755E-5
2-233246456-C-G p.Pro520Arg missense ALPP 2 78128 2.5599E-5 39064 0 4.56317E-6
2-233246457-T-C p.Pro520Pro synonymous ALPP 10 78064 1.281E-4 39032 0 1.76351E-4
2-233246462-T-C p.Leu522Pro missense ALPP 5 77996 6.41059E-5 38998 0 3.19387E-5
2-233246466-C-A p.Ala523Ala synonymous ALPP 34 77618 4.38043E-4 38809 1 0.0222363
2-233246466-C-T p.Ala523Ala synonymous ALPP 3 78026 3.84487E-5 39013 0 1.95641E-5
2-233246472-C-CCTG p.Leu529dup conservative_inframe_insertion ALPP 1 78290 1.2773E-5 39145 0 9.46629E-6
2-233246473-C-T p.Leu526Leu synonymous ALPP 43 77896 5.52018E-4 38948 2 0.0158831
2-233246473-C-G p.Leu526Val missense ALPP 1 78306 1.27704E-5 39153 0 6.40533E-5
2-233246484-G-A p.Leu529Leu synonymous ALPP 1 78504 1.27382E-5 39252 0 1.95771E-5
2-233246486-A-G p.Glu530Gly missense ALPP 72 78070 9.22249E-4 39035 2 0.00381679
2-233246488-A-T p.Thr531Ser missense ALPP 2 78404 2.55089E-5 39202 0 2.05044E-5
2-233246489-C-A p.Thr531Lys missense ALPP 62 78418 7.90635E-4 39209 0 0.00160296
2-233246489-C-T p.Thr531Met missense ALPP 1 78418 1.27522E-5 39209 0 1.48892E-5
2-233246497-G-C p.Ala534Pro missense ALPP 1 78570 1.27275E-5 39285 0 9.58344E-5
2-233246498-C-T p.Ala534Val missense ALPP 6 78562 7.63728E-5 39281 0 1.59714E-4