Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-21880466-T-C c.-104-5T>C splice_region ALPL 42 77412 5.42552E-4 38706 0 6.6896E-4
1-21880524-C-T c.-51C>T 5_prime_UTR_premature_start_codon_gain ALPL 2 78372 2.55193E-5 39186 0 1.19408E-5
1-21880579-T-C p.Ile2Thr missense ALPL 2 83140 2.40558E-5 41570 0 NA
1-21880596-C-T p.Leu8Leu synonymous ALPL 1 83194 1.20201E-5 41597 0 8.23873E-6
1-21880596-C-G p.Leu8Val missense ALPL 4 83194 4.80804E-5 41597 0 3.97633E-6
1-21880600-C-T p.Ala9Val missense ALPL 4 83202 4.80758E-5 41601 0 8.23845E-6
1-21880614-C-T p.Leu14Phe missense ALPL 11 83232 1.32161E-4 41616 0 9.56328E-5
1-21880618-C-G p.Thr15Ser missense ALPL 7 83214 8.41205E-5 41607 0 5.76663E-4
1-21880619-T-C p.Thr15Thr synonymous ALPL 1 83196 1.20198E-5 41598 0 NA
1-21880624-C-T p.Ser17Phe missense ALPL 2 83188 2.40419E-5 41594 0 NA
1-21880635-G-GGACGGCT c.61_61+1insGACGGCT splice_donor ALPL 1 83048 1.20412E-5 41524 0 NA
1-21880637-T-G c.61+2T>G splice_donor ALPL 1 83028 1.20441E-5 41514 0 8.23845E-6
1-21887155-C-T p.Ala33Val missense ALPL 3 83344 3.59954E-5 41672 0 3.18613E-5
1-21887156-G-A p.Ala33Ala synonymous ALPL 4 83348 4.79916E-5 41674 0 1.64783E-5
1-21887168-G-A p.Leu37Leu synonymous ALPL 1 83346 1.19982E-5 41673 0 1.64785E-5
1-21887174-T-C p.Met1? start_lost ALPL 1 83342 1.19988E-5 41671 0 1.6481E-5
1-21887192-G-A p.Ser7Asn missense ALPL 3 83342 3.59963E-5 41671 0 7.95355E-6
1-21887204-C-T p.Thr11Met missense ALPL 1 83342 1.19988E-5 41671 0 0.00100705
1-21887205-G-A p.Val50Met missense ALPL 1 83336 1.19996E-5 41668 0 1.19324E-5
1-21887217-GTCA-G p.Met1del start_lost ALPL 2 83322 2.40033E-5 41661 0 8.27034E-6
1-21887220-A-G p.Ile55Val missense ALPL 1 83318 1.20022E-5 41659 0 NA
1-21887223-A-C p.Met56Leu missense ALPL 1 83310 1.20034E-5 41655 0 NA
1-21887245-C-T c.181+7C>T splice_region ALPL 1 83228 1.20152E-5 41614 0 8.33903E-6
1-21887246-C-A c.181+8C>A splice_region ALPL 2 83232 2.40292E-5 41616 0 NA
1-21887596-G-T p.Gly63Val missense ALPL 2 82322 2.42948E-5 41161 0 NA
1-21887598-G-A p.Val64Ile missense ALPL 1 82310 1.21492E-5 41155 0 NA
1-21887612-G-A p.Thr68Thr synonymous ALPL 2 82572 2.42213E-5 41286 0 1.21651E-5
1-21887616-G-A p.Ala70Thr missense ALPL 1 82596 1.21071E-5 41298 0 1.04426E-5
1-21887619-C-T p.Arg71Cys missense ALPL 3 82662 3.62924E-5 41331 0 NA
1-21887629-A-G p.Lys74Arg missense ALPL 1 82784 1.20796E-5 41392 0 1.92723E-5
1-21887642-C-A p.His78Gln missense ALPL 1 82844 1.20709E-5 41422 0 4.00445E-6
1-21887642-C-T p.His78His synonymous ALPL 1 82844 1.20709E-5 41422 0 NA
1-21887647-A-G p.Asn80Ser missense ALPL 3 82878 3.61978E-5 41439 0 1.20133E-5
1-21887657-G-A p.Glu83Glu synonymous ALPL 1 82900 1.20627E-5 41450 0 NA
1-21887662-C-G p.Thr85Ser missense ALPL 1 82864 1.2068E-5 41432 0 NA
1-21887667-C-T p.Leu87Leu synonymous ALPL 1 82820 1.20744E-5 41410 0 9.8255E-6
1-21887683-TC-T p.Phe94fs frameshift ALPL 2 82666 2.41937E-5 41333 0 NA
1-21887691-G-A p.Val95Met missense ALPL 7 82476 8.48732E-5 41238 0 3.29313E-5
1-21887691-G-C p.Val95Leu missense ALPL 1 82476 1.21247E-5 41238 0 NA
1-21887711-C-T c.297+6C>T splice_region ALPL 5 81844 6.10918E-5 40922 0 3.18756E-5
1-21889605-G-A p.Thr100Thr splice_region+synonymous ALPL 5 82790 6.03938E-5 41395 0 1.67639E-5
1-21889608-C-G p.Tyr101* stop_gained ALPL 1 82840 1.20715E-5 41420 0 NA
1-21889611-C-T p.Asn102Asn synonymous ALPL 2 82884 2.41301E-5 41442 0 1.59502E-5
1-21889612-A-G p.Thr103Ala missense ALPL 2 82884 2.41301E-5 41442 0 3.98775E-6
1-21889635-T-C p.Ser110Ser synonymous ALPL 77429 82354 0.940197 41177 36449 0.947245
1-21889644-C-T p.Thr113Thr synonymous ALPL 2 82950 2.41109E-5 41475 0 3.18573E-5
1-21889646-C-A p.Ala114Asp missense ALPL 1 82946 1.2056E-5 41473 0 NA
1-21889650-C-T p.Thr115Thr synonymous ALPL 1 82918 1.20601E-5 41459 0 6.37064E-5
1-21889651-G-A p.Ala116Thr missense ALPL 1 82912 1.2061E-5 41456 0 6.25E-4
1-21889657-C-A p.Leu118Met missense ALPL 8 82926 9.64716E-5 41463 0 3.18492E-5
1-21889661-G-C p.Cys119Ser missense ALPL 2 82960 2.4108E-5 41480 0 8.28679E-6
1-21889674-C-A p.Ala123Ala synonymous ALPL 2 82944 2.41127E-5 41472 0 1.74095E-4
1-21889686-C-T p.Thr127Thr synonymous ALPL 3 82862 3.62048E-5 41431 0 2.48793E-5
1-21889687-G-A p.Val128Met missense ALPL 2 82878 2.41319E-5 41439 0 NA
1-21889689-G-A p.Val128Val synonymous ALPL 1 82924 1.20592E-5 41462 0 NA
1-21889702-G-A p.Ala133Thr missense ALPL 1 82902 1.20624E-5 41451 0 NA
1-21889703-C-G p.Ala133Gly missense ALPL 2 82902 2.41249E-5 41451 0 1.59286E-4
1-21889705-AC-CA p.Thr134His missense ALPL 2 82904 2.41243E-5 41452 0 NA
1-21889705-A-C p.Thr134Pro missense ALPL 1 82904 1.20621E-5 41452 0 5.17937E-5
1-21889706-C-A p.Thr134Asn missense ALPL 1 82902 1.20624E-5 41451 0 5.17994E-5
1-21889711-C-T p.Arg136Cys missense ALPL 1 82836 1.2072E-5 41418 0 1.1957E-5
1-21889712-G-A p.Arg136His missense ALPL 5 82814 6.03763E-5 41407 0 1.99495E-4
1-21889715-C-T p.Ser137Phe missense ALPL 1 82810 1.20758E-5 41405 0 NA
1-21889717-C-T p.Arg138Trp missense ALPL 2 82794 2.41563E-5 41397 0 1.66373E-5
1-21889718-G-A p.Arg138Gln missense ALPL 52 82768 6.28262E-4 41384 0 0.00100806
1-21889721-G-A p.Cys139Tyr missense ALPL 1 82754 1.2084E-5 41377 0 NA
1-21889740-C-T p.Asn145Asn synonymous ALPL 1 82654 1.20986E-5 41327 0 NA
1-21889741-G-A p.Glu146Lys missense ALPL 7 82640 8.47047E-5 41320 0 1.67238E-4
1-21889744-G-A p.Val147Ile missense ALPL 1 82610 1.21051E-5 41305 0 NA
1-21889747-A-G p.Thr148Ala missense ALPL 1 82534 1.21162E-5 41267 0 NA
1-21889759-C-T p.Arg152Cys missense ALPL 1 82472 1.21253E-5 41236 0 3.19734E-5
1-21889760-G-A p.Arg152His missense ALPL 1052 82416 0.0127645 41208 16 0.02375
1-21889773-C-T p.Asp156Asp synonymous ALPL 23 82282 2.79527E-4 41141 0 5.04032E-4
1-21889784-CG-C c.472+8delG splice_region ALPL 13042 81816 0.159406 40908 1142 0.140423
1-21889785-G-A c.472+8G>A splice_region ALPL 2 78836 2.53691E-5 39418 0 3.83166E-4
1-21890528-C-T c.473-6C>T splice_region ALPL 3 82668 3.62897E-5 41334 0 3.99917E-6
1-21890562-G-A p.Thr167Thr synonymous ALPL 1 83038 1.20427E-5 41519 0 5.03525E-4
1-21890587-G-A p.Ala176Thr missense ALPL 10 83064 1.20389E-4 41532 0 1.27543E-4
1-21890589-C-T p.Ala176Ala synonymous ALPL 2 83072 2.40755E-5 41536 0 6.37308E-5
1-21890590-G-A p.Ala177Thr missense ALPL 2 83076 2.40743E-5 41538 0 1.32402E-4
1-21890595-C-T p.Tyr178Tyr synonymous ALPL 17 83096 2.04583E-4 41548 0 0.00100705
1-21890603-C-T p.Ser181Leu missense ALPL 2 83092 2.40697E-5 41546 0 3.982E-5
1-21890611-C-T p.Arg184Trp missense ALPL 1 83090 1.20351E-5 41545 0 3.18837E-5
1-21890632-G-A p.Glu191Lys missense ALPL 35 83138 4.20987E-4 41569 0 0.00274147
1-21890632-G-C p.Glu191Gln missense ALPL 1 83140 1.20279E-5 41570 0 3.98083E-6
1-21890636-T-C p.Met192Thr missense ALPL 12 83122 1.44366E-4 41561 0 6.36887E-5
1-21890643-T-C p.Pro194Pro synonymous ALPL 11 83126 1.32329E-4 41563 5 3.30896E-5
1-21890663-G-A p.Cys201Tyr missense ALPL 1 83134 1.20288E-5 41567 0 NA
1-21890667-G-A p.Lys202Lys synonymous ALPL 2 83128 2.40593E-5 41564 0 7.96235E-6
1-21890671-A-T p.Ile204Phe missense ALPL 1 83118 1.20311E-5 41559 0 8.28212E-6
1-21890671-A-G p.Ile204Val missense ALPL 2 83118 2.40622E-5 41559 0 3.18796E-5
1-21890673-C-T p.Ile204Ile synonymous ALPL 59 83096 7.10022E-4 41548 0 6.70919E-4
1-21890681-A-C p.Gln207Pro missense ALPL 2 83070 2.40761E-5 41535 0 NA
1-21890708-A-ACGTGAGTG p.Met209fs frameshift ALPL 3 82626 3.63082E-5 41313 0 3.99498E-6
1-21890708-A-G p.Asp216Gly missense+splice_region ALPL 1 82626 1.21027E-5 41313 0 NA
1-21890709-C-T p.Asp216Asp splice_region+synonymous ALPL 3 82596 3.63214E-5 41298 0 1.58754E-4
1-21890710-G-A c.648+1G>A splice_donor ALPL 1 82560 1.21124E-5 41280 0 8.35617E-6
1-21890715-T-C c.648+6T>C splice_region ALPL 2 82320 2.42954E-5 41160 0 NA
1-21894602-C-T p.Ile218Ile synonymous ALPL 1 83348 1.19979E-5 41674 0 NA
1-21894604-TG-T p.Gly221fs frameshift ALPL 1 83342 1.19988E-5 41671 0 8.24131E-6
1-21894623-C-T p.Tyr225Tyr synonymous ALPL 1 83352 1.19973E-5 41676 0 6.37105E-5
1-21894624-A-G p.Met226Val missense ALPL 1 83358 1.19964E-5 41679 0 6.25E-4
1-21894639-A-G p.Lys231Glu missense ALPL 3 83366 3.59859E-5 41683 0 5.03525E-4
1-21894647-T-C p.Asp233Asp synonymous ALPL 2 83362 2.39917E-5 41681 0 NA
1-21894649-T-C p.Val234Ala missense ALPL 1 83366 1.19953E-5 41683 0 1.193E-5
1-21894665-C-T p.Asp239Asp synonymous ALPL 1 83356 1.19967E-5 41678 0 6.37471E-5
1-21894666-G-A p.Glu240Lys missense ALPL 5 83356 5.99837E-5 41678 0 NA
1-21894682-C-T p.Thr245Met missense ALPL 8 83340 9.59923E-5 41670 0 1.03418E-4
1-21894692-C-T p.Asp248Asp synonymous ALPL 48 83344 5.75926E-4 41672 0 0.00302115
1-21894693-G-A p.Gly249Ser missense ALPL 1 83340 1.1999E-5 41670 0 8.24878E-6
1-21894694-G-C p.Gly249Ala missense ALPL 3 83336 3.59988E-5 41668 0 3.18715E-5
1-21894704-C-T p.Leu252Leu synonymous ALPL 1 83340 1.1999E-5 41670 0 3.97817E-6
1-21894705-G-A p.Val253Ile missense ALPL 1 83332 1.20002E-5 41666 0 1.19353E-5
1-21894721-G-A p.Ser258Asn missense ALPL 2 83308 2.40073E-5 41654 0 8.25587E-6
1-21894730-C-A p.Pro261Gln missense ALPL 1 83274 1.20085E-5 41637 0 1.65248E-5
1-21894735-T-C p.Tyr263His missense ALPL 12208 83036 0.147021 41518 1075 0.183451
1-21896815-G-A p.Trp270* stop_gained ALPL 1 83242 1.20132E-5 41621 0 NA
1-21896819-C-T p.Arg272Cys missense ALPL 1 83234 1.20143E-5 41617 0 1.65423E-5
1-21896823-C-T p.Thr273Met missense ALPL 222 83206 0.00266808 41603 1 0.00167488
1-21896843-C-A p.Pro280Thr missense ALPL 1 83176 1.20227E-5 41588 0 3.18552E-5
1-21896851-T-C p.Asn282Asn synonymous ALPL 5 83152 6.01308E-5 41576 0 1.98973E-5
1-21896863-A-G c.-70A>G 5_prime_UTR_premature_start_codon_gain ALPL 34 83110 4.09096E-4 41555 0 0.00193316
1-21896864-T-C c.-69T>C 5_prime_UTR_premature_start_codon_gain ALPL 34 83116 4.09067E-4 41558 0 0.00146749
1-21896873-T-C c.-66+6T>C splice_region ALPL 1 83006 1.20473E-5 41503 0 3.98794E-6
1-21900149-CCT-TCC c.863-9_863-7delCCTinsTCC splice_region ALPL 2 82762 2.41657E-5 41381 0 NA
1-21900151-T-C c.863-7T>C splice_region ALPL 11639 82234 0.141535 41117 944 0.176482
1-21900166-G-A p.Glu291Lys missense ALPL 1 82926 1.20589E-5 41463 0 NA
1-21900169-CCA-ACG p.Pro292Thr missense ALPL 3 82976 3.6155E-5 41488 0 NA
1-21900171-A-G p.Pro292Pro synonymous ALPL 12412 82504 0.150441 41252 1124 0.187628
1-21900175-G-T p.Asp294Tyr missense ALPL 1 83028 1.20441E-5 41514 0 NA
1-21900176-A-C p.Asp294Ala missense ALPL 6 83022 7.227E-5 41511 0 9.59079E-5
1-21900179-T-C p.Met295Thr missense ALPL 1 83068 1.20383E-5 41534 0 7.96673E-6
1-21900187-G-A p.Glu298Lys missense ALPL 1 83072 1.20378E-5 41536 0 1.9914E-5
1-21900201-C-A p.Asn302Lys missense ALPL 3 83108 3.60976E-5 41554 0 7.49051E-5
1-21900205-G-A p.Val304Met missense ALPL 1 83084 1.2036E-5 41542 0 4.77741E-5
1-21900209-C-T p.Thr305Met missense ALPL 6 83074 7.22248E-5 41537 0 1.59571E-4
1-21900210-G-A p.Thr305Thr synonymous ALPL 1 83090 1.20351E-5 41545 0 2.78687E-5
1-21900213-C-T p.Asp306Asp synonymous ALPL 3 83100 3.61011E-5 41550 0 4.1551E-5
1-21900215-C-T p.Pro307Leu missense ALPL 2 83110 2.40645E-5 41555 0 1.66262E-5
1-21900216-G-A p.Pro307Pro synonymous ALPL 1 83110 1.20322E-5 41555 0 NA
1-21900223-T-A p.Ser310Thr missense ALPL 1 83106 1.20328E-5 41553 0 8.3062E-6
1-21900225-C-T p.Ser310Ser synonymous ALPL 2 83116 2.40628E-5 41558 0 2.49186E-5
1-21900226-G-A p.Glu311Lys missense ALPL 4 83118 4.81244E-5 41559 0 3.18939E-5
1-21900232-G-C p.Val313Leu missense ALPL 2 83116 2.40628E-5 41558 0 8.30441E-6
1-21900232-G-A p.Val313Met missense ALPL 1 83116 1.20314E-5 41558 0 NA
1-21900250-A-G p.Ile319Val missense ALPL 1 83084 1.2036E-5 41542 0 3.98007E-6
1-21900256-C-T p.Arg321Trp missense ALPL 1 83072 1.20378E-5 41536 0 1.59347E-4
1-21900257-G-A p.Arg321Gln missense ALPL 5 83054 6.02018E-5 41527 0 4.98521E-5
1-21900272-GCTT-G p.Phe328del disruptive_inframe_deletion ALPL 3 83008 3.61411E-5 41504 0 3.32745E-5
1-21900274-T-C p.Phe327Leu missense ALPL 1 83004 1.20476E-5 41502 0 9.56023E-5
1-21900289-G-T p.Glu332* stop_gained ALPL 1 82918 1.20601E-5 41459 0 NA
1-21901016-C-T c.-286C>T 5_prime_UTR_premature_start_codon_gain ALPL 2 1894 0.00105597 947 0 4.07299E-5
1-21902230-C-T p.Gly334Gly synonymous ALPL 51 82594 6.17478E-4 41297 0 3.74609E-4
1-21902242-C-T c.-49C>T 5_prime_UTR_premature_start_codon_gain ALPL 8 82750 9.66767E-5 41375 0 1.59236E-4
1-21902283-C-T p.Ala352Val missense ALPL 2 83276 2.40165E-5 41638 0 3.97668E-6
1-21902284-G-A p.Ala352Ala synonymous ALPL 2 83274 2.40171E-5 41637 0 3.18552E-5
1-21902297-C-T p.Arg3Trp missense ALPL 3 83296 3.60161E-5 41648 0 3.29554E-5
1-21902298-G-A p.Arg3Gln missense ALPL 2 83302 2.4009E-5 41651 0 1.98823E-5
1-21902299-G-A p.Arg3Arg synonymous ALPL 1 83310 1.20034E-5 41655 0 NA
1-21902301-C-T p.Ala4Val missense ALPL 2 83306 2.40079E-5 41653 0 3.18552E-5
1-21902306-G-A p.Gly6Arg missense ALPL 4 83314 4.80111E-5 41657 0 5.7673E-5
1-21902312-G-A p.Ala8Thr missense ALPL 1 83310 1.20034E-5 41655 0 3.97633E-6
1-21902331-C-T p.Ser14Leu missense ALPL 5 83348 5.99894E-5 41674 0 4.11889E-5
1-21902347-C-T p.Thr19Thr synonymous ALPL 275 83352 0.00329926 41676 0 0.0083774
1-21902348-G-A p.Val20Met missense ALPL 1 83356 1.19967E-5 41678 0 6.36983E-5
1-21902359-G-A p.Ala23Ala synonymous ALPL 1 83360 1.19962E-5 41680 0 3.18593E-5
1-21902393-AC-A p.Arg37fs frameshift ALPL 1 83348 1.19979E-5 41674 0 3.29478E-5
1-21902393-A-G p.Thr35Ala missense ALPL 3 83348 3.59937E-5 41674 0 1.64739E-5
1-21902404-C-G p.Gly38Gly synonymous ALPL 4 83294 4.80227E-5 41647 0 3.29478E-5
1-21902411-A-G p.Ile41Val missense ALPL 2 83280 2.40154E-5 41640 0 1.98845E-5
1-21902420-AG-A c.127+4delG splice_region ALPL 1 83224 1.20158E-5 41612 0 3.97716E-6
1-21903015-G-A p.Gly43Asp missense+splice_region ALPL 1 83068 1.20383E-5 41534 0 3.97779E-6
1-21903020-G-T p.Ala45Ser missense ALPL 1 83074 1.20375E-5 41537 0 NA
1-21903022-C-T p.Ala45Ala synonymous ALPL 5 83080 6.0183E-5 41540 0 3.57984E-5
1-21903025-C-A p.Pro46Pro synonymous ALPL 2 83076 2.40743E-5 41538 1 NA
1-21903027-T-A p.Met47Lys missense ALPL 2 83082 2.40726E-5 41541 0 NA
1-21903028-GC-G p.Leu48fs frameshift ALPL 1 83074 1.20375E-5 41537 0 NA
1-21903060-C-A p.Ala58Asp missense ALPL 1 82612 1.21048E-5 41306 0 NA
1-21903070-T-C p.Tyr61Tyr synonymous ALPL 1 82390 1.21374E-5 41195 0 6.76068E-5
1-21903075-A-G p.Asn63Ser missense ALPL 1 82258 1.21569E-5 41129 0 9.57977E-5
1-21903088-C-T p.Tyr67Tyr synonymous ALPL 1 81538 1.22642E-5 40769 0 3.97719E-6
1-21903090-A-G p.Lys68Arg missense ALPL 1 81468 1.22748E-5 40734 0 NA
1-21903099-G-A p.Gly71Asp missense ALPL 3 80728 3.71618E-5 40364 0 8.23873E-6
1-21903100-C-T p.Gly71Gly synonymous ALPL 1 80534 1.24171E-5 40267 0 1.19337E-5
1-21903103-T-C p.Gly72Gly synonymous ALPL 1 80352 1.24452E-5 40176 0 NA
1-21903108-G-C p.Arg74Pro missense ALPL 1 79672 1.25515E-5 39836 0 NA
1-21903121-C-G p.Ser78Ser synonymous ALPL 1 78726 1.27023E-5 39363 0 NA
1-21903871-C-T c.248-5C>T splice_region ALPL 1 78892 1.26756E-5 39446 0 8.55857E-6
1-21903876-C-T p.Ala83Val missense+splice_region ALPL 1 78956 1.26653E-5 39478 0 8.14611E-6
1-21903882-A-G p.Asn85Ser missense ALPL 1 79090 1.26438E-5 39545 0 4.06981E-6
1-21903897-A-G p.Gln90Arg missense ALPL 1 79390 1.2596E-5 39695 0 NA
1-21903897-A-C p.Gln90Pro missense ALPL 1 79390 1.2596E-5 39695 0 NA
1-21903914-C-T p.Arg96Cys missense ALPL 1 79956 1.25069E-5 39978 0 1.62557E-5
1-21903914-C-A p.Arg96Ser missense ALPL 1 79956 1.25069E-5 39978 0 NA
1-21903915-G-A p.Arg96His missense ALPL 4 79988 5.00075E-5 39994 0 8.53199E-5
1-21903917-C-T p.His97Tyr missense ALPL 1 80168 1.24738E-5 40084 0 8.53694E-6
1-21903919-C-T p.His97His synonymous ALPL 2 80248 2.49227E-5 40124 0 4.2665E-5
1-21903926-C-T p.His100Tyr missense ALPL 1 80482 1.24251E-5 40241 0 NA
1-21903928-C-T p.His100His synonymous ALPL 1 80532 1.24174E-5 40266 0 2.44698E-5
1-21903929-G-A p.Gly101Ser missense ALPL 5 80524 6.20933E-5 40262 0 4.48763E-5
1-21903931-C-T p.Gly101Gly synonymous ALPL 2 80572 2.48225E-5 40286 0 0.00151057
1-21903940-C-T p.Asp104Asp synonymous ALPL 1 80272 1.24576E-5 40136 0 1.70972E-5
1-21903946-C-T p.Ala106Ala synonymous ALPL 15 80842 1.85547E-4 40421 0 7.68889E-5
1-21903947-G-A p.Val107Ile missense ALPL 273 80936 0.00337304 40468 0 0.00835672
1-21903966-T-C p.Met113Thr missense ALPL 1 81928 1.22058E-5 40964 0 8.53053E-6
1-21903970-G-A p.Ala114Ala synonymous ALPL 4 81950 4.88102E-5 40975 0 5.11718E-5
1-21903985-C-T p.Gly119Gly synonymous ALPL 1 82158 1.21717E-5 41079 0 1.44863E-4
1-21903986-G-A p.Val120Ile missense ALPL 3 82210 3.64919E-5 41105 0 3.18837E-5
1-21903991-C-T p.His121His synonymous ALPL 6 82306 7.28987E-5 41153 1 2.8613E-5
1-21903992-G-A p.Glu122Lys missense ALPL 1 82314 1.21486E-5 41157 0 NA
1-21904003-C-T p.Tyr125Tyr synonymous ALPL 2 82298 2.43019E-5 41149 0 3.40925E-5
1-21904012-C-T p.His128His synonymous ALPL 1 82198 1.21657E-5 41099 0 3.41361E-5
1-21904018-G-A p.Met130Ile missense ALPL 1 82144 1.21737E-5 41072 0 NA
1-21904020-C-T p.Ala131Val missense ALPL 1 82080 1.21832E-5 41040 0 NA
1-21904021-G-A p.Ala131Ala synonymous ALPL 1 82078 1.21835E-5 41039 0 1.19697E-4
1-21904030-C-T p.Ala134Ala synonymous ALPL 2 81938 2.44087E-5 40969 0 1.11567E-4
1-21904036-CG-C p.Ala138fs frameshift ALPL 1 81852 1.22172E-5 40926 0 4.1388E-6
1-21904036-C-T p.Ile136Ile synonymous ALPL 6 81852 7.3303E-5 40926 0 4.30878E-5
1-21904037-G-A p.Gly137Arg missense ALPL 3 81866 3.66452E-5 40933 0 8.27527E-6
1-21904045-C-T p.Asn139Asn synonymous ALPL 7 81722 8.56562E-5 40861 1 3.18837E-5
1-21904046-C-G p.Leu140Val missense ALPL 1 81722 1.22366E-5 40861 0 NA
1-21904047-T-A p.Leu140His missense ALPL 1 81672 1.22441E-5 40836 0 NA
1-21904048-C-T p.Leu140Leu synonymous ALPL 26 81682 3.18308E-4 40841 0 7.33746E-4
1-21904049-G-A p.Gly141Ser missense ALPL 1 81656 1.22465E-5 40828 0 2.08108E-5
1-21904071-C-T p.Ser148Leu missense ALPL 11 81390 1.35152E-4 40695 0 5.04032E-4
1-21904072-G-A p.Ser148Ser synonymous ALPL 1 81320 1.22971E-5 40660 0 8.40033E-5
1-21904073-G-A p.Ala149Thr missense ALPL 1 81318 1.22974E-5 40659 0 NA
1-21904076-G-A p.Gly150Ser missense ALPL 3 81250 3.69231E-5 40625 0 NA
1-21904081-C-A p.Ser151Arg missense ALPL 3 81148 3.69695E-5 40574 0 1.26437E-5
1-21904086-C-T p.Ala153Val missense ALPL 1 81078 1.23338E-5 40539 0 3.18817E-5
1-21904092-G-T p.Gly155Val missense ALPL 1 80922 1.23576E-5 40461 0 NA
1-21904105-C-T p.Leu159Leu synonymous ALPL 1 80602 1.24066E-5 40301 0 2.13653E-5
1-21904106-G-A p.Ala160Thr missense ALPL 13 80532 1.61427E-4 40266 1 0.0020202
1-21904107-C-T p.Ala160Val missense ALPL 1 80516 1.24199E-5 40258 0 9.5645E-5
1-21904108-G-T p.Ala160Ala synonymous ALPL 669 80430 0.00831779 40215 3 0.0125
1-21904108-G-A p.Ala160Ala synonymous ALPL 7 80454 8.70062E-5 40227 0 1.25253E-4
1-21904120-C-T p.Tyr164Tyr synonymous ALPL 2 80274 2.49147E-5 40137 0 3.18674E-5
1-21904123-C-A p.Pro165Pro synonymous ALPL 4 80240 4.98504E-5 40120 0 3.18593E-5
1-21904123-C-G p.Pro165Pro synonymous ALPL 3 80240 3.73878E-5 40120 0 9.55779E-5
1-21904128-G-A p.Ser167Asn missense ALPL 1 80054 1.24916E-5 40027 0 2.06774E-5
1-21904129-C-G p.Ser167Arg missense ALPL 1 80040 1.24938E-5 40020 0 3.18735E-5
1-21904130-G-A p.Val168Ile missense ALPL 3 79990 3.75047E-5 39995 0 9.55962E-5
1-21904131-T-C p.Val168Ala missense ALPL 7252 79506 0.0912132 39753 343 0.110696
1-21904139-TG-T p.Ter171fs frameshift ALPL 32 79908 4.00461E-4 39954 0 5.05051E-4
1-21904503-G-A c.*362G>A splice_region ALPL 7 49826 1.40489E-4 24913 0 3.18492E-5
1-21904890-A-C c.*749A>C splice_region ALPL 46 44164 0.00104157 22082 0 0.00216519