Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-8975121-C-G c.-127C>G 5_prime_UTR_premature_start_codon_gain A2ML1 1 69132 1.44651E-5 34566 0 NA
12-8975125-G-T c.-123G>T 5_prime_UTR_premature_start_codon_gain A2ML1 1 69942 1.42976E-5 34971 0 NA
12-8975161-C-T c.-87C>T 5_prime_UTR_premature_start_codon_gain A2ML1 1 78924 1.26704E-5 39462 0 NA
12-8975187-A-G c.-61A>G 5_prime_UTR_premature_start_codon_gain A2ML1 6 81918 7.3244E-5 40959 0 9.55171E-5
12-8975196-C-T c.-52C>T 5_prime_UTR_premature_start_codon_gain A2ML1 5 82608 6.05268E-5 41304 0 NA
12-8975231-C-A c.-17C>A 5_prime_UTR_premature_start_codon_gain A2ML1 4 83282 4.80296E-5 41641 0 NA
12-8975253-G-A p.Trp2* stop_gained A2ML1 1 83312 1.20031E-5 41656 0 NA
12-8975255-C-T p.Ala3Val missense A2ML1 1 83320 1.20019E-5 41660 0 NA
12-8975256-T-A p.Ala3Ala synonymous A2ML1 51 83322 6.12083E-4 41661 0 0.00140083
12-8975268-A-G p.Leu7Leu synonymous A2ML1 7 83324 8.40094E-5 41662 0 5.20934E-5
12-8975273-T-C p.Met9Thr missense A2ML1 1 83314 1.20028E-5 41657 0 3.31219E-5
12-8975299-G-A p.Glu18Lys missense A2ML1 1 83292 1.2006E-5 41646 0 NA
12-8975308-C-G p.Pro21Ala missense+splice_region A2ML1 4 83248 4.80492E-5 41624 0 1.2022E-4
12-8975310-G-A c.62+1G>A splice_donor A2ML1 10 83242 1.20132E-4 41621 0 3.31246E-5
12-8975310-G-C c.62+1G>C splice_donor A2ML1 1 83242 1.20132E-5 41621 0 8.28116E-6
12-8975774-A-G c.63-4A>G splice_region A2ML1 70 83306 8.40276E-4 41653 0 0.00125
12-8975782-T-C p.Tyr23His missense A2ML1 1 83326 1.20011E-5 41663 0 NA
12-8975783-A-G p.Tyr23Cys missense A2ML1 9 83324 1.08012E-4 41662 0 2.23015E-4
12-8975785-C-A p.Leu24Met missense A2ML1 1 83322 1.20016E-5 41661 0 NA
12-8975786-T-A p.Leu24Gln missense A2ML1 4 83324 4.80054E-5 41662 0 3.18471E-5
12-8975788-G-A p.Val25Met missense A2ML1 2 83330 2.4001E-5 41665 0 4.02317E-5
12-8975789-T-C p.Val25Ala missense A2ML1 1 83330 1.20005E-5 41665 0 NA
12-8975801-C-A p.Ala29Asp missense A2ML1 18 83350 2.15957E-4 41675 0 3.50274E-4
12-8975803-C-G p.Arg30Gly missense A2ML1 1 83348 1.19979E-5 41674 0 1.66041E-5
12-8975803-C-T p.Arg30Trp missense A2ML1 1 83348 1.19979E-5 41674 0 1.60632E-5
12-8975804-G-A p.Arg30Gln missense A2ML1 15 83350 1.79964E-4 41675 0 7.46925E-5
12-8975814-C-T p.Phe33Phe synonymous A2ML1 1 83350 1.19976E-5 41675 0 5.03525E-4
12-8975820-C-T p.Ser35Ser synonymous A2ML1 41 83350 4.91902E-4 41675 0 8.91777E-4
12-8975824-CAGA-C p.Lys38del conservative_inframe_deletion A2ML1 3 83356 3.59902E-5 41678 0 3.18512E-5
12-8975830-G-A p.Val39Ile missense A2ML1 1 83362 1.19959E-5 41681 0 8.01706E-6
12-8975833-T-G p.Cys40Gly missense A2ML1 1 83362 1.19959E-5 41681 0 5.61167E-5
12-8975838-G-C p.Leu41Phe missense A2ML1 2 83364 2.39912E-5 41682 0 NA
12-8975842-C-G p.Leu43Val missense A2ML1 2 83364 2.39912E-5 41682 0 8.015E-6
12-8975844-G-C p.Leu43Leu synonymous A2ML1 2 83366 2.39906E-5 41683 0 4.00728E-6
12-8975844-G-A p.Leu43Leu synonymous A2ML1 1 83366 1.19953E-5 41683 0 NA
12-8975852-G-A p.Gly46Glu missense A2ML1 6 83370 7.19683E-5 41685 0 1.27437E-4
12-8975854-T-C p.Tyr47His missense A2ML1 4 83368 4.798E-5 41684 0 3.31252E-5
12-8975863-G-A p.Val50Ile missense A2ML1 1 83362 1.19959E-5 41681 0 NA
12-8975873-C-G p.Thr53Arg missense A2ML1 199 83358 0.00238729 41679 0 0.0023765
12-8975873-C-T p.Thr53Met missense A2ML1 4 83358 4.79858E-5 41679 0 4.96829E-5
12-8975874-G-A p.Thr53Thr synonymous A2ML1 2 83358 2.39929E-5 41679 0 5.03525E-4
12-8975888-C-CCA p.Lys59fs frameshift A2ML1 13 83346 1.55976E-4 41673 0 4.77859E-4
12-8975898-G-A p.Lys61Lys synonymous A2ML1 1 83340 1.1999E-5 41670 0 4.00712E-6
12-8975901-C-T p.Thr62Thr synonymous A2ML1 4624 83268 0.0555315 41634 197 0.11625
12-8975905-A-G p.Lys64Glu missense A2ML1 1 83336 1.19996E-5 41668 0 8.01436E-6
12-8975911-C-T p.Leu66Leu synonymous A2ML1 245 83334 0.00293998 41667 0 0.0175
12-8975915-A-T p.Glu67Val missense A2ML1 145 83338 0.0017399 41669 0 0.00361082
12-8975916-A-G p.Glu67Glu synonymous A2ML1 1 83340 1.1999E-5 41670 0 2.48591E-5
12-8975931-G-A p.Lys72Lys synonymous A2ML1 2 83318 2.40044E-5 41659 0 7.62183E-5
12-8975936-G-C p.Arg74Thr missense A2ML1 8 83320 9.60154E-5 41660 0 2.54858E-4
12-8975944-C-T p.His77Tyr missense A2ML1 5 83308 6.00182E-5 41654 0 NA
12-8975945-A-G p.His77Arg missense A2ML1 1 83310 1.20034E-5 41655 0 NA
12-8975948-G-T p.Cys78Phe missense A2ML1 1 83296 1.20054E-5 41648 0 6.37064E-5
12-8975966-GCA-G c.246+6_246+7delCA splice_region A2ML1 7 83244 8.40901E-5 41622 0 5.41746E-4
12-8976176-G-A n.68G>A splice_region A2ML1 6 76622 7.83065E-5 38311 0 1.2751E-4
12-8976320-C-T p.Pro84Leu missense A2ML1 1 83316 1.20025E-5 41658 0 3.18492E-5
12-8976325-C-T p.Pro86Ser missense A2ML1 4 83316 4.801E-5 41658 0 7.56137E-5
12-8976326-C-T p.Pro86Leu missense A2ML1 2 83318 2.40044E-5 41659 0 8.39588E-6
12-8976338-CAGA-C p.Glu92del disruptive_inframe_deletion A2ML1 8 83336 9.59969E-5 41668 0 2.49942E-5
12-8976340-G-A p.Glu91Lys missense A2ML1 4 83342 4.7995E-5 41671 0 6.36821E-5
12-8976346-G-T p.Val93Leu missense A2ML1 7 83346 8.39872E-5 41673 0 1.36285E-4
12-8976348-G-T p.Val93Val synonymous A2ML1 6 83352 7.19839E-5 41676 0 4.0084E-6
12-8976358-C-G p.Arg97Gly missense A2ML1 98 83340 0.00117591 41670 0 0.00127445
12-8976358-C-T p.Arg97Trp missense A2ML1 8 83340 9.59923E-5 41670 0 4.40882E-5
12-8976359-G-T p.Arg97Leu missense A2ML1 1 83344 1.19985E-5 41672 0 NA
12-8976363-G-T p.Val98Val synonymous A2ML1 1 83350 1.19976E-5 41675 0 4.0076E-6
12-8976364-T-C p.Ser99Pro missense A2ML1 1 83348 1.19979E-5 41674 0 NA
12-8976365-C-T p.Ser99Leu missense A2ML1 1 83348 1.19979E-5 41674 0 2.00396E-5
12-8976366-G-A p.Ser99Ser synonymous A2ML1 2 83348 2.39958E-5 41674 0 2.40464E-5
12-8976367-G-A p.Gly100Arg missense A2ML1 1 83350 1.19976E-5 41675 0 4.80904E-5
12-8976378-T-A p.Asn103Lys missense A2ML1 1 83346 1.19982E-5 41673 0 3.20582E-5
12-8976390-TGAG-T p.Glu109del conservative_inframe_deletion A2ML1 2 83350 2.39952E-5 41675 0 3.18715E-5
12-8976404-A-G p.Lys112Arg missense A2ML1 2 83352 2.39946E-5 41676 0 3.60638E-5
12-8976426-G-C p.Gly119Gly synonymous A2ML1 60 83322 7.20098E-4 41661 0 0.00302115
12-8976429-C-CG p.Thr122fs frameshift A2ML1 1 83320 1.20019E-5 41660 0 NA
12-8976443-A-G p.Gln125Arg missense A2ML1 1 83292 1.2006E-5 41646 0 3.1837E-5
12-8976444-G-T p.Gln125His missense A2ML1 2 83290 2.40125E-5 41645 0 4.16764E-5
12-8976459-C-T p.Leu130Leu synonymous A2ML1 2 83254 2.40229E-5 41627 0 6.25E-4
12-8976474-GC-G p.Gln136fs frameshift A2ML1 1 83110 1.20322E-5 41555 0 NA
12-8976478-G-A p.Val137Met missense+splice_region A2ML1 1 83122 1.20305E-5 41561 0 NA
12-8976481-A-G c.409+3A>G splice_region A2ML1 1 83090 1.20351E-5 41545 0 8.5176E-6
12-8976484-A-G c.409+6A>G splice_region A2ML1 1 83082 1.20363E-5 41541 0 4.07641E-6
12-8982323-TG-T p.Tyr138fs frameshift A2ML1 1 82596 1.21071E-5 41298 0 NA
12-8982329-TC-T p.Arg140fs frameshift A2ML1 1 82650 1.20992E-5 41325 0 NA
12-8982331-C-T p.Arg140Cys missense A2ML1 4 82642 4.84015E-5 41321 0 1.32505E-4
12-8982332-G-A p.Arg140His missense A2ML1 3 82634 3.63047E-5 41317 0 2.48447E-5
12-8982343-A-G p.Met144Val missense A2ML1 1 82692 1.20931E-5 41346 0 NA
12-8982351-C-CA p.Asn147fs frameshift A2ML1 2 82712 2.41803E-5 41356 0 3.19183E-5
12-8982381-T-C c.462+6T>C splice_region A2ML1 1 82650 1.20992E-5 41325 0 NA
12-8982383-G-A c.462+8G>A splice_region A2ML1 1 82664 1.20972E-5 41332 0 6.37024E-5
12-8987265-T-C p.Met157Thr missense A2ML1 1 83240 1.20135E-5 41620 0 4.1414E-5
12-8987284-C-T c.483+6C>T splice_region A2ML1 4 83196 4.80792E-5 41598 0 1.57386E-4
12-8987285-G-A c.483+7G>A splice_region A2ML1 481 83180 0.00578264 41590 6 0.00694157
12-8988113-GC-TT p.Ser165Ile missense A2ML1 2 83150 2.40529E-5 41575 0 NA
12-8988127-C-T p.Gln170* stop_gained A2ML1 1 83214 1.20172E-5 41607 0 NA
12-8988132-G-A p.Trp171* stop_gained A2ML1 4 83222 4.80642E-5 41611 0 NA
12-8988147-T-C p.Pro176Pro synonymous A2ML1 8 83280 9.60615E-5 41640 0 0.00151057
12-8988150-G-A p.Glu177Glu synonymous A2ML1 1 83276 1.20083E-5 41638 0 4.00744E-6
12-8988156-C-T p.Gly179Gly synonymous A2ML1 1 83306 1.20039E-5 41653 0 NA
12-8988158-T-C p.Ile180Thr missense A2ML1 1 83312 1.20031E-5 41656 0 1.20216E-5
12-8988184-C-T p.Pro189Ser missense A2ML1 9 83338 1.07994E-4 41669 0 1.91131E-4
12-8988204-C-G p.Thr195Thr synonymous A2ML1 1 83358 1.19964E-5 41679 0 8.28034E-6
12-8988209-C-T p.Thr197Ile missense A2ML1 312 83340 0.0037437 41670 2 0.00907932
12-8988214-G-T p.Ala199Ser missense A2ML1 1 83352 1.19973E-5 41676 0 NA
12-8988238-G-C p.Gly207Arg missense A2ML1 925 83298 0.0111047 41649 23 0.0247626
12-8988238-G-T p.Gly207Cys missense A2ML1 28 83320 3.36054E-4 41660 0 4.46172E-4
12-8988240-T-C p.Gly207Gly synonymous A2ML1 347 83312 0.00416507 41656 2 0.0120968
12-8988252-G-A p.Val211Val synonymous A2ML1 170 83282 0.00204126 41641 0 0.00471548
12-8988256-G-A p.Glu213Lys missense A2ML1 1 83286 1.20068E-5 41643 0 1.20418E-5
12-8988258-A-G p.Glu213Glu synonymous A2ML1 1 83266 1.20097E-5 41633 0 NA
12-8988259-T-A p.Tyr214Asn missense A2ML1 3 83262 3.60308E-5 41631 0 NA
12-8988267-G-A c.643+5G>A splice_region A2ML1 1 83174 1.2023E-5 41587 0 4.01713E-6
12-8988270-G-A c.643+8G>A splice_region A2ML1 1 83162 1.20247E-5 41581 0 NA
12-8988846-T-C c.644-5T>C splice_region A2ML1 7 83084 8.42521E-5 41542 0 2.49107E-5
12-8988850-G-A c.644-1G>A splice_acceptor A2ML1 1 83108 1.20325E-5 41554 0 8.29848E-6
12-8988855-G-A p.Leu216Leu synonymous A2ML1 1 83132 1.20291E-5 41566 0 NA
12-8988857-C-T p.Pro217Leu missense A2ML1 4 83124 4.81209E-5 41562 0 1.65843E-5
12-8988858-G-A p.Pro217Pro synonymous A2ML1 3 83134 3.60863E-5 41567 0 2.48731E-5
12-8988860-A-G p.Lys218Arg missense A2ML1 5 83138 6.0141E-5 41569 0 2.00367E-5
12-8988884-C-T p.Pro226Leu missense A2ML1 2 83184 2.40431E-5 41592 0 NA
12-8988884-C-G p.Pro226Arg missense A2ML1 1 83184 1.20215E-5 41592 0 NA
12-8988886-A-G p.Lys227Glu missense A2ML1 1 83180 1.20221E-5 41590 0 8.28693E-6
12-8988887-A-G p.Lys227Arg missense A2ML1 1 83184 1.20215E-5 41592 0 2.48612E-5
12-8988888-G-A p.Lys227Lys synonymous A2ML1 4 83182 4.80873E-5 41591 0 5.03525E-4
12-8988900-G-A p.Thr231Thr synonymous A2ML1 15 83180 1.80332E-4 41590 0 1.27486E-4
12-8988904-C-G p.Gln233Glu missense A2ML1 1 83164 1.20244E-5 41582 0 NA
12-8988908-A-G p.Glu234Gly missense A2ML1 3 83158 3.60759E-5 41579 0 4.00718E-6
12-8988919-G-A p.Val238Ile missense A2ML1 6 83124 7.21813E-5 41562 0 4.14277E-4
12-8988931-T-C p.Cys242Arg missense A2ML1 1 83072 1.20378E-5 41536 0 1.68396E-5
12-8988943-C-T c.728+8C>T splice_region A2ML1 1 82972 1.20523E-5 41486 0 1.72236E-5
12-8990028-T-C c.729-8T>C splice_region A2ML1 1 83366 1.19953E-5 41683 0 1.20227E-5
12-8990038-A-G p.Tyr244Cys missense+splice_region A2ML1 1 83360 1.19962E-5 41680 0 8.28075E-6
12-8990044-A-G p.Tyr246Cys missense A2ML1 1 83364 1.19956E-5 41682 0 NA
12-8990059-TA-T p.Ala253fs frameshift A2ML1 1 83368 1.1995E-5 41684 0 NA
12-8990063-G-A p.Gly252Gly synonymous A2ML1 2 83364 2.39912E-5 41682 0 8.28034E-6
12-8990067-G-T p.Val254Leu missense A2ML1 1 83368 1.1995E-5 41684 0 NA
12-8990077-CTG-C p.Cys259fs frameshift A2ML1 1 83370 1.19947E-5 41685 0 NA
12-8990080-T-C p.Val258Ala missense A2ML1 2 83368 2.399E-5 41684 0 8.28075E-6
12-8990098-C-T p.Thr264Ile missense A2ML1 6 83378 7.19614E-5 41689 0 4.00689E-6
12-8990105-G-A p.Trp266* stop_gained A2ML1 1 83382 1.1993E-5 41691 0 6.25E-4
12-8990109-C-T p.Arg268* stop_gained A2ML1 1 83376 1.19939E-5 41688 0 8.28432E-6
12-8990110-G-A p.Arg268Gln missense A2ML1 3 83374 3.59824E-5 41687 0 4.97084E-5
12-8990117-G-A p.Val270Val synonymous A2ML1 2 83368 2.399E-5 41684 0 NA
12-8990121-C-T p.Arg272Trp missense A2ML1 24 83362 2.87901E-4 41681 1 5.03525E-4
12-8990134-C-G p.Pro276Arg missense A2ML1 8 83332 9.60015E-5 41666 0 1.27494E-4
12-8990142-T-C p.Cys279Arg missense A2ML1 1 83324 1.20013E-5 41662 0 NA
12-8990147-G-A p.Arg280Arg synonymous A2ML1 1 83318 1.20022E-5 41659 0 NA
12-8990151-C-A p.Leu282Ile missense A2ML1 3 83310 3.60101E-5 41655 0 6.37714E-5
12-8990163-G-A c.855+1G>A splice_donor A2ML1 2 83268 2.40188E-5 41634 0 1.66522E-5
12-8990930-A-G c.856-2A>G splice_acceptor A2ML1 1 83290 1.20062E-5 41645 0 8.31117E-6
12-8990937-C-A p.Asp287Glu missense A2ML1 860 83296 0.0103246 41648 8 0.00769639
12-8990937-C-T p.Asp287Asp synonymous A2ML1 6 83314 7.20167E-5 41657 0 1.91034E-4
12-8990938-A-T p.Lys288* stop_gained A2ML1 1 83322 1.20016E-5 41661 0 NA
12-8990939-A-G p.Lys288Arg missense A2ML1 83 83328 9.96064E-4 41664 2 0.00219787
12-8990957-C-T p.Ala294Val missense A2ML1 5 83356 5.99837E-5 41678 0 1.65747E-5
12-8990963-T-C p.Val296Ala missense A2ML1 19 83362 2.27922E-4 41681 0 7.87088E-4
12-8990978-T-C p.Phe301Ser missense A2ML1 1 83384 1.19927E-5 41692 0 4.01004E-6
12-8990980-G-A p.Asp302Asn missense A2ML1 3 83382 3.5979E-5 41691 0 8.28308E-6
12-8990987-T-C p.Ile304Thr missense A2ML1 34 83374 4.07801E-4 41687 0 9.55597E-5
12-8990989-G-A p.Gly305Arg missense A2ML1 3 83386 3.59773E-5 41693 0 4.1414E-5
12-8990996-C-A p.Ala307Glu missense A2ML1 1 83374 1.19941E-5 41687 0 NA
12-8990996-C-T p.Ala307Val missense A2ML1 1 83374 1.19941E-5 41687 0 8.41994E-5
12-8990997-G-A p.Ala307Ala synonymous A2ML1 3 83374 3.59824E-5 41687 0 6.37105E-5
12-8991018-T-C p.Ile314Ile synonymous A2ML1 1 83350 1.19976E-5 41675 0 3.18613E-5
12-8991028-G-A p.Val318Ile missense A2ML1 1 83332 1.20002E-5 41666 0 NA
12-8991032-T-G p.Val319Gly missense A2ML1 2 83316 2.4005E-5 41658 0 5.04032E-4
12-8991040-G-A p.Gly322Arg missense A2ML1 2 83292 2.40119E-5 41646 0 3.18492E-5
12-8991045-AG-A p.Glu320fs frameshift A2ML1 1 83276 1.20083E-5 41638 0 NA
12-8991050-A-G c.970+4A>G splice_region A2ML1 1 83260 1.20106E-5 41630 0 8.30855E-6
12-8991051-G-T c.970+5G>T splice_region A2ML1 1 83250 1.2012E-5 41625 0 NA
12-8991706-C-T c.971-3C>T splice_region A2ML1 6 82822 7.24445E-5 41411 0 1.71377E-5
12-8991710-T-G p.Gly324Gly splice_region+synonymous A2ML1 3 82872 3.62004E-5 41436 0 3.63009E-5
12-8991713-G-A p.Val325Val synonymous A2ML1 1 82910 1.20613E-5 41455 0 4.03167E-6
12-8991714-G-T p.Glu326* stop_gained A2ML1 1 82924 1.20592E-5 41462 0 1.61294E-5
12-8991716-G-A p.Glu326Glu synonymous A2ML1 3 82970 3.61576E-5 41485 0 1.20594E-5
12-8991721-A-G p.Asn328Ser missense A2ML1 4 83010 4.8187E-5 41505 0 3.18918E-5
12-8991723-G-GC p.Thr330fs frameshift A2ML1 1 83040 1.20424E-5 41520 0 NA
12-8991726-A-C p.Thr330Pro missense A2ML1 1 83050 1.20409E-5 41525 0 NA
12-8991741-AT-A p.Ser336fs frameshift A2ML1 3 83156 3.60768E-5 41578 0 8.30744E-6
12-8991743-T-G p.Ile335Met missense A2ML1 2 83160 2.405E-5 41580 0 NA
12-8991747-C-A p.Pro337Thr missense A2ML1 1 83176 1.20227E-5 41588 0 4.00892E-6
12-8991759-T-A p.Ser341Thr missense A2ML1 1 83172 1.20233E-5 41586 0 4.00843E-6
12-8991766-C-T p.Thr343Ile missense A2ML1 2 83164 2.40489E-5 41582 0 8.29531E-6
12-8991779-C-T p.Thr347Thr synonymous A2ML1 5 83150 6.01323E-5 41575 0 6.25E-4
12-8991782-C-A p.Ser348Arg missense A2ML1 1 83142 1.20276E-5 41571 0 NA
12-8991785-T-C p.Asn349Asn synonymous A2ML1 1 83126 1.20299E-5 41563 0 NA
12-8991788-T-C p.Phe350Phe synonymous A2ML1 86 83122 0.00103462 41561 0 0.00359964
12-8991795-C-T p.Pro353Ser missense A2ML1 1 83108 1.20325E-5 41554 0 NA
12-8991804-C-T p.Pro356Ser missense A2ML1 6 83066 7.22317E-5 41533 0 9.55657E-5
12-8991812-T-G p.Ser358Arg missense A2ML1 1 83024 1.20447E-5 41512 0 NA
12-8991822-T-C c.1080+4T>C splice_region A2ML1 1 82898 1.2063E-5 41449 0 NA
12-8993963-A-G c.1081-2A>G splice_acceptor A2ML1 2 83316 2.4005E-5 41658 0 2.49854E-5
12-8993964-G-T c.1081-1G>T splice_acceptor A2ML1 3 83320 3.60058E-5 41660 0 7.63481E-5
12-8993965-A-G p.Ile361Val missense+splice_region A2ML1 2 83318 2.40044E-5 41659 0 6.36902E-5
12-8993975-G-A p.Arg364Lys missense A2ML1 4 83336 4.79985E-5 41668 0 3.20788E-5
12-8993978-G-A p.Gly365Asp missense A2ML1 1 83338 1.19993E-5 41669 0 NA
12-8993985-T-C p.Asp367Asp synonymous A2ML1 929 83316 0.0111503 41658 25 0.0249984
12-8993993-T-C p.Phe370Ser missense A2ML1 931 83320 0.0111738 41660 26 0.0250096
12-8994005-A-G p.His374Arg missense A2ML1 3 83344 3.59954E-5 41672 0 4.00731E-6
12-8994012-G-A p.Val376Val synonymous A2ML1 2 83340 2.39981E-5 41670 0 NA
12-8994021-G-A p.Val379Val synonymous A2ML1 1 83342 1.19988E-5 41671 0 3.18512E-5
12-8994026-A-G p.Tyr381Cys missense A2ML1 1 83342 1.19988E-5 41671 0 3.18654E-5
12-8994038-G-T p.Gly385Val missense A2ML1 1 83352 1.19973E-5 41676 0 3.18613E-5
12-8994047-A-C p.Asn388Thr missense A2ML1 2 83344 2.39969E-5 41672 0 6.37186E-5
12-8994056-T-C p.Leu391Pro missense A2ML1 1 83338 1.19993E-5 41669 0 NA
12-8994057-G-A p.Leu391Leu synonymous A2ML1 1 83340 1.1999E-5 41670 0 4.00702E-6
12-8994059-T-C p.Val392Ala missense A2ML1 2 83338 2.39987E-5 41669 0 1.65618E-5
12-8994063-T-C p.Thr393Thr synonymous A2ML1 1 83332 1.20002E-5 41666 0 3.18492E-5
12-8994066-T-C p.Asp394Asp synonymous A2ML1 2 83332 2.40004E-5 41666 0 3.18471E-5
12-8994070-A-G p.Asn396Asp missense A2ML1 1 83332 1.20002E-5 41666 0 4.00699E-6
12-8994085-T-C p.Phe401Leu missense A2ML1 2 83320 2.40038E-5 41660 0 8.28102E-6
12-8994095-A-G p.Glu404Gly missense A2ML1 1 83320 1.20019E-5 41660 0 NA
12-8994100-T-C p.Ser406Pro missense A2ML1 1 83312 1.20031E-5 41656 0 8.28212E-6
12-8994102-C-T p.Ser406Ser synonymous A2ML1 3 83308 3.60109E-5 41654 0 6.41519E-5
12-8994105-T-C p.Gly407Gly synonymous A2ML1 1 83302 1.20045E-5 41651 0 4.0085E-6
12-8994108-G-C p.Trp408Cys missense A2ML1 1 83304 1.20042E-5 41652 0 2.48538E-5
12-8994115-A-C p.Thr411Pro missense A2ML1 1 83296 1.20054E-5 41648 0 1.65733E-5
12-8994118-G-T p.Asp412Tyr missense A2ML1 1 83286 1.20068E-5 41643 0 6.37024E-5
12-8994120-C-T p.Asp412Asp synonymous A2ML1 6 83284 7.20426E-5 41642 0 7.65518E-5
12-8994121-G-A p.Val413Ile missense A2ML1 40 83280 4.80307E-4 41640 0 6.25E-4
12-8994122-T-A p.Val413Asp missense A2ML1 1 83272 1.20088E-5 41636 0 6.37511E-5
12-8995728-A-C c.1249-2A>C splice_acceptor A2ML1 1 83082 1.20363E-5 41541 0 NA
12-8995745-G-C p.Glu422Gln missense A2ML1 7 83268 8.40659E-5 41634 0 NA
12-8995756-A-G p.Val425Val synonymous A2ML1 7276 83074 0.0875846 41537 326 0.0951662
12-8995761-A-G p.Asn427Ser missense A2ML1 6 83336 7.19977E-5 41668 0 5.03525E-4
12-8995764-C-T p.Pro428Leu missense A2ML1 10 83328 1.20008E-4 41664 0 9.11245E-5
12-8995765-G-A p.Pro428Pro synonymous A2ML1 8 83338 9.59946E-5 41669 0 6.37064E-5
12-8995774-G-A p.Val431Val synonymous A2ML1 1 83348 1.19979E-5 41674 0 NA
12-8995778-C-T p.Arg433Cys missense A2ML1 2 83354 2.3994E-5 41677 0 4.00692E-6
12-8995794-C-A p.Ala438Asp missense A2ML1 2 83372 2.39889E-5 41686 0 8.28034E-6
12-8995803-A-C p.His441Pro missense A2ML1 2 83374 2.39883E-5 41687 0 4.00673E-6
12-8995808-C-T p.Arg443* stop_gained A2ML1 11 83368 1.31945E-4 41684 0 7.61273E-5
12-8995808-C-A p.Arg443Arg synonymous A2ML1 1 83368 1.1995E-5 41684 0 NA
12-8995809-G-A p.Arg443Gln missense A2ML1 6 83370 7.19683E-5 41685 0 2.86606E-4
12-8995829-C-T p.Arg450Cys missense A2ML1 1 83376 1.19939E-5 41688 0 1.65607E-5
12-8995849-C-T p.His456His synonymous A2ML1 25 83374 2.99854E-4 41687 0 5.03525E-4
12-8995850-C-T p.Arg457Trp missense A2ML1 1 83376 1.19939E-5 41688 0 6.62449E-5
12-8995851-G-A p.Arg457Gln missense A2ML1 6 83370 7.19683E-5 41685 0 3.1841E-5
12-8995858-C-A p.Asn459Lys missense A2ML1 1 83356 1.19967E-5 41678 0 NA
12-8995858-C-T p.Asn459Asn synonymous A2ML1 2 83356 2.39935E-5 41678 0 6.3678E-5
12-8995868-A-C p.Lys463Gln missense A2ML1 3 83360 3.59885E-5 41680 0 3.18512E-5
12-8995872-G-A p.Cys464Tyr missense A2ML1 1 83358 1.19964E-5 41679 0 NA
12-8995875-G-A p.Gly465Asp missense A2ML1 3 83350 3.59928E-5 41675 0 6.81155E-5
12-8995876-C-T p.Gly465Gly synonymous A2ML1 2 83352 2.39946E-5 41676 0 NA
12-8995898-G-T p.Asp473Tyr missense A2ML1 14 83298 1.68071E-4 41649 0 1.0418E-4
12-8995914-C-T p.Pro478Leu missense A2ML1 10 83168 1.20239E-4 41584 0 1.27632E-4
12-8995915-G-A p.Pro478Pro synonymous A2ML1 1 83166 1.20241E-5 41583 0 9.2563E-4
12-8995917-C-A p.Ala479Asp missense A2ML1 2 83132 2.40581E-5 41566 0 NA
12-8995919-G-A p.Asp480Asn missense A2ML1 2 83128 2.40593E-5 41564 0 2.00451E-5
12-8995921-T-C p.Asp480Asp synonymous A2ML1 5 83126 6.01497E-5 41563 0 6.38081E-5
12-8995924-AAG-A p.Ser482fs frameshift A2ML1 530 83132 0.0063754 41566 10 0.0155165
12-8995924-A-C p.Ala481Ala synonymous A2ML1 1 83132 1.20291E-5 41566 0 1.65747E-5
12-8995946-T-G p.Phe489Val missense A2ML1 1 82962 1.20537E-5 41481 0 1.20345E-5
12-8995952-T-C p.Tyr491His missense A2ML1 1 82962 1.20537E-5 41481 0 4.01281E-6
12-8995958-G-A c.1476+1G>A splice_donor A2ML1 1 82968 1.20528E-5 41484 0 8.36372E-6
12-8995965-C-T c.1476+8C>T splice_region A2ML1 331 82886 0.00399344 41443 1 0.00853829
12-8995965-C-G c.1476+8C>G splice_region A2ML1 23 82902 2.77436E-4 41451 0 7.94818E-4
12-8997550-G-A c.-218G>A 5_prime_UTR_premature_start_codon_gain A2ML1 1 29244 3.4195E-5 14622 0 NA
12-8997555-C-T c.-213C>T 5_prime_UTR_premature_start_codon_gain A2ML1 1 29144 3.43124E-5 14572 0 NA
12-8997570-A-G c.-198A>G 5_prime_UTR_premature_start_codon_gain A2ML1 1 29822 3.35323E-5 14911 0 NA
12-8997626-A-G c.-142A>G 5_prime_UTR_premature_start_codon_gain A2ML1 1 31862 3.13853E-5 15931 0 NA
12-8997695-C-T c.-73C>T 5_prime_UTR_premature_start_codon_gain A2ML1 207 35042 0.0059072 17521 0 0.00633758
12-8997771-G-C c.3+1G>C splice_donor A2ML1 7 51786 1.35172E-4 25893 0 5.24659E-4
12-8997785-C-A p.Phe6Leu missense A2ML1 2 55374 3.6118E-5 27687 0 7.78574E-6
12-8997786-T-A p.Tyr7Asn missense A2ML1 1 55714 1.79488E-5 27857 0 1.91058E-4
12-8997787-A-G p.Tyr7Cys missense A2ML1 13 55954 2.32334E-4 27977 0 3.82141E-4
12-8997791-T-C p.Ala8Ala synonymous A2ML1 2 57252 3.49333E-5 28626 0 1.59205E-4
12-8997799-T-TTA p.Leu12fs frameshift A2ML1 4 59576 6.71411E-5 29788 0 3.18512E-5
12-8997823-T-G p.Leu19Arg missense A2ML1 1 66208 1.51039E-5 33104 0 NA
12-8997825-A-G p.Ser20Gly missense A2ML1 2 66766 2.99554E-5 33383 0 6.37105E-5
12-8997830-G-A p.Gln21Gln synonymous A2ML1 1 68410 1.46177E-5 34205 0 7.46714E-6
12-8997838-A-G p.Asn24Ser missense A2ML1 1 70294 1.4226E-5 35147 0 NA
12-8997841-G-T p.Cys25Phe missense A2ML1 10000 68760 0.145433 34380 514 0.21646
12-8997843-A-T p.Arg26Trp missense A2ML1 1 71382 1.40091E-5 35691 0 NA
12-8997856-AGGACCCG-A p.Gln30fs frameshift A2ML1 3 73944 4.05712E-5 36972 0 1.45917E-5
12-8997856-AG-A p.Asp31fs frameshift A2ML1 2 73944 2.70475E-5 36972 0 7.29586E-6
12-8997862-C-T p.Pro32Leu missense A2ML1 2 74760 2.67523E-5 37380 0 0.00109874
12-8997863-G-A p.Pro32Pro synonymous A2ML1 3 75048 3.99744E-5 37524 0 6.37024E-5
12-8997865-T-C p.Leu33Ser missense A2ML1 2 75326 2.65513E-5 37663 0 1.00402E-4
12-8997899-C-G p.Cys44Trp missense A2ML1 1 79430 1.25897E-5 39715 0 3.18532E-5
12-8997915-C-T c.12+8C>T splice_region A2ML1 2464 80642 0.0305548 40321 136 0.0589191
12-8998031-T-C c.1477-7T>C splice_region A2ML1 1 83280 1.20077E-5 41640 0 8.01918E-6
12-8998035-TA-T c.1477-2delA splice_acceptor A2ML1 1 83282 1.20074E-5 41641 0 8.01828E-6
12-8998038-T-C p.Leu493Leu splice_region+synonymous A2ML1 29 83288 3.48189E-4 41644 1 0.001875
12-8998044-G-A p.Gly495Arg missense A2ML1 2 83306 2.40079E-5 41653 0 NA
12-8998059-G-A p.Val500Met missense A2ML1 2 83306 2.40079E-5 41653 0 NA
12-8998060-T-A p.Val500Glu missense A2ML1 1 83312 1.20031E-5 41656 0 NA
12-8998063-T-G p.Met501Arg missense A2ML1 1 83306 1.20039E-5 41653 0 NA
12-8998070-G-A p.Gly503Gly synonymous A2ML1 1 83318 1.20022E-5 41659 0 NA
12-8998071-C-T p.Gln504* stop_gained A2ML1 1 83322 1.20016E-5 41661 0 NA
12-8998087-C-CCTTA p.Lys510fs frameshift A2ML1 2 83306 2.40079E-5 41653 0 3.18715E-5
12-8998666-C-G c.1538-7C>G splice_region A2ML1 2 83310 2.40067E-5 41655 0 3.18796E-5
12-8998687-TTC-T p.Ser521fs frameshift A2ML1 1 83350 1.19976E-5 41675 0 8.01513E-6
12-8998689-C-G p.Phe518Leu missense A2ML1 1 83348 1.19979E-5 41674 0 8.28048E-6
12-8998704-C-T p.Thr523Thr synonymous A2ML1 1 83362 1.19959E-5 41681 0 NA
12-8998704-C-A p.Thr523Thr synonymous A2ML1 1 83362 1.19959E-5 41681 0 NA
12-8998706-T-A p.Phe524Tyr missense A2ML1 1 83362 1.19959E-5 41681 0 8.2802E-6
12-8998710-T-C p.Thr525Thr synonymous A2ML1 1 83364 1.19956E-5 41682 0 8.2802E-6
12-8998712-C-T p.Ser526Leu missense A2ML1 4 83370 4.79789E-5 41685 0 NA
12-8998715-G-C p.Arg527Thr missense A2ML1 1 83376 1.19939E-5 41688 0 8.2802E-6
12-8998727-A-T p.Asp531Val missense A2ML1 2 83392 2.39831E-5 41696 0 NA
12-8998730-C-T p.Pro532Leu missense A2ML1 11 83394 1.31904E-4 41697 0 4.0067E-5
12-8998737-G-C p.Leu534Leu synonymous A2ML1 12 83396 1.43892E-4 41698 0 2.54842E-4
12-8998768-G-A p.Val545Ile missense A2ML1 1 83390 1.19918E-5 41695 0 NA
12-8998769-T-A p.Val545Asp missense A2ML1 1 83388 1.19921E-5 41694 0 3.18492E-5
12-8998772-T-C p.Val546Ala missense A2ML1 1 83394 1.19913E-5 41697 0 4.0068E-6
12-8998779-C-A p.Asp548Glu missense A2ML1 1 83382 1.1993E-5 41691 0 NA
12-8998786-C-A p.Gln551Lys missense A2ML1 1 83380 1.19933E-5 41690 0 4.0068E-6
12-8998787-A-G p.Gln551Arg missense A2ML1 1 83380 1.19933E-5 41690 0 NA
12-8998798-G-A p.Glu555Lys missense A2ML1 1 83372 1.19944E-5 41686 0 NA
12-8998803-G-A p.Met556Ile missense A2ML1 1 83366 1.19953E-5 41683 0 NA
12-8998804-T-C p.Cys557Arg missense A2ML1 2 83372 2.39889E-5 41686 0 4.00879E-6
12-8998813-A-G p.Asn560Asp missense A2ML1 4 83368 4.798E-5 41684 0 3.1841E-5
12-8998814-A-C p.Asn560Thr missense A2ML1 1 83370 1.19947E-5 41685 0 4.00734E-6
12-8998824-A-G c.1683+6A>G splice_region A2ML1 1 83338 1.19993E-5 41669 0 3.1835E-5
12-8998825-T-C c.1683+7T>C splice_region A2ML1 1 83332 1.20002E-5 41666 0 8.28281E-6
12-9000147-T-G p.Val562Val splice_region+synonymous A2ML1 415 83124 0.00499254 41562 13 0.0100013
12-9000152-T-C p.Leu564Pro missense A2ML1 1 83168 1.20239E-5 41584 0 NA
12-9000164-C-G p.Pro568Arg missense A2ML1 3 83176 3.60681E-5 41588 0 6.26566E-4
12-9000179-C-T p.Pro573Leu missense A2ML1 1 83152 1.20262E-5 41576 0 4.03164E-6
12-9000184-G-T p.Ala575Ser missense A2ML1 1 83174 1.2023E-5 41587 0 NA
12-9000184-G-A p.Ala575Thr missense A2ML1 4 83174 4.8092E-5 41587 0 NA
12-9000196-C-T p.Leu579Leu synonymous A2ML1 3 83172 3.60698E-5 41586 0 NA
12-9000206-A-G p.Gln582Arg missense A2ML1 81 83172 9.73885E-4 41586 0 0.00216781
12-9000207-G-A p.Gln582Gln synonymous A2ML1 6 83176 7.21362E-5 41588 0 6.25E-4
12-9000212-C-T p.Ala584Val missense A2ML1 1 83142 1.20276E-5 41571 0 NA
12-9000230-C-A p.Ala590Glu missense A2ML1 1 83136 1.20285E-5 41568 0 8.29449E-6
12-9000235-CG-C p.Ala593fs frameshift A2ML1 4 83160 4.81E-5 41580 0 2.86917E-4
12-9000235-C-T p.Arg592Trp missense A2ML1 3 83158 3.60759E-5 41579 0 6.37592E-5
12-9000236-G-T p.Arg592Leu missense A2ML1 33 83164 3.96806E-4 41582 0 0.00100705
12-9000236-G-A p.Arg592Gln missense A2ML1 32 83164 3.84782E-4 41582 0 4.66208E-4
12-9000241-G-A p.Val594Met missense A2ML1 15 83182 1.80327E-4 41591 0 4.46172E-4
12-9000243-G-A p.Val594Val synonymous A2ML1 1 83180 1.20221E-5 41590 0 NA
12-9000252-T-C p.Ser597Ser synonymous A2ML1 1 83196 1.20198E-5 41598 0 NA
12-9000289-C-T p.Arg610Cys missense A2ML1 11 83118 1.32342E-4 41559 0 3.18613E-5
12-9000299-G-A c.1833+5G>A splice_region A2ML1 2 83098 2.4068E-5 41549 0 4.16247E-6
12-9001316-G-A p.Val612Ile missense+splice_region A2ML1 1 83210 1.20178E-5 41605 0 4.18403E-6
12-9001337-T-C p.Trp619Arg missense A2ML1 2 83294 2.40113E-5 41647 0 NA
12-9001338-G-C p.Trp619Ser missense A2ML1 26 83292 3.12155E-4 41646 0 0.00100705
12-9001343-G-A p.Gly621Ser missense A2ML1 2 83308 2.40073E-5 41654 0 NA
12-9001349-T-G p.Tyr623Asp missense A2ML1 2 83308 2.40073E-5 41654 0 4.01858E-6
12-9001354-C-A p.Pro624Pro synonymous A2ML1 1 83324 1.20013E-5 41662 0 4.01836E-6
12-9001361-G-A p.Val627Met missense A2ML1 1 83326 1.20011E-5 41663 0 NA
12-9001363-G-T p.Val627Val synonymous A2ML1 2 83330 2.4001E-5 41665 0 8.29641E-6
12-9001368-A-AGTAT p.Asp631fs frameshift A2ML1 9 83340 1.07991E-4 41670 2 9.11985E-5
12-9001384-A-G p.Pro634Pro synonymous A2ML1 2 83334 2.39998E-5 41667 0 NA
12-9001390-TG-T p.Gly637fs frameshift A2ML1 4 83328 4.80031E-5 41664 0 2.00388E-5
12-9001398-G-T p.Trp639Leu missense A2ML1 2 83320 2.40038E-5 41660 0 NA
12-9001408-T-G p.Pro642Pro synonymous A2ML1 1 83292 1.2006E-5 41646 0 NA
12-9001410-A-C p.Gln643Pro missense A2ML1 1 83280 1.20077E-5 41640 0 NA
12-9001419-T-C p.Ile646Thr missense A2ML1 54 83256 6.48602E-4 41628 0 0.00133801
12-9001427-A-G p.Met649Val missense A2ML1 2 83220 2.40327E-5 41610 0 9.56084E-5
12-9001446-G-A p.Ser655Asn missense A2ML1 1 83056 1.20401E-5 41528 0 4.01011E-6
12-9001451-C-G p.Arg657Gly missense A2ML1 7 82970 8.43678E-5 41485 0 8.02105E-6
12-9001451-C-T p.Arg657Cys missense A2ML1 2 82970 2.41051E-5 41485 0 8.02105E-6
12-9001452-G-A p.Arg657His missense A2ML1 8 82928 9.64692E-5 41464 0 1.07677E-4
12-9001470-C-T p.Pro663Leu missense A2ML1 1 82462 1.21268E-5 41231 0 4.01439E-6
12-9001473-C-T p.Ser664Leu missense A2ML1 6 82302 7.29022E-5 41151 0 1.2046E-5
12-9001481-G-C p.Glu667Gln missense A2ML1 2 81828 2.44415E-5 40914 0 4.02143E-6
12-9001488-C-T p.Thr669Met missense A2ML1 4 81130 4.93036E-5 40565 0 5.83518E-5
12-9001489-G-A p.Thr669Thr synonymous A2ML1 1 80924 1.23573E-5 40462 0 3.33411E-5
12-9001490-G-A p.Asp670Asn missense A2ML1 1 80776 1.23799E-5 40388 0 4.04606E-6
12-9001496-T-C p.Phe672Leu missense A2ML1 4 80162 4.9899E-5 40081 0 1.27437E-4
12-9001499-A-T p.Ser673Cys missense A2ML1 1 79724 1.25433E-5 39862 0 NA
12-9001500-G-C p.Ser673Thr missense A2ML1 1 79548 1.2571E-5 39774 0 NA
12-9001508-C-T p.Arg676Trp missense+splice_region A2ML1 51 78124 6.52808E-4 39062 0 0.00252016
12-9001509-G-A p.Arg676Gln missense+splice_region A2ML1 23 77906 2.95228E-4 38953 0 0.00100806
12-9002257-C-T c.2029-8C>T splice_region A2ML1 14 83242 1.68184E-4 41621 0 4.77646E-4
12-9002260-A-C c.2029-5A>C splice_region A2ML1 86 83264 0.00103286 41632 1 0.00187874
12-9002265-G-C p.Asp677His missense+splice_region A2ML1 1 83274 1.20085E-5 41637 0 1.65703E-5
12-9002267-C-T p.Asp677Asp splice_region+synonymous A2ML1 1 83292 1.2006E-5 41646 0 1.65706E-5
12-9002268-G-T p.Val678Leu missense A2ML1 104 83284 0.00124874 41642 1 0.00280183
12-9002268-G-A p.Val678Met missense A2ML1 3 83286 3.60205E-5 41643 0 4.97092E-5
12-9002287-C-T p.Ser684Phe missense A2ML1 5 83308 6.00182E-5 41654 0 1.20215E-5
12-9002299-T-C p.Ile688Thr missense A2ML1 1 83308 1.20036E-5 41654 0 8.28199E-6
12-9002306-GC-G p.Pro691fs frameshift A2ML1 1 83314 1.20028E-5 41657 0 8.2813E-6
12-9002309-A-G p.Pro691Pro synonymous A2ML1 2 83322 2.40033E-5 41661 0 NA
12-9002327-A-G p.Arg697Arg synonymous A2ML1 2 83292 2.40119E-5 41646 0 NA
12-9002345-T-C p.Thr703Thr synonymous A2ML1 1 83272 1.20088E-5 41636 0 NA
12-9002346-G-A p.Ala704Thr missense A2ML1 1 83258 1.20109E-5 41629 0 NA
12-9002349-A-G p.Met705Val missense A2ML1 1 83248 1.20123E-5 41624 0 2.00427E-5
12-9002350-T-C p.Met705Thr missense A2ML1 1 83254 1.20114E-5 41627 0 8.82096E-5
12-9002353-G-A p.Gly706Asp missense+splice_region A2ML1 10 83244 1.20129E-4 41622 0 6.25E-4
12-9002753-CA-C c.2120-2delA splice_acceptor A2ML1 1 82970 1.20525E-5 41485 0 4.33339E-6
12-9002754-A-C c.2120-2A>C splice_acceptor A2ML1 3 82972 3.61568E-5 41486 0 1.67594E-5
12-9002761-G-A p.Gly709Ser missense A2ML1 2 83048 2.40825E-5 41524 0 6.36902E-5
12-9002764-G-A p.Gly710Ser missense A2ML1 1 83082 1.20363E-5 41541 0 8.33868E-6
12-9002771-C-G p.Pro712Arg missense A2ML1 2 83158 2.40506E-5 41579 0 4.08437E-6
12-9002772-A-G p.Pro712Pro synonymous A2ML1 1 83166 1.20241E-5 41583 0 8.31214E-6
12-9002777-CT-C p.Phe715fs frameshift A2ML1 21 83192 2.52428E-4 41596 0 3.48791E-4
12-9002778-T-C p.Ala714Ala synonymous A2ML1 3 83196 3.60594E-5 41598 0 9.29856E-5
12-9002783-A-G p.Glu716Gly missense A2ML1 6 83214 7.21032E-5 41607 0 9.29188E-5
12-9002788-T-C p.Ser718Pro missense A2ML1 1 83238 1.20137E-5 41619 0 NA
12-9002792-C-T p.Thr719Ile missense A2ML1 1 83242 1.20132E-5 41621 0 NA
12-9002809-G-A p.Glu725Lys missense A2ML1 131 83240 0.00157376 41620 4 0.00251762
12-9002816-C-T p.Ser727Phe missense A2ML1 1 83220 1.20163E-5 41610 0 4.0179E-6
12-9002825-G-A p.Arg730His missense A2ML1 5 83184 6.01077E-5 41592 0 6.3743E-5
12-9002827-C-T p.Gln731* stop_gained A2ML1 1 83206 1.20184E-5 41603 0 NA
12-9002832-C-G p.Tyr732* stop_gained A2ML1 1 83170 1.20236E-5 41585 0 NA
12-9002833-T-C p.Phe733Leu missense A2ML1 22 83162 2.64544E-4 41581 0 0.00125
12-9002852-G-T p.Trp739Leu missense A2ML1 2 82992 2.40987E-5 41496 0 1.61404E-5
12-9002853-G-C p.Trp739Cys missense A2ML1 1 82980 1.20511E-5 41490 0 3.18735E-5
12-9002867-T-C p.Ile744Thr missense A2ML1 1 82740 1.20861E-5 41370 0 5.04397E-5
12-9002868-T-C p.Ile744Ile splice_region+synonymous A2ML1 3 82746 3.62555E-5 41373 0 4.09856E-6
12-9002869-G-T p.Gly745Cys missense+splice_region A2ML1 1 82706 1.2091E-5 41353 0 NA
12-9002871-GT-G c.2234+2delT splice_donor A2ML1 1 82652 1.20989E-5 41326 0 NA
12-9004385-C-T p.Ser747Leu missense A2ML1 2 83176 2.40454E-5 41588 0 3.18796E-5
12-9004386-G-A p.Ser747Ser synonymous A2ML1 2 83194 2.40402E-5 41597 0 6.37349E-5
12-9004388-G-A p.Gly748Glu missense A2ML1 37 83206 4.44679E-4 41603 0 0.00158712
12-9004394-A-C p.Glu750Ala missense A2ML1 165 83224 0.0019826 41612 1 0.005
12-9004396-G-A p.Ala751Thr missense A2ML1 1 83236 1.2014E-5 41618 0 8.32071E-6
12-9004397-C-T p.Ala751Val missense A2ML1 373 83236 0.00448123 41618 4 0.00869815
12-9004398-G-A p.Ala751Ala synonymous A2ML1 1 83266 1.20097E-5 41633 0 2.40531E-5
12-9004405-G-A p.Val754Ile missense A2ML1 8 83290 9.60499E-5 41645 0 4.97752E-5
12-9004419-C-T p.Asp758Asp synonymous A2ML1 3 83316 3.60075E-5 41658 0 6.36943E-5
12-9004419-C-A p.Asp758Glu missense A2ML1 1 83316 1.20025E-5 41658 0 4.97216E-5
12-9004421-C-T p.Ala759Val missense A2ML1 4 83316 4.801E-5 41658 0 2.00364E-5
12-9004428-C-T p.Thr761Thr synonymous A2ML1 2 83332 2.40004E-5 41666 0 8.28336E-6
12-9004431-G-A p.Glu762Glu synonymous A2ML1 1 83336 1.19996E-5 41668 0 NA
12-9004439-C-T p.Ala765Val missense A2ML1 10 83340 1.1999E-4 41670 0 9.55292E-5
12-9004440-G-A p.Ala765Ala synonymous A2ML1 352 83340 0.00422366 41670 6 0.00866297
12-9004445-G-A p.Ser767Asn missense A2ML1 1 83340 1.1999E-5 41670 0 NA
12-9004451-G-A p.Cys769Tyr missense A2ML1 1 83338 1.19993E-5 41669 0 NA
12-9004452-C-T p.Cys769Cys synonymous A2ML1 1 83348 1.19979E-5 41674 0 NA
12-9004455-T-C p.Thr770Thr synonymous A2ML1 2 83354 2.3994E-5 41677 0 3.60612E-5
12-9004457-C-T p.Ser771Phe missense A2ML1 1 83356 1.19967E-5 41678 0 NA
12-9004465-A-G p.Arg774Gly missense A2ML1 6 83352 7.19839E-5 41676 0 0.00125
12-9004473-C-T p.Phe776Phe synonymous A2ML1 12 83352 1.43968E-4 41676 0 3.20556E-5
12-9004475-G-T p.Gly777Val missense A2ML1 1 83346 1.19982E-5 41673 0 NA
12-9004483-C-T p.Pro780Ser missense A2ML1 1 83354 1.1997E-5 41677 0 4.00686E-6
12-9004484-C-T p.Pro780Leu missense A2ML1 1 83354 1.1997E-5 41677 0 1.65604E-5
12-9004489-G-A p.Val782Ile missense A2ML1 1 83362 1.19959E-5 41681 0 1.20206E-5
12-9004512-G-A p.Pro789Pro synonymous A2ML1 70247 83232 0.84399 41616 29818 0.944375
12-9004524-C-G p.Asp793Glu missense A2ML1 1 83364 1.19956E-5 41682 0 2.4841E-5
12-9004530-T-C p.Thr795Thr synonymous A2ML1 1 83358 1.19964E-5 41679 0 NA
12-9004534-C-T p.Pro797Ser missense A2ML1 2 83354 2.3994E-5 41677 0 NA
12-9004540-T-G p.Ser799Ala missense A2ML1 13 83336 1.55995E-4 41668 0 1.59226E-4
12-9004549-C-T p.Arg802Cys missense A2ML1 3 83328 3.60023E-5 41664 0 6.36862E-5
12-9004550-G-A p.Arg802His missense A2ML1 57 83334 6.83995E-4 41667 0 0.0025
12-9004554-G-A p.Gly803Gly synonymous A2ML1 2 83332 2.40004E-5 41666 0 3.18512E-5
12-9004564-C-T p.Arg807Cys missense A2ML1 2 83310 2.40067E-5 41655 0 NA
12-9004565-G-A p.Arg807His missense A2ML1 3 83312 3.60092E-5 41656 0 9.55597E-5
12-9004575-C-T p.Ala810Ala synonymous A2ML1 2 83302 2.4009E-5 41651 0 6.36902E-5
12-9004586-A-G p.Asn814Ser missense A2ML1 6 83286 7.20409E-5 41643 0 2.89889E-4
12-9004599-T-C p.Asp818Asp synonymous A2ML1 1 83242 1.20132E-5 41621 0 NA
12-9004801-C-T c.2464-5C>T splice_region A2ML1 1 83274 1.20085E-5 41637 0 NA
12-9004802-G-A c.2464-4G>A splice_region A2ML1 3 83270 3.60274E-5 41635 0 5.80884E-5
12-9004806-G-A p.Val822Ile missense+splice_region A2ML1 16 83272 1.92141E-4 41636 0 1.91131E-4
12-9004811-G-A p.Gln823Gln synonymous A2ML1 1 83270 1.20091E-5 41635 0 1.60397E-5
12-9004812-A-G p.Thr824Ala missense A2ML1 1 83268 1.20094E-5 41634 0 6.37186E-5
12-9004826-A-G p.Lys828Lys synonymous A2ML1 5 83266 6.00485E-5 41633 0 9.55779E-5
12-9004828-C-T p.Ser829Leu missense A2ML1 3 83266 3.60291E-5 41633 0 4.40938E-5
12-9004828-C-A p.Ser829* stop_gained A2ML1 1 83268 1.20094E-5 41634 0 8.28459E-6
12-9004829-G-A p.Ser829Ser synonymous A2ML1 3 83266 3.60291E-5 41633 0 3.31373E-5
12-9004832-T-C p.His830His synonymous A2ML1 3 83266 3.60291E-5 41633 0 4.00818E-6
12-9004853-G-C p.Trp837Cys missense A2ML1 1 83260 1.20106E-5 41630 0 2.00394E-5
12-9004867-C-T p.Thr842Ile missense A2ML1 2 83254 2.40229E-5 41627 0 3.18451E-5
12-9004868-C-T p.Thr842Thr synonymous A2ML1 1 83256 1.20111E-5 41628 0 NA
12-9004870-C-T p.Ser843Phe missense A2ML1 1 83248 1.20123E-5 41624 0 8.28061E-6
12-9004876-G-A p.Cys845Tyr missense A2ML1 1 83252 1.20117E-5 41626 0 8.28075E-6
12-9004887-G-A p.Asp849Asn missense A2ML1 1 83230 1.20149E-5 41615 0 8.01558E-6
12-9004889-T-A p.Asp849Glu missense A2ML1 1 83230 1.20149E-5 41615 0 NA
12-9004892-C-A p.Asp850Glu missense A2ML1 81512 82938 0.982806 41469 40106 0.99875
12-9004902-C-T p.His854Tyr missense A2ML1 39 83194 4.68784E-4 41597 0 9.23685E-4
12-9004910-G-A p.Trp856* stop_gained A2ML1 2 83166 2.40483E-5 41583 0 3.60831E-5
12-9004927-A-T p.Lys862Ile missense A2ML1 2 83064 2.40778E-5 41532 0 4.01113E-6
12-9004929-T-C p.Leu863Leu synonymous A2ML1 1 83046 1.20415E-5 41523 0 8.29463E-6
12-9004934-T-C c.2590+2T>C splice_donor A2ML1 2 82980 2.41022E-5 41490 0 4.01268E-6
12-9004935-A-G c.2590+3A>G splice_region A2ML1 1 82966 1.20531E-5 41483 0 NA
12-9006743-TA-T p.Ser871fs frameshift A2ML1 1 83070 1.2038E-5 41535 0 NA
12-9006744-A-C p.Ser871Arg missense A2ML1 1 83050 1.20409E-5 41525 0 3.38289E-5
12-9006745-G-A p.Ser871Asn missense A2ML1 1 83124 1.20302E-5 41562 0 NA
12-9006756-C-T p.Leu875Leu synonymous A2ML1 1 83152 1.20262E-5 41576 0 NA
12-9006758-G-T p.Leu875Leu synonymous A2ML1 4 83136 4.81139E-5 41568 0 1.59246E-4
12-9006778-G-A p.Gly882Glu missense A2ML1 1 83262 1.20103E-5 41631 0 4.17188E-5
12-9006780-G-A p.Gly883Ser missense A2ML1 1 83250 1.2012E-5 41625 0 NA
12-9006786-A-G p.Lys885Glu missense A2ML1 3 83274 3.60256E-5 41637 0 NA
12-9006791-G-GT p.Val888fs frameshift A2ML1 2 83286 2.40136E-5 41643 0 3.18471E-5
12-9006791-G-A p.Gly886Gly synonymous A2ML1 2 83286 2.40136E-5 41643 0 3.18471E-5
12-9006803-A-T p.Gln890His missense A2ML1 5 83294 6.00283E-5 41647 0 6.36902E-5
12-9006804-A-C p.Lys891Gln missense A2ML1 1 83292 1.2006E-5 41646 0 NA
12-9006809-C-T p.Gly892Gly synonymous A2ML1 2 83274 2.40171E-5 41637 0 1.92523E-4
12-9006810-C-T p.Arg893* stop_gained A2ML1 5 83264 6.005E-5 41632 0 6.25E-4
12-9006811-G-A p.Arg893Gln missense A2ML1 4 83262 4.80411E-5 41631 0 6.36943E-5
12-9006814-G-A p.Ser894Asn missense A2ML1 1 83254 1.20114E-5 41627 0 3.35587E-5
12-9006820-C-T p.Thr896Met missense A2ML1 3 83212 3.60525E-5 41606 0 6.25E-4
12-9006821-G-A p.Thr896Thr synonymous A2ML1 1 83208 1.20181E-5 41604 0 0.00100705
12-9006839-C-T p.Leu902Leu synonymous A2ML1 2 83096 2.40685E-5 41548 0 6.36983E-5
12-9006840-G-A p.Val903Ile missense A2ML1 1 83076 1.20372E-5 41538 0 4.21774E-6
12-9007368-C-A c.2713-8C>A splice_region A2ML1 56 82848 6.75937E-4 41424 1 0.00264382
12-9007380-AGG-A p.Gly907fs frameshift A2ML1 3 82956 3.61638E-5 41478 0 1.07725E-4
12-9007407-G-A p.Ser915Asn missense A2ML1 2 83074 2.40749E-5 41537 0 NA
12-9007412-T-C p.Leu917Leu synonymous A2ML1 45 83072 5.41699E-4 41536 0 5.46738E-4
12-9007416-T-G p.Leu918Arg missense A2ML1 1 83042 1.20421E-5 41521 0 NA
12-9007421-C-G p.Pro920Ala missense A2ML1 2 82996 2.40975E-5 41498 0 1.20317E-5
12-9007428-G-A c.2764+1G>A splice_donor A2ML1 1 82928 1.20587E-5 41464 0 NA
12-9007434-G-A c.2764+7G>A splice_region A2ML1 2 82808 2.41523E-5 41404 0 8.28487E-6
12-9008098-C-G c.2765-7C>G splice_region A2ML1 3 83294 3.6017E-5 41647 0 3.1957E-5
12-9008112-G-T p.Val924Val synonymous A2ML1 1 83328 1.20008E-5 41664 0 NA
12-9008113-G-A p.Ala925Thr missense A2ML1 10 83330 1.20005E-4 41665 0 9.55536E-5
12-9008121-A-G p.Glu927Glu synonymous A2ML1 1 83350 1.19976E-5 41675 0 1.20217E-5
12-9008144-T-C p.Val935Ala missense A2ML1 1 83356 1.19967E-5 41678 0 2.48418E-5
12-9008149-A-G p.Ile937Val missense A2ML1 1 83354 1.1997E-5 41677 0 0.00125
12-9008155-C-G p.Pro939Ala missense A2ML1 2 83350 2.39952E-5 41675 0 NA
12-9008158-G-A p.Asp940Asn missense A2ML1 1 83348 1.19979E-5 41674 0 3.18431E-5
12-9008160-C-T p.Asp940Asp synonymous A2ML1 1 83348 1.19979E-5 41674 0 NA
12-9008162-C-T p.Ser941Leu missense A2ML1 4 83340 4.79962E-5 41670 0 2.48418E-5
12-9008165-C-A p.Thr942Asn missense A2ML1 1 83338 1.19993E-5 41669 0 8.0143E-6
12-9008167-A-G p.Lys943Glu missense A2ML1 1 83334 1.19999E-5 41667 0 8.01443E-6
12-9008171-C-T p.Ala944Val missense A2ML1 2 83334 2.39998E-5 41667 0 8.28089E-6
12-9008171-C-CT p.Tyr945fs frameshift A2ML1 1 83334 1.19999E-5 41667 0 NA
12-9008174-A-T p.Tyr945Phe missense A2ML1 2 83328 2.40015E-5 41664 0 3.31241E-5
12-9008180-C-T p.Thr947Met missense A2ML1 24 83324 2.88032E-4 41662 0 2.8985E-4
12-9008180-C-A p.Thr947Lys missense A2ML1 4 83324 4.80054E-5 41662 0 8.28144E-6
12-9008181-G-A p.Thr947Thr synonymous A2ML1 30 83320 3.60058E-4 41660 0 3.08588E-4
12-9008182-G-T p.Val948Phe missense A2ML1 1 83320 1.20019E-5 41660 0 3.1837E-5
12-9008188-G-T p.Gly950* stop_gained A2ML1 1 83302 1.20045E-5 41651 0 NA
12-9008189-G-A c.2848+1G>A splice_donor A2ML1 2 83284 2.40142E-5 41642 0 3.18431E-5
12-9008192-A-C c.2848+4A>C splice_region A2ML1 6 83288 7.20392E-5 41644 0 3.31307E-5
12-9009769-T-C p.Met953Thr missense A2ML1 1 83104 1.20331E-5 41552 0 NA
12-9009773-C-G p.Gly954Gly synonymous A2ML1 8 83098 9.62719E-5 41549 0 4.15552E-4
12-9009779-C-T p.Ala956Ala synonymous A2ML1 2860 82994 0.0344603 41497 76 0.0475705
12-9009783-C-A p.Gln958Lys missense A2ML1 1 83126 1.20299E-5 41563 0 1.65893E-5
12-9009792-G-A p.Asp961Asn missense A2ML1 1 83140 1.20279E-5 41570 0 9.56267E-5
12-9009795-G-T p.Gly962Cys missense A2ML1 6 83146 7.21622E-5 41573 0 NA
12-9009796-G-A p.Gly962Asp missense A2ML1 1 83154 1.20259E-5 41577 0 1.20258E-5
12-9009803-G-A p.Val964Val synonymous A2ML1 4 83166 4.80966E-5 41583 0 NA
12-9009804-C-T p.Gln965* stop_gained A2ML1 1 83162 1.20247E-5 41581 0 3.18593E-5
12-9009808-T-A p.Met966Lys missense A2ML1 2 83162 2.40494E-5 41581 0 NA
12-9009820-G-A p.Cys970Tyr missense A2ML1 18540 82764 0.22401 41382 2383 0.269386
12-9009824-C-T p.Gly971Gly synonymous A2ML1 2 83194 2.40402E-5 41597 0 1.65604E-5
12-9009825-G-A p.Glu972Lys missense A2ML1 2 83208 2.40361E-5 41604 0 3.1904E-5
12-9009834-A-G p.Met975Val missense A2ML1 2 83254 2.40229E-5 41627 0 8.28007E-6
12-9009835-T-C p.Met975Thr missense A2ML1 49 83242 5.88645E-4 41621 0 6.54125E-4
12-9009856-T-C p.Ile982Thr missense A2ML1 4 83328 4.80031E-5 41664 0 4.40751E-5
12-9009867-C-T p.Gln986* stop_gained A2ML1 2 83342 2.39975E-5 41671 0 8.2802E-6
12-9009873-C-T p.Leu988Leu synonymous A2ML1 2 83348 2.39958E-5 41674 0 8.28034E-6
12-9009895-C-T p.Thr995Met missense A2ML1 1 83366 1.19953E-5 41683 0 6.37714E-5
12-9009896-G-A p.Thr995Thr synonymous A2ML1 17 83370 2.0391E-4 41685 0 0.00100705
12-9009913-G-A p.Arg1001Gln missense A2ML1 4 83376 4.79754E-5 41688 0 6.25E-4
12-9009913-G-C p.Arg1001Pro missense A2ML1 1 83376 1.19939E-5 41688 0 3.18939E-5
12-9009914-G-A p.Arg1001Arg synonymous A2ML1 18 83370 2.15905E-4 41685 0 2.86917E-4
12-9009918-G-C p.Val1003Leu missense A2ML1 1 83372 1.19944E-5 41686 0 NA
12-9009922-G-C p.Gly1004Ala missense A2ML1 3 83374 3.59824E-5 41687 0 NA
12-9009928-T-C p.Leu1006Pro missense A2ML1 1 83370 1.19947E-5 41685 0 9.56023E-5
12-9009940-AGTTG-A c.3025+5_3025+8delGTTG splice_region A2ML1 1 83364 1.19956E-5 41682 0 NA
12-9010136-A-G p.Asn1020Ser missense A2ML1 1 83200 1.20192E-5 41600 0 NA
12-9010162-C-T p.Arg1029* stop_gained A2ML1 3 83086 3.61072E-5 41543 0 5.03525E-4
12-9010173-T-C p.Asn1032Asn synonymous A2ML1 2 82964 2.41068E-5 41482 0 0.00151057
12-9010181-C-A p.Thr1035Lys missense A2ML1 3 82864 3.62039E-5 41432 0 5.3841E-5
12-9010182-A-G p.Thr1035Thr splice_region+synonymous A2ML1 3 82870 3.62013E-5 41435 0 3.23981E-5
12-9010536-A-G c.3108-6A>G splice_region A2ML1 3 83222 3.60482E-5 41611 0 3.18939E-5
12-9010538-G-GT c.3108-4_3108-3insT splice_region A2ML1 737 83224 0.00885562 41612 36 0.0254779
12-9010558-A-G p.Thr1042Ala missense A2ML1 11 83294 1.32062E-4 41647 0 0.001875
12-9010562-A-C p.Lys1043Thr missense A2ML1 1 83292 1.2006E-5 41646 0 NA
12-9010568-T-G p.Phe1045Cys missense A2ML1 1 83302 1.20045E-5 41651 0 4.00818E-6
12-9010570-G-C p.Gly1046Arg missense A2ML1 1 83306 1.20039E-5 41653 0 2.48583E-5
12-9010574-A-G p.Gln1047Arg missense A2ML1 1 83310 1.20034E-5 41655 0 1.65673E-5
12-9010579-C-G p.Gln1049Glu missense A2ML1 3 83310 3.60101E-5 41655 0 6.37308E-5
12-9010588-A-G p.Ile1052Val missense A2ML1 7 83314 8.40195E-5 41657 0 4.80869E-5
12-9010595-T-C p.Ile1054Thr missense A2ML1 4 83322 4.80065E-5 41661 0 4.14051E-5
12-9010608-C-T p.Asn1058Asn synonymous A2ML1 1 83340 1.1999E-5 41670 0 NA
12-9010617-T-C p.Asp1061Asp synonymous A2ML1 1 83330 1.20005E-5 41665 0 4.00692E-6
12-9010664-C-T p.Ala1077Val missense A2ML1 1 83292 1.2006E-5 41646 0 4.00808E-6
12-9010667-A-G p.Asn1078Ser missense A2ML1 1 83292 1.2006E-5 41646 0 1.20236E-5
12-9010667-A-T p.Asn1078Ile missense A2ML1 1 83292 1.2006E-5 41646 0 NA
12-9010668-C-T p.Asn1078Asn synonymous A2ML1 20 83282 2.40148E-4 41641 0 6.25E-4
12-9010669-G-A p.Val1079Met missense A2ML1 4 83272 4.80354E-5 41636 0 8.29807E-6
12-9010671-G-A p.Val1079Val synonymous A2ML1 26286 82174 0.319882 41087 4271 0.350957
12-9010677-TCTC-T p.Leu1083del disruptive_inframe_deletion A2ML1 1 83252 1.20117E-5 41626 0 NA
12-9010681-C-T p.Leu1083Phe missense A2ML1 2 83232 2.40292E-5 41616 0 6.36983E-5
12-9010686-C-T p.His1084His synonymous A2ML1 269 83170 0.00323434 41585 1 0.00595807
12-9010703-G-A c.3264+5G>A splice_region A2ML1 3 82882 3.6196E-5 41441 0 7.89515E-5
12-9013481-G-A p.Gly1090Asp missense A2ML1 94 83126 0.00113081 41563 1 9.55962E-4
12-9013484-T-C p.Val1091Ala missense A2ML1 485 83138 0.00583367 41569 6 0.0124968
12-9013484-T-G p.Val1091Gly missense A2ML1 1 83152 1.20262E-5 41576 0 8.28034E-6
12-9013496-T-C p.Val1095Ala missense A2ML1 1 83210 1.20178E-5 41605 0 NA
12-9013506-T-G p.Thr1098Thr synonymous A2ML1 1 83246 1.20126E-5 41623 0 0.00100705
12-9013509-G-A p.Ala1099Ala synonymous A2ML1 2 83254 2.40229E-5 41627 0 1.59418E-4
12-9013515-C-T p.Val1101Val synonymous A2ML1 1 83278 1.2008E-5 41639 0 4.0068E-6
12-9013517-C-T p.Thr1102Ile missense A2ML1 1 83270 1.20091E-5 41635 0 1.20204E-5
12-9013546-G-A p.Val1112Ile missense A2ML1 1 83294 1.20057E-5 41647 0 8.28034E-6
12-9013551-T-G p.Asp1113Glu missense+splice_region A2ML1 1 83292 1.2006E-5 41646 0 3.18715E-5
12-9013552-G-T c.3339+1G>T splice_donor A2ML1 1 83298 1.20051E-5 41649 0 NA
12-9013737-A-G p.Met1116Val missense A2ML1 21 83366 2.51901E-4 41683 0 0.00100705
12-9013737-A-T p.Met1116Leu missense A2ML1 2 83364 2.39912E-5 41682 0 4.96878E-5
12-9013738-TG-T p.Val1117fs frameshift A2ML1 1 83366 1.19953E-5 41683 0 NA
12-9013749-G-A p.Gly1120Ser missense A2ML1 1 83358 1.19964E-5 41679 0 1.65615E-5
12-9013755-C-T p.Arg1122Trp missense A2ML1 30245 83090 0.364003 41545 6051 0.494375
12-9013771-C-T p.Ser1127Leu missense A2ML1 539 83350 0.00646671 41675 13 0.0110629
12-9013772-G-A p.Ser1127Ser synonymous A2ML1 2 83352 2.39946E-5 41676 0 8.01481E-5
12-9013775-C-G p.Ala1128Ala synonymous A2ML1 1 83352 1.19973E-5 41676 0 NA
12-9013775-C-T p.Ala1128Ala synonymous A2ML1 1 83352 1.19973E-5 41676 0 1.65623E-5
12-9013777-C-T p.Thr1129Ile missense A2ML1 2 83366 2.39906E-5 41683 0 1.65623E-5
12-9013783-C-T p.Thr1131Met missense A2ML1 504 83352 0.00604665 41676 5 0.0132241
12-9013786-C-T p.Thr1132Ile missense A2ML1 10 83368 1.1995E-4 41684 0 0.00151057
12-9013796-C-G p.Tyr1135* stop_gained A2ML1 1 83362 1.19959E-5 41681 0 NA
12-9013809-T-C p.Leu1140Leu synonymous A2ML1 1 83344 1.19985E-5 41672 0 3.18431E-5
12-9013813-C-G p.Ala1141Gly missense A2ML1 2 83338 2.39987E-5 41669 0 8.28487E-6
12-9013813-C-T p.Ala1141Val missense A2ML1 1 83338 1.19993E-5 41669 0 5.61046E-5
12-9013825-C-T p.Ser1145Phe missense A2ML1 1 83310 1.20034E-5 41655 0 NA
12-9013851-A-C p.Asn1154His missense A2ML1 2 83196 2.40396E-5 41598 0 NA
12-9013853-C-T p.Asn1154Asn synonymous A2ML1 5 83190 6.01034E-5 41595 0 4.00863E-6
12-9013857-C-T p.Leu1156Phe missense A2ML1 3 83142 3.60828E-5 41571 0 3.18695E-5
12-9013858-T-G p.Leu1156Arg missense A2ML1 1 83140 1.20279E-5 41570 0 NA
12-9013866-C-T p.Gln1159* stop_gained A2ML1 1 83050 1.20409E-5 41525 0 4.01126E-6
12-9013884-A-G p.Ile1165Val missense A2ML1 2 82658 2.41961E-5 41329 0 2.50213E-5
12-9013886-C-G p.Ile1165Met missense A2ML1 3 82620 3.63108E-5 41310 0 NA
12-9013898-G-A c.3502+5G>A splice_region A2ML1 1 82380 1.21389E-5 41190 0 1.20786E-5
12-9013899-T-C c.3502+6T>C splice_region A2ML1 1 82362 1.21415E-5 41181 0 3.18552E-5
12-9016371-TATGTTTCTTTTTCCATAGGAGA-T p.Gly1168fs frameshift A2ML1 1 82742 1.20858E-5 41371 0 4.0222E-6
12-9016387-T-C c.3503-3T>C splice_region A2ML1 5 82862 6.03413E-5 41431 0 1.66301E-5
12-9016390-G-C p.Gly1168Ala missense+splice_region A2ML1 1 82908 1.20616E-5 41454 0 1.20456E-5
12-9016397-C-A p.Ser1170Ser synonymous A2ML1 1 83024 1.20447E-5 41512 0 8.02407E-6
12-9016398-A-G p.Ile1171Val missense A2ML1 2 83038 2.40854E-5 41519 0 1.65975E-5
12-9016403-C-T p.Tyr1172Tyr synonymous A2ML1 4 83092 4.81394E-5 41546 0 6.4174E-5
12-9016410-C-T p.Gln1175* stop_gained A2ML1 1 83108 1.20325E-5 41554 0 4.00966E-6
12-9016421-T-A p.Thr1178Thr synonymous A2ML1 1 83168 1.20239E-5 41584 0 8.28761E-6
12-9016423-C-T p.Pro1179Leu missense A2ML1 1 83170 1.20236E-5 41585 0 8.28734E-6
12-9016428-T-A p.Ser1181Thr missense A2ML1 2 83182 2.40437E-5 41591 0 NA
12-9016429-C-T p.Ser1181Leu missense A2ML1 3 83180 3.60664E-5 41590 1 4.97183E-5
12-9016433-C-T p.Asn1182Asn synonymous A2ML1 1 83194 1.20201E-5 41597 0 4.14291E-5
12-9016434-G-A p.Ala1183Thr missense A2ML1 3 83186 3.60638E-5 41593 0 1.65719E-5
12-9016437-A-T p.Ser1184Cys missense A2ML1 172 83216 0.00206691 41608 0 0.00382117
12-9016439-C-G p.Ser1184Arg missense A2ML1 4 83214 4.80688E-5 41607 0 4.00779E-6
12-9016440-C-A p.Pro1185Thr missense A2ML1 1 83224 1.20158E-5 41612 0 NA
12-9016441-C-G p.Pro1185Arg missense A2ML1 1 83228 1.20152E-5 41614 0 NA
12-9016449-G-A p.Glu1188Lys missense A2ML1 1 83210 1.20178E-5 41605 0 NA
12-9016455-G-A p.Ala1190Thr missense A2ML1 1 83222 1.20161E-5 41611 0 1.65667E-5
12-9016456-C-T p.Ala1190Val missense A2ML1 5293 83140 0.0636637 41570 214 0.0552896
12-9016457-G-A p.Ala1190Ala synonymous A2ML1 3 83234 3.6043E-5 41617 0 8.28336E-6
12-9016461-G-A p.Val1192Ile missense A2ML1 1 83238 1.20137E-5 41619 0 8.28253E-6
12-9016463-A-G p.Val1192Val synonymous A2ML1 6 83244 7.20773E-5 41622 0 4.00747E-5
12-9016464-G-C p.Asp1193His missense A2ML1 1 83242 1.20132E-5 41621 0 6.36943E-5
12-9016465-A-G p.Asp1193Gly missense A2ML1 3 83238 3.60412E-5 41619 0 NA
12-9016506-A-G p.Lys1207Glu missense A2ML1 1 83242 1.20132E-5 41621 0 NA
12-9016535-G-A p.Ala1216Ala synonymous A2ML1 4 83218 4.80665E-5 41609 0 6.36902E-5
12-9016544-T-C p.Thr1219Thr synonymous A2ML1 3 83186 3.60638E-5 41593 0 4.00798E-5
12-9016557-T-C p.Trp1224Arg missense A2ML1 2 83084 2.4072E-5 41542 0 8.30841E-6
12-9016562-GGC-G p.Ala1226fs frameshift A2ML1 3882 82716 0.0469317 41358 120 0.060423
12-9016564-C-A p.Ala1226Asp missense A2ML1 3 82010 3.65809E-5 41005 0 8.02794E-6
12-9016568-G-A p.Lys1227Lys synonymous A2ML1 2 82724 2.41768E-5 41362 0 4.01358E-6
12-9016569-C-T p.Gln1228* stop_gained A2ML1 3 82694 3.62783E-5 41347 0 3.18573E-5
12-9016572-C-T p.His1229Tyr missense A2ML1 3 82622 3.63099E-5 41311 0 0.004375
12-9016573-A-G p.His1229Arg missense A2ML1 75057 76268 0.984122 38134 36981 1.0
12-9016573-A-T p.His1229Leu missense A2ML1 1 82572 1.21106E-5 41286 0 3.18552E-5
12-9016584-G-A p.Gly1233Arg missense A2ML1 2 82498 2.4243E-5 41249 0 2.4102E-5
12-9016598-T-C p.Ser1237Ser synonymous A2ML1 1 82060 1.21862E-5 41030 0 NA
12-9016600-C-T p.Thr1238Ile missense A2ML1 4 81964 4.88019E-5 40982 0 1.59286E-4
12-9016603-A-G p.Gln1239Arg missense+splice_region A2ML1 1 81882 1.22127E-5 40941 0 NA
12-9020443-T-G p.Thr1241Thr synonymous A2ML1 1 83210 1.20178E-5 41605 0 1.65689E-5
12-9020461-T-C p.Ala1247Ala synonymous A2ML1 4 83234 4.80573E-5 41617 0 NA
12-9020474-G-A p.Ala1252Thr missense A2ML1 2 83252 2.40234E-5 41626 0 NA
12-9020476-C-T p.Ala1252Ala synonymous A2ML1 1 83250 1.2012E-5 41625 0 8.28061E-6
12-9020481-C-T p.Thr1254Ile missense A2ML1 4 83268 4.80377E-5 41634 0 6.25E-4
12-9020482-C-T p.Thr1254Thr synonymous A2ML1 2 83268 2.40188E-5 41634 0 3.18431E-5
12-9020483-G-A p.Ala1255Thr missense A2ML1 2 83266 2.40194E-5 41633 0 5.03525E-4
12-9020488-C-T p.Tyr1256Tyr synonymous A2ML1 4 83270 4.80365E-5 41635 0 3.31225E-5
12-9020489-A-G p.Met1257Val missense A2ML1 67311 81372 0.827201 40686 28115 0.94125
12-9020504-A-G p.Ile1262Val missense A2ML1 2 83268 2.40188E-5 41634 0 1.20219E-5
12-9020508-A-G p.Asn1263Ser missense A2ML1 1 83270 1.20091E-5 41635 0 4.00728E-6
12-9020509-C-G p.Asn1263Lys missense A2ML1 112 83264 0.00134512 41632 1 0.00324717
12-9020516-G-GT p.Ser1268fs frameshift A2ML1 5 83276 6.00413E-5 41638 0 NA
12-9020539-G-C p.Gln1273His missense A2ML1 4 83242 4.80527E-5 41621 0 1.27364E-4
12-9020540-C-T p.Arg1274Cys missense A2ML1 1 83244 1.20129E-5 41622 0 3.1841E-5
12-9020541-G-A p.Arg1274His missense A2ML1 8 83240 9.61076E-5 41620 0 6.01116E-5
12-9020544-C-T p.Thr1275Ile missense A2ML1 10 83250 1.2012E-4 41625 0 1.91022E-4
12-9020549-A-G p.Asn1277Asp missense A2ML1 1 83238 1.20137E-5 41619 0 4.9682E-5
12-9020563-T-C p.Val1281Val synonymous A2ML1 6723 83138 0.0808655 41569 397 0.113009
12-9020570-T-C p.Leu1284Leu synonymous A2ML1 1 83186 1.20213E-5 41593 0 4.00779E-6
12-9020589-C-A p.Thr1290Asn missense A2ML1 15 83084 1.8054E-4 41542 0 3.82068E-4
12-9020594-C-T p.Pro1292Ser missense A2ML1 1 83038 1.20427E-5 41519 0 NA
12-9020598-A-G p.Asn1293Ser missense A2ML1 46 83024 5.54057E-4 41512 0 6.25E-4
12-9020600-G-A p.Val1294Ile missense A2ML1 196 83008 0.00236122 41504 1 0.00477616
12-9020600-G-T p.Val1294Phe missense A2ML1 1 83012 1.20465E-5 41506 0 NA
12-9020601-T-C p.Val1294Ala missense A2ML1 1 83002 1.20479E-5 41501 0 NA
12-9020611-G-A p.Met1297Ile missense A2ML1 1 82918 1.20601E-5 41459 0 8.28212E-6
12-9020614-C-T p.Tyr1298Tyr synonymous A2ML1 1 82888 1.20645E-5 41444 0 NA
12-9020616-C-T p.Thr1299Met missense A2ML1 1 82858 1.20688E-5 41429 0 8.02047E-6
12-9020623-G-C p.Glu1301Asp missense A2ML1 42 82746 5.07577E-4 41373 0 9.86947E-4
12-9020653-G-A p.Gln1311Gln splice_region+synonymous A2ML1 1 82146 1.21734E-5 41073 0 NA
12-9020655-T-C c.3933+2T>C splice_donor A2ML1 1 82086 1.21823E-5 41043 0 NA
12-9020657-A-G c.3933+4A>G splice_region A2ML1 2 82056 2.43736E-5 41028 0 3.21107E-5
12-9020821-A-G c.3934-5A>G splice_region A2ML1 1 83244 1.20129E-5 41622 0 4.01207E-6
12-9020827-C-T p.Thr1312Met missense+splice_region A2ML1 14 83236 1.68196E-4 41618 0 6.25E-4
12-9020828-G-A p.Thr1312Thr splice_region+synonymous A2ML1 4 83238 4.8055E-5 41619 0 4.14086E-5
12-9020829-G-A p.Val1313Met missense A2ML1 1 83238 1.20137E-5 41619 0 8.28144E-6
12-9020853-C-T p.Pro1321Ser missense A2ML1 1 83240 1.20135E-5 41620 0 4.01781E-5
12-9020857-C-A p.Thr1322Lys missense A2ML1 14 83230 1.68209E-4 41615 0 0.006875
12-9020859-A-C p.Asn1323His missense A2ML1 21 83234 2.52301E-4 41617 0 3.8219E-4
12-9020859-A-G p.Asn1323Asp missense A2ML1 3 83234 3.6043E-5 41617 0 8.28075E-6
12-9020863-T-C p.Met1324Thr missense A2ML1 1 83230 1.20149E-5 41615 0 9.55414E-5
12-9020901-A-G p.Arg1337Gly missense A2ML1 2 83290 2.40125E-5 41645 0 4.01471E-6
12-9020910-C-A p.Gln1340Lys missense A2ML1 7 83300 8.40336E-5 41650 0 3.82117E-4
12-9020912-A-G p.Gln1340Gln synonymous A2ML1 63746 83000 0.768024 41500 24810 0.84139
12-9020912-ACC-GCT p.GlnPro1340GlnLeu missense A2ML1 1 83296 1.20054E-5 41648 0 NA
12-9020914-C-T p.Pro1341Leu missense A2ML1 1 83302 1.20045E-5 41651 0 2.48472E-5
12-9020915-G-A p.Pro1341Pro synonymous A2ML1 2 83306 2.40079E-5 41653 0 1.60831E-5
12-9020917-C-T p.Thr1342Ile missense A2ML1 5 83318 6.0011E-5 41659 0 6.25E-4
12-9020926-G-A p.Arg1345Gln missense A2ML1 1 83312 1.20031E-5 41656 0 4.01984E-6
12-9020941-C-T p.Thr1350Ile missense A2ML1 1 83304 1.20042E-5 41652 0 1.65791E-5
12-9020942-T-C p.Thr1350Thr synonymous A2ML1 1 83306 1.20039E-5 41653 0 NA
12-9020946-C-G p.His1352Asp missense A2ML1 1 83308 1.20036E-5 41654 0 NA
12-9020948-C-T p.His1352His synonymous A2ML1 1 83298 1.20051E-5 41649 0 4.45917E-4
12-9020954-G-A c.4061+1G>A splice_donor A2ML1 104 83288 0.00124868 41644 0 0.00226172
12-9021145-C-G p.Ser1358Arg missense A2ML1 3 83156 3.60768E-5 41578 0 4.01043E-6
12-9021146-C-A p.Arg1359Ser missense A2ML1 1 83152 1.20262E-5 41576 0 8.02047E-6
12-9021146-C-T p.Arg1359Cys missense A2ML1 1 83152 1.20262E-5 41576 0 8.2982E-6
12-9021147-G-A p.Arg1359His missense A2ML1 52 83148 6.25391E-4 41574 0 4.39768E-4
12-9021150-G-T p.Ser1360Ile missense A2ML1 2 83132 2.40581E-5 41566 0 3.18674E-5
12-9021159-A-G p.Asn1363Ser missense A2ML1 2 83112 2.40639E-5 41556 0 NA
12-9021161-A-G p.Met1364Val missense A2ML1 17 83108 2.04553E-4 41554 0 1.00252E-4
12-9021196-C-G p.Phe1375Leu missense A2ML1 5 82650 6.04961E-5 41325 0 8.32307E-6
12-9021200-C-A p.Pro1377Thr missense A2ML1 1 82502 1.21209E-5 41251 0 NA
12-9021215-A-T p.Asn1382Tyr missense A2ML1 1 81788 1.22267E-5 40894 0 NA
12-9021216-A-G p.Asn1382Ser missense A2ML1 1 81728 1.22357E-5 40864 0 NA
12-9021728-C-T c.4153-3C>T splice_region A2ML1 2 83210 2.40356E-5 41605 0 1.20246E-5
12-9021734-CT-C p.Leu1386fs frameshift A2ML1 1 83218 1.20166E-5 41609 0 4.00782E-6
12-9021736-C-G p.Leu1386Leu synonymous A2ML1 1 83224 1.20158E-5 41612 0 3.18715E-5
12-9021744-C-T p.Pro1389Leu missense A2ML1 2 83226 2.4031E-5 41613 0 NA
12-9021758-G-T p.Val1394Phe missense A2ML1 2 83248 2.40246E-5 41624 0 3.18634E-5
12-9021761-G-T p.Glu1395* stop_gained A2ML1 3 83246 3.60378E-5 41623 0 8.01513E-6
12-9021761-G-A p.Glu1395Lys missense A2ML1 1 83246 1.20126E-5 41623 0 3.18492E-5
12-9021770-A-G p.Thr1398Ala missense A2ML1 1 83240 1.20135E-5 41620 0 NA
12-9021796-T-A p.Asp1406Glu missense A2ML1 3 83186 3.60638E-5 41593 0 3.18613E-5
12-9021801-T-C c.4221+2T>C splice_donor A2ML1 1 83168 1.20239E-5 41584 0 NA
12-9027014-C-T c.4222-7C>T splice_region A2ML1 1 83102 1.20334E-5 41551 0 NA
12-9027018-C-T c.4222-3C>T splice_region A2ML1 3 83130 3.60881E-5 41565 0 8.2883E-6
12-9027024-A-G p.Ile1409Val missense A2ML1 1 83186 1.20213E-5 41593 0 NA
12-9027025-T-C p.Ile1409Thr missense A2ML1 1 83186 1.20213E-5 41593 0 NA
12-9027032-C-T p.Asn1411Asn synonymous A2ML1 11 83212 1.32192E-4 41606 0 1.96404E-4
12-9027033-A-G p.Thr1412Ala missense A2ML1 1006 83194 0.0120922 41597 45 0.0233329
12-9027043-A-C p.Tyr1415Ser missense A2ML1 3 83026 3.61333E-5 41513 0 NA
12-9027060-C-T p.Gln1421* stop_gained A2ML1 7 83220 8.41144E-5 41610 0 2.4052E-4
12-9027063-AGT-A p.Val1423fs frameshift A2ML1 1 83226 1.20155E-5 41613 0 NA
12-9027079-A-G p.Asn1427Ser missense A2ML1 1 83186 1.20213E-5 41593 0 6.25E-4
12-9027079-A-C p.Asn1427Thr missense A2ML1 1 83186 1.20213E-5 41593 0 NA
12-9027080-C-T p.Asn1427Asn synonymous A2ML1 1 83186 1.20213E-5 41593 0 8.28899E-6
12-9027096-A-G p.Ile1433Val missense A2ML1 4 83092 4.81394E-5 41546 0 4.00937E-6
12-9027117-C-G p.Leu1440Val missense A2ML1 1 83014 1.20462E-5 41507 0 NA
12-9027125-T-C c.4324+2T>C splice_donor A2ML1 3 82880 3.61969E-5 41440 0 4.26134E-5
12-9027563-A-G c.4325-4A>G splice_region A2ML1 1 83254 1.20114E-5 41627 0 NA
12-9027573-A-G p.Gln1444Arg missense A2ML1 1 83288 1.20065E-5 41644 0 NA
12-9027576-C-A p.Ala1445Glu missense A2ML1 1 83298 1.20051E-5 41649 0 3.18492E-5
12-9027579-C-A p.Thr1446Lys missense A2ML1 3 83306 3.60118E-5 41653 0 4.00721E-6
12-9027597-C-T p.Pro1452Leu missense A2ML1 1 83306 1.20039E-5 41653 0 6.25E-4
12-9027600-G-A p.Cys1453Tyr missense A2ML1 1 83296 1.20054E-5 41648 0 3.18492E-5
12-9027603-A-G p.Glu1454Gly missense A2ML1 1 83294 1.20057E-5 41647 0 1.60294E-5
12-9027609-G-A c.*1+1G>A splice_donor A2ML1 2 83282 2.40148E-5 41641 0 NA