Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-47681725-C-T p.Ter903Ter stop_retained AGBL2 3 82644 3.63003E-5 41322 0 1.91095E-4
11-47681728-C-T p.Pro902Pro synonymous AGBL2 267 82698 0.00322862 41349 1 0.0161128
11-47681742-T-C p.Ile898Val missense AGBL2 1 82918 1.20601E-5 41459 0 8.2872E-6
11-47681746-C-G p.Leu896Phe missense AGBL2 6 82938 7.23432E-5 41469 0 0.00125156
11-47681756-T-C p.Tyr893Cys missense AGBL2 1 83034 1.20433E-5 41517 0 3.98111E-5
11-47681761-C-T p.Ala891Ala synonymous AGBL2 1 83064 1.20389E-5 41532 0 1.59239E-5
11-47681762-G-A p.Ala891Val missense AGBL2 23 83072 2.76868E-4 41536 0 8.59654E-4
11-47681779-T-A p.Arg885Ser missense AGBL2 2 83144 2.40547E-5 41572 0 8.24008E-6
11-47681791-A-G p.Pro881Pro synonymous AGBL2 2 83150 2.40529E-5 41575 0 3.18329E-5
11-47681792-G-C p.Pro881Arg missense AGBL2 2 83148 2.40535E-5 41574 0 1.19359E-5
11-47681810-C-T p.Trp875* stop_gained AGBL2 1 83218 1.20166E-5 41609 0 1.98908E-5
11-47681811-A-C p.Trp875Gly missense AGBL2 2 83216 2.40338E-5 41608 0 9.54783E-5
11-47681818-C-T p.Lys872Lys synonymous AGBL2 1 83232 1.20146E-5 41616 0 NA
11-47681835-G-A p.Pro867Ser missense AGBL2 1 83252 1.20117E-5 41626 0 NA
11-47681851-T-C p.Ile861Met missense AGBL2 2 83274 2.40171E-5 41637 0 8.23927E-6
11-47681878-T-C p.Thr852Thr synonymous AGBL2 331 83282 0.00397445 41641 2 0.0072593
11-47681889-G-T p.Pro849Thr missense AGBL2 2 83258 2.40217E-5 41629 0 8.26638E-6
11-47681891-T-C p.Lys848Arg missense AGBL2 2 83258 2.40217E-5 41629 0 NA
11-47681901-G-A c.2536-3C>T splice_region AGBL2 1 83180 1.20221E-5 41590 0 NA
11-47681904-C-T c.2536-6G>A splice_region AGBL2 3 83158 3.60759E-5 41579 0 3.3365E-5
11-47684606-A-G p.Ile836Thr missense AGBL2 2 83040 2.40848E-5 41520 0 1.6491E-5
11-47684626-G-A p.Asp829Asp synonymous AGBL2 14 83020 1.68634E-4 41510 0 3.18451E-5
11-47684628-C-T p.Asp829Asn missense AGBL2 1 83016 1.20459E-5 41508 0 NA
11-47684635-G-T p.Thr826Thr synonymous AGBL2 1 82996 1.20488E-5 41498 0 NA
11-47684635-G-A p.Thr826Thr synonymous AGBL2 1 82996 1.20488E-5 41498 0 8.25587E-6
11-47684647-T-C p.Arg822Arg synonymous AGBL2 1 82946 1.2056E-5 41473 0 NA
11-47684651-C-G p.Arg821Thr missense AGBL2 6 82902 7.23746E-5 41451 0 NA
11-47684663-G-T p.Thr817Lys missense+splice_region AGBL2 1 82618 1.21039E-5 41309 0 NA
11-47684666-T-C c.2449-2A>G splice_acceptor AGBL2 1 82564 1.21118E-5 41282 0 NA
11-47684669-A-C c.2449-5T>G splice_region AGBL2 2 82514 2.42383E-5 41257 0 4.46464E-6
11-47688389-G-A p.Pro818Leu missense AGBL2 4 66896 5.97943E-5 33448 0 1.27389E-4
11-47688399-G-A p.Leu815Leu synonymous AGBL2 1 69404 1.44084E-5 34702 0 NA
11-47688410-C-T p.Arg811His missense AGBL2 1 72176 1.3855E-5 36088 0 3.18492E-5
11-47688411-G-A p.Arg811Cys missense AGBL2 1 72558 1.37821E-5 36279 0 1.03125E-4
11-47688416-T-C p.His809Arg missense AGBL2 1 74248 1.34684E-5 37124 0 NA
11-47688421-A-G p.Asn807Asn synonymous AGBL2 12 75324 1.59312E-4 37662 0 3.82166E-4
11-47688423-T-C p.Asn807Asp missense AGBL2 1 75852 1.31836E-5 37926 0 NA
11-47688430-G-A p.Asp804Asp synonymous AGBL2 1 76768 1.30263E-5 38384 0 3.18431E-5
11-47688436-T-C p.Gln802Gln synonymous AGBL2 1 77680 1.28733E-5 38840 0 5.52862E-4
11-47688439-T-A p.Pro801Pro synonymous AGBL2 1 78196 1.27884E-5 39098 0 NA
11-47688458-C-A p.Arg795Leu missense AGBL2 3 79862 3.75648E-5 39931 0 1.0041E-5
11-47688458-C-T p.Arg795Gln missense AGBL2 1 79862 1.25216E-5 39931 0 3.18593E-5
11-47688459-G-A p.Arg795* stop_gained AGBL2 3295 79630 0.0413789 39815 197 0.0778281
11-47688482-CAA-C p.Cys787fs frameshift AGBL2 4 81834 4.88794E-5 40917 0 NA
11-47688483-A-G p.Cys787Arg missense AGBL2 7 81872 8.54993E-5 40936 0 6.44257E-4
11-47688504-C-G p.Val780Leu missense AGBL2 7 82628 8.4717E-5 41314 0 0.00125
11-47688504-C-T p.Val780Ile missense AGBL2 7 82626 8.47191E-5 41313 0 8.49721E-5
11-47688508-C-CT p.Thr817fs frameshift AGBL2 1 82738 1.20863E-5 41369 0 NA
11-47688517-C-G p.Arg813Ser missense AGBL2 1 82854 1.20694E-5 41427 0 NA
11-47688519-T-C p.Arg813Gly missense AGBL2 5 82880 6.03282E-5 41440 0 2.40394E-5
11-47688523-G-A p.Asn811Asn synonymous AGBL2 1 82914 1.20607E-5 41457 0 NA
11-47688536-A-G p.Met807Thr missense AGBL2 7 83028 8.43089E-5 41514 0 NA
11-47688537-T-C p.Met807Val missense AGBL2 1 83032 1.20435E-5 41516 0 3.99135E-6
11-47688538-T-C p.Pro806Pro synonymous AGBL2 3 83042 3.61263E-5 41521 0 8.86195E-6
11-47688547-A-G p.Ser803Ser synonymous AGBL2 25 83068 3.00958E-4 41534 0 1.993E-4
11-47688548-C-A p.Ser803Ile missense AGBL2 1 83068 1.20383E-5 41534 0 NA
11-47688563-T-G p.Asn798Thr missense AGBL2 4 83060 4.8158E-5 41530 0 8.55505E-6
11-47688572-A-G p.Phe795Ser missense AGBL2 2 83064 2.40778E-5 41532 0 3.99278E-6
11-47688584-T-G p.Lys791Thr missense AGBL2 4 83008 4.81881E-5 41504 0 6.3674E-5
11-47688593-G-A p.Thr788Ile missense AGBL2 2 82920 2.41196E-5 41460 0 NA
11-47688609-C-T p.Ala783Thr missense AGBL2 1 82776 1.20808E-5 41388 0 NA
11-47689116-T-C c.2340+7A>G splice_region AGBL2 6 83224 7.20946E-5 41612 0 3.1839E-5
11-47689131-C-G p.Asp778His missense AGBL2 2 83250 2.4024E-5 41625 0 NA
11-47689158-A-C p.Leu769Val missense AGBL2 2 83264 2.402E-5 41632 0 3.29554E-5
11-47689159-A-AT p.Asn768fs frameshift AGBL2 31 83262 3.72319E-4 41631 0 3.51101E-4
11-47689172-T-C p.Tyr764Cys missense AGBL2 3 83254 3.60343E-5 41627 0 NA
11-47689175-TG-T p.Gln763fs frameshift AGBL2 1 83264 1.201E-5 41632 0 NA
11-47689184-C-T p.Arg760Gln missense AGBL2 1 83254 1.20114E-5 41627 0 9.5584E-5
11-47689185-G-A p.Arg760* stop_gained AGBL2 2 83252 2.40234E-5 41626 0 8.24389E-6
11-47689185-GCT-G p.Gln759fs frameshift AGBL2 1 83252 1.20117E-5 41626 0 3.29755E-5
11-47689185-G-T p.Arg760Arg synonymous AGBL2 2 83252 2.40234E-5 41626 0 8.24389E-6
11-47689185-G-C p.Arg760Gly missense AGBL2 1 83252 1.20117E-5 41626 0 1.64878E-5
11-47689186-C-A p.Gln759His missense AGBL2 1 83260 1.20106E-5 41630 0 8.24389E-6
11-47689188-G-A p.Gln759* stop_gained AGBL2 1 83256 1.20111E-5 41628 0 1.1944E-5
11-47689210-C-CT p.Lys752fs frameshift AGBL2 2 83238 2.40275E-5 41619 0 8.03484E-6
11-47689218-TC-T p.Lys751fs frameshift AGBL2 1 83242 1.20132E-5 41621 0 3.30229E-5
11-47689222-C-G p.Lys747Asn missense AGBL2 6 83230 7.20894E-5 41615 0 1.319E-4
11-47689233-T-C p.Lys744Glu missense AGBL2 1 83200 1.20192E-5 41600 0 3.30393E-5
11-47689234-C-A p.Lys743Asn missense AGBL2 6 83192 7.21223E-5 41596 0 1.27649E-4
11-47689234-C-G p.Lys743Asn missense AGBL2 6 83192 7.21223E-5 41596 1 NA
11-47689245-T-C p.Thr740Ala missense AGBL2 1 83158 1.20253E-5 41579 0 8.26624E-6
11-47690403-A-C p.Ile735Arg missense AGBL2 1 82842 1.20712E-5 41421 0 NA
11-47690403-A-G p.Ile735Thr missense AGBL2 2 82842 2.41423E-5 41421 0 8.2394E-6
11-47690413-G-C p.Leu732Val missense AGBL2 1 82894 1.20636E-5 41447 0 NA
11-47690428-C-T p.Gly727Ser missense AGBL2 2 82850 2.414E-5 41425 0 3.97918E-6
11-47690432-TGA-T p.Ser725fs frameshift AGBL2 6 82832 7.24358E-5 41416 0 1.59378E-4
11-47690442-C-G p.Ser722Thr missense AGBL2 1 82782 1.20799E-5 41391 0 8.24729E-6
11-47690443-T-A p.Ser722Cys missense AGBL2 1 82748 1.20849E-5 41374 0 3.18817E-5
11-47690450-G-A p.Gly719Gly synonymous AGBL2 3 82704 3.62739E-5 41352 0 7.42734E-5
11-47690454-C-T p.Ser718Asn missense AGBL2 1 82648 1.20995E-5 41324 0 3.98187E-6
11-47690462-G-A c.2148-3C>T splice_region AGBL2 1 82422 1.21327E-5 41211 0 8.27034E-6
11-47690472-G-C c.2148-7C>G splice_region AGBL2 1 82082 1.21829E-5 41041 0 NA
11-47698814-CTT-C c.2147+7_2147+8delAA splice_region AGBL2 2 81770 2.44588E-5 40885 0 4.4147E-6
11-47698832-A-G p.Ile713Thr missense AGBL2 3 82448 3.63866E-5 41224 0 NA
11-47698838-G-A p.Ser711Phe missense AGBL2 2 82606 2.42113E-5 41303 0 NA
11-47698844-G-A p.Ser709Phe missense AGBL2 1 82686 1.20939E-5 41343 0 NA
11-47698847-A-T p.Ile708Asn missense AGBL2 1 82732 1.20872E-5 41366 0 NA
11-47698850-T-C p.Asp707Gly missense AGBL2 1 82776 1.20808E-5 41388 0 NA
11-47698855-C-T p.Trp705* stop_gained AGBL2 1 82868 1.20674E-5 41434 0 8.44709E-6
11-47698855-C-G p.Trp705Cys missense AGBL2 1 82868 1.20674E-5 41434 0 NA
11-47698866-C-G p.Glu702Gln missense AGBL2 2 83000 2.40964E-5 41500 0 NA
11-47698872-C-T p.Asp700Asn missense AGBL2 2 83074 2.40749E-5 41537 0 8.41496E-6
11-47698876-A-G p.Asp698Asp synonymous AGBL2 1 83090 1.20351E-5 41545 0 NA
11-47698913-T-C p.Gln686Arg missense AGBL2 1 83080 1.20366E-5 41540 0 3.18512E-5
11-47698916-C-G p.Arg685Pro missense AGBL2 3 83070 3.61141E-5 41535 0 8.02336E-6
11-47698917-G-T p.Arg685Arg synonymous AGBL2 2 83056 2.40801E-5 41528 0 1.68291E-5
11-47698917-G-A p.Arg685* stop_gained AGBL2 2 83056 2.40801E-5 41528 0 3.18674E-5
11-47698923-G-A p.Leu683Phe missense AGBL2 3 83040 3.61272E-5 41520 0 6.37389E-5
11-47698924-C-T p.Glu682Glu synonymous AGBL2 2 83052 2.40813E-5 41526 0 9.55597E-5
11-47698949-G-T p.Thr674Asn missense AGBL2 2 80758 2.47653E-5 40379 0 NA
11-47698957-T-C c.2017-4A>G splice_region AGBL2 1 79982 1.25028E-5 39991 0 9.03E-6
11-47701528-C-A p.Met671Ile missense AGBL2 44172 80192 0.550828 40096 12484 0.593278
11-47701534-G-A p.Asp669Asp synonymous AGBL2 3 82172 3.65088E-5 41086 0 6.47836E-5
11-47701558-G-C p.Thr661Thr synonymous AGBL2 17 82628 2.05741E-4 41314 0 7.11882E-4
11-47701559-G-C p.Thr661Ser missense AGBL2 3 82616 3.63126E-5 41308 0 1.19393E-5
11-47701560-T-G p.Thr661Pro missense AGBL2 29 82678 3.50758E-4 41339 0 0.00125
11-47701572-G-A p.His657Tyr missense AGBL2 1 82672 1.2096E-5 41336 0 3.97956E-6
11-47701573-A-G p.Tyr656Tyr synonymous AGBL2 1 82670 1.20963E-5 41335 0 8.23805E-6
11-47701574-T-G p.Tyr656Ser missense AGBL2 8 82692 9.67445E-5 41346 0 6.4433E-5
11-47701581-A-T p.Leu654Ile missense AGBL2 1 82702 1.20916E-5 41351 0 NA
11-47701582-G-A p.Ser653Ser synonymous AGBL2 1 82652 1.20989E-5 41326 0 2.47154E-5
11-47701591-A-G p.Asp650Asp synonymous AGBL2 8 82604 9.68476E-5 41302 0 1.61394E-4
11-47701593-C-G p.Asp650His missense AGBL2 1 82626 1.21027E-5 41313 0 3.98737E-6
11-47701595-T-C p.Glu649Gly missense AGBL2 1 82562 1.21121E-5 41281 0 3.23248E-5
11-47701596-C-T p.Glu649Lys missense AGBL2 5 82484 6.06178E-5 41242 0 1.64813E-5
11-47701597-G-A p.Ile648Ile synonymous AGBL2 6 82470 7.27537E-5 41235 0 2.79145E-5
11-47701597-G-T p.Ile648Ile synonymous AGBL2 2 82474 2.42501E-5 41237 0 NA
11-47701629-GA-G c.1916-5delT splice_region AGBL2 539 74408 0.00724384 37204 2 0.227583
11-47701629-G-GA c.1916-5_1916-4insT splice_region AGBL2 238 72318 0.00329102 36159 0 0.154491
11-47701629-GAA-G c.1916-6_1916-5delTT splice_region AGBL2 26 81052 3.20782E-4 40526 0 0.00138237
11-47701629-G-GAA c.1916-5_1916-4insTT splice_region AGBL2 3 81034 3.70215E-5 40517 0 4.73861E-4
11-47703516-T-C c.1915+5A>G splice_region AGBL2 2 83324 2.40027E-5 41662 0 NA
11-47703521-C-T p.Gly639Ser missense+splice_region AGBL2 2 83328 2.40015E-5 41664 0 4.94486E-5
11-47703533-C-T p.Gly635Arg missense AGBL2 1 83326 1.20011E-5 41663 0 1.4829E-4
11-47703533-C-G p.Gly635Arg missense AGBL2 1 83326 1.20011E-5 41663 0 NA
11-47703534-G-C p.Gly634Gly synonymous AGBL2 1 83330 1.20005E-5 41665 0 NA
11-47703540-G-T p.Thr632Thr synonymous AGBL2 1 83338 1.19993E-5 41669 0 7.95621E-6
11-47703540-G-A p.Thr632Thr synonymous AGBL2 2 83338 2.39987E-5 41669 0 7.95621E-6
11-47703542-T-C p.Thr632Ala missense AGBL2 3 83334 3.59997E-5 41667 0 NA
11-47703546-C-T p.Glu630Glu synonymous AGBL2 1 83330 1.20005E-5 41665 0 NA
11-47703554-T-G p.Thr628Pro missense AGBL2 1 83342 1.19988E-5 41671 0 3.97659E-6
11-47703557-A-G p.Tyr627His missense AGBL2 1 83342 1.19988E-5 41671 0 NA
11-47703562-T-G p.Asn625Thr missense AGBL2 2 83336 2.39992E-5 41668 0 NA
11-47703576-C-T p.Gly122Glu missense AGBL2 1 83342 1.19988E-5 41671 0 3.9764E-6
11-47703578-G-A p.Arg620Trp missense AGBL2 10 83348 1.19979E-4 41674 0 6.25E-4
11-47703592-C-T p.Arg615Gln missense AGBL2 1 83352 1.19973E-5 41676 0 6.25E-4
11-47703593-G-A p.Arg615* stop_gained AGBL2 1 83348 1.19979E-5 41674 0 1.64859E-5
11-47703598-G-A p.Gln115* stop_gained AGBL2 1 83354 1.1997E-5 41677 0 3.29826E-5
11-47703604-T-C p.Glu611Gly missense AGBL2 1 83352 1.19973E-5 41676 0 1.65041E-5
11-47703611-A-G p.Cys609Arg missense AGBL2 2 83334 2.39998E-5 41667 0 NA
11-47703633-A-G p.Val103Ala missense AGBL2 2 83308 2.40073E-5 41654 0 3.98213E-6
11-47707438-T-C c.1788+7A>G splice_region AGBL2 3 83246 3.60378E-5 41623 0 2.3903E-5
11-47707439-G-A c.1788+6C>T splice_region AGBL2 1 83252 1.20117E-5 41626 0 8.24797E-6
11-47707458-T-G p.Asn592Thr missense AGBL2 1 83296 1.20054E-5 41648 0 NA
11-47707460-T-A p.Lys591Asn missense AGBL2 3 83294 3.6017E-5 41647 0 6.37064E-5
11-47707462-T-G p.Lys591Gln missense AGBL2 1 83294 1.20057E-5 41647 0 NA
11-47707482-A-C p.Val584Gly missense AGBL2 1 83304 1.20042E-5 41652 0 8.23723E-6
11-47707486-G-A p.Arg583* stop_gained AGBL2 6 83302 7.20271E-5 41651 0 3.18613E-5
11-47707491-T-C p.His581Arg missense AGBL2 1 83310 1.20034E-5 41655 0 NA
11-47707505-G-C p.Arg576Arg synonymous AGBL2 3 83318 3.60066E-5 41659 0 6.37471E-5
11-47707506-C-T p.Arg576His missense AGBL2 4 83320 4.80077E-5 41660 0 4.11875E-5
11-47707514-G-A p.Asn573Asn synonymous AGBL2 1 83328 1.20008E-5 41664 0 NA
11-47707519-T-C p.Asn572Asp missense AGBL2 2 83320 2.40038E-5 41660 0 3.97757E-6
11-47707548-C-T p.Arg562His missense AGBL2 7 83288 8.40457E-5 41644 0 2.42689E-4
11-47707568-A-T p.Cys555* stop_gained AGBL2 1 83298 1.20051E-5 41649 0 NA
11-47707577-C-T p.Leu552Leu synonymous AGBL2 1 83292 1.2006E-5 41646 0 3.18492E-5
11-47707583-C-T p.Glu550Glu synonymous AGBL2 1 83282 1.20074E-5 41641 0 3.18532E-5
11-47707598-A-G p.Leu545Leu synonymous AGBL2 2 83274 2.40171E-5 41637 0 8.2428E-6
11-47711642-C-T p.Arg539Arg synonymous AGBL2 196 82808 0.00236692 41404 0 0.00254594
11-47711679-A-T p.Ile527Asn missense AGBL2 10 83204 1.20187E-4 41602 0 5.03525E-4
11-47711685-T-G p.Lys525Thr missense AGBL2 1 83228 1.20152E-5 41614 0 5.03525E-4
11-47711705-C-A p.Arg518Ser missense AGBL2 1 83278 1.2008E-5 41639 0 3.97753E-6
11-47711710-C-T p.Gly517Arg missense AGBL2 27 83284 3.24192E-4 41642 0 5.03525E-4
11-47711711-G-A p.Ala516Ala synonymous AGBL2 22 83288 2.64144E-4 41644 0 6.76043E-4
11-47711724-C-T p.Arg512Gln missense AGBL2 3 83296 3.60161E-5 41648 0 NA
11-47711725-G-A p.Arg512Trp missense AGBL2 3 83294 3.6017E-5 41647 0 6.37064E-5
11-47711727-T-A p.Tyr511Phe missense AGBL2 1 83298 1.20051E-5 41649 0 NA
11-47711762-G-A p.Pro499Pro synonymous AGBL2 2 83286 2.40136E-5 41643 0 NA
11-47711779-CA-C p.Phe493fs frameshift AGBL2 8 83272 9.60707E-5 41636 0 6.44427E-4
11-47711796-A-G p.Leu488Pro missense AGBL2 1 83234 1.20143E-5 41617 0 8.24063E-6
11-47711820-A-G p.Leu480Pro missense AGBL2 990 83158 0.011905 41579 7 0.0116672
11-47711839-CT-C p.Gly474fs frameshift AGBL2 1 83064 1.20389E-5 41532 0 NA
11-47711840-T-C p.Lys473Lys synonymous AGBL2 2 83062 2.40784E-5 41531 0 3.98953E-6
11-47711859-T-C p.Asn467Ser missense AGBL2 2 82896 2.41266E-5 41448 0 1.1963E-5
11-47711880-C-A p.Arg460Ile missense AGBL2 1 82678 1.20951E-5 41339 0 6.37186E-5
11-47711884-C-A p.Ala459Ser missense AGBL2 5 82612 6.05239E-5 41306 0 1.59317E-4
11-47711884-C-T p.Ala459Thr missense AGBL2 1 82612 1.21048E-5 41306 0 8.25164E-6
11-47711893-C-T p.Val456Ile missense AGBL2 1 82568 1.21112E-5 41284 0 3.98848E-6
11-47711898-G-C p.Ala454Gly missense AGBL2 1 82510 1.21197E-5 41255 0 NA
11-47711910-G-T p.Ala450Asp missense AGBL2 1 82472 1.21253E-5 41236 0 3.30011E-5
11-47711923-G-T p.Pro446Thr missense AGBL2 6 82480 7.27449E-5 41240 0 1.27421E-4
11-47711923-G-A p.Pro446Ser missense AGBL2 3 82480 3.63725E-5 41240 0 8.24906E-6
11-47711925-G-T p.Thr445Asn missense AGBL2 1 82494 1.21221E-5 41247 0 NA
11-47711929-G-A p.Gln444* stop_gained AGBL2 4 82542 4.84602E-5 41271 0 1.64997E-5
11-47711930-G-A p.Ser443Ser synonymous AGBL2 4 82548 4.84567E-5 41274 0 NA
11-47711944-T-C p.Ile439Val missense AGBL2 49 82720 5.9236E-4 41360 1 0.00168801
11-47711946-G-T p.Thr438Asn missense AGBL2 3 82738 3.6259E-5 41369 0 5.03525E-4
11-47711963-A-G p.Asn432Asn synonymous AGBL2 1 82928 1.20587E-5 41464 0 8.24606E-6
11-47711964-T-C p.Asn432Ser missense AGBL2 1 82938 1.20572E-5 41469 0 NA
11-47711968-C-A p.Gly431* stop_gained AGBL2 2 82976 2.41034E-5 41488 0 NA
11-47711982-C-A p.Cys426Phe missense AGBL2 1 83132 1.20291E-5 41566 0 NA
11-47711983-A-C p.Cys426Gly missense AGBL2 1 83150 1.20265E-5 41575 0 6.25E-4
11-47711984-TAA-T p.Leu425fs frameshift AGBL2 3 83148 3.60802E-5 41574 0 NA
11-47712011-C-G p.Gln416His missense AGBL2 2 83224 2.40315E-5 41612 0 8.23764E-6
11-47712015-A-G p.Ile415Thr missense AGBL2 3 83232 3.60438E-5 41616 0 1.2747E-4
11-47712029-C-A p.Val410Val synonymous AGBL2 2 83252 2.40234E-5 41626 0 1.07091E-4
11-47712037-G-A p.Leu408Leu synonymous AGBL2 1 83258 1.20109E-5 41629 0 3.97747E-6
11-47712037-G-T p.Leu408Met missense AGBL2 1 83258 1.20109E-5 41629 0 NA
11-47712041-G-A p.Tyr406Tyr synonymous AGBL2 1 83258 1.20109E-5 41629 0 1.64734E-5
11-47712047-T-C p.Gln404Gln synonymous AGBL2 1 83260 1.20106E-5 41630 0 3.97753E-6
11-47712049-G-C p.Gln404Glu missense AGBL2 1 83258 1.20109E-5 41629 0 NA
11-47712057-G-A p.Thr401Ile missense AGBL2 3 83270 3.60274E-5 41635 0 2.47113E-5
11-47712063-G-GTATA p.Thr399fs frameshift AGBL2 1 83270 1.20091E-5 41635 0 NA
11-47712078-T-C p.His394Arg missense AGBL2 2 83300 2.40096E-5 41650 0 8.23669E-6
11-47712082-C-T p.Ala393Thr missense AGBL2 1 83302 1.20045E-5 41651 0 8.23669E-6
11-47712104-A-G p.Tyr385Tyr synonymous AGBL2 1 83326 1.20011E-5 41663 0 3.97716E-6
11-47712107-T-C p.Pro384Pro synonymous AGBL2 2 83332 2.40004E-5 41666 0 NA
11-47712108-G-A p.Pro384Leu missense AGBL2 1 83328 1.20008E-5 41664 0 5.03525E-4
11-47712109-G-C p.Pro384Ala missense AGBL2 69 83326 8.28073E-4 41663 0 0.0020141
11-47712120-G-C p.Thr380Ser missense AGBL2 2 83334 2.39998E-5 41667 0 8.23669E-6
11-47712125-C-T p.Thr378Thr synonymous AGBL2 5 83332 6.0001E-5 41666 0 4.11834E-5
11-47712151-C-T p.Gly370Arg missense AGBL2 1 83348 1.19979E-5 41674 0 6.37024E-5
11-47712156-TC-T p.Asp368fs frameshift AGBL2 1 83332 1.20002E-5 41666 0 NA
11-47712158-C-T p.Thr367Thr synonymous AGBL2 7 83328 8.40054E-5 41664 0 8.35216E-5
11-47712159-G-A p.Thr367Met missense AGBL2 1 83328 1.20008E-5 41664 0 1.59076E-5
11-47712197-C-G p.Arg354Ser missense AGBL2 1 83292 1.2006E-5 41646 0 3.18431E-5
11-47712203-G-A p.Gly352Gly synonymous AGBL2 2 83286 2.40136E-5 41643 0 8.23696E-6
11-47712205-C-T p.Gly352Ser missense AGBL2 1 83286 1.20068E-5 41643 0 1.1933E-5
11-47712210-T-C p.Asn350Ser missense AGBL2 1 83276 1.20083E-5 41638 0 NA
11-47712213-C-T p.Arg349His missense AGBL2 9233 83164 0.111022 41582 599 0.098381
11-47712213-C-A p.Arg349Leu missense AGBL2 5 83272 6.00442E-5 41636 0 2.47125E-5
11-47712214-G-A p.Arg349Cys missense AGBL2 49 83270 5.88447E-4 41635 0 0.00100705
11-47712229-A-G p.Leu344Leu synonymous AGBL2 3 83284 3.60213E-5 41642 0 2.47125E-5
11-47712235-A-T p.Ser342Thr missense AGBL2 1 83274 1.20085E-5 41637 0 1.64747E-5
11-47712242-G-C p.Leu339Leu synonymous AGBL2 1 83292 1.2006E-5 41646 0 NA
11-47712262-T-G p.Thr333Pro missense AGBL2 2 83288 2.40131E-5 41644 0 1.64766E-5
11-47712264-T-A p.Tyr332Phe missense AGBL2 2 83290 2.40125E-5 41645 0 3.29527E-5
11-47712272-C-T p.Lys329Lys synonymous AGBL2 1 83296 1.20054E-5 41648 0 NA
11-47712273-T-C p.Lys329Arg missense AGBL2 2 83296 2.40108E-5 41648 0 6.36335E-5
11-47712282-A-T p.Leu326Gln missense AGBL2 1 83292 1.2006E-5 41646 0 NA
11-47712286-A-G p.Leu325Leu synonymous AGBL2 1 83298 1.20051E-5 41649 0 3.9769E-6
11-47712303-C-T p.Arg319His missense AGBL2 3 83300 3.60144E-5 41650 0 5.03525E-4
11-47712303-C-G p.Arg319Pro missense AGBL2 1 83300 1.20048E-5 41650 0 8.24375E-6
11-47712304-G-A p.Arg319Cys missense AGBL2 3 83300 3.60144E-5 41650 0 NA
11-47712336-C-T p.Arg308His missense AGBL2 1 83216 1.20169E-5 41608 0 2.48143E-5
11-47712337-G-A p.Arg308Cys missense AGBL2 7 83212 8.41225E-5 41606 0 6.3743E-5
11-47712342-T-G p.Tyr306Ser missense AGBL2 1 83208 1.20181E-5 41604 0 NA
11-47712354-G-A p.Thr302Ile missense AGBL2 1 83132 1.20291E-5 41566 0 3.18573E-5
11-47712374-G-A p.Asp295Asp synonymous AGBL2 1 82932 1.20581E-5 41466 0 NA
11-47712381-C-T p.Arg293Gln missense AGBL2 3 82836 3.62161E-5 41418 0 3.36412E-5
11-47712381-C-A p.Arg293Leu missense AGBL2 2 82836 2.41441E-5 41418 0 3.19305E-5
11-47712382-G-A p.Arg293* stop_gained AGBL2 2 82806 2.41528E-5 41403 0 1.68364E-5
11-47712392-T-A p.Glu289Asp missense AGBL2 1 82664 1.20972E-5 41332 0 NA
11-47712401-A-G p.Tyr286Tyr synonymous AGBL2 1 82482 1.21239E-5 41241 0 2.4519E-5
11-47712413-G-A c.849-3C>T splice_region AGBL2 8 82190 9.73354E-5 41095 0 3.4943E-5
11-47713647-T-C c.848+8A>G splice_region AGBL2 1 82972 1.20523E-5 41486 0 3.99712E-6
11-47713654-C-T c.848+1G>A splice_donor AGBL2 1 83084 1.2036E-5 41542 0 3.99135E-6
11-47713656-C-T p.Val283Ile missense+splice_region AGBL2 1 83118 1.20311E-5 41559 0 5.03525E-4
11-47713664-G-A p.Ala280Val missense AGBL2 1 83184 1.20215E-5 41592 0 NA
11-47713677-T-C p.Asn276Asp missense AGBL2 1 83234 1.20143E-5 41617 0 8.23886E-6
11-47713678-C-A p.Gly275Gly synonymous AGBL2 1 83230 1.20149E-5 41615 0 NA
11-47713679-C-T p.Gly275Glu missense AGBL2 8 83234 9.61146E-5 41617 0 4.94315E-5
11-47713704-G-C p.Leu267Val missense AGBL2 1 83274 1.20085E-5 41637 0 NA
11-47713722-G-C p.Pro261Ala missense AGBL2 2 83298 2.40102E-5 41649 0 NA
11-47713734-T-G p.Thr257Pro missense AGBL2 1 83276 1.20083E-5 41638 0 NA
11-47713738-A-G p.Ala255Ala synonymous AGBL2 1 83290 1.20062E-5 41645 0 3.19101E-5
11-47713747-C-T p.Lys252Lys synonymous AGBL2 2 83288 2.40131E-5 41644 0 NA
11-47713760-C-T p.Arg248Gln missense AGBL2 2 83276 2.40165E-5 41638 0 NA
11-47713761-G-A p.Arg248* stop_gained AGBL2 3 83270 3.60274E-5 41635 0 6.39018E-5
11-47713781-C-A p.Ser241Ile missense AGBL2 1 83242 1.20132E-5 41621 0 NA
11-47713809-C-T c.695-1G>A splice_acceptor AGBL2 2 83168 2.40477E-5 41584 0 8.23913E-6
11-47713812-C-A c.695-4G>T splice_region AGBL2 9 83158 1.08228E-4 41579 0 3.98096E-6
11-47720992-C-A c.694+6G>T splice_region AGBL2 1 80868 1.23658E-5 40434 0 NA
11-47721008-T-C p.Gln228Gln synonymous AGBL2 272 81540 0.00333579 40770 8 0.00837704
11-47721049-G-A p.Pro215Ser missense AGBL2 7 82280 8.50753E-5 41140 0 1.15367E-4
11-47721049-G-C p.Pro215Ala missense AGBL2 1 82280 1.21536E-5 41140 0 NA
11-47721052-C-A p.Val214Leu missense AGBL2 2 82398 2.42724E-5 41199 0 NA
11-47721067-T-C p.Lys209Glu missense AGBL2 1 82302 1.21504E-5 41151 0 NA
11-47721071-C-CTGAT p.Pro208fs frameshift AGBL2 1 82302 1.21504E-5 41151 0 NA
11-47721073-G-A p.Gln207* stop_gained AGBL2 3 82242 3.64777E-5 41121 0 4.12154E-5
11-47721085-C-T p.Glu203Lys missense AGBL2 1 82208 1.21643E-5 41104 0 NA
11-47721095-T-A p.Pro199Pro synonymous AGBL2 1 82040 1.21892E-5 41020 0 NA
11-47721097-G-A p.Pro199Ser missense AGBL2 1 81980 1.21981E-5 40990 0 4.10297E-6
11-47721106-C-T c.587-1G>A splice_acceptor AGBL2 1 81748 1.22327E-5 40874 0 NA
11-47726102-A-T p.His193Gln missense AGBL2 2 83212 2.4035E-5 41606 0 3.30207E-5
11-47726125-C-G p.Glu186Gln missense AGBL2 1 83334 1.19999E-5 41667 0 NA
11-47726127-C-T p.Cys185Tyr missense AGBL2 35 83336 4.19987E-4 41668 0 9.88142E-4
11-47726134-T-C p.Ile183Val missense AGBL2 30 83344 3.59954E-4 41672 0 0.00151057
11-47726138-C-T p.Trp181* stop_gained AGBL2 1 83362 1.19959E-5 41681 0 NA
11-47726152-G-A p.Gln177* stop_gained AGBL2 2 83374 2.39883E-5 41687 0 NA
11-47726154-A-C p.Leu176Arg missense AGBL2 346 83360 0.00415067 41680 6 0.00993757
11-47726156-T-A p.Pro175Pro synonymous AGBL2 2 83370 2.39894E-5 41685 0 NA
11-47726183-G-C p.Leu166Leu synonymous AGBL2 2 83364 2.39912E-5 41682 0 8.23655E-6
11-47726189-T-TTCCTCTCTTC p.Glu165fs frameshift AGBL2 1 83360 1.19962E-5 41680 0 NA
11-47726192-G-A p.Pro163Pro synonymous AGBL2 1 83354 1.1997E-5 41677 0 7.95292E-6
11-47726193-G-C p.Pro163Arg missense AGBL2 1 83356 1.19967E-5 41678 0 NA
11-47726205-C-T p.Arg159His missense AGBL2 33 83342 3.95959E-4 41671 0 3.14143E-4
11-47726206-G-A p.Arg159Cys missense AGBL2 1 83340 1.1999E-5 41670 0 3.18634E-5
11-47726215-C-T p.Val156Ile missense AGBL2 1 83330 1.20005E-5 41665 0 NA
11-47726218-C-T p.Glu155Lys missense AGBL2 1 83320 1.20019E-5 41660 0 3.97643E-6
11-47726224-ACTCAT-A p.Asp151fs frameshift AGBL2 11 83322 1.32018E-4 41661 0 2.231E-4
11-47726227-C-A p.Glu152* stop_gained AGBL2 2 83324 2.40027E-5 41662 0 1.98829E-5
11-47726262-A-G p.Leu140Ser missense AGBL2 4 83244 4.80515E-5 41622 0 NA
11-47726274-T-A p.His136Leu missense AGBL2 232 83198 0.00278853 41599 1 0.00199469
11-47727090-C-T p.Arg128Gln missense AGBL2 5 8518 5.86992E-4 4259 0 0.00184574
11-47727148-G-A p.Leu109Phe missense AGBL2 1 16446 6.08051E-5 8223 0 NA
11-47727153-C-T p.Arg107His missense AGBL2 1 16228 6.16219E-5 8114 0 6.78794E-5
11-47727155-C-A p.Trp106Cys missense AGBL2 1 17216 5.80855E-5 8608 0 5.83107E-5
11-47727181-G-A p.His98Tyr missense AGBL2 12 29442 4.07581E-4 14721 0 4.9616E-4
11-47727193-C-CA c.287-8dupT splice_region AGBL2 1845 35594 0.0518346 17797 154 0.359703
11-47727193-CA-C c.287-8delT splice_region AGBL2 264 37396 0.00705958 18698 2 0.170863
11-47727193-C-CAA c.287-9_287-8dupTT splice_region AGBL2 802 37852 0.0211878 18926 53 0.259203
11-47727193-CAAAAA-C c.287-12_287-8delTTTTT splice_region AGBL2 15 38614 3.8846E-4 19307 0 NA
11-47727193-CAAA-C c.287-10_287-8delTTT splice_region AGBL2 53 38470 0.0013777 19235 0 0.0140093
11-47727193-CAAAA-C c.287-11_287-8delTTTT splice_region AGBL2 12 38574 3.1109E-4 19287 0 NA
11-47727193-CAA-C c.287-9_287-8delTT splice_region AGBL2 108 38270 0.00282205 19135 0 0.0460929
11-47727193-C-CAAAAAA c.287-13_287-8dupTTTTTT splice_region AGBL2 12 38608 3.10816E-4 19304 0 NA
11-47727193-C-CAAAAA c.287-12_287-8dupTTTTT splice_region AGBL2 2 38616 5.1792E-5 19308 0 NA
11-47727193-C-CAAAAAAAAAAAA c.287-19_287-8dupTTTTTTTTTTTT splice_region AGBL2 2 38616 5.1792E-5 19308 0 NA
11-47727193-C-CAAA c.287-10_287-8dupTTT splice_region AGBL2 70 38562 0.00181526 19281 3 0.0242559
11-47727193-C-CAAAAAAAAA c.287-16_287-8dupTTTTTTTTT splice_region AGBL2 4 38612 1.03595E-4 19306 0 NA
11-47727193-C-CAAAAAAAA c.287-15_287-8dupTTTTTTTT splice_region AGBL2 9 38608 2.33112E-4 19304 0 NA
11-47727193-C-CAAAAAAAAAAAAAAAA c.287-23_287-8dupTTTTTTTTTTTTTTTT splice_region AGBL2 5 38616 1.2948E-4 19308 0 NA
11-47727193-C-CAAAAAAAAAAAAAAAAAAAAA c.287-8_287-7insTTTTTTTTTTTTTTTTTTTTT splice_region AGBL2 1 38614 2.58973E-5 19307 0 NA
11-47727193-C-CAAAAAAAAAAAAAAAAAA c.287-8_287-7insTTTTTTTTTTTTTTTTTT splice_region AGBL2 2 38616 5.1792E-5 19308 0 NA
11-47727193-C-CAAAAAAAAAAAAA c.287-20_287-8dupTTTTTTTTTTTTT splice_region AGBL2 6 38610 1.554E-4 19305 0 NA
11-47727193-C-CAAAAAAA c.287-14_287-8dupTTTTTTT splice_region AGBL2 16 38606 4.14443E-4 19303 0 5.9952E-4
11-47727193-C-CAAAAAAAAAAAAAAAAA c.287-8_287-7insTTTTTTTTTTTTTTTTT splice_region AGBL2 2 38616 5.1792E-5 19308 0 NA
11-47727193-C-CAAAA c.287-11_287-8dupTTTT splice_region AGBL2 4 38612 1.03595E-4 19306 0 NA
11-47727193-C-CAAAAAAAAAAAAAAA c.287-22_287-8dupTTTTTTTTTTTTTTT splice_region AGBL2 3 38616 7.7688E-5 19308 0 NA
11-47727193-C-CAAAAAAAAAAAAAAAAAAAA c.287-8_287-7insTTTTTTTTTTTTTTTTTTTT splice_region AGBL2 2 38612 5.17974E-5 19306 0 NA
11-47727193-C-CAAAAAAAAAAA c.287-18_287-8dupTTTTTTTTTTT splice_region AGBL2 1 38618 2.58947E-5 19309 0 NA
11-47727193-C-CAAAAAAAAAAAAAAAAAAAAAA c.287-8_287-7insTTTTTTTTTTTTTTTTTTTTTT splice_region AGBL2 1 38618 2.58947E-5 19309 0 NA
11-47727193-C-CAAAAAAAAAAAAAAAAAAA c.287-8_287-7insTTTTTTTTTTTTTTTTTTT splice_region AGBL2 1 38618 2.58947E-5 19309 0 NA
11-47727193-C-CAAAAAAAAAAAAAA c.287-21_287-8dupTTTTTTTTTTTTTT splice_region AGBL2 5 38612 1.29493E-4 19306 0 NA
11-47727193-CAAAAAA-C c.287-13_287-8delTTTTTT splice_region AGBL2 2 38618 5.17893E-5 19309 0 NA
11-47727193-C-CAAAAAAAAAAAAAAAAAAAAAAA c.287-8_287-7insTTTTTTTTTTTTTTTTTTTTTTT splice_region AGBL2 1 38618 2.58947E-5 19309 0 NA
11-47727431-C-T p.Glu91Lys missense AGBL2 9 83000 1.08434E-4 41500 0 9.58099E-5
11-47727437-G-T p.Gln89Lys missense AGBL2 2 83004 2.40952E-5 41502 0 2.47097E-5
11-47727441-G-A p.His87His synonymous AGBL2 57 83006 6.86697E-4 41503 0 0.00181934
11-47727451-G-C p.Ser84* stop_gained AGBL2 1 83014 1.20462E-5 41507 0 3.19122E-5
11-47727456-T-C p.Leu82Leu synonymous AGBL2 1 82994 1.20491E-5 41497 0 NA
11-47727463-A-C p.Ile80Ser missense AGBL2 2 82992 2.40987E-5 41496 0 3.19224E-5
11-47727470-C-T c.233-1G>A splice_acceptor AGBL2 3 82962 3.61611E-5 41481 0 3.18959E-5
11-47727473-GA-G c.233-5delT splice_region AGBL2 2 82968 2.41057E-5 41484 0 NA
11-47727476-A-G c.233-7T>C splice_region AGBL2 1 82944 1.20563E-5 41472 0 7.16207E-5
11-47731760-T-A n.99+6A>T splice_region AGBL2 1 61194 1.63415E-5 30597 0 NA
11-47731921-T-C c.232+8A>G splice_region AGBL2 2 82728 2.41756E-5 41364 0 8.23791E-6
11-47731924-C-T c.232+5G>A splice_region AGBL2 1 82774 1.20811E-5 41387 0 6.25E-4
11-47731930-T-C p.Leu77Leu splice_region+synonymous AGBL2 9 82874 1.08599E-4 41437 0 3.82312E-4
11-47731941-C-G p.Glu74Gln missense AGBL2 151 83034 0.00181853 41517 2 0.00372659
11-47731944-T-C p.Lys73Glu missense AGBL2 1 83060 1.20395E-5 41530 0 NA
11-47731963-C-G p.Leu66Phe missense AGBL2 400 83238 0.0048055 41619 9 0.0206653
11-47731971-CT-C p.Asp64fs frameshift AGBL2 21 83268 2.52198E-4 41634 0 6.37349E-4
11-47731981-A-T p.Leu60Leu synonymous AGBL2 1 83292 1.2006E-5 41646 0 8.23655E-6
11-47731985-G-C p.Ser59Cys missense AGBL2 2 83308 2.40073E-5 41654 0 NA
11-47731995-A-G p.Leu56Leu synonymous AGBL2 1 83314 1.20028E-5 41657 0 1.98821E-5
11-47732001-A-G p.Cys54Arg missense AGBL2 4 83316 4.801E-5 41658 0 NA
11-47732018-C-T p.Arg48Gln missense AGBL2 1 83308 1.20036E-5 41654 0 7.95311E-5
11-47732030-T-C p.His44Arg missense AGBL2 2 83302 2.4009E-5 41651 0 NA
11-47732030-T-G p.His44Pro missense AGBL2 1 83302 1.20045E-5 41651 0 NA
11-47732032-C-T p.Thr43Thr synonymous AGBL2 1 83292 1.2006E-5 41646 0 2.78359E-5
11-47732033-G-A p.Thr43Met missense AGBL2 3 83290 3.60187E-5 41645 0 3.18492E-5
11-47732046-G-A p.Pro39Ser missense AGBL2 3 83250 3.6036E-5 41625 0 9.55414E-5
11-47732058-T-G p.Arg35Arg synonymous AGBL2 4 83202 4.80758E-5 41601 0 5.03525E-4
11-47732071-T-G c.98-8A>C splice_region AGBL2 1 83114 1.20317E-5 41557 0 NA
11-47732245-C-T c.*116+5G>A splice_region AGBL2 1 50748 1.97052E-5 25374 0 NA
11-47732247-C-A c.*116+3G>T splice_region AGBL2 1 49868 2.00529E-5 24934 0 NA
11-47732404-G-A p.Leu50Phe missense AGBL2 4 9784 4.08831E-4 4892 0 0.00148205
11-47732460-TC-T c.98-7delG splice_region AGBL2 2 8690 2.3015E-4 4345 0 0.0223254
11-47732461-CA-C c.98-8delT splice_region AGBL2 3111 7324 0.424768 3662 281 0.834915
11-47732461-C-CA c.98-8_98-7insT splice_region AGBL2 38 8554 0.00444237 4277 1 0.0344458
11-47732461-CAA-C c.98-9_98-8delTT splice_region AGBL2 289 8500 0.034 4250 1 0.201882
11-47732461-CAAA-C c.98-10_98-8delTTT splice_region AGBL2 17 8554 0.00198737 4277 0 0.0856102
11-47732461-CAAAA-C c.98-11_98-8delTTTT splice_region AGBL2 1 8558 1.1685E-4 4279 0 0.016697
11-47732461-C-CAA c.98-8_98-7insTT splice_region AGBL2 7 8560 8.17757E-4 4280 0 2.04123E-4
11-47735629-T-C n.462A>G splice_region AGBL2 15 48976 3.06272E-4 24488 0 0.00108384
11-47735704-G-A n.393-6C>T splice_region AGBL2 2 71236 2.80757E-5 35618 0 NA
11-47735846-G-T p.Gly29Gly synonymous AGBL2 1 83136 1.20285E-5 41568 0 3.97719E-6
11-47735849-A-G p.Tyr28Tyr synonymous AGBL2 7 83132 8.42034E-5 41566 0 4.77247E-5
11-47735865-C-A p.Arg23Leu missense AGBL2 1 83174 1.2023E-5 41587 0 8.24008E-6
11-47735866-G-A p.Arg23Cys missense AGBL2 1 83152 1.20262E-5 41576 0 NA
11-47735870-C-T p.Met1? start_lost AGBL2 1 83186 1.20213E-5 41593 0 3.97703E-6
11-47735871-A-G p.Met1? start_lost AGBL2 1 83186 1.20213E-5 41593 0 8.23954E-6
11-47735890-C-T p.Asp15Asn missense AGBL2 1 83190 1.20207E-5 41595 0 NA
11-47735891-A-G p.Pro14Pro synonymous AGBL2 17 83184 2.04366E-4 41592 0 1.91363E-4
11-47735899-T-A p.Thr12Ser missense+splice_region AGBL2 8 83172 9.61862E-5 41586 0 9.88908E-5
11-47735906-A-G c.34-7T>C splice_region AGBL2 20 83164 2.40489E-4 41582 1 9.89006E-5
11-47735922-A-C c.-50T>G 5_prime_UTR_premature_start_codon_gain AGBL2 1 83116 1.20314E-5 41558 0 NA
11-47735949-T-C c.-77A>G 5_prime_UTR_premature_start_codon_gain AGBL2 1 82812 1.20755E-5 41406 0 6.26566E-4
11-47735974-G-A c.-102C>T 5_prime_UTR_premature_start_codon_gain AGBL2 1 82384 1.21383E-5 41192 0 NA
11-47736168-A-G c.33+2T>C splice_donor AGBL2 1 83302 1.20045E-5 41651 0 NA
11-47736173-C-T p.Lys10Lys synonymous AGBL2 1 83292 1.2006E-5 41646 0 NA
11-47736201-A-G p.Met1? start_lost AGBL2 2 83276 2.40165E-5 41638 0 NA
11-47736236-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain AGBL2 2 83072 2.40755E-5 41536 0 3.18471E-5
11-47736243-T-C c.-41A>G 5_prime_UTR_premature_start_codon_gain AGBL2 2 82930 2.41167E-5 41465 0 8.23655E-5
11-47736258-A-T c.-56T>A 5_prime_UTR_premature_start_codon_gain AGBL2 2 82590 2.4216E-5 41295 0 NA
11-47736393-C-A c.-101+1G>T splice_donor AGBL2 1 55130 1.81389E-5 27565 0 3.18593E-5
11-47736408-G-T c.-115C>A 5_prime_UTR_premature_start_codon_gain AGBL2 1 50118 1.99529E-5 25059 0 NA
11-47736488-A-G c.-195T>C 5_prime_UTR_premature_start_codon_gain AGBL2 353 22678 0.0155657 11339 0 0.0337902
11-47736540-G-C c.-247C>G 5_prime_UTR_premature_start_codon_gain AGBL2 6 9324 6.43501E-4 4662 0 6.37267E-5