Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-134672636-A-C c.-45-4A>C splice_region AGBL3 1 79176 1.26301E-5 39588 0 NA
7-134672686-T-C p.Met1? start_lost AGBL3 1 81218 1.23125E-5 40609 0 NA
7-134672688-T-A p.Ser2Thr missense AGBL3 1 81232 1.23104E-5 40616 0 NA
7-134672700-G-T p.Glu6* stop_gained AGBL3 1 81298 1.23004E-5 40649 0 6.47559E-6
7-134672700-G-A p.Glu6Lys missense AGBL3 2 81298 2.46009E-5 40649 0 NA
7-134672709-G-C p.Asp9His missense AGBL3 3 81312 3.68949E-5 40656 0 6.37186E-5
7-134672709-G-A p.Asp9Asn missense AGBL3 1 81312 1.22983E-5 40656 0 NA
7-134672726-A-G p.Thr14Thr synonymous AGBL3 1 81204 1.23147E-5 40602 0 6.59378E-6
7-134672731-G-A p.Ser16Asn missense AGBL3 1 81094 1.23314E-5 40547 0 NA
7-134672742-G-A p.Glu20Lys missense AGBL3 1 80856 1.23677E-5 40428 0 1.33692E-5
7-134672746-C-T p.Ser21Leu missense+splice_region AGBL3 62 80708 7.68201E-4 40354 0 0.00255102
7-134672747-G-A p.Ser21Ser splice_region+synonymous AGBL3 1 80608 1.24057E-5 40304 0 NA
7-134672752-G-A c.63+5G>A splice_region AGBL3 1 80526 1.24183E-5 40263 0 NA
7-134673996-T-G c.64-5T>G splice_region AGBL3 1 80082 1.24872E-5 40041 0 NA
7-134674003-TGAG-T p.Glu23del disruptive_inframe_deletion AGBL3 1 80428 1.24335E-5 40214 0 NA
7-134674005-A-G p.Glu23Gly missense AGBL3 2 80530 2.48355E-5 40265 0 6.69407E-6
7-134674025-G-A p.Val30Ile missense AGBL3 1 81062 1.23362E-5 40531 0 9.94431E-5
7-134674031-G-A p.Glu32Lys missense AGBL3 1 81108 1.23292E-5 40554 0 NA
7-134674042-TCGGTGTGCACTTTTAA-T p.Arg36fs frameshift AGBL3 6 81128 7.39572E-5 40564 0 9.55475E-5
7-134674043-C-T p.Arg36Trp missense AGBL3 1 81094 1.23314E-5 40547 0 3.18695E-5
7-134674050-C-T p.Ala38Val missense AGBL3 8 81082 9.86656E-5 40541 0 2.60998E-5
7-134674056-T-C p.Leu40Ser missense AGBL3 2 81042 2.46786E-5 40521 0 4.90677E-5
7-134678243-G-C c.125-1G>C splice_acceptor AGBL3 1 82504 1.21206E-5 41252 0 NA
7-134678250-C-G p.Ser44Cys missense AGBL3 92 82576 0.00111413 41288 0 0.002457
7-134678250-CTT-C p.Phe45fs frameshift AGBL3 3 82588 3.63249E-5 41294 0 3.89522E-4
7-134678253-T-A p.Phe45Tyr missense AGBL3 22334 81510 0.274003 40755 3068 0.388206
7-134678253-T-C p.Phe45Ser missense AGBL3 1 82624 1.2103E-5 41312 0 NA
7-134678254-T-C p.Phe45Phe synonymous AGBL3 1 82632 1.21018E-5 41316 0 3.18573E-5
7-134678256-G-T p.Gly46Val missense AGBL3 3 82638 3.63029E-5 41319 0 1.31546E-5
7-134678258-G-A p.Asp47Asn missense AGBL3 1 82632 1.21018E-5 41316 0 4.68472E-5
7-134678265-T-A p.Phe49Tyr missense AGBL3 4 82650 4.83969E-5 41325 0 NA
7-134678268-T-TC p.Arg52fs frameshift AGBL3 1 82658 1.2098E-5 41329 0 4.63349E-5
7-134678269-C-T p.Phe50Phe synonymous AGBL3 9 82668 1.08869E-4 41334 0 6.25E-4
7-134678273-C-T p.Arg52Trp missense AGBL3 582 82660 0.00704089 41330 23 0.0107562
7-134678274-G-A p.Arg52Gln missense AGBL3 1 82672 1.2096E-5 41336 0 1.28159E-5
7-134678290-A-G p.Leu57Leu synonymous AGBL3 1 82714 1.20899E-5 41357 0 6.3614E-6
7-134678307-G-A p.Gly63Glu missense AGBL3 5 82724 6.0442E-5 41362 0 2.72898E-4
7-134678308-G-A p.Gly63Gly synonymous AGBL3 1 82724 1.20884E-5 41362 0 3.1839E-5
7-134678311-A-T p.Arg64Ser missense AGBL3 1 82726 1.20881E-5 41363 0 NA
7-134678315-G-A p.Val66Met missense AGBL3 1 82722 1.20887E-5 41361 0 NA
7-134678321-C-G p.Arg68Gly missense AGBL3 1 82720 1.2089E-5 41360 0 NA
7-134678321-C-T p.Arg68Cys missense AGBL3 1 82720 1.2089E-5 41360 0 6.33513E-6
7-134678322-G-A p.Arg68His missense AGBL3 2 82722 2.41774E-5 41361 0 4.47588E-5
7-134678327-C-T p.Arg70Cys missense AGBL3 406 82720 0.00490812 41360 8 0.00707006
7-134678328-G-A p.Arg70His missense AGBL3 1 82718 1.20893E-5 41359 0 4.45871E-5
7-134678334-C-G p.Pro72Arg missense AGBL3 6 82728 7.25268E-5 41364 0 1.77715E-4
7-134678345-T-C p.Tyr76His missense AGBL3 3 82722 3.6266E-5 41361 0 NA
7-134678346-A-G p.Tyr76Cys missense AGBL3 2 82730 2.4175E-5 41365 0 1.26234E-5
7-134678354-T-C p.Ser79Pro missense AGBL3 1 82726 1.20881E-5 41363 0 NA
7-134678362-TG-T p.Gly82fs frameshift AGBL3 2 82722 2.41774E-5 41361 0 6.31544E-6
7-134678364-G-A p.Gly82Asp missense AGBL3 1 82722 1.20887E-5 41361 0 NA
7-134678364-G-T p.Gly82Val missense AGBL3 1 82720 1.2089E-5 41360 0 3.18492E-5
7-134678365-TCCATTGAGCCCAACACGGTGGCCATA-T p.Ser85fs frameshift AGBL3 1 82720 1.2089E-5 41360 0 NA
7-134678368-A-G p.Pro83Pro synonymous AGBL3 1 82714 1.20899E-5 41357 0 6.3066E-6
7-134678369-T-C p.Leu84Leu synonymous AGBL3 3 82716 3.62687E-5 41358 0 5.24338E-4
7-134678374-C-T p.Ser85Ser synonymous AGBL3 2 82724 2.41768E-5 41362 0 0.00125
7-134678381-C-T p.Arg88Trp missense AGBL3 5 82724 6.0442E-5 41362 0 6.25E-4
7-134678382-G-T p.Arg88Leu missense AGBL3 1 82722 1.20887E-5 41361 0 6.34824E-6
7-134678397-G-A p.Cys93Tyr missense AGBL3 4 82706 4.83641E-5 41353 0 6.34743E-6
7-134678402-G-A p.Val95Ile missense AGBL3 1 82700 1.20919E-5 41350 0 6.37081E-6
7-134678407-C-T p.Ile96Ile synonymous AGBL3 3 82666 3.62906E-5 41333 0 6.40262E-6
7-134678408-G-A p.Asp97Asn missense AGBL3 2 82662 2.41949E-5 41331 0 1.28002E-5
7-134694785-T-A c.311-8T>A splice_region AGBL3 1 9144 1.09361E-4 4572 0 NA
7-134694812-T-TGAGACTCACCAGGCTGGAGC p.Ser112fs frameshift AGBL3 1 8814 1.13456E-4 4407 0 3.25055E-5
7-134694832-C-T p.Ala117Val missense AGBL3 1 8578 1.16577E-4 4289 0 0.00126422
7-134694833-G-A p.Ala117Ala synonymous AGBL3 1 8598 1.16306E-4 4299 0 2.59808E-4
7-134694838-GGT-G p.Cys120fs frameshift AGBL3 1 8538 1.17123E-4 4269 0 NA
7-134694838-G-T p.Trp119Leu missense AGBL3 1 8540 1.17096E-4 4270 0 6.26632E-5
7-134694842-C-CAT p.Asp121fs frameshift AGBL3 1 8440 1.18483E-4 4220 0 NA
7-134694849-G-A p.Gly123Ser missense AGBL3 1 8384 1.19275E-4 4192 0 2.19356E-5
7-134694882-C-T p.Arg134* stop_gained AGBL3 1 7930 1.26103E-4 3965 0 3.2039E-5
7-134694888-G-A p.Ala136Thr missense AGBL3 200 7688 0.0260146 3844 3 0.0299304
7-134694912-A-T p.Arg144* stop_gained AGBL3 1 7346 1.36129E-4 3673 0 NA
7-134694914-A-G p.Arg144Arg synonymous AGBL3 1 7264 1.37665E-4 3632 0 1.80109E-5
7-134694925-G-A p.Arg148His missense AGBL3 6 7024 8.54214E-4 3512 0 0.0129274
7-134694927-G-A p.Val149Met missense AGBL3 13 6488 0.0020037 3244 0 0.00226808
7-134694939-T-C p.Ser153Pro missense AGBL3 4620 4822 0.958109 2411 2244 0.981343
7-134694967-C-T p.Thr162Met missense AGBL3 1 5788 1.72771E-4 2894 0 0.00806452
7-134695013-G-A p.Ser177Ser synonymous AGBL3 2 3280 6.09756E-4 1640 0 5.09338E-4
7-134701811-CCTT-C p.Ser108del disruptive_inframe_deletion AGBL3 1 81976 1.21987E-5 40988 0 NA
7-134701830-T-C p.Val113Ala missense AGBL3 2 82160 2.43427E-5 41080 0 NA
7-134701831-G-A p.Val113Val synonymous AGBL3 31 82162 3.77303E-4 41081 0 3.47626E-4
7-134701835-A-T p.Ile115Phe missense AGBL3 3 82192 3.64999E-5 41096 0 6.31592E-6
7-134701835-A-G p.Ile115Val missense AGBL3 1 82192 1.21666E-5 41096 0 3.1835E-5
7-134701842-C-T p.Thr117Met missense AGBL3 2 82184 2.43356E-5 41092 0 6.37024E-5
7-134701843-G-A p.Thr117Thr synonymous AGBL3 1 82168 1.21702E-5 41084 0 1.59337E-4
7-134701845-G-A p.Gly118Asp missense AGBL3 1 82226 1.21616E-5 41113 0 1.2615E-5
7-134701855-G-A p.Thr121Thr synonymous AGBL3 8 82192 9.73331E-5 41096 0 6.37227E-5
7-134701856-G-C p.Glu122Gln missense AGBL3 79244 82100 0.965213 41050 38444 0.985625
7-134701864-T-G p.Leu124Leu synonymous AGBL3 1 82224 1.21619E-5 41112 0 NA
7-134701888-T-C p.Thr132Thr synonymous AGBL3 1 82116 1.21779E-5 41058 0 NA
7-134701892-G-T p.Val134Phe missense AGBL3 7 82052 8.53118E-5 41026 0 5.66508E-5
7-134701928-CAT-C p.His84fs frameshift AGBL3 3 81300 3.69004E-5 40650 0 6.31202E-6
7-134701930-T-G p.His84Gln missense AGBL3 2 81176 2.46378E-5 40588 0 NA
7-134701936-T-C p.Ala86Ala synonymous AGBL3 2 80888 2.47255E-5 40444 0 NA
7-134701937-G-A p.Val87Ile missense AGBL3 1 80786 1.23784E-5 40393 0 NA
7-134701941-AAT-A p.Tyr89fs frameshift AGBL3 3 80592 3.72245E-5 40296 0 1.3533E-4
7-134701952-G-A p.Val92Ile missense AGBL3 1 79768 1.25364E-5 39884 0 NA
7-134701952-G-C p.Val92Leu missense AGBL3 1 79768 1.25364E-5 39884 0 NA
7-134717589-C-A c.419-6C>A splice_region AGBL3 1 82408 1.21347E-5 41204 0 NA
7-134717609-T-C p.Cys145Arg missense AGBL3 2 82556 2.4226E-5 41278 0 9.55962E-5
7-134717617-G-A p.Val147Val synonymous AGBL3 2 82610 2.42101E-5 41305 0 4.74338E-5
7-134717622-C-G p.Ser149Cys missense AGBL3 1 82632 1.21018E-5 41316 0 NA
7-134717624-C-T p.Arg150* stop_gained AGBL3 1 82634 1.21016E-5 41317 0 1.40148E-4
7-134717625-G-A p.Arg150Gln missense AGBL3 17 82630 2.05736E-4 41315 0 8.33034E-5
7-134717628-T-C p.Val151Ala missense AGBL3 1 82644 1.21001E-5 41322 0 9.55718E-5
7-134717639-C-T p.Arg155* stop_gained AGBL3 1 82664 1.20972E-5 41332 0 3.18715E-5
7-134717640-G-A p.Arg155Gln missense AGBL3 3 82666 3.62906E-5 41333 0 2.54926E-5
7-134717646-C-T p.Pro157Leu missense AGBL3 5 82688 6.04683E-5 41344 0 6.37511E-5
7-134717648-T-C p.Leu158Leu synonymous AGBL3 16 82696 1.9348E-4 41348 0 2.23029E-4
7-134717656-G-A p.Gln160Gln synonymous AGBL3 1011 82686 0.012227 41343 30 0.0235699
7-134717665-T-C p.Asp163Asp synonymous AGBL3 1 82706 1.2091E-5 41353 0 NA
7-134717669-C-T p.Arg165Cys missense AGBL3 5 82702 6.0458E-5 41351 0 4.47307E-5
7-134717670-G-A p.Arg165His missense AGBL3 8 82706 9.67282E-5 41353 0 6.25E-4
7-134717679-C-T p.Thr168Ile missense AGBL3 2 82704 2.41826E-5 41352 0 6.36983E-5
7-134717683-G-A p.Leu169Leu synonymous AGBL3 1 82708 1.20907E-5 41354 0 NA
7-134717697-G-A p.Arg174Lys missense AGBL3 1 82704 1.20913E-5 41352 0 NA
7-134717699-T-C p.Phe175Leu missense AGBL3 2 82704 2.41826E-5 41352 0 NA
7-134717711-A-G p.Asn179Asp missense AGBL3 1 82686 1.20939E-5 41343 0 6.35227E-6
7-134717729-A-G p.Lys185Glu missense AGBL3 2 82588 2.42166E-5 41294 0 NA
7-134717740-T-C c.557+7T>C splice_region AGBL3 10 82516 1.21189E-4 41258 0 2.46015E-4
7-134718905-A-G p.Glu188Gly missense AGBL3 1 81836 1.22196E-5 40918 0 6.78702E-6
7-134718909-C-T p.Tyr189Tyr synonymous AGBL3 10 81944 1.22035E-4 40972 0 1.18878E-4
7-134718910-G-A p.Glu190Lys missense AGBL3 10 81928 1.22058E-4 40964 0 6.3743E-5
7-134718912-A-C p.Glu190Asp missense AGBL3 1 81986 1.21972E-5 40993 0 6.25E-4
7-134718918-A-C p.Gln192His missense AGBL3 2 82056 2.43736E-5 41028 0 1.29971E-5
7-134718918-A-G p.Gln192Gln synonymous AGBL3 2 82056 2.43736E-5 41028 0 NA
7-134718928-C-T p.Arg196Cys missense AGBL3 1 82046 1.21883E-5 41023 0 9.55536E-5
7-134718943-A-C p.Thr201Pro missense AGBL3 1 82062 1.21859E-5 41031 0 NA
7-134718946-A-G p.Asn202Asp missense AGBL3 5 82056 6.0934E-5 41028 0 3.18512E-5
7-134718954-C-T p.His204His synonymous AGBL3 232 82046 0.00282768 41023 6 0.00614806
7-134718958-C-A p.Gln206Lys missense AGBL3 3 82058 3.65595E-5 41029 0 6.40697E-6
7-134718967-TA-T p.Tyr209fs frameshift AGBL3 2 82074 2.43683E-5 41037 0 6.39934E-6
7-134718989-G-A p.Arg216Gln missense AGBL3 6 82206 7.29874E-5 41103 0 4.60278E-5
7-134718994-G-A p.Gly218Arg missense AGBL3 1 82266 1.21557E-5 41133 0 6.37771E-6
7-134719011-C-G p.Phe223Leu missense AGBL3 1 82374 1.21398E-5 41187 0 6.36813E-6
7-134719016-T-C p.Ile225Thr missense AGBL3 2 82390 2.42748E-5 41195 0 0.00121951
7-134719051-C-T p.Arg237Trp missense AGBL3 3 82556 3.6339E-5 41278 0 9.09504E-5
7-134719052-G-A p.Arg237Gln missense AGBL3 5 82564 6.05591E-5 41282 0 6.37186E-5
7-134719055-G-T p.Gly238Val missense AGBL3 7 82550 8.47971E-5 41275 0 5.08945E-5
7-134719057-AT-A p.Met239fs frameshift AGBL3 4 82548 4.84567E-5 41274 0 3.1841E-5
7-134719058-T-C p.Met239Thr missense AGBL3 1 82548 1.21142E-5 41274 0 NA
7-134719060-C-T p.Arg240Cys missense AGBL3 5 82556 6.0565E-5 41278 0 1.27267E-5
7-134719061-G-A p.Arg240His missense AGBL3 5 82554 6.05664E-5 41277 0 1.81851E-4
7-134719068-G-A p.Leu242Leu synonymous AGBL3 3 82576 3.63302E-5 41288 0 6.37267E-5
7-134719078-G-A p.Glu246Lys missense AGBL3 1 82578 1.21098E-5 41289 0 6.36983E-6
7-134719101-C-T p.His253His synonymous AGBL3 1 82524 1.21177E-5 41262 0 NA
7-134719118-T-C p.Ile259Thr missense AGBL3 1 82432 1.21312E-5 41216 0 3.18573E-5
7-134719131-C-A p.Ile263Ile synonymous AGBL3 3 82404 3.6406E-5 41202 0 9.55657E-5
7-134719143-G-A p.Arg267Arg synonymous AGBL3 3 82366 3.64228E-5 41183 0 NA
7-134719163-G-A p.Gly274Glu missense AGBL3 1 82392 1.21371E-5 41196 0 NA
7-134719165-C-T p.Arg275Cys missense AGBL3 231 82378 0.00280415 41189 1 0.00515956
7-134719172-A-T p.Tyr277Phe missense AGBL3 1 82448 1.21289E-5 41224 0 0.00116279
7-134719179-T-C p.Ser279Ser synonymous AGBL3 1 82456 1.21277E-5 41228 0 NA
7-134719185-A-G p.Thr281Thr synonymous AGBL3 1 82472 1.21253E-5 41236 0 1.27644E-5
7-134719203-A-G p.Pro287Pro synonymous AGBL3 1 82568 1.21112E-5 41284 0 1.27413E-5
7-134719206-C-A p.His288Gln missense AGBL3 1 82582 1.21092E-5 41291 0 1.27379E-5
7-134719215-T-C p.Asp291Asp synonymous AGBL3 7 82606 8.47396E-5 41303 0 2.99058E-4
7-134719243-T-C p.Tyr301His missense AGBL3 1 82676 1.20954E-5 41338 0 NA
7-134719248-T-C p.Thr302Thr synonymous AGBL3 1 82690 1.20934E-5 41345 0 NA
7-134719252-A-C p.Thr304Pro missense AGBL3 1 82690 1.20934E-5 41345 0 1.34759E-4
7-134719253-C-T p.Thr304Ile missense AGBL3 5 82696 6.04624E-5 41348 0 1.26757E-5
7-134719264-G-C p.Glu308Gln missense AGBL3 11 82720 1.32979E-4 41360 2 3.18431E-5
7-134719267-T-G p.Tyr309Asp missense AGBL3 4 82714 4.83594E-5 41357 0 NA
7-134719269-C-A p.Tyr309* stop_gained AGBL3 1 82718 1.20893E-5 41359 0 NA
7-134719280-T-C p.Ile313Thr missense AGBL3 2 82704 2.41826E-5 41352 0 6.3328E-6
7-134719283-A-G p.Asn314Ser missense AGBL3 1 82716 1.20896E-5 41358 0 1.2664E-5
7-134719297-C-T p.Arg319Trp missense AGBL3 3 82712 3.62704E-5 41356 0 0.00119904
7-134719298-G-A p.Arg319Gln missense AGBL3 4 82710 4.83617E-5 41355 0 1.7963E-4
7-134719298-G-T p.Arg319Leu missense AGBL3 1 82710 1.20904E-5 41355 0 NA
7-134719318-C-T p.Arg326Cys missense AGBL3 4 82708 4.83629E-5 41354 0 1.34989E-4
7-134719319-G-A p.Arg326His missense AGBL3 2 82712 2.41803E-5 41356 0 3.18532E-5
7-134719319-G-T p.Arg326Leu missense AGBL3 1 82712 1.20901E-5 41356 0 NA
7-134719330-C-T p.His330Tyr missense AGBL3 1 82708 1.20907E-5 41354 0 NA
7-134719334-C-T p.Thr331Met missense AGBL3 2 82714 2.41797E-5 41357 0 1.27078E-5
7-134719335-G-A p.Thr331Thr synonymous AGBL3 1 82716 1.20896E-5 41358 0 4.51671E-5
7-134719343-G-C p.Arg334Thr missense AGBL3 8 82690 9.67469E-5 41345 0 2.54401E-5
7-134719353-G-A p.Val337Val synonymous AGBL3 5 82686 6.04697E-5 41343 0 3.18532E-5
7-134719372-A-AC p.Lys347fs frameshift AGBL3 1 82688 1.20937E-5 41344 0 NA
7-134719373-C-A p.Thr344Asn missense AGBL3 303 82680 0.00366473 41340 0 0.00378836
7-134719376-C-G p.Pro345Arg missense AGBL3 3 82696 3.62775E-5 41348 0 6.37918E-6
7-134719377-CT-C p.Leu346fs frameshift AGBL3 1 82698 1.20922E-5 41349 0 NA
7-134719387-T-C p.Ser349Pro missense AGBL3 5 82684 6.04712E-5 41342 0 3.19232E-5
7-134719390-G-T p.Asp350Tyr missense AGBL3 3 82682 3.62836E-5 41341 0 0.001875
7-134719402-C-T p.Arg354Trp missense AGBL3 4 82668 4.83863E-5 41334 0 3.18471E-5
7-134719403-G-A p.Arg354Gln missense AGBL3 4 82674 4.83828E-5 41337 0 9.21065E-5
7-134719407-G-A p.Lys355Lys synonymous AGBL3 2 82682 2.41891E-5 41341 0 6.38937E-6
7-134719414-A-AT p.Leu359fs frameshift AGBL3 5 82686 6.04697E-5 41343 0 6.36943E-5
7-134719417-C-T p.Leu359Leu synonymous AGBL3 1 82688 1.20937E-5 41344 0 NA
7-134719421-C-T p.Thr360Ile missense AGBL3 458 82662 0.00554064 41331 0 0.00531746
7-134719469-G-T p.Gly376Val missense AGBL3 2 82634 2.42031E-5 41317 0 1.08906E-4
7-134719473-C-T p.Phe377Phe synonymous AGBL3 2 82632 2.42037E-5 41316 0 NA
7-134719487-T-C p.Leu382Ser missense AGBL3 1 82636 1.21013E-5 41318 0 1.91907E-5
7-134719494-C-T p.Asn384Asn synonymous AGBL3 7 82646 8.46986E-5 41323 0 6.38863E-6
7-134719500-T-C p.Ser386Ser synonymous AGBL3 10 82642 1.21004E-4 41321 0 9.10996E-5
7-134719506-A-T p.Ala388Ala synonymous AGBL3 1 82656 1.20983E-5 41328 0 9.55292E-5
7-134719516-C-T p.Arg392Trp missense AGBL3 1 82638 1.2101E-5 41319 0 6.34357E-6
7-134719519-G-A p.Asp393Asn missense AGBL3 2 82646 2.41996E-5 41323 0 6.33216E-6
7-134719537-G-A p.Val399Met missense AGBL3 32 82648 3.87184E-4 41324 0 3.12221E-4
7-134719538-T-C p.Val399Ala missense AGBL3 20 82644 2.42002E-4 41322 0 0.00112486
7-134719551-C-G p.Leu403Leu synonymous AGBL3 77951 80832 0.964358 40416 37786 0.985625
7-134719568-T-C p.Ile409Thr missense AGBL3 5 82660 6.04888E-5 41330 0 9.55414E-5
7-134719582-C-T p.Arg414Cys missense AGBL3 1 82628 1.21024E-5 41314 0 1.33286E-4
7-134719591-T-TAAAATATAATC p.Leu417fs frameshift AGBL3 1 82604 1.2106E-5 41302 0 NA
7-134719600-C-T p.Arg420Trp missense AGBL3 53 82514 6.42315E-4 41257 0 0.00136978
7-134719601-G-A p.Arg420Gln missense AGBL3 31 82508 3.75721E-4 41254 0 6.25E-4
7-134719607-T-G p.Leu422* stop_gained AGBL3 1 82448 1.21289E-5 41224 0 NA
7-134719612-C-T p.Arg424Cys missense AGBL3 6 82374 7.28385E-5 41187 0 0.00187266
7-134719613-G-A p.Arg424His missense AGBL3 1 82364 1.21412E-5 41182 0 6.36943E-5
7-134719613-G-C p.Arg424Pro missense AGBL3 1 82362 1.21415E-5 41181 0 4.49173E-5
7-134719620-T-C p.Tyr426Tyr synonymous AGBL3 3 82274 3.64635E-5 41137 0 5.25597E-5
7-134719640-C-A p.Ser433Tyr missense AGBL3 2 82004 2.43891E-5 41002 0 NA
7-134719662-C-T p.Thr440Thr synonymous AGBL3 1 81494 1.22708E-5 40747 0 7.08215E-5
7-134719663-C-T p.Arg441Trp missense AGBL3 1 81448 1.22778E-5 40724 0 3.19954E-5
7-134719671-G-A p.Met443Ile missense AGBL3 20 81166 2.46409E-4 40583 0 3.18512E-4
7-134719679-G-A p.Arg446Lys missense+splice_region AGBL3 2 80728 2.47746E-5 40364 0 2.00276E-5
7-134722162-C-T c.1338-7C>T splice_region AGBL3 7 81968 8.53992E-5 40984 0 3.18634E-5
7-134722182-C-T p.Arg451* stop_gained AGBL3 1 82052 1.21874E-5 41026 0 6.9057E-6
7-134722183-G-A p.Arg451Gln missense AGBL3 35 82060 4.26517E-4 41030 0 5.09911E-4
7-134722193-T-G p.Ile454Met missense AGBL3 4 82166 4.86819E-5 41083 0 3.18532E-5
7-134722209-C-T p.His460Tyr missense AGBL3 1 82310 1.21492E-5 41155 0 NA
7-134722211-T-C p.His460His synonymous AGBL3 1 82296 1.21513E-5 41148 0 6.39681E-6
7-134722213-G-C p.Gly461Ala missense AGBL3 7 82310 8.50443E-5 41155 0 1.33097E-4
7-134722219-G-A p.Ser463Asn missense AGBL3 1 82316 1.21483E-5 41158 0 NA
7-134722221-AG-A p.Glu466fs frameshift AGBL3 2 82322 2.42948E-5 41161 0 NA
7-134722228-A-C p.Glu466Ala missense AGBL3 1 82338 1.21451E-5 41169 0 NA
7-134722234-T-A p.Ile468Asn missense AGBL3 1 82344 1.21442E-5 41172 0 4.44721E-5
7-134722269-A-AAGACATTATACTTACAGCAACGAATCTTCCCACTTATGCTAAGCAAAAATTGTCCAGATAAAGTAAGCACCTTTTAAGGTATTAACTTTTCC c.1500_1500+1insGTAAGCACCTTTTAAGGTATTAACTTTTCCAGACATTATACTTACAGCAACGAATCTTCCCACTTATGCTAAGCAAAAATTGTCCAGATAAA splice_donor AGBL3 1 82296 1.21513E-5 41148 0 NA
7-134722278-T-C p.Tyr483His missense AGBL3 1 82258 1.21569E-5 41129 0 5.88913E-5
7-134722284-C-T p.Gln485* stop_gained AGBL3 1 82130 1.21758E-5 41065 0 NA
7-134722289-A-G p.Gln486Gln synonymous AGBL3 1 82082 1.21829E-5 41041 0 NA
7-134722290-C-T p.Arg487* stop_gained AGBL3 1 82064 1.21856E-5 41032 0 6.68592E-6
7-134722291-G-A p.Arg487Gln missense AGBL3 11 82042 1.34078E-4 41021 0 4.6824E-5
7-134722302-C-A p.Leu491Ile missense AGBL3 16 82010 1.95098E-4 41005 0 3.74602E-4
7-134722306-T-C p.Met492Thr missense AGBL3 1 82020 1.21921E-5 41010 0 4.72411E-5
7-134722313-C-T p.Ser494Ser synonymous AGBL3 2 81952 2.44045E-5 40976 0 2.8112E-5
7-134722314-A-G p.Lys495Glu missense AGBL3 1 81992 1.21963E-5 40996 0 2.92113E-4
7-134722328-T-A p.Asp499Glu missense AGBL3 1 81892 1.22112E-5 40946 0 0.00125
7-134722332-G-A c.1500+1G>A splice_donor AGBL3 1 81840 1.2219E-5 40920 0 NA
7-134722339-C-G c.1500+8C>G splice_region AGBL3 1 81848 1.22178E-5 40924 0 7.1869E-6
7-134728785-T-C p.Ser504Pro missense AGBL3 1 82350 1.21433E-5 41175 0 6.37511E-5
7-134728793-C-T p.Cys506Cys synonymous AGBL3 1 82392 1.21371E-5 41196 0 NA
7-134728817-A-C p.Lys514Asn missense AGBL3 1 82520 1.21183E-5 41260 0 NA
7-134728836-G-A p.Val521Ile missense AGBL3 4 82532 4.8466E-5 41266 0 3.1594E-5
7-134728873-T-C p.Met533Thr missense AGBL3 2 82552 2.42272E-5 41276 0 1.27094E-5
7-134728899-C-G p.Leu542Val missense AGBL3 4 82512 4.84778E-5 41256 0 1.91022E-4
7-134728904-T-TC c.1627+2_1627+3insC splice_region AGBL3 1 82486 1.21233E-5 41243 0 NA
7-134728907-GACCAA-G c.1627+6_1627+10delACCAA splice_region AGBL3 4 82458 4.85095E-5 41229 0 3.1839E-5
7-134730233-C-T p.Arg546* stop_gained AGBL3 4 82146 4.86938E-5 41073 0 1.81159E-4
7-134730252-C-T p.Thr552Met missense AGBL3 765 82196 0.00930702 41098 2 0.00791762
7-134730253-G-A p.Thr552Thr synonymous AGBL3 3 82226 3.64848E-5 41113 0 6.36902E-5
7-134730263-G-C p.Glu556Gln missense AGBL3 1 82272 1.21548E-5 41136 0 NA
7-134730268-A-G p.Ser557Ser synonymous AGBL3 1 82290 1.21521E-5 41145 0 NA
7-134730272-G-A p.Gly559Arg missense AGBL3 1 82254 1.21575E-5 41127 0 NA
7-134730273-G-A p.Gly559Glu missense AGBL3 1 82262 1.21563E-5 41131 0 4.54876E-5
7-134730274-A-C p.Gly559Gly synonymous AGBL3 1 82270 1.21551E-5 41135 0 6.37162E-6
7-134730278-C-G p.His561Asp missense AGBL3 1 82256 1.21572E-5 41128 0 NA
7-134730292-T-C p.Ser565Ser synonymous AGBL3 1 82260 1.21566E-5 41130 0 NA
7-134730304-T-C p.Tyr569Tyr synonymous AGBL3 4 82220 4.865E-5 41110 0 6.36902E-5
7-134730305-T-C p.Cys570Arg missense AGBL3 1 82230 1.2161E-5 41115 0 NA
7-134730311-C-G p.Pro572Ala missense AGBL3 5 82194 6.08317E-5 41097 0 3.83656E-5
7-134730314-G-A p.Asp573Asn missense AGBL3 3 82146 3.65203E-5 41073 0 4.60109E-5
7-134730317-C-T p.Arg574Trp missense AGBL3 63 82136 7.67021E-4 41068 0 0.00213389
7-134730318-G-A p.Arg574Gln missense AGBL3 2 82140 2.43487E-5 41070 0 4.60532E-5
7-134730323-AAGGT-A p.Lys576fs frameshift AGBL3 1 82130 1.21758E-5 41065 0 NA
7-134730329-A-T c.1728+4A>T splice_region AGBL3 1 82082 1.21829E-5 41041 0 4.61681E-5
7-134730332-AA-TG c.1728+7_1728+8delAAinsTG splice_region AGBL3 1 82044 1.21886E-5 41022 0 NA
7-134730548-A-G c.1729-2A>G splice_acceptor AGBL3 1 81360 1.22911E-5 40680 0 NA
7-134730551-A-G p.Tyr577Cys missense+splice_region AGBL3 1 81384 1.22874E-5 40692 0 NA
7-134730556-C-T p.Arg579Trp missense AGBL3 1 81420 1.2282E-5 40710 0 1.29717E-5
7-134730557-G-A p.Arg579Gln missense AGBL3 9 81376 1.10598E-4 40688 0 0.00248139
7-134730565-AAAG-A p.Glu583del conservative_inframe_deletion AGBL3 3 81492 3.68134E-5 40746 0 NA
7-134730571-T-A p.Leu584Ile missense AGBL3 1 81526 1.2266E-5 40763 0 NA
7-134730572-T-C p.Leu584Ser missense AGBL3 2 81524 2.45327E-5 40762 0 1.37564E-4
7-134730586-A-G p.Arg589Gly missense AGBL3 2 81582 2.45152E-5 40791 0 4.5775E-5
7-134730591-T-C p.His590His synonymous AGBL3 1 81584 1.22573E-5 40792 0 NA
7-134730592-A-G p.Ile591Val missense AGBL3 2 81588 2.45134E-5 40794 0 NA
7-134730593-T-C p.Ile591Thr missense AGBL3 2 81574 2.45176E-5 40787 1 3.18492E-5
7-134730602-A-G p.Glu594Gly missense AGBL3 1 81524 1.22663E-5 40762 0 2.55928E-5
7-134730613-G-C p.Glu598Gln missense AGBL3 2 81490 2.45429E-5 40745 0 NA
7-134730615-G-A p.Glu598Glu synonymous AGBL3 1 81468 1.22748E-5 40734 0 NA
7-134730624-C-T p.Asp601Asp synonymous AGBL3 1 81462 1.22757E-5 40731 0 NA
7-134730628-C-T p.Pro603Ser missense AGBL3 1 81424 1.22814E-5 40712 0 NA
7-134730637-G-C p.Asp606His missense AGBL3 1 81356 1.22917E-5 40678 0 NA
7-134730642-T-C p.Ile607Ile synonymous AGBL3 74 81280 9.10433E-4 40640 0 0.0013054
7-134730646-T-C p.Leu609Leu synonymous AGBL3 2 81220 2.46245E-5 40610 1 1.28904E-5
7-134730651-T-C p.Asp610Asp synonymous AGBL3 1 81188 1.23171E-5 40594 0 NA
7-134730664-T-C c.1841+2T>C splice_donor AGBL3 4 80962 4.94059E-5 40481 0 6.65664E-6
7-134735782-AT-A p.Leu619fs frameshift AGBL3 1 50824 1.96757E-5 25412 0 NA
7-134735908-G-A c.*108+3G>A splice_region AGBL3 1 47370 2.11104E-5 23685 0 NA
7-134743917-T-C c.*109-3T>C splice_region AGBL3 1 79924 1.25119E-5 39962 0 NA
7-134743922-GC-G p.Arg616fs frameshift AGBL3 1 80002 1.24997E-5 40001 0 NA
7-134743924-C-T p.Arg616* stop_gained AGBL3 4 79974 5.00163E-5 39987 0 2.62464E-5
7-134743936-AG-A p.Ser620fs frameshift AGBL3 6 80154 7.48559E-5 40077 0 9.55292E-5
7-134743940-C-G p.Ser621* stop_gained AGBL3 3 80154 3.7428E-5 40077 0 1.01947E-4
7-134743947-C-T p.Ser623Ser synonymous AGBL3 2 80174 2.49457E-5 40087 0 1.30681E-5
7-134743956-T-C p.Ser626Ser synonymous AGBL3 1 80138 1.24785E-5 40069 0 5.08906E-5
7-134743962-T-C p.Thr628Thr synonymous AGBL3 1 80106 1.24835E-5 40053 0 NA
7-134743971-C-T p.Leu631Leu synonymous AGBL3 2 80062 2.49806E-5 40031 0 3.18634E-5
7-134743979-C-A p.Thr634Asn missense AGBL3 1 79924 1.25119E-5 39962 0 3.18715E-5
7-134743983-T-A p.Ser635Ser synonymous AGBL3 6 79892 7.51014E-5 39946 0 0.00125
7-134743986-G-T p.Gln636His missense+splice_region AGBL3 11 79810 1.37827E-4 39905 0 5.23848E-5
7-134743986-G-A p.Gln636Gln splice_region+synonymous AGBL3 13 79810 1.62887E-4 39905 0 6.25E-4
7-134761144-A-G c.*176-5A>G splice_region AGBL3 1 80282 1.24561E-5 40141 0 NA
7-134761148-G-GA p.His639fs frameshift AGBL3 1 80338 1.24474E-5 40169 0 2.02491E-4
7-134761148-GA-G p.Lys638fs frameshift AGBL3 5 80338 6.2237E-5 40169 0 5.06227E-5
7-134761162-A-G p.Lys641Arg missense AGBL3 1 80544 1.24156E-5 40272 0 1.27364E-4
7-134761163-A-G p.Lys641Lys synonymous AGBL3 1 80566 1.24122E-5 40283 0 NA
7-134761165-C-T p.Thr642Ile missense AGBL3 2 80576 2.48213E-5 40288 0 9.56511E-5
7-134761171-A-G p.Lys644Arg missense AGBL3 5 80632 6.20101E-5 40316 0 1.95427E-5
7-134761173-G-T p.Glu645* stop_gained AGBL3 8 80624 9.9226E-5 40312 0 5.06022E-5
7-134761174-A-C p.Glu645Ala missense AGBL3 1 80648 1.23996E-5 40324 0 NA
7-134761175-A-G p.Glu645Glu synonymous AGBL3 1 80660 1.23977E-5 40330 0 NA
7-134761191-G-C p.Ala651Pro missense AGBL3 1 80648 1.23996E-5 40324 0 3.18552E-5
7-134761198-A-T p.His653Leu missense AGBL3 3 80620 3.72116E-5 40310 0 3.90706E-5
7-134761210-G-A p.Arg657Lys missense AGBL3 1 80574 1.2411E-5 40287 0 NA
7-134761220-G-C p.Glu660Asp missense+splice_region AGBL3 1 80392 1.2439E-5 40196 0 6.5622E-6
7-134764969-G-A p.Gly665Gly synonymous AGBL3 205 80040 0.00256122 40020 3 0.00551435
7-134764975-G-A p.Leu667Leu synonymous AGBL3 3 80050 3.74766E-5 40025 0 6.51729E-6
7-134764989-C-T p.Thr672Ile missense AGBL3 2 79944 2.50175E-5 39972 0 NA
7-134764990-ACAAT-A p.Ser674fs frameshift AGBL3 1 79948 1.25081E-5 39974 0 NA
7-134765008-G-A p.Val678Val synonymous AGBL3 2 79748 2.5079E-5 39874 0 6.52929E-6
7-134766482-A-G p.Asn684Asp missense AGBL3 2 79424 2.51813E-5 39712 0 NA
7-134766483-A-G p.Asn684Ser missense AGBL3 1 79398 1.25948E-5 39699 0 9.55414E-5
7-134766487-A-G p.Glu685Glu synonymous AGBL3 1 79534 1.25732E-5 39767 0 5.07305E-5
7-134766499-T-C p.Tyr689Tyr synonymous AGBL3 1 79600 1.25628E-5 39800 0 1.95958E-5
7-134766501-T-C p.Met690Thr missense AGBL3 32 79558 4.02222E-4 39779 0 0.00130557
7-134766506-G-C p.Asp692His missense AGBL3 3 79532 3.77207E-5 39766 0 NA
7-134766524-T-C p.Leu698Leu synonymous AGBL3 5 79158 6.31648E-5 39579 0 6.55179E-6
7-134766534-A-G p.Gln701Arg missense AGBL3 1 78984 1.26608E-5 39492 0 6.3674E-5
7-134784788-C-T p.Arg704Cys missense AGBL3 1 6 0.166667 3 0 0.0239902
7-134785900-C-G c.2154-8C>G splice_region AGBL3 1 9558 1.04624E-4 4779 0 3.19632E-5
7-134785907-G-A c.2154-1G>A splice_acceptor AGBL3 1 9558 1.04624E-4 4779 0 NA
7-134786030-G-A c.2275+1G>A splice_donor AGBL3 5 9558 5.23122E-4 4779 0 0.00213485
7-134800136-G-C p.Leu705Leu synonymous AGBL3 1 80398 1.24381E-5 40199 0 6.5469E-6
7-134800136-G-A p.Leu705Leu synonymous AGBL3 1 80396 1.24384E-5 40198 0 NA
7-134800137-C-A p.His706Asn missense AGBL3 1 80428 1.24335E-5 40214 0 NA
7-134800172-A-C p.Ile717Ile synonymous AGBL3 1 80946 1.23539E-5 40473 0 6.51228E-6
7-134800183-G-T p.Ser721Ile missense AGBL3 21 81000 2.59259E-4 40500 0 1.62818E-4
7-134800206-ACA-GCG p.Thr729Ala missense AGBL3 6 81042 7.40357E-5 40521 0 NA
7-134800209-GA-G p.Asp730fs frameshift AGBL3 25 81062 3.08406E-4 40531 0 4.47199E-4
7-134800210-A-G p.Asp730Gly missense AGBL3 2 81058 2.46737E-5 40529 0 NA
7-134800211-TG-T p.Asp731fs frameshift AGBL3 25 81064 3.08398E-4 40532 0 4.46913E-4
7-134800213-A-C p.Asp731Ala missense AGBL3 25 81068 3.08383E-4 40534 0 4.45775E-4
7-134800219-AAAG-A p.Arg734del disruptive_inframe_deletion AGBL3 1 81086 1.23326E-5 40543 0 NA
7-134800229-C-T p.Tyr736Tyr synonymous AGBL3 80 81062 9.86899E-4 40531 1 0.00184796
7-134800233-G-A p.Asp738Asn missense AGBL3 1 81066 1.23356E-5 40533 0 6.50745E-6
7-134800234-A-C p.Asp738Ala missense AGBL3 1 81064 1.23359E-5 40532 0 NA
7-134800238-AG-A p.Gly740fs frameshift AGBL3 1 81054 1.23375E-5 40527 0 NA
7-134800243-T-C p.Ile741Thr missense AGBL3 3 81046 3.7016E-5 40523 0 1.0141E-4
7-134800246-T-G p.Val742Gly missense AGBL3 1 81042 1.23393E-5 40521 0 6.36983E-5
7-134800249-A-G p.Gln743Arg missense AGBL3 2 81034 2.4681E-5 40517 1 NA
7-134800252-C-T p.Thr744Ile missense AGBL3 1 81032 1.23408E-5 40516 0 6.5105E-6
7-134800263-T-C p.Leu748Leu synonymous AGBL3 1 81036 1.23402E-5 40518 0 NA
7-134800274-G-A p.Leu751Leu synonymous AGBL3 3 81054 3.70124E-5 40527 0 6.51059E-6
7-134800283-C-T p.Ile754Ile synonymous AGBL3 14 81062 1.72707E-4 40531 0 3.18512E-4
7-134800284-G-A p.Val755Met missense AGBL3 11 81068 1.35689E-4 40534 0 0.00146628
7-134800284-G-C p.Val755Leu missense AGBL3 1 81068 1.23353E-5 40534 0 NA
7-134800295-T-TA p.Asn760fs frameshift AGBL3 1 81072 1.23347E-5 40536 0 NA
7-134800298-A-G p.Lys759Lys synonymous AGBL3 2 81084 2.46658E-5 40542 0 3.1839E-5
7-134800310-C-T p.Thr763Thr synonymous AGBL3 3 81096 3.69932E-5 40548 0 NA
7-134800317-A-T p.Ile766Leu missense AGBL3 2 81094 2.46627E-5 40547 0 NA
7-134800325-G-C p.Gln768His missense AGBL3 7 81066 8.63494E-5 40533 0 3.18512E-5
7-134800328-A-G p.Leu769Leu synonymous AGBL3 8 81036 9.87216E-5 40518 0 2.54696E-4
7-134819601-C-T p.Pro784Leu missense AGBL3 120 80798 0.00148519 40399 0 0.00133801
7-134819602-G-A p.Pro784Pro synonymous AGBL3 42 80780 5.19931E-4 40390 0 0.00101943
7-134819603-G-T p.Ala785Ser missense AGBL3 1 80800 1.23762E-5 40400 0 NA
7-134819616-A-C p.Asn789Thr missense AGBL3 6 80994 7.40796E-5 40497 0 5.11091E-5
7-134819618-A-G p.Ile790Val missense AGBL3 7 81020 8.63984E-5 40510 0 0.0014971
7-134819625-A-G p.Lys792Arg missense AGBL3 1 81092 1.23317E-5 40546 0 NA
7-134819636-T-C p.Ser796Pro missense AGBL3 2 81156 2.46439E-5 40578 0 NA
7-134819648-C-T p.Pro800Ser missense AGBL3 2 81160 2.46427E-5 40580 0 3.18573E-5
7-134819652-GA-G p.Asn802fs frameshift AGBL3 1 81180 1.23183E-5 40590 0 NA
7-134819670-T-A p.Ile807Asn missense AGBL3 2 81188 2.46342E-5 40594 0 0.00159744
7-134819676-G-T p.Gly809Val missense AGBL3 4 81182 4.9272E-5 40591 0 5.05255E-5
7-134819677-G-T p.Gly809Gly synonymous AGBL3 5 81180 6.15915E-5 40590 0 NA
7-134819685-T-G p.Met812Arg missense AGBL3 16 81184 1.97083E-4 40592 0 1.30022E-5
7-134819686-G-A p.Met812Ile missense AGBL3 2 81184 2.46354E-5 40592 0 6.37471E-5
7-134819688-C-A p.Ala813Glu missense AGBL3 2 81186 2.46348E-5 40593 0 5.05357E-5
7-134819705-G-T p.Val819Phe missense AGBL3 15 81146 1.84852E-4 40573 0 6.50288E-6
7-134819706-T-C p.Val819Ala missense AGBL3 1 81140 1.23244E-5 40570 0 NA
7-134819711-T-C p.Ser821Pro missense AGBL3 1 81150 1.23229E-5 40575 0 NA
7-134819717-C-T p.Pro823Ser missense AGBL3 3 81128 3.69786E-5 40564 0 1.30093E-5
7-134819722-C-T p.His824His synonymous AGBL3 1 81108 1.23292E-5 40554 0 NA
7-134819725-G-T p.Arg825Ser missense AGBL3 2 81086 2.46652E-5 40543 0 6.50593E-6
7-134819731-G-T p.Leu827Phe missense AGBL3 1 81056 1.23371E-5 40528 0 NA
7-134819747-C-A p.Leu833Ile missense AGBL3 1 80998 1.2346E-5 40499 0 NA
7-134819749-C-A p.Leu833Leu synonymous AGBL3 2 80974 2.46993E-5 40487 0 NA
7-134819752-A-C p.Lys834Asn missense AGBL3 2 80940 2.47097E-5 40470 0 3.18674E-5
7-134819753-G-A p.Gly835Ser missense AGBL3 1 80928 1.23567E-5 40464 0 NA
7-134819760-A-G p.Lys837Arg missense AGBL3 5 80888 6.18139E-5 40444 0 0.00101307
7-134819765-A-G p.Asn839Asp missense AGBL3 1 80860 1.23671E-5 40430 0 5.06534E-5
7-134819767-T-A p.Asn839Lys missense AGBL3 1 80856 1.23677E-5 40428 0 NA
7-134819773-T-C p.His841His synonymous AGBL3 2 80810 2.47494E-5 40405 0 6.51568E-6
7-134819803-C-T p.Asp851Asp synonymous AGBL3 2 80846 2.47384E-5 40423 0 NA
7-134819853-T-A p.Met868Lys missense AGBL3 2 80992 2.46938E-5 40496 0 NA
7-134819861-A-C p.Asn871His missense AGBL3 3 81002 3.70361E-5 40501 0 6.51313E-6
7-134819864-G-A p.Val872Ile missense AGBL3 1 80978 1.2349E-5 40489 0 NA
7-134819874-A-G p.Tyr875Cys missense AGBL3 73 80954 9.01747E-4 40477 0 0.00443787
7-134819889-C-A p.Ala880Asp missense AGBL3 1 80892 1.23622E-5 40446 0 NA
7-134819903-C-G p.Gln885Glu missense AGBL3 1 80828 1.2372E-5 40414 0 NA
7-134819919-A-G p.His890Arg missense AGBL3 2 80706 2.47813E-5 40353 0 NA
7-134819931-A-AAGATCTGGCATGGAAATTCTTTCAATTGTCTCACCGTACATACCATCTT p.His894fs frameshift AGBL3 1 80576 1.24106E-5 40288 0 NA
7-134819942-A-C p.Asn898His missense AGBL3 1 80500 1.24224E-5 40250 0 6.37146E-5
7-134819945-A-G p.Lys899Glu missense AGBL3 9 80490 1.11815E-4 40245 0 6.25E-4
7-134819951-G-A p.Glu901Lys missense AGBL3 54 80438 6.71324E-4 40219 0 0.00144509
7-134819959-C-T p.Ala903Ala synonymous AGBL3 1 80416 1.24353E-5 40208 0 NA
7-134819980-C-A p.Pro910Pro synonymous AGBL3 6 80442 7.45879E-5 40221 0 2.74311E-4
7-134819982-C-A p.Thr911Asn missense AGBL3 1 80460 1.24285E-5 40230 0 NA
7-134820009-G-A p.Ser920Asn missense AGBL3 3 80422 3.73032E-5 40211 0 2.07869E-4