Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-100487832-G-T p.???398??? splice_region+synonymous ACHE 2 81982 2.43956E-5 40991 0 NA
7-100487834-G-T p.Asp397Glu missense+splice_region ACHE 128 81998 0.00156101 40999 0 0.00276309
7-100487838-C-T p.Cys396Tyr missense ACHE 2 82030 2.43813E-5 41015 0 NA
7-100487912-G-A p.Arg590Cys missense ACHE 1 81456 1.22766E-5 40728 0 6.37227E-5
7-100487931-C-T p.Ser365Asn missense ACHE 2 81266 2.46105E-5 40633 0 NA
7-100487949-G-A p.Ser359Leu missense ACHE 5 80876 6.1823E-5 40438 0 0.00252525
7-100487951-G-T p.Leu577Ile missense ACHE 1 80866 1.23661E-5 40433 0 NA
7-100487953-G-C p.Thr576Arg missense ACHE 1 80862 1.23667E-5 40431 0 NA
7-100488581-A-G p.Ter618Argext*? stop_lost ACHE 1 79288 1.26122E-5 39644 0 NA
7-100488589-C-G p.Arg615Pro missense ACHE 2 79244 2.52385E-5 39622 0 NA
7-100488590-G-A p.Arg615Trp missense ACHE 1 79302 1.261E-5 39651 0 NA
7-100488599-A-C p.Ser612Ala missense ACHE 1 79300 1.26103E-5 39650 0 5.09165E-4
7-100488600-G-A p.Leu611Leu synonymous ACHE 2 79322 2.52137E-5 39661 0 3.3883E-5
7-100488609-G-A p.Leu608Leu synonymous ACHE 1 79410 1.25929E-5 39705 0 8.04505E-5
7-100488610-A-T p.Leu608His missense ACHE 1 79416 1.25919E-5 39708 0 NA
7-100488622-T-TGGA p.Leu603dup conservative_inframe_insertion ACHE 1 79472 1.2583E-5 39736 0 1.22938E-5
7-100488625-A-T p.Leu603His missense ACHE 1 79496 1.25792E-5 39748 0 NA
7-100488626-G-T p.Leu603Ile missense ACHE 2 79540 2.51446E-5 39770 0 NA
7-100488629-G-C p.Leu602Val missense ACHE 1 79576 1.25666E-5 39788 0 NA
7-100488638-G-T p.Pro599Thr missense ACHE 388 79612 0.00487364 39806 0 0.0102987
7-100488639-C-T p.Leu598Leu synonymous ACHE 2 79636 2.51143E-5 39818 0 3.62118E-5
7-100488642-G-T p.Pro597Pro synonymous ACHE 4 79796 5.01278E-5 39898 0 1.25755E-4
7-100488647-G-A p.Leu596Phe missense ACHE 1 79604 1.25622E-5 39802 0 NA
7-100488658-G-C p.Pro592Arg missense ACHE 25621 73702 0.34763 36851 3991 0.473022
7-100488662-C-T p.Ala591Thr missense ACHE 1 79500 1.25786E-5 39750 0 NA
7-100488662-C-A p.Ala591Ser missense ACHE 2 79500 2.51572E-5 39750 0 NA
7-100488671-C-G p.Gly588Arg missense ACHE 1 79548 1.2571E-5 39774 0 NA
7-100488691-G-A p.Thr581Ile missense ACHE 1 78886 1.26765E-5 39443 0 2.31332E-5
7-100488704-C-T p.Glu577Lys missense ACHE 1 77772 1.28581E-5 38886 0 NA
7-100488712-A-G c.1724-3T>C splice_region ACHE 3 76608 3.91604E-5 38304 0 3.35949E-5
7-100488713-G-C c.1724-4C>G splice_region ACHE 2 76618 2.61035E-5 38309 0 NA
7-100488717-G-A c.1724-8C>T splice_region ACHE 1 75878 1.31791E-5 37939 0 NA
7-100488791-G-A p.Thr574Thr splice_region+synonymous ACHE 1 65828 1.51911E-5 32914 0 1.09185E-4
7-100488791-G-C p.Thr574Thr splice_region+synonymous ACHE 2 65828 3.03822E-5 32914 0 2.18369E-5
7-100488805-A-G p.Leu570Leu synonymous ACHE 1 63794 1.56755E-5 31897 0 1.32344E-5
7-100488848-C-G p.Leu555Leu synonymous ACHE 2 57084 3.50361E-5 28542 0 NA
7-100488871-G-C p.Pro548Ala missense ACHE 2 58730 3.40541E-5 29365 0 NA
7-100488874-G-A p.Arg547Trp missense ACHE 1 58298 1.71532E-5 29149 0 9.21336E-6
7-100488883-G-A p.Leu544Leu synonymous ACHE 1 57662 1.73424E-5 28831 0 NA
7-100488896-C-T p.Gln539Gln synonymous ACHE 2 55598 3.59725E-5 27799 0 NA
7-100488903-C-T p.Gly537Glu missense ACHE 1 54574 1.83237E-5 27287 0 8.51499E-6
7-100488907-C-A p.Ala536Ser missense ACHE 1 53776 1.85957E-5 26888 0 9.18729E-6
7-100488908-C-G p.Thr535Thr synonymous ACHE 1 53568 1.86679E-5 26784 0 NA
7-100488911-G-A p.Tyr534Tyr synonymous ACHE 2 53348 3.74897E-5 26674 0 NA
7-100488927-G-T p.Pro529Gln missense ACHE 1 50860 1.96618E-5 25430 0 NA
7-100488932-C-T p.Lys527Lys synonymous ACHE 11 50180 2.19211E-4 25090 0 5.09165E-4
7-100488941-T-C p.Arg524Arg synonymous ACHE 1 49010 2.0404E-5 24505 0 NA
7-100489960-G-A p.Arg516Arg synonymous ACHE 3 82150 3.65186E-5 41075 0 8.83695E-5
7-100489961-C-T p.Arg516His missense ACHE 1 82124 1.21767E-5 41062 0 1.10473E-5
7-100489982-C-T p.Arg509Gln missense ACHE 2 82308 2.4299E-5 41154 0 6.40328E-5
7-100489991-C-T p.Arg506Gln missense ACHE 2 82328 2.42931E-5 41164 0 5.04541E-4
7-100489998-C-T p.Ala504Thr missense ACHE 1 82338 1.21451E-5 41169 0 1.08514E-5
7-100490002-G-T p.Ile502Ile synonymous ACHE 1 82414 1.21339E-5 41207 0 5.40973E-6
7-100490017-C-T p.Thr497Thr synonymous ACHE 3 82494 3.63663E-5 41247 0 6.41313E-5
7-100490018-G-A p.Thr497Met missense ACHE 2 82492 2.42448E-5 41246 0 1.61355E-5
7-100490030-G-A p.Ser493Phe missense ACHE 1 82682 1.20945E-5 41341 0 1.60164E-5
7-100490033-G-A p.Pro492Leu missense ACHE 2 82670 2.41926E-5 41335 0 NA
7-100490050-A-G p.Phe486Phe synonymous ACHE 1 82852 1.20697E-5 41426 0 9.69415E-6
7-100490068-G-A p.Tyr480Tyr synonymous ACHE 4 82866 4.82707E-5 41433 0 1.3856E-5
7-100490074-G-A p.His478His synonymous ACHE 5 82854 6.03471E-5 41427 0 8.09877E-5
7-100490077-G-A p.Pro477Pro synonymous ACHE 6733 82674 0.0814404 41337 386 0.11625
7-100490080-C-G p.Val476Val synonymous ACHE 6 82818 7.2448E-5 41409 0 3.21792E-5
7-100490093-A-G p.Leu472Pro missense ACHE 5 82910 6.03064E-5 41455 0 2.24979E-4
7-100490102-G-A p.Ser469Phe missense ACHE 1 82902 1.20624E-5 41451 0 NA
7-100490104-G-C p.Leu468Leu synonymous ACHE 1 82908 1.20616E-5 41454 0 NA
7-100490108-G-A p.Thr467Met missense ACHE 2 82888 2.41289E-5 41444 0 2.63848E-5
7-100490130-C-T p.Val460Ile missense ACHE 12 82712 1.45082E-4 41356 0 1.28811E-4
7-100490131-G-A p.Tyr459Tyr synonymous ACHE 3 82698 3.62766E-5 41349 0 6.25E-4
7-100490136-C-T p.Ala458Thr missense ACHE 18 82564 2.18013E-4 41282 0 0.00101112
7-100490137-G-A p.Tyr457Tyr synonymous ACHE 1 82562 1.21121E-5 41281 0 3.20451E-5
7-100490145-G-A p.Arg455Trp missense ACHE 1 82394 1.21368E-5 41197 0 NA
7-100490146-G-A p.Ala454Ala synonymous ACHE 1 82376 1.21395E-5 41188 0 NA
7-100490151-C-T p.Gly453Ser missense ACHE 1 82388 1.21377E-5 41194 0 4.02382E-6
7-100490165-C-T p.Arg448Gln missense ACHE 1 82332 1.21459E-5 41166 0 NA
7-100490184-C-T p.Val442Met missense ACHE 1 82128 1.21761E-5 41064 0 5.05051E-4
7-100490185-G-A p.Pro441Pro synonymous ACHE 7 82154 8.52058E-5 41077 0 0.0010101
7-100490193-C-T p.Val439Met missense ACHE 1 82156 1.2172E-5 41078 0 3.37547E-5
7-100490194-G-A p.Val438Val synonymous ACHE 4 82134 4.87009E-5 41067 0 6.40369E-5
7-100490211-C-T p.Val433Met missense ACHE 1 82050 1.21877E-5 41025 0 NA
7-100490212-C-G p.Val432Val synonymous ACHE 6 82074 7.31048E-5 41037 0 9.59509E-5
7-100490214-C-T p.Val432Met missense ACHE 1 82090 1.21818E-5 41045 0 NA
7-100490218-G-A p.Ser430Ser synonymous ACHE 1 82030 1.21907E-5 41015 0 4.01616E-6
7-100490237-C-T p.Arg424His missense ACHE 4 81928 4.88234E-5 40964 0 8.5659E-6
7-100490237-C-A p.Arg424Leu missense ACHE 3 81928 3.66175E-5 40964 0 8.5659E-6
7-100490238-G-A p.Arg424Cys missense ACHE 2 81912 2.44164E-5 40956 0 1.2092E-5
7-100490242-C-T p.Pro422Pro synonymous ACHE 14 81912 1.70915E-4 40956 0 6.07339E-4
7-100490251-G-A p.Pro419Pro synonymous ACHE 1 82040 1.21892E-5 41020 0 8.61534E-6
7-100490259-G-A p.Leu417Leu synonymous ACHE 2 82268 2.43108E-5 41134 0 NA
7-100490265-C-T c.*699-1G>A splice_acceptor ACHE 1 82374 1.21398E-5 41187 0 NA
7-100490273-T-C p.His412Arg missense ACHE 5 82426 6.06605E-5 41213 0 3.19632E-4
7-100490277-G-A p.Leu411Leu synonymous ACHE 1 82454 1.2128E-5 41227 0 NA
7-100490285-G-C p.Ala408Gly missense ACHE 4 82468 4.85037E-5 41234 0 4.01101E-6
7-100490324-C-T p.Arg395Gln missense ACHE 1 82654 1.20986E-5 41327 0 3.20261E-5
7-100490325-G-A p.Arg395Trp missense ACHE 1 82636 1.21013E-5 41318 0 8.56531E-6
7-100490332-G-A p.Ala392Ala synonymous ACHE 3 82682 3.62836E-5 41341 0 9.57854E-5
7-100490343-C-T p.Glu389Lys missense ACHE 1 82694 1.20928E-5 41347 0 NA
7-100490344-G-A p.Ala388Ala synonymous ACHE 1 82700 1.20919E-5 41350 0 3.19387E-5
7-100490351-C-T p.Ser386Asn missense ACHE 1 82712 1.20901E-5 41356 0 1.73043E-5
7-100490358-G-C p.Leu384Val missense ACHE 1 82674 1.20957E-5 41337 0 NA
7-100490364-C-T p.Glu382Lys missense ACHE 1 82636 1.21013E-5 41318 0 NA
7-100490364-CGTT-C p.Asn381del conservative_inframe_deletion ACHE 1 82636 1.21013E-5 41318 0 8.03891E-6
7-100490365-G-A p.Asn381Asn synonymous ACHE 1 82620 1.21036E-5 41310 0 1.20694E-5
7-100490416-A-G p.Asp364Asp synonymous ACHE 1 81892 1.22112E-5 40946 0 NA
7-100490431-C-T p.Val359Val synonymous ACHE 1 81422 1.22817E-5 40711 0 3.18857E-5
7-100490434-C-G p.Leu358Leu synonymous ACHE 2 81360 2.45821E-5 40680 0 NA
7-100490445-G-C c.1069-6C>G splice_region ACHE 3 80974 3.70489E-5 40487 0 NA
7-100490782-T-A c.1068+4A>T splice_region ACHE 1 80980 1.23487E-5 40490 0 NA
7-100490785-C-T c.1068+1G>A splice_donor ACHE 1 81122 1.23271E-5 40561 0 NA
7-100490795-G-A p.His353His synonymous ACHE 2 81396 2.45712E-5 40698 0 2.61776E-5
7-100490797-G-T p.His353Asn missense ACHE 4052 81364 0.0498009 40682 122 0.115625
7-100490798-G-A p.Phe352Phe synonymous ACHE 7 81546 8.58411E-5 40773 0 9.56267E-5
7-100490801-G-C p.Asp351Glu missense ACHE 1 81680 1.22429E-5 40840 0 4.00166E-6
7-100490807-C-T p.Ala349Ala synonymous ACHE 2 81804 2.44487E-5 40902 0 6.25E-4
7-100490808-G-A p.Ala349Val missense ACHE 3 81808 3.66712E-5 40904 0 3.50631E-4
7-100490809-C-T p.Ala349Thr missense ACHE 1 81866 1.22151E-5 40933 0 8.45866E-6
7-100490810-G-A p.Asn348Asn synonymous ACHE 19 81958 2.31826E-4 40979 0 0.00302419
7-100490813-G-C p.Ile347Met missense ACHE 2 82056 2.43736E-5 41028 0 3.18634E-5
7-100490822-C-T p.Glu344Glu synonymous ACHE 274 82268 0.00333058 41134 4 0.00669387
7-100490822-C-A p.Glu344Asp missense ACHE 1 82280 1.21536E-5 41140 0 3.18756E-5
7-100490828-G-A p.Thr342Thr synonymous ACHE 1 82388 1.21377E-5 41194 0 3.98594E-6
7-100490874-C-T p.Arg327Gln missense ACHE 1 82838 1.20718E-5 41419 0 3.98178E-6
7-100490909-G-A p.His315His synonymous ACHE 1 82880 1.20656E-5 41440 0 1.65917E-5
7-100490909-G-C p.His315Gln missense ACHE 1 82880 1.20656E-5 41440 0 NA
7-100490911-G-T p.His315Asn missense ACHE 3 82876 3.61987E-5 41438 0 NA
7-100490917-C-A p.Val313Leu missense ACHE 1 82836 1.2072E-5 41418 0 NA
7-100490920-G-A p.Leu312Leu synonymous ACHE 1 82858 1.20688E-5 41429 0 NA
7-100490927-C-A p.Ala309Ala synonymous ACHE 1 82820 1.20744E-5 41410 0 NA
7-100490929-C-G p.Ala309Pro missense ACHE 1 82808 1.20761E-5 41404 0 NA
7-100490929-C-A p.Ala309Ser missense ACHE 1 82808 1.20761E-5 41404 0 NA
7-100490940-C-T p.Arg305Gln missense ACHE 2 82768 2.41639E-5 41384 0 1.66328E-5
7-100490957-C-T p.Glu299Glu synonymous ACHE 3 82598 3.63205E-5 41299 0 3.18796E-5
7-100490963-G-A p.Asp297Asp synonymous ACHE 1 82556 1.2113E-5 41278 0 8.34711E-6
7-100490968-T-G p.Asn296His missense ACHE 1 82480 1.21242E-5 41240 0 8.3552E-6
7-100490981-G-A p.Gly291Gly synonymous ACHE 15 82316 1.82225E-4 41158 0 2.55037E-4
7-100490982-C-T p.Gly291Asp missense ACHE 1 82312 1.21489E-5 41156 0 3.18593E-5
7-100490984-T-A p.Pro290Pro synonymous ACHE 1 82320 1.21477E-5 41160 0 3.99441E-6
7-100490989-G-A p.Pro289Ser missense ACHE 1 82256 1.21572E-5 41128 0 NA
7-100491005-G-C p.Ala283Ala synonymous ACHE 1 81996 1.21957E-5 40998 0 NA
7-100491008-C-G p.Leu282Leu synonymous ACHE 1 81960 1.22011E-5 40980 0 NA
7-100491014-C-T p.Thr280Thr synonymous ACHE 1 81788 1.22267E-5 40894 0 0.00100806
7-100491015-G-A p.Thr280Met missense ACHE 1 81806 1.2224E-5 40903 0 4.02143E-6
7-100491027-C-T p.Arg276His missense ACHE 2 81418 2.45646E-5 40709 0 3.18878E-5
7-100491042-C-G p.Gly271Ala missense ACHE 1 81028 1.23414E-5 40514 0 1.22794E-5
7-100491047-C-T p.Thr269Thr synonymous ACHE 168 80870 0.00207741 40435 3 0.0053239
7-100491048-G-A p.Thr269Met missense ACHE 3 80852 3.71048E-5 40426 0 3.28329E-5
7-100491059-T-G p.Gly265Gly synonymous ACHE 1 80578 1.24103E-5 40289 0 4.11584E-6
7-100491068-G-A p.Ala262Ala synonymous ACHE 1 80396 1.24384E-5 40198 0 2.60516E-5
7-100491086-G-A p.Ala256Ala synonymous ACHE 1 79882 1.25185E-5 39941 0 4.57464E-5
7-100491092-G-A p.His254His synonymous ACHE 2 79840 2.50501E-5 39920 0 6.37511E-5
7-100491105-C-T p.Arg250Gln missense ACHE 1 79374 1.25986E-5 39687 0 3.18979E-5
7-100491113-C-T p.Pro247Pro synonymous ACHE 3 79002 3.79737E-5 39501 0 6.96342E-5
7-100491114-G-A p.Pro247Leu missense ACHE 102 79060 0.00129016 39530 1 0.0010634
7-100491149-C-T p.Ala235Ala synonymous ACHE 16 78876 2.0285E-4 39438 0 7.97397E-4
7-100491152-G-A p.Ser234Ser synonymous ACHE 7 78822 8.88077E-5 39411 0 1.11799E-4
7-100491158-C-T p.Gly232Gly synonymous ACHE 1 79436 1.25888E-5 39718 0 8.57339E-6
7-100491166-G-A p.Leu230Leu synonymous ACHE 1 79512 1.25767E-5 39756 0 NA
7-100491167-C-T p.Thr229Thr synonymous ACHE 17 79498 2.13842E-4 39749 0 8.29029E-4
7-100491168-G-A p.Thr229Met missense ACHE 2 79520 2.51509E-5 39760 0 3.18918E-5
7-100491179-C-T p.Pro225Pro synonymous ACHE 3 79732 3.7626E-5 39866 0 6.37796E-5
7-100491182-G-A p.Asp224Asp synonymous ACHE 1 79730 1.25423E-5 39865 0 NA
7-100491239-C-T p.Leu205Leu synonymous ACHE 1 81504 1.22693E-5 40752 0 6.37471E-5
7-100491265-C-T p.Glu197Lys missense ACHE 1 81920 1.2207E-5 40960 0 NA
7-100491267-C-T p.Arg196Gln missense ACHE 1 81942 1.22038E-5 40971 0 3.38513E-5
7-100491269-G-A p.Ser195Ser synonymous ACHE 1 81910 1.22085E-5 40955 0 9.56572E-5
7-100491273-C-T p.Gly194Glu missense ACHE 1 82076 1.21838E-5 41038 0 NA
7-100491275-C-T p.Pro193Pro synonymous ACHE 2 82084 2.43653E-5 41042 0 1.68942E-4
7-100491302-C-A p.Val184Val synonymous ACHE 1 82638 1.2101E-5 41319 0 8.37142E-6
7-100491302-C-T p.Val184Val synonymous ACHE 2 82638 2.42019E-5 41319 0 7.53428E-5
7-100491305-C-T p.Arg183Arg synonymous ACHE 1 82684 1.20942E-5 41342 0 3.18634E-5
7-100491306-C-T p.Arg183Gln missense ACHE 1 82690 1.20934E-5 41345 0 3.18674E-5
7-100491333-C-G p.Arg174Thr missense ACHE 1 82988 1.20499E-5 41494 0 NA
7-100491338-G-A p.Ala172Ala synonymous ACHE 2 82986 2.41005E-5 41493 0 3.18878E-5
7-100491344-T-C p.Val170Val synonymous ACHE 1 83028 1.20441E-5 41514 0 NA
7-100491361-C-T p.Asp165Asn missense ACHE 4 83064 4.81556E-5 41532 0 1.19687E-5
7-100491362-G-A p.Tyr164Tyr synonymous ACHE 1 83066 1.20386E-5 41533 0 NA
7-100491365-C-T p.Val163Val synonymous ACHE 3 83094 3.61037E-5 41547 0 NA
7-100491373-A-G p.Leu161Leu synonymous ACHE 1 83094 1.20346E-5 41547 0 NA
7-100491413-G-C p.Val147Val synonymous ACHE 1 83150 1.20265E-5 41575 0 NA
7-100491415-C-T p.Val147Ile missense ACHE 6 83132 7.21744E-5 41566 0 9.56084E-5
7-100491424-G-A p.Pro144Ser missense ACHE 3 83136 3.60855E-5 41568 0 3.18674E-5
7-100491428-G-A p.Pro142Pro synonymous ACHE 1 83150 1.20265E-5 41575 0 2.49389E-5
7-100491435-G-A p.Thr140Ile missense ACHE 1 83160 1.2025E-5 41580 0 NA
7-100491441-C-A p.Arg138Leu missense ACHE 50 83160 6.01251E-4 41580 0 5.1053E-4
7-100491441-C-T p.Arg138Gln missense ACHE 2 83160 2.405E-5 41580 0 6.38162E-5
7-100491441-C-G p.Arg138Pro missense ACHE 2 83160 2.405E-5 41580 0 3.19081E-5
7-100491450-G-C p.Pro135Arg missense ACHE 2 83166 2.40483E-5 41583 0 4.00349E-6
7-100491451-G-C p.Pro135Ala missense ACHE 163 83166 0.00195994 41583 2 0.0110775
7-100491453-G-A p.Thr134Ile missense ACHE 1 83160 1.2025E-5 41580 0 8.37016E-6
7-100491460-C-G p.Val132Leu missense ACHE 1 83162 1.20247E-5 41581 0 NA
7-100491461-G-A p.Asn131Asn synonymous ACHE 1 83170 1.20236E-5 41585 0 8.3856E-6
7-100491482-G-A p.Ser124Ser synonymous ACHE 1 83148 1.20267E-5 41574 0 8.44238E-6
7-100491491-A-G p.Val54Ala missense ACHE 18 83166 2.16435E-4 41583 0 6.72215E-4
7-100491520-C-G p.Glu112Gln missense ACHE 1 83158 1.20253E-5 41579 0 1.66788E-5
7-100491539-G-A p.Asp105Asp synonymous ACHE 2 83166 2.40483E-5 41583 0 4.54628E-5
7-100491548-T-C p.Gln102Gln synonymous ACHE 1 83146 1.2027E-5 41573 0 NA
7-100491564-T-C p.Gln97Arg missense ACHE 2 83152 2.40523E-5 41576 0 4.07368E-6
7-100491575-A-G p.Ala93Ala synonymous ACHE 2 83144 2.40547E-5 41572 0 8.08231E-6
7-100491577-C-T p.Ala93Thr missense ACHE 3 83124 3.60907E-5 41562 0 NA
7-100491588-C-T p.Gly89Glu missense ACHE 119 83120 0.00143167 41560 0 0.00875
7-100491590-T-A p.Ser88Ser synonymous ACHE 1 83112 1.2032E-5 41556 0 2.00732E-5
7-100491604-T-TG p.Lys84fs frameshift ACHE 2 83078 2.40738E-5 41539 0 NA
7-100491608-C-G p.Glu82Asp missense ACHE 1 83052 1.20406E-5 41526 0 4.01287E-6
7-100491611-C-T p.Pro81Pro synonymous ACHE 1 83030 1.20438E-5 41515 0 2.81016E-5
7-100491612-G-A p.Pro81Leu missense ACHE 1 83038 1.20427E-5 41519 0 4.01423E-6
7-100491614-T-C p.Pro80Pro synonymous ACHE 3 83032 3.61306E-5 41516 0 NA
7-100491627-C-T p.Arg76His missense ACHE 1 82936 1.20575E-5 41468 0 8.62857E-6
7-100491637-T-G p.Met73Leu missense ACHE 1 82884 1.20651E-5 41442 0 NA
7-100491637-T-C p.Met73Val missense ACHE 2 82884 2.41301E-5 41442 0 1.76979E-5
7-100491641-T-C p.Pro71Pro synonymous ACHE 6 82856 7.24148E-5 41428 0 0.00151057
7-100491647-C-T p.Ala69Ala synonymous ACHE 2 82766 2.41645E-5 41383 0 4.61698E-5
7-100491671-A-G p.Ser61Ser synonymous ACHE 137 82546 0.00165968 41273 1 0.00453172
7-100491678-G-C p.Pro59Arg missense ACHE 3 82460 3.63813E-5 41230 0 1.22369E-5
7-100491679-G-A p.Pro59Ser missense ACHE 2 82426 2.42642E-5 41213 0 3.18898E-5
7-100491681-C-T p.Gly58Asp missense ACHE 1 82404 1.21353E-5 41202 0 NA
7-100491685-C-T p.Gly57Arg missense ACHE 86 82306 0.00104488 41153 1 0.0106918
7-100491685-C-G p.Gly57Arg missense ACHE 6 82312 7.28934E-5 41156 0 6.38081E-5
7-100491686-G-A p.Pro56Pro synonymous ACHE 9 82302 1.09353E-4 41151 0 3.19E-5
7-100491687-G-A p.Pro56Leu missense ACHE 7 82308 8.50464E-5 41154 0 1.34815E-4
7-100491700-G-T p.Arg52Ser missense ACHE 11 81926 1.34268E-4 40963 0 0.0015121
7-100491703-T-G p.Ile51Leu missense ACHE 3 81874 3.66417E-5 40937 0 NA
7-100491708-C-T p.Arg49Gln missense ACHE 6 81696 7.3443E-5 40848 0 6.29723E-4
7-100491710-C-A p.Leu48Leu synonymous ACHE 3 81592 3.67683E-5 40796 0 0.00151362
7-100491713-C-A p.Arg47Arg synonymous ACHE 9 81464 1.10478E-4 40732 0 1.27592E-4
7-100491714-C-T p.Arg47Gln missense ACHE 1 81390 1.22865E-5 40695 0 3.1902E-5
7-100491723-C-T p.Arg44His missense ACHE 1 81140 1.23244E-5 40570 0 2.2748E-5
7-100491728-C-A p.Thr42Thr splice_region+synonymous ACHE 2 80900 2.47219E-5 40450 0 NA
7-100491729-G-A p.Thr42Met missense+splice_region ACHE 27 80790 3.342E-4 40395 0 0.00101112
7-100491740-C-G p.Glu38Asp missense ACHE 1 80506 1.24214E-5 40253 0 NA
7-100491745-C-T p.Ala37Thr missense ACHE 1 80320 1.24502E-5 40160 0 NA
7-100491752-C-T p.Arg34Arg synonymous ACHE 1 79894 1.25166E-5 39947 0 7.73994E-6
7-100491753-C-T p.Arg34Gln missense ACHE 279 79668 0.00350203 39834 2 0.00873836
7-100491761-A-G p.Ala31Ala synonymous ACHE 1 79096 1.26429E-5 39548 0 NA
7-100491768-ACTC-A p.Gly28fs frameshift ACHE 1 78476 1.27427E-5 39238 0 3.20328E-5
7-100491774-C-G p.Gly27Ala missense ACHE 2 78190 2.55787E-5 39095 0 3.18776E-5
7-100491787-AGAG-A p.Leu22del conservative_inframe_deletion ACHE 3 77346 3.87868E-5 38673 0 1.4794E-4
7-100491788-G-C p.Leu22Leu synonymous ACHE 23 77256 2.97711E-4 38628 0 9.88331E-4
7-100491790-G-A p.Leu22Phe missense ACHE 1 77146 1.29624E-5 38573 0 NA
7-100491797-GAGA-G p.Leu19del disruptive_inframe_deletion ACHE 4 76310 5.24178E-5 38155 0 2.36202E-4
7-100491814-C-T p.Ala14Thr missense ACHE 3 73024 4.10824E-5 36512 0 1.42045E-4
7-100491824-C-T p.Thr10Thr synonymous ACHE 1 69870 1.43123E-5 34935 0 5.6035E-5
7-100491825-G-A p.Thr10Met missense ACHE 13 69570 1.86862E-4 34785 0 4.06599E-4
7-100491826-T-G p.Thr10Pro missense ACHE 1 69322 1.44254E-5 34661 0 5.78704E-5
7-100491831-A-T p.Leu8Gln missense ACHE 1 68042 1.46968E-5 34021 0 NA
7-100491842-C-T p.Pro4Pro synonymous ACHE 1 63492 1.575E-5 31746 0 9.48047E-5
7-100491845-G-A p.Pro3Pro synonymous ACHE 5 62646 7.98136E-5 31323 0 4.28781E-4
7-100491846-G-C p.Pro3Arg missense ACHE 7 62196 1.12547E-4 31098 0 3.18593E-5
7-100491847-G-T p.Pro3Thr missense ACHE 5 61444 8.13749E-5 30722 0 6.25782E-4
7-100491847-G-A p.Pro3Ser missense ACHE 1 61444 1.6275E-5 30722 0 NA
7-100491871-C-A c.-18G>T splice_region ACHE 2 52352 3.82029E-5 26176 0 4.51101E-5
7-100491878-T-C c.-23-2A>G splice_acceptor ACHE 2 50970 3.92388E-5 25485 0 3.81388E-4
7-100491895-A-C c.-42T>G 5_prime_UTR_premature_start_codon_gain ACHE 1 46168 2.166E-5 23084 0 NA
7-100491909-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain ACHE 1 41322 2.42002E-5 20661 0 NA
7-100491913-G-A c.-60C>T 5_prime_UTR_premature_start_codon_gain ACHE 1 39998 2.50013E-5 19999 0 NA
7-100491973-G-C c.-120C>G 5_prime_UTR_premature_start_codon_gain ACHE 1 28688 3.48578E-5 14344 0 NA
7-100494166-T-C c.-21+8A>G splice_region ACHE 8 41110 1.946E-4 20555 0 5.42299E-4
7-100494192-G-A c.-39C>T 5_prime_UTR_premature_start_codon_gain ACHE 6 46176 1.29938E-4 23088 0 1.3157E-4
7-100494201-C-T c.-48G>A 5_prime_UTR_premature_start_codon_gain ACHE 1 47294 2.11443E-5 23647 0 NA