Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-27274654-G-T c.-54G>T 5_prime_UTR_premature_start_codon_gain AGBL5 1 264 0.00378788 132 0 NA
2-27274658-AGAGGTGAGGG-A c.-49_-47+7delGAGGTGAGGG splice_donor AGBL5 1 238 0.00420168 119 0 NA
2-27275776-C-T c.-46-5C>T splice_region AGBL5 3 78090 3.84172E-5 39045 0 1.16954E-5
2-27275837-G-T p.Arg4Leu missense AGBL5 1 82224 1.21619E-5 41112 0 NA
2-27275874-A-T p.Ser16Ser synonymous AGBL5 1 82520 1.21183E-5 41260 0 NA
2-27275874-A-G p.Ser16Ser synonymous AGBL5 8 82520 9.69462E-5 41260 0 4.38488E-5
2-27275885-C-T p.Ala20Val missense AGBL5 1 82556 1.2113E-5 41278 0 NA
2-27275889-C-T p.His21His synonymous AGBL5 8 82578 9.68781E-5 41289 0 6.37425E-5
2-27275900-T-C p.Val25Ala missense+splice_region AGBL5 1 82608 1.21054E-5 41304 0 NA
2-27275904-A-C p.Glu26Asp missense AGBL5 28 82626 3.38876E-4 41313 0 3.72418E-4
2-27275911-T-A p.Ser29Thr missense AGBL5 3 82618 3.63117E-5 41309 0 3.18674E-5
2-27275911-T-C p.Ser29Pro missense AGBL5 2 82618 2.42078E-5 41309 0 8.27636E-6
2-27275914-A-G p.Ser30Gly missense AGBL5 11 82602 1.33169E-4 41301 0 9.55597E-5
2-27275917-G-A p.Asp31Asn missense AGBL5 2 82612 2.42096E-5 41306 0 3.98235E-6
2-27275917-G-C p.Asp31His missense AGBL5 3 82612 3.63143E-5 41306 0 6.37024E-5
2-27275922-G-A p.Gly32Gly synonymous AGBL5 1 82634 1.21016E-5 41317 0 8.27787E-6
2-27275935-G-GCAA p.Gly37delinsAlaSer disruptive_inframe_insertion AGBL5 1 82672 1.2096E-5 41336 0 1.19501E-5
2-27275953-A-C p.Thr43Pro missense AGBL5 2 82646 2.41996E-5 41323 0 NA
2-27275966-C-T p.Ala47Val missense AGBL5 4 82622 4.84133E-5 41311 0 1.66481E-5
2-27275974-C-G p.Pro50Ala missense AGBL5 1 82612 1.21048E-5 41306 0 3.9924E-6
2-27275991-C-T p.Asn55Asn synonymous AGBL5 1 82516 1.21189E-5 41258 0 8.42134E-6
2-27276009-C-T p.Asp61Asp synonymous AGBL5 1 82468 1.21259E-5 41234 0 NA
2-27276013-G-A p.Ala63Thr missense AGBL5 2 82442 2.42595E-5 41221 0 NA
2-27276016-G-A p.Glu64Lys missense AGBL5 3 82422 3.63981E-5 41211 0 NA
2-27276020-C-T p.Thr65Met missense+splice_region AGBL5 2 82346 2.42878E-5 41173 0 3.18532E-5
2-27276021-G-T p.Thr65Thr splice_region+synonymous AGBL5 1 82310 1.21492E-5 41155 0 NA
2-27276021-G-A p.Thr65Thr splice_region+synonymous AGBL5 1 82310 1.21492E-5 41155 0 NA
2-27276043-T-TCATGGTTCTACTTCAGCGTCCGGGGAGGAATGCCAGGAAAACTC c.215+2_215+3insCATGGTTCTACTTCAGCGTCCGGGGAGGAATGCCAGGAAAACTC splice_region AGBL5 1 82100 1.21803E-5 41050 0 NA
2-27276043-T-TCATGGTTCTACTTCAGCGTCCGGGGAGGAATGCCAGG c.215+2_215+3insCATGGTTCTACTTCAGCGTCCGGGGAGGAATGCCAGG splice_region AGBL5 1 82100 1.21803E-5 41050 0 NA
2-27276045-T-C c.215+4T>C splice_region AGBL5 3 82036 3.65693E-5 41018 0 NA
2-27276047-T-C c.215+6T>C splice_region AGBL5 1 82012 1.21933E-5 41006 0 8.84971E-6
2-27276280-T-C p.Tyr76His missense AGBL5 3 83220 3.6049E-5 41610 0 1.99008E-5
2-27276288-C-T p.Ser78Ser synonymous AGBL5 6 83236 7.20842E-5 41618 0 3.18532E-5
2-27276292-C-T p.Arg80Trp missense AGBL5 2 83246 2.40252E-5 41623 0 6.62021E-5
2-27276293-G-A p.Arg80Gln missense AGBL5 11 83244 1.32142E-4 41622 0 5.03525E-4
2-27276294-G-A p.Arg80Arg synonymous AGBL5 8 83252 9.60938E-5 41626 0 1.65456E-4
2-27276312-A-T p.Lys86Asn missense AGBL5 4 83254 4.80457E-5 41627 0 1.276E-4
2-27276320-A-G p.Lys89Arg missense AGBL5 3 83244 3.60386E-5 41622 0 1.5915E-5
2-27276328-A-G p.Ile92Val missense AGBL5 2 83246 2.40252E-5 41623 0 2.38738E-5
2-27276350-G-T p.Ser99Ile missense AGBL5 1 83182 1.20218E-5 41591 0 NA
2-27276371-T-C p.Met106Thr missense AGBL5 1 83038 1.20427E-5 41519 0 NA
2-27276373-G-GC p.Phe109fs frameshift AGBL5 1 83010 1.20467E-5 41505 0 NA
2-27276387-C-T p.Arg111Arg synonymous AGBL5 1 82926 1.20589E-5 41463 0 3.18878E-5
2-27276398-C-A p.Thr115Asn missense AGBL5 1 82818 1.20747E-5 41409 0 2.49505E-5
2-27276400-C-T p.Arg116Trp missense AGBL5 1 82794 1.20782E-5 41397 0 2.49572E-5
2-27276406-C-T p.Arg118Cys missense AGBL5 2 82708 2.41815E-5 41354 0 6.36902E-5
2-27276407-G-A p.Arg118His missense AGBL5 10 82698 1.20922E-4 41349 0 1.59236E-4
2-27276414-A-G p.Glu120Glu synonymous AGBL5 1 82638 1.2101E-5 41319 0 NA
2-27276415-C-T p.Arg121Cys missense AGBL5 2 82606 2.42113E-5 41303 0 5.01195E-5
2-27276427-C-T p.Arg125Trp missense AGBL5 5 82248 6.07918E-5 41124 0 8.40096E-6
2-27276428-G-A p.Arg125Gln missense AGBL5 3 82142 3.65221E-5 41071 0 6.37024E-5
2-27276441-G-GATGACAGAGACGCAGTTTGT c.387_387+1insATGACAGAGACGCAGTTTGT splice_donor AGBL5 3 81894 3.66327E-5 40947 1 NA
2-27276441-G-GATGACAGAGACGCAGTTTGTGTTATCCTTT c.387_387+1insATGACAGAGACGCAGTTTGTGTTATCCTTT splice_donor AGBL5 2 81896 2.44212E-5 40948 1 NA
2-27276441-G-GATGACAGAGACGCAGTTT c.387_387+1insATGACAGAGACGCAGTTT splice_donor AGBL5 1 81896 1.22106E-5 40948 0 NA
2-27276756-C-T c.388-8C>T splice_region AGBL5 1 83320 1.20019E-5 41660 0 NA
2-27276775-G-A p.Thr133Thr synonymous AGBL5 2 83368 2.399E-5 41684 0 NA
2-27276782-G-A p.Val136Met missense AGBL5 2 83380 2.39866E-5 41690 0 NA
2-27276800-C-T p.Arg142Cys missense AGBL5 1 83398 1.19907E-5 41699 0 3.18471E-5
2-27276803-T-C p.Phe143Leu missense AGBL5 3 83402 3.59704E-5 41701 0 3.18492E-5
2-27276805-C-T p.Phe143Phe synonymous AGBL5 18 83396 2.15838E-4 41698 0 5.03525E-4
2-27276806-G-A p.Val144Met missense AGBL5 3 83400 3.59712E-5 41700 0 3.29908E-5
2-27276813-G-A p.Gly146Asp missense AGBL5 1 83392 1.19916E-5 41696 0 NA
2-27276815-C-T p.Arg147Cys missense AGBL5 8 83390 9.59348E-5 41695 0 2.72044E-4
2-27276816-G-A p.Arg147His missense AGBL5 1 83384 1.19927E-5 41692 0 3.58081E-5
2-27276818-G-T p.Gly148Trp missense AGBL5 1 83392 1.19916E-5 41696 0 1.64845E-5
2-27276844-C-T p.Cys156Cys synonymous AGBL5 1 83400 1.19904E-5 41700 0 8.239E-6
2-27276850-C-T p.Pro158Pro synonymous AGBL5 1 83402 1.19901E-5 41701 0 8.239E-6
2-27276859-C-G p.Tyr161* stop_gained AGBL5 1 83392 1.19916E-5 41696 0 3.18552E-5
2-27276860-A-G p.Ser162Gly missense AGBL5 1 83390 1.19918E-5 41695 0 8.23954E-6
2-27276890-G-A p.Asp172Asn missense AGBL5 1 83384 1.19927E-5 41692 0 3.18431E-5
2-27276893-C-G p.Gln173Glu missense AGBL5 1 83388 1.19921E-5 41694 0 NA
2-27276903-C-T p.Pro176Leu missense AGBL5 13 83358 1.55954E-4 41679 0 1.71388E-4
2-27276904-G-A p.Pro176Pro synonymous AGBL5 9 83362 1.07963E-4 41681 0 2.54874E-4
2-27276905-G-A p.Glu177Lys missense AGBL5 1 83360 1.19962E-5 41680 0 2.39151E-5
2-27276913-C-T p.His179His synonymous AGBL5 1 83356 1.19967E-5 41678 0 NA
2-27276930-G-A c.551+3G>A splice_region AGBL5 1 83300 1.20048E-5 41650 0 4.04593E-6
2-27276932-C-A c.551+5C>A splice_region AGBL5 6 83300 7.20288E-5 41650 0 5.02689E-5
2-27276934-G-A c.551+7G>A splice_region AGBL5 1 83298 1.20051E-5 41649 0 3.18532E-5
2-27277499-C-A p.Pro185Thr missense+splice_region AGBL5 1 83140 1.20279E-5 41570 0 NA
2-27277499-C-T p.Pro185Ser missense+splice_region AGBL5 3 83140 3.60837E-5 41570 0 6.25E-4
2-27277515-A-G p.Tyr190Cys missense AGBL5 5 83260 6.00528E-5 41630 0 3.98549E-6
2-27277524-G-T p.Arg193Leu missense AGBL5 3 83288 3.60196E-5 41644 0 1.19501E-5
2-27277538-T-C p.Tyr198His missense AGBL5 2 83316 2.4005E-5 41658 0 NA
2-27277544-CTGGA-C p.Gly202fs frameshift AGBL5 2 83334 2.39998E-5 41667 0 8.2462E-6
2-27277550-G-A p.Gly202Arg missense AGBL5 106 83338 0.00127193 41669 2 0.00353796
2-27277554-T-G p.Leu203Arg missense AGBL5 2 83338 2.39987E-5 41669 0 6.25E-4
2-27277557-G-A p.Arg204His missense AGBL5 3 83336 3.59988E-5 41668 0 4.12058E-5
2-27277566-T-TCGGTGGTC p.Leu208fs frameshift AGBL5 1 83288 1.20065E-5 41644 0 9.74532E-5
2-27277568-CTGA-C p.Leu208_Thr209delinsPro disruptive_inframe_deletion AGBL5 1 83288 1.20065E-5 41644 0 1.0929E-4
2-27277573-G-GT p.Ile210fs frameshift AGBL5 1 83294 1.20057E-5 41647 0 1.08038E-4
2-27277577-AC-A p.Thr211fs frameshift AGBL5 1 83294 1.20057E-5 41647 0 6.8465E-5
2-27277583-T-C p.Cys213Arg missense AGBL5 2 83346 2.39964E-5 41673 0 1.64772E-5
2-27277591-G-GAAAAAA p.Gly215_Leu216insLysLys conservative_inframe_insertion AGBL5 1 83320 1.20019E-5 41660 0 6.90417E-5
2-27277596-G-A p.Arg217Gln missense AGBL5 1 83358 1.19964E-5 41679 0 3.1953E-5
2-27277602-A-G p.Asp219Gly missense AGBL5 3 83358 3.59893E-5 41679 0 NA
2-27277603-T-C p.Asp219Asp synonymous AGBL5 1 83354 1.1997E-5 41677 0 1.19303E-5
2-27277605-G-A p.Arg220Gln missense AGBL5 1 83344 1.19985E-5 41672 0 1.19303E-5
2-27277610-C-G p.Pro222Ala missense AGBL5 8 83342 9.599E-5 41671 0 8.74939E-5
2-27277615-T-A p.Arg223Arg synonymous AGBL5 1 83346 1.19982E-5 41673 0 NA
2-27277619-G-A p.Glu225Lys missense AGBL5 1 83342 1.19988E-5 41671 0 NA
2-27277624-G-A p.Gln226Gln synonymous AGBL5 2 83340 2.39981E-5 41670 0 3.97798E-6
2-27277627-A-G p.Leu227Leu synonymous AGBL5 1 83336 1.19996E-5 41668 0 6.37511E-5
2-27277651-A-G p.Arg235Arg synonymous AGBL5 1 83294 1.20057E-5 41647 0 1.19652E-5
2-27277652-C-T p.Pro236Ser missense AGBL5 2 83296 2.40108E-5 41648 0 1.65483E-5
2-27277659-G-A p.Arg238His missense AGBL5 22 83272 2.64194E-4 41636 0 4.67611E-4
2-27277663-C-T p.Phe239Phe synonymous AGBL5 12 83236 1.44168E-4 41618 0 5.04032E-4
2-27277664-G-A p.Ala240Thr missense AGBL5 2 83222 2.40321E-5 41611 0 5.03525E-4
2-27277667-G-A p.Gly241Ser missense AGBL5 3 83216 3.60508E-5 41608 0 3.99371E-6
2-27277675-G-GATATTCTTCTTAAGCA c.729_729+1insATATTCTTCTTAAGCA splice_donor AGBL5 1 83098 1.2034E-5 41549 0 NA
2-27277939-T-G c.730-4T>G splice_region AGBL5 1 83248 1.20123E-5 41624 0 NA
2-27277956-G-A p.Ser248Asn missense AGBL5 1 83312 1.20031E-5 41656 0 1.19374E-5
2-27277993-T-C p.Phe260Phe synonymous AGBL5 525 83366 0.00629753 41683 11 0.0138606
2-27278015-T-C p.Phe268Leu missense AGBL5 1 83362 1.19959E-5 41681 0 NA
2-27278025-G-A p.Arg271Gln missense AGBL5 2 83364 2.39912E-5 41682 0 1.64756E-5
2-27278039-C-T p.Arg276Trp missense AGBL5 1 83360 1.19962E-5 41680 0 NA
2-27278040-G-A p.Arg276Gln missense AGBL5 1 83362 1.19959E-5 41681 0 1.64747E-5
2-27278053-C-T p.Leu280Leu synonymous AGBL5 1 83358 1.19964E-5 41679 0 NA
2-27278055-G-A p.Arg281His missense AGBL5 2 83354 2.3994E-5 41677 0 3.18613E-5
2-27278057-C-T p.Arg282Cys missense AGBL5 1 83356 1.19967E-5 41678 0 NA
2-27278066-G-A p.Val285Ile missense AGBL5 1 83356 1.19967E-5 41678 0 1.59058E-5
2-27278071-T-C p.Phe286Phe synonymous AGBL5 1 83354 1.1997E-5 41677 0 3.18552E-5
2-27278082-C-T p.Pro290Leu missense AGBL5 1 83344 1.19985E-5 41672 0 NA
2-27278092-C-T p.Asn293Asn synonymous AGBL5 1 83326 1.20011E-5 41663 0 NA
2-27278093-C-T p.Pro294Ser missense AGBL5 2 83320 2.40038E-5 41660 0 NA
2-27278096-G-C p.Asp295His missense AGBL5 1 83308 1.20036E-5 41654 0 NA
2-27278107-C-G p.Val298Val synonymous AGBL5 3 83278 3.60239E-5 41639 0 3.18593E-5
2-27278547-C-T c.909-3C>T splice_region AGBL5 3 82484 3.63707E-5 41242 0 3.36163E-5
2-27278551-A-G p.Thr304Ala missense+splice_region AGBL5 1 82602 1.21062E-5 41301 0 NA
2-27278561-G-A p.Arg307His missense AGBL5 1 82826 1.20735E-5 41413 0 2.2293E-4
2-27278567-T-C p.Val309Ala missense AGBL5 1 82920 1.20598E-5 41460 0 NA
2-27278571-T-A p.Asn310Lys missense AGBL5 1 82964 1.20534E-5 41482 0 NA
2-27278585-A-G p.Tyr315Cys missense AGBL5 1 83076 1.20372E-5 41538 0 3.18715E-5
2-27278586-C-T p.Tyr315Tyr synonymous AGBL5 17 83068 2.04652E-4 41534 0 5.60658E-4
2-27278601-C-T p.Ala320Ala synonymous AGBL5 2 83124 2.40604E-5 41562 0 2.06036E-4
2-27278602-G-A p.Val321Ile missense AGBL5 2 83120 2.40616E-5 41560 0 1.07404E-4
2-27278607-G-A p.Leu322Leu synonymous AGBL5 1 83132 1.20291E-5 41566 0 NA
2-27278612-C-T p.Pro324Leu missense AGBL5 1 83132 1.20291E-5 41566 0 NA
2-27278617-A-G p.Ile326Val missense AGBL5 2 83160 2.405E-5 41580 0 3.97671E-6
2-27278638-C-T p.Leu333Phe missense AGBL5 1 83160 1.2025E-5 41580 0 NA
2-27278653-G-A p.Val338Met missense AGBL5 1 83174 1.2023E-5 41587 0 NA
2-27278663-G-T p.Arg341Leu missense AGBL5 1 83178 1.20224E-5 41589 0 3.97671E-6
2-27278665-C-T p.Leu342Leu synonymous AGBL5 2 83192 2.40408E-5 41596 0 NA
2-27278681-C-T p.Ser347Phe missense AGBL5 1 83222 1.20161E-5 41611 0 NA
2-27278681-C-G p.Ser347Cys missense AGBL5 1 83222 1.20161E-5 41611 0 NA
2-27278688-G-A p.Glu349Glu synonymous AGBL5 1 83226 1.20155E-5 41613 0 3.18451E-5
2-27278707-C-G p.Leu356Val missense AGBL5 2 83226 2.4031E-5 41613 0 8.2375E-6
2-27278709-C-G p.Leu356Leu synonymous AGBL5 2 83236 2.40281E-5 41618 0 3.18512E-5
2-27278718-T-C p.Asp359Asp synonymous AGBL5 1 83236 1.2014E-5 41618 0 NA
2-27278737-G-A p.Glu366Lys missense AGBL5 1 83250 1.2012E-5 41625 0 8.2375E-6
2-27278740-A-G p.Lys367Glu missense AGBL5 1 83254 1.20114E-5 41627 0 NA
2-27278749-A-C p.Asn370His missense AGBL5 2 83270 2.40183E-5 41635 0 7.55551E-5
2-27278750-A-G p.Asn370Ser missense AGBL5 11 83264 1.3211E-4 41632 0 3.50296E-4
2-27278757-A-C p.Gln372His missense AGBL5 1 83270 1.20091E-5 41635 0 3.18471E-5
2-27278757-A-G p.Gln372Gln synonymous AGBL5 2 83270 2.40183E-5 41635 0 3.97655E-6
2-27278767-C-T p.Gln376* stop_gained AGBL5 1 83280 1.20077E-5 41640 0 6.25E-4
2-27278769-G-A p.Gln376Gln synonymous AGBL5 4 83282 4.80296E-5 41641 0 3.29484E-5
2-27278792-A-C p.His384Pro missense AGBL5 2 83282 2.40148E-5 41641 0 3.1841E-5
2-27278796-C-T p.Asn385Asn synonymous AGBL5 1 83278 1.2008E-5 41639 0 4.11841E-5
2-27278797-G-A p.Ala386Thr missense AGBL5 1 83276 1.20083E-5 41638 0 4.11848E-5
2-27278866-T-C p.Ser409Pro missense AGBL5 1 83342 1.19988E-5 41671 0 NA
2-27278869-G-A p.Ala410Thr missense AGBL5 1 83338 1.19993E-5 41669 0 NA
2-27278870-C-T p.Ala410Val missense AGBL5 3 83344 3.59954E-5 41672 0 1.2355E-4
2-27278870-C-G p.Ala410Gly missense AGBL5 1 83344 1.19985E-5 41672 0 1.19292E-5
2-27278870-C-A p.Ala410Glu missense AGBL5 1 83344 1.19985E-5 41672 0 NA
2-27278871-G-A p.Ala410Ala synonymous AGBL5 3 83344 3.59954E-5 41672 0 9.55231E-5
2-27278890-CCT-C p.Pro417fs frameshift AGBL5 5 83360 5.99808E-5 41680 0 3.9763E-6
2-27278891-C-G p.Pro417Arg missense AGBL5 2 83362 2.39917E-5 41681 0 NA
2-27278892-T-G p.Pro417Pro synonymous AGBL5 1 83362 1.19959E-5 41681 0 NA
2-27278895-T-TACC p.Thr419dup disruptive_inframe_insertion AGBL5 1 83362 1.19959E-5 41681 0 NA
2-27278900-T-TC p.Lys423fs frameshift AGBL5 2 83350 2.39952E-5 41675 0 3.29587E-5
2-27278903-C-T p.Pro421Leu missense AGBL5 1 83360 1.19962E-5 41680 0 NA
2-27278905-C-T p.Pro422Ser missense AGBL5 3 83360 3.59885E-5 41680 0 1.19287E-5
2-27278905-C-A p.Pro422Thr missense AGBL5 1 83360 1.19962E-5 41680 0 1.64734E-5
2-27278906-C-A p.Pro422His missense AGBL5 9 83362 1.07963E-4 41681 0 8.23682E-5
2-27278906-C-T p.Pro422Leu missense AGBL5 1 83362 1.19959E-5 41681 0 1.64737E-5
2-27278906-C-G p.Pro422Arg missense AGBL5 4 83362 4.79835E-5 41681 0 1.2738E-4
2-27278907-C-A p.Pro422Pro synonymous AGBL5 1 83362 1.19959E-5 41681 0 2.47109E-5
2-27278920-G-A p.Val427Ile missense AGBL5 1 83364 1.19956E-5 41682 0 4.11841E-5
2-27278928-C-T p.Tyr429Tyr synonymous AGBL5 1 83354 1.1997E-5 41677 0 3.97636E-6
2-27278952-T-C p.Ala437Ala synonymous AGBL5 2 83328 2.40015E-5 41664 0 NA
2-27278976-C-T p.Tyr445Tyr synonymous AGBL5 1 83250 1.2012E-5 41625 0 0.00100705
2-27279013-A-G c.1365+7A>G splice_region AGBL5 6070 82490 0.0735847 41245 235 0.0845197
2-27279486-A-T c.1366-5A>T splice_region AGBL5 2 83140 2.40558E-5 41570 0 4.12466E-5
2-27279503-C-T p.Leu460Leu synonymous AGBL5 1 83280 1.20077E-5 41640 0 NA
2-27279532-A-C p.Ser469Ser synonymous AGBL5 4 83350 4.79904E-5 41675 0 8.26665E-6
2-27279541-C-T p.Phe472Phe synonymous AGBL5 19 83360 2.27927E-4 41680 0 3.18552E-5
2-27279542-G-A p.Asp473Asn missense AGBL5 1 83354 1.1997E-5 41677 0 3.18573E-5
2-27279545-T-G p.Phe474Val missense AGBL5 1 83364 1.19956E-5 41682 0 NA
2-27279558-A-G p.Asn478Ser missense AGBL5 4 83370 4.79789E-5 41685 0 5.03525E-4
2-27279566-G-A p.Glu481Lys missense AGBL5 3 83378 3.59807E-5 41689 0 3.18674E-5
2-27279568-G-A p.Glu481Glu synonymous AGBL5 1 83380 1.19933E-5 41690 0 NA
2-27279582-C-G p.Ala486Gly missense AGBL5 1 83384 1.19927E-5 41692 0 NA
2-27279583-C-A p.Ala486Ala synonymous AGBL5 5 83384 5.99635E-5 41692 0 0.0025
2-27279585-G-A p.Arg487Gln missense AGBL5 2 83390 2.39837E-5 41695 0 9.55718E-5
2-27279587-G-A p.Asp488Asn missense AGBL5 1 83388 1.19921E-5 41694 0 NA
2-27279591-G-A p.Arg489His missense AGBL5 42 83398 5.03609E-4 41699 0 6.25E-4
2-27279604-G-A p.Gln493Gln synonymous AGBL5 3 83384 3.59781E-5 41692 0 6.3743E-5
2-27279605-T-A p.Ser494Thr missense AGBL5 1 83386 1.19924E-5 41693 0 NA
2-27279619-C-T p.Ser498Ser synonymous AGBL5 12 83376 1.43926E-4 41688 0 2.23271E-4
2-27279620-G-A p.Gly499Ser missense AGBL5 1 83366 1.19953E-5 41683 0 NA
2-27279623-C-T p.Arg500Cys missense AGBL5 2 83368 2.399E-5 41684 0 NA
2-27279632-A-G p.Ile503Val missense AGBL5 1 83368 1.1995E-5 41684 0 NA
2-27279647-G-A p.Gly508Arg missense AGBL5 2 83318 2.40044E-5 41659 0 NA
2-27279661-G-A c.1535+1G>A splice_donor AGBL5 2 83094 2.40691E-5 41547 0 NA
2-27280163-T-G c.1536-8T>G splice_region AGBL5 1 83120 1.20308E-5 41560 0 4.04786E-6
2-27280188-A-G p.Asn518Ser missense AGBL5 2 83290 2.40125E-5 41645 0 1.65909E-5
2-27280192-C-T p.Tyr519Tyr synonymous AGBL5 2 83294 2.40113E-5 41647 0 NA
2-27280196-A-G p.Thr521Ala missense AGBL5 1 83290 1.20062E-5 41645 0 NA
2-27280202-C-T p.Arg523Cys missense AGBL5 11 83304 1.32046E-4 41652 0 6.25E-4
2-27280223-G-A p.Ala530Thr missense AGBL5 10 83288 1.20065E-4 41644 0 6.37105E-5
2-27280225-T-G p.Ala530Ala synonymous AGBL5 6 83292 7.20357E-5 41646 0 3.1841E-5
2-27280239-A-G p.Asn535Ser missense AGBL5 3 83300 3.60144E-5 41650 0 8.25587E-5
2-27280240-T-G p.Asn535Lys missense AGBL5 2 83290 2.40125E-5 41645 0 3.18552E-5
2-27280244-C-T p.Arg537Cys missense AGBL5 1 83254 1.20114E-5 41627 0 5.03525E-4
2-27280245-G-A p.Arg537His missense AGBL5 4 83280 4.80307E-5 41640 0 4.95442E-5
2-27280251-G-A p.Ser539Asn missense AGBL5 1 83264 1.201E-5 41632 0 NA
2-27280252-C-T p.Ser539Ser synonymous AGBL5 1 83266 1.20097E-5 41633 0 NA
2-27280257-C-A p.Pro541His missense AGBL5 2 83260 2.40211E-5 41630 0 8.26815E-6
2-27280257-C-G p.Pro541Arg missense AGBL5 1 83260 1.20106E-5 41630 0 3.98099E-6
2-27280259-C-T p.Pro542Ser missense AGBL5 1 83250 1.2012E-5 41625 0 NA
2-27280263-C-T p.Pro543Leu missense AGBL5 1 83252 1.20117E-5 41626 0 1.99167E-5
2-27280264-G-A p.Pro543Pro synonymous AGBL5 2 83222 2.40321E-5 41611 0 6.37796E-5
2-27280271-T-G p.Phe546Val missense AGBL5 1 83254 1.20114E-5 41627 0 NA
2-27280298-T-C p.Phe555Leu missense AGBL5 1 83180 1.20221E-5 41590 0 NA
2-27280306-G-A p.Gln557Gln splice_region+synonymous AGBL5 1 83158 1.20253E-5 41579 0 8.17154E-6
2-27280313-A-C c.1671+7A>C splice_region AGBL5 2 83114 2.40633E-5 41557 0 NA
2-27280313-A-G c.1671+7A>G splice_region AGBL5 2 83114 2.40633E-5 41557 0 8.50962E-6
2-27281261-C-T c.1672-7C>T splice_region AGBL5 2 82932 2.41161E-5 41466 0 NA
2-27281274-C-A p.Arg560Arg synonymous AGBL5 8 83128 9.62371E-5 41564 0 0.00100806
2-27281275-G-A p.Arg560Gln missense AGBL5 1 83154 1.20259E-5 41577 0 5.05051E-4
2-27281281-T-C p.Met562Thr missense AGBL5 1 83214 1.20172E-5 41607 0 NA
2-27281286-A-G p.Ile564Val missense AGBL5 11 83228 1.32167E-4 41614 0 2.63648E-4
2-27281287-T-C p.Ile564Thr missense AGBL5 1 83218 1.20166E-5 41609 0 3.97643E-6
2-27281291-A-C p.Ala565Ala synonymous AGBL5 2 83238 2.40275E-5 41619 0 NA
2-27281305-C-T p.Ala570Val missense AGBL5 1 83284 1.20071E-5 41642 0 5.76692E-5
2-27281306-G-A p.Ala570Ala synonymous AGBL5 3 83290 3.60187E-5 41645 0 6.59033E-5
2-27281317-C-T p.Pro574Leu missense AGBL5 5 83322 6.00082E-5 41661 0 8.23764E-6
2-27281318-G-A p.Pro574Pro synonymous AGBL5 7 83322 8.40114E-5 41661 0 9.55657E-5
2-27281326-G-A p.Arg577Gln missense AGBL5 1 83334 1.19999E-5 41667 0 3.97624E-6
2-27281329-T-C p.Ile578Thr missense AGBL5 2 83336 2.39992E-5 41668 0 7.41363E-5
2-27281332-T-C p.Val579Ala missense AGBL5 1 83338 1.19993E-5 41669 0 3.1841E-5
2-27281336-G-A p.Leu580Leu synonymous AGBL5 1 83340 1.1999E-5 41670 0 8.2375E-6
2-27281341-A-G p.Glu582Gly missense AGBL5 1 83342 1.19988E-5 41671 0 NA
2-27281348-C-A p.Ser584Arg missense AGBL5 1 83352 1.19973E-5 41676 0 NA
2-27281350-G-A p.Ser585Asn missense AGBL5 8 83350 9.59808E-5 41675 0 1.27405E-4
2-27281351-C-T p.Ser585Ser synonymous AGBL5 1 83352 1.19973E-5 41676 0 NA
2-27281363-A-G p.Leu589Leu synonymous AGBL5 2 83348 2.39958E-5 41674 0 3.29495E-5
2-27281367-G-A p.Ala591Thr missense AGBL5 1 83342 1.19988E-5 41671 0 8.23737E-5
2-27281370-T-C p.Trp592Arg missense AGBL5 2 83350 2.39952E-5 41675 0 3.97624E-6
2-27281376-C-T p.Leu594Leu synonymous AGBL5 1 83352 1.19973E-5 41676 0 NA
2-27281382-C-T p.His596Tyr missense AGBL5 1 83352 1.19973E-5 41676 0 NA
2-27281383-A-G p.His596Arg missense AGBL5 1 83350 1.19976E-5 41675 0 NA
2-27281383-A-T p.His596Leu missense AGBL5 8 83350 9.59808E-5 41675 0 1.27372E-4
2-27281384-T-A p.His596Gln missense AGBL5 1 83352 1.19973E-5 41676 0 NA
2-27281385-G-A p.Val597Ile missense AGBL5 2 83352 2.39946E-5 41676 0 3.97636E-6
2-27281388-C-T p.Arg598Cys missense AGBL5 3 83348 3.59937E-5 41674 0 1.73002E-4
2-27281389-G-A p.Arg598His missense AGBL5 3 83348 3.59937E-5 41674 0 5.73212E-4
2-27281398-G-A p.Arg601Gln missense AGBL5 5 83358 5.99822E-5 41679 0 4.11909E-5
2-27281411-C-G p.Ser605Arg missense AGBL5 1 83340 1.1999E-5 41670 0 1.59246E-4
2-27281421-G-A p.Val609Met missense AGBL5 2 83324 2.40027E-5 41662 0 1.64823E-5
2-27281427-G-A p.Val611Ile missense AGBL5 2 83308 2.40073E-5 41654 0 3.977E-6
2-27281429-C-T p.Val611Val synonymous AGBL5 1 83302 1.20045E-5 41651 0 NA
2-27281432-C-A p.Asn612Lys missense AGBL5 1 83290 1.20062E-5 41645 0 NA
2-27281433-A-G p.Lys613Glu missense AGBL5 5 83286 6.00341E-5 41643 0 1.27389E-4
2-27281438-G-A p.Lys614Lys synonymous AGBL5 1 83272 1.20088E-5 41636 0 3.1839E-5
2-27281439-A-C p.Arg615Arg synonymous AGBL5 1 83274 1.20085E-5 41637 0 3.97744E-6
2-27281444-C-T p.Gly616Gly synonymous AGBL5 1 83232 1.20146E-5 41616 0 NA
2-27281447-TC-AA p.LeuArg617LeuArg synonymous AGBL5 1 83222 1.20161E-5 41611 0 NA
2-27281459-C-G p.Pro621Pro synonymous AGBL5 1 83082 1.20363E-5 41541 0 NA
2-27281470-A-ATGG c.1874_1874+1insTGG splice_donor AGBL5 3 82974 3.61559E-5 41487 0 NA
2-27281474-A-G c.1874+4A>G splice_region AGBL5 1 82892 1.20639E-5 41446 0 NA
2-27282066-C-T p.Pro628Leu missense AGBL5 2 82528 2.42342E-5 41264 0 2.36333E-4
2-27282067-T-C p.Pro628Pro synonymous AGBL5 1 82596 1.21071E-5 41298 0 2.0017E-5
2-27282071-T-G p.Ser630Ala missense AGBL5 1 82656 1.20983E-5 41328 0 3.99735E-6
2-27282072-CCTG-C p.Cys631del disruptive_inframe_deletion AGBL5 1 82686 1.20939E-5 41343 0 3.18593E-5
2-27282080-G-A p.Glu633Lys missense AGBL5 3 82788 3.62371E-5 41394 0 6.37146E-5
2-27282088-C-T p.Thr635Thr synonymous AGBL5 1 82960 1.2054E-5 41480 0 NA
2-27282089-T-C p.Leu636Leu synonymous AGBL5 2 82940 2.41138E-5 41470 0 4.13387E-5
2-27282096-G-A p.Arg638Gln missense AGBL5 3 82938 3.61716E-5 41469 0 6.37105E-5
2-27282100-A-G p.Ala639Ala synonymous AGBL5 1 82974 1.2052E-5 41487 0 NA
2-27282102-G-A p.Arg640Gln missense AGBL5 4 82974 4.82079E-5 41487 0 1.59286E-4
2-27282111-G-T p.Ser643Ile missense AGBL5 1 83016 1.20459E-5 41508 0 NA
2-27282116-G-A p.Gly645Ser missense AGBL5 2 82976 2.41034E-5 41488 0 9.55414E-5
2-27282117-G-C p.Gly645Ala missense AGBL5 2 82986 2.41005E-5 41493 0 NA
2-27282126-C-T p.Ala648Val missense AGBL5 1 83084 1.2036E-5 41542 0 6.36983E-5
2-27282128-G-A p.Gly649Ser missense AGBL5 7 83116 8.42196E-5 41558 0 1.56789E-4
2-27282129-G-A p.Gly649Asp missense AGBL5 364 83136 0.00437837 41568 2 0.00866352
2-27282134-A-G p.Ser651Gly missense AGBL5 1 83166 1.20241E-5 41583 0 NA
2-27282139-C-T p.Ser652Ser synonymous AGBL5 1 83182 1.20218E-5 41591 0 NA
2-27282142-C-T p.Ser653Ser synonymous AGBL5 2 83214 2.40344E-5 41607 0 3.97747E-6
2-27282144-G-A p.Ser654Asn missense AGBL5 2 83228 2.40304E-5 41614 0 8.24484E-6
2-27282153-A-G p.Asn657Ser missense AGBL5 3 83254 3.60343E-5 41627 0 6.37186E-5
2-27282156-C-G p.Ser658Cys missense AGBL5 2 83260 2.40211E-5 41630 0 1.64883E-5
2-27282165-TGAA-T p.Lys662del disruptive_inframe_deletion AGBL5 1 83280 1.20077E-5 41640 0 NA
2-27282173-T-G p.Ser664Ala missense AGBL5 1 83284 1.20071E-5 41642 0 NA
2-27282196-C-A p.Gly671Gly synonymous AGBL5 2 83262 2.40206E-5 41631 0 NA
2-27282203-C-A p.Pro674Thr missense AGBL5 1 83248 1.20123E-5 41624 0 NA
2-27282226-C-T p.Gly681Gly synonymous AGBL5 6 83224 7.20946E-5 41612 0 6.36983E-5
2-27282229-T-A p.Ser682Ser synonymous AGBL5 1126 83188 0.0135356 41594 13 0.0183863
2-27282236-C-G p.Gln685Glu missense AGBL5 1 83202 1.20189E-5 41601 0 8.27719E-6
2-27282252-G-A p.Arg690Gln missense AGBL5 11 83122 1.32336E-4 41561 0 5.03525E-4
2-27282260-G-A p.Gly693Ser missense AGBL5 1 83108 1.20325E-5 41554 0 NA
2-27282262-C-A p.Gly693Gly synonymous AGBL5 2 83110 2.40645E-5 41555 0 NA
2-27282266-G-A p.Val695Ile missense AGBL5 248 83094 0.00298457 41547 0 0.00813517
2-27282268-C-T p.Val695Val synonymous AGBL5 3 83074 3.61124E-5 41537 0 6.36983E-5
2-27282291-C-T p.Pro703Leu missense AGBL5 2 82698 2.41844E-5 41349 0 NA
2-27282299-CAT-C p.His706fs frameshift AGBL5 3 82570 3.63328E-5 41285 0 4.01191E-5
2-27282307-C-T p.Phe708Phe synonymous AGBL5 2 82360 2.42836E-5 41180 0 5.226E-5
2-27282308-G-A p.Gly709Ser missense AGBL5 2 82322 2.42948E-5 41161 0 0.00125
2-27282328-G-A p.Trp715* stop_gained AGBL5 1 81704 1.22393E-5 40852 0 8.65636E-6
2-27282334-G-A p.Lys717Lys synonymous AGBL5 1 81516 1.22675E-5 40758 0 NA
2-27290353-TC-T c.2090-8delC splice_region AGBL5 6 82990 7.22979E-5 41495 0 6.37999E-5
2-27290357-C-G c.2090-5C>G splice_region AGBL5 1 83106 1.20328E-5 41553 0 3.3036E-5
2-27290364-C-T p.Pro698Ser missense+splice_region AGBL5 3 83180 3.60664E-5 41590 0 3.18756E-5
2-27290368-G-A p.Arg699Gln missense AGBL5 1 83208 1.20181E-5 41604 0 6.37633E-5
2-27290373-C-T p.Gln701* stop_gained AGBL5 3 83236 3.60421E-5 41618 0 6.25E-4
2-27290376-G-A p.Asp702Asn missense AGBL5 8 83252 9.60938E-5 41626 0 0.00375
2-27290377-A-C p.Asp702Ala missense AGBL5 1 83258 1.20109E-5 41629 0 NA
2-27290380-G-A p.Arg703Lys missense AGBL5 1 83280 1.20077E-5 41640 0 3.97779E-6
2-27290385-C-T p.Arg705Trp missense AGBL5 1 83284 1.20071E-5 41642 0 4.12018E-5
2-27290386-G-A p.Arg705Gln missense AGBL5 6 83284 7.20426E-5 41642 0 2.7843E-5
2-27290389-A-G p.Gln706Arg missense AGBL5 1 83298 1.20051E-5 41649 0 8.23913E-6
2-27290401-T-C p.Leu710Pro missense AGBL5 1 83316 1.20025E-5 41658 0 NA
2-27290409-C-T p.Arg713Cys missense AGBL5 3 83316 3.60075E-5 41658 0 2.78361E-5
2-27290413-C-T p.Pro714Leu missense AGBL5 1 83330 1.20005E-5 41665 0 8.23737E-5
2-27290419-GCAGC-G p.Ala719fs frameshift AGBL5 1 83324 1.20013E-5 41662 0 NA
2-27290421-A-G p.Ser717Gly missense AGBL5 1 83328 1.20008E-5 41664 0 1.23263E-4
2-27290426-C-G p.Leu718Leu synonymous AGBL5 1 83324 1.20013E-5 41662 0 NA
2-27290426-C-T p.Leu718Leu synonymous AGBL5 1 83324 1.20013E-5 41662 0 8.23696E-6
2-27290427-GCTCCATCCCCA-G p.Ala719fs frameshift AGBL5 1 83322 1.20016E-5 41661 0 NA
2-27290444-TACTA-T p.Thr725fs frameshift AGBL5 1 83336 1.19996E-5 41668 0 NA
2-27290445-A-G p.Thr725Ala missense AGBL5 1 83342 1.19988E-5 41671 0 NA
2-27290450-TTCTGGCCCAGC-T p.Ser727fs frameshift AGBL5 1 83338 1.19993E-5 41669 0 NA
2-27290464-C-A p.Ser731Tyr missense AGBL5 1 83346 1.19982E-5 41673 0 NA
2-27290466-TCAC-T p.Ser732_His733delinsTyr disruptive_inframe_deletion AGBL5 1 83350 1.19976E-5 41675 0 NA
2-27290469-C-T p.His733Tyr missense AGBL5 2 83354 2.3994E-5 41677 0 1.64737E-5
2-27290471-C-T p.His733His synonymous AGBL5 1 83352 1.19973E-5 41676 0 6.37349E-5
2-27290477-G-A p.Leu735Leu synonymous AGBL5 7 83364 8.39691E-5 41682 0 4.11834E-5
2-27290479-G-A p.Gly736Asp missense AGBL5 1 83356 1.19967E-5 41678 0 0.00251762
2-27290479-GCTC-G p.Ser737del disruptive_inframe_deletion AGBL5 1 83356 1.19967E-5 41678 0 3.18939E-5
2-27290499-T-G p.Ser743Ala missense AGBL5 13 83352 1.55965E-4 41676 0 6.25E-4
2-27290504-C-G p.Phe744Leu missense AGBL5 1 83350 1.19976E-5 41675 0 NA
2-27290507-C-T p.Asn745Asn synonymous AGBL5 1 83354 1.1997E-5 41677 0 NA
2-27290519-G-C c.2242+5G>C splice_region AGBL5 1 83344 1.19985E-5 41672 0 3.97655E-6
2-27290524-CA-TG p.Pro101Leu missense AGBL5 1 83330 1.20005E-5 41665 0 NA
2-27290524-C-T p.Pro101Leu missense AGBL5 1 83330 1.20005E-5 41665 0 8.23805E-6
2-27290525-A-G p.Pro101Pro synonymous AGBL5 52958 82666 0.640626 41333 17438 0.669647
2-27290539-C-A p.Ser106Tyr missense AGBL5 1 83298 1.20051E-5 41649 0 3.98572E-6
2-27290565-C-CAGGCCAGGTTCTTTAAGCCTAGTTGGG p.Ala116_Glu124dup conservative_inframe_insertion AGBL5 1141 82610 0.0138119 41305 11 0.021197
2-27290574-T-A p.Phe118Ile missense AGBL5 1 83038 1.20427E-5 41519 0 NA
2-27290583-C-A p.Pro121Thr missense AGBL5 2 82840 2.41429E-5 41420 0 NA
2-27290595-A-G p.Thr125Ala missense AGBL5 1 82450 1.21286E-5 41225 0 1.16653E-4
2-27290608-C-T p.Thr129Ile missense AGBL5 1 81948 1.22029E-5 40974 0 3.19305E-5
2-27290612-T-C p.Tyr130Tyr synonymous AGBL5 1 81790 1.22264E-5 40895 0 1.61151E-5
2-27290622-A-G p.Ile134Val missense AGBL5 1 81364 1.22904E-5 40682 0 5.29355E-5
2-27291522-C-T p.Ser755Ser synonymous AGBL5 1 83198 1.20195E-5 41599 0 NA
2-27291524-C-T p.Ser756Phe missense AGBL5 1 83208 1.20181E-5 41604 0 NA
2-27291544-G-A p.Val763Ile missense AGBL5 2 83266 2.40194E-5 41633 0 3.18593E-5
2-27291548-T-C p.Met764Thr missense AGBL5 1 83300 1.20048E-5 41650 0 3.97665E-6
2-27291556-G-A p.Gly767Arg missense AGBL5 3 83306 3.60118E-5 41653 0 3.18654E-5
2-27291568-C-T p.Leu771Leu synonymous AGBL5 1 83308 1.20036E-5 41654 0 NA
2-27291569-T-A p.Leu771Gln missense AGBL5 1 83308 1.20036E-5 41654 0 NA
2-27291573-G-A p.Gly772Gly synonymous AGBL5 1 83304 1.20042E-5 41652 0 9.55718E-5
2-27291587-T-C p.Met777Thr missense AGBL5 1 83294 1.20057E-5 41647 0 6.61573E-5
2-27291595-A-G p.Ile780Val missense AGBL5 6 83276 7.20496E-5 41638 0 6.37105E-5
2-27291604-C-T p.Arg783* stop_gained AGBL5 2 83238 2.40275E-5 41619 0 NA
2-27291616-A-G c.2355+4A>G splice_region AGBL5 3 83206 3.60551E-5 41603 0 9.55718E-5
2-27291912-C-T c.2356-4C>T splice_region AGBL5 6 79664 7.53163E-5 39832 0 3.44381E-5
2-27291924-G-A p.Pro788Pro synonymous AGBL5 1 79684 1.25496E-5 39842 0 4.85673E-5
2-27291926-GGA-G p.Arg790fs frameshift AGBL5 1 79680 1.25502E-5 39840 0 3.18492E-5
2-27291932-T-C p.Val791Ala missense AGBL5 13 79692 1.63128E-4 39846 0 3.18817E-5
2-27291937-G-A p.Ala793Thr missense AGBL5 1 79688 1.25489E-5 39844 0 4.86334E-5
2-27291943-AG-A p.Gly796fs frameshift AGBL5 1 79676 1.25508E-5 39838 0 3.18634E-5
2-27291945-G-A p.Arg795Arg synonymous AGBL5 2 79668 2.51042E-5 39834 0 6.89455E-6
2-27291951-C-T p.Pro797Pro synonymous AGBL5 1 79666 1.25524E-5 39833 0 6.89769E-6
2-27292445-G-T p.Arg787Met missense AGBL5 6 83126 7.21796E-5 41563 0 4.14883E-5
2-27292458-C-T p.Ala807Val missense AGBL5 1 83082 1.20363E-5 41541 0 6.25E-4
2-27292459-C-T p.Arg792Trp missense AGBL5 1 83094 1.20346E-5 41547 0 3.98756E-6
2-27292460-G-A p.Arg792Gln missense AGBL5 445 83102 0.00535486 41551 11 0.0114997
2-27292460-G-T p.Arg792Leu missense AGBL5 1 83106 1.20328E-5 41553 0 7.97334E-6
2-27292469-C-T p.Pro795Leu missense AGBL5 5 83114 6.01583E-5 41557 0 9.55597E-5
2-27292470-G-A p.Arg811His missense AGBL5 1 83102 1.20334E-5 41551 0 1.65887E-5
2-27292473-G-A p.Arg812Gln missense AGBL5 20 83096 2.40685E-4 41548 0 2.54858E-4
2-27292477-C-T p.Arg798Cys missense AGBL5 1 83114 1.20317E-5 41557 0 3.98324E-6
2-27292484-G-A p.Gly800Glu missense AGBL5 12 83138 1.44338E-4 41569 0 3.5043E-4
2-27292508-C-A p.Thr808Lys missense AGBL5 1 83008 1.2047E-5 41504 0 NA
2-27292516-A-AC p.Arg813fs frameshift AGBL5 3 82944 3.6169E-5 41472 0 NA
2-27292520-C-T p.Pro812Leu missense AGBL5 1 82946 1.2056E-5 41473 0 1.59483E-5
2-27292520-C-G p.Pro812Arg missense AGBL5 1 82946 1.2056E-5 41473 0 5.03525E-4
2-27292522-C-G p.Arg813Gly missense AGBL5 9 82942 1.0851E-4 41471 0 1.27356E-4
2-27292522-C-T p.Arg813Trp missense AGBL5 5 82942 6.02831E-5 41471 0 1.99426E-5
2-27292523-G-A p.Arg813Gln missense AGBL5 13 82922 1.56774E-4 41461 0 6.51629E-4
2-27292524-G-A p.Arg813Arg synonymous AGBL5 2 82910 2.41225E-5 41455 0 3.98915E-6
2-27292526-C-A p.Thr814Asn missense AGBL5 2 82902 2.41249E-5 41451 0 3.18431E-5
2-27292529-G-A p.Arg815Lys missense AGBL5 2 82884 2.41301E-5 41442 0 3.18552E-5
2-27292535-G-A p.Ser817Asn missense AGBL5 3 82822 3.62223E-5 41411 0 1.17275E-4
2-27292546-G-C p.Glu821Gln missense AGBL5 1 82686 1.20939E-5 41343 0 NA
2-27292550-TG-T p.Gly823fs frameshift AGBL5 1 82628 1.21024E-5 41314 0 NA
2-27292551-G-A p.Leu822Leu synonymous AGBL5 1 82596 1.21071E-5 41298 0 3.99447E-6
2-27292556-C-T p.Ser824Phe missense AGBL5 2 82480 2.42483E-5 41240 0 1.99835E-5
2-27292560-C-T p.Cys825Cys synonymous AGBL5 5 82346 6.07194E-5 41173 0 3.18593E-5
2-27292582-C-T c.2489+8C>T splice_region AGBL5 1 81522 1.22666E-5 40761 0 9.55597E-5
2-27292970-G-T p.Ala834Ser missense AGBL5 1 83296 1.20054E-5 41648 0 NA
2-27292972-C-G p.Ala834Ala synonymous AGBL5 5 83304 6.00211E-5 41652 0 2.23058E-4
2-27292972-C-T p.Ala834Ala synonymous AGBL5 1 83304 1.20042E-5 41652 0 NA
2-27292982-C-T p.Arg838Trp missense AGBL5 2 83306 2.40079E-5 41653 0 8.29765E-6
2-27292983-G-A p.Arg838Gln missense AGBL5 1 83304 1.20042E-5 41652 0 3.60956E-5
2-27292986-C-T p.Pro839Leu missense AGBL5 1 83316 1.20025E-5 41658 0 NA
2-27292988-C-T p.Arg840Cys missense AGBL5 1 83316 1.20025E-5 41658 0 1.65791E-5
2-27292988-C-G p.Arg840Gly missense AGBL5 1 83316 1.20025E-5 41658 0 4.00831E-6
2-27292989-G-A p.Arg840His missense AGBL5 985 83296 0.0118253 41648 11 0.0137845
2-27292996-C-T p.Ala842Ala synonymous AGBL5 3 83326 3.60032E-5 41663 0 1.16204E-4
2-27293000-G-A p.Ala844Thr missense AGBL5 2 83344 2.39969E-5 41672 0 5.03525E-4
2-27293002-C-A p.Ala844Ala synonymous AGBL5 2 83354 2.3994E-5 41677 0 8.28144E-6
2-27293014-A-T p.Ile848Ile synonymous AGBL5 70 83354 8.39792E-4 41677 1 0.00130857
2-27293016-C-G p.Ser849Cys missense AGBL5 1 83358 1.19964E-5 41679 0 4.00663E-6
2-27293018-TG-T p.Cys850fs frameshift AGBL5 1 83360 1.19962E-5 41680 0 4.00663E-6
2-27293021-A-T p.Ser851Cys missense AGBL5 1 83358 1.19964E-5 41679 0 3.18613E-5
2-27293022-GTCTA-G p.Ser853fs frameshift AGBL5 1 83354 1.1997E-5 41677 0 6.00995E-5
2-27293022-G-A p.Ser851Asn missense AGBL5 1 83354 1.1997E-5 41677 0 8.2802E-6
2-27293023-TC-GA p.SerLeu851ArgIle missense AGBL5 12 83356 1.43961E-4 41678 0 NA
2-27293026-A-G p.Leu852Leu synonymous AGBL5 114 83364 0.0013675 41682 1 0.00191131
2-27293032-C-T p.Asp854Asp synonymous AGBL5 51 83372 6.11716E-4 41686 0 8.91777E-4
2-27293034-C-T p.Ser855Phe missense AGBL5 1 83372 1.19944E-5 41686 0 8.2802E-6
2-27293041-C-T p.Ser857Ser synonymous AGBL5 1698 83348 0.0203724 41674 29 0.0574018
2-27293042-T-C p.Trp858Arg missense AGBL5 2 83374 2.39883E-5 41687 0 4.00663E-6
2-27293059-G-C p.Arg863Ser missense AGBL5 4 83376 4.79754E-5 41688 0 6.25E-4
2-27293090-G-C p.Val874Leu missense AGBL5 2 83374 2.39883E-5 41687 0 1.65618E-5
2-27293106-C-G p.Pro879Arg missense AGBL5 1 83366 1.19953E-5 41683 0 9.55171E-5
2-27293114-G-C p.Val882Leu missense AGBL5 2 83356 2.39935E-5 41678 0 4.00708E-6
2-27293118-C-G p.Ser883Cys missense AGBL5 2 83356 2.39935E-5 41678 0 8.28267E-6
2-27293123-C-T p.Arg885Trp missense AGBL5 1 83344 1.19985E-5 41672 0 3.18431E-5
2-27293124-G-A p.Arg885Gln missense AGBL5 1 83340 1.1999E-5 41670 0 8.28253E-6
2-27293125-G-A p.Arg885Arg synonymous AGBL5 1 83344 1.19985E-5 41672 0 2.40452E-5