Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-48999876-A-G p.Val218Ala missense AGBL4 8 82594 9.68593E-5 41297 1 NA
1-48999892-C-T p.Asp213Asn missense AGBL4 1 82628 1.21024E-5 41314 0 NA
1-48999893-C-A p.Gly212Gly synonymous AGBL4 1 82634 1.21016E-5 41317 0 1.27194E-5
1-48999897-T-TGGGG p.Lys211fs frameshift AGBL4 1 82648 1.20995E-5 41324 0 NA
1-48999898-T-TA p.Lys211fs frameshift AGBL4 1 82650 1.20992E-5 41325 0 NA
1-48999900-C-T p.Ser210Asn missense AGBL4 1 82650 1.20992E-5 41325 0 NA
1-48999907-G-A p.Pro208Ser missense AGBL4 1 82668 1.20966E-5 41334 0 3.18329E-5
1-48999913-T-C p.Asn206Asp missense AGBL4 1 82668 1.20966E-5 41334 0 4.54669E-5
1-48999917-G-A p.Ala204Ala synonymous AGBL4 1 82666 1.20969E-5 41333 0 NA
1-48999922-G-T p.Pro203Thr missense AGBL4 6 82652 7.25935E-5 41326 0 4.54628E-5
1-48999924-C-A p.Gly202Val missense AGBL4 2 82620 2.42072E-5 41310 0 NA
1-48999927-C-T p.Arg201Gln missense AGBL4 2 82620 2.42072E-5 41310 0 NA
1-48999928-G-A p.Arg201Trp missense AGBL4 2 82624 2.4206E-5 41312 0 1.91024E-5
1-48999943-T-C p.Lys196Glu missense AGBL4 1 82534 1.21162E-5 41267 0 NA
1-48999955-A-AT p.Ser192fs frameshift AGBL4 1 82224 1.21619E-5 41112 0 NA
1-48999966-C-CAA c.564-2_564-1insTT splice_acceptor AGBL4 1 82028 1.2191E-5 41014 0 NA
1-48999971-A-T c.564-6T>A splice_region AGBL4 1 81896 1.22106E-5 40948 0 NA
1-49000575-C-T p.Glu460Lys missense AGBL4 2 78308 2.55402E-5 39154 0 6.50102E-6
1-49000577-A-G p.Ile459Thr missense AGBL4 1 78294 1.27724E-5 39147 0 NA
1-49000581-C-A p.Glu458* stop_gained AGBL4 1 78268 1.27766E-5 39134 0 NA
1-49005315-G-A p.Arg455* stop_gained AGBL4 2 81502 2.45393E-5 40751 0 1.34205E-5
1-49005322-C-T p.Pro185Pro synonymous AGBL4 1 81636 1.22495E-5 40818 0 4.60969E-5
1-49005323-G-A p.Pro185Leu missense AGBL4 3 81664 3.67359E-5 40832 0 9.55962E-5
1-49005351-C-T p.Val176Met missense AGBL4 2355 81754 0.0288059 40877 185 0.0588592
1-49005352-G-A p.Pro175Pro synonymous AGBL4 1 81812 1.22231E-5 40906 0 4.63006E-5
1-49005361-C-T p.Arg172Arg synonymous AGBL4 1 81806 1.2224E-5 40903 0 NA
1-49005362-C-T p.Arg172Gln missense AGBL4 15 81806 1.83361E-4 40903 0 3.25182E-5
1-49005378-A-C p.Phe167Val missense AGBL4 2 81918 2.44147E-5 40959 0 NA
1-49005379-G-C p.Thr166Thr synonymous AGBL4 1 81918 1.22073E-5 40959 0 1.2965E-5
1-49005395-C-T p.Arg161Gln missense AGBL4 1 81708 1.22387E-5 40854 0 4.70721E-5
1-49005396-G-A p.Arg161Trp missense AGBL4 2 81672 2.44882E-5 40836 0 1.30916E-4
1-49005402-G-T p.Leu159Met missense AGBL4 1 81698 1.22402E-5 40849 0 NA
1-49005415-A-G c.467-5T>C splice_region AGBL4 2 81568 2.45194E-5 40784 0 NA
1-49052580-CT-C p.Ter299fs frameshift AGBL4 1 81982 1.21978E-5 40991 0 NA
1-49052584-C-T p.Arg298Arg synonymous AGBL4 7 82034 8.53305E-5 41017 0 1.27421E-4
1-49052595-G-T p.Pro295Thr missense AGBL4 1 82104 1.21797E-5 41052 0 NA
1-49052611-T-C p.Thr289Thr synonymous AGBL4 2 82254 2.43149E-5 41127 0 3.18593E-5
1-49052616-G-C p.Leu288Val missense AGBL4 1 82262 1.21563E-5 41131 0 NA
1-49052617-A-G p.Ser287Ser synonymous AGBL4 5 82260 6.07829E-5 41130 0 1.59327E-4
1-49052630-C-T p.Arg283Gln missense AGBL4 224 82266 0.00272287 41133 1 0.00528865
1-49052631-G-C p.Arg283Gly missense AGBL4 2 82284 2.43061E-5 41142 0 3.81346E-5
1-49052646-G-T p.Gln278Lys missense AGBL4 1 82220 1.21625E-5 41110 0 NA
1-49052648-C-T p.Gly277Asp missense AGBL4 1 82222 1.21622E-5 41111 0 NA
1-49052659-G-A p.His273His synonymous AGBL4 1 82252 1.21578E-5 41126 0 3.18492E-5
1-49052660-T-A p.His273Leu missense AGBL4 104 82204 0.00126515 41102 0 0.00141169
1-49052663-G-A p.Pro272Leu missense AGBL4 3 82266 3.64671E-5 41133 0 1.24166E-5
1-49052673-T-C p.Ile269Val missense AGBL4 1 82300 1.21507E-5 41150 0 NA
1-49052675-C-T c.466+1G>A splice_donor AGBL4 1 82290 1.21521E-5 41145 0 NA
1-49052680-T-G p.Glu154Asp missense AGBL4 5 82294 6.07578E-5 41147 0 2.16481E-4
1-49052685-C-T p.Glu153Lys missense AGBL4 1 82256 1.21572E-5 41128 0 NA
1-49052694-G-T p.Pro150Thr missense AGBL4 1 82272 1.21548E-5 41136 0 1.27502E-4
1-49052705-G-C p.Thr146Arg missense AGBL4 1 82302 1.21504E-5 41151 0 NA
1-49052718-T-G p.Ile142Leu missense AGBL4 17 82330 2.06486E-4 41165 0 1.17977E-4
1-49052732-AAGG-A p.Ser136del disruptive_inframe_deletion AGBL4 1 82324 1.21471E-5 41162 0 1.12571E-4
1-49052735-G-T p.Ser136Tyr missense AGBL4 1 82318 1.2148E-5 41159 0 NA
1-49052739-C-T p.Val135Ile missense AGBL4 1 82316 1.21483E-5 41158 0 NA
1-49052749-G-A p.Tyr131Tyr synonymous AGBL4 6 82308 7.28969E-5 41154 0 1.91939E-4
1-49052762-G-C p.Thr127Ser missense AGBL4 2 82282 2.43067E-5 41141 0 4.62967E-6
1-49052769-C-T p.Asp125Asn missense AGBL4 1 82248 1.21584E-5 41124 0 NA
1-49052781-C-T p.Gly121Ser missense AGBL4 1 82192 1.21666E-5 41096 0 3.18756E-5
1-49052781-C-A p.Gly121Cys missense AGBL4 2 82192 2.43333E-5 41096 0 NA
1-49052788-G-C p.Arg118Arg synonymous AGBL4 2 82184 2.43356E-5 41092 0 NA
1-49052789-C-T p.Arg118His missense AGBL4 4 82170 4.86796E-5 41085 0 1.65665E-5
1-49052790-G-A p.Arg118Cys missense AGBL4 2 82176 2.4338E-5 41088 0 6.25E-4
1-49052810-A-AT p.Val111fs frameshift AGBL4 1 82070 1.21847E-5 41035 0 NA
1-49052811-C-CCTTTA p.Val111fs frameshift AGBL4 1 82070 1.21847E-5 41035 0 NA
1-49052813-G-A p.Ala110Val missense AGBL4 1 82048 1.2188E-5 41024 0 4.00834E-5
1-49052814-C-T p.Ala110Thr missense AGBL4 11 82018 1.34117E-4 41009 0 0.00125
1-49052814-C-A p.Ala110Ser missense AGBL4 1 82018 1.21924E-5 41009 0 6.12415E-6
1-49052815-G-A p.Asp109Asp synonymous AGBL4 3 82010 3.65809E-5 41005 0 4.12848E-5
1-49052819-C-T p.Arg108Gln missense AGBL4 99 82006 0.00120723 41003 0 0.0025641
1-49052819-C-G p.Arg108Pro missense AGBL4 1 82008 1.21939E-5 41004 0 NA
1-49052820-G-A p.Arg108Trp missense AGBL4 4 82002 4.87793E-5 41001 0 1.85991E-5
1-49056523-A-C p.Asn95Lys missense AGBL4 1 81776 1.22285E-5 40888 0 NA
1-49056532-G-A p.Leu92Leu synonymous AGBL4 1 81884 1.22124E-5 40942 0 4.28725E-6
1-49056539-T-C p.Lys90Arg missense AGBL4 1 81958 1.22014E-5 40979 0 6.38855E-5
1-49056556-C-T p.Arg84Arg synonymous AGBL4 32 82170 3.89437E-4 41085 0 0.00101626
1-49056556-C-A p.Arg84Ser missense AGBL4 4 82170 4.86796E-5 41085 0 1.35369E-5
1-49056562-G-C p.Phe82Leu missense AGBL4 1 82242 1.21592E-5 41121 0 NA
1-49056567-G-A p.Arg81Trp missense AGBL4 3 82250 3.64742E-5 41125 0 7.70673E-5
1-49056580-A-G p.Phe76Phe synonymous AGBL4 1 82272 1.21548E-5 41136 0 1.21036E-5
1-49056595-C-T p.Met71Ile missense AGBL4 18 82258 2.18824E-4 41129 0 3.4983E-4
1-49056601-GC-G p.Gly69fs frameshift AGBL4 1 82256 1.21572E-5 41128 0 4.10576E-6
1-49056602-C-T p.Gly69Asp missense AGBL4 4 82242 4.86369E-5 41121 0 NA
1-49056609-T-C p.Met67Val missense AGBL4 2 82186 2.4335E-5 41093 0 1.80523E-4
1-49056624-C-A p.Ala62Ser missense AGBL4 1 82104 1.21797E-5 41052 0 NA
1-49056627-G-A p.His61Tyr missense AGBL4 1 82090 1.21818E-5 41045 0 NA
1-49056631-G-A p.Asp59Asp synonymous AGBL4 3 82054 3.65613E-5 41027 0 1.23519E-5
1-49056636-T-C p.Ile58Val missense AGBL4 2 82008 2.43879E-5 41004 0 8.25627E-6
1-49056636-T-A p.Ile58Phe missense AGBL4 2 82008 2.43879E-5 41004 0 7.65111E-4
1-49056637-A-G p.Tyr57Tyr synonymous AGBL4 1 81990 1.21966E-5 40995 0 4.13428E-6
1-49056649-G-T p.Ser53Arg missense AGBL4 3 81786 3.66811E-5 40893 0 3.19305E-5
1-49056653-G-A p.Thr52Ile missense AGBL4 1 81740 1.22339E-5 40870 0 NA
1-49056655-T-C p.Lys51Lys splice_region+synonymous AGBL4 2 81744 2.44666E-5 40872 0 NA
1-49099880-G-A c.*273C>T splice_region AGBL4 3 29980 1.00067E-4 14990 0 6.37349E-5
1-49100156-G-A p.Asn320Asn synonymous AGBL4 1 82192 1.21666E-5 41096 0 5.24274E-5
1-49100161-T-G p.Ser319Arg missense AGBL4 11 82224 1.33781E-4 41112 0 9.27799E-6
1-49100170-C-T p.Asp49Asn missense AGBL4 1 82252 1.21578E-5 41126 0 0.00100705
1-49100171-G-A p.Asn48Asn synonymous AGBL4 866 82234 0.0105309 41117 18 0.0227664
1-49100186-G-A p.Ile43Ile synonymous AGBL4 2 82260 2.43132E-5 41130 0 0.00100705
1-49100190-A-G p.Leu42Pro missense AGBL4 1 82252 1.21578E-5 41126 0 NA
1-49100191-GT-G p.Gln41fs frameshift AGBL4 2 82244 2.43179E-5 41122 0 8.51209E-6
1-49100203-C-CAAAGGTTCTCAACACTACAGTAACTT p.Gly38fs frameshift AGBL4 1 82186 1.21675E-5 41093 0 NA
1-49100210-G-C p.Thr35Thr synonymous AGBL4 53 82150 6.45161E-4 41075 0 0.00117834
1-49100225-T-C p.Pro30Pro synonymous AGBL4 1 82066 1.21853E-5 41033 0 5.91769E-5
1-49100243-G-A p.His24His synonymous AGBL4 1 81912 1.22082E-5 40956 0 NA
1-49100248-G-A p.Arg23Cys missense AGBL4 4 81836 4.88782E-5 40918 0 4.69631E-5
1-49100263-C-A p.Gly18* stop_gained AGBL4 1 81700 1.22399E-5 40850 0 3.18634E-5
1-49100264-C-T p.Met17Ile missense AGBL4 1 81674 1.22438E-5 40837 0 NA
1-49100274-C-T p.Cys14Tyr missense+splice_region AGBL4 3 81458 3.68288E-5 40729 0 1.84857E-5
1-49100284-G-A c.39-8C>T splice_region AGBL4 1 81180 1.23183E-5 40590 0 NA
1-49119006-T-C c.38+3A>G splice_region AGBL4 23 82394 2.79147E-4 41197 0 0.0025
1-49119018-C-T p.Gly10Asp missense AGBL4 3 82488 3.63689E-5 41244 0 0.00100806
1-49119040-T-A p.Asn3Tyr missense AGBL4 1 82572 1.21106E-5 41286 0 3.1841E-5
1-49119041-G-A p.Leu2Leu synonymous AGBL4 1 82582 1.21092E-5 41291 0 NA
1-49119052-C-T p.Ala266Thr missense AGBL4 30 82556 3.6339E-4 41278 0 0.00100705
1-49119053-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain AGBL4 1 82568 1.21112E-5 41284 0 4.75823E-6
1-49119064-C-T p.Val262Ile missense AGBL4 1 82534 1.21162E-5 41267 0 NA
1-49119070-A-G p.Tyr260His missense AGBL4 1 82498 1.21215E-5 41249 0 2.81442E-5
1-49119075-C-T p.Arg258Gln missense AGBL4 6 82496 7.27308E-5 41248 0 5.33988E-5
1-49119076-G-A p.Arg258Trp missense AGBL4 1 82490 1.21227E-5 41245 0 1.59246E-4
1-49119095-G-A p.His251His synonymous AGBL4 1 82448 1.21289E-5 41224 0 4.92073E-6
1-49119096-T-G p.His251Pro missense AGBL4 1 82440 1.213E-5 41220 0 4.95447E-6
1-49119108-A-C p.Leu247Arg missense AGBL4 1 82374 1.21398E-5 41187 0 NA
1-49119114-T-C p.Asp245Gly missense AGBL4 1 82348 1.21436E-5 41174 0 2.94759E-5
1-49119120-A-G p.Ile243Thr missense AGBL4 9 82314 1.09337E-4 41157 0 0.00100806
1-49119126-A-G c.-77-3T>C splice_region AGBL4 1 82254 1.21575E-5 41127 0 NA
1-49119127-G-A c.-77-4C>T splice_region AGBL4 1897 82200 0.0230779 41100 23 0.0417117
1-49128845-G-T p.Pro235Thr missense AGBL4 3 82756 3.62511E-5 41378 0 NA
1-49128847-G-T p.Thr234Lys missense AGBL4 1 82748 1.20849E-5 41374 0 4.01262E-6
1-49128852-C-T p.Gly232Gly synonymous AGBL4 19 82770 2.29552E-4 41385 0 0.00151057
1-49128855-T-C p.Pro231Pro synonymous AGBL4 2 82772 2.41628E-5 41386 0 4.01265E-6
1-49128859-T-A p.His230Leu missense AGBL4 3 82764 3.62476E-5 41382 0 NA
1-49128884-C-T p.Val222Met missense AGBL4 1 82746 1.20852E-5 41373 0 NA
1-49128902-C-T p.Glu216Lys missense AGBL4 6 82698 7.25531E-5 41349 0 4.77829E-4
1-49128902-CC-TT p.ArgGlu215ArgLys missense AGBL4 58 82698 7.01347E-4 41349 0 NA
1-49128903-C-T p.Arg215Arg synonymous AGBL4 7 82698 8.46453E-5 41349 0 4.77859E-4
1-49128904-C-T p.Arg215Gln missense AGBL4 836 82680 0.0101113 41340 27 0.0221202
1-49128905-G-A p.Arg215Trp missense AGBL4 2 82692 2.41861E-5 41346 0 6.37146E-5
1-49128905-G-T p.Arg215Arg synonymous AGBL4 1 82692 1.20931E-5 41346 0 3.18573E-5
1-49128917-T-C c.-167-4A>G splice_region AGBL4 2 82606 2.42113E-5 41303 0 NA
1-49283878-C-T p.Trp217* stop_gained AGBL4 1 52200 1.91571E-5 26100 0 NA
1-49283897-G-A c.635-3C>T splice_region AGBL4 18 52374 3.43682E-4 26187 0 0.00127364
1-49283898-C-A c.635-4G>T splice_region AGBL4 3 52356 5.73E-5 26178 0 1.21153E-4
1-49283898-C-T c.635-4G>A splice_region AGBL4 1 52356 1.91E-5 26178 0 3.1841E-5
1-49283899-G-A c.635-5C>T splice_region AGBL4 1 52358 1.90993E-5 26179 0 1.8173E-4
1-49283899-G-T c.635-5C>A splice_region AGBL4 2 52358 3.81986E-5 26179 0 NA
1-49332864-A-G p.Pro211Pro splice_region+synonymous AGBL4 1 82324 1.21471E-5 41162 0 NA
1-49332876-C-A p.Thr207Thr synonymous AGBL4 6 82390 7.28244E-5 41195 0 4.0281E-5
1-49332876-C-T p.Thr207Thr synonymous AGBL4 1 82390 1.21374E-5 41195 0 8.59742E-6
1-49332877-G-T p.Thr207Lys missense AGBL4 1 82402 1.21356E-5 41201 0 NA
1-49332879-C-T p.Leu206Leu synonymous AGBL4 1 82438 1.21303E-5 41219 0 NA
1-49332895-C-T p.Arg201Gln missense AGBL4 1 82444 1.21294E-5 41222 0 3.4534E-5
1-49332896-G-A p.Arg201* stop_gained AGBL4 1 82448 1.21289E-5 41224 0 1.20875E-5
1-49332904-T-A c.595-2A>T splice_acceptor AGBL4 1 82432 1.21312E-5 41216 0 NA
1-49332905-G-T c.595-3C>A splice_region AGBL4 2 82444 2.42589E-5 41222 0 4.03359E-6
1-49332907-A-AT c.595-6_595-5insA splice_region AGBL4 1 82426 1.21321E-5 41213 0 NA
1-49332908-A-ATTCTAGGGTC c.595-7_595-6insGACCCTAGAA splice_region AGBL4 1 82414 1.21339E-5 41207 0 NA
1-49332909-A-C c.595-7T>G splice_region AGBL4 3 82422 3.63981E-5 41211 0 6.25E-4
1-49511248-G-A c.594+8C>T splice_region AGBL4 4303 81628 0.0527148 40814 117 0.0786844
1-49511258-C-T p.Val198Met missense+splice_region AGBL4 3 81894 3.66327E-5 40947 0 3.1835E-5
1-49511262-C-G p.Gln196His missense AGBL4 7 81918 8.54513E-5 40959 0 0.0020202
1-49511273-G-A p.Gln193* stop_gained AGBL4 2 81974 2.4398E-5 40987 0 3.01741E-5
1-49511275-TC-T p.Glu192fs frameshift AGBL4 3 81970 3.65988E-5 40985 0 4.26894E-6
1-49511278-C-T p.Arg191Gln missense AGBL4 2 81998 2.43908E-5 40999 0 9.55657E-5
1-49511285-A-C p.Phe189Val missense AGBL4 1 82074 1.21841E-5 41037 0 4.26862E-6
1-49511295-G-A p.Asn185Asn synonymous AGBL4 1 82102 1.218E-5 41051 0 NA
1-49511307-C-T p.Leu181Leu synonymous AGBL4 1 82158 1.21717E-5 41079 0 1.52367E-4
1-49511310-G-C p.Ser180Arg missense AGBL4 1 82170 1.21699E-5 41085 0 NA
1-49511310-G-A p.Ser180Ser synonymous AGBL4 3 82170 3.65097E-5 41085 0 3.50341E-4
1-49511311-C-T p.Ser180Asn missense AGBL4 778 82174 0.00946771 41087 15 0.0383451
1-49511333-G-C p.Arg173Gly missense AGBL4 1 82306 1.21498E-5 41153 0 6.25E-4
1-49511337-G-A p.Tyr171Tyr synonymous AGBL4 2 82328 2.42931E-5 41164 0 NA
1-49511346-T-C p.Pro168Pro synonymous AGBL4 1 82376 1.21395E-5 41188 0 2.41406E-5
1-49511352-G-A p.Cys166Cys synonymous AGBL4 1 82398 1.21362E-5 41199 0 NA
1-49511364-C-A p.Gln162His missense AGBL4 1 82440 1.213E-5 41220 0 NA
1-49511373-ATCT-A p.Glu158del disruptive_inframe_deletion AGBL4 1 82458 1.21274E-5 41229 0 NA
1-49511384-G-A p.Arg156* stop_gained AGBL4 1 82434 1.21309E-5 41217 0 1.86488E-5
1-49511406-C-T p.Met148Ile missense AGBL4 1 82364 1.21412E-5 41182 0 6.28409E-6
1-49511413-T-C p.Tyr146Cys missense AGBL4 1 82328 1.21465E-5 41164 0 3.18431E-5
1-49511415-G-T p.Asn145Lys missense AGBL4 1 82306 1.21498E-5 41153 0 NA
1-49511424-A-G p.His142His synonymous AGBL4 16171 81852 0.197564 40926 1793 0.228886
1-49511431-G-A p.Pro140Leu missense AGBL4 7 82110 8.52515E-5 41055 0 6.36943E-5
1-49511437-C-T p.Arg138His missense AGBL4 1 82008 1.21939E-5 41004 0 4.38059E-5
1-49511458-G-T p.Pro131His missense AGBL4 3 81608 3.67611E-5 40804 0 6.25E-4
1-49711468-C-T p.Met117Ile missense AGBL4 1 81970 1.21996E-5 40985 0 NA
1-49711472-G-T p.Pro116His missense AGBL4 1 81996 1.21957E-5 40998 0 NA
1-49711486-T-G p.Arg111Ser missense AGBL4 1 81978 1.21984E-5 40989 0 NA
1-49711489-A-G p.Tyr110Tyr synonymous AGBL4 12 81930 1.46466E-4 40965 0 2.87136E-4
1-49711519-A-G p.Ile100Ile synonymous AGBL4 5 81760 6.11546E-5 40880 0 2.233E-4
1-49711536-T-C p.Arg95Gly missense+splice_region AGBL4 1 81464 1.22754E-5 40732 0 4.68867E-5
1-50162979-C-T c.282+6G>A splice_region AGBL4 2 81926 2.44123E-5 40963 0 1.27405E-4
1-50162991-T-C p.Glu92Glu synonymous AGBL4 1 81990 1.21966E-5 40995 0 6.40082E-6
1-50163007-A-G p.Val87Ala missense AGBL4 2 82022 2.43837E-5 41011 0 6.40008E-6
1-50163019-A-T p.Phe83Tyr missense AGBL4 1 82022 1.21919E-5 41011 0 NA
1-50163035-G-A p.Arg78Cys missense AGBL4 2 82020 2.43843E-5 41010 0 0.00252525
1-50163051-C-T p.Pro72Pro synonymous AGBL4 4 81990 4.87864E-5 40995 0 4.60999E-5
1-50163052-G-A p.Pro72Leu missense AGBL4 20 81998 2.43908E-4 40999 0 7.32717E-4
1-50163055-C-G p.Arg71Thr missense AGBL4 1 81996 1.21957E-5 40998 0 NA
1-50163061-A-T p.Phe69Tyr missense AGBL4 1 81958 1.22014E-5 40979 0 NA
1-50163066-A-T p.Asp67Glu missense AGBL4 2 81908 2.44176E-5 40954 0 NA
1-50163071-A-G p.Tyr66His missense AGBL4 1 81854 1.22169E-5 40927 0 NA
1-50163080-CAG-C p.Ser62fs frameshift AGBL4 2 81636 2.4499E-5 40818 0 5.7617E-5
1-50163098-G-A p.Arg57Trp missense AGBL4 6 81114 7.397E-5 40557 0 9.78838E-4
1-50163105-G-T p.Asn54Lys missense AGBL4 3 80950 3.70599E-5 40475 0 1.30433E-5
1-50163108-A-G p.Gly53Gly splice_region+synonymous AGBL4 2 80744 2.47696E-5 40372 0 NA
1-50163109-C-T p.Gly53Asp missense+splice_region AGBL4 2 80698 2.47838E-5 40349 0 3.18654E-5
1-50163116-AT-A c.158-8delA splice_region AGBL4 16 80536 1.98669E-4 40268 0 2.54907E-4
1-50317063-C-T c.157+5G>A splice_region AGBL4 1 82102 1.218E-5 41051 0 6.57704E-6
1-50317079-C-A p.Cys49Phe missense AGBL4 1 82114 1.21782E-5 41057 0 NA
1-50317110-G-C p.Pro39Ala missense AGBL4 1 82216 1.21631E-5 41108 0 NA
1-50317121-T-C p.Tyr35Cys missense AGBL4 1 82280 1.21536E-5 41140 0 1.27948E-5
1-50317124-C-A p.Gly34Val missense AGBL4 50 82276 6.07711E-4 41138 0 0.00140154
1-50317126-A-G p.Thr33Thr synonymous AGBL4 2 82282 2.43067E-5 41141 1 9.17431E-5
1-50317143-A-AT p.Tyr28fs frameshift AGBL4 1 82338 1.21451E-5 41169 0 NA
1-50317149-T-C p.Ser26Gly missense AGBL4 1 82360 1.21418E-5 41180 0 1.28156E-5
1-50317165-G-T p.Ala20Ala synonymous AGBL4 1 82386 1.2138E-5 41193 0 2.74123E-4
1-50317166-GCAT-G p.Asp19del disruptive_inframe_deletion AGBL4 1 82382 1.21386E-5 41191 0 NA
1-50317167-C-T p.Ala20Thr missense AGBL4 1 82384 1.21383E-5 41192 0 NA
1-50317181-A-C p.Met15Arg missense AGBL4 1 82374 1.21398E-5 41187 0 1.30334E-5
1-50317189-G-T p.Gly12Gly splice_region+synonymous AGBL4 2 82344 2.42884E-5 41172 0 NA
1-50317190-C-A p.Gly12Val missense+splice_region AGBL4 3 82338 3.64352E-5 41169 0 6.77452E-6
1-50317197-A-T c.35-7T>A splice_region AGBL4 22 82322 2.67243E-4 41161 0 7.89376E-4
1-50489428-C-A c.34+7G>T splice_region AGBL4 1 79948 1.25081E-5 39974 0 3.18431E-5
1-50489428-C-G c.34+7G>C splice_region AGBL4 1 79948 1.25081E-5 39974 0 3.78665E-4
1-50489432-G-A c.34+3C>T splice_region AGBL4 2 79904 2.503E-5 39952 0 3.18512E-5
1-50489451-C-G p.Gln6His missense AGBL4 2 80256 2.49203E-5 40128 0 9.55779E-5
1-50489463-C-T p.Ala2Ala synonymous AGBL4 2 80278 2.49134E-5 40139 0 NA
1-50489467-A-G p.Met1? start_lost AGBL4 2 80286 2.49109E-5 40143 0 NA
1-50489509-G-A c.-41C>T 5_prime_UTR_premature_start_codon_gain AGBL4 75 80028 9.37172E-4 40014 1 0.00143422
1-50489524-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain AGBL4 77 79702 9.66099E-4 39851 0 0.00124299
1-50489550-G-C c.-82C>G 5_prime_UTR_premature_start_codon_gain AGBL4 3 78354 3.82878E-5 39177 0 NA
1-50489575-G-A c.-107C>T 5_prime_UTR_premature_start_codon_gain AGBL4 1 74796 1.33697E-5 37398 0 NA