Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-135606436-C-T c.*347G>A splice_region AHI1 2 14118 1.41663E-4 7059 0 3.1835E-5
6-135606519-G-GATGCAATTACTAACAATAT n.402_420dupATATTGTTAGTAATTGCAT splice_region AHI1 2 38450 5.20156E-5 19225 0 NA
6-135606766-A-G p.Ter668Glnext*? stop_lost AHI1 1 81434 1.22799E-5 40717 0 NA
6-135606770-T-C p.Lys666Lys synonymous AHI1 18 81422 2.2107E-4 40711 0 1.35695E-4
6-135606776-C-T p.Leu664Leu synonymous AHI1 2 81390 2.4573E-5 40695 0 NA
6-135606785-A-C p.Ter1197Gluext*? stop_lost AHI1 1 81330 1.22956E-5 40665 0 NA
6-135606788-G-A c.3589-3C>T splice_region AHI1 3 81318 3.68922E-5 40659 0 1.14286E-5
6-135611560-C-T c.3588+1G>A splice_donor AHI1 4 79064 5.05919E-5 39532 0 1.27397E-4
6-135611561-C-T p.Glu1196Glu splice_region+synonymous AHI1 5 79110 6.32031E-5 39555 0 2.43536E-5
6-135611567-T-C p.Leu1194Leu synonymous AHI1 2 79196 2.52538E-5 39598 0 NA
6-135611570-A-G p.Thr1193Thr synonymous AHI1 197 79268 0.00248524 39634 2 0.00534998
6-135611573-G-C p.Val1192Val synonymous AHI1 1 79316 1.26078E-5 39658 0 NA
6-135611585-T-C p.Ala1188Ala synonymous AHI1 2 79410 2.51857E-5 39705 0 8.2813E-6
6-135611588-T-G p.Gln1187His missense AHI1 1 79438 1.25884E-5 39719 0 NA
6-135611593-T-C p.Lys1186Glu missense AHI1 1 79452 1.25862E-5 39726 0 8.28102E-6
6-135611594-G-A p.Asn1185Asn synonymous AHI1 1 79466 1.2584E-5 39733 0 NA
6-135611595-T-C p.Asn1185Ser missense AHI1 1 79480 1.25818E-5 39740 0 NA
6-135611603-C-T p.Met1182Ile missense AHI1 78 79494 9.81206E-4 39747 2 0.00213321
6-135611607-C-T p.Arg1181Gln missense AHI1 2 79500 2.51572E-5 39750 0 3.64688E-5
6-135611608-G-A p.Arg1181Trp missense AHI1 1 79508 1.25774E-5 39754 0 8.28075E-6
6-135611614-C-A p.Asp1179Tyr missense AHI1 10 79512 1.25767E-4 39756 0 6.25E-4
6-135611623-G-A p.His1176Tyr missense AHI1 1 79520 1.25755E-5 39760 0 4.05249E-6
6-135611639-G-A p.Ser1170Ser synonymous AHI1 2 79486 2.51617E-5 39743 0 8.10741E-6
6-135611645-T-C p.Glu1168Glu synonymous AHI1 4 79478 5.03284E-5 39739 0 NA
6-135611646-T-C p.Glu1168Gly missense AHI1 114 79466 0.00143458 39733 0 0.00103627
6-135611654-C-T p.Met1165Ile missense AHI1 1 79450 1.25865E-5 39725 0 NA
6-135611666-A-G c.3486-3T>C splice_region AHI1 3 79396 3.77853E-5 39698 0 4.05627E-6
6-135611667-T-C c.3486-4A>G splice_region AHI1 1 79404 1.25938E-5 39702 0 4.14086E-5
6-135618612-C-T p.Lys17Lys synonymous AHI1 1 10462 9.5584E-5 5231 0 NA
6-135621632-G-A c.3485+6C>T splice_region AHI1 1 82150 1.21729E-5 41075 0 3.18857E-5
6-135621638-T-C p.His1162Arg missense+splice_region AHI1 1 82206 1.21646E-5 41103 0 3.18796E-5
6-135621639-G-A p.Gln11* stop_gained AHI1 1 82228 1.21613E-5 41114 0 6.37674E-5
6-135621643-C-T p.Met1160Ile missense AHI1 2 82296 2.43025E-5 41148 0 3.19326E-5
6-135621645-T-C p.Met1160Val missense AHI1 2 82302 2.43007E-5 41151 0 3.18878E-5
6-135621660-G-A p.Leu1155Leu synonymous AHI1 1 82362 1.21415E-5 41181 0 4.13005E-6
6-135621662-C-T p.Arg1154Lys missense AHI1 1 82364 1.21412E-5 41182 0 NA
6-135621664-G-C p.Phe1153Leu missense AHI1 2 82366 2.42819E-5 41183 0 NA
6-135621667-G-A p.Asp1152Asp synonymous AHI1 1 82362 1.21415E-5 41181 0 1.65589E-5
6-135621675-A-T p.Ser1150Thr missense AHI1 5 82366 6.07047E-5 41183 0 1.27657E-4
6-135621685-A-G p.Asn1146Asn synonymous AHI1 1 82346 1.21439E-5 41173 0 NA
6-135621690-T-C p.Ile1145Val missense AHI1 1 82340 1.21448E-5 41170 0 1.40284E-5
6-135621701-GGAA-G c.3427-8_3427-6delTTC splice_region AHI1 2 82308 2.4299E-5 41154 0 2.10609E-4
6-135623852-A-G c.*95T>C splice_region AHI1 1 33590 2.97708E-5 16795 0 NA
6-135623953-T-C p.Val497Val splice_region+synonymous AHI1 2 33798 5.91751E-5 16899 0 NA
6-135623963-C-T c.1489-8G>A splice_region AHI1 1 33788 2.95963E-5 16894 0 3.13165E-5
6-135639651-A-T c.3426+6T>A splice_region AHI1 4 81600 4.90196E-5 40800 0 5.17872E-6
6-135639651-A-G c.3426+6T>C splice_region AHI1 1 81600 1.22549E-5 40800 0 NA
6-135639661-T-C p.Gln1141Arg missense AHI1 3 81776 3.66856E-5 40888 0 4.87363E-6
6-135639665-G-A p.Pro1140Ser missense AHI1 73 81836 8.92028E-4 40918 0 0.0050813
6-135639669-T-C p.Pro1138Pro synonymous AHI1 2 81906 2.44182E-5 40953 0 2.00868E-5
6-135639682-A-G p.Ile1134Thr missense AHI1 4 82042 4.87555E-5 41021 0 3.18979E-5
6-135639688-G-C p.Thr1132Ser missense AHI1 4 82076 4.87353E-5 41038 0 6.25782E-4
6-135639689-T-A p.Thr1132Ser missense AHI1 1 82066 1.21853E-5 41033 0 NA
6-135639696-C-T p.Glu1129Glu synonymous AHI1 2 82054 2.43742E-5 41027 0 NA
6-135639698-CAGGGCTTAAAGG-C p.Pro1125_Pro1128del conservative_inframe_deletion AHI1 1 82072 1.21844E-5 41036 0 3.18979E-5
6-135639702-G-A p.Ser1127Ser synonymous AHI1 3 82076 3.65515E-5 41038 0 1.27138E-5
6-135639713-G-A p.Pro1124Ser missense AHI1 2 82048 2.4376E-5 41024 0 NA
6-135639715-G-A p.Ser1123Phe missense AHI1 418 82020 0.00509632 41010 4 0.00960534
6-135639718-C-T p.Arg1122Gln missense AHI1 4 82022 4.87674E-5 41011 0 1.55068E-5
6-135639726-T-C p.Ile1119Met missense AHI1 1 82000 1.21951E-5 41000 0 NA
6-135639741-T-C p.Glu1114Glu synonymous AHI1 7 81900 8.54701E-5 40950 0 0.00100806
6-135639761-T-C c.3329-7A>G splice_region AHI1 25 81522 3.06666E-4 40761 1 6.25E-4
6-135644310-C-A p.Val1106Val synonymous AHI1 1 82596 1.21071E-5 41298 0 NA
6-135644327-A-G p.Phe1101Leu missense AHI1 1 82682 1.20945E-5 41341 0 NA
6-135644337-C-T p.Gln1097Gln synonymous AHI1 2 82684 2.41885E-5 41342 0 1.68197E-5
6-135644342-C-T p.Gly1096Arg missense AHI1 1 82704 1.20913E-5 41352 0 3.18674E-5
6-135644343-C-T p.Lys1095Lys synonymous AHI1 4 82714 4.83594E-5 41357 0 4.01684E-6
6-135644350-A-G p.Ile1093Thr missense AHI1 5 82718 6.04463E-5 41359 0 2.81082E-5
6-135644354-T-G p.Ser1092Arg missense AHI1 5 82728 6.0439E-5 41364 0 3.18451E-5
6-135644357-C-T p.Gly1091Ser missense AHI1 2 82720 2.41779E-5 41360 0 4.81765E-5
6-135644359-T-C p.Tyr1090Cys missense AHI1 1 82714 1.20899E-5 41357 0 NA
6-135644361-C-A p.Trp1089Cys missense AHI1 2 82716 2.41791E-5 41358 0 8.37395E-6
6-135644371-T-C p.Glu1086Gly missense AHI1 67 82702 8.10138E-4 41351 1 0.00383537
6-135644383-A-C p.Phe1082Cys missense AHI1 4 82680 4.83793E-5 41340 0 3.61484E-5
6-135644392-C-T p.Arg1079Gln missense AHI1 2 82676 2.41908E-5 41338 0 3.3869E-5
6-135644393-G-A p.Arg1079* stop_gained AHI1 1 82672 1.2096E-5 41336 0 2.54035E-5
6-135644399-T-C p.Ile1077Val missense AHI1 1 82658 1.2098E-5 41329 0 3.18573E-5
6-135644405-C-T p.Gly1075Arg missense AHI1 5 82660 6.04888E-5 41330 0 0.00125
6-135644411-G-T p.His1073Asn missense AHI1 1 82650 1.20992E-5 41325 0 2.56845E-5
6-135644414-T-C p.Ile1072Val missense AHI1 1 82648 1.20995E-5 41324 0 NA
6-135644416-G-A p.Thr1071Ile missense AHI1 1 82644 1.21001E-5 41322 0 4.02168E-6
6-135644416-G-C p.Thr1071Ser missense AHI1 1 82644 1.21001E-5 41322 0 2.57648E-5
6-135644422-T-C p.Glu1069Gly missense AHI1 1 82648 1.20995E-5 41324 0 3.18492E-5
6-135644431-C-T p.Arg1066Gln missense AHI1 4 82634 4.84062E-5 41317 0 4.83061E-5
6-135644431-C-G p.Arg1066Pro missense AHI1 1 82634 1.21016E-5 41317 0 3.48286E-5
6-135644432-G-A p.Arg1066* stop_gained AHI1 17 82630 2.05736E-4 41315 0 6.36943E-5
6-135644432-G-C p.Arg1066Gly missense AHI1 1 82630 1.21021E-5 41315 0 8.71581E-6
6-135644436-C-T p.Ala1064Ala synonymous AHI1 16 82632 1.9363E-4 41316 0 0.00100705
6-135644440-G-A p.Thr1063Ile missense AHI1 1 82636 1.21013E-5 41318 0 1.2738E-4
6-135644442-G-GTAGTCATAAAGA p.Tyr1062_Thr1063insLeuTyrAspTyr disruptive_inframe_insertion AHI1 1 82630 1.21021E-5 41315 0 4.02589E-6
6-135644444-A-G p.Tyr1062His missense AHI1 2 82626 2.42055E-5 41313 0 NA
6-135679263-G-T c.3165+7C>A splice_region AHI1 1 81954 1.2202E-5 40977 0 NA
6-135679270-C-T p.Thr1055Thr splice_region+synonymous AHI1 1 82008 1.21939E-5 41004 0 8.28061E-6
6-135679271-G-A p.Thr1055Met missense+splice_region AHI1 50 82018 6.09622E-4 41009 0 0.00140127
6-135679275-G-C p.Pro1054Ala missense AHI1 4 82036 4.87591E-5 41018 0 6.37186E-5
6-135679276-T-A p.Ala1053Ala synonymous AHI1 1 82040 1.21892E-5 41020 0 2.8162E-5
6-135679278-C-T p.Ala1053Thr missense AHI1 1 82064 1.21856E-5 41032 0 8.05276E-6
6-135679292-T-A p.His1048Leu missense AHI1 1 82080 1.21832E-5 41040 0 4.0211E-6
6-135679292-T-G p.His1048Pro missense AHI1 1 82080 1.21832E-5 41040 0 8.28061E-6
6-135679306-TC-T p.Arg1043fs frameshift AHI1 1 82090 1.21818E-5 41045 0 3.18431E-5
6-135679324-C-G p.Gly1037Gly splice_region+synonymous AHI1 5 82032 6.09518E-5 41016 0 2.01634E-5
6-135679327-T-C c.3110-2A>G splice_acceptor AHI1 1 81998 1.21954E-5 40999 0 8.28075E-6
6-135709122-G-A p.His1053His synonymous AHI1 1 79560 1.25691E-5 39780 0 1.21834E-5
6-135709123-T-C p.His1053Arg missense AHI1 2 79556 2.51395E-5 39778 0 8.38097E-6
6-135709123-T-G p.His1053Pro missense AHI1 14 79556 1.75977E-4 39778 0 5.18672E-4
6-135709125-C-CT p.His1053fs frameshift AHI1 1 79560 1.25691E-5 39780 0 NA
6-135709136-A-G p.Trp1049Arg missense AHI1 1 79596 1.25634E-5 39798 0 NA
6-135709137-TAA-T p.Leu1048fs frameshift AHI1 2 79612 2.51218E-5 39806 0 3.18552E-5
6-135709140-TA-T p.Ile1047fs frameshift AHI1 2 79594 2.51275E-5 39797 0 3.18552E-5
6-135709142-TACA-T p.Cys1046del conservative_inframe_deletion AHI1 2 79608 2.51231E-5 39804 0 3.18532E-5
6-135709148-T-C p.Thr1045Ala missense AHI1 7 79614 8.79242E-5 39807 0 8.60092E-4
6-135709164-G-A p.His1039His synonymous AHI1 1 79580 1.2566E-5 39790 0 6.25E-4
6-135715835-T-C p.Ter129Trpext*? stop_lost AHI1 1 80868 1.23658E-5 40434 0 NA
6-135715861-A-G p.Cys120Cys synonymous AHI1 3 81542 3.67909E-5 40771 0 1.10652E-4
6-135715871-T-C p.Asp117Gly missense AHI1 1 81720 1.22369E-5 40860 0 3.13489E-5
6-135715889-T-C p.Asn111Ser missense AHI1 6 81944 7.32207E-5 40972 0 6.25E-4
6-135715895-A-C p.Phe109Cys missense AHI1 1 81990 1.21966E-5 40995 0 NA
6-135715902-A-T p.Ser107Thr missense AHI1 1 82072 1.21844E-5 41036 0 NA
6-135715906-G-A c.3109+8C>T splice_region AHI1 3 82108 3.65372E-5 41054 0 2.86289E-5
6-135715908-G-A p.Pro105Ser missense AHI1 1 82108 1.21791E-5 41054 0 NA
6-135715914-C-T p.Gly1037Arg missense+splice_region AHI1 1 82144 1.21737E-5 41072 0 3.42583E-5
6-135715915-G-A p.Thr1036Thr splice_region+synonymous AHI1 5 82148 6.08658E-5 41074 0 4.54794E-5
6-135715924-G-A p.Phe1033Phe synonymous AHI1 1 82208 1.21643E-5 41104 0 NA
6-135715929-C-T p.Gly1032Ser missense AHI1 1 82236 1.21601E-5 41118 0 NA
6-135715947-C-T p.Glu1026Lys missense AHI1 2 82286 2.43055E-5 41143 0 3.18735E-5
6-135715947-CTT-C p.Gln1025fs frameshift AHI1 1 82286 1.21527E-5 41143 0 1.16558E-5
6-135715953-C-T p.Ala1024Thr missense AHI1 3 82310 3.64476E-5 41155 0 9.47015E-5
6-135715953-C-G p.Ala1024Pro missense AHI1 1 82310 1.21492E-5 41155 0 NA
6-135715954-G-A p.Thr1023Thr synonymous AHI1 1 82304 1.21501E-5 41152 0 NA
6-135715954-G-C p.Thr1023Thr synonymous AHI1 1 82304 1.21501E-5 41152 0 3.18654E-5
6-135715970-T-G p.Gln1018Pro missense AHI1 610 82396 0.00740327 41198 26 0.0151988
6-135715973-T-C p.Lys1017Arg missense AHI1 1 82410 1.21345E-5 41205 0 NA
6-135715984-C-T p.Gln1013Gln synonymous AHI1 99 82394 0.00120154 41197 0 0.00194453
6-135715990-T-C p.Ser1011Ser synonymous AHI1 11 82422 1.3346E-4 41211 0 9.56328E-5
6-135715991-G-C p.Ser1011* stop_gained AHI1 10 82432 1.21312E-4 41216 0 8.1281E-5
6-135716001-C-A p.Ala1008Ser missense AHI1 3 82410 3.64033E-5 41205 0 4.28603E-6
6-135716004-G-C p.Pro1007Ala missense AHI1 1 82424 1.21324E-5 41212 0 NA
6-135716007-G-A p.Pro1006Ser missense AHI1 2 82422 2.42654E-5 41211 0 NA
6-135716008-T-C p.Ser1005Ser synonymous AHI1 2053 82340 0.0249332 41170 46 0.026875
6-135716011-A-G p.Thr1004Thr synonymous AHI1 2 82406 2.42701E-5 41203 0 3.06826E-5
6-135716026-T-TTTACAC p.Lys999_Asn1000insCysLys disruptive_inframe_insertion AHI1 1 82332 1.21459E-5 41166 0 NA
6-135716029-G-GACAAA p.Lys999fs frameshift AHI1 1 82308 1.21495E-5 41154 0 NA
6-135716034-C-CAAA c.2989-1_2989insTTT splice_acceptor AHI1 1 82260 1.21566E-5 41130 0 NA
6-135716035-C-T c.2989-1G>A splice_acceptor AHI1 1 82240 1.21595E-5 41120 0 NA
6-135716037-G-A c.2989-3C>T splice_region AHI1 1 82212 1.21637E-5 41106 0 NA
6-135716041-T-C c.2989-7A>G splice_region AHI1 1 82150 1.21729E-5 41075 0 4.7069E-6
6-135726088-CT-C p.Val997fs frameshift AHI1 5 81044 6.16949E-5 40522 0 5.92345E-4
6-135726097-C-G p.Ala994Pro missense AHI1 1 81058 1.23368E-5 40529 0 NA
6-135726105-C-T p.Arg991His missense AHI1 127 81016 0.00156759 40508 1 0.00347178
6-135726106-G-A p.Arg991Cys missense AHI1 3 81028 3.70242E-5 40514 0 8.48968E-6
6-135726118-A-G c.2962-3T>C splice_region AHI1 4 80878 4.94572E-5 40439 0 1.28185E-4
6-135732479-A-AGTC c.2961+6_2961+7insGAC splice_region AHI1 878 81758 0.010739 40879 8 0.011613
6-135732496-T-A p.Glu984Val missense AHI1 1 82104 1.21797E-5 41052 0 2.01E-5
6-135732502-C-A p.Arg982Met missense AHI1 13 82132 1.58282E-4 41066 0 6.25E-4
6-135732507-T-G p.Lys980Asn missense AHI1 2 82176 2.4338E-5 41088 0 NA
6-135732521-T-C p.Met976Val missense AHI1 1 82252 1.21578E-5 41126 0 8.2927E-6
6-135732525-C-T p.Thr974Thr synonymous AHI1 2 82264 2.4312E-5 41132 0 3.1841E-5
6-135732526-G-T p.Thr974Lys missense AHI1 1 82270 1.21551E-5 41135 0 4.01655E-6
6-135732527-T-C p.Thr974Ala missense AHI1 4 82280 4.86145E-5 41140 0 1.32663E-4
6-135732531-A-C p.Ser972Ser synonymous AHI1 157 82276 0.00190821 41138 0 0.00417144
6-135732542-T-A p.Thr969Ser missense AHI1 1 82332 1.21459E-5 41166 0 NA
6-135732545-G-A p.His968Tyr missense AHI1 2 82340 2.42895E-5 41170 0 4.0161E-6
6-135732552-T-C p.Glu965Glu synonymous AHI1 1 82366 1.21409E-5 41183 0 1.65788E-5
6-135732556-T-C p.Asp964Gly missense AHI1 1 82348 1.21436E-5 41174 0 3.18471E-5
6-135732557-C-A p.Asp964Tyr missense AHI1 1 82360 1.21418E-5 41180 0 NA
6-135732557-C-T p.Asp964Asn missense AHI1 1 82360 1.21418E-5 41180 0 NA
6-135732568-G-A p.Ser960Phe missense AHI1 1 82394 1.21368E-5 41197 0 4.01548E-6
6-135732572-C-T p.Gly959Ser missense AHI1 1 82414 1.21339E-5 41207 0 6.37064E-5
6-135732574-T-C p.Gln958Arg missense AHI1 5 82422 6.06634E-5 41211 0 1.59276E-4
6-135732579-G-C p.Pro956Pro synonymous AHI1 1 82420 1.2133E-5 41210 0 NA
6-135732581-G-A p.Pro956Ser missense AHI1 1 82420 1.2133E-5 41210 0 NA
6-135732585-T-C p.Lys954Lys synonymous AHI1 1 82418 1.21333E-5 41209 0 NA
6-135732599-A-G p.Cys950Arg missense AHI1 1 82444 1.21294E-5 41222 0 NA
6-135732599-A-C p.Cys950Gly missense AHI1 1 82444 1.21294E-5 41222 0 1.20531E-5
6-135732603-G-C p.Ala948Ala synonymous AHI1 1 82422 1.21327E-5 41211 0 NA
6-135732616-T-C p.Gln944Arg missense AHI1 12 82418 1.45599E-4 41209 0 4.14145E-4
6-135732634-G-A p.Pro938Leu missense AHI1 1 82364 1.21412E-5 41182 0 3.18613E-5
6-135732635-G-A p.Pro938Ser missense AHI1 2 82362 2.4283E-5 41181 0 4.0657E-6
6-135732639-T-C p.Thr936Thr synonymous AHI1 16 82342 1.94312E-4 41171 0 1.42097E-4
6-135732647-T-C p.Asn934Asp missense AHI1 1 82296 1.21513E-5 41148 0 4.0993E-6
6-135732649-T-C p.Tyr933Cys missense AHI1 521 82244 0.00633481 41122 4 0.009375
6-135732652-C-T p.Arg932His missense AHI1 4 82132 4.87021E-5 41066 0 4.18312E-6
6-135732653-G-A p.Arg932Cys missense AHI1 2 82136 2.43499E-5 41068 0 0.00125
6-135732653-G-C p.Arg932Gly missense AHI1 1 82138 1.21746E-5 41069 0 NA
6-135732663-T-A p.Glu928Asp missense AHI1 5 81918 6.10366E-5 40959 0 0.001875
6-135732666-A-G p.Ala927Ala synonymous AHI1 1 81872 1.22142E-5 40936 0 1.71714E-5
6-135748294-GGTA-G c.2764+8_2764+10delTAC splice_region AHI1 2 80038 2.49881E-5 40019 0 3.19509E-5
6-135748307-T-C p.His921Arg missense+splice_region AHI1 3 80332 3.7345E-5 40166 0 1.93073E-5
6-135748308-G-A p.His921Tyr missense AHI1 2 80344 2.4893E-5 40172 0 6.39018E-5
6-135748326-G-A p.Leu915Leu synonymous AHI1 2 80630 2.48047E-5 40315 0 2.43934E-5
6-135748351-T-C p.Ala906Ala synonymous AHI1 1 80950 1.23533E-5 40475 0 9.02364E-6
6-135748353-C-T p.Ala906Thr missense AHI1 1 80942 1.23545E-5 40471 0 1.80339E-5
6-135748355-C-G p.Cys905Ser missense AHI1 38 80964 4.69344E-4 40482 0 0.00131049
6-135748355-C-T p.Cys905Tyr missense AHI1 1 80966 1.23509E-5 40483 0 9.01486E-6
6-135748367-A-G p.Met901Thr missense AHI1 1 81008 1.23445E-5 40504 0 5.03525E-4
6-135748378-T-C p.Pro897Pro synonymous AHI1 1 80998 1.2346E-5 40499 0 NA
6-135748392-T-C p.Ile893Val missense AHI1 1 80944 1.23542E-5 40472 0 9.09223E-6
6-135748395-C-T p.Asp892Asn missense AHI1 1 80928 1.23567E-5 40464 0 4.06412E-6
6-135748397-C-T p.Arg891Gln missense AHI1 11 80888 1.3599E-4 40444 0 6.25E-4
6-135748398-G-A p.Arg891* stop_gained AHI1 3 80906 3.70801E-5 40453 0 NA
6-135748409-T-C p.Lys887Arg missense AHI1 4 80816 4.94951E-5 40408 0 0.00151057
6-135748430-A-G p.Met880Thr missense AHI1 1 80522 1.2419E-5 40261 0 4.7912E-5
6-135748431-T-C p.Met880Val missense AHI1 2 80514 2.48404E-5 40257 0 9.63688E-6
6-135748435-T-C p.Val878Val synonymous AHI1 3 80422 3.73032E-5 40211 0 1.64012E-5
6-135748451-T-C c.2624-6A>G splice_region AHI1 1280 79948 0.0160104 39974 13 0.0213052
6-135749766-C-T c.2623+1G>A splice_donor AHI1 1 81872 1.22142E-5 40936 0 6.38488E-5
6-135749770-T-C p.Thr874Ala missense AHI1 3 81868 3.66444E-5 40934 0 NA
6-135749801-C-T p.Glu863Glu synonymous AHI1 17 82478 2.06116E-4 41239 0 0.00125
6-135749810-A-T p.Ala860Ala synonymous AHI1 1 82482 1.21239E-5 41241 0 3.19244E-5
6-135749820-A-G p.Phe857Ser missense AHI1 1 82458 1.21274E-5 41229 0 NA
6-135749823-G-A p.Thr856Ile missense AHI1 3 82440 3.63901E-5 41220 0 2.86942E-5
6-135749837-C-CA p.Leu851fs frameshift AHI1 1 82394 1.21368E-5 41197 0 NA
6-135749839-A-C p.Leu851Val missense AHI1 9 82374 1.09258E-4 41187 0 3.19387E-5
6-135749842-T-C p.Thr850Ala missense AHI1 8 82368 9.71251E-5 41184 0 6.25E-4
6-135749843-A-G p.Ser849Ser synonymous AHI1 2 82368 2.42813E-5 41184 0 1.6477E-5
6-135749847-T-C p.His848Arg missense AHI1 2 82354 2.42854E-5 41177 0 1.08814E-5
6-135749860-G-C p.Arg844Gly missense AHI1 3 82288 3.64573E-5 41144 0 3.19305E-5
6-135749860-G-A p.Arg844Trp missense AHI1 1 82288 1.21524E-5 41144 0 6.25E-4
6-135749876-T-C p.Val838Val synonymous AHI1 1 82146 1.21734E-5 41073 0 NA
6-135749885-C-T p.Arg835Arg synonymous AHI1 500 82064 0.00609281 41032 3 0.0100806
6-135749886-C-T p.Arg835Lys missense AHI1 7 82096 8.5266E-5 41048 0 2.12628E-5
6-135751017-T-C c.2492+3A>G splice_region AHI1 1 80228 1.24645E-5 40114 0 5.00811E-6
6-135751022-C-T p.Arg830Arg splice_region+synonymous AHI1 63 80448 7.83115E-4 40224 2 0.0015654
6-135751023-C-T p.Arg830Gln missense AHI1 6 80402 7.4625E-5 40201 0 0.0015121
6-135751024-G-A p.Arg830Trp missense AHI1 1904 80306 0.0237093 40153 34 0.0385201
6-135751031-C-T p.Met827Ile missense AHI1 2 80788 2.47562E-5 40394 0 NA
6-135751032-A-G p.Met827Thr missense AHI1 1 80818 1.23735E-5 40409 0 NA
6-135751079-A-C p.Asn811Lys missense AHI1 2 81076 2.46682E-5 40538 0 1.78884E-5
6-135751080-T-C p.Asn811Ser missense AHI1 3 81092 3.6995E-5 40546 0 6.38325E-5
6-135751091-C-A p.Glu807Asp missense AHI1 1 80954 1.23527E-5 40477 0 NA
6-135751094-C-T p.Leu806Leu synonymous AHI1 13 80936 1.60621E-4 40468 0 3.51191E-4
6-135751105-T-C p.Ile803Val missense AHI1 1 80946 1.23539E-5 40473 0 9.57426E-5
6-135751115-C-T p.Lys799Lys synonymous AHI1 2 80652 2.47979E-5 40326 0 2.0261E-5
6-135751130-T-C p.Lys794Lys synonymous AHI1 26 79822 3.25725E-4 39911 0 4.53894E-4
6-135751144-A-ATG c.2374-7_2374-6insCA splice_region AHI1 1 78514 1.27366E-5 39257 0 NA
6-135751146-G-A c.2374-8C>T splice_region AHI1 3 78210 3.83583E-5 39105 0 9.67929E-5
6-135752353-A-G p.Ile789Thr missense AHI1 1 81174 1.23192E-5 40587 0 6.26566E-4
6-135752364-G-A p.His785His synonymous AHI1 1 81452 1.22772E-5 40726 0 3.41799E-5
6-135752365-T-C p.His785Arg missense AHI1 1 81472 1.22742E-5 40736 0 NA
6-135752366-G-A p.His785Tyr missense AHI1 2 81476 2.45471E-5 40738 0 NA
6-135752368-A-G p.Val784Ala missense AHI1 1 81492 1.22711E-5 40746 0 NA
6-135752373-A-T p.His782Gln missense AHI1 1 81544 1.22633E-5 40772 0 NA
6-135752378-C-T p.Glu781Lys missense AHI1 3 81604 3.67629E-5 40802 0 NA
6-135752379-C-T p.Leu780Leu synonymous AHI1 4 81604 4.90172E-5 40802 0 1.32679E-5
6-135752384-C-T p.Asp779Asn missense AHI1 2 81600 2.45098E-5 40800 0 NA
6-135752389-A-T p.Ile777Asn missense AHI1 1 81620 1.22519E-5 40810 0 NA
6-135752400-G-A p.Thr773Thr synonymous AHI1 1 81602 1.22546E-5 40801 0 NA
6-135752411-C-T p.Val770Ile missense AHI1 1 81626 1.2251E-5 40813 0 NA
6-135752420-C-A p.Val767Leu missense AHI1 1 81630 1.22504E-5 40815 0 5.03525E-4
6-135752425-G-A p.Thr765Ile missense AHI1 9 81604 1.10289E-4 40802 0 1.52968E-4
6-135752436-T-C p.Ser761Ser synonymous AHI1 1 81482 1.22726E-5 40741 0 4.23711E-6
6-135752437-G-A p.Ser761Leu missense AHI1 1 81480 1.2273E-5 40740 0 0.00100705
6-135754176-A-G p.Phe752Ser missense AHI1 1 82164 1.21708E-5 41082 0 NA
6-135754181-A-C p.Leu750Leu synonymous AHI1 1 82190 1.21669E-5 41095 0 NA
6-135754183-G-GT p.Leu750fs frameshift AHI1 1 82178 1.21687E-5 41089 0 1.60677E-5
6-135754185-G-C p.Ser749* stop_gained AHI1 1 82192 1.21666E-5 41096 0 3.18471E-5
6-135754188-T-C p.Asn748Ser missense AHI1 1 82188 1.21672E-5 41094 0 8.28597E-6
6-135754192-T-C p.Ile747Val missense AHI1 2 82234 2.43208E-5 41117 0 1.65706E-5
6-135754200-T-C p.Lys744Arg missense AHI1 9 82256 1.09415E-4 41128 0 5.03525E-4
6-135754208-A-G p.Asp741Asp synonymous AHI1 1751 82184 0.0213058 41092 27 0.02875
6-135754209-T-C p.Asp741Gly missense AHI1 12 82240 1.45914E-4 41120 0 1.59226E-4
6-135754216-G-C p.Gln739Glu missense AHI1 1 82238 1.21598E-5 41119 0 NA
6-135754217-T-C p.Arg738Arg synonymous AHI1 1 82230 1.2161E-5 41115 0 NA
6-135754218-C-T p.Arg738Gln missense AHI1 2 82216 2.43262E-5 41108 0 3.21337E-5
6-135754219-G-A p.Arg738* stop_gained AHI1 4 82202 4.86606E-5 41101 0 0.00100705
6-135754228-T-C p.Ile735Val missense AHI1 9 82252 1.0942E-4 41126 0 6.36862E-5
6-135754246-T-C p.Met729Val missense AHI1 1 82206 1.21646E-5 41103 0 NA
6-135754247-C-G p.Glu728Asp missense AHI1 2 82214 2.43268E-5 41107 0 8.28349E-6
6-135754259-T-C p.Ile724Met missense AHI1 4 82192 4.86665E-5 41096 0 3.06515E-4
6-135754263-C-T p.Arg723Gln missense AHI1 6 82182 7.30087E-5 41091 0 6.37105E-5
6-135754279-A-G p.Tyr718His missense AHI1 1 82174 1.21693E-5 41087 0 NA
6-135754304-T-C p.Val709Val synonymous AHI1 1 82056 1.21868E-5 41028 0 NA
6-135754309-C-T p.Ala708Thr missense AHI1 1 82042 1.21889E-5 41021 0 4.14394E-5
6-135754310-T-C p.Pro707Pro synonymous AHI1 2 82040 2.43784E-5 41020 0 8.2883E-6
6-135754324-C-T p.Ala703Thr missense AHI1 1 81974 1.2199E-5 40987 0 NA
6-135754326-G-A p.Thr702Met missense AHI1 3 81948 3.66086E-5 40974 0 3.31702E-5
6-135754351-A-G p.Leu694Leu synonymous AHI1 1 81824 1.22214E-5 40912 0 8.33792E-6
6-135754357-T-C p.Arg692Gly missense AHI1 1 81806 1.2224E-5 40903 0 2.22958E-4
6-135754392-A-G p.Ile680Thr missense+splice_region AHI1 1 81192 1.23165E-5 40596 0 4.93496E-5
6-135754401-A-G c.2037-7T>C splice_region AHI1 2 80838 2.47408E-5 40419 0 7.44887E-5
6-135759537-G-A p.Thr671Ile missense AHI1 2 81204 2.46293E-5 40602 0 NA
6-135759542-G-A p.Ile669Ile synonymous AHI1 2 81468 2.45495E-5 40734 0 4.74879E-5
6-135759544-T-C p.Ile669Val missense AHI1 4 81502 4.90785E-5 40751 0 2.38345E-5
6-135759546-T-C p.Tyr668Cys missense AHI1 2 81548 2.45254E-5 40774 0 NA
6-135759552-T-A p.Asp666Val missense AHI1 4 81620 4.90076E-5 40810 0 3.18918E-5
6-135759555-T-C p.Asp665Gly missense AHI1 3 81662 3.67368E-5 40831 0 0.00125
6-135759565-AG-A p.Trp662fs frameshift AHI1 1 81756 1.22315E-5 40878 0 3.18878E-5
6-135759571-G-C p.Leu660Val missense AHI1 1 81780 1.22279E-5 40890 0 3.18837E-5
6-135759574-C-G p.Asp659His missense AHI1 3 81794 3.66775E-5 40897 0 1.13929E-5
6-135759574-C-A p.Asp659Tyr missense AHI1 1 81794 1.22258E-5 40897 0 NA
6-135759585-T-C p.Asn655Ser missense AHI1 2 81826 2.44421E-5 40913 0 NA
6-135759596-A-T p.Cys651* stop_gained AHI1 1 81822 1.22217E-5 40911 0 NA
6-135759617-T-C p.Gly644Gly synonymous AHI1 3 81624 3.67539E-5 40812 0 6.25E-4
6-135759620-A-G p.Ser643Ser synonymous AHI1 3 81670 3.67332E-5 40835 0 4.1792E-5
6-135759621-G-A p.Ser643Phe missense AHI1 1 81658 1.22462E-5 40829 0 1.25563E-5
6-135759625-G-A p.Pro642Ser missense AHI1 2 81438 2.45586E-5 40719 0 6.38146E-6
6-135759631-C-T p.Glu640Lys missense AHI1 1 81286 1.23022E-5 40643 0 NA
6-135759632-A-G p.Tyr639Tyr synonymous AHI1 3 81268 3.69149E-5 40634 0 4.43768E-5
6-135759634-A-G p.Tyr639His missense+splice_region AHI1 1 81144 1.23238E-5 40572 0 NA
6-135763721-A-C p.Ile637Met missense+splice_region AHI1 4 82208 4.86571E-5 41104 0 1.26393E-5
6-135763728-G-A p.Pro635Leu missense AHI1 3 82244 3.64768E-5 41122 0 1.22468E-5
6-135763729-G-T p.Pro635Thr missense AHI1 1 82244 1.21589E-5 41122 0 NA
6-135763739-C-T p.Arg631Arg synonymous AHI1 8 82294 9.72124E-5 41147 0 2.23001E-4
6-135763741-G-A p.Arg631Trp missense AHI1 1 82294 1.21516E-5 41147 0 1.38262E-4
6-135763763-T-C p.Ile623Met missense AHI1 2 82360 2.42836E-5 41180 0 NA
6-135763773-T-C p.Asn620Ser missense AHI1 1 82380 1.21389E-5 41190 0 4.52612E-5
6-135763776-T-C p.His619Arg missense AHI1 1 82376 1.21395E-5 41188 0 6.36943E-5
6-135763789-G-T p.Leu615Ile missense AHI1 1 82370 1.21403E-5 41185 0 2.03533E-5
6-135763800-C-T p.Gly611Glu missense AHI1 1 82368 1.21406E-5 41184 0 NA
6-135763803-C-T p.Arg610Gln missense AHI1 9 82358 1.09279E-4 41179 1 0.00100806
6-135763803-C-G p.Arg610Pro missense AHI1 1 82358 1.21421E-5 41179 0 6.25E-4
6-135763814-A-G c.1780-5T>C splice_region AHI1 2 82358 2.42842E-5 41179 0 3.18512E-5
6-135763821-G-A p.Ser604Leu missense AHI1 1 82354 1.21427E-5 41177 0 9.50625E-6
6-135763826-G-A p.Leu602Leu synonymous AHI1 1 82322 1.21474E-5 41161 0 4.07292E-6
6-135763841-G-A p.Ile597Ile synonymous AHI1 149 82240 0.00181177 41120 0 0.00756048
6-135763844-A-G p.Arg596Arg synonymous AHI1 6 82182 7.30087E-5 41091 0 9.55353E-5
6-135763846-G-A p.Arg596Cys missense AHI1 1 82128 1.21761E-5 41064 0 1.85929E-5
6-135763853-C-A c.1780-1G>T splice_acceptor AHI1 1 81968 1.21999E-5 40984 0 NA
6-135763855-A-G c.1780-3T>C splice_region AHI1 2 81930 2.44111E-5 40965 0 NA
6-135763860-A-G c.1780-8T>C splice_region AHI1 1 81634 1.22498E-5 40817 0 NA
6-135768145-C-T c.1779+1G>A splice_donor AHI1 1 82120 1.21773E-5 41060 0 8.32709E-6
6-135768160-G-A p.Arg589* stop_gained AHI1 2 82300 2.43013E-5 41150 0 0.00151057
6-135768187-C-T p.Glu580Lys missense AHI1 2 82372 2.42801E-5 41186 0 NA
6-135768199-G-T p.Pro576Thr missense AHI1 2 82386 2.4276E-5 41193 0 8.28212E-6
6-135768200-T-C p.Glu575Glu synonymous AHI1 2 82396 2.4273E-5 41198 0 3.18552E-5
6-135768205-T-A p.Thr574Ser missense AHI1 1 82388 1.21377E-5 41194 0 NA
6-135768206-G-A p.Asp573Asp synonymous AHI1 2 82372 2.42801E-5 41186 0 1.60705E-5
6-135768231-C-T p.Arg565His missense AHI1 8 82312 9.71912E-5 41156 0 1.27445E-4
6-135768232-G-A p.Arg565Cys missense AHI1 3 82330 3.64387E-5 41165 0 2.4848E-5
6-135768238-A-G p.Cys563Arg missense AHI1 1 82344 1.21442E-5 41172 0 6.25E-4
6-135768239-A-G p.His562His synonymous AHI1 6 82340 7.28686E-5 41170 0 1.32529E-4
6-135768242-C-T p.Val561Val synonymous AHI1 2 82316 2.42966E-5 41158 0 8.28349E-6
6-135768245-T-C p.Pro560Pro synonymous AHI1 6 82300 7.2904E-5 41150 0 2.73373E-4
6-135768246-G-A p.Pro560Leu missense AHI1 1 82288 1.21524E-5 41144 0 4.04047E-6
6-135768265-G-A p.Gln554* stop_gained AHI1 1 81846 1.22181E-5 40923 0 NA
6-135768266-A-C p.Leu553Leu synonymous AHI1 1 81834 1.22199E-5 40917 0 NA
6-135768279-G-C p.Ser549Cys missense AHI1 1 81458 1.22763E-5 40729 0 3.18573E-5
6-135768282-C-T p.Arg548His missense AHI1 955 80834 0.0118143 40417 9 0.0128744
6-135769427-C-T c.1626+1G>A splice_donor AHI1 2 80912 2.47182E-5 40456 0 1.2235E-5
6-135769438-A-T p.Val539Asp missense AHI1 1 81470 1.22745E-5 40735 0 NA
6-135769447-C-T p.Gly536Glu missense AHI1 1 81494 1.22708E-5 40747 0 8.06465E-6
6-135769450-C-G p.Arg535Thr missense AHI1 1 81662 1.22456E-5 40831 0 NA
6-135769460-C-T p.Val532Ile missense AHI1 8 82056 9.74944E-5 41028 0 9.55718E-5
6-135769461-G-A p.Tyr531Tyr synonymous AHI1 12 82172 1.46035E-4 41086 0 5.03525E-4
6-135769488-T-C p.Pro522Pro synonymous AHI1 3 82392 3.64113E-5 41196 0 3.18471E-5
6-135769492-C-A p.Cys521Phe missense AHI1 1 82390 1.21374E-5 41195 0 NA
6-135769496-T-C p.Lys520Glu missense AHI1 1 82400 1.21359E-5 41200 0 6.42266E-5
6-135769503-C-G p.Trp517Cys missense AHI1 1 82388 1.21377E-5 41194 0 NA
6-135769520-C-T p.Val512Ile missense AHI1 2 82388 2.42754E-5 41194 0 NA
6-135769521-A-C p.Val511Val synonymous AHI1 23 82404 2.79113E-4 41202 0 6.04826E-4
6-135769523-C-T p.Val511Ile missense AHI1 4 82394 4.85472E-5 41197 0 1.60594E-5
6-135769530-T-A p.Pro508Pro synonymous AHI1 1 82382 1.21386E-5 41191 0 2.0075E-5
6-135769541-G-C p.Pro505Ala missense AHI1 1 82232 1.21607E-5 41116 0 4.01923E-6
6-135769552-G-A p.Pro501Leu missense AHI1 1 81984 1.21975E-5 40992 0 NA
6-135769553-G-C p.Pro501Ala missense AHI1 1 81966 1.22002E-5 40983 0 NA
6-135769559-A-G p.Tyr499His missense AHI1 3 81694 3.67224E-5 40847 0 NA
6-135769560-T-C p.Leu498Leu synonymous AHI1 2 81674 2.44876E-5 40837 0 1.59226E-4
6-135769566-C-T p.Leu496Leu synonymous AHI1 2 81338 2.45888E-5 40669 0 8.32348E-6
6-135769571-G-A p.Arg495Cys missense AHI1 1 81238 1.23095E-5 40619 0 3.18451E-5
6-135769583-T-G p.Asn491His missense AHI1 1 80394 1.24387E-5 40197 0 NA
6-135769586-T-C p.Ile490Val missense AHI1 2 80388 2.48793E-5 40194 0 NA
6-135769593-A-C p.Asn487Lys missense AHI1 1 80146 1.24772E-5 40073 0 NA
6-135769595-T-C p.Asn487Asp missense AHI1 1 80070 1.24891E-5 40035 0 NA
6-135769596-T-C p.Gly486Gly synonymous AHI1 1 80014 1.24978E-5 40007 0 NA
6-135769600-T-C p.Asn485Ser missense AHI1 4 79558 5.02778E-5 39779 0 6.37024E-5
6-135774478-C-A c.1440+1G>T splice_donor AHI1 1 81978 1.21984E-5 40989 0 NA
6-135774500-T-C p.Lys473Lys synonymous AHI1 2 82078 2.43671E-5 41039 0 NA
6-135774501-T-C p.Lys473Arg missense AHI1 1 82082 1.21829E-5 41041 0 NA
6-135774504-C-T p.Arg472Gln missense AHI1 5 82050 6.09385E-5 41025 0 9.56084E-5
6-135774505-G-T p.Arg472Arg synonymous AHI1 3 82076 3.65515E-5 41038 0 0.00101215
6-135774514-A-G p.Cys469Arg missense AHI1 3 82130 3.65275E-5 41065 0 2.43467E-4
6-135774515-T-C p.Glu468Glu synonymous AHI1 97 82114 0.00118128 41057 0 0.00168822
6-135774521-G-A p.Asn466Asn synonymous AHI1 5 82088 6.09102E-5 41044 0 5.72488E-6
6-135774524-T-G p.Gln465His missense AHI1 1 82104 1.21797E-5 41052 0 NA
6-135774534-G-T p.Ser462Tyr missense AHI1 3 82102 3.65399E-5 41051 0 NA
6-135774556-C-T p.Val455Met missense AHI1 3 81964 3.66014E-5 40982 0 3.18573E-5
6-135774557-G-A p.Ser454Ser synonymous AHI1 1 81970 1.21996E-5 40985 0 3.18552E-5
6-135774563-G-T p.Phe452Leu missense AHI1 1 81956 1.22017E-5 40978 0 0.00102249
6-135776864-A-G c.1344+8T>C splice_region AHI1 1 80794 1.23772E-5 40397 0 NA
6-135776878-GA-AT p.Phe446Tyr missense AHI1 1 81460 1.2276E-5 40730 0 NA
6-135776884-G-C p.Ile444Met missense AHI1 1 81472 1.22742E-5 40736 0 NA
6-135776899-C-T p.Glu439Glu synonymous AHI1 2 81910 2.4417E-5 40955 0 NA
6-135776900-T-C p.Glu439Gly missense AHI1 1 81922 1.22067E-5 40961 0 NA
6-135776910-C-T p.Gly436Ser missense AHI1 4 82008 4.87757E-5 41004 0 1.55982E-5
6-135776912-C-T p.Arg435Gln missense AHI1 7 81998 8.53679E-5 40999 0 8.12119E-4
6-135776913-G-T p.Arg435Arg synonymous AHI1 5 82008 6.09697E-5 41004 0 9.56755E-5
6-135776915-A-G p.Leu434Pro missense AHI1 2 82044 2.43772E-5 41022 0 0.00151515
6-135776921-T-C p.Tyr432Cys missense AHI1 1 82086 1.21823E-5 41043 0 NA
6-135776946-T-C p.Ile424Val missense AHI1 5 82068 6.09251E-5 41034 0 0.00125
6-135776949-G-A p.Gln423* stop_gained AHI1 7 82036 8.53284E-5 41018 0 1.27575E-4
6-135776975-T-C p.Lys414Arg missense AHI1 1 81880 1.2213E-5 40940 0 NA
6-135776996-G-A p.Pro407Leu missense AHI1 1 81860 1.2216E-5 40930 0 NA
6-135777001-G-C p.Thr405Thr synonymous AHI1 5 81736 6.11726E-5 40868 0 NA
6-135777002-G-T p.Thr405Asn missense AHI1 1 81712 1.22381E-5 40856 0 NA
6-135777005-A-G p.Met404Thr missense AHI1 1 81678 1.22432E-5 40839 0 NA
6-135777009-T-C p.Ile403Val missense AHI1 3 81660 3.67377E-5 40830 0 4.34477E-6
6-135777027-C-T p.Val397Met missense AHI1 2 80778 2.47592E-5 40389 0 4.64227E-6
6-135777033-C-CT p.Glu395fs frameshift AHI1 1 80622 1.24036E-5 40311 0 NA
6-135777041-T-C p.Tyr392Cys missense AHI1 3 79666 3.76572E-5 39833 0 3.75813E-5
6-135777043-G-A p.Tyr391Tyr synonymous AHI1 5 79570 6.28378E-5 39785 0 9.54016E-5
6-135777049-T-C p.Ser389Ser synonymous AHI1 1 79538 1.25726E-5 39769 0 5.27348E-6
6-135777050-G-C p.Ser389* stop_gained AHI1 3 79318 3.78224E-5 39659 0 2.0298E-5
6-135777059-C-T p.Arg386Gln missense AHI1 8 78322 1.02142E-4 39161 0 2.55477E-4
6-135777060-G-A p.Arg386Trp missense AHI1 4 78324 5.10699E-5 39162 0 9.04609E-5
6-135777070-C-CAA c.1152-7_1152-6insTT splice_region AHI1 1 77356 1.29272E-5 38678 0 NA
6-135777070-CA-C c.1152-7delT splice_region AHI1 1 77356 1.29272E-5 38678 0 NA
6-135778625-A-G c.1151+7T>C splice_region AHI1 2 82336 2.42907E-5 41168 0 1.39993E-5
6-135778629-T-C c.1151+3A>G splice_region AHI1 1 82362 1.21415E-5 41181 0 NA
6-135778634-A-G p.Asp383Asp splice_region+synonymous AHI1 5 82406 6.06752E-5 41203 0 6.36983E-5
6-135778652-T-C p.Gln377Gln synonymous AHI1 7 82538 8.48094E-5 41269 0 9.20471E-5
6-135778662-T-A p.His374Leu missense AHI1 1 82562 1.21121E-5 41281 0 8.74585E-6
6-135778677-T-C p.His369Arg missense AHI1 1 82578 1.21098E-5 41289 0 3.18471E-5
6-135778692-G-A p.Pro364Leu missense AHI1 1 82622 1.21033E-5 41311 0 NA
6-135778698-G-T p.Ser362Tyr missense AHI1 2 82636 2.42025E-5 41318 0 3.18431E-5
6-135778707-A-C p.Phe359Cys missense AHI1 3 82646 3.62994E-5 41323 0 NA
6-135778711-C-A p.Asp358Tyr missense AHI1 1 82650 1.20992E-5 41325 0 NA
6-135778731-C-T p.Arg351Gln missense AHI1 2 82652 2.41978E-5 41326 0 4.01365E-5
6-135778738-T-C p.Ile349Val missense AHI1 2 82660 2.41955E-5 41330 0 7.62525E-5
6-135778750-A-T p.Leu345Met missense AHI1 18 82670 2.17733E-4 41335 0 1.68543E-4
6-135778770-A-C p.Leu338Trp missense AHI1 10 82662 1.20975E-4 41331 0 4.77525E-4
6-135778787-C-T p.Pro332Pro synonymous AHI1 4 82644 4.84004E-5 41322 0 2.48435E-5
6-135778788-G-C p.Pro332Arg missense AHI1 2 82634 2.42031E-5 41317 0 8.28102E-6
6-135778788-G-A p.Pro332Leu missense AHI1 1 82634 1.21016E-5 41317 0 3.18695E-5
6-135778791-C-T p.Ser331Asn missense AHI1 5 82634 6.05078E-5 41317 0 5.03525E-4
6-135778793-A-G p.Asp330Asp synonymous AHI1 12 82636 1.45215E-4 41318 0 5.73248E-4
6-135778794-T-C p.Asp330Gly missense AHI1 69 82632 8.35028E-4 41316 0 8.70773E-4
6-135778794-T-A p.Asp330Val missense AHI1 2 82632 2.42037E-5 41316 0 NA
6-135778797-C-A p.Arg329Leu missense AHI1 38 82608 4.60004E-4 41304 0 0.00100705
6-135778800-C-A p.Ser328Ile missense AHI1 3 82604 3.63179E-5 41302 0 1.08347E-4
6-135778824-CCATCAA-C p.Val318_Asp319del disruptive_inframe_deletion AHI1 1 82524 1.21177E-5 41262 0 8.28116E-6
6-135778826-A-G p.Asp319Asp synonymous AHI1 4 82516 4.84754E-5 41258 0 NA
6-135778850-AACT-A p.Ala312fs frameshift AHI1 4 82346 4.85755E-5 41173 0 5.03525E-4
6-135778857-C-T c.932-6G>A splice_region AHI1 1 82258 1.21569E-5 41129 0 6.25E-4
6-135778858-G-T c.932-7C>A splice_region AHI1 1 82206 1.21646E-5 41103 0 NA
6-135778858-G-A c.932-7C>T splice_region AHI1 1 82206 1.21646E-5 41103 0 1.6584E-5
6-135784257-G-A c.931+6C>T splice_region AHI1 1 80660 1.23977E-5 40330 0 NA
6-135784283-G-GT p.Thr304fs frameshift AHI1 1 81404 1.22844E-5 40702 0 0.0015121
6-135784306-A-G p.Asp296Asp synonymous AHI1 2 81830 2.44409E-5 40915 0 NA
6-135784307-T-A p.Asp296Val missense AHI1 1 81856 1.22166E-5 40928 0 NA
6-135784310-T-A p.Asp295Val missense AHI1 1 81936 1.22046E-5 40968 0 3.20184E-5
6-135784313-T-C p.Gln294Arg missense AHI1 6 81966 7.32011E-5 40983 0 0.00705645
6-135784315-C-T p.Met293Ile missense AHI1 1 81958 1.22014E-5 40979 0 0.00504032
6-135784326-C-T p.Glu290Lys missense AHI1 1 82046 1.21883E-5 41023 0 3.21048E-5
6-135784338-C-G p.Glu286Gln missense AHI1 2 82032 2.43807E-5 41016 0 NA
6-135784341-T-C p.Met285Val missense AHI1 4 82042 4.87555E-5 41021 0 1.28016E-4
6-135784342-T-C p.Ser284Ser synonymous AHI1 7 82038 8.53263E-5 41019 0 3.20082E-5
6-135784346-C-T p.Ser283Asn missense AHI1 2 82040 2.43784E-5 41020 0 8.29339E-6
6-135784353-C-T p.Glu281Lys missense AHI1 1 82050 1.21877E-5 41025 0 NA
6-135784365-G-A p.His277Tyr missense AHI1 2 81982 2.43956E-5 40991 0 NA
6-135784367-G-C p.Ser276Cys missense AHI1 30 82000 3.65854E-4 41000 0 1.82427E-4
6-135784370-T-C p.Asp275Gly missense AHI1 3 82004 3.65836E-5 41002 0 1.20954E-5
6-135784390-T-G p.Ser268Ser synonymous AHI1 392 81892 0.00478679 40946 1 0.00941529
6-135784402-C-A p.Lys264Asn missense AHI1 2 81792 2.44523E-5 40896 0 NA
6-135784417-AACT-A p.Val259del disruptive_inframe_deletion AHI1 2 81616 2.4505E-5 40808 0 NA
6-135784430-G-C p.Ser255Cys missense AHI1 1 81428 1.22808E-5 40714 0 NA
6-135786963-T-C p.Lys246Lys synonymous AHI1 3 78816 3.80633E-5 39408 0 NA
6-135786972-G-A p.Val243Val synonymous AHI1 12 79358 1.51213E-4 39679 0 5.03525E-4
6-135786977-G-A p.Pro242Ser missense AHI1 139 79608 0.00174606 39804 0 0.00654582
6-135786989-T-C p.Lys238Glu missense AHI1 8 80318 9.96041E-5 40159 0 2.62208E-4
6-135786993-T-C p.Lys236Lys synonymous AHI1 10 80320 1.24502E-4 40160 0 3.18552E-5
6-135786997-C-CT p.Arg235fs frameshift AHI1 1 80414 1.24356E-5 40207 0 3.21378E-5
6-135787008-G-C p.Ser231Arg missense AHI1 1 81562 1.22606E-5 40781 0 3.2041E-5
6-135787020-A-T p.Asp227Glu missense AHI1 1 81860 1.2216E-5 40930 0 NA
6-135787032-A-G p.Thr223Thr synonymous AHI1 1 82240 1.21595E-5 41120 0 2.68298E-5
6-135787035-ATC-A p.Asp222fs frameshift AHI1 1 82478 1.21244E-5 41239 0 NA
6-135787048-T-C p.Tyr218Cys missense AHI1 11 82558 1.3324E-4 41279 0 5.58835E-4
6-135787056-C-T p.Gln215Gln synonymous AHI1 2 82600 2.42131E-5 41300 0 NA
6-135787092-C-T p.Glu203Glu synonymous AHI1 1 82716 1.20896E-5 41358 0 6.37024E-5
6-135787095-C-T p.Lys202Lys synonymous AHI1 1 82732 1.20872E-5 41366 0 NA
6-135787119-G-C p.Cys194Trp missense AHI1 1 82750 1.20846E-5 41375 0 8.29009E-6
6-135787128-T-G p.Ala191Ala synonymous AHI1 22 82766 2.6581E-4 41383 1 0.00100705
6-135787138-A-C p.Leu188Trp missense AHI1 1 82764 1.20825E-5 41382 0 NA
6-135787151-C-T p.Glu184Lys missense AHI1 1 82782 1.20799E-5 41391 0 NA
6-135787166-CTT-C p.Glu178fs frameshift AHI1 1 82788 1.2079E-5 41394 0 9.55779E-5
6-135787169-C-T p.Glu178Lys missense AHI1 7 82786 8.45554E-5 41393 0 3.18613E-5
6-135787181-T-G p.Asn174His missense AHI1 2 82780 2.41604E-5 41390 0 NA
6-135787184-C-T p.Ala173Thr missense AHI1 285 82784 0.00344269 41392 0 0.0110775
6-135787192-C-A p.Ser170Ile missense AHI1 1 82784 1.20796E-5 41392 0 NA
6-135787202-G-T p.His167Asn missense AHI1 8 82776 9.66464E-5 41388 0 NA
6-135787207-A-G p.Val165Ala missense AHI1 5 82786 6.03967E-5 41393 0 8.28542E-6
6-135787209-G-A p.Gly164Gly synonymous AHI1 1 82784 1.20796E-5 41392 0 3.18613E-5
6-135787210-C-T p.Gly164Asp missense AHI1 1 82786 1.20793E-5 41393 0 NA
6-135787216-T-G p.Gln162Pro missense AHI1 2 82790 2.41575E-5 41395 0 1.20428E-5
6-135787217-G-A p.Gln162* stop_gained AHI1 1 82792 1.20785E-5 41396 0 1.20423E-5
6-135787221-C-T p.Lys160Lys synonymous AHI1 1 82790 1.20788E-5 41395 0 NA
6-135787223-T-A p.Lys160* stop_gained AHI1 3 82790 3.62363E-5 41395 0 4.01349E-6
6-135787242-T-G p.Thr153Thr synonymous AHI1 2 82806 2.41528E-5 41403 0 8.28487E-5
6-135787245-A-G p.Ser152Ser synonymous AHI1 1 82804 1.20767E-5 41402 0 NA
6-135787245-A-C p.Ser152Ser synonymous AHI1 1 82804 1.20767E-5 41402 0 NA
6-135787272-C-T p.Pro143Pro synonymous AHI1 2 82802 2.4154E-5 41401 0 3.21156E-5
6-135787273-G-A p.Pro143Leu missense AHI1 3 82804 3.62301E-5 41402 0 3.18552E-5
6-135787273-G-C p.Pro143Arg missense AHI1 4 82804 4.83068E-5 41402 0 3.05059E-4
6-135787285-T-C p.Gln139Arg missense AHI1 1 82796 1.20779E-5 41398 0 NA
6-135787286-G-C p.Gln139Glu missense AHI1 1 82796 1.20779E-5 41398 0 NA
6-135787289-T-C p.Thr138Ala missense AHI1 2 82794 2.41563E-5 41397 0 NA
6-135787289-T-A p.Thr138Ser missense AHI1 1 82794 1.20782E-5 41397 0 8.28363E-6
6-135787290-A-C p.Thr137Thr synonymous AHI1 1 82796 1.20779E-5 41398 0 1.65686E-5
6-135787299-G-T p.Pro134Pro synonymous AHI1 1 82796 1.20779E-5 41398 0 NA
6-135787301-G-A p.Pro134Ser missense AHI1 21 82798 2.53629E-4 41399 0 1.27437E-4
6-135787305-C-T p.Thr132Thr synonymous AHI1 3 82794 3.62345E-5 41397 0 2.00681E-5
6-135787306-G-A p.Thr132Met missense AHI1 1 82790 1.20788E-5 41395 0 1.2747E-4
6-135787331-T-G p.Lys124Gln missense AHI1 2 82770 2.41633E-5 41385 0 NA
6-135787339-T-C p.Lys121Arg missense AHI1 1 82772 1.20814E-5 41386 0 1.20435E-5
6-135787347-C-T p.Glu118Glu synonymous AHI1 1 82762 1.20828E-5 41381 0 NA
6-135787363-C-T p.Gly113Asp missense AHI1 1 82748 1.20849E-5 41374 0 NA
6-135787389-T-C p.Thr104Thr synonymous AHI1 2 82736 2.41733E-5 41368 0 6.36983E-5
6-135787402-T-C p.Lys100Arg missense AHI1 1 82718 1.20893E-5 41359 0 3.18573E-5
6-135787420-G-A p.Thr94Met missense AHI1 2 82696 2.4185E-5 41348 0 5.21808E-5
6-135787422-G-A p.Ser93Ser synonymous AHI1 1 82700 1.20919E-5 41350 0 3.18634E-5
6-135787428-C-T p.Lys91Lys synonymous AHI1 1 82696 1.20925E-5 41348 0 NA
6-135787442-T-A p.Thr87Ser missense AHI1 2 82690 2.41867E-5 41345 0 NA
6-135787450-G-A p.Ala84Val missense AHI1 2 82666 2.41937E-5 41333 0 3.18634E-5
6-135787459-T-C p.Asp81Gly missense AHI1 7 82670 8.4674E-5 41335 0 3.1841E-5
6-135787462-T-C p.Asp80Gly missense AHI1 1 82670 1.20963E-5 41335 0 NA
6-135787469-T-C p.Thr78Ala missense AHI1 19 82660 2.29857E-4 41330 0 9.55718E-5
6-135787480-A-T p.Ile74Asn missense AHI1 10 82644 1.21001E-4 41322 0 1.91107E-4
6-135787485-G-A p.Pro72Pro synonymous AHI1 1 82624 1.2103E-5 41312 0 NA
6-135787487-G-T p.Pro72Thr missense AHI1 1 82626 1.21027E-5 41313 0 8.03097E-6
6-135787502-T-C p.Ile67Val missense AHI1 5 82574 6.05517E-5 41287 0 1.91058E-4
6-135787507-T-G p.Asp65Ala missense AHI1 5 82536 6.05796E-5 41268 0 6.37064E-5
6-135787508-C-T p.Asp65Asn missense AHI1 2 82514 2.42383E-5 41257 0 1.61079E-5
6-135787509-G-A p.Pro64Pro splice_region+synonymous AHI1 1 82522 1.2118E-5 41261 0 3.22386E-5
6-135787510-G-T p.Pro64His missense+splice_region AHI1 1 82512 1.21194E-5 41256 0 3.18715E-5
6-135787516-G-A c.190-5C>T splice_region AHI1 1 82434 1.21309E-5 41217 0 NA
6-135788712-T-C c.189+7A>G splice_region AHI1 1 81162 1.2321E-5 40581 0 NA
6-135788727-T-C p.Ser61Gly missense AHI1 2 81312 2.45966E-5 40656 0 NA
6-135788730-T-C p.Thr60Ala missense AHI1 89 81328 0.00109433 40664 0 0.00226143
6-135788741-A-G p.Met56Thr missense AHI1 1 81370 1.22895E-5 40685 0 4.03268E-6
6-135788744-T-C p.Tyr55Cys missense AHI1 1 81374 1.22889E-5 40687 0 NA
6-135788744-T-G p.Tyr55Ser missense AHI1 1 81374 1.22889E-5 40687 0 4.03545E-6
6-135788745-A-G p.Tyr55His missense AHI1 1 81396 1.22856E-5 40698 0 4.04008E-6
6-135788750-A-C p.Leu53Arg missense AHI1 1 81382 1.22877E-5 40691 0 8.39335E-6
6-135788780-G-A c.136-8C>T splice_region AHI1 8 80964 9.88093E-5 40482 0 2.54956E-4
6-135788780-G-C c.136-8C>G splice_region AHI1 1 80964 1.23512E-5 40482 0 8.30489E-6
6-135811056-A-T c.*278T>A splice_region AHI1 1 29508 3.38891E-5 14754 0 NA
6-135811340-T-C p.Val53Val synonymous AHI1 1 53326 1.87526E-5 26663 0 NA
6-135811343-G-A p.Ala52Ala synonymous AHI1 1 53312 1.87575E-5 26656 0 6.36983E-5
6-135811344-G-A p.Ala52Val missense AHI1 1 53318 1.87554E-5 26659 0 3.18532E-5
6-135811349-T-A p.Ser50Ser synonymous AHI1 1 53302 1.8761E-5 26651 0 NA
6-135811361-G-T p.Asn46Lys missense+splice_region AHI1 1 53252 1.87786E-5 26626 0 NA
6-135811368-T-C c.136-5A>G splice_region AHI1 37 53238 6.94992E-4 26619 0 8.91493E-4
6-135811787-GT-G p.Lys36fs frameshift AHI1 2 82470 2.42512E-5 41235 0 NA
6-135811789-T-G p.Lys36Thr missense AHI1 1 82484 1.21236E-5 41242 0 NA
6-135811794-C-T p.Lys34Lys synonymous AHI1 1 82504 1.21206E-5 41252 0 4.01494E-6
6-135811794-CT-C p.Lys34fs frameshift AHI1 1 82504 1.21206E-5 41252 0 3.19244E-5
6-135811810-TCACGCATTAGATCA-T p.Ser24fs frameshift AHI1 3 82556 3.6339E-5 41278 0 3.31334E-5
6-135811813-C-T p.Arg28His missense AHI1 16 82560 1.93798E-4 41280 0 6.62712E-5
6-135811814-G-A p.Arg28Cys missense AHI1 40 82560 4.84496E-4 41280 0 0.0020141
6-135811816-A-G p.Met27Thr missense AHI1 1 82572 1.21106E-5 41286 0 NA
6-135811822-T-C p.Asp25Gly missense AHI1 3 82574 3.63311E-5 41287 0 4.41685E-5
6-135811823-C-T p.Asp25Asn missense AHI1 10 82576 1.21101E-4 41288 0 1.15963E-4
6-135811824-A-G p.Ser24Ser synonymous AHI1 55 82574 6.66069E-4 41287 0 0.00146562
6-135811827-G-A p.His23His synonymous AHI1 1 82576 1.21101E-5 41288 0 NA
6-135811828-T-A p.His23Leu missense AHI1 2 82574 2.42207E-5 41287 0 2.48484E-5
6-135811843-T-C p.Glu18Gly missense AHI1 2 82564 2.42236E-5 41282 0 1.20717E-5
6-135811852-C-T p.Arg15His missense AHI1 4 82552 4.84543E-5 41276 0 6.37471E-5
6-135811853-G-A p.Arg15Cys missense AHI1 1 82558 1.21127E-5 41279 0 4.03249E-6
6-135811860-G-C p.Thr12Thr synonymous AHI1 1 82560 1.21124E-5 41280 0 NA
6-135813367-T-C p.Thr3Thr splice_region+synonymous AHI1 8 81136 9.85999E-5 40568 0 2.92344E-4
6-135813401-G-C c.-26C>G 5_prime_UTR_premature_start_codon_gain AHI1 1 81356 1.22917E-5 40678 0 NA
6-135813428-T-C c.-53A>G splice_region AHI1 1 80920 1.23579E-5 40460 0 NA
6-135813434-C-T c.-54-5G>A splice_region AHI1 4 80056 4.9965E-5 40028 0 3.18796E-5
6-135813435-G-A c.-60C>T 5_prime_UTR_premature_start_codon_gain AHI1 3 80138 3.74354E-5 40069 0 NA
6-135813499-C-A c.-124G>T 5_prime_UTR_premature_start_codon_gain AHI1 2 77410 2.58365E-5 38705 0 NA
6-135813499-C-G c.-124G>C 5_prime_UTR_premature_start_codon_gain AHI1 3 77410 3.87547E-5 38705 0 NA
6-135818325-C-A c.-140+1G>T splice_donor AHI1 2 2938 6.80735E-4 1469 0 0.00257929