Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-169779895-AT-GC c.*2600_*2601delATinsGC splice_region ABCB11 14 28016 4.99714E-4 14008 0 NA
2-169779895-A-G c.*2601T>C splice_region ABCB11 31 28012 0.00110667 14006 0 0.00184749
2-169780136-C-T p.Ser1321Asn missense ABCB11 5 82582 6.05459E-5 41291 0 1.57608E-4
2-169780141-G-C p.Pro1319Pro synonymous ABCB11 1 82576 1.21101E-5 41288 0 8.29174E-6
2-169780143-G-C p.Pro1319Ala missense ABCB11 1 82568 1.21112E-5 41284 0 1.20381E-5
2-169780144-G-A p.Ser1318Ser synonymous ABCB11 1 82556 1.2113E-5 41278 0 4.01236E-6
2-169780158-C-A p.Val1314Phe missense ABCB11 1 82490 1.21227E-5 41245 0 NA
2-169780161-G-A p.Leu1313Leu synonymous ABCB11 1 82462 1.21268E-5 41231 0 1.20383E-5
2-169780166-T-C p.Tyr1311Cys missense ABCB11 1 82418 1.21333E-5 41209 0 8.28583E-6
2-169780174-TC-T p.Gly1308fs frameshift ABCB11 2 82342 2.42889E-5 41171 0 NA
2-169780175-C-T p.Gly1308Glu missense ABCB11 1 82322 1.21474E-5 41161 0 NA
2-169780176-C-A p.Gly1308* stop_gained ABCB11 1 82342 1.21445E-5 41171 0 NA
2-169780183-G-T p.Ala1305Ala synonymous ABCB11 2 82130 2.43516E-5 41065 0 8.03193E-6
2-169780191-G-A p.Leu1303Leu synonymous ABCB11 1 82090 1.21818E-5 41045 0 NA
2-169780192-T-C p.Glu1302Glu synonymous ABCB11 3 82082 3.65488E-5 41041 0 1.20587E-5
2-169780196-T-G p.Glu1301Ala missense ABCB11 1 82064 1.21856E-5 41032 0 2.41264E-5
2-169780204-C-T p.Gly1298Gly synonymous ABCB11 3 81980 3.65943E-5 40990 0 6.38081E-5
2-169780216-C-T p.Val1294Val synonymous ABCB11 1 81960 1.22011E-5 40980 0 NA
2-169780236-C-G p.Val1288Leu missense ABCB11 1 82088 1.2182E-5 41044 0 NA
2-169780236-C-T p.Val1288Ile missense ABCB11 1 82088 1.2182E-5 41044 0 NA
2-169780249-C-T p.Ala1283Ala synonymous ABCB11 14 82068 1.7059E-4 41034 0 5.03525E-4
2-169780250-G-A p.Ala1283Val missense ABCB11 12 82050 1.46252E-4 41025 0 9.56877E-5
2-169780251-C-T p.Ala1283Thr missense ABCB11 1 82050 1.21877E-5 41025 0 3.18898E-5
2-169780252-G-A p.Asn1282Asn synonymous ABCB11 8 82068 9.74801E-5 41034 0 1.73904E-4
2-169780256-T-A p.Gln1281Leu missense ABCB11 1 82086 1.21823E-5 41043 0 8.28116E-6
2-169780271-C-T p.Arg1276His missense ABCB11 1 82136 1.21749E-5 41068 0 5.04032E-4
2-169780277-G-A p.Ala1274Val missense ABCB11 2 82204 2.43297E-5 41102 0 NA
2-169780300-C-T p.Glu1266Glu synonymous ABCB11 1 82024 1.21916E-5 41012 0 4.04858E-6
2-169780309-T-A p.Lys1263Asn missense ABCB11 1 82060 1.21862E-5 41030 0 NA
2-169780320-C-G p.Ala1260Pro missense ABCB11 1 81940 1.22041E-5 40970 0 1.62056E-5
2-169780323-C-T p.Val1259Ile missense ABCB11 5 81910 6.10426E-5 40955 0 9.58344E-5
2-169780331-G-A p.Thr1256Met missense+splice_region ABCB11 1 81786 1.2227E-5 40893 0 0.00125
2-169781167-C-G p.Lys1255Asn missense+splice_region ABCB11 1 82462 1.21268E-5 41231 0 NA
2-169781209-T-C p.Leu1241Leu synonymous ABCB11 1 82498 1.21215E-5 41249 0 4.01175E-6
2-169781220-T-C p.Lys1238Glu missense ABCB11 1 82504 1.21206E-5 41252 0 NA
2-169781226-C-A p.Asp1236Tyr missense ABCB11 3 82500 3.63636E-5 41250 0 6.37064E-5
2-169781228-C-T p.Arg1235Gln missense ABCB11 1 82498 1.21215E-5 41249 0 1.65629E-5
2-169781229-G-A p.Arg1235* stop_gained ABCB11 2 82494 2.42442E-5 41247 0 3.18634E-5
2-169781232-C-T p.Val1234Ile missense ABCB11 1 82500 1.21212E-5 41250 0 NA
2-169781233-A-G p.Ile1233Ile synonymous ABCB11 1 82502 1.21209E-5 41251 0 NA
2-169781235-T-C p.Ile1233Val missense ABCB11 1 82504 1.21206E-5 41252 0 NA
2-169781239-C-A p.Arg1231Arg synonymous ABCB11 2 82500 2.42424E-5 41250 0 4.01152E-6
2-169781245-A-C p.Ile1229Met missense ABCB11 1 82506 1.21203E-5 41253 0 4.96853E-5
2-169781255-C-A p.Arg1226Leu missense ABCB11 2 82514 2.42383E-5 41257 0 3.31257E-5
2-169781256-G-A p.Arg1226Cys missense ABCB11 3 82516 3.63566E-5 41258 0 6.25E-4
2-169781263-C-G p.Glu1223Asp missense ABCB11 1 82518 1.21186E-5 41259 0 3.31268E-5
2-169781278-T-C p.Gln1218Gln synonymous ABCB11 1 82496 1.21218E-5 41248 0 NA
2-169781285-C-G p.Gly1216Ala missense ABCB11 1 82494 1.21221E-5 41247 0 1.6304E-5
2-169781289-G-C p.Gln1215Glu missense ABCB11 1 82486 1.21233E-5 41243 0 3.18878E-5
2-169781295-C-A p.Gly1213Trp missense ABCB11 1 82466 1.21262E-5 41233 0 NA
2-169781298-C-T p.Val1212Ile missense ABCB11 4 82452 4.85131E-5 41226 0 4.14862E-5
2-169781298-C-A p.Val1212Phe missense ABCB11 1 82452 1.21283E-5 41226 0 NA
2-169781299-G-A p.Asn1211Asn synonymous ABCB11 2 82452 2.42565E-5 41226 0 3.18857E-5
2-169781301-T-C p.Asn1211Asp missense ABCB11 1 82456 1.21277E-5 41228 0 6.46444E-5
2-169781307-C-T p.Glu1209Lys missense ABCB11 1 82438 1.21303E-5 41219 0 3.19264E-5
2-169781312-T-A p.Lys1207Ile missense+splice_region ABCB11 2 82428 2.42636E-5 41214 0 NA
2-169781318-A-T c.3619-5T>A splice_region ABCB11 1 82386 1.2138E-5 41193 0 NA
2-169783658-G-A c.3618+8C>T splice_region ABCB11 3 81992 3.65889E-5 40996 0 9.55231E-5
2-169783668-C-T p.Glu1206Lys missense+splice_region ABCB11 1 82212 1.21637E-5 41106 0 NA
2-169783684-A-G p.Phe1200Phe synonymous ABCB11 1 82422 1.21327E-5 41211 0 NA
2-169783701-C-T p.Ala1195Thr missense ABCB11 4 82544 4.8459E-5 41272 0 NA
2-169783728-C-T p.Glu1186Lys missense ABCB11 333 82670 0.00402806 41335 7 0.0089479
2-169783736-A-G p.Ile1183Thr missense ABCB11 47 82698 5.68333E-4 41349 1 9.87576E-4
2-169783756-A-G p.Tyr1176Tyr synonymous ABCB11 1 82742 1.20858E-5 41371 0 NA
2-169783760-T-G p.Lys1175Thr missense ABCB11 88 82740 0.00106357 41370 0 6.41941E-4
2-169783765-A-G p.Asn1173Asn synonymous ABCB11 1 82750 1.20846E-5 41375 0 1.6562E-5
2-169783772-A-G p.Met1171Thr missense ABCB11 30 82752 3.62529E-4 41376 0 0.00100705
2-169783772-A-T p.Met1171Lys missense ABCB11 2 82752 2.41686E-5 41376 0 NA
2-169783776-T-A p.Ile1170Leu missense ABCB11 1 82758 1.20834E-5 41379 0 3.18431E-5
2-169783783-G-A p.Ala1167Ala synonymous ABCB11 2 82742 2.41715E-5 41371 0 8.28185E-6
2-169783801-C-T c.*1882-1G>A splice_acceptor ABCB11 1 82746 1.20852E-5 41373 0 NA
2-169783826-C-G p.Arg1153Pro missense ABCB11 1 82726 1.20881E-5 41363 0 3.18492E-5
2-169783849-T-C p.Lys1145Lys synonymous ABCB11 27 82694 3.26505E-4 41347 0 7.9628E-4
2-169783862-C-A p.Gly1141Val missense ABCB11 1 82672 1.2096E-5 41336 0 5.03525E-4
2-169783879-A-G c.3412-7T>C splice_region ABCB11 1 82584 1.21089E-5 41292 0 9.55171E-5
2-169787188-T-G p.Asp1133Ala missense ABCB11 2 81460 2.45519E-5 40730 0 NA
2-169787203-C-T p.Arg1128His missense ABCB11 1 81890 1.22115E-5 40945 0 8.86069E-6
2-169787228-T-C p.Ser1120Gly missense ABCB11 2 82158 2.43433E-5 41079 0 NA
2-169787236-C-T p.Cys1117Tyr missense ABCB11 2 82272 2.43096E-5 41136 0 8.51934E-6
2-169787237-A-T p.Cys1117Ser missense ABCB11 1 82270 1.21551E-5 41135 0 NA
2-169787238-T-C p.Gly1116Gly synonymous ABCB11 1 82274 1.21545E-5 41137 0 8.51629E-6
2-169787238-T-A p.Gly1116Gly synonymous ABCB11 1 82274 1.21545E-5 41137 0 NA
2-169787251-A-G p.Val1112Ala missense ABCB11 1 82386 1.2138E-5 41193 0 4.0307E-6
2-169787252-C-T p.Val1112Ile missense ABCB11 3 82390 3.64122E-5 41195 0 3.1841E-5
2-169787256-C-T p.Ala1110Ala synonymous ABCB11 252 82408 0.00305796 41204 4 0.00643189
2-169787257-G-A p.Ala1110Val missense ABCB11 1 82402 1.21356E-5 41201 0 6.36943E-5
2-169787280-C-T p.Ser1102Ser synonymous ABCB11 1 82450 1.21286E-5 41225 0 8.04466E-6
2-169787280-C-A p.Ser1102Ser synonymous ABCB11 2 82450 2.42571E-5 41225 0 1.74899E-5
2-169787281-G-A p.Ser1102Leu missense ABCB11 1 82450 1.21286E-5 41225 0 1.75852E-5
2-169787286-T-G p.Ser1100Ser synonymous ABCB11 1 82456 1.21277E-5 41228 0 8.8458E-6
2-169787296-T-C p.Asn1097Ser missense ABCB11 1 82434 1.21309E-5 41217 0 NA
2-169787307-C-T p.Ser1093Ser synonymous ABCB11 2 82376 2.42789E-5 41188 0 3.23784E-5
2-169787308-G-C p.Ser1093Trp missense ABCB11 1 82366 1.21409E-5 41183 0 NA
2-169787309-A-G p.Ser1093Pro missense ABCB11 1 82352 1.2143E-5 41176 0 1.2738E-4
2-169787310-G-A p.Asp1092Asp synonymous ABCB11 4 82356 4.85696E-5 41178 1 5.03109E-5
2-169787318-G-A p.Arg1090* stop_gained ABCB11 1 82318 1.2148E-5 41159 0 2.14971E-5
2-169787323-G-A p.Pro1088Leu missense ABCB11 1 82276 1.21542E-5 41138 0 NA
2-169787328-T-C p.Thr1086Thr synonymous ABCB11 941 82208 0.0114466 41104 34 0.0259252
2-169787329-G-A p.Thr1086Ile missense ABCB11 2 82224 2.43238E-5 41112 0 NA
2-169787340-A-G p.Asp1082Asp synonymous ABCB11 2 82112 2.4357E-5 41056 0 2.95556E-5
2-169787345-C-T p.Val1081Ile missense ABCB11 2 82070 2.43694E-5 41035 0 NA
2-169787360-C-T p.Gly1076Arg missense ABCB11 1 81876 1.22136E-5 40938 0 NA
2-169787378-G-C c.3214-6C>G splice_region ABCB11 4 81720 4.89476E-5 40860 0 1.78402E-4
2-169788883-T-G c.3213+4A>C splice_region ABCB11 1 82082 1.21829E-5 41041 0 6.1964E-6
2-169788890-T-A p.Lys1070Asn missense ABCB11 1 82200 1.21655E-5 41100 0 NA
2-169788893-T-G p.Glu1069Asp missense ABCB11 1 82240 1.21595E-5 41120 0 3.1837E-5
2-169788899-TG-CC p.Ala1067Gly missense ABCB11 1 82302 1.21504E-5 41151 0 NA
2-169788912-A-G p.Val1063Ala missense ABCB11 1 82454 1.2128E-5 41227 0 0.0015121
2-169788924-G-A p.Pro1059Leu missense ABCB11 1 82536 1.21159E-5 41268 0 NA
2-169788930-C-T p.Arg1057Gln missense ABCB11 9 82522 1.09062E-4 41261 0 6.28725E-4
2-169788935-C-A p.Leu1055Leu synonymous ABCB11 2 82570 2.42219E-5 41285 0 3.19081E-5
2-169788952-G-A p.Arg1050Cys missense ABCB11 2 82636 2.42025E-5 41318 0 1.24331E-5
2-169788967-T-C p.Lys1045Glu missense ABCB11 1 82692 1.20931E-5 41346 0 1.07365E-5
2-169788968-A-G p.Ala1044Ala synonymous ABCB11 29 82680 3.5075E-4 41340 0 1.38151E-4
2-169788970-C-G p.Ala1044Pro missense ABCB11 1 82690 1.20934E-5 41345 0 NA
2-169788988-T-C p.Thr1038Ala missense ABCB11 2 82690 2.41867E-5 41345 0 9.27885E-6
2-169788989-G-A p.Tyr1037Tyr synonymous ABCB11 2 82688 2.41873E-5 41344 0 6.37552E-5
2-169789016-T-C p.Ala1028Ala synonymous ABCB11 42137 82090 0.513302 41045 11066 0.651875
2-169789019-A-T p.Ser1027Arg missense ABCB11 1 82622 1.21033E-5 41311 0 4.02508E-6
2-169789034-A-G p.Ser1022Ser synonymous ABCB11 2 82640 2.42014E-5 41320 0 6.36821E-5
2-169789040-C-T p.Val1020Val synonymous ABCB11 1 82622 1.21033E-5 41311 0 8.9556E-6
2-169791691-C-T c.3056+3G>A splice_region ABCB11 1 82680 1.20948E-5 41340 0 NA
2-169791699-C-T p.Val1017Val synonymous ABCB11 1 82706 1.2091E-5 41353 0 NA
2-169791717-C-T p.Gly1011Gly synonymous ABCB11 1 82722 1.20887E-5 41361 0 8.28089E-6
2-169791734-A-G p.Leu1006Leu synonymous ABCB11 4 82740 4.83442E-5 41370 0 3.1839E-5
2-169791765-C-T p.Ala995Ala synonymous ABCB11 30 82734 3.62608E-4 41367 0 7.9628E-4
2-169791806-C-T p.Gly982Arg missense ABCB11 2 82770 2.41633E-5 41385 0 8.28034E-6
2-169791807-G-A p.Tyr981Tyr synonymous ABCB11 75 82774 9.06082E-4 41387 0 0.00280237
2-169791820-T-C p.Lys977Arg missense ABCB11 1 82796 1.20779E-5 41398 0 1.65607E-5
2-169791823-T-C p.Gln976Arg missense ABCB11 76 82796 9.17919E-4 41398 0 0.00151057
2-169791832-G-A p.Thr973Ile missense ABCB11 2 82806 2.41528E-5 41403 0 1.65607E-5
2-169791842-G-A p.Pro970Ser missense ABCB11 5 82794 6.03908E-5 41397 0 2.60776E-4
2-169791843-C-T p.Lys969Lys synonymous ABCB11 43 82794 5.19361E-4 41397 0 0.00100705
2-169791849-C-T p.Leu967Leu synonymous ABCB11 1 82796 1.20779E-5 41398 0 NA
2-169791857-T-A p.Thr965Ser missense ABCB11 1 82776 1.20808E-5 41388 0 9.10898E-5
2-169791864-T-C p.Ala962Ala synonymous ABCB11 3 82762 3.62485E-5 41381 0 3.50318E-4
2-169791864-T-G p.Ala962Ala synonymous ABCB11 1 82762 1.20828E-5 41381 0 NA
2-169791871-A-T p.Ile960Asn missense ABCB11 1 82748 1.20849E-5 41374 0 NA
2-169791877-C-T p.Arg958Gln missense ABCB11 1 82774 1.20811E-5 41387 0 4.96936E-5
2-169791878-G-A p.Arg958Trp missense ABCB11 2 82774 2.41622E-5 41387 0 9.55171E-5
2-169791909-G-C p.Ile947Met missense ABCB11 1 82692 1.20931E-5 41346 0 NA
2-169791916-C-T p.Ser945Asn missense ABCB11 15 82672 1.8144E-4 41336 0 2.54826E-4
2-169791920-G-C p.Leu944Val missense ABCB11 2 82650 2.41984E-5 41325 0 8.32404E-6
2-169791928-T-C p.Asn941Ser missense ABCB11 3 82586 3.63258E-5 41293 0 6.25E-4
2-169791933-A-C p.Ile939Met missense+splice_region ABCB11 2 82538 2.42313E-5 41269 0 3.3561E-5
2-169791938-G-A c.2815-3C>T splice_region ABCB11 1 82462 1.21268E-5 41231 0 NA
2-169792735-A-T c.2814+5T>A splice_region ABCB11 2 81814 2.44457E-5 40907 0 8.57015E-6
2-169792743-T-A p.Gly937Gly synonymous ABCB11 41 82010 4.99939E-4 41005 0 9.23626E-4
2-169792755-C-A p.Leu933Leu synonymous ABCB11 1 82198 1.21657E-5 41099 0 3.18512E-5
2-169792771-C-T p.Arg928Gln missense ABCB11 1 82326 1.21468E-5 41163 0 9.55353E-5
2-169792772-G-A p.Arg928* stop_gained ABCB11 1 82344 1.21442E-5 41172 0 8.30868E-6
2-169792785-T-C p.Thr923Thr synonymous ABCB11 2 82446 2.42583E-5 41223 0 8.03568E-6
2-169792786-G-A p.Thr923Ile missense ABCB11 14 82460 1.69779E-4 41230 0 0.00100705
2-169792790-A-G p.Leu922Leu synonymous ABCB11 1 82478 1.21244E-5 41239 0 8.29215E-6
2-169792794-C-T p.Arg920Arg synonymous ABCB11 1 82494 1.21221E-5 41247 0 8.29022E-6
2-169792795-C-G p.Arg920Thr missense ABCB11 5 82512 6.05972E-5 41256 0 NA
2-169792797-G-T p.Thr919Thr synonymous ABCB11 7 82524 8.48238E-5 41262 0 9.55292E-5
2-169792797-GGTCTGTGT-G p.Thr917fs frameshift ABCB11 1 82524 1.21177E-5 41262 0 NA
2-169792804-G-C p.Thr917Arg missense ABCB11 1 82536 1.21159E-5 41268 0 NA
2-169792815-T-C p.Leu913Leu synonymous ABCB11 3 82550 3.63416E-5 41275 0 8.285E-6
2-169792827-G-A p.Pro909Pro synonymous ABCB11 3 82572 3.63319E-5 41286 0 NA
2-169792869-G-C p.Ser895Ser synonymous ABCB11 1 82654 1.20986E-5 41327 0 NA
2-169792889-C-G p.Ala889Pro missense ABCB11 1 82686 1.20939E-5 41343 0 NA
2-169792890-C-G p.Val888Val synonymous ABCB11 1 82700 1.20919E-5 41350 0 3.18695E-5
2-169792898-C-A p.Val886Phe missense ABCB11 1 82658 1.2098E-5 41329 0 NA
2-169792899-G-A p.Asn885Asn synonymous ABCB11 1 82654 1.20986E-5 41327 0 1.04327E-4
2-169792916-C-A p.Val880Phe missense ABCB11 1 82612 1.21048E-5 41306 0 NA
2-169792934-A-G p.Ser874Pro missense ABCB11 6 82426 7.27926E-5 41213 0 1.48518E-4
2-169792937-C-T p.Gly873Ser missense ABCB11 2 82340 2.42895E-5 41170 0 6.25782E-4
2-169792938-G-A p.Ala872Ala synonymous ABCB11 3 82330 3.64387E-5 41165 1 6.37674E-5
2-169792941-A-G p.Ala871Ala splice_region+synonymous ABCB11 1 82248 1.21584E-5 41124 0 NA
2-169792947-C-T c.2611-4G>A splice_region ABCB11 1 82064 1.21856E-5 41032 0 3.19142E-5
2-169801116-C-A p.Gly870Val missense+splice_region ABCB11 5 81536 6.13226E-5 40768 0 2.56586E-5
2-169801117-C-T p.Gly870Arg missense+splice_region ABCB11 2 81534 2.45296E-5 40767 0 NA
2-169801126-G-A p.Gln867* stop_gained ABCB11 1 81556 1.22615E-5 40778 0 NA
2-169801131-G-A p.Ala865Val missense ABCB11 14 81566 1.7164E-4 40783 0 0.00129658
2-169801134-T-A p.Asp864Val missense ABCB11 1 81586 1.2257E-5 40793 0 NA
2-169801138-T-C p.Thr863Ala missense ABCB11 2 81588 2.45134E-5 40794 0 4.06081E-6
2-169801156-A-G p.Leu857Leu synonymous ABCB11 2 81638 2.44984E-5 40819 0 6.37714E-5
2-169801159-C-T p.Ala856Thr missense ABCB11 1 81624 1.22513E-5 40812 0 NA
2-169801160-T-C p.Gly855Gly synonymous ABCB11 1 81634 1.22498E-5 40817 0 3.18776E-5
2-169801167-C-A p.Ser853Ile missense ABCB11 1 81642 1.22486E-5 40821 0 NA
2-169801170-T-G p.Asn852Thr missense ABCB11 1 81704 1.22393E-5 40852 0 NA
2-169801182-TC-T p.Asp848fs frameshift ABCB11 1 81750 1.22324E-5 40875 0 NA
2-169801205-C-A p.Leu840Leu synonymous ABCB11 6 82004 7.31672E-5 41002 0 4.14952E-5
2-169801210-T-C p.Met839Val missense ABCB11 9 82056 1.09681E-4 41028 0 9.55962E-5
2-169801230-C-T p.Arg832His missense ABCB11 1 82206 1.21646E-5 41103 0 4.02308E-6
2-169801236-C-G p.Arg830Thr missense ABCB11 1 82232 1.21607E-5 41116 0 1.207E-5
2-169801242-G-A p.Thr828Ile missense ABCB11 1 82250 1.21581E-5 41125 0 2.4924E-5
2-169801248-A-G p.Leu826Pro missense ABCB11 1 82232 1.21607E-5 41116 0 4.02382E-6
2-169801253-C-T p.Gly824Gly synonymous ABCB11 2 82238 2.43197E-5 41119 0 2.4941E-5
2-169801258-A-G p.Ser823Pro missense ABCB11 1 82236 1.21601E-5 41118 0 NA
2-169801272-T-A p.Tyr818Phe missense ABCB11 9 82206 1.09481E-4 41103 0 1.59378E-4
2-169801376-T-C p.Gln813Gln synonymous ABCB11 2 82242 2.43185E-5 41121 0 5.84567E-5
2-169801395-C-T p.Cys807Tyr missense ABCB11 1 82292 1.21518E-5 41146 0 NA
2-169801401-A-G p.Met805Thr missense ABCB11 1 82264 1.2156E-5 41132 0 NA
2-169801403-T-C p.Ala804Ala synonymous ABCB11 991 82242 0.0120498 41121 26 0.0227751
2-169801405-C-G p.Ala804Pro missense ABCB11 1 82254 1.21575E-5 41127 0 NA
2-169801409-A-C p.Phe802Leu missense ABCB11 2 82256 2.43143E-5 41128 0 1.0147E-5
2-169801413-A-C p.Leu801Arg missense ABCB11 6 82242 7.29554E-5 41121 0 1.26409E-4
2-169801429-T-C p.Asn796Asp missense ABCB11 2 82142 2.43481E-5 41071 0 3.18898E-5
2-169801430-G-A p.Ile795Ile synonymous ABCB11 1 82138 1.21746E-5 41069 0 1.05979E-5
2-169814472-A-G c.2343+2T>C splice_donor ABCB11 1 80314 1.24511E-5 40157 0 NA
2-169814473-C-A c.2343+1G>T splice_donor ABCB11 2 80568 2.48238E-5 40284 0 NA
2-169814485-G-C p.Gln778Glu missense ABCB11 1 81070 1.2335E-5 40535 0 1.2273E-5
2-169814491-A-G p.Phe776Leu missense ABCB11 1 81408 1.22838E-5 40704 0 NA
2-169814515-C-A p.Val768Phe missense ABCB11 1 81930 1.22055E-5 40965 0 NA
2-169814516-T-C p.Thr767Thr synonymous ABCB11 1 81940 1.22041E-5 40970 0 4.04357E-6
2-169814516-T-G p.Thr767Thr synonymous ABCB11 1 81940 1.22041E-5 40970 0 NA
2-169814517-G-A p.Thr767Ile missense ABCB11 2 81954 2.44039E-5 40977 0 4.04308E-6
2-169814519-C-T p.Gly766Gly synonymous ABCB11 13 81946 1.58641E-4 40973 0 0.00151057
2-169814519-C-A p.Gly766Gly synonymous ABCB11 1 81946 1.22032E-5 40973 0 3.39363E-5
2-169814521-C-T p.Gly766Arg missense ABCB11 1 81920 1.2207E-5 40960 0 2.83071E-5
2-169814522-G-A p.Asn765Asn synonymous ABCB11 2 81948 2.44057E-5 40974 0 5.07786E-5
2-169814553-A-T p.Met755Lys missense ABCB11 1 81866 1.22151E-5 40933 0 NA
2-169814559-G-A p.Pro753Leu missense ABCB11 1 81824 1.22214E-5 40912 0 NA
2-169814579-T-A p.Lys746Asn missense ABCB11 6 81526 7.35962E-5 40763 0 NA
2-169814583-A-C p.Leu745Arg missense ABCB11 2 81454 2.45537E-5 40727 0 NA
2-169814588-C-A p.Arg743Ser missense ABCB11 1 81360 1.22911E-5 40680 0 4.03454E-6
2-169814589-C-G p.Arg743Thr missense ABCB11 6 81344 7.37608E-5 40672 0 4.84176E-5
2-169814596-C-T p.Val741Ile missense ABCB11 5 81180 6.15915E-5 40590 0 1.66628E-5
2-169814597-T-C p.Pro740Pro synonymous ABCB11 1 81162 1.2321E-5 40581 0 NA
2-169814614-C-T p.Glu735Lys missense ABCB11 2 80766 2.47629E-5 40383 0 NA
2-169814615-T-G p.Glu734Asp missense ABCB11 6 80750 7.43034E-5 40375 0 5.25079E-5
2-169814615-T-C p.Glu734Glu synonymous ABCB11 1 80750 1.23839E-5 40375 0 NA
2-169814624-A-C p.Pro731Pro synonymous ABCB11 3 80534 3.72513E-5 40267 0 9.57854E-5
2-169814626-G-A p.Pro731Ser missense ABCB11 27 80476 3.35504E-4 40238 0 6.41923E-4
2-169814627-A-G p.Ile730Ile synonymous ABCB11 1 80424 1.24341E-5 40212 0 NA
2-169814633-C-T p.Lys728Lys synonymous ABCB11 1 80360 1.2444E-5 40180 0 NA
2-169820713-G-C c.2178+3C>G splice_region ABCB11 1 81296 1.23007E-5 40648 0 NA
2-169820715-C-T c.2178+1G>A splice_donor ABCB11 4 81316 4.91908E-5 40658 0 6.03296E-6
2-169820721-T-C p.Arg725Gly missense ABCB11 1 81408 1.22838E-5 40704 0 NA
2-169820732-T-C p.Tyr721Cys missense ABCB11 1 81544 1.22633E-5 40772 0 3.81069E-5
2-169820740-C-T p.Lys718Lys synonymous ABCB11 1 81630 1.22504E-5 40815 0 NA
2-169820759-A-G p.Leu712Ser missense ABCB11 2 81804 2.44487E-5 40902 0 3.46308E-5
2-169820760-A-G p.Leu712Leu synonymous ABCB11 430 81796 0.00525698 40898 3 0.00885259
2-169820765-G-C p.Pro710Arg missense ABCB11 1 81840 1.2219E-5 40920 0 NA
2-169820766-G-T p.Pro710Thr missense ABCB11 1 81838 1.22193E-5 40919 0 NA
2-169820769-C-T p.Glu709Lys missense ABCB11 14 81874 1.70994E-4 40937 0 2.71315E-4
2-169820770-G-A p.His708His synonymous ABCB11 2 81868 2.44296E-5 40934 0 1.01482E-4
2-169820787-G-A p.Leu703Phe missense ABCB11 2 82056 2.43736E-5 41028 0 1.00651E-4
2-169820793-A-G p.Ser701Pro missense ABCB11 14 82108 1.70507E-4 41054 0 0.00252016
2-169820799-A-G p.Ser699Pro missense ABCB11 3 82098 3.65417E-5 41049 0 5.47777E-6
2-169820801-C-T p.Arg698His missense ABCB11 366 82060 0.00446015 41030 1 0.00645117
2-169820802-G-A p.Arg698Cys missense ABCB11 10 82072 1.21844E-4 41036 0 0.00100908
2-169820803-T-C p.Gln697Gln synonymous ABCB11 1 82064 1.21856E-5 41032 0 NA
2-169820807-C-T p.Arg696Gln missense ABCB11 13 82056 1.58428E-4 41028 0 3.50989E-4
2-169820808-G-T p.Arg696Arg synonymous ABCB11 2 82082 2.43659E-5 41041 0 0.0020202
2-169820817-C-T p.Ala693Thr missense+splice_region ABCB11 1 82054 1.21871E-5 41027 0 2.90684E-5
2-169820817-C-A p.Ala693Ser missense+splice_region ABCB11 1 82054 1.21871E-5 41027 0 NA
2-169820823-A-G c.2076-5T>C splice_region ABCB11 1 82010 1.21936E-5 41005 0 NA
2-169824930-A-T c.2075+7T>A splice_region ABCB11 2 81712 2.44762E-5 40856 0 4.09266E-6
2-169824959-C-A p.Gly685Trp missense ABCB11 1 81868 1.22148E-5 40934 0 5.61987E-5
2-169824961-CT-C p.Arg684fs frameshift ABCB11 2 81874 2.44278E-5 40937 0 NA
2-169824962-T-C p.Arg684Gly missense ABCB11 1 81870 1.22145E-5 40935 0 NA
2-169824973-C-T p.Arg680Lys missense ABCB11 1 81804 1.22243E-5 40902 0 3.18918E-5
2-169824975-C-T p.Ala679Ala synonymous ABCB11 4 81786 4.89081E-5 40893 0 9.56755E-5
2-169824976-G-A p.Ala679Val missense ABCB11 37 81750 4.52599E-4 40875 0 0.00625
2-169824983-T-C p.Met677Val missense ABCB11 3097 81656 0.0379274 40828 158 0.0561543
2-169824984-G-A p.Asp676Asp synonymous ABCB11 1 81722 1.22366E-5 40861 0 1.87463E-5
2-169825008-A-C c.2012-8T>G splice_region ABCB11 8 81416 9.82608E-5 40708 0 6.37755E-5
2-169825859-C-G c.2011+1G>C splice_donor ABCB11 3 81724 3.67089E-5 40862 0 NA
2-169825864-T-C p.Ile669Met missense ABCB11 1 81836 1.22196E-5 40918 0 NA
2-169825869-C-G p.Asp668His missense ABCB11 1 81896 1.22106E-5 40948 0 NA
2-169825875-C-T p.Glu666Lys missense ABCB11 1 81980 1.21981E-5 40990 0 NA
2-169825881-G-A p.Leu664Phe missense ABCB11 3 82042 3.65666E-5 41021 0 5.5211E-5
2-169825881-G-C p.Leu664Val missense ABCB11 3 82042 3.65666E-5 41021 0 2.76055E-5
2-169825887-G-C p.Gln662Glu missense ABCB11 3 82084 3.65479E-5 41042 0 4.04001E-6
2-169825894-C-T p.Gln659Gln synonymous ABCB11 3 82098 3.65417E-5 41049 0 1.61474E-5
2-169825896-G-A p.Gln659* stop_gained ABCB11 2 82118 2.43552E-5 41059 0 NA
2-169825901-T-A p.Gln657Leu missense ABCB11 2 82126 2.43528E-5 41063 0 NA
2-169825907-G-A p.Thr655Ile missense ABCB11 1 82136 1.21749E-5 41068 0 2.01759E-5
2-169825929-C-T p.Gly648Ser missense ABCB11 1 82122 1.2177E-5 41061 0 4.03776E-6
2-169825934-C-T p.Arg646Lys missense ABCB11 2 82128 2.43522E-5 41064 0 1.81153E-4
2-169825939-C-T p.Leu644Leu synonymous ABCB11 2 82122 2.4354E-5 41061 0 6.88705E-5
2-169825940-A-G p.Leu644Pro missense ABCB11 1 82112 1.21785E-5 41056 0 8.60052E-6
2-169825941-G-A p.Leu644Leu synonymous ABCB11 1 82094 1.21812E-5 41047 0 NA
2-169825960-T-G p.Arg637Ser missense ABCB11 2 82012 2.43867E-5 41006 0 8.5237E-6
2-169825966-C-T p.Val635Val synonymous ABCB11 1 81950 1.22026E-5 40975 0 3.18979E-5
2-169825984-A-C p.Phe629Leu missense ABCB11 1 81806 1.2224E-5 40903 0 NA
2-169826000-T-C p.Asp624Gly missense ABCB11 3 81680 3.67287E-5 40840 0 4.43939E-5
2-169826000-T-A p.Asp624Val missense ABCB11 1 81680 1.22429E-5 40840 0 NA
2-169826002-T-G p.Ala623Ala synonymous ABCB11 1 81684 1.22423E-5 40842 0 NA
2-169826015-G-A p.Thr619Met missense ABCB11 4 81566 4.904E-5 40783 0 3.39645E-5
2-169826016-T-C p.Thr619Ala missense ABCB11 5 81572 6.12955E-5 40786 0 8.07311E-6
2-169826020-C-A p.Leu617Phe missense ABCB11 2 81554 2.45236E-5 40777 0 4.03799E-6
2-169826024-C-T p.Arg616His missense ABCB11 1 81480 1.2273E-5 40740 0 2.01971E-5
2-169826029-A-G p.Ala614Ala synonymous ABCB11 4 81446 4.91123E-5 40723 0 5.11884E-5
2-169826030-G-A p.Ala614Val missense ABCB11 1 81430 1.22805E-5 40715 0 4.03985E-6
2-169826034-C-T p.Val613Ile missense ABCB11 1 81420 1.2282E-5 40710 0 1.212E-5
2-169826042-A-G p.Ile610Thr missense ABCB11 1 81392 1.22862E-5 40696 0 0.00100705
2-169826573-C-A p.Val597Val synonymous ABCB11 276 81660 0.00337987 40830 12 0.0225282
2-169826578-T-C p.Met596Val missense ABCB11 1 81728 1.22357E-5 40864 0 NA
2-169826590-C-G p.Glu592Gln missense ABCB11 10 81792 1.22261E-4 40896 0 9.65274E-5
2-169826591-A-T p.Asn591Lys missense ABCB11 1 81800 1.22249E-5 40900 0 NA
2-169826592-T-C p.Asn591Ser missense ABCB11 252 81786 0.00308121 40893 12 0.021875
2-169826601-G-A p.Ala588Val missense ABCB11 4 81828 4.8883E-5 40914 0 8.04428E-6
2-169826606-G-T p.Thr586Thr synonymous ABCB11 1 81838 1.22193E-5 40919 0 NA
2-169826611-C-T p.Ala585Thr missense ABCB11 1 81854 1.22169E-5 40927 0 4.02201E-6
2-169826614-T-C p.Met584Val missense ABCB11 1 81864 1.22154E-5 40932 0 NA
2-169826631-T-C p.Lys578Arg missense ABCB11 2 81876 2.44272E-5 40938 0 1.65972E-5
2-169826640-C-T p.Arg575Gln missense ABCB11 8 81884 9.76992E-5 40942 0 1.36798E-4
2-169826656-C-T p.Ala570Thr missense ABCB11 6 81920 7.32422E-5 40960 0 4.02567E-6
2-169826668-T-G p.Arg566Arg synonymous ABCB11 1 82002 1.21948E-5 41001 0 8.36064E-6
2-169826669-T-G p.Gln565His missense ABCB11 1 82004 1.21945E-5 41002 0 NA
2-169826672-T-C p.Lys564Lys synonymous ABCB11 6 82018 7.31547E-5 41009 0 9.56511E-5
2-169826690-C-G p.Gln558His missense ABCB11 6 82056 7.31208E-5 41028 0 1.71721E-5
2-169826693-G-A p.Gly557Gly synonymous ABCB11 6 82048 7.31279E-5 41024 0 1.7264E-5
2-169826695-C-T p.Gly557Ser missense ABCB11 2 82040 2.43784E-5 41020 0 4.03656E-6
2-169826700-C-G p.Gly555Ala missense ABCB11 4 82020 4.87686E-5 41010 0 6.25E-4
2-169826709-A-T p.Val552Asp missense ABCB11 1 82024 1.21916E-5 41012 0 4.04642E-6
2-169826711-A-G p.Leu551Leu synonymous ABCB11 1 82024 1.21916E-5 41012 0 9.21608E-6
2-169826717-G-A p.Asp549Asp synonymous ABCB11 4 82004 4.87781E-5 41002 0 3.18817E-5
2-169826719-C-G p.Asp549His missense ABCB11 1 81996 1.21957E-5 40998 0 NA
2-169826729-G-A c.1639-4C>T splice_region ABCB11 1 81986 1.21972E-5 40993 0 3.18735E-5
2-169826731-T-C c.1639-6A>G splice_region ABCB11 3 81978 3.65952E-5 40989 0 6.37592E-5
2-169826844-G-A p.Ser70Leu missense ABCB11 1 78862 1.26804E-5 39431 0 3.19E-5
2-169826852-C-T p.Gln67Gln synonymous ABCB11 1 78568 1.27278E-5 39284 0 NA
2-169826865-C-T p.Gly63Glu missense+splice_region ABCB11 12 78160 1.53531E-4 39080 0 1.26167E-4
2-169826866-C-G p.Gly63Arg missense+splice_region ABCB11 1 78134 1.27985E-5 39067 0 NA
2-169828348-TA-T c.1638+8delT splice_region ABCB11 4 81656 4.8986E-5 40828 0 6.37592E-5
2-169828359-G-T p.Gln546Lys missense+splice_region ABCB11 38 81862 4.64196E-4 40931 0 0.00125
2-169828367-T-G p.Asp543Ala missense ABCB11 2 80872 2.47304E-5 40436 0 0.127016
2-169828367-T-C p.Asp543Gly missense ABCB11 1 81564 1.22603E-5 40782 0 3.20492E-5
2-169828370-AT-A p.Met542fs frameshift ABCB11 1 81672 1.22441E-5 40836 0 NA
2-169828372-GA-G p.Ile541fs frameshift ABCB11 1 81726 1.2236E-5 40863 0 NA
2-169828378-GTTGT-G p.Tyr538fs frameshift ABCB11 1 81824 1.22214E-5 40912 0 NA
2-169828384-GGCATTGGCCTC-G p.Glu534fs frameshift ABCB11 1 81870 1.22145E-5 40935 0 NA
2-169828385-G-T p.Ala537Asp missense ABCB11 1 81882 1.22127E-5 40941 0 NA
2-169828390-G-A p.Ala535Ala synonymous ABCB11 29 81922 3.53995E-4 40961 0 9.25367E-4
2-169828393-C-T p.Glu534Glu synonymous ABCB11 1 81940 1.22041E-5 40970 0 NA
2-169828409-A-G p.Val529Ala missense ABCB11 2 81932 2.44105E-5 40966 0 NA
2-169828427-G-C p.Ala523Gly missense ABCB11 1 81986 1.21972E-5 40993 0 1.20675E-5
2-169828431-C-T p.Asp522Asn missense ABCB11 1 82022 1.21919E-5 41011 0 1.66085E-5
2-169828446-G-A p.Arg517Cys missense ABCB11 1 81972 1.21993E-5 40986 0 1.66215E-5
2-169828456-T-C p.Ala513Ala synonymous ABCB11 1 81974 1.2199E-5 40987 0 8.04842E-6
2-169828460-A-G p.Ile512Thr missense ABCB11 1 81994 1.2196E-5 40997 0 NA
2-169828465-G-T p.Thr510Thr synonymous ABCB11 8 81992 9.75705E-5 40996 0 1.20748E-4
2-169828471-G-A p.Phe508Phe synonymous ABCB11 1 81988 1.21969E-5 40994 0 0.00125
2-169828487-T-G p.Gln503Pro missense ABCB11 1 81998 1.21954E-5 40999 0 NA
2-169828502-A-G p.Ile498Thr missense ABCB11 1 81958 1.22014E-5 40979 0 7.25076E-5
2-169828508-T-A p.Asp496Val missense ABCB11 2 81910 2.4417E-5 40955 0 NA
2-169828509-C-A p.Asp496Tyr missense ABCB11 4 81914 4.88317E-5 40957 0 6.25E-4
2-169828516-C-T p.Trp493* stop_gained ABCB11 1 81856 1.22166E-5 40928 0 4.03054E-6
2-169828527-T-C p.Asn490Asp missense ABCB11 4 81768 4.89189E-5 40884 0 3.18695E-5
2-169828530-G-C p.Leu489Val missense ABCB11 2 81754 2.44636E-5 40877 0 6.37552E-5
2-169828535-C-T p.Arg487His missense ABCB11 13 81674 1.59169E-4 40837 0 1.59398E-4
2-169828535-C-G p.Arg487Pro missense ABCB11 1 81674 1.22438E-5 40837 0 NA
2-169828536-G-A p.Arg487Cys missense ABCB11 1 81650 1.22474E-5 40825 0 6.37674E-5
2-169828542-C-T p.Asp485Asn missense ABCB11 1 81586 1.2257E-5 40793 0 2.01939E-5
2-169828550-T-C p.Asp482Gly missense ABCB11 7 81446 8.59465E-5 40723 0 3.18735E-5
2-169828552-C-CTCAT p.Asp482fs frameshift ABCB11 1 81416 1.22826E-5 40708 0 NA
2-169828554-C-T p.Val481Met missense ABCB11 10 81378 1.22883E-4 40689 0 1.17413E-4
2-169828555-G-A p.Thr480Thr synonymous ABCB11 2 81346 2.45863E-5 40673 0 3.18898E-5
2-169828567-AGCATGG-A c.1435-13_1435-8delCCATGC splice_region ABCB11 16 81134 1.97205E-4 40567 0 1.9241E-4
2-169830231-T-C p.Glu476Glu synonymous ABCB11 1 81976 1.21987E-5 40988 0 NA
2-169830237-G-T p.Pro474Pro synonymous ABCB11 1 82020 1.21921E-5 41010 0 4.02017E-6
2-169830249-T-A p.Arg470Arg synonymous ABCB11 2 82070 2.43694E-5 41035 0 4.01887E-6
2-169830251-G-A p.Arg470* stop_gained ABCB11 2 82064 2.43712E-5 41032 0 1.20576E-5
2-169830255-A-T p.Ile468Ile synonymous ABCB11 1 82070 1.21847E-5 41035 0 0.00100908
2-169830261-T-G p.Gln466His missense ABCB11 2 82108 2.43582E-5 41054 0 NA
2-169830263-G-T p.Gln466Lys missense ABCB11 30 82094 3.65435E-4 41047 0 0.00201816
2-169830277-T-C p.Lys461Arg missense ABCB11 1 82084 1.21826E-5 41042 0 4.01858E-6
2-169830283-G-A p.Ala459Val missense ABCB11 4 82012 4.87733E-5 41006 0 4.97339E-5
2-169830295-C-T p.Gly455Glu missense ABCB11 3 82006 3.65827E-5 41003 0 4.02017E-6
2-169830300-C-A p.Leu453Leu synonymous ABCB11 2 81974 2.4398E-5 40987 0 NA
2-169830309-C-A p.Met450Ile missense ABCB11 2 81958 2.44027E-5 40979 0 1.65788E-5
2-169830310-A-G p.Met450Thr missense ABCB11 2 81944 2.44069E-5 40972 0 3.31587E-5
2-169830318-T-C p.Pro447Pro synonymous ABCB11 2 81926 2.44123E-5 40963 0 NA
2-169830319-G-C p.Pro447Arg missense ABCB11 2 81930 2.44111E-5 40965 0 4.02104E-6
2-169830328-A-G p.Val444Ala missense ABCB11 47093 80924 0.581941 40462 13834 0.582157
2-169830335-T-A p.Asn442Tyr missense ABCB11 2 81754 2.44636E-5 40877 0 4.9762E-5
2-169830357-A-G c.1309-7T>C splice_region ABCB11 1 81554 1.22618E-5 40777 0 NA
2-169833083-T-C c.1308+4A>G splice_region ABCB11 3 81004 3.70352E-5 40502 0 4.14601E-6
2-169833087-C-T p.Lys436Lys splice_region+synonymous ABCB11 3 81152 3.69677E-5 40576 0 8.25362E-6
2-169833101-T-TG p.Arg432fs frameshift ABCB11 1 81540 1.22639E-5 40770 0 NA
2-169833114-G-A p.Phe427Phe synonymous ABCB11 64 81692 7.8343E-4 40846 0 0.00503525
2-169833119-T-C p.Thr426Ala missense ABCB11 1 81670 1.22444E-5 40835 0 NA
2-169833124-T-G p.Asn424Thr missense ABCB11 5 81722 6.1183E-5 40861 0 3.18715E-5
2-169833127-T-C p.His423Arg missense ABCB11 16 81734 1.95757E-4 40867 0 1.91217E-4
2-169833132-T-C p.Glu421Glu synonymous ABCB11 2 81716 2.4475E-5 40858 0 NA
2-169833141-A-G p.Gly418Gly synonymous ABCB11 20 81726 2.4472E-4 40863 0 2.54891E-4
2-169833145-T-C p.Lys417Arg missense ABCB11 1 81770 1.22294E-5 40885 0 8.34934E-6
2-169833146-T-C p.Lys417Glu missense ABCB11 1 81768 1.22297E-5 40884 0 NA
2-169833147-G-T p.Ile416Ile synonymous ABCB11 6 81754 7.33909E-5 40877 0 3.92511E-4
2-169833147-G-A p.Ile416Ile synonymous ABCB11 3 81754 3.66955E-5 40877 0 5.8459E-5
2-169833151-C-T p.Arg415Gln missense ABCB11 17 81738 2.07982E-4 40869 0 0.00100705
2-169833193-G-T p.Pro401His missense ABCB11 1 81684 1.22423E-5 40842 0 NA
2-169833199-T-G c.1198-2A>C splice_acceptor ABCB11 1 81642 1.22486E-5 40821 0 NA
2-169833201-G-T c.1198-4C>A splice_region ABCB11 1 81592 1.22561E-5 40796 0 1.61928E-5
2-169833201-G-C c.1198-4C>G splice_region ABCB11 1 81592 1.22561E-5 40796 0 8.09638E-6
2-169833202-A-G c.1198-5T>C splice_region ABCB11 1 81580 1.22579E-5 40790 0 NA
2-169833204-T-G c.1198-7A>C splice_region ABCB11 6 81528 7.35943E-5 40764 0 6.37999E-5
2-169836370-A-G c.1197+6T>C splice_region ABCB11 1 82258 1.21569E-5 41129 0 NA
2-169836372-A-G c.1197+4T>C splice_region ABCB11 1 82334 1.21457E-5 41167 0 3.2041E-5
2-169836385-T-C p.Thr396Thr synonymous ABCB11 2 82442 2.42595E-5 41221 0 3.19101E-5
2-169836388-C-T p.Glu395Glu synonymous ABCB11 585 82388 0.00710055 41194 18 0.0158954
2-169836396-T-C p.Ile393Val missense ABCB11 1 82412 1.21342E-5 41206 0 2.51661E-5
2-169836398-C-T p.Ser392Asn missense ABCB11 1 82440 1.213E-5 41220 0 NA
2-169836406-TGCTGCACGTCCAGTTGCAAAG-T p.Phe383_Ala389del disruptive_inframe_deletion ABCB11 5 82448 6.06443E-5 41224 0 3.1902E-5
2-169836428-G-T p.Ala382Asp missense ABCB11 1 82400 1.21359E-5 41200 0 NA
2-169836449-T-C p.Asn375Ser missense ABCB11 9 82322 1.09327E-4 41161 0 7.16894E-4
2-169836475-G-A p.Val366Val synonymous ABCB11 5 82200 6.08272E-5 41100 0 3.18735E-5
2-169836480-T-C p.Ser365Gly missense ABCB11 1 82142 1.2174E-5 41071 0 NA
2-169836481-G-A p.Leu364Leu synonymous ABCB11 1 82110 1.21788E-5 41055 0 6.81338E-5
2-169836489-T-C p.Ile362Val missense+splice_region ABCB11 1 81932 1.22052E-5 40966 0 8.71809E-6
2-169836494-AAT-A c.1084-7_1084-6delAT splice_region ABCB11 1 81860 1.2216E-5 40930 0 NA
2-169842615-G-C c.1083+5C>G splice_region ABCB11 1 81926 1.22061E-5 40963 0 1.03127E-5
2-169842615-G-T c.1083+5C>A splice_region ABCB11 2 81926 2.44123E-5 40963 0 1.03127E-5
2-169842621-T-C p.Gln361Arg missense+splice_region ABCB11 1 82184 1.21678E-5 41092 0 NA
2-169842641-A-G p.Tyr354Tyr synonymous ABCB11 11 82460 1.33398E-4 41230 0 1.91192E-4
2-169842641-A-T p.Tyr354* stop_gained ABCB11 1 82460 1.21271E-5 41230 0 NA
2-169842648-C-T p.Gly352Glu missense ABCB11 3 82476 3.63742E-5 41238 0 1.59327E-4
2-169842664-G-A p.Leu347Phe missense ABCB11 1 82546 1.21145E-5 41273 0 1.68779E-5
2-169842674-G-A p.Tyr343Tyr synonymous ABCB11 2 82550 2.42277E-5 41275 0 2.81794E-5
2-169842683-G-A p.Ala340Ala synonymous ABCB11 1 82556 1.2113E-5 41278 0 8.33736E-6
2-169842691-C-A p.Ala338Ser missense ABCB11 1 82550 1.21139E-5 41275 0 1.66442E-5
2-169842700-A-C p.Leu335Val missense ABCB11 2 82550 2.42277E-5 41275 0 NA
2-169842718-C-T p.Val329Met missense ABCB11 1 82540 1.21153E-5 41270 0 4.01894E-6
2-169842719-G-A p.Phe328Phe synonymous ABCB11 1 82532 1.21165E-5 41266 0 1.20577E-5
2-169842723-C-T p.Gly327Glu missense ABCB11 2 82516 2.42377E-5 41258 0 8.30124E-6
2-169842734-T-A p.Gly323Gly synonymous ABCB11 1 82494 1.21221E-5 41247 0 4.01849E-6
2-169842737-C-G p.Met322Ile missense ABCB11 1 82486 1.21233E-5 41243 0 NA
2-169842746-T-C p.Gly319Gly synonymous ABCB11 5054 82372 0.0613558 41186 520 0.101678
2-169842753-C-G p.Arg317Thr missense ABCB11 3 82412 3.64025E-5 41206 0 3.18573E-5
2-169842764-A-T p.Arg313Arg synonymous ABCB11 2 82278 2.43078E-5 41139 0 NA
2-169842765-C-T p.Arg313His missense ABCB11 6 82242 7.29554E-5 41121 0 1.65937E-5
2-169842766-G-A p.Arg313Cys missense ABCB11 2 82188 2.43345E-5 41094 0 1.65939E-5
2-169842767-C-A p.Gln312His missense ABCB11 11 82194 1.3383E-4 41097 0 0.00100705
2-169842772-C-T p.Ala311Thr missense ABCB11 2 82056 2.43736E-5 41028 0 3.62045E-5
2-169842773-G-A p.Phe310Phe synonymous ABCB11 14 82004 1.70723E-4 41002 0 0.00100705
2-169842787-T-C p.Lys306Glu missense ABCB11 2 81700 2.44798E-5 40850 0 2.48917E-5
2-169842794-C-A p.Arg303Ser missense+splice_region ABCB11 1 81532 1.22651E-5 40766 0 6.37064E-5
2-169842794-C-T p.Arg303Arg splice_region+synonymous ABCB11 1 81532 1.22651E-5 40766 0 NA
2-169847317-A-G p.Val301Ala missense ABCB11 1 82304 1.21501E-5 41152 0 2.48835E-5
2-169847322-TC-AA p.Arg299Ile missense ABCB11 10 82318 1.2148E-4 41159 0 NA
2-169847323-C-T p.Arg299Lys missense ABCB11 5 82316 6.07415E-5 41158 0 6.25E-4
2-169847328-C-T p.Glu297Glu synonymous ABCB11 1 82314 1.21486E-5 41157 0 1.60729E-5
2-169847329-T-C p.Glu297Gly missense ABCB11 11 82294 1.33667E-4 41147 0 3.06677E-4
2-169847357-T-C p.Met288Val missense ABCB11 2 82318 2.4296E-5 41159 0 3.3151E-5
2-169847368-A-G p.Val284Ala missense ABCB11 33 82292 4.01011E-4 41146 0 3.31576E-4
2-169847382-C-G p.Val279Val synonymous ABCB11 1 82198 1.21657E-5 41099 0 4.02091E-6
2-169847384-C-T p.Val279Met missense ABCB11 1 82194 1.21663E-5 41097 0 4.02091E-6
2-169847403-C-A p.Lys272Asn missense ABCB11 1 82040 1.21892E-5 41020 0 NA
2-169847409-C-T p.Glu270Glu synonymous ABCB11 2 81932 2.44105E-5 40966 0 6.25E-4
2-169847412-A-G p.Tyr269Tyr synonymous ABCB11 900 81896 0.0109895 40948 93 0.032663
2-169847418-C-T p.Thr267Thr synonymous ABCB11 1 81844 1.22184E-5 40922 0 3.18654E-5
2-169847422-A-C p.Phe266Cys missense ABCB11 1 81794 1.22258E-5 40897 0 NA
2-169847430-C-G p.Val263Val synonymous ABCB11 1 81650 1.22474E-5 40825 0 NA
2-169847439-A-G c.784-4T>C splice_region ABCB11 1 81458 1.22763E-5 40729 0 NA
2-169850228-A-G p.Ile259Thr missense ABCB11 1 81090 1.2332E-5 40545 0 NA
2-169850230-G-T p.Thr258Thr synonymous ABCB11 1 81098 1.23308E-5 40549 0 4.13281E-6
2-169850230-G-A p.Thr258Thr synonymous ABCB11 1 81098 1.23308E-5 40549 0 3.18796E-5
2-169850249-A-G p.Ile252Thr missense ABCB11 2 81342 2.45875E-5 40671 0 1.05724E-5
2-169850256-G-A p.Pro250Ser missense ABCB11 2 81440 2.4558E-5 40720 0 NA
2-169850274-C-A p.Val244Phe missense ABCB11 2 81790 2.44529E-5 40895 0 NA
2-169850281-C-T p.Leu241Leu synonymous ABCB11 1 81890 1.22115E-5 40945 0 1.00212E-5
2-169850293-C-T p.Arg237Arg synonymous ABCB11 2 82036 2.43795E-5 41018 0 3.18695E-5
2-169850297-A-G p.Phe236Ser missense ABCB11 1 82098 1.21806E-5 41049 0 4.06712E-6
2-169850307-A-G p.Leu233Leu synonymous ABCB11 1 82162 1.21711E-5 41081 0 1.92123E-5
2-169850308-C-A p.Leu232Leu synonymous ABCB11 4 82172 4.86784E-5 41086 0 3.18573E-5
2-169850308-C-T p.Leu232Leu synonymous ABCB11 1 82172 1.21696E-5 41086 0 NA
2-169850312-A-G p.Phe231Ser missense ABCB11 1 82190 1.21669E-5 41095 0 1.21586E-5
2-169850327-G-A p.Ser226Leu missense ABCB11 1 82172 1.21696E-5 41086 0 4.05268E-6
2-169850329-G-C p.Thr225Thr synonymous ABCB11 1 82160 1.21714E-5 41080 0 1.6211E-5
2-169850336-C-T p.Arg223His missense ABCB11 4 82138 4.86985E-5 41069 0 1.43168E-4
2-169850337-G-A p.Arg223Cys missense ABCB11 1 82132 1.21755E-5 41066 0 8.51886E-5
2-169850352-C-A p.Ala218Ser missense ABCB11 1 82090 1.21818E-5 41045 0 4.05986E-6
2-169850384-T-C p.Asn207Ser missense ABCB11 1 81646 1.2248E-5 40823 0 6.37024E-5
2-169850388-T-C p.Ile206Val missense ABCB11 88 81568 0.00107885 40784 0 0.00302419
2-169851851-C-G c.611+8G>C splice_region ABCB11 1 81862 1.22157E-5 40931 0 NA
2-169851854-C-T c.611+5G>A splice_region ABCB11 1 81896 1.22106E-5 40948 0 NA
2-169851858-C-T c.611+1G>A splice_donor ABCB11 1 81910 1.22085E-5 40955 0 2.49696E-5
2-169851879-C-A p.Glu197Asp missense ABCB11 1 81998 1.21954E-5 40999 0 NA
2-169851885-C-G p.Val195Val synonymous ABCB11 2 82024 2.43831E-5 41012 0 1.59368E-4
2-169851885-C-T p.Val195Val synonymous ABCB11 2 82024 2.43831E-5 41012 0 3.18735E-5
2-169851887-C-T p.Val195Met missense ABCB11 2 82012 2.43867E-5 41006 0 1.61025E-5
2-169851899-C-G p.Asp191His missense ABCB11 1 82018 1.21924E-5 41009 0 NA
2-169851918-T-C p.Arg184Arg synonymous ABCB11 3 82040 3.65675E-5 41020 0 2.41723E-5
2-169851950-T-A p.Met174Leu missense ABCB11 2 81964 2.4401E-5 40982 0 4.03356E-6
2-169851954-C-T p.Gln172Gln synonymous ABCB11 3 81944 3.66104E-5 40972 0 1.59388E-4
2-169851964-C-T p.Arg169His missense ABCB11 7 81874 8.54972E-5 40937 0 9.56328E-5
2-169851976-A-G p.Ile165Thr missense ABCB11 1 81814 1.22228E-5 40907 0 NA
2-169851987-G-C p.Cys161Trp missense ABCB11 1 81732 1.22351E-5 40866 0 4.0829E-6
2-169851989-A-G p.Cys161Arg missense ABCB11 3 81674 3.67314E-5 40837 0 NA
2-169851992-T-C p.Ile160Val missense+splice_region ABCB11 9 81608 1.10283E-4 40804 0 6.37227E-5
2-169851996-G-A c.478-4C>T splice_region ABCB11 2 81586 2.4514E-5 40793 0 NA
2-169853137-C-A c.477+8G>T splice_region ABCB11 2 78608 2.54427E-5 39304 0 1.58398E-4
2-169853145-T-C p.Gln159Gln splice_region+synonymous ABCB11 13 79190 1.64162E-4 39595 0 0.0020141
2-169853148-A-AAT p.Gln159fs frameshift ABCB11 1 79370 1.25992E-5 39685 0 NA
2-169853171-C-A p.Ala151Ser missense ABCB11 1 80554 1.2414E-5 40277 0 NA
2-169853172-G-A p.Val150Val synonymous ABCB11 4 80634 4.96069E-5 40317 0 3.1957E-5
2-169853191-T-A p.Tyr144Phe missense ABCB11 1 80938 1.23551E-5 40469 0 NA
2-169853194-C-T p.Ser143Asn missense ABCB11 5 80978 6.17452E-5 40489 0 6.35405E-5
2-169853207-T-C p.Ile139Val missense ABCB11 1 81130 1.23259E-5 40565 0 6.39509E-5
2-169853214-G-A p.Ser136Ser synonymous ABCB11 57 80982 7.0386E-4 40491 0 0.00251762
2-169853218-T-G p.Glu135Ala missense ABCB11 1 81080 1.23335E-5 40540 0 5.04627E-6
2-169853219-C-T p.Glu135Lys missense ABCB11 2 80960 2.47036E-5 40480 0 3.07044E-5
2-169853219-C-G p.Glu135Gln missense ABCB11 1 80960 1.23518E-5 40480 0 5.11739E-6
2-169853220-G-A p.Ile134Ile synonymous ABCB11 1874 80968 0.0231449 40484 129 0.0485468
2-169853223-G-A p.Asn133Asn synonymous ABCB11 4 81050 4.93523E-5 40525 0 0.00100908
2-169853232-C-A p.Gly130Gly splice_region+synonymous ABCB11 1 80830 1.23716E-5 40415 0 NA
2-169869774-C-T c.389+8G>A splice_region ABCB11 1771 81834 0.0216414 40917 25 0.023125
2-169869774-CAA-TAG c.389+6_389+8delTTGinsCTA splice_region ABCB11 2 81966 2.44004E-5 40983 0 NA
2-169869778-C-T c.389+4G>A splice_region ABCB11 7 82050 8.53138E-5 41025 0 6.38021E-5
2-169869788-C-T p.Arg128His missense ABCB11 29 82218 3.52721E-4 41109 0 5.04032E-4
2-169869789-G-A p.Arg128Cys missense ABCB11 2 82220 2.4325E-5 41110 0 4.06088E-6
2-169869803-A-G p.Met123Thr missense ABCB11 4 82286 4.86109E-5 41143 0 3.31791E-5
2-169869806-T-A p.Asn122Ile missense ABCB11 1 82288 1.21524E-5 41144 0 NA
2-169869810-G-T p.Gln121Lys missense ABCB11 1 82304 1.21501E-5 41152 0 6.36943E-5
2-169869813-T-G p.Asn120His missense ABCB11 2 82308 2.4299E-5 41154 0 6.36943E-5
2-169869856-T-G p.Lys105Asn missense ABCB11 2 82320 2.42954E-5 41160 0 NA
2-169869888-C-T p.Val95Ile missense ABCB11 3 82198 3.64972E-5 41099 0 9.64491E-5
2-169869889-G-A p.Asp94Asp synonymous ABCB11 3 82196 3.64981E-5 41098 0 4.97265E-5
2-169869891-C-T p.Asp94Asn missense ABCB11 1 82194 1.21663E-5 41097 0 1.00467E-4
2-169869892-G-A p.Tyr93Tyr synonymous ABCB11 5 82200 6.08272E-5 41100 0 1.24316E-4
2-169869901-A-G p.Phe90Phe synonymous ABCB11 3239 82170 0.0394183 41085 64 0.0536761
2-169869919-G-A p.Gly84Gly synonymous ABCB11 2 82116 2.43558E-5 41058 0 4.01916E-6
2-169869930-G-A p.Leu81Phe missense ABCB11 3 82104 3.6539E-5 41052 0 0.00100705
2-169869935-A-T p.Val79Glu missense ABCB11 1 82090 1.21818E-5 41045 0 NA
2-169869936-C-T p.Val79Met missense ABCB11 4 82078 4.87341E-5 41039 0 5.03525E-4
2-169869937-G-A p.Gly78Gly synonymous ABCB11 3 82070 3.65542E-5 41035 0 1.65761E-5
2-169869943-C-T p.Gln76Gln synonymous ABCB11 1 82072 1.21844E-5 41036 0 NA
2-169869965-G-A p.Ala69Val missense ABCB11 1 82130 1.21758E-5 41065 0 NA
2-169869975-T-C p.Ser66Gly missense ABCB11 2 82188 2.43345E-5 41094 0 NA
2-169869997-G-A p.Asp58Asp synonymous ABCB11 31 82292 3.76707E-4 41146 0 7.6477E-4
2-169870004-G-A p.Ser56Leu missense ABCB11 39 82300 4.73876E-4 41150 0 6.48735E-4
2-169870005-A-G p.Ser56Pro missense ABCB11 1 82298 1.2151E-5 41149 0 6.36902E-5
2-169870015-C-T p.Arg52Arg synonymous ABCB11 78 82296 9.47798E-4 41148 0 0.00151057
2-169870016-C-T p.Arg52Gln missense ABCB11 14 82290 1.7013E-4 41145 0 5.23628E-5
2-169870017-G-A p.Arg52Trp missense ABCB11 1 82290 1.21521E-5 41145 0 3.35205E-5
2-169870023-T-C c.151-3A>G splice_region ABCB11 1 82288 1.21524E-5 41144 0 NA
2-169870817-T-G p.Gln49Pro missense ABCB11 1 82314 1.21486E-5 41157 0 NA
2-169870826-C-T p.Gly46Asp missense ABCB11 1 82300 1.21507E-5 41150 0 4.01542E-6
2-169870830-C-T p.Val45Ile missense ABCB11 1 82304 1.21501E-5 41152 0 8.28391E-6
2-169870833-T-G p.Arg44Arg synonymous ABCB11 1 82300 1.21507E-5 41150 0 3.18552E-5
2-169870836-C-T p.Val43Ile missense ABCB11 165 82270 0.00200559 41135 0 0.00197465
2-169870837-G-A p.Gly42Gly synonymous ABCB11 4 82280 4.86145E-5 41140 0 4.82028E-5
2-169870844-C-T p.Gly40Asp missense ABCB11 1 82278 1.21539E-5 41139 0 3.18573E-5
2-169870855-A-G p.Asp36Asp synonymous ABCB11 899 82240 0.0109314 41120 97 0.0321988
2-169870866-TG-T c.99-3delC splice_region ABCB11 1 82192 1.21666E-5 41096 0 NA
2-169870870-G-A c.99-6C>T splice_region ABCB11 1 82172 1.21696E-5 41086 0 3.18715E-5
2-169873288-C-T p.Arg33Lys missense+splice_region ABCB11 1 81754 1.22318E-5 40877 0 NA
2-169873298-TATC-T p.Asp29del conservative_inframe_deletion ABCB11 4 81722 4.89464E-5 40861 0 2.77374E-4
2-169873301-CATT-C p.Asn28del conservative_inframe_deletion ABCB11 1 81712 1.22381E-5 40856 0 1.32457E-5
2-169873316-G-GA c.77-8_77-7insT splice_region ABCB11 4 81542 4.90545E-5 40771 0 0.00157529
2-169873316-GA-G c.77-8delT splice_region ABCB11 6 81584 7.35438E-5 40792 0 3.70656E-4
2-169874552-C-T c.76+8G>A splice_region ABCB11 1 82276 1.21542E-5 41138 0 NA
2-169874557-C-T c.76+3G>A splice_region ABCB11 4 82334 4.85826E-5 41167 0 6.36821E-5
2-169874560-A-T p.Tyr26Asn missense+splice_region ABCB11 2 82364 2.42825E-5 41182 0 1.65821E-5
2-169874566-T-C p.Lys24Glu missense ABCB11 1 82398 1.21362E-5 41199 0 6.3678E-5
2-169874575-C-T p.Glu21Lys missense ABCB11 4 82444 4.85178E-5 41222 0 0.00125
2-169874588-C-T p.Glu16Glu synonymous ABCB11 5 82478 6.06222E-5 41239 0 8.03058E-5
2-169874592-T-C p.Glu15Gly missense ABCB11 1 82458 1.21274E-5 41229 0 NA
2-169874593-C-T p.Glu15Lys missense ABCB11 2 82462 2.42536E-5 41231 0 NA
2-169874598-A-G p.Phe13Ser missense ABCB11 8 82452 9.70261E-5 41226 0 3.31647E-5
2-169874613-C-T p.Arg8Gln missense ABCB11 13 82450 1.57671E-4 41225 0 2.22973E-4
2-169874632-A-C p.Ser2Ala missense ABCB11 1 82428 1.21318E-5 41214 0 NA
2-169874664-T-TATAAA c.-27-3_-27-2insTTTAT splice_region ABCB11 2 81836 2.44391E-5 40918 0 NA
2-169887742-T-C c.-35A>G 5_prime_UTR_premature_start_codon_gain ABCB11 2 2944 6.79348E-4 1472 0 NA