Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-87031241-ACT-A p.Ser98fs frameshift ABCB4 23 71898 3.19898E-4 35949 0 0.00121904
7-87031260-C-T p.Arg92Gln missense ABCB4 1 74568 1.34106E-5 37284 0 3.1835E-5
7-87031261-G-A p.Arg92Trp missense ABCB4 3 74962 4.00203E-5 37481 0 3.47217E-5
7-87031272-C-A p.Trp88Leu missense ABCB4 2 76906 2.60058E-5 38453 0 6.81905E-6
7-87031276-T-C p.Ile87Val missense ABCB4 3 77428 3.87457E-5 38714 0 NA
7-87031276-T-A p.Ile87Phe missense ABCB4 2 77428 2.58304E-5 38714 0 1.81642E-4
7-87031278-G-A p.Pro86Leu missense ABCB4 1 77742 1.28631E-5 38871 0 NA
7-87031292-G-C p.Ile81Met missense+splice_region ABCB4 9 79062 1.13835E-4 39531 0 3.50408E-4
7-87031414-A-G p.Ter1287Argext*? stop_lost ABCB4 2 83130 2.40587E-5 41565 0 NA
7-87031418-G-C p.Asn1285Lys missense ABCB4 1 83164 1.20244E-5 41582 0 0.00100705
7-87031420-T-A p.Asn1285Tyr missense ABCB4 2 83168 2.40477E-5 41584 0 1.1936E-5
7-87031436-G-A p.Val1279Val synonymous ABCB4 1 83216 1.20169E-5 41608 0 NA
7-87031440-C-CT p.Ser1278fs frameshift ABCB4 4 83214 4.80688E-5 41607 0 NA
7-87031441-T-G p.Ser1278Arg missense ABCB4 1 83220 1.20163E-5 41610 0 8.23927E-6
7-87031444-C-A c.240+1G>T splice_donor ABCB4 2 83230 2.40298E-5 41615 0 6.25E-4
7-87031444-C-T c.240+1G>A splice_donor ABCB4 3 83230 3.60447E-5 41615 0 3.18451E-5
7-87031451-A-G n.413T>C splice_region ABCB4 1 83238 1.20137E-5 41619 0 NA
7-87031485-T-C p.His1263Arg missense ABCB4 1 83184 1.20215E-5 41592 0 3.1835E-5
7-87031487-C-T p.Thr1262Thr synonymous ABCB4 1 83172 1.20233E-5 41586 0 NA
7-87031488-G-A p.Thr1262Met missense ABCB4 1 83168 1.20239E-5 41584 0 1.27413E-4
7-87031492-C-T p.Gly1261Ser missense ABCB4 1 83154 1.20259E-5 41577 0 4.11896E-5
7-87031503-ACT-A p.Arg1256fs frameshift ABCB4 3 83042 3.61263E-5 41521 0 NA
7-87031508-C-T p.Gly1255Gly synonymous ABCB4 1 83008 1.2047E-5 41504 0 1.59147E-5
7-87031522-C-T p.Val1251Met missense ABCB4 1 82832 1.20726E-5 41416 0 NA
7-87031527-A-AT p.Ile1249fs frameshift ABCB4 1 82770 1.20817E-5 41385 0 NA
7-87031532-G-A p.Asp1247Asp synonymous ABCB4 3 82740 3.62582E-5 41370 0 NA
7-87031533-T-C p.Asp1247Gly missense ABCB4 1 82726 1.20881E-5 41363 0 NA
7-87031547-G-A p.Thr1242Thr synonymous ABCB4 1 82648 1.20995E-5 41324 0 1.91071E-4
7-87031550-G-A p.Ser1241Ser synonymous ABCB4 1 82630 1.21021E-5 41315 0 NA
7-87031557-C-T p.Arg1239His missense ABCB4 3 82540 3.6346E-5 41270 0 3.98102E-6
7-87031558-G-A p.Arg1239Cys missense ABCB4 1 82498 1.21215E-5 41249 0 4.12188E-5
7-87031573-T-G p.Ile1234Leu missense ABCB4 2 82446 2.42583E-5 41223 0 8.24837E-6
7-87031576-A-C p.Cys1233Gly missense ABCB4 1 82406 1.2135E-5 41203 0 2.78731E-5
7-87031581-C-T p.Arg1231His missense ABCB4 3 82332 3.64378E-5 41166 0 1.27445E-4
7-87031582-G-A p.Arg1231Cys missense ABCB4 4 82312 4.85956E-5 41156 0 3.30115E-5
7-87031588-C-T p.Glu1229Lys missense ABCB4 2 82262 2.43126E-5 41131 0 2.4768E-5
7-87031610-T-C p.Gln1221Gln synonymous ABCB4 1 82022 1.21919E-5 41011 0 2.4853E-5
7-87032451-C-T p.Lys1218Lys splice_region+synonymous ABCB4 1 83332 1.20002E-5 41666 0 NA
7-87032452-T-A p.Lys1218Met missense+splice_region ABCB4 2 83334 2.39998E-5 41667 0 NA
7-87032464-G-A p.Thr1214Ile missense ABCB4 1 83352 1.19973E-5 41676 0 NA
7-87032470-A-G p.Leu1212Pro missense ABCB4 1 83358 1.19964E-5 41679 0 NA
7-87032496-G-A p.Leu1203Leu synonymous ABCB4 1 83374 1.19941E-5 41687 0 3.18157E-5
7-87032519-G-C p.Leu1196Val missense ABCB4 2 83384 2.39854E-5 41692 0 1.64742E-5
7-87032524-C-T p.Arg1194Gln missense ABCB4 2 83376 2.39877E-5 41688 0 8.23737E-6
7-87032531-T-C p.Ile1192Val missense ABCB4 16 83380 1.91893E-4 41690 0 1.15331E-4
7-87032536-A-G p.Ile1190Thr missense ABCB4 1 83392 1.19916E-5 41696 0 NA
7-87032541-C-T p.Gln1188Gln synonymous ABCB4 9 83390 1.07927E-4 41695 0 2.5481E-4
7-87032559-G-A p.Leu1182Leu synonymous ABCB4 1 83380 1.19933E-5 41690 0 NA
7-87032563-T-A p.Gln1181Leu missense ABCB4 1 83372 1.19944E-5 41686 0 3.977E-6
7-87032575-TC-CT p.Asp1177Ser missense ABCB4 4 83342 4.7995E-5 41671 0 NA
7-87032590-T-C p.Glu1172Gly missense ABCB4 1 83282 1.20074E-5 41641 0 3.97801E-6
7-87032592-A-G p.Tyr1171Tyr synonymous ABCB4 3 83270 3.60274E-5 41635 0 9.58344E-5
7-87032596-T-TTGTGGGGTAACG p.Thr1166_His1169dup conservative_inframe_insertion ABCB4 1 83258 1.20109E-5 41629 0 NA
7-87035237-G-A n.793C>T splice_region ABCB4 6 7254 8.2713E-4 3627 0 6.36943E-4
7-87035604-G-A p.His1169His splice_region+synonymous ABCB4 1 82624 1.2103E-5 41312 0 2.47133E-5
7-87035609-G-A p.Pro1168Ser missense ABCB4 9 82622 1.0893E-4 41311 0 0.00151057
7-87035613-C-T p.Thr1166Thr synonymous ABCB4 7 82700 8.46433E-5 41350 0 1.64756E-4
7-87035614-G-A p.Thr1166Met missense ABCB4 4 82722 4.83547E-5 41361 0 1.4004E-4
7-87035619-G-A p.Ile1164Ile synonymous ABCB4 4 82818 4.82987E-5 41409 0 1.6475E-5
7-87035622-G-T p.Phe1163Leu missense ABCB4 1 82878 1.20659E-5 41439 0 NA
7-87035627-G-T p.Pro1162Thr missense ABCB4 1 82970 1.20525E-5 41485 0 8.2371E-6
7-87035635-T-G p.Asn1159Thr missense ABCB4 1 83100 1.20337E-5 41550 0 3.97776E-6
7-87035637-G-C p.Ala1158Ala synonymous ABCB4 1 83116 1.20314E-5 41558 0 NA
7-87035639-C-T p.Ala1158Thr missense ABCB4 2 83114 2.40633E-5 41557 0 6.37186E-5
7-87035659-A-G p.Ile1151Thr missense ABCB4 1 83250 1.2012E-5 41625 0 2.38654E-5
7-87035660-T-G p.Ile1151Leu missense ABCB4 1 83250 1.2012E-5 41625 0 NA
7-87035661-T-C p.Glu1150Glu synonymous ABCB4 1 83256 1.20111E-5 41628 0 3.9775E-6
7-87035675-C-A p.Val1146Leu missense ABCB4 1 83256 1.20111E-5 41628 0 3.18654E-5
7-87035677-A-G p.Val1145Ala missense ABCB4 4 83254 4.80457E-5 41627 0 3.18695E-5
7-87035679-C-A p.Arg1144Arg synonymous ABCB4 2 83256 2.40223E-5 41628 0 NA
7-87035680-C-T p.Arg1144Gln missense ABCB4 1 83260 1.20106E-5 41630 0 3.29478E-5
7-87035686-T-C p.Asn1142Ser missense ABCB4 1 83268 1.20094E-5 41634 0 NA
7-87035688-G-A p.Asp1141Asp synonymous ABCB4 38 83256 4.56424E-4 41628 0 5.41436E-4
7-87035709-G-A p.Ala1134Ala synonymous ABCB4 3 83258 3.60326E-5 41629 0 1.64742E-5
7-87035716-C-T p.Ser1132Asn missense ABCB4 1 83264 1.201E-5 41632 0 8.23737E-6
7-87035718-G-A p.Cys1131Cys synonymous ABCB4 2 83258 2.40217E-5 41629 0 3.18573E-5
7-87035719-C-T p.Cys1131Tyr missense ABCB4 1 83268 1.20094E-5 41634 0 NA
7-87035723-C-T p.Asp1130Asn missense ABCB4 2 83248 2.40246E-5 41624 0 6.25E-4
7-87035726-A-G p.Phe1129Leu missense ABCB4 1 83250 1.2012E-5 41625 0 NA
7-87035747-C-T p.Val1122Met missense ABCB4 7 83242 8.40922E-5 41621 0 9.55414E-5
7-87035748-G-A p.Ile1121Ile synonymous ABCB4 1 83244 1.20129E-5 41622 0 NA
7-87035753-C-T p.Gly1120Arg missense ABCB4 3 83238 3.60412E-5 41619 0 NA
7-87035754-G-A p.Leu1119Leu synonymous ABCB4 7 83230 8.41043E-5 41615 0 9.0623E-5
7-87035775-G-A p.Val1112Val synonymous ABCB4 1 83186 1.20213E-5 41593 0 8.23981E-6
7-87035791-G-A p.Ala1107Val missense ABCB4 1 83094 1.20346E-5 41547 0 2.38863E-5
7-87035792-C-T p.Ala1107Thr missense ABCB4 15 83088 1.80531E-4 41544 0 2.55135E-4
7-87035794-T-C p.Glu1106Gly missense ABCB4 74 83070 8.90815E-4 41535 0 6.38284E-4
7-87035804-C-T p.Asp1103Asn missense ABCB4 1 83006 1.20473E-5 41503 0 1.99102E-5
7-87035805-G-A p.Leu1102Leu synonymous ABCB4 10 83006 1.20473E-4 41503 0 6.76989E-5
7-87035819-C-T p.Gly1098Ser missense ABCB4 1 82854 1.20694E-5 41427 0 7.97143E-6
7-87035827-A-G p.Val1095Ala missense ABCB4 1 82688 1.20937E-5 41344 0 NA
7-87035833-T-C c.3280-2A>G splice_acceptor ABCB4 2 82472 2.42507E-5 41236 0 1.71283E-5
7-87037346-T-G c.3279+7A>C splice_region ABCB4 1 81882 1.22127E-5 40941 0 8.38097E-6
7-87037381-C-T p.Arg1084Gln missense ABCB4 12 82692 1.45117E-4 41346 0 2.5481E-4
7-87037388-G-A p.Leu1082Leu synonymous ABCB4 1 82724 1.20884E-5 41362 0 NA
7-87037401-C-T p.Thr1077Thr synonymous ABCB4 7 82758 8.4584E-5 41379 0 5.17602E-5
7-87037402-G-A p.Thr1077Met missense ABCB4 1 82766 1.20823E-5 41383 0 1.99067E-5
7-87037410-C-T p.Gly1074Gly synonymous ABCB4 1 82836 1.2072E-5 41418 0 NA
7-87037425-G-C p.Gly1069Gly synonymous ABCB4 1 82834 1.20723E-5 41417 0 NA
7-87037425-G-A p.Gly1069Gly synonymous ABCB4 2 82834 2.41447E-5 41417 0 3.30006E-5
7-87037426-C-A p.Gly1069Val missense ABCB4 1 82828 1.20732E-5 41414 0 NA
7-87037446-G-A p.Gly1062Gly synonymous ABCB4 1 82822 1.20741E-5 41411 0 3.9821E-6
7-87037450-T-C p.Lys1061Arg missense ABCB4 1 82832 1.20726E-5 41416 0 NA
7-87037456-A-G p.Val1059Ala missense ABCB4 1 82834 1.20723E-5 41417 0 3.18573E-5
7-87037458-C-T p.Glu1058Glu synonymous ABCB4 2 82830 2.41458E-5 41415 0 6.59848E-5
7-87037460-C-T p.Glu1058Lys missense ABCB4 21 82828 2.53537E-4 41414 0 3.82068E-4
7-87037487-C-T p.Val1049Met missense ABCB4 1 82770 1.20817E-5 41385 0 1.65139E-5
7-87037488-G-A p.Asn1048Asn synonymous ABCB4 1 82764 1.20825E-5 41382 0 5.03525E-4
7-87037499-T-C p.Thr1045Ala missense ABCB4 1 82724 1.20884E-5 41362 0 NA
7-87037501-G-A p.Pro1044Leu missense ABCB4 1 82714 1.20899E-5 41357 0 3.30715E-5
7-87037502-G-A p.Pro1044Ser missense ABCB4 3 82702 3.62748E-5 41351 0 1.65377E-5
7-87037502-G-T p.Pro1044Thr missense ABCB4 1 82702 1.20916E-5 41351 0 3.1841E-5
7-87037515-G-A p.Val1039Val synonymous ABCB4 2 82584 2.42178E-5 41292 0 9.55414E-5
7-87037516-A-AC p.Val1039fs frameshift ABCB4 1 82562 1.21121E-5 41281 0 NA
7-87037516-A-G p.Val1039Ala missense ABCB4 1 82562 1.21121E-5 41281 0 3.1839E-5
7-87037517-C-T p.Val1039Ile missense ABCB4 2 82570 2.42219E-5 41285 0 3.18471E-5
7-87037521-A-G p.Asn1037Asn synonymous ABCB4 5 82546 6.05723E-5 41273 0 9.97539E-5
7-87037522-T-C p.Asn1037Ser missense ABCB4 1 82516 1.21189E-5 41258 0 8.31297E-6
7-87037542-A-G p.Phe1030Phe synonymous ABCB4 7 82044 8.53201E-5 41022 0 1.91046E-4
7-87038557-T-C p.Lys1026Glu missense ABCB4 1 82780 1.20802E-5 41390 0 NA
7-87038562-C-T p.Gly1024Glu missense ABCB4 1 82816 1.2075E-5 41408 0 NA
7-87038570-A-G p.Ser1021Ser synonymous ABCB4 2 82858 2.41377E-5 41429 0 NA
7-87038592-T-G p.Gln1014Pro missense ABCB4 1 82916 1.20604E-5 41458 0 NA
7-87038596-T-G p.Arg1013Arg synonymous ABCB4 123 82928 0.00148321 41464 0 0.00139701
7-87038599-C-T p.Glu1012Lys missense ABCB4 1 82940 1.20569E-5 41470 0 NA
7-87038600-A-G p.Phe1011Phe synonymous ABCB4 1 82932 1.20581E-5 41466 0 1.19404E-5
7-87038602-A-T p.Phe1011Ile missense ABCB4 1 82922 1.20595E-5 41461 0 8.23845E-6
7-87038614-A-G p.Leu1007Leu synonymous ABCB4 1 82918 1.20601E-5 41459 0 NA
7-87038620-C-T p.Ala1005Thr missense ABCB4 4 82914 4.82428E-5 41457 0 9.55475E-5
7-87038633-A-G p.Ala1000Ala synonymous ABCB4 2 82950 2.41109E-5 41475 0 5.03525E-4
7-87038634-G-A p.Ala1000Val missense ABCB4 3 82936 3.61725E-5 41468 0 NA
7-87038635-C-T p.Ala1000Thr missense ABCB4 1 82946 1.2056E-5 41473 0 NA
7-87038639-A-G p.Ala998Ala synonymous ABCB4 2 82948 2.41115E-5 41474 0 1.15354E-4
7-87038679-A-G p.Val985Ala missense ABCB4 4 82938 4.82288E-5 41469 0 NA
7-87038681-T-C p.Ala984Ala synonymous ABCB4 145 82934 0.00174838 41467 1 0.00254728
7-87038683-C-T p.Ala984Thr missense ABCB4 1 82922 1.20595E-5 41461 0 NA
7-87038686-C-T p.Gly983Ser missense ABCB4 1 82934 1.20578E-5 41467 0 8.24498E-6
7-87038694-A-G p.Ile980Thr missense ABCB4 2 82900 2.41255E-5 41450 0 1.19428E-5
7-87038711-A-C c.2925-3T>G splice_region ABCB4 1 82770 1.20817E-5 41385 0 NA
7-87038712-G-C c.2925-4C>G splice_region ABCB4 2 82756 2.41674E-5 41378 0 1.19521E-5
7-87038713-A-G c.2925-5T>C splice_region ABCB4 1 82746 1.20852E-5 41373 0 NA
7-87038716-G-A c.2925-8C>T splice_region ABCB4 8 82714 9.67188E-5 41357 0 2.06851E-4
7-87041228-G-A p.Arg969Cys missense ABCB4 4 82996 4.81951E-5 41498 0 9.55231E-5
7-87041232-A-G p.His967His synonymous ABCB4 1 83032 1.20435E-5 41516 0 NA
7-87041263-C-A p.Arg957Leu missense ABCB4 2 83108 2.40651E-5 41554 0 NA
7-87041264-G-A p.Arg957* stop_gained ABCB4 1 83112 1.2032E-5 41556 0 NA
7-87041273-C-T p.Gly954Ser missense ABCB4 1 83116 1.20314E-5 41558 0 8.28007E-6
7-87041289-C-G p.Met948Ile missense ABCB4 1 83098 1.2034E-5 41549 0 8.27075E-6
7-87041290-A-G p.Met948Thr missense ABCB4 3 83100 3.61011E-5 41550 0 6.3674E-5
7-87041301-T-A p.Ser944Ser synonymous ABCB4 1 83076 1.20372E-5 41538 0 NA
7-87041305-A-G p.Ile943Thr missense ABCB4 2 83058 2.40796E-5 41529 0 3.18309E-5
7-87041316-A-G p.Ile939Ile synonymous ABCB4 1 83028 1.20441E-5 41514 0 3.98302E-6
7-87041322-A-G p.Tyr937Tyr synonymous ABCB4 1 82974 1.2052E-5 41487 0 2.38987E-5
7-87041324-A-C p.Tyr937Asp missense ABCB4 1 82946 1.2056E-5 41473 0 8.27157E-6
7-87041328-G-A p.His935His synonymous ABCB4 2 82918 2.41202E-5 41459 0 NA
7-87041330-G-A p.His935Tyr missense ABCB4 2 82884 2.41301E-5 41442 0 3.98384E-6
7-87041333-C-T p.Ala934Thr missense ABCB4 168 82856 0.00202761 41428 3 0.0033431
7-87042924-GTTCA-G c.2783+5_2783+8delTGAA splice_region ABCB4 1 82296 1.21513E-5 41148 0 NA
7-87042932-C-A c.2783+1G>T splice_donor ABCB4 1 82482 1.21239E-5 41241 0 NA
7-87042937-A-C p.Tyr927Asp missense ABCB4 1 82586 1.21086E-5 41293 0 NA
7-87042956-A-G p.Val920Val synonymous ABCB4 1 82788 1.2079E-5 41394 0 NA
7-87042958-C-G p.Val920Leu missense ABCB4 1 82808 1.20761E-5 41404 0 NA
7-87042995-C-T p.Val907Val synonymous ABCB4 6 82808 7.24568E-5 41404 0 8.24579E-6
7-87043013-T-A p.Glu901Asp missense ABCB4 1 82684 1.20942E-5 41342 0 8.24851E-6
7-87043017-A-G p.Ile900Thr missense ABCB4 1 82594 1.21074E-5 41297 0 NA
7-87043018-T-A p.Ile900Leu missense ABCB4 1 82584 1.21089E-5 41292 0 NA
7-87046648-C-CT p.Glu888fs frameshift ABCB4 2 83210 2.40356E-5 41605 0 NA
7-87046691-A-C p.Val873Val synonymous ABCB4 1 83128 1.20296E-5 41564 0 3.1839E-5
7-87046729-A-C p.Leu861Val missense ABCB4 4 83006 4.81893E-5 41503 0 5.04032E-4
7-87046745-C-G p.Gln855His missense ABCB4 1 82996 1.20488E-5 41498 0 NA
7-87046746-T-TGTTGTTTTTA p.Gln855fs frameshift ABCB4 1 82998 1.20485E-5 41499 0 NA
7-87046754-G-A p.Tyr852Tyr synonymous ABCB4 2 83014 2.40923E-5 41507 0 6.37024E-5
7-87046755-T-C p.Tyr852Cys missense ABCB4 3 83022 3.6135E-5 41511 0 3.18481E-5
7-87046775-A-G p.Gly845Gly synonymous ABCB4 4 83074 4.81498E-5 41537 0 1.91034E-4
7-87046806-A-G p.Ile835Thr missense ABCB4 1 83014 1.20462E-5 41507 0 3.98178E-6
7-87046816-AC-A p.Arg831fs frameshift ABCB4 1 82940 1.20569E-5 41470 0 3.1839E-5
7-87046820-G-T p.Thr830Thr synonymous ABCB4 2 82924 2.41185E-5 41462 0 3.98397E-6
7-87047845-C-G c.2478+8G>C splice_region ABCB4 1 83076 1.20372E-5 41538 0 NA
7-87047846-T-C c.2478+7A>G splice_region ABCB4 2 83086 2.40714E-5 41543 0 3.18451E-5
7-87047846-T-A c.2478+7A>T splice_region ABCB4 2 83086 2.40714E-5 41543 0 NA
7-87047854-C-T p.Gly826Glu missense+splice_region ABCB4 1 83110 1.20322E-5 41555 0 8.25764E-6
7-87047856-T-C p.Gln825Gln synonymous ABCB4 1 83120 1.20308E-5 41560 0 NA
7-87047885-T-C p.Arg816Gly missense ABCB4 3 83188 3.60629E-5 41594 0 1.65025E-5
7-87047895-T-C p.Ala812Ala synonymous ABCB4 1 83202 1.20189E-5 41601 0 NA
7-87047897-C-T p.Ala812Thr missense ABCB4 1 83216 1.20169E-5 41608 0 5.03525E-4
7-87047906-T-C p.Ser809Gly missense ABCB4 1 83226 1.20155E-5 41613 0 NA
7-87047910-T-G p.Lys807Asn missense ABCB4 1 83230 1.20149E-5 41615 0 NA
7-87047913-A-G p.His806His synonymous ABCB4 1 83228 1.20152E-5 41614 0 NA
7-87047919-A-G p.Asp804Asp synonymous ABCB4 1 83232 1.20146E-5 41616 0 NA
7-87047928-G-A p.Ser801Ser synonymous ABCB4 1 83192 1.20204E-5 41596 0 3.9801E-6
7-87047930-T-A p.Ser801Cys missense ABCB4 3 83188 3.60629E-5 41594 0 3.1841E-5
7-87047934-G-C p.Asp799Glu missense+splice_region ABCB4 1 83172 1.20233E-5 41586 0 3.98092E-6
7-87047939-A-G c.2395-3T>C splice_region ABCB4 9 83174 1.08207E-4 41587 0 2.86642E-4
7-87049313-C-T c.2394+1G>A splice_donor ABCB4 2 82846 2.41412E-5 41423 0 NA
7-87049330-T-C p.Lys793Arg missense ABCB4 1 82950 1.20555E-5 41475 0 NA
7-87049342-G-T p.Ser789* stop_gained ABCB4 1 82976 1.20517E-5 41488 0 NA
7-87049343-A-T p.Ser789Thr missense ABCB4 1 82962 1.20537E-5 41481 0 NA
7-87049345-C-T p.Arg788Gln missense ABCB4 1005 82942 0.0121169 41471 27 0.0255021
7-87049345-C-A p.Arg788Leu missense ABCB4 2 82962 2.41074E-5 41481 0 7.96064E-6
7-87049346-G-A p.Arg788Trp missense ABCB4 1 82962 1.20537E-5 41481 0 3.98035E-6
7-87049367-CG-C p.Glu781fs frameshift ABCB4 1 82976 1.20517E-5 41488 0 NA
7-87049368-G-A p.Gly780Gly synonymous ABCB4 11 82976 1.32568E-4 41488 0 1.27462E-4
7-87049378-C-T p.Gly777Glu missense ABCB4 1 82992 1.20494E-5 41496 0 3.98029E-6
7-87049383-C-G p.Thr775Thr synonymous ABCB4 378 82952 0.00455685 41476 4 0.0100083
7-87049383-C-T p.Thr775Thr synonymous ABCB4 4 82966 4.82125E-5 41483 0 2.38825E-5
7-87049384-G-A p.Thr775Met missense ABCB4 43 82956 5.18347E-4 41478 0 7.01054E-4
7-87051438-T-C p.Gln772Arg missense+splice_region ABCB4 1 82898 1.2063E-5 41449 0 NA
7-87051447-A-T p.Phe769Tyr missense ABCB4 1 83042 1.20421E-5 41521 0 NA
7-87051451-T-C p.Thr768Ala missense ABCB4 1 83086 1.20357E-5 41543 0 NA
7-87051457-A-G p.Phe766Leu missense ABCB4 3 83156 3.60768E-5 41578 0 NA
7-87051463-T-G p.Ile764Leu missense ABCB4 3 83186 3.60638E-5 41593 0 NA
7-87051475-A-G p.Phe760Leu missense ABCB4 1 83236 1.2014E-5 41618 0 NA
7-87051498-T-A p.Asn752Ile missense ABCB4 1 83228 1.20152E-5 41614 0 1.7316E-5
7-87051509-C-T p.Gln748Gln synonymous ABCB4 2 83228 2.40304E-5 41614 0 7.97754E-6
7-87051526-C-T p.Asp743Asn missense ABCB4 4 83212 4.807E-5 41606 0 2.39563E-5
7-87051527-G-A p.Gly742Gly synonymous ABCB4 3 83188 3.60629E-5 41594 0 6.25E-4
7-87051539-A-G p.Ile738Ile splice_region+synonymous ABCB4 1 83144 1.20273E-5 41572 0 NA
7-87051541-T-C p.Ile738Val missense+splice_region ABCB4 4 83134 4.81151E-5 41567 0 8.01552E-6
7-87053221-C-T c.2211+1G>A splice_donor ABCB4 1 83072 1.20378E-5 41536 0 NA
7-87053222-C-T p.Ala737Ala splice_region+synonymous ABCB4 1 83078 1.20369E-5 41539 0 3.18532E-5
7-87053223-G-A p.Ala737Val missense+splice_region ABCB4 4 83080 4.81464E-5 41540 0 3.5822E-5
7-87053224-C-G p.Ala737Pro missense+splice_region ABCB4 1 83086 1.20357E-5 41543 0 NA
7-87053227-T-C p.Ile736Val missense ABCB4 2 83100 2.40674E-5 41550 0 NA
7-87053230-T-C p.Ile735Val missense ABCB4 1 83108 1.20325E-5 41554 0 NA
7-87053242-T-A p.Ile731Leu missense ABCB4 2 83098 2.4068E-5 41549 0 3.18471E-5
7-87053243-G-A p.Val730Val synonymous ABCB4 1 83098 1.2034E-5 41549 0 NA
7-87053255-C-T p.Pro726Pro synonymous ABCB4 1 83032 1.20435E-5 41516 0 6.58979E-5
7-87053256-G-A p.Pro726Leu missense ABCB4 2 83012 2.40929E-5 41506 0 1.64742E-5
7-87053263-G-GC p.Leu724fs frameshift ABCB4 1 82984 1.20505E-5 41492 0 8.23764E-6
7-87053264-C-T p.Gly723Gly synonymous ABCB4 1 82986 1.20502E-5 41493 0 NA
7-87053265-C-A p.Gly723Val missense ABCB4 1 82986 1.20502E-5 41493 0 3.18512E-5
7-87053268-C-G p.Gly722Ala missense ABCB4 3 82980 3.61533E-5 41490 1 1.59258E-5
7-87053289-G-A p.Thr715Ile missense ABCB4 59 82866 7.11993E-4 41433 0 5.89407E-4
7-87053296-C-T p.Val713Met missense ABCB4 7 82832 8.45084E-5 41416 0 1.91095E-4
7-87053297-G-A p.Val712Val synonymous ABCB4 1 82798 1.20776E-5 41399 0 9.55353E-5
7-87053298-A-G p.Val712Ala missense ABCB4 9 82792 1.08706E-4 41396 0 7.96667E-6
7-87053315-T-C p.Thr706Thr synonymous ABCB4 1 82604 1.2106E-5 41302 0 NA
7-87053331-A-G p.Leu701Pro missense ABCB4 1 82414 1.21339E-5 41207 0 3.98721E-6
7-87053350-C-A p.Val695Leu missense ABCB4 1 82126 1.21764E-5 41063 0 NA
7-87053351-T-C p.Pro694Pro synonymous ABCB4 3 82112 3.65355E-5 41056 0 NA
7-87053371-A-G c.2065-3T>C splice_region ABCB4 3 81436 3.68387E-5 40718 0 1.27348E-4
7-87053372-G-A c.2065-4C>T splice_region ABCB4 1 81394 1.22859E-5 40697 0 NA
7-87056066-A-G p.Leu688Leu splice_region+synonymous ABCB4 1 83070 1.2038E-5 41535 0 3.1839E-5
7-87056072-A-G p.Asp686Asp synonymous ABCB4 1 83110 1.20322E-5 41555 0 3.18707E-5
7-87056074-C-G p.Asp686His missense ABCB4 3 83098 3.6102E-5 41549 0 8.26815E-6
7-87056079-T-C p.Glu684Gly missense ABCB4 1 83132 1.20291E-5 41566 0 3.18451E-5
7-87056083-C-T p.Val683Met missense ABCB4 9 83142 1.08249E-4 41571 0 2.66845E-4
7-87056085-T-A p.Asp682Val missense ABCB4 2 83140 2.40558E-5 41570 0 NA
7-87056088-A-G p.Leu681Pro missense ABCB4 1 83148 1.20267E-5 41574 0 3.18451E-5
7-87056104-T-A p.Met676Leu missense ABCB4 2 83202 2.40379E-5 41601 0 3.18492E-5
7-87056104-T-C p.Met676Val missense ABCB4 3 83202 3.60568E-5 41601 1 NA
7-87056111-A-AT p.Asn673fs frameshift ABCB4 1 83196 1.20198E-5 41598 0 NA
7-87056130-G-A p.Thr667Ile missense ABCB4 2 83194 2.40402E-5 41597 0 6.25E-4
7-87056148-C-T p.Arg661His missense ABCB4 7 83180 8.41548E-5 41590 0 6.36943E-5
7-87056149-G-A p.Arg661Cys missense ABCB4 1 83184 1.20215E-5 41592 0 3.18471E-5
7-87056160-C-A p.Gly657Val missense ABCB4 3 83164 3.60733E-5 41582 0 1.65136E-5
7-87056161-C-T p.Gly657Ser missense ABCB4 1 83166 1.20241E-5 41583 0 NA
7-87056167-G-C p.Pro655Ala missense ABCB4 1 83142 1.20276E-5 41571 0 6.25E-4
7-87056176-T-C p.Arg652Gly missense ABCB4 9313 82938 0.112289 41469 743 0.152153
7-87056178-G-T p.Thr651Asn missense ABCB4 18 83094 2.16622E-4 41547 0 0.001875
7-87056178-G-C p.Thr651Ser missense ABCB4 1 83094 1.20346E-5 41547 0 2.78791E-5
7-87056191-C-T p.Glu647Lys missense ABCB4 1 83018 1.20456E-5 41509 0 7.97003E-6
7-87056192-A-G p.Asp646Asp synonymous ABCB4 66 83010 7.95085E-4 41505 1 0.006875
7-87056196-T-C p.Asn645Ser missense ABCB4 1 83002 1.20479E-5 41501 0 3.98524E-6
7-87056203-C-T p.Glu643Lys missense ABCB4 1 82888 1.20645E-5 41444 0 NA
7-87056212-C-G p.Glu640Gln missense ABCB4 1 82774 1.20811E-5 41387 0 NA
7-87056220-A-T p.Ile637Asn missense ABCB4 10 82602 1.21062E-4 41301 0 0.003125
7-87056234-T-A p.Thr632Thr splice_region+synonymous ABCB4 1 82278 1.21539E-5 41139 0 2.4929E-5
7-87060714-A-G c.1893+6T>C splice_region ABCB4 223 83232 0.00267926 41616 0 0.003125
7-87060716-G-A c.1893+4C>T splice_region ABCB4 1 83228 1.20152E-5 41614 0 NA
7-87060725-T-C p.Met630Val missense ABCB4 3 83280 3.60231E-5 41640 0 6.36943E-5
7-87060734-G-A p.Leu627Phe missense ABCB4 1 83292 1.2006E-5 41646 0 3.97817E-6
7-87060747-C-A p.Gly622Gly synonymous ABCB4 1 83302 1.20045E-5 41651 0 3.18512E-5
7-87060752-CCTT-C p.Lys620del conservative_inframe_deletion ABCB4 1 83304 1.20042E-5 41652 0 3.18451E-5
7-87060764-G-A p.Leu617Leu synonymous ABCB4 2 83292 2.40119E-5 41646 0 7.95722E-6
7-87060767-C-G p.Glu616Gln missense ABCB4 1 83304 1.20042E-5 41652 0 NA
7-87060768-G-A p.Ser615Ser synonymous ABCB4 4 83302 4.80181E-5 41651 0 1.19369E-5
7-87060792-T-G p.Val607Val synonymous ABCB4 10 83242 1.20132E-4 41621 2 3.2956E-4
7-87060808-C-G p.Gly602Ala missense ABCB4 1 83152 1.20262E-5 41576 0 NA
7-87060824-C-T p.Ala597Thr missense ABCB4 1 83066 1.20386E-5 41533 0 3.98115E-6
7-87060829-C-T p.Arg595Gln missense ABCB4 6 83018 7.22735E-5 41509 0 2.86661E-4
7-87060835-G-A p.Thr593Met missense ABCB4 1 82966 1.20531E-5 41483 0 9.55718E-5
7-87060836-T-C p.Thr593Ala missense ABCB4 1 82964 1.20534E-5 41482 0 NA
7-87060839-A-G p.Ser592Pro missense ABCB4 1 82956 1.20546E-5 41478 0 NA
7-87060844-C-T p.Arg590Gln missense ABCB4 534 82914 0.00644041 41457 2 0.00496879
7-87060846-G-A p.His589His synonymous ABCB4 1 82886 1.20648E-5 41443 0 1.6478E-5
7-87060851-C-T p.Ala588Thr missense ABCB4 1 82874 1.20665E-5 41437 0 3.18471E-5
7-87060868-C-T p.Arg582Gln missense ABCB4 1 82702 1.20916E-5 41351 0 8.24076E-6
7-87060874-T-C p.Glu580Gly missense ABCB4 1 82644 1.21001E-5 41322 0 3.98457E-6
7-87068998-C-T p.Gln572Gln synonymous ABCB4 1 83144 1.20273E-5 41572 0 NA
7-87068999-T-C p.Gln572Arg missense ABCB4 2 83150 2.40529E-5 41575 0 NA
7-87069008-GCTTCA-G p.Glu568fs frameshift ABCB4 1 83158 1.20253E-5 41579 0 NA
7-87069027-A-G p.Leu563Leu synonymous ABCB4 4 83162 4.80989E-5 41581 0 8.23682E-5
7-87069030-C-T p.Ala562Thr missense ABCB4 1 83154 1.20259E-5 41577 0 NA
7-87069035-G-A p.Thr560Met missense ABCB4 4 83154 4.81035E-5 41577 0 4.11848E-5
7-87069055-G-A p.Ile553Ile synonymous ABCB4 1 83164 1.20244E-5 41582 0 NA
7-87069068-C-T p.Arg549His missense ABCB4 7 83162 8.41731E-5 41581 0 4.94275E-5
7-87069069-G-A p.Arg549Cys missense ABCB4 2 83162 2.40494E-5 41581 0 NA
7-87069072-C-G p.Val548Leu missense ABCB4 3 83176 3.60681E-5 41588 0 8.23764E-6
7-87069080-C-T p.Arg545His missense ABCB4 1 83178 1.20224E-5 41589 0 NA
7-87069097-C-T p.Gln539Gln synonymous ABCB4 3 83242 3.60395E-5 41621 0 NA
7-87069105-G-A p.Gln537* stop_gained ABCB4 1 83224 1.20158E-5 41612 0 NA
7-87069111-C-T p.Gly535Ser missense ABCB4 7 83228 8.41063E-5 41614 0 6.36943E-5
7-87069122-G-A p.Ala531Val missense ABCB4 1 83208 1.20181E-5 41604 0 8.23764E-6
7-87069130-C-G p.Glu528Asp missense ABCB4 304 83200 0.00365385 41600 3 0.00805732
7-87069148-A-T p.Phe522Leu missense ABCB4 2 83136 2.4057E-5 41568 0 NA
7-87069151-T-C p.Lys521Lys splice_region+synonymous ABCB4 1 83128 1.20296E-5 41564 0 1.19393E-5
7-87069514-C-T c.1560+1G>A splice_donor ABCB4 1 81796 1.22255E-5 40898 0 NA
7-87069545-G-A p.Asn510Asn synonymous ABCB4 1 82180 1.21684E-5 41090 0 6.36983E-5
7-87069546-T-C p.Asn510Ser missense ABCB4 16 82180 1.94695E-4 41090 0 0.0020141
7-87069557-G-A p.Val506Val synonymous ABCB4 2 82312 2.42978E-5 41156 0 3.98007E-6
7-87069560-A-G p.Ala505Ala synonymous ABCB4 1 82368 1.21406E-5 41184 0 NA
7-87069576-T-C p.Asp500Gly missense ABCB4 3 82630 3.63064E-5 41315 0 8.24185E-6
7-87069594-C-T p.Arg494His missense ABCB4 3 82936 3.61725E-5 41468 0 5.03525E-4
7-87069632-C-T p.Leu481Leu synonymous ABCB4 1 83132 1.20291E-5 41566 0 3.9794E-6
7-87069633-A-G p.Leu481Pro missense ABCB4 1 83148 1.20267E-5 41574 0 NA
7-87069639-G-A p.Pro479Leu missense ABCB4 1 83104 1.20331E-5 41552 0 7.96039E-6
7-87069645-T-A p.Gln477Leu missense ABCB4 1 83124 1.20302E-5 41562 0 NA
7-87069649-T-C p.Ser476Gly missense ABCB4 3 83116 3.60941E-5 41558 0 3.97959E-6
7-87069655-C-G p.Val474Leu missense ABCB4 1 83128 1.20296E-5 41564 0 3.97959E-6
7-87069660-A-G p.Ile472Thr missense ABCB4 1 83138 1.20282E-5 41569 0 3.1839E-5
7-87069664-T-C p.Ile471Val missense ABCB4 1 83128 1.20296E-5 41564 0 NA
7-87069697-T-A p.Ile460Phe missense ABCB4 1 82756 1.20837E-5 41378 0 NA
7-87069698-A-G p.Asp459Asp synonymous ABCB4 2 82736 2.41733E-5 41368 0 2.48934E-5
7-87069710-A-G p.Ile455Ile synonymous ABCB4 1 82474 1.2125E-5 41237 0 8.36834E-6
7-87069716-A-G p.Ile453Ile splice_region+synonymous ABCB4 1 82300 1.21507E-5 41150 0 NA
7-87072629-A-G c.1356+6T>C splice_region ABCB4 1 83132 1.20291E-5 41566 0 NA
7-87072656-G-A p.Leu445Leu synonymous ABCB4 2 83224 2.40315E-5 41612 0 7.95722E-6
7-87072656-G-C p.Leu445Leu synonymous ABCB4 1 83224 1.20158E-5 41612 0 NA
7-87072677-C-T p.Thr438Thr synonymous ABCB4 303 83236 0.00364025 41618 0 0.00557502
7-87072678-G-A p.Thr438Met missense ABCB4 14 83242 1.68184E-4 41621 0 1.9118E-4
7-87072688-T-C p.Lys435Glu missense ABCB4 1 83244 1.20129E-5 41622 0 0.00704935
7-87072703-T-G p.Ser430Arg missense ABCB4 1 83264 1.201E-5 41632 0 8.23737E-6
7-87072706-C-T p.Gly429Arg missense ABCB4 1 83274 1.20085E-5 41637 0 NA
7-87072717-A-G p.Val425Ala missense ABCB4 1 83262 1.20103E-5 41631 0 NA
7-87072719-C-T p.Thr424Thr synonymous ABCB4 2 83256 2.40223E-5 41628 0 5.76739E-5
7-87072720-G-A p.Thr424Met missense ABCB4 4 83252 4.80469E-5 41626 0 1.59327E-4
7-87072721-T-C p.Thr424Ala missense ABCB4 1 83266 1.20097E-5 41633 0 3.18451E-5
7-87072724-G-T p.Gln423Lys missense ABCB4 2 83274 2.40171E-5 41637 0 NA
7-87072758-G-T p.Ile411Ile splice_region+synonymous ABCB4 5 83224 6.00788E-5 41612 0 5.03525E-4
7-87072764-TA-T c.1231-5delT splice_region ABCB4 2 83202 2.40379E-5 41601 0 NA
7-87072971-T-TA c.1230+7_1230+8insT splice_region ABCB4 2 83054 2.40807E-5 41527 0 1.99238E-5
7-87072972-A-T c.1230+7T>A splice_region ABCB4 1 83060 1.20395E-5 41530 0 NA
7-87072974-A-T c.1230+5T>A splice_region ABCB4 1 83070 1.2038E-5 41535 0 NA
7-87072983-A-G p.Val409Ala missense ABCB4 1 83096 1.20343E-5 41548 0 3.98115E-6
7-87072984-C-T p.Val409Ile missense ABCB4 4 83098 4.81359E-5 41549 0 9.55292E-5
7-87072985-G-A p.Asn408Asn synonymous ABCB4 1 83116 1.20314E-5 41558 0 1.65508E-5
7-87073009-G-A p.His400His synonymous ABCB4 1 83154 1.20259E-5 41577 0 NA
7-87073019-T-C p.Asn397Ser missense ABCB4 3 83118 3.60933E-5 41559 0 NA
7-87073023-A-G p.Phe396Leu missense ABCB4 4 83102 4.81336E-5 41551 0 3.18532E-5
7-87073029-A-G p.Leu394Leu synonymous ABCB4 1 83092 1.20349E-5 41546 0 8.24878E-6
7-87073030-A-G p.Asn393Asn synonymous ABCB4 2 83092 2.40697E-5 41546 0 NA
7-87073058-C-T p.Gly384Glu missense ABCB4 1 82978 1.20514E-5 41489 0 3.98206E-6
7-87073066-T-C p.Ser381Ser synonymous ABCB4 2 82966 2.41063E-5 41483 0 3.18593E-5
7-87073086-G-GGCTTTGTTGTGA p.Asn374_Pro375insSerGlnGlnSer conservative_inframe_insertion ABCB4 1 82848 1.20703E-5 41424 0 NA
7-87073088-T-G p.Asn374Thr missense+splice_region ABCB4 1 82820 1.20744E-5 41410 0 NA
7-87073093-A-G c.1120-4T>C splice_region ABCB4 1 82778 1.20805E-5 41389 0 3.98845E-6
7-87074177-C-T c.1119+1G>A splice_donor ABCB4 1 82870 1.20671E-5 41435 0 NA
7-87074213-C-T p.Gly362Arg missense ABCB4 1 83066 1.20386E-5 41533 0 9.21591E-6
7-87074228-A-G p.Phe357Leu missense ABCB4 1 83068 1.20383E-5 41534 0 NA
7-87074234-C-T p.Asp355Asn missense ABCB4 1 83066 1.20386E-5 41533 0 8.1318E-6
7-87074235-A-C p.Ile354Met missense ABCB4 1 83066 1.20386E-5 41533 0 NA
7-87074237-T-C p.Ile354Val missense ABCB4 2 83050 2.40819E-5 41525 0 5.04032E-4
7-87074242-G-A p.Pro352Leu missense ABCB4 13 83048 1.56536E-4 41524 0 3.19489E-4
7-87074257-A-G p.Val347Ala missense ABCB4 1 83062 1.20392E-5 41531 0 3.18695E-5
7-87074260-C-T p.Ser346Asn missense ABCB4 4 83044 4.81672E-5 41522 0 8.99685E-6
7-87074281-G-GA p.Ser339fs frameshift ABCB4 4 82662 4.83898E-5 41331 0 0.00315867
7-87074297-C-CA c.1006-7_1006-6insT splice_region ABCB4 1 82768 1.2082E-5 41384 0 NA
7-87076352-T-C p.Thr335Ala missense+splice_region ABCB4 1 82716 1.20896E-5 41358 0 1.66091E-5
7-87076358-C-T p.Ala333Thr missense ABCB4 5 82766 6.04113E-5 41383 0 3.18431E-5
7-87076366-A-G p.Ile330Thr missense ABCB4 1 82836 1.2072E-5 41418 0 3.98505E-6
7-87076396-G-A p.Ser320Phe missense ABCB4 18 83012 2.16836E-4 41506 0 6.25E-4
7-87076428-A-G p.Tyr309Tyr synonymous ABCB4 21 83086 2.5275E-4 41543 0 1.73448E-4
7-87076449-A-G p.Gly302Gly synonymous ABCB4 1 83116 1.20314E-5 41558 0 3.9814E-6
7-87076455-G-A p.Ser300Ser synonymous ABCB4 5 83142 6.01381E-5 41571 0 NA
7-87076456-G-T p.Ser300Tyr missense ABCB4 2 83146 2.40541E-5 41573 0 3.98127E-6
7-87076461-G-A p.Asn298Asn synonymous ABCB4 1 83124 1.20302E-5 41562 0 3.98165E-6
7-87076466-C-A p.Ala297Ser missense ABCB4 1 83144 1.20273E-5 41572 0 NA
7-87076480-T-C p.Lys292Arg missense ABCB4 3 83126 3.60898E-5 41563 0 3.18603E-5
7-87076489-A-G p.Ile289Thr missense ABCB4 3 83108 3.60976E-5 41554 0 3.18532E-5
7-87076498-G-A p.Ala286Val missense ABCB4 1 83066 1.20386E-5 41533 0 1.66964E-5
7-87076506-T-C p.Leu283Leu synonymous ABCB4 2 83040 2.40848E-5 41520 0 3.18921E-5
7-87079278-C-T c.833+6G>A splice_region ABCB4 48 83222 5.76771E-4 41611 0 0.00168333
7-87079288-C-T p.Glu277Lys missense ABCB4 2 83234 2.40286E-5 41617 0 7.95912E-6
7-87079296-T-C p.Lys274Arg missense ABCB4 1 83222 1.20161E-5 41611 0 NA
7-87079308-C-T p.Gly270Glu missense ABCB4 6 83202 7.21137E-5 41601 0 NA
7-87079309-C-T p.Gly270Arg missense ABCB4 2 83202 2.40379E-5 41601 0 7.96026E-6
7-87079309-C-G p.Gly270Arg missense ABCB4 4 83202 4.80758E-5 41601 0 3.04893E-4
7-87079318-T-A p.Ile267Leu missense ABCB4 1 83196 1.20198E-5 41598 0 8.23995E-6
7-87079354-C-T p.Val255Met missense ABCB4 2 83076 2.40743E-5 41538 0 3.18552E-5
7-87079355-G-A p.Ala254Ala synonymous ABCB4 1 83058 1.20398E-5 41529 0 2.47202E-5
7-87079357-C-T p.Ala254Thr missense ABCB4 25 83052 3.01016E-4 41526 0 1.91095E-4
7-87079358-G-A p.Gly253Gly synonymous ABCB4 1 83032 1.20435E-5 41516 0 7.96273E-6
7-87079399-C-T p.Ala240Thr missense ABCB4 1 82800 1.20773E-5 41400 0 NA
7-87079400-C-T p.Ser239Ser synonymous ABCB4 4 82792 4.83138E-5 41396 0 5.03525E-4
7-87079401-G-A p.Ser239Leu missense ABCB4 1 82794 1.20782E-5 41397 0 NA
7-87079405-G-C p.Leu238Val missense ABCB4 40 82804 4.83068E-4 41402 0 0.00140145
7-87079406-T-A p.Ile237Ile splice_region+synonymous ABCB4 16521 82338 0.200649 41169 1735 0.220978
7-87079408-T-A p.Ile237Leu missense+splice_region ABCB4 1 82766 1.20823E-5 41383 0 3.98387E-6
7-87080939-C-T p.Lys236Lys splice_region+synonymous ABCB4 2 83094 2.40691E-5 41547 0 NA
7-87080951-G-A p.Ala232Ala synonymous ABCB4 39 83146 4.69054E-4 41573 1 7.32624E-4
7-87080954-T-C p.Ala231Ala synonymous ABCB4 1 83164 1.20244E-5 41582 0 8.24688E-6
7-87080957-A-C p.Ser230Ser synonymous ABCB4 2 83176 2.40454E-5 41588 0 NA
7-87080966-T-C p.Leu227Leu synonymous ABCB4 2 83198 2.4039E-5 41599 0 3.97921E-6
7-87080972-A-C p.Pro225Pro synonymous ABCB4 2 83224 2.40315E-5 41612 0 3.97912E-6
7-87080996-G-C p.Thr217Thr synonymous ABCB4 4 83272 4.80354E-5 41636 0 NA
7-87080998-T-G p.Thr217Pro missense ABCB4 2 83274 2.40171E-5 41637 0 NA
7-87080999-G-A p.Leu216Leu synonymous ABCB4 1 83278 1.2008E-5 41639 0 NA
7-87081008-T-G p.Gly213Gly synonymous ABCB4 1 83304 1.20042E-5 41652 0 NA
7-87081016-T-A p.Ile211Phe missense ABCB4 1 83310 1.20034E-5 41655 0 3.97833E-6
7-87081028-T-C p.Ile207Val missense ABCB4 1 83320 1.20019E-5 41660 0 NA
7-87081037-C-CAA p.Ala204fs frameshift ABCB4 1 83326 1.20011E-5 41663 0 NA
7-87081039-A-G p.Phe203Ser missense ABCB4 1 83328 1.20008E-5 41664 0 NA
7-87081044-C-T p.Thr201Thr synonymous ABCB4 1 83328 1.20008E-5 41664 0 5.03525E-4
7-87081073-C-A p.Val192Phe missense ABCB4 1 83330 1.20005E-5 41665 0 0.00100705
7-87081073-C-T p.Val192Ile missense ABCB4 1 83330 1.20005E-5 41665 0 NA
7-87081082-C-A p.Gly189Cys missense ABCB4 1 83318 1.20022E-5 41659 0 NA
7-87081111-C-A c.537-1G>T splice_acceptor ABCB4 2 83256 2.40223E-5 41628 0 NA
7-87082265-T-A p.Leu177Leu synonymous ABCB4 1 83096 1.20343E-5 41548 0 3.18552E-5
7-87082271-C-T p.Thr175Thr synonymous ABCB4 5 83106 6.01641E-5 41553 0 6.59565E-5
7-87082272-G-A p.Thr175Met missense ABCB4 6 83120 7.21848E-5 41560 0 2.63813E-4
7-87082272-G-C p.Thr175Arg missense ABCB4 1 83120 1.20308E-5 41560 0 NA
7-87082273-T-C p.Thr175Ala missense ABCB4 641 83122 0.00771156 41561 11 0.0124212
7-87082285-T-C p.Thr171Ala missense ABCB4 3 83172 3.60698E-5 41586 0 9.15175E-5
7-87082287-G-C p.Thr170Ser missense ABCB4 1 83180 1.20221E-5 41590 0 3.18492E-5
7-87082292-G-A p.Asn168Asn synonymous ABCB4 37542 82584 0.454592 41292 9370 0.479842
7-87082292-GT-AC p.Asn168Ser missense ABCB4 1 83206 1.20184E-5 41603 0 NA
7-87082298-G-A p.Asp166Asp synonymous ABCB4 2 83226 2.4031E-5 41613 0 NA
7-87082321-G-A p.Arg159* stop_gained ABCB4 1 83270 1.20091E-5 41635 0 3.29647E-5
7-87082330-C-A p.Ala156Ser missense ABCB4 1 83272 1.20088E-5 41636 0 NA
7-87082337-A-G p.Phe153Phe synonymous ABCB4 585 83282 0.00702433 41641 12 0.015109
7-87082340-C-T p.Lys152Lys synonymous ABCB4 87 83274 0.00104474 41637 1 0.00704935
7-87082365-C-T p.Arg144Gln missense ABCB4 1 83280 1.20077E-5 41640 0 3.18634E-5
7-87082393-C-T p.Val135Ile missense ABCB4 1 83276 1.20083E-5 41638 0 3.18593E-5
7-87082400-A-G p.Tyr132Tyr synonymous ABCB4 2 83280 2.40154E-5 41640 0 NA
7-87082419-C-T p.Gly126Glu missense ABCB4 2 83244 2.40258E-5 41622 0 NA
7-87082422-G-C p.Ala125Gly missense ABCB4 1 83230 1.20149E-5 41615 0 NA
7-87082430-T-C p.Gly122Gly synonymous ABCB4 4 83210 4.80711E-5 41605 0 0.00100705
7-87082442-A-G p.Tyr118Tyr synonymous ABCB4 1 83152 1.20262E-5 41576 0 1.19474E-5
7-87082445-T-A p.Ala117Ala synonymous ABCB4 1 83132 1.20291E-5 41566 0 8.28144E-6
7-87082446-G-C p.Ala117Gly missense ABCB4 1 83118 1.20311E-5 41559 0 NA
7-87082454-G-GA c.345-4_345-3insT splice_region ABCB4 13 83024 1.56581E-4 41512 0 3.32917E-5
7-87083886-T-C p.Leu103Leu synonymous ABCB4 2 82906 2.41237E-5 41453 0 8.68176E-6
7-87083893-G-A p.Ser101Leu missense ABCB4 6 82824 7.24428E-5 41412 0 5.04032E-4
7-87083903-A-C p.Phe98Val missense ABCB4 2 82748 2.41698E-5 41374 0 NA
7-87083904-G-A p.Asn97Asn synonymous ABCB4 1 82732 1.20872E-5 41366 0 4.0244E-6
7-87083904-G-C p.Asn97Lys missense ABCB4 1 82732 1.20872E-5 41366 0 NA
7-87092080-A-G p.Phe94Leu missense ABCB4 4 83208 4.80723E-5 41604 0 9.55353E-5
7-87092094-G-A p.Ala89Val missense ABCB4 1 83198 1.20195E-5 41599 0 8.24402E-6
7-87092097-G-C p.Thr88Ser missense ABCB4 2 83200 2.40385E-5 41600 0 7.95741E-6
7-87092119-T-C p.Met81Val missense ABCB4 2 83252 2.40234E-5 41626 0 NA
7-87092120-C-T p.Glu80Glu synonymous ABCB4 11 83260 1.32116E-4 41630 0 0.00151057
7-87092127-A-C p.Phe78Cys missense ABCB4 2 83284 2.40142E-5 41642 0 3.9782E-6
7-87092129-T-C p.Val77Val synonymous ABCB4 2 83282 2.40148E-5 41641 0 8.24266E-6
7-87092137-T-C p.Met75Val missense ABCB4 1 83282 1.20074E-5 41641 0 NA
7-87092138-C-A p.Met74Ile missense ABCB4 1 83290 1.20062E-5 41645 0 NA
7-87092143-G-C p.Leu73Val missense ABCB4 127 83278 0.00152501 41639 1 0.00100705
7-87092153-T-C p.Ser69Ser synonymous ABCB4 3 83298 3.60153E-5 41649 0 NA
7-87092158-C-T p.Gly68Arg missense ABCB4 2 83294 2.40113E-5 41647 0 3.97947E-6
7-87092159-G-A p.His67His synonymous ABCB4 2 83286 2.40136E-5 41643 0 3.18776E-5
7-87092185-G-A p.Leu59Leu synonymous ABCB4 15764 82926 0.190097 41463 1861 0.225532
7-87092187-G-A p.Ser58Leu missense ABCB4 1 83270 1.20091E-5 41635 0 8.25314E-5
7-87092195-C-A p.Leu55Phe missense ABCB4 1 83274 1.20085E-5 41637 0 NA
7-87092195-C-T p.Leu55Leu synonymous ABCB4 1 83274 1.20085E-5 41637 0 NA
7-87092212-C-T p.Asp50Asn missense ABCB4 6 83236 7.20842E-5 41618 0 8.30951E-6
7-87092213-G-A p.Ser49Ser synonymous ABCB4 595 83210 0.00715058 41605 12 0.0164807
7-87092215-A-T p.Ser49Thr missense ABCB4 1 83212 1.20175E-5 41606 0 NA
7-87092220-C-T p.Arg47Gln missense ABCB4 9 83172 1.08209E-4 41586 0 0.00201816
7-87092221-G-A p.Arg47* stop_gained ABCB4 1 83164 1.20244E-5 41582 0 1.19585E-5
7-87092222-A-C p.Phe46Leu missense+splice_region ABCB4 1 83158 1.20253E-5 41579 0 NA
7-87092222-A-G p.Phe46Phe splice_region+synonymous ABCB4 1 83158 1.20253E-5 41579 0 NA
7-87101929-CA-C c.135+7delT splice_region ABCB4 2 83120 2.40616E-5 41560 0 NA
7-87101942-T-C p.Thr44Ala missense ABCB4 1 83176 1.20227E-5 41588 0 NA
7-87101948-C-T p.Val42Ile missense ABCB4 2 83176 2.40454E-5 41588 0 8.28404E-6
7-87101950-C-G p.Gly41Ala missense ABCB4 1 83172 1.20233E-5 41586 0 NA
7-87101952-A-C p.Ile40Met missense ABCB4 1 83170 1.20236E-5 41585 0 8.29311E-6
7-87101953-A-G p.Ile40Thr missense ABCB4 1 83170 1.20236E-5 41585 0 NA
7-87101971-G-A p.Thr34Met missense ABCB4 60 83132 7.21744E-4 41566 0 0.00353179
7-87101971-GTTTT-G p.Lys33fs frameshift ABCB4 1 83136 1.20285E-5 41568 0 3.98765E-6
7-87101971-G-T p.Thr34Lys missense ABCB4 1 83136 1.20285E-5 41568 0 7.97531E-6
7-87101974-T-C p.Lys33Arg missense ABCB4 1 83124 1.20302E-5 41562 0 3.1841E-5
7-87101980-CTTTT-C p.Lys30fs frameshift ABCB4 2 83086 2.40714E-5 41543 0 3.99578E-6
7-87101995-T-TA c.81-5_81-4insT splice_region ABCB4 4 82936 4.823E-5 41468 0 1.7583E-5
7-87104697-T-G c.80+5A>C splice_region ABCB4 7 83094 8.42419E-5 41547 0 1.59317E-4
7-87104709-T-C p.Ile25Val missense ABCB4 1 83164 1.20244E-5 41582 0 NA
7-87104711-C-T p.Gly24Asp missense ABCB4 2 83156 2.40512E-5 41578 0 3.1839E-5
7-87104713-C-T p.Leu23Leu synonymous ABCB4 1 83166 1.20241E-5 41583 0 7.95374E-6
7-87104716-T-C p.Glu22Glu synonymous ABCB4 4 83162 4.80989E-5 41581 0 5.03525E-4
7-87104722-G-C p.Asp20Glu missense ABCB4 1 83142 1.20276E-5 41571 0 NA
7-87104728-C-T p.Glu18Glu synonymous ABCB4 4 83174 4.8092E-5 41587 0 2.38614E-5
7-87104740-G-A p.Pro14Pro synonymous ABCB4 1 83198 1.20195E-5 41599 0 NA
7-87104750-G-C p.Ala11Gly missense ABCB4 1 83188 1.2021E-5 41594 0 0.00100705
7-87104751-C-T p.Ala11Thr missense ABCB4 1 83186 1.20213E-5 41593 0 3.97706E-6
7-87104768-G-T p.Ala5Glu missense ABCB4 1 83156 1.20256E-5 41578 0 NA
7-87104770-C-A p.Glu4Asp missense ABCB4 7 83152 8.41832E-5 41576 0 1.56771E-4
7-87104791-A-G c.-6-4T>C splice_region ABCB4 446 82924 0.00537842 41462 9 0.0107815
7-87106365-G-A c.-205C>T splice_region ABCB4 3 8 0.375 4 1 0.190833