Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-44066198-C-G p.Ala2Ala synonymous ABCG8 1 80734 1.23864E-5 40367 0 3.18735E-5
2-44066198-C-A p.Ala2Ala synonymous ABCG8 1 80734 1.23864E-5 40367 0 NA
2-44066199-G-A p.Gly3Arg missense ABCG8 3 80752 3.71508E-5 40376 0 NA
2-44066203-A-C p.Lys4Thr missense ABCG8 3 80754 3.71499E-5 40377 0 NA
2-44066207-G-A p.Ala5Ala synonymous ABCG8 2 80700 2.47831E-5 40350 0 9.56023E-5
2-44066210-A-G p.Ala6Ala synonymous ABCG8 1 80662 1.23974E-5 40331 0 NA
2-44066216-G-C p.Glu8Asp missense ABCG8 3 80638 3.72033E-5 40319 0 NA
2-44066228-G-A p.Pro12Pro synonymous ABCG8 4 80412 4.97438E-5 40206 0 5.10882E-5
2-44066234-G-T p.Gly14Gly synonymous ABCG8 1 80310 1.24517E-5 40155 0 NA
2-44066243-C-A p.Pro17Pro synonymous ABCG8 264 80154 0.00329366 40077 1 0.00800281
2-44066247-G-C p.Asp19His missense ABCG8 5340 79890 0.0668419 39945 215 0.0818554
2-44066252-C-T p.Thr20Thr synonymous ABCG8 2 79922 2.50244E-5 39961 0 6.45603E-6
2-44066254-C-T p.Ser21Leu missense+splice_region ABCG8 11 79832 1.37789E-4 39916 0 1.02062E-4
2-44066255-G-A p.Ser21Ser splice_region+synonymous ABCG8 1 79790 1.25329E-5 39895 0 1.53171E-4
2-44071639-C-T c.64-7C>T splice_region ABCG8 31114 81360 0.382424 40680 6038 0.44906
2-44071644-A-G c.64-2A>G splice_acceptor ABCG8 2 82778 2.4161E-5 41389 0 3.18532E-5
2-44071646-G-A p.Gly22Ser missense+splice_region ABCG8 2 82806 2.41528E-5 41403 0 1.19427E-5
2-44071658-A-G p.Arg26Gly missense ABCG8 11 82974 1.32572E-4 41487 0 7.1615E-5
2-44071661-T-C p.Leu27Leu synonymous ABCG8 1 82968 1.20528E-5 41484 0 NA
2-44071663-G-T p.Leu27Phe missense ABCG8 3 83006 3.6142E-5 41503 0 7.95716E-6
2-44071676-A-G p.Ser32Gly missense ABCG8 279 83074 0.00335845 41537 4 0.00831422
2-44071679-G-A p.Asp33Asn missense ABCG8 22 83104 2.64729E-4 41552 0 4.45803E-4
2-44071682-A-G p.Asn34Asp missense ABCG8 2 83086 2.40714E-5 41543 0 3.97744E-6
2-44071707-G-T p.Gly42Val missense ABCG8 1 83074 1.20375E-5 41537 0 3.18492E-5
2-44071710-A-C p.Gln43Pro missense ABCG8 1 83048 1.20412E-5 41524 0 NA
2-44071712-C-A p.Pro44Thr missense ABCG8 2 83044 2.40836E-5 41522 0 6.25E-4
2-44071719-C-A p.Thr46Asn missense ABCG8 2 82990 2.40993E-5 41495 0 7.95577E-6
2-44071721-C-T p.Leu47Leu synonymous ABCG8 1 82976 1.20517E-5 41488 0 NA
2-44071736-C-G p.Leu52Val missense ABCG8 201 82772 0.00242836 41386 0 0.00566843
2-44071743-A-G p.Tyr54Cys missense ABCG8 29038 81932 0.354416 40966 5461 0.42889
2-44071743-AC-GA p.Tyr54* stop_gained ABCG8 1 82678 1.20951E-5 41339 0 NA
2-44071753-G-C c.165+6G>C splice_region ABCG8 1 82582 1.21092E-5 41291 0 3.98575E-6
2-44073289-C-T c.166-5C>T splice_region ABCG8 1 82816 1.2075E-5 41408 0 8.24226E-6
2-44073296-G-A p.Val56Val splice_region+synonymous ABCG8 1 82970 1.20525E-5 41485 0 7.95431E-6
2-44073303-G-T p.Ala59Ser missense ABCG8 4 83036 4.81719E-5 41518 0 5.03525E-4
2-44073304-C-A p.Ala59Asp missense ABCG8 1 83058 1.20398E-5 41529 0 3.18471E-5
2-44073305-C-G p.Ala59Ala synonymous ABCG8 1 83078 1.20369E-5 41539 0 3.18431E-5
2-44073311-GG-TT p.GlnVal61HisPhe missense ABCG8 1 83144 1.20273E-5 41572 0 NA
2-44073312-G-A p.Val62Ile missense ABCG8 2 83158 2.40506E-5 41579 0 2.38593E-5
2-44073312-G-T p.Val62Phe missense ABCG8 1 83158 1.20253E-5 41579 0 1.64813E-5
2-44073314-C-T p.Val62Val synonymous ABCG8 1 83192 1.20204E-5 41596 0 NA
2-44073321-T-C p.Phe65Leu missense ABCG8 1 83230 1.20149E-5 41615 0 NA
2-44073330-C-T p.Leu68Leu synonymous ABCG8 1 83294 1.20057E-5 41647 0 NA
2-44073346-T-C p.Met73Thr missense ABCG8 1 83314 1.20028E-5 41657 0 NA
2-44073348-C-G p.Pro74Ala missense ABCG8 14 83300 1.68067E-4 41650 0 0.00125313
2-44073360-C-A p.Pro78Thr missense ABCG8 1 83314 1.20028E-5 41657 0 3.18532E-5
2-44073367-G-A p.Cys80Tyr missense ABCG8 891 83310 0.010695 41655 22 0.0233225
2-44073368-C-T p.Cys80Cys synonymous ABCG8 2 83314 2.40056E-5 41657 0 NA
2-44073377-T-TTGTGAGCTGGGCATCCAGAACCTAAGCTTCA p.Lys94fs frameshift ABCG8 1 83332 1.20002E-5 41666 0 3.97649E-6
2-44073383-G-T p.Glu85Asp missense ABCG8 5 83312 6.00154E-5 41656 0 4.37424E-5
2-44073390-A-G p.Ile88Val missense ABCG8 2 83298 2.40102E-5 41649 0 NA
2-44073391-T-C p.Ile88Thr missense ABCG8 2 83298 2.40102E-5 41649 0 7.95323E-6
2-44073393-C-G p.Gln89Glu missense ABCG8 7 83298 8.40356E-5 41649 0 1.64791E-5
2-44073393-C-T p.Gln89* stop_gained ABCG8 1 83300 1.20048E-5 41650 0 NA
2-44073394-A-G p.Gln89Arg missense ABCG8 1 83296 1.20054E-5 41648 0 NA
2-44073399-C-T p.Leu91Leu synonymous ABCG8 2 83300 2.40096E-5 41650 0 3.29625E-5
2-44073403-G-A p.Ser92Asn missense ABCG8 16 83288 1.92105E-4 41644 0 4.94486E-5
2-44073413-G-C p.Val95Val synonymous ABCG8 1 83266 1.20097E-5 41633 0 1.64848E-5
2-44073419-T-C p.Ser97Ser synonymous ABCG8 2 83246 2.40252E-5 41623 0 9.5584E-5
2-44073432-G-A p.Ala102Thr missense ABCG8 3 83186 3.60638E-5 41593 0 NA
2-44073443-G-T p.Gly105Gly synonymous ABCG8 1 83106 1.20328E-5 41553 0 NA
2-44073448-C-G p.Ser107* stop_gained ABCG8 1 83034 1.20433E-5 41517 0 1.65177E-5
2-44073454-C-G c.322+4C>G splice_region ABCG8 1 82938 1.20572E-5 41469 0 8.2616E-6
2-44073455-C-T c.322+5C>T splice_region ABCG8 4 82916 4.82416E-5 41458 0 3.30497E-5
2-44078726-G-A p.Cys109Tyr missense ABCG8 1 82008 1.21939E-5 41004 0 3.99859E-6
2-44078727-T-C p.Cys109Cys synonymous ABCG8 1 82014 1.2193E-5 41007 0 NA
2-44078731-A-C p.Arg111Arg synonymous ABCG8 5 82138 6.08732E-5 41069 0 3.18552E-5
2-44078742-G-A p.Leu114Leu synonymous ABCG8 6 82322 7.28845E-5 41161 0 1.91107E-4
2-44078748-T-A p.Asp116Glu missense ABCG8 1 82548 1.21142E-5 41274 0 NA
2-44078751-G-A p.Val117Val synonymous ABCG8 10 82606 1.21057E-4 41303 0 0.00151057
2-44078757-T-C p.Thr119Thr synonymous ABCG8 1 82668 1.20966E-5 41334 0 3.9867E-6
2-44078761-C-G p.Arg121Gly missense ABCG8 1 82700 1.20919E-5 41350 0 3.18512E-5
2-44078761-C-T p.Arg121* stop_gained ABCG8 3 82700 3.62757E-5 41350 0 3.29826E-5
2-44078762-G-A p.Arg121Gln missense ABCG8 2 82772 2.41628E-5 41386 0 6.25E-4
2-44078767-C-T p.His123Tyr missense ABCG8 1 82802 1.2077E-5 41401 0 3.98479E-6
2-44078769-C-T p.His123His synonymous ABCG8 2 82800 2.41546E-5 41400 0 6.3678E-5
2-44078770-G-A p.Gly124Ser missense ABCG8 2 82816 2.41499E-5 41408 0 6.37024E-5
2-44078772-C-T p.Gly124Gly synonymous ABCG8 1 82796 1.20779E-5 41398 0 3.58546E-5
2-44078773-G-A p.Gly125Ser missense ABCG8 1 82832 1.20726E-5 41416 0 0.0020141
2-44078778-G-C p.Lys126Asn missense ABCG8 1 82932 1.20581E-5 41466 0 NA
2-44078781-C-T p.Ile127Ile synonymous ABCG8 3 82942 3.61699E-5 41471 0 5.77053E-5
2-44078782-A-G p.Lys128Glu missense ABCG8 1 82948 1.20557E-5 41474 0 NA
2-44078784-G-A p.Lys128Lys synonymous ABCG8 11 82950 1.3261E-4 41475 0 1.2342E-4
2-44078785-T-A p.Ser129Thr missense ABCG8 2 82942 2.41132E-5 41471 0 3.18613E-5
2-44078789-G-T p.Gly130Val missense ABCG8 2 82954 2.41097E-5 41477 0 NA
2-44078805-T-C p.Asn135Asn synonymous ABCG8 2 83074 2.40749E-5 41537 0 2.47235E-5
2-44078806-G-T p.Gly136Trp missense ABCG8 2 83078 2.40738E-5 41539 0 NA
2-44078817-C-G p.Ser139Arg missense ABCG8 1 83132 1.20291E-5 41566 0 NA
2-44078819-C-T p.Ser140Leu missense ABCG8 3 83138 3.60846E-5 41569 0 6.59239E-5
2-44078820-G-A p.Ser140Ser synonymous ABCG8 1 83138 1.20282E-5 41569 0 3.97912E-6
2-44078825-A-C p.Gln142Pro missense ABCG8 1 83172 1.20233E-5 41586 0 6.25E-4
2-44078830-G-C p.Val144Leu missense ABCG8 1 83172 1.20233E-5 41586 0 NA
2-44078830-G-A p.Val144Met missense ABCG8 2 83172 2.40466E-5 41586 0 3.29603E-5
2-44078830-GTGA-G p.Val144_Arg145delinsGly disruptive_inframe_deletion ABCG8 1 83172 1.20233E-5 41586 0 NA
2-44078846-C-T p.Ala149Val missense ABCG8 1 83188 1.2021E-5 41594 0 8.23927E-6
2-44078848-C-T p.His150Tyr missense ABCG8 1 83190 1.20207E-5 41595 0 NA
2-44078850-C-T p.His150His synonymous ABCG8 8 83184 9.61723E-5 41592 0 0.00100705
2-44078851-G-A p.Val151Met missense ABCG8 4 83162 4.80989E-5 41581 0 4.37797E-5
2-44078853-G-A p.Val151Val synonymous ABCG8 5606 83052 0.0674999 41526 230 0.0840886
2-44078854-C-T p.Arg152Cys missense ABCG8 3 83156 3.60768E-5 41578 0 1.59207E-5
2-44078855-G-A p.Arg152His missense ABCG8 1 83142 1.20276E-5 41571 0 3.18423E-5
2-44078871-G-T p.Leu157Leu synonymous ABCG8 1 83134 1.20288E-5 41567 0 NA
2-44078874-C-T p.Leu158Leu synonymous ABCG8 1 83140 1.20279E-5 41570 0 3.98264E-6
2-44078887-G-A p.Val163Met missense ABCG8 1 83050 1.20409E-5 41525 0 NA
2-44078891-G-A p.Arg164Gln missense ABCG8 79 82994 9.51876E-4 41497 0 0.00203874
2-44078909-T-C p.Ile170Thr missense ABCG8 1 82798 1.20776E-5 41399 0 3.99377E-6
2-44078912-C-A p.Ala171Asp missense ABCG8 1 82708 1.20907E-5 41354 0 2.39756E-5
2-44078914-C-G p.Gln172Glu missense ABCG8 1 82694 1.20928E-5 41347 0 NA
2-44078919-G-A p.Met173Ile missense ABCG8 1 82660 1.20978E-5 41330 0 1.99938E-5
2-44078920-C-T p.Arg174Trp missense ABCG8 5 82618 6.05195E-5 41309 0 2.47141E-5
2-44078921-G-A p.Arg174Gln missense ABCG8 2 82592 2.42154E-5 41296 0 5.03525E-4
2-44078933-C-A p.Thr178Asn missense ABCG8 1 82438 1.21303E-5 41219 0 NA
2-44078944-GC-G p.Gln183fs frameshift ABCG8 2 82238 2.43197E-5 41119 0 7.21663E-5
2-44078946-C-T p.Ala182Ala synonymous ABCG8 6 82216 7.29785E-5 41108 0 1.68428E-4
2-44078950-C-T p.Arg184Cys missense ABCG8 1 82158 1.21717E-5 41079 0 2.80752E-5
2-44078951-G-A p.Arg184His missense ABCG8 3 82156 3.65159E-5 41078 0 3.18451E-5
2-44079486-C-A c.562-7C>A splice_region ABCG8 2 82078 2.43671E-5 41039 0 3.18431E-5
2-44079501-C-T p.Asp190Asp synonymous ABCG8 14 82526 1.69644E-4 41263 0 2.22958E-4
2-44079502-G-A p.Val191Met missense ABCG8 1 82564 1.21118E-5 41282 0 1.59599E-5
2-44079505-A-T p.Ile192Phe missense ABCG8 1 82620 1.21036E-5 41310 0 NA
2-44079507-C-T p.Ile192Ile synonymous ABCG8 99 82628 0.00119814 41314 0 0.00253293
2-44079509-C-T p.Ala193Val missense ABCG8 3 82668 3.62897E-5 41334 0 6.26566E-4
2-44079515-T-A p.Leu195Gln missense ABCG8 4 82754 4.8336E-5 41377 0 3.9861E-6
2-44079517-C-T p.Arg196Trp missense ABCG8 4 82778 4.8322E-5 41389 0 1.1625E-4
2-44079518-G-A p.Arg196Gln missense ABCG8 3 82784 3.62389E-5 41392 0 NA
2-44079524-G-T p.Arg198Met missense ABCG8 7 82858 8.44819E-5 41429 0 9.1651E-5
2-44079531-C-T p.Cys200Cys synonymous ABCG8 1 82860 1.20685E-5 41430 0 1.66044E-5
2-44079540-C-T p.Thr203Thr synonymous ABCG8 2 82900 2.41255E-5 41450 0 NA
2-44079540-C-A p.Thr203Thr synonymous ABCG8 1 82900 1.20627E-5 41450 0 3.18715E-5
2-44079541-C-T p.Arg204Cys missense ABCG8 1 82902 1.20624E-5 41451 0 2.39118E-5
2-44079542-G-A p.Arg204His missense ABCG8 8 82912 9.64878E-5 41456 0 1.74294E-4
2-44079543-C-T p.Arg204Arg synonymous ABCG8 1 82900 1.20627E-5 41450 0 3.18532E-5
2-44079544-G-A p.Val205Met missense ABCG8 6 82924 7.23554E-5 41462 0 3.32044E-5
2-44079544-G-C p.Val205Leu missense ABCG8 1 82924 1.20592E-5 41462 0 3.98486E-6
2-44079550-A-G p.Asn207Asp missense ABCG8 1 82988 1.20499E-5 41494 0 5.03525E-4
2-44079553-A-G p.Met208Val missense ABCG8 3 82988 3.61498E-5 41494 0 NA
2-44079558-C-T p.Tyr209Tyr synonymous ABCG8 2 82982 2.41016E-5 41491 0 1.19556E-5
2-44079559-G-A p.Val210Met missense ABCG8 555 82976 0.00668868 41488 7 0.0133584
2-44079561-G-T p.Val210Val synonymous ABCG8 1 82982 1.20508E-5 41491 0 NA
2-44079562-C-T p.Arg211Trp missense ABCG8 1 82968 1.20528E-5 41484 0 3.18959E-5
2-44079563-G-A p.Arg211Gln missense ABCG8 1 83008 1.2047E-5 41504 0 3.18735E-5
2-44079572-C-T p.Ser214Leu missense ABCG8 1 82986 1.20502E-5 41493 0 1.99508E-5
2-44079573-G-A p.Ser214Ser synonymous ABCG8 1 83002 1.20479E-5 41501 0 0.00313283
2-44079575-G-C p.Gly215Ala missense ABCG8 1 83016 1.20459E-5 41508 0 3.98613E-6
2-44079577-G-A p.Gly216Ser missense ABCG8 1 83022 1.2045E-5 41511 0 NA
2-44079578-G-T p.Gly216Val missense ABCG8 2 83028 2.40883E-5 41514 0 NA
2-44079578-G-A p.Gly216Asp missense ABCG8 2 83028 2.40883E-5 41514 0 8.29903E-6
2-44079583-C-T p.Arg218Cys missense ABCG8 4 82990 4.81986E-5 41495 0 6.38203E-5
2-44079584-G-A p.Arg218His missense ABCG8 3 83008 3.61411E-5 41504 0 6.37877E-5
2-44079589-A-G p.Arg220Gly missense ABCG8 1 83026 1.20444E-5 41513 0 NA
2-44079591-A-AGT p.Ile223fs frameshift ABCG8 1 83006 1.20473E-5 41503 0 8.29545E-6
2-44079592-G-A p.Val221Ile missense ABCG8 1 83024 1.20447E-5 41512 0 NA
2-44079605-T-A p.Val225Glu missense ABCG8 3 82960 3.6162E-5 41480 0 9.57426E-5
2-44079606-G-A p.Val225Val synonymous ABCG8 4554 82816 0.0549894 41408 141 0.153942
2-44079608-A-T p.Gln226Leu missense ABCG8 2 82982 2.41016E-5 41491 0 3.18756E-5
2-44079630-G-C c.694+5G>C splice_region ABCG8 4 82832 4.82905E-5 41416 0 2.231E-4
2-44079632-G-T c.694+7G>T splice_region ABCG8 3 82792 3.62354E-5 41396 0 5.84981E-5
2-44079731-T-C c.695-7T>C splice_region ABCG8 10 82570 1.21109E-4 41285 0 1.03681E-4
2-44079732-G-C c.695-6G>C splice_region ABCG8 1 82560 1.21124E-5 41280 0 1.65681E-5
2-44079738-G-T p.Gly232Val missense+splice_region ABCG8 9 82652 1.0889E-4 41326 0 9.56511E-5
2-44079749-C-G p.Leu236Val missense ABCG8 1 82786 1.20793E-5 41393 0 8.26282E-6
2-44079751-C-T p.Leu236Leu synonymous ABCG8 2 82776 2.41616E-5 41388 0 8.26146E-6
2-44079752-G-A p.Asp237Asn missense ABCG8 3 82758 3.62503E-5 41379 0 9.56633E-5
2-44079753-A-T p.Asp237Val missense ABCG8 2 82786 2.41587E-5 41393 0 7.96356E-6
2-44079754-C-T p.Asp237Asp synonymous ABCG8 4 82814 4.8301E-5 41407 0 8.25818E-6
2-44079755-G-A p.Glu238Lys missense ABCG8 87 82844 0.00105017 41422 0 0.00101551
2-44079765-C-T p.Ser241Phe missense ABCG8 26 82978 3.13336E-4 41489 3 0.00151057
2-44079766-T-G p.Ser241Ser synonymous ABCG8 1 82996 1.20488E-5 41498 0 NA
2-44079772-C-T p.Leu243Leu synonymous ABCG8 10 83010 1.20467E-4 41505 0 3.50609E-4
2-44079773-G-A p.Asp244Asn missense ABCG8 1 83026 1.20444E-5 41513 0 5.03525E-4
2-44079781-C-T p.Phe246Phe synonymous ABCG8 1 83098 1.2034E-5 41549 0 9.55779E-5
2-44079786-C-T p.Ala248Val missense ABCG8 2 83122 2.4061E-5 41561 0 1.98912E-5
2-44079792-AC-A p.Leu251fs frameshift ABCG8 2 83114 2.40633E-5 41557 0 3.18837E-5
2-44079800-A-G p.Lys253Glu missense ABCG8 1 83130 1.20294E-5 41565 0 NA
2-44079803-A-G p.Thr254Ala missense ABCG8 2 83152 2.40523E-5 41576 0 NA
2-44079805-C-T p.Thr254Thr synonymous ABCG8 2 83162 2.40494E-5 41581 0 1.91156E-4
2-44079811-C-T p.Ser256Ser synonymous ABCG8 1 83170 1.20236E-5 41585 0 NA
2-44079814-G-A p.Arg257Arg synonymous ABCG8 1 83166 1.20241E-5 41583 0 NA
2-44079825-G-GCAACCGGCTGGTGCTCATCTCCCTC p.His270fs frameshift ABCG8 1 83196 1.20198E-5 41598 0 NA
2-44079829-C-T p.Asn262Asn synonymous ABCG8 2 83192 2.40408E-5 41596 0 NA
2-44079830-C-T p.Arg263Trp missense ABCG8 1 83186 1.20213E-5 41593 0 1.64834E-5
2-44079831-G-A p.Arg263Gln missense ABCG8 7 83188 8.41468E-5 41594 0 1.43191E-4
2-44079847-C-G p.Ser268Ser synonymous ABCG8 3 83184 3.60646E-5 41592 0 1.64826E-5
2-44079848-C-G p.Leu269Val missense ABCG8 1 83192 1.20204E-5 41596 0 NA
2-44079850-C-T p.Leu269Leu synonymous ABCG8 1 83182 1.20218E-5 41591 0 3.97722E-6
2-44079854-C-T p.Gln271* stop_gained ABCG8 1 83192 1.20204E-5 41596 0 7.95406E-6
2-44079860-C-A p.Arg273Ser missense ABCG8 2 83210 2.40356E-5 41605 0 NA
2-44079860-C-T p.Arg273Cys missense ABCG8 1 83210 1.20178E-5 41605 0 1.64802E-5
2-44079861-G-A p.Arg273His missense ABCG8 1 83220 1.20163E-5 41610 0 2.78383E-5
2-44079885-A-G p.Asp281Gly missense ABCG8 1 83240 1.20135E-5 41620 0 NA
2-44079890-G-A p.Val283Ile missense ABCG8 1 83234 1.20143E-5 41617 0 NA
2-44079890-G-T p.Val283Phe missense ABCG8 1 83234 1.20143E-5 41617 0 NA
2-44079903-C-T p.Thr287Met missense ABCG8 1 83250 1.2012E-5 41625 0 2.7835E-5
2-44079904-G-T p.Thr287Thr synonymous ABCG8 3 83244 3.60386E-5 41622 0 3.18776E-5
2-44079904-G-A p.Thr287Thr synonymous ABCG8 4 83244 4.80515E-5 41622 0 6.37552E-5
2-44079909-G-A p.Gly289Asp missense ABCG8 2 83224 2.40315E-5 41612 0 2.4715E-5
2-44079913-C-T p.Thr290Thr synonymous ABCG8 8 83242 9.61053E-5 41621 0 6.25E-4
2-44079930-C-T p.Ala296Val missense ABCG8 1 83120 1.20308E-5 41560 0 7.41718E-5
2-44079931-G-T p.Ala296Ala synonymous ABCG8 9 83124 1.08272E-4 41562 0 2.5507E-4
2-44079931-G-A p.Ala296Ala synonymous ABCG8 3 83124 3.60907E-5 41562 0 8.24158E-6
2-44079941-A-G p.Met300Val missense ABCG8 2 83060 2.4079E-5 41530 0 1.64845E-5
2-44079964-C-T p.Ile307Ile synonymous ABCG8 3 82644 3.63003E-5 41322 0 3.29951E-5
2-44079965-G-T p.Gly308Cys missense ABCG8 2 82602 2.42125E-5 41301 0 3.98064E-6
2-44079967-C-T p.Gly308Gly synonymous ABCG8 2 82484 2.42471E-5 41242 0 1.6503E-5
2-44079972-C-T p.Pro310Leu missense ABCG8 1 82370 1.21403E-5 41185 0 3.98137E-6
2-44079980-C-T p.Arg313Cys missense ABCG8 1 82080 1.21832E-5 41040 0 8.26132E-6
2-44079992-C-A p.Pro317Thr missense ABCG8 8 81250 9.84615E-5 40625 0 1.65429E-5
2-44080010-G-A c.964+3G>A splice_region ABCG8 1 80180 1.24719E-5 40090 0 NA
2-44080015-C-T c.964+8C>T splice_region ABCG8 1 79718 1.25442E-5 39859 0 NA
2-44099114-G-C c.965-1G>C splice_acceptor ABCG8 2 82278 2.43078E-5 41139 0 6.25E-4
2-44099118-A-T p.Asp323Val missense ABCG8 2 82316 2.42966E-5 41158 0 1.57105E-4
2-44099127-G-T p.Ser326Ile missense ABCG8 4 82452 4.85131E-5 41226 0 6.25E-4
2-44099127-G-A p.Ser326Asn missense ABCG8 4 82452 4.85131E-5 41226 0 6.37633E-5
2-44099134-C-G p.Asp328Glu missense ABCG8 1 82548 1.21142E-5 41274 0 NA
2-44099137-G-A p.Arg329Arg synonymous ABCG8 1 82564 1.21118E-5 41282 0 8.25818E-6
2-44099138-C-T p.Arg330Cys missense ABCG8 2 82564 2.42236E-5 41282 0 3.98406E-6
2-44099138-C-A p.Arg330Ser missense ABCG8 2 82564 2.42236E-5 41282 0 NA
2-44099139-G-A p.Arg330His missense ABCG8 1 82574 1.21103E-5 41287 0 1.99211E-5
2-44099142-G-A p.Ser331Asn missense ABCG8 2 82604 2.42119E-5 41302 0 1.65117E-5
2-44099147-G-A p.Glu333Lys missense ABCG8 1 82662 1.20975E-5 41331 0 NA
2-44099150-C-T p.Gln334* stop_gained ABCG8 2 82684 2.41885E-5 41342 0 NA
2-44099153-G-A p.Glu335Lys missense ABCG8 1 82736 1.20866E-5 41368 0 8.25191E-6
2-44099157-T-C p.Leu336Ser missense ABCG8 3 82750 3.62538E-5 41375 0 1.99106E-5
2-44099159-G-A p.Ala337Thr missense ABCG8 1 82760 1.20831E-5 41380 0 8.25123E-6
2-44099167-G-A p.Arg339Arg synonymous ABCG8 2 82812 2.41511E-5 41406 0 1.19444E-5
2-44099168-G-A p.Glu340Lys missense ABCG8 3 82814 3.62258E-5 41407 0 0.001875
2-44099174-G-T p.Ala342Ser missense ABCG8 8 82828 9.65857E-5 41414 0 0.00125
2-44099183-C-A p.Leu345Ile missense ABCG8 1 82864 1.2068E-5 41432 0 3.18512E-5
2-44099185-C-T p.Leu345Leu synonymous ABCG8 1 82880 1.20656E-5 41440 0 NA
2-44099186-G-A p.Ala346Thr missense ABCG8 3 82878 3.61978E-5 41439 0 6.37186E-5
2-44099191-C-G p.Ala347Ala synonymous ABCG8 1 82924 1.20592E-5 41462 0 8.24606E-6
2-44099205-A-C p.Lys352Thr missense ABCG8 1 83032 1.20435E-5 41516 0 NA
2-44099211-G-T p.Arg354Leu missense ABCG8 2 83014 2.40923E-5 41507 0 NA
2-44099218-A-C p.Leu356Phe missense ABCG8 2 83034 2.40865E-5 41517 0 1.98962E-5
2-44099219-G-T p.Asp357Tyr missense ABCG8 1 83036 1.2043E-5 41518 0 NA
2-44099233-G-A p.Trp361* stop_gained ABCG8 44 83044 5.2984E-4 41522 1 0.00111256
2-44099233-G-T p.Trp361Cys missense ABCG8 1 83044 1.20418E-5 41522 0 3.29647E-5
2-44099243-A-G p.Thr365Ala missense ABCG8 57 83052 6.86317E-4 41526 0 6.68577E-4
2-44099244-C-T p.Thr365Met missense ABCG8 61 83032 7.34657E-4 41516 0 0.00127453
2-44099248-G-A p.Lys366Lys synonymous ABCG8 1 83042 1.20421E-5 41521 0 3.97931E-6
2-44099256-A-T p.Asp369Val missense ABCG8 14 83000 1.68675E-4 41500 0 0.00151057
2-44099257-C-T p.Asp369Asp synonymous ABCG8 1 82988 1.20499E-5 41494 0 3.97962E-6
2-44099258-G-A p.Glu370Lys missense ABCG8 1 82984 1.20505E-5 41492 0 3.18492E-5
2-44099264-A-T p.Thr372Ser missense ABCG8 2 82950 2.41109E-5 41475 0 1.27405E-4
2-44099265-C-A p.Thr372Asn missense ABCG8 2 82952 2.41103E-5 41476 0 3.97969E-5
2-44099267-T-C p.Cys373Arg missense ABCG8 22 82954 2.65207E-4 41477 0 5.11087E-4
2-44099272-G-C p.Val374Val synonymous ABCG8 2 82946 2.41121E-5 41473 0 NA
2-44099275-A-G p.Glu375Glu splice_region+synonymous ABCG8 5 82938 6.0286E-5 41469 0 6.37186E-5
2-44099277-G-A p.Ser376Asn missense+splice_region ABCG8 1 82926 1.20589E-5 41463 0 2.78607E-5
2-44099277-G-C p.Ser376Thr missense+splice_region ABCG8 1 82926 1.20589E-5 41463 0 8.24389E-6
2-44099285-G-T c.1127+8G>T splice_region ABCG8 1 82856 1.20691E-5 41428 0 8.24552E-6
2-44099363-A-G p.Ser377Gly missense+splice_region ABCG8 1 82676 1.20954E-5 41338 0 NA
2-44099366-G-A p.Val378Met missense ABCG8 2 82660 2.41955E-5 41330 0 NA
2-44099374-A-G p.Pro380Pro synonymous ABCG8 1 82700 1.20919E-5 41350 0 NA
2-44099386-C-A p.Asn384Lys missense ABCG8 4 82766 4.8329E-5 41383 0 3.98359E-6
2-44099394-C-T p.Pro387Leu missense ABCG8 45 82754 5.4378E-4 41377 0 4.82076E-4
2-44099402-A-G p.Thr390Ala missense ABCG8 1 82818 1.20747E-5 41409 0 NA
2-44099403-C-T p.Thr390Met missense ABCG8 3 82814 3.62258E-5 41407 0 9.55414E-5
2-44099404-G-A p.Thr390Thr synonymous ABCG8 50 82820 6.03719E-4 41410 0 0.00108322
2-44099404-G-T p.Thr390Thr synonymous ABCG8 1 82824 1.20738E-5 41412 0 NA
2-44099409-T-A p.Met392Lys missense ABCG8 2 82848 2.41406E-5 41424 0 NA
2-44099409-T-C p.Met392Thr missense ABCG8 1 82848 1.20703E-5 41424 0 1.1951E-5
2-44099411-C-T p.Pro393Ser missense ABCG8 2 82838 2.41435E-5 41419 0 NA
2-44099418-C-T p.Ala395Val missense ABCG8 1 82836 1.2072E-5 41418 0 3.18593E-5
2-44099419-G-A p.Ala395Ala synonymous ABCG8 8 82834 9.65787E-5 41417 0 1.03627E-4
2-44099420-G-C p.Val396Leu missense ABCG8 1 82838 1.20718E-5 41419 0 7.97092E-6
2-44099433-C-A p.Thr400Lys missense ABCG8 17216 81984 0.209992 40992 1867 0.216168
2-44099433-C-T p.Thr400Met missense ABCG8 1 82804 1.20767E-5 41402 0 3.1902E-5
2-44099434-G-A p.Thr400Thr synonymous ABCG8 5 82790 6.03938E-5 41395 0 4.40738E-5
2-44099435-A-T p.Thr401Ser missense ABCG8 206 82766 0.00248894 41383 1 0.00755287
2-44099436-C-T p.Thr401Met missense ABCG8 1 82780 1.20802E-5 41390 0 2.68678E-5
2-44099442-T-C p.Ile403Thr missense ABCG8 1 82724 1.20884E-5 41362 0 4.00006E-6
2-44099449-A-G c.1211+4A>G splice_region ABCG8 1 82680 1.20948E-5 41340 0 NA
2-44099452-A-T c.1211+7A>T splice_region ABCG8 5 82616 6.0521E-5 41308 0 1.77068E-4
2-44100919-T-A c.1212-7T>A splice_region ABCG8 16 83210 1.92285E-4 41605 0 1.39215E-4
2-44100927-C-T p.Arg405Cys missense+splice_region ABCG8 2 83240 2.40269E-5 41620 0 3.29478E-5
2-44100928-G-A p.Arg405His missense+splice_region ABCG8 2 83234 2.40286E-5 41617 0 3.18654E-5
2-44100934-T-A p.Ile407Asn missense ABCG8 1 83260 1.20106E-5 41630 0 7.95444E-6
2-44100939-A-G p.Asn409Asp missense ABCG8 31 83266 3.72301E-4 41633 0 4.33513E-4
2-44100940-A-G p.Asn409Ser missense ABCG8 9 83270 1.08082E-4 41635 0 3.10216E-4
2-44100948-C-T p.Arg412* stop_gained ABCG8 8 83276 9.60661E-5 41638 0 1.07075E-4
2-44100957-C-T p.Pro415Ser missense ABCG8 2 83284 2.40142E-5 41642 0 3.97712E-6
2-44100959-C-A p.Pro415Pro synonymous ABCG8 1 83282 1.20074E-5 41641 0 7.95431E-6
2-44100963-C-G p.Leu417Val missense ABCG8 2 83284 2.40142E-5 41642 0 1.98858E-5
2-44100970-TC-AA p.Ile419Lys missense ABCG8 3 83290 3.60187E-5 41645 0 NA
2-44100970-T-A p.Ile419Asn missense ABCG8 1 83290 1.20062E-5 41645 0 9.06021E-5
2-44100979-C-T p.Ala422Val missense ABCG8 4 83282 4.80296E-5 41641 0 5.76559E-5
2-44100980-G-A p.Ala422Ala synonymous ABCG8 1 83276 1.20083E-5 41638 0 2.47097E-5
2-44100981-G-A p.Glu423Lys missense ABCG8 3 83284 3.60213E-5 41642 0 1.59086E-5
2-44100982-A-G p.Glu423Gly missense ABCG8 2 83288 2.40131E-5 41644 0 NA
2-44100984-G-A p.Ala424Thr missense ABCG8 1 83284 1.20071E-5 41642 0 NA
2-44100990-C-G p.Leu426Val missense ABCG8 3 83286 3.60205E-5 41643 0 2.47093E-5
2-44100999-A-G p.Met429Val missense ABCG8 15 83288 1.80098E-4 41644 0 4.3653E-4
2-44101016-C-T p.Leu434Leu synonymous ABCG8 1 83298 1.20051E-5 41649 0 NA
2-44101018-A-G p.Tyr435Cys missense ABCG8 2 83290 2.40125E-5 41645 0 1.19306E-5
2-44101020-T-C p.Phe436Leu missense ABCG8 1 83292 1.2006E-5 41646 0 3.18715E-5
2-44101021-T-C p.Phe436Ser missense ABCG8 2 83292 2.40119E-5 41646 0 3.9769E-6
2-44101024-G-T p.Gly437Val missense ABCG8 2 83298 2.40102E-5 41649 0 NA
2-44101029-G-A p.Gly439Arg missense ABCG8 1 83300 1.20048E-5 41650 0 8.23642E-6
2-44101034-C-T p.Ser440Ser synonymous ABCG8 4 83294 4.80227E-5 41647 0 6.37349E-5
2-44101035-A-T p.Ile441Phe missense ABCG8 2 83290 2.40125E-5 41645 0 NA
2-44101038-C-T p.Gln442* stop_gained ABCG8 1 83288 1.20065E-5 41644 0 1.64728E-5
2-44101040-G-A p.Gln442Gln synonymous ABCG8 4 83280 4.80307E-5 41640 1 NA
2-44101047-T-C p.Phe445Leu missense ABCG8 1 83284 1.20071E-5 41642 0 8.23642E-6
2-44101056-A-G p.Thr448Ala missense ABCG8 1 83270 1.20091E-5 41635 0 8.23642E-6
2-44101058-A-C p.Thr448Thr synonymous ABCG8 1 83262 1.20103E-5 41631 0 NA
2-44101061-C-T p.Ala449Ala synonymous ABCG8 5 83244 6.00644E-5 41622 0 2.23115E-4
2-44101062-G-A p.Ala450Thr missense ABCG8 4 83240 4.80538E-5 41620 0 6.37714E-5
2-44101063-C-A p.Ala450Asp missense ABCG8 1 83238 1.20137E-5 41619 0 NA
2-44101066-T-G p.Leu451Arg missense ABCG8 1 83254 1.20114E-5 41627 0 NA
2-44101067-C-T p.Leu451Leu synonymous ABCG8 2 83256 2.40223E-5 41628 0 6.58913E-5
2-44101070-G-T p.Leu452Phe missense ABCG8 3 83232 3.60438E-5 41616 0 1.64731E-5
2-44101072-T-A p.Phe453Tyr missense ABCG8 2 83236 2.40281E-5 41618 0 8.23655E-6
2-44101079-C-T p.Ile455Ile synonymous ABCG8 213 83212 0.00255973 41606 1 0.00675805
2-44101080-G-C p.Gly456Arg missense ABCG8 1 83208 1.20181E-5 41604 0 NA
2-44101099-A-G p.Asn462Ser missense ABCG8 3 83130 3.60881E-5 41565 0 3.1904E-5
2-44101100-C-T p.Asn462Asn synonymous ABCG8 25 83124 3.00755E-4 41562 2 0.00151057
2-44101122-A-G p.Lys470Glu missense ABCG8 3 82956 3.61638E-5 41478 0 NA
2-44101126-G-T c.1411+1G>T splice_donor ABCG8 4 82936 4.823E-5 41468 0 1.27372E-4
2-44101130-G-A c.1411+5G>A splice_region ABCG8 1 82890 1.20642E-5 41445 0 NA
2-44101133-T-A c.1411+8T>A splice_region ABCG8 41 82844 4.94906E-4 41422 0 0.00105082
2-44101537-A-AT c.1412-9_1412-8insT splice_region ABCG8 14223 82268 0.172886 41134 1299 0.191126
2-44101537-A-ATT c.1412-9_1412-8insTT splice_region ABCG8 7 82578 8.47683E-5 41289 0 3.19959E-5
2-44101538-C-T c.1412-8C>T splice_region ABCG8 49888 79638 0.626435 39819 15942 0.67676
2-44101538-C-G c.1412-8C>G splice_region ABCG8 1 82602 1.21062E-5 41301 0 NA
2-44101539-T-A c.1412-7T>A splice_region ABCG8 2 82668 2.41932E-5 41334 0 6.43791E-5
2-44101550-C-T p.Tyr472Tyr synonymous ABCG8 17 82750 2.05438E-4 41375 0 3.82897E-4
2-44101556-G-A p.Glu474Glu synonymous ABCG8 1 82824 1.20738E-5 41412 0 3.97693E-6
2-44101558-G-A p.Arg475Lys missense ABCG8 1 82822 1.20741E-5 41411 0 3.18918E-5
2-44101560-G-C p.Ala476Pro missense ABCG8 1 82826 1.20735E-5 41413 0 NA
2-44101563-A-G p.Met477Val missense ABCG8 1 82812 1.20755E-5 41406 0 8.23683E-6
2-44101570-A-G p.Tyr479Cys missense ABCG8 33 82850 3.9831E-4 41425 0 5.17014E-4
2-44101574-T-C p.Tyr480Tyr synonymous ABCG8 1 82868 1.20674E-5 41434 0 8.23683E-6
2-44101577-AC-A p.Leu482fs frameshift ABCG8 6 82884 7.23903E-5 41442 0 0.00100705
2-44101591-TG-T p.Tyr487fs frameshift ABCG8 1 82834 1.20723E-5 41417 0 NA
2-44101596-A-G p.Thr488Ala missense ABCG8 3 82826 3.62205E-5 41413 0 2.78416E-5
2-44101597-C-A p.Thr488Asn missense ABCG8 3 82832 3.62179E-5 41416 0 3.18756E-5
2-44101604-T-C p.Gly490Gly synonymous ABCG8 1 82766 1.20823E-5 41383 0 1.64734E-5
2-44101607-A-G p.Pro491Pro synonymous ABCG8 22 82742 2.65887E-4 41371 0 2.87375E-4
2-44101609-ATTTCT-A p.Phe493fs frameshift ABCG8 1 82700 1.20919E-5 41350 0 NA
2-44101610-T-A p.Tyr492* stop_gained ABCG8 2 82722 2.41774E-5 41361 0 5.76568E-5
2-44101615-T-C p.Phe494Ser missense ABCG8 2 82698 2.41844E-5 41349 0 NA
2-44101620-A-G p.Lys496Glu missense+splice_region ABCG8 7 82658 8.46863E-5 41329 0 1.55153E-4
2-44101621-A-T p.Lys496Met missense+splice_region ABCG8 3 82664 3.62915E-5 41332 0 1.19349E-5
2-44101625-G-C c.1488+3G>C splice_region ABCG8 1 82606 1.21057E-5 41303 0 NA
2-44101627-C-T c.1488+5C>T splice_region ABCG8 2 82560 2.42248E-5 41280 0 1.0129E-4
2-44102280-T-C c.1489-5T>C splice_region ABCG8 5 82200 6.08272E-5 41100 0 6.25E-4
2-44102281-G-A c.1489-4G>A splice_region ABCG8 2 82200 2.43309E-5 41100 0 3.18451E-5
2-44102290-C-T p.Leu498Leu synonymous ABCG8 3 82336 3.64361E-5 41168 0 2.47472E-5
2-44102291-G-A p.Gly499Arg missense ABCG8 2 82396 2.4273E-5 41198 0 1.15462E-4
2-44102292-G-C p.Gly499Ala missense ABCG8 2 82402 2.42713E-5 41201 0 NA
2-44102297-C-T p.Leu501Phe missense ABCG8 1 82448 1.21289E-5 41224 0 NA
2-44102301-C-T p.Pro502Leu missense ABCG8 6 82480 7.27449E-5 41240 0 3.20172E-5
2-44102302-G-A p.Pro502Pro synonymous ABCG8 449 82496 0.00544269 41248 1 0.0112641
2-44102303-G-A p.Glu503Lys missense ABCG8 2 82504 2.42412E-5 41252 0 9.55718E-5
2-44102326-C-G p.Ile510Met missense ABCG8 1 82630 1.21021E-5 41315 0 NA
2-44102329-C-T p.Tyr511Tyr synonymous ABCG8 1 82584 1.21089E-5 41292 0 8.2428E-6
2-44102330-G-A p.Gly512Arg missense ABCG8 2 82606 2.42113E-5 41303 0 2.39615E-5
2-44102345-T-C p.Trp517Arg missense ABCG8 3 82654 3.62959E-5 41327 0 6.59467E-5
2-44102354-A-C p.Asn520His missense ABCG8 1 82620 1.21036E-5 41310 0 NA
2-44102364-C-T p.Pro523Leu missense ABCG8 16 82684 1.93508E-4 41342 1 6.84209E-4
2-44102365-A-G p.Pro523Pro synonymous ABCG8 6 82702 7.25496E-5 41351 0 0.00100705
2-44102374-G-A p.Gln526Gln synonymous ABCG8 1 82780 1.20802E-5 41390 0 NA
2-44102392-C-T p.Phe532Phe synonymous ABCG8 2 82934 2.41156E-5 41467 0 6.36862E-5
2-44102401-G-A p.Val535Val synonymous ABCG8 2 82996 2.40975E-5 41498 0 NA
2-44102404-G-A p.Trp536* stop_gained ABCG8 2 83018 2.40912E-5 41509 0 3.18471E-5
2-44102415-T-C p.Phe540Ser missense ABCG8 1 82948 1.20557E-5 41474 0 3.18634E-5
2-44102424-G-A p.Arg543Lys missense ABCG8 1 83056 1.20401E-5 41528 0 NA
2-44102425-G-T p.Arg543Ser missense ABCG8 22 83068 2.64843E-4 41534 0 2.30798E-4
2-44102439-C-T p.Ala548Val missense ABCG8 1 83080 1.20366E-5 41540 0 8.24239E-6
2-44102440-C-T p.Ala548Ala synonymous ABCG8 2 83102 2.40668E-5 41551 0 4.94552E-5
2-44102441-G-A p.Ala549Thr missense ABCG8 35 83060 4.21382E-4 41530 0 7.33091E-4
2-44102443-C-T p.Ala549Ala synonymous ABCG8 10 83106 1.20328E-4 41553 0 1.07476E-4
2-44102444-G-A p.Ala550Thr missense ABCG8 25 83094 3.00864E-4 41547 0 0.00453172
2-44102445-C-T p.Ala550Val missense ABCG8 2 83118 2.40622E-5 41559 0 1.64842E-5
2-44102446-G-A p.Ala550Ala synonymous ABCG8 8 83120 9.62464E-5 41560 0 0.00125
2-44102448-C-T p.Ala551Val missense ABCG8 1 83134 1.20288E-5 41567 0 NA
2-44102449-C-A p.Ala551Ala synonymous ABCG8 1 83140 1.20279E-5 41570 0 NA
2-44102452-G-A p.Leu552Leu synonymous ABCG8 39 83148 4.69043E-4 41574 0 9.23743E-4
2-44102452-G-T p.Leu552Leu synonymous ABCG8 1 83150 1.20265E-5 41575 0 8.24226E-6
2-44102461-C-G p.Thr555Thr synonymous ABCG8 2 83186 2.40425E-5 41593 0 8.24239E-6
2-44102463-T-C p.Phe556Ser missense ABCG8 18 83194 2.16362E-4 41597 0 8.90076E-4
2-44102465-C-G p.His557Asp missense ABCG8 1 83198 1.20195E-5 41599 0 NA
2-44102469-T-A p.Met558Lys missense ABCG8 1 83212 1.20175E-5 41606 0 5.17298E-5
2-44102471-G-T p.Ala559Ser missense ABCG8 3 83210 3.60534E-5 41605 0 3.97959E-6
2-44102491-C-T p.Ala565Ala synonymous ABCG8 13477 82778 0.162809 41389 1165 0.172205
2-44102502-CCTT-C p.Phe570del disruptive_inframe_deletion ABCG8 2 83162 2.40494E-5 41581 0 4.95737E-5
2-44102508-A-G p.Tyr571Cys missense ABCG8 1 83034 1.20433E-5 41517 0 NA
2-44102509-C-T p.Tyr571Tyr synonymous ABCG8 1 83076 1.20372E-5 41538 0 3.30808E-5
2-44102511-T-C p.Leu572Pro missense ABCG8 8 83012 9.63716E-5 41506 0 1.07536E-4
2-44102512-C-T p.Leu572Leu synonymous ABCG8 131 83000 0.00157831 41500 0 0.00401351
2-44102515-C-T p.Ala573Ala synonymous ABCG8 4 83004 4.81904E-5 41502 0 3.98788E-5
2-44102516-G-A p.Gly574Arg missense ABCG8 5 83000 6.0241E-5 41500 0 6.38279E-5
2-44102517-GGG-AGC p.GlyGly574GluArg missense ABCG8 1 82984 1.20505E-5 41492 0 NA
2-44102520-G-A p.Gly575Asp missense ABCG8 2 82942 2.41132E-5 41471 0 2.39275E-5
2-44102532-A-T p.Asn579Ile missense ABCG8 2 82792 2.41569E-5 41396 0 9.56572E-5
2-44102533-C-A p.Asn579Lys missense ABCG8 1 82808 1.20761E-5 41404 0 NA
2-44102539-C-A p.Ser581Arg missense ABCG8 4 82696 4.83699E-5 41348 0 3.18431E-5
2-44102548-G-C p.Trp584Cys missense ABCG8 17 82522 2.06006E-4 41261 0 6.36983E-5
2-44102549-A-T p.Thr585Ser missense ABCG8 8 82490 9.69815E-5 41245 0 2.54891E-4
2-44102550-C-T p.Thr585Ile missense+splice_region ABCG8 1 82480 1.21242E-5 41240 0 6.36943E-5
2-44102552-G-T p.Val586Leu missense+splice_region ABCG8 2 82452 2.42565E-5 41226 0 1.20393E-5
2-44102554-T-C c.1756+2T>C splice_donor ABCG8 1 82418 1.21333E-5 41209 0 NA
2-44102555-A-C c.1756+3A>C splice_region ABCG8 1 82400 1.21359E-5 41200 0 NA
2-44102558-G-T c.1756+6G>T splice_region ABCG8 11 82278 1.33693E-4 41139 0 9.26575E-5
2-44102558-G-C c.1756+6G>C splice_region ABCG8 1 82278 1.21539E-5 41139 0 3.35402E-5
2-44102560-C-G c.1756+8C>G splice_region ABCG8 1 82226 1.21616E-5 41113 0 NA
2-44104694-C-T c.1757-6C>T splice_region ABCG8 1 83098 1.2034E-5 41549 0 3.97655E-6
2-44104706-C-A p.Ala588Glu missense ABCG8 13 83232 1.5619E-4 41616 0 1.27632E-4
2-44104725-C-T p.Ser594Ser synonymous ABCG8 133 83342 0.00159583 41671 0 0.00366826
2-44104728-C-T p.Phe595Phe synonymous ABCG8 103 83346 0.00123581 41673 0 0.00250313
2-44104732-C-A p.Arg597Arg synonymous ABCG8 1 83354 1.1997E-5 41677 0 NA
2-44104733-G-A p.Arg597Gln missense ABCG8 1 83354 1.1997E-5 41677 0 8.23655E-6
2-44104750-C-G p.Leu603Val missense ABCG8 1 83356 1.19967E-5 41678 0 1.19306E-5
2-44104758-G-A p.Lys605Lys synonymous ABCG8 4 83360 4.79846E-5 41680 0 6.25E-4
2-44104764-G-A p.Gln607Gln synonymous ABCG8 2 83354 2.3994E-5 41677 0 8.23642E-6
2-44104770-CAGA-C p.Arg611del disruptive_inframe_deletion ABCG8 9 83358 1.07968E-4 41679 0 5.74126E-4
2-44104775-G-A p.Arg611Lys missense ABCG8 1 83358 1.19964E-5 41679 0 3.18817E-5
2-44104780-T-C p.Tyr613His missense ABCG8 6 83360 7.1977E-5 41680 0 0.00125
2-44104782-T-C p.Tyr613Tyr synonymous ABCG8 39 83358 4.67862E-4 41679 0 8.2887E-4
2-44104788-G-C p.Met615Ile missense ABCG8 9 83346 1.07984E-4 41673 0 1.27486E-4
2-44104789-C-T p.Pro616Ser missense ABCG8 3 83350 3.59928E-5 41675 0 1.59067E-5
2-44104794-C-A p.Leu617Leu synonymous ABCG8 2 83350 2.39952E-5 41675 0 NA
2-44104795-G-A p.Gly618Arg missense ABCG8 2 83350 2.39952E-5 41675 0 3.18918E-5
2-44104801-C-A p.Leu620Ile missense ABCG8 5 83356 5.99837E-5 41678 0 6.37552E-5
2-44104815-C-G p.Val624Val synonymous ABCG8 3 83354 3.59911E-5 41677 0 NA
2-44104820-G-T p.Gly626Val missense ABCG8 3 83352 3.59919E-5 41676 0 1.59408E-4
2-44104824-T-G p.Asp627Glu missense ABCG8 1 83352 1.19973E-5 41676 0 3.97646E-6
2-44104827-A-G p.Lys628Lys splice_region+synonymous ABCG8 1 83356 1.19967E-5 41678 0 1.64728E-5
2-44104833-CG-C c.1884+7delG splice_region ABCG8 3 83348 3.59937E-5 41674 0 1.98829E-5
2-44104835-G-A c.1884+8G>A splice_region ABCG8 1 83344 1.19985E-5 41672 0 2.14736E-4
2-44104923-T-G p.Ser631Arg missense ABCG8 1 83312 1.20031E-5 41656 0 NA
2-44104924-G-A p.Val632Ile missense ABCG8 7 83304 8.40296E-5 41652 0 5.03525E-4
2-44104925-T-C p.Val632Ala missense ABCG8 69236 83120 0.832964 41560 29026 0.884693
2-44104952-A-T p.Tyr641Phe missense ABCG8 11 83288 1.32072E-4 41644 0 3.95394E-4
2-44104953-C-T p.Tyr641Tyr synonymous ABCG8 1 83284 1.20071E-5 41642 0 4.94242E-5
2-44104954-G-A p.Ala642Thr missense ABCG8 106 83276 0.00127288 41638 0 0.00103811
2-44104956-C-T p.Ala642Ala synonymous ABCG8 1 83280 1.20077E-5 41640 0 NA
2-44104957-A-G p.Ile643Val missense ABCG8 1 83284 1.20071E-5 41642 0 3.18715E-5
2-44104966-A-G p.Ile646Val missense ABCG8 1 83276 1.20083E-5 41638 0 3.97747E-6
2-44104971-C-G p.Val647Val synonymous ABCG8 113 83264 0.00135713 41632 0 0.0025
2-44104971-C-T p.Val647Val synonymous ABCG8 1 83266 1.20097E-5 41633 0 NA
2-44104973-T-C p.Ile648Thr missense ABCG8 2 83258 2.40217E-5 41629 0 NA
2-44104974-T-G p.Ile648Met missense ABCG8 1 83262 1.20103E-5 41631 0 3.18654E-5
2-44104977-C-T p.Gly649Gly synonymous ABCG8 2 83242 2.40263E-5 41621 0 NA
2-44104993-A-G p.Met655Val missense ABCG8 204 83244 0.00245063 41622 1 0.00443155
2-44105004-C-G p.Tyr658* stop_gained ABCG8 13 83258 1.56141E-4 41629 0 3.18613E-5
2-44105012-C-T p.Ser661Phe missense ABCG8 1 83246 1.20126E-5 41623 0 NA
2-44105024-T-G p.Ile665Ser missense ABCG8 1 83226 1.20155E-5 41613 0 NA
2-44105035-C-G p.Pro669Ala missense ABCG8 1 83206 1.20184E-5 41603 0 NA
2-44105043-A-G p.Gln671Gln synonymous ABCG8 1 83186 1.20213E-5 41593 0 6.3743E-5