Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-44040258-C-G p.Arg651Ser missense ABCG5 1 78962 1.26643E-5 39481 0 NA
2-44040268-A-C p.Leu648Arg missense ABCG5 2 80082 2.49744E-5 40041 0 8.64708E-6
2-44040295-A-G p.Ile639Thr missense ABCG5 1 81642 1.22486E-5 40821 0 NA
2-44040301-A-G p.Leu637Pro missense ABCG5 2 81848 2.44355E-5 40924 0 1.69431E-5
2-44040320-TA-T p.Phe630fs frameshift ABCG5 1 82324 1.21471E-5 41162 0 1.99472E-5
2-44040325-G-C p.Ser629* stop_gained ABCG5 2 82382 2.42771E-5 41191 0 6.36902E-5
2-44040341-A-G p.Phe624Leu missense ABCG5 31 82466 3.75912E-4 41233 0 5.89553E-4
2-44040347-T-C p.Met622Val missense ABCG5 699 82480 0.00847478 41240 5 0.0176234
2-44040359-A-G p.Ser618Pro missense ABCG5 3 82546 3.63434E-5 41273 0 1.1967E-5
2-44040367-C-T p.Gly615Asp missense ABCG5 1 82576 1.21101E-5 41288 0 1.68251E-5
2-44040371-G-A p.Pro614Ser missense ABCG5 1 82606 1.21057E-5 41303 0 8.41043E-6
2-44040378-T-C p.Lys611Lys synonymous ABCG5 1 82658 1.2098E-5 41329 0 2.52377E-5
2-44040383-C-T p.Glu610Lys missense ABCG5 1 82682 1.20945E-5 41341 0 8.41751E-6
2-44040386-T-C p.Ile609Val missense ABCG5 1 82704 1.20913E-5 41352 0 1.68384E-5
2-44040401-G-C p.Gln604Glu missense ABCG5 15550 82426 0.188654 41213 1612 0.2425
2-44040405-G-A p.Phe602Phe synonymous ABCG5 126 82792 0.00152189 41396 1 9.12387E-4
2-44040410-C-T p.Ala601Thr missense ABCG5 1 82804 1.20767E-5 41402 0 NA
2-44040412-C-T p.Cys600Tyr missense ABCG5 1 82796 1.20779E-5 41398 0 3.18451E-5
2-44040425-T-C p.Thr596Ala missense ABCG5 1 82792 1.20785E-5 41396 0 6.36821E-5
2-44040439-T-A p.Asn591Ile missense ABCG5 1 82786 1.20793E-5 41393 0 NA
2-44040449-C-T c.1763-1G>A splice_acceptor ABCG5 1 82694 1.20928E-5 41347 0 4.05223E-6
2-44040455-A-C c.1763-7T>G splice_region ABCG5 86 82620 0.00104091 41310 0 0.00229256
2-44041620-A-G p.Thr586Thr synonymous ABCG5 5 82364 6.07061E-5 41182 0 6.36699E-5
2-44041629-C-G p.Leu583Leu synonymous ABCG5 1 82432 1.21312E-5 41216 0 NA
2-44041634-C-T p.Gly582Arg missense ABCG5 45 82444 5.45825E-4 41222 0 0.00114664
2-44041645-T-C p.Asn578Ser missense ABCG5 3 82548 3.63425E-5 41274 0 5.04032E-4
2-44041647-G-T p.Val577Val synonymous ABCG5 1 82590 1.2108E-5 41295 0 NA
2-44041651-A-G p.Val576Ala missense ABCG5 5 82588 6.05415E-5 41294 0 5.04032E-4
2-44041655-G-C p.Leu575Val missense ABCG5 2 82642 2.42008E-5 41321 0 8.26925E-6
2-44041682-T-C p.Thr566Ala missense ABCG5 1 82600 1.21065E-5 41300 0 NA
2-44041692-G-T p.Ile562Ile synonymous ABCG5 2 82538 2.42313E-5 41269 0 1.65601E-5
2-44041695-G-A p.Ile561Ile synonymous ABCG5 1 82512 1.21194E-5 41256 0 8.28473E-6
2-44041706-G-C p.Pro558Ala missense ABCG5 1 82344 1.21442E-5 41172 0 1.66124E-5
2-44041711-G-A p.Pro556Leu missense ABCG5 2 82234 2.43208E-5 41117 0 3.9961E-6
2-44041723-A-G p.Ile552Thr missense ABCG5 1 81966 1.22002E-5 40983 0 4.00596E-6
2-44047051-T-TA c.1649+2_1649+3insT splice_donor ABCG5 1 83256 1.20111E-5 41628 0 NA
2-44047054-C-G p.Arg550Thr missense+splice_region ABCG5 1 83278 1.2008E-5 41639 0 NA
2-44047065-A-G p.Ser546Ser synonymous ABCG5 1 83296 1.20054E-5 41648 0 NA
2-44047079-C-A p.Val542Leu missense ABCG5 1 83326 1.20011E-5 41663 0 NA
2-44047083-C-T p.Ala540Ala synonymous ABCG5 1 83332 1.20002E-5 41666 0 6.37146E-5
2-44047083-C-G p.Ala540Ala synonymous ABCG5 1 83332 1.20002E-5 41666 0 3.18573E-5
2-44047084-G-A p.Ala540Val missense ABCG5 1 83336 1.19996E-5 41668 0 1.19319E-5
2-44047087-A-G p.Ile539Thr missense ABCG5 3 83338 3.5998E-5 41669 0 3.97712E-6
2-44047095-C-G p.Leu536Leu synonymous ABCG5 1 83342 1.19988E-5 41671 0 NA
2-44047100-C-T p.Ala535Thr missense ABCG5 1 83334 1.19999E-5 41667 0 7.95406E-6
2-44047104-T-A p.Val533Val synonymous ABCG5 2 83340 2.39981E-5 41670 0 NA
2-44047108-C-T p.Ser532Asn missense ABCG5 1 83338 1.19993E-5 41669 0 NA
2-44047119-A-G p.Asn528Asn synonymous ABCG5 2 83336 2.39992E-5 41668 0 8.23832E-6
2-44047133-C-T p.Val524Ile missense ABCG5 6 83338 7.1996E-5 41669 0 1.07392E-4
2-44047134-G-A p.Ile523Ile synonymous ABCG5 6 83342 7.19925E-5 41671 0 2.38652E-5
2-44047136-T-C p.Ile523Val missense ABCG5 127 83336 0.00152395 41668 0 0.00251576
2-44047143-T-C p.Leu520Leu synonymous ABCG5 1 83342 1.19988E-5 41671 0 3.97744E-6
2-44047148-C-G p.Val519Leu missense ABCG5 1 83348 1.19979E-5 41674 0 3.18431E-5
2-44047150-A-C p.Leu518Arg missense ABCG5 1 83344 1.19985E-5 41672 0 NA
2-44047153-G-C p.Thr517Ser missense ABCG5 364 83342 0.00436755 41671 3 0.0107616
2-44047154-T-G p.Thr517Pro missense ABCG5 1 83344 1.19985E-5 41672 0 NA
2-44047166-C-G p.Gly513Arg missense ABCG5 1 83346 1.19982E-5 41673 0 NA
2-44047168-A-G p.Ile512Thr missense ABCG5 3 83344 3.59954E-5 41672 0 6.59794E-5
2-44047169-T-C p.Ile512Val missense ABCG5 1 83338 1.19993E-5 41669 0 NA
2-44047174-T-TG p.His510fs frameshift ABCG5 2 83328 2.40015E-5 41664 0 NA
2-44047175-G-A p.His510Tyr missense ABCG5 1 83336 1.19996E-5 41668 0 NA
2-44047175-G-T p.His510Asn missense ABCG5 7 83336 8.39973E-5 41668 0 4.49526E-4
2-44047179-G-T p.Ala508Ala synonymous ABCG5 3 83340 3.59971E-5 41670 0 NA
2-44047181-C-T p.Ala508Thr missense ABCG5 5 83336 5.99981E-5 41668 0 8.26037E-6
2-44047189-G-T p.Ala505Asp missense ABCG5 1 83332 1.20002E-5 41666 0 NA
2-44047202-A-G p.Tyr501His missense ABCG5 15 83302 1.80068E-4 41651 1 3.97959E-6
2-44047203-T-C p.Gly500Gly synonymous ABCG5 4 83302 4.80181E-5 41651 0 9.20394E-5
2-44047214-C-T p.Ala497Thr missense ABCG5 1 83264 1.201E-5 41632 0 NA
2-44047224-A-G p.His493His synonymous ABCG5 1 83202 1.20189E-5 41601 0 NA
2-44047236-C-T p.Thr489Thr synonymous ABCG5 2 83104 2.40662E-5 41552 0 4.00603E-5
2-44047237-G-A p.Thr489Met missense+splice_region ABCG5 8 83104 9.62649E-5 41552 0 6.25E-4
2-44049931-C-T c.1463+5G>A splice_region ABCG5 1 83054 1.20404E-5 41527 0 6.37024E-5
2-44049947-A-C p.Ser484Arg missense ABCG5 2 83088 2.40709E-5 41544 0 3.97918E-6
2-44049951-C-T p.Ser483Asn missense ABCG5 1 83090 1.20351E-5 41545 0 8.2728E-6
2-44049953-G-A p.Phe482Phe synonymous ABCG5 2 83104 2.40662E-5 41552 0 1.19383E-5
2-44049973-C-T p.Val476Ile missense ABCG5 1 83136 1.20285E-5 41568 0 8.27582E-6
2-44049974-G-A p.Ser475Ser synonymous ABCG5 7 83134 8.42014E-5 41567 0 5.96963E-5
2-44049975-C-T p.Ser475Asn missense ABCG5 2 83154 2.40518E-5 41577 0 NA
2-44049986-G-T p.Val471Val synonymous ABCG5 1 83150 1.20265E-5 41575 0 NA
2-44049988-C-T p.Val471Ile missense ABCG5 17 83136 2.04484E-4 41568 0 0.00125
2-44049989-G-A p.His470His synonymous ABCG5 8 83134 9.62302E-5 41567 0 1.27429E-4
2-44049994-G-C p.Leu469Val missense ABCG5 1 83126 1.20299E-5 41563 0 NA
2-44049996-G-A p.Ala468Val missense ABCG5 1 83130 1.20294E-5 41565 0 3.18532E-5
2-44050001-G-A p.Ala466Ala synonymous ABCG5 3 83144 3.6082E-5 41572 0 4.97975E-5
2-44050003-C-G p.Ala466Pro missense ABCG5 2 83108 2.40651E-5 41554 0 NA
2-44050014-T-C p.Gln462Arg missense ABCG5 1 83098 1.2034E-5 41549 0 NA
2-44050018-A-G p.Trp461Arg missense ABCG5 2 83090 2.40703E-5 41545 0 3.98118E-6
2-44050031-G-A p.Gly456Gly synonymous ABCG5 2 83010 2.40935E-5 41505 0 0.00100806
2-44050033-C-T p.Gly456Ser missense ABCG5 3 83004 3.61428E-5 41502 0 2.76201E-4
2-44050034-G-A p.Asp455Asp synonymous ABCG5 61 82986 7.35064E-4 41493 1 0.0025
2-44050041-C-G p.Ser453Thr missense ABCG5 1 82944 1.20563E-5 41472 0 4.78E-5
2-44050051-C-T p.Asp450Asn missense ABCG5 2 82840 2.41429E-5 41420 0 1.01198E-4
2-44050052-G-A p.Ser449Ser synonymous ABCG5 16 82814 1.93204E-4 41407 0 4.8098E-4
2-44050062-C-T p.Arg446Gln missense ABCG5 1 82748 1.20849E-5 41374 0 7.65762E-5
2-44050063-G-A p.Arg446* stop_gained ABCG5 16 82712 1.93442E-4 41356 0 0.0010101
2-44050063-G-C p.Arg446Gly missense ABCG5 1 82712 1.20901E-5 41356 0 1.70329E-5
2-44050067-C-T p.Val444Val synonymous ABCG5 1 82668 1.20966E-5 41334 0 3.98963E-6
2-44050069-C-T p.Val444Met missense ABCG5 2 82600 2.42131E-5 41300 0 5.13215E-5
2-44050070-G-A p.Pro443Pro synonymous ABCG5 6 82548 7.2685E-5 41274 0 6.25E-4
2-44050072-G-A p.Pro443Ser missense+splice_region ABCG5 1 82494 1.21221E-5 41247 0 NA
2-44050073-A-G p.Phe442Phe splice_region+synonymous ABCG5 2 82464 2.4253E-5 41232 0 4.28802E-5
2-44050076-T-C c.1325-2A>G splice_acceptor ABCG5 1 82430 1.21315E-5 41215 0 NA
2-44050078-G-C c.1325-4C>G splice_region ABCG5 1 82356 1.21424E-5 41178 0 8.62426E-6
2-44050078-G-A c.1325-4C>T splice_region ABCG5 1 82356 1.21424E-5 41178 0 9.55901E-5
2-44051065-G-A p.Asn437Asn synonymous ABCG5 2 83312 2.40061E-5 41656 0 1.65076E-4
2-44051072-A-G p.Met435Thr missense ABCG5 4 83320 4.80077E-5 41660 0 NA
2-44051078-G-A p.Thr433Ile missense ABCG5 1 83336 1.19996E-5 41668 0 3.97782E-6
2-44051083-C-T p.Pro431Pro synonymous ABCG5 4 83336 4.79985E-5 41668 0 4.94511E-5
2-44051084-G-A p.Pro431Leu missense ABCG5 1 83336 1.19996E-5 41668 0 8.24117E-6
2-44051092-G-A p.Gly428Gly synonymous ABCG5 57 83342 6.83929E-4 41671 0 0.00251762
2-44051099-A-T p.Phe426Tyr missense ABCG5 2 83364 2.39912E-5 41682 0 8.239E-6
2-44051103-G-A p.Gln425* stop_gained ABCG5 1 83372 1.19944E-5 41686 0 NA
2-44051105-T-G p.Tyr424Ser missense ABCG5 2 83378 2.39871E-5 41689 0 NA
2-44051113-A-G p.Gly421Gly synonymous ABCG5 1 83370 1.19947E-5 41685 0 NA
2-44051114-C-A p.Gly421Val missense ABCG5 1 83370 1.19947E-5 41685 0 NA
2-44051118-C-T p.Val420Ile missense ABCG5 1 83372 1.19944E-5 41686 0 5.03525E-4
2-44051119-G-A p.Arg419Arg synonymous ABCG5 2 83374 2.39883E-5 41687 0 6.36983E-5
2-44051121-G-A p.Arg419Cys missense ABCG5 3 83372 3.59833E-5 41686 0 6.25E-4
2-44051125-C-T p.Gln417Gln synonymous ABCG5 113 83374 0.00135534 41687 0 0.00251762
2-44051126-T-C p.Gln417Arg missense ABCG5 2 83374 2.39883E-5 41687 0 7.95286E-6
2-44051133-CA-C p.Ala415fs frameshift ABCG5 1 83364 1.19956E-5 41682 0 NA
2-44051137-C-A p.Lys413Asn missense ABCG5 1 83370 1.19947E-5 41685 0 4.94234E-5
2-44051148-T-G p.Asn410His missense ABCG5 184 83366 0.00220713 41683 1 0.00401223
2-44051148-T-C p.Asn410Asp missense ABCG5 10 83368 1.1995E-4 41684 0 3.18431E-5
2-44051157-C-A p.Val407Phe missense ABCG5 1 83368 1.1995E-5 41684 0 NA
2-44051159-C-T p.Arg406Gln missense ABCG5 1 83370 1.19947E-5 41685 0 4.11862E-5
2-44051160-G-A p.Arg406Trp missense ABCG5 3 83370 3.59842E-5 41685 0 3.97646E-5
2-44051171-A-G p.Phe402Ser missense ABCG5 3 83358 3.59893E-5 41679 0 4.77156E-5
2-44051173-A-G p.Leu401Leu synonymous ABCG5 2 83356 2.39935E-5 41678 0 NA
2-44051180-A-C p.Phe399Cys missense ABCG5 1 83352 1.19973E-5 41676 0 7.95254E-6
2-44051187-C-T p.Gly397Ser missense ABCG5 2 83350 2.39952E-5 41675 0 2.38578E-5
2-44051190-T-G p.Met396Leu missense ABCG5 1 83354 1.1997E-5 41677 0 NA
2-44051196-G-A c.-6C>T 5_prime_UTR_premature_start_codon_gain ABCG5 6 83360 7.1977E-5 41680 0 5.03525E-4
2-44051197-A-G p.Asn393Asn synonymous ABCG5 1 83354 1.1997E-5 41677 0 2.47113E-5
2-44051205-G-A p.Leu391Phe missense ABCG5 9 83346 1.07984E-4 41673 0 3.18593E-4
2-44051205-G-T p.Leu391Ile missense ABCG5 1 83346 1.19982E-5 41673 0 NA
2-44051212-C-T p.Thr388Thr synonymous ABCG5 1 83338 1.19993E-5 41669 0 6.37064E-5
2-44051213-G-A p.Thr388Met missense ABCG5 14 83338 1.67991E-4 41669 0 1.89472E-4
2-44051219-A-C p.Val386Gly missense ABCG5 2 83338 2.39987E-5 41669 0 NA
2-44051236-C-T p.Val380Val synonymous ABCG5 1 83328 1.20008E-5 41664 0 3.97757E-6
2-44051245-T-G p.Arg377Ser missense ABCG5 2 83316 2.4005E-5 41658 0 NA
2-44051248-T-G p.Thr376Thr synonymous ABCG5 2 83320 2.40038E-5 41660 0 1.98942E-5
2-44051260-GA-G c.1119-4delT splice_region ABCG5 3 83312 3.60092E-5 41656 0 NA
2-44051261-AAAAC-A c.1119-8_1119-5delGTTT splice_region ABCG5 1 83312 1.20031E-5 41656 0 5.45202E-4
2-44051351-C-T c.1118+7G>A splice_region ABCG5 4 83304 4.80169E-5 41652 0 NA
2-44051357-C-G c.1118+1G>C splice_donor ABCG5 2 83306 2.40079E-5 41653 0 NA
2-44051363-G-A p.Leu371Leu synonymous ABCG5 1 83310 1.20034E-5 41655 0 8.24593E-6
2-44051369-AC-A p.Gly369fs frameshift ABCG5 1 83310 1.20034E-5 41655 0 3.97722E-6
2-44051370-C-A p.Gly369Val missense ABCG5 1 83314 1.20028E-5 41657 0 7.95463E-6
2-44051394-G-C p.Ser361Cys missense ABCG5 1 83308 1.20036E-5 41654 0 7.95336E-6
2-44051413-G-C p.Pro355Ala missense ABCG5 1 83312 1.20031E-5 41656 0 6.25E-4
2-44051426-C-T p.Thr350Thr synonymous ABCG5 1 83308 1.20036E-5 41654 0 9.55353E-5
2-44051427-G-A p.Thr350Met missense ABCG5 4 83312 4.80123E-5 41656 0 0.00251762
2-44051427-G-C p.Thr350Arg missense ABCG5 1 83312 1.20031E-5 41656 0 NA
2-44051433-A-C p.Leu348Arg missense ABCG5 2 83302 2.4009E-5 41651 0 3.18431E-5
2-44051448-T-C p.Glu343Gly missense ABCG5 1 83310 1.20034E-5 41655 0 NA
2-44051461-A-C p.Leu339Val missense ABCG5 1 83298 1.20051E-5 41649 0 3.18492E-5
2-44051475-A-G p.Ile334Thr missense ABCG5 2 83304 2.40085E-5 41652 0 3.97931E-6
2-44051489-G-T p.Tyr329* stop_gained ABCG5 3 83298 3.60153E-5 41649 0 3.98035E-6
2-44051489-G-A p.Tyr329Tyr synonymous ABCG5 1 83298 1.20051E-5 41649 0 3.98035E-6
2-44051501-T-C p.Ile325Met missense ABCG5 2 83292 2.40119E-5 41646 0 3.1837E-5
2-44051514-C-T p.Arg321Lys missense ABCG5 1 83300 1.20048E-5 41650 0 3.98187E-6
2-44051518-T-C p.Lys320Glu missense ABCG5 1 83310 1.20034E-5 41655 0 8.26132E-6
2-44051519-G-A p.Ser319Ser synonymous ABCG5 46 83304 5.52194E-4 41652 0 0.0014645
2-44051526-T-G p.Glu317Ala missense ABCG5 1 83308 1.20036E-5 41654 0 NA
2-44051535-C-T p.Arg314Gln missense ABCG5 1 83308 1.20036E-5 41654 0 2.38914E-5
2-44051559-G-GAC p.Ser306fs frameshift ABCG5 1 83296 1.20054E-5 41648 0 NA
2-44051561-C-T p.Thr305Thr synonymous ABCG5 4 83294 4.80227E-5 41647 0 6.25E-4
2-44051562-G-A p.Thr305Met missense ABCG5 5 83290 6.00312E-5 41645 0 6.25E-4
2-44051562-G-C p.Thr305Arg missense ABCG5 1 83290 1.20062E-5 41645 0 3.18888E-5
2-44051569-C-T p.Asp303Asn missense+splice_region ABCG5 1 83276 1.20083E-5 41638 0 3.98912E-6
2-44051573-T-TA c.905-3_905-2insT splice_region ABCG5 6 83254 7.20686E-5 41627 0 1.99097E-4
2-44051574-A-G c.905-3T>C splice_region ABCG5 5 83252 6.00586E-5 41626 0 6.36943E-5
2-44052022-A-G c.904+6T>C splice_region ABCG5 2 83330 2.4001E-5 41665 0 3.97763E-6
2-44052031-A-G p.Tyr301His missense ABCG5 2 83342 2.39975E-5 41671 0 1.19311E-5
2-44052032-G-C p.Phe300Leu missense ABCG5 2 83342 2.39975E-5 41671 0 3.30628E-5
2-44052035-G-A p.Asp299Asp synonymous ABCG5 55 83340 6.59947E-4 41670 0 0.001875
2-44052039-A-G p.Phe298Ser missense ABCG5 3 83344 3.59954E-5 41672 0 8.26173E-6
2-44052044-GT-G p.Asn296fs frameshift ABCG5 1 83342 1.19988E-5 41671 0 NA
2-44052049-A-C p.Ser295Ala missense ABCG5 2 83352 2.39946E-5 41676 0 NA
2-44052064-G-T p.Pro290Thr missense ABCG5 1 83356 1.19967E-5 41678 0 NA
2-44052070-C-G p.Gly288Arg missense ABCG5 1 83350 1.19976E-5 41675 0 1.65371E-5
2-44052070-C-T p.Gly288Ser missense ABCG5 1 83350 1.19976E-5 41675 0 3.57941E-5
2-44052070-C-A p.Gly288Cys missense ABCG5 1 83350 1.19976E-5 41675 0 8.26856E-6
2-44052071-G-A p.Cys287Cys synonymous ABCG5 2 83348 2.39958E-5 41674 0 4.13442E-5
2-44052071-G-T p.Cys287* stop_gained ABCG5 1 83348 1.19979E-5 41674 0 NA
2-44052078-T-C p.Asn285Ser missense ABCG5 1 83360 1.19962E-5 41680 0 6.25E-4
2-44052098-C-T p.Ala278Ala synonymous ABCG5 4 83346 4.79927E-5 41673 0 3.97836E-5
2-44052099-G-A p.Ala278Val missense ABCG5 6 83350 7.19856E-5 41675 0 0.00151057
2-44052099-G-T p.Ala278Glu missense ABCG5 1 83350 1.19976E-5 41675 0 NA
2-44052100-C-A p.Ala278Ser missense ABCG5 2 83346 2.39964E-5 41673 0 NA
2-44052104-C-T p.Thr276Thr synonymous ABCG5 1 83334 1.19999E-5 41667 0 7.49351E-5
2-44052105-G-A p.Thr276Met missense ABCG5 1 83326 1.20011E-5 41663 0 3.18492E-5
2-44052124-C-T p.Glu270Lys missense ABCG5 1 83282 1.20074E-5 41641 0 NA
2-44052127-C-T p.Gly269Arg missense ABCG5 1 83280 1.20077E-5 41640 0 3.18634E-5
2-44052128-G-A p.Phe268Phe synonymous ABCG5 5 83268 6.00471E-5 41634 0 3.36859E-5
2-44052132-C-T p.Ser267Asn missense ABCG5 1 83256 1.20111E-5 41628 0 NA
2-44052141-G-A p.Ala264Val missense ABCG5 4 83180 4.80885E-5 41590 0 8.49849E-5
2-44052147-T-C p.Lys262Arg missense ABCG5 486 83138 0.0058457 41569 4 0.0141428
2-44052152-A-G p.Phe260Phe synonymous ABCG5 1 83112 1.2032E-5 41556 0 5.03525E-4
2-44052157-G-A p.Leu259Phe missense+splice_region ABCG5 4 83056 4.81603E-5 41528 0 1.72455E-5
2-44052158-C-T c.775-1G>A splice_acceptor ABCG5 3 83048 3.61237E-5 41524 0 3.18451E-5
2-44052164-A-T c.775-7T>A splice_region ABCG5 10 82984 1.20505E-4 41492 0 9.55292E-5
2-44053515-T-A c.774+6A>T splice_region ABCG5 3 83226 3.60464E-5 41613 0 2.47292E-5
2-44053530-C-T p.Glu255Glu synonymous ABCG5 1 83306 1.20039E-5 41653 0 1.19299E-5
2-44053534-G-C p.Ser254Cys missense ABCG5 3 83322 3.60049E-5 41661 0 3.19632E-5
2-44053537-C-T p.Arg253His missense ABCG5 9 83320 1.08017E-4 41660 0 1.31822E-4
2-44053538-G-A p.Arg253Cys missense ABCG5 1 83340 1.1999E-5 41670 0 3.19611E-5
2-44053544-G-C p.Gln251Glu missense ABCG5 1 83348 1.19979E-5 41674 0 NA
2-44053544-G-A p.Gln251* stop_gained ABCG5 1 83348 1.19979E-5 41674 0 3.97636E-5
2-44053550-T-C p.Ile249Val missense ABCG5 1 83360 1.19962E-5 41680 0 3.19061E-5
2-44053554-G-A p.Leu247Leu synonymous ABCG5 1 83358 1.19964E-5 41679 0 8.23764E-6
2-44053559-C-A p.Val246Phe missense ABCG5 2 83352 2.39946E-5 41676 0 NA
2-44053564-A-G p.Ile244Thr missense ABCG5 1 83362 1.19959E-5 41681 0 5.04032E-4
2-44053568-G-A p.Arg243* stop_gained ABCG5 1 83352 1.19973E-5 41676 0 0.00100806
2-44053576-C-T p.Arg240His missense ABCG5 3 83344 3.59954E-5 41672 0 3.18939E-5
2-44053583-G-T p.Leu238Met missense ABCG5 1 83342 1.19988E-5 41671 0 1.64734E-5
2-44053598-C-T p.Val233Ile missense ABCG5 1 83340 1.1999E-5 41670 0 5.04032E-4
2-44053599-G-A p.Val232Val synonymous ABCG5 266 83328 0.0031922 41664 1 0.015625
2-44053601-C-T p.Val232Ile missense ABCG5 2 83336 2.39992E-5 41668 0 3.18573E-5
2-44053603-A-G p.Ile231Thr missense ABCG5 1 83318 1.20022E-5 41659 0 8.23683E-6
2-44053604-T-C p.Ile231Val missense ABCG5 1 83324 1.20013E-5 41662 0 NA
2-44053615-G-C p.Thr227Ser missense ABCG5 1 83292 1.2006E-5 41646 0 3.97643E-6
2-44053618-A-G p.Met226Thr missense ABCG5 1 83278 1.2008E-5 41639 0 3.97646E-6
2-44053637-T-C p.Thr220Ala missense ABCG5 3 83258 3.60326E-5 41629 0 3.18674E-5
2-44053639-G-C p.Pro219Arg missense ABCG5 1 83250 1.2012E-5 41625 0 3.18593E-5
2-44053653-C-T p.Met214Ile missense ABCG5 3 83230 3.60447E-5 41615 0 6.25E-4
2-44053659-C-T p.Lys212Lys splice_region+synonymous ABCG5 1 83190 1.20207E-5 41595 0 7.95564E-6
2-44055119-T-C c.634+3A>G splice_region ABCG5 11 83036 1.32473E-4 41518 1 2.23285E-4
2-44055119-T-G c.634+3A>C splice_region ABCG5 1 83036 1.2043E-5 41518 0 NA
2-44055122-T-C p.Lys212Glu missense+splice_region ABCG5 8 83070 9.63043E-5 41535 0 2.51446E-5
2-44055133-A-G p.Leu208Pro missense ABCG5 1 83088 1.20354E-5 41544 0 NA
2-44055134-G-T p.Leu208Ile missense ABCG5 1 83094 1.20346E-5 41547 0 8.35324E-6
2-44055135-C-T p.Leu207Leu synonymous ABCG5 1 83090 1.20351E-5 41545 0 1.67012E-5
2-44055147-G-T p.Ile203Ile synonymous ABCG5 2 83154 2.40518E-5 41577 0 8.32445E-6
2-44055153-G-C p.Val201Val synonymous ABCG5 1 83144 1.20273E-5 41572 0 NA
2-44055157-C-T p.Arg200Gln missense ABCG5 1 83134 1.20288E-5 41567 0 4.1551E-5
2-44055158-G-C p.Arg200Gly missense ABCG5 3 83152 3.60785E-5 41576 0 7.47409E-5
2-44055158-G-A p.Arg200Trp missense ABCG5 4 83152 4.81047E-5 41576 0 5.04032E-4
2-44055163-C-T p.Arg198Gln missense ABCG5 99 83132 0.00119088 41566 0 0.00184772
2-44055172-G-A p.Thr195Met missense ABCG5 1 83166 1.20241E-5 41583 0 0.00125
2-44055180-GC-G p.Gly192fs frameshift ABCG5 2 83170 2.40471E-5 41585 0 8.28212E-6
2-44055180-G-GCC p.Ile193fs frameshift ABCG5 1 83170 1.20236E-5 41585 0 NA
2-44055186-C-T p.Leu190Leu synonymous ABCG5 1 83200 1.20192E-5 41600 0 NA
2-44055190-C-G p.Ser189Thr missense ABCG5 7 83184 8.41508E-5 41592 0 3.18654E-5
2-44055192-G-A p.Tyr188Tyr synonymous ABCG5 2 83196 2.40396E-5 41598 0 8.26037E-6
2-44055193-T-C p.Tyr188Cys missense ABCG5 1 83192 1.20204E-5 41596 0 NA
2-44055194-A-G p.Tyr188His missense ABCG5 5 83190 6.01034E-5 41595 1 NA
2-44055201-A-C p.Ile185Met missense ABCG5 1 83202 1.20189E-5 41601 0 3.18281E-5
2-44055202-A-G p.Ile185Thr missense ABCG5 4 83204 4.80746E-5 41602 0 1.65199E-5
2-44055206-G-A c.-152C>T 5_prime_UTR_premature_start_codon_gain ABCG5 10 83194 1.20201E-4 41597 0 8.75378E-5
2-44055209-G-A p.Arg183* stop_gained ABCG5 1 83164 1.20244E-5 41582 0 1.65205E-5
2-44055213-T-G p.Ala181Ala synonymous ABCG5 2 83172 2.40466E-5 41586 0 9.56816E-5
2-44055214-G-A p.Ala181Val missense ABCG5 1 83156 1.20256E-5 41578 0 8.26119E-6
2-44055221-G-C p.His179Asp missense ABCG5 1 83132 1.20291E-5 41566 0 NA
2-44055227-G-C p.Leu177Val missense ABCG5 1 83084 1.2036E-5 41542 0 NA
2-44055235-T-C p.Glu174Gly missense ABCG5 1 83020 1.20453E-5 41510 0 NA
2-44055245-C-T p.Val171Ile missense ABCG5 5 82908 6.03078E-5 41454 0 0.00100705
2-44055246-G-A c.-192C>T 5_prime_UTR_premature_start_codon_gain ABCG5 26 82870 3.13744E-4 41435 0 7.34214E-4
2-44055247-G-T p.Ala170Asp missense ABCG5 1 82796 1.20779E-5 41398 0 3.19224E-5
2-44055267-C-A c.-213G>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 82148 1.21732E-5 41074 0 NA
2-44055344-C-G c.-290G>C 5_prime_UTR_premature_start_codon_gain ABCG5 1 67694 1.47724E-5 33847 0 NA
2-44055353-A-G c.-299T>C 5_prime_UTR_premature_start_codon_gain ABCG5 1 65516 1.52634E-5 32758 0 NA
2-44055385-C-A c.-331G>T 5_prime_UTR_premature_start_codon_gain ABCG5 4 56978 7.02025E-5 28489 0 3.18837E-5
2-44055427-G-A c.-373C>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 40848 2.4481E-5 20424 0 NA
2-44055464-T-C c.-410A>G 5_prime_UTR_premature_start_codon_gain ABCG5 1 26076 3.83494E-5 13038 0 1.38278E-5
2-44055510-C-T p.Ter119Ter stop_retained ABCG5 908 14992 0.0605656 7496 4 0.0857488
2-44055512-T-A c.-458A>T 5_prime_UTR_premature_start_codon_gain ABCG5 3 14774 2.03059E-4 7387 0 1.08404E-4
2-44055527-T-C p.Val113Val synonymous ABCG5 3997 10478 0.381466 5239 573 0.52395
2-44055537-G-A p.Pro110Leu missense ABCG5 1 11306 8.84486E-5 5653 0 3.23436E-5
2-44055543-G-A p.Pro108Leu missense ABCG5 39 10588 0.00368342 5294 1 0.00866096
2-44055609-T-TA c.259-3_259-2insT splice_region ABCG5 1 5224 1.91424E-4 2612 0 NA
2-44055609-T-TAAAAA c.259-3_259-2insTTTTT splice_region ABCG5 1 5224 1.91424E-4 2612 0 NA
2-44055609-T-TAA c.259-3_259-2insTT splice_region ABCG5 1 5224 1.91424E-4 2612 0 NA
2-44055611-CAAAAAAAA-C c.259-12_259-5delTTTTTTTT splice_region ABCG5 11 5678 0.0019373 2839 0 0.00841035
2-44055611-CAA-C c.259-6_259-5delTT splice_region ABCG5 159 5512 0.0288462 2756 0 0.340111
2-44055611-C-CAA c.259-5_259-4insTT splice_region ABCG5 146 5620 0.0259786 2810 0 0.0271303
2-44055611-C-CAAAA c.259-5_259-4insTTTT splice_region ABCG5 161 5668 0.0284051 2834 0 0.0210703
2-44055611-C-CA c.259-5_259-4insT splice_region ABCG5 182 5414 0.0336166 2707 8 0.0956562
2-44055611-C-CAAA c.259-5_259-4insTTT splice_region ABCG5 190 5666 0.0335334 2833 0 0.0240537
2-44055611-C-CAAAAA c.259-5_259-4insTTTTT splice_region ABCG5 65 5676 0.0114517 2838 0 NA
2-44055611-CA-C c.259-5delT splice_region ABCG5 19 5614 0.0033844 2807 0 0.127261
2-44055611-CAAAAAAA-C c.259-11_259-5delTTTTTTT splice_region ABCG5 43 5674 0.00757843 2837 3 0.0730129
2-44055611-CAAA-C c.259-7_259-5delTTT splice_region ABCG5 29 5630 0.00515098 2815 0 NA
2-44055611-C-CAAAAAA c.259-5_259-4insTTTTTT splice_region ABCG5 25 5684 0.00439831 2842 0 NA
2-44055611-C-A c.259-4G>T splice_region ABCG5 15 5658 0.00265111 2829 0 NA
2-44055611-C-CAAAAAAAA c.259-5_259-4insTTTTTTTT splice_region ABCG5 2 5684 3.51865E-4 2842 0 NA
2-44055611-C-CAAAAAAA c.259-5_259-4insTTTTTTT splice_region ABCG5 7 5684 0.00123153 2842 0 NA
2-44055611-CAAAAA-C c.259-9_259-5delTTTTT splice_region ABCG5 1 5680 1.76056E-4 2840 0 NA
2-44055611-CAAAA-C c.259-8_259-5delTTTT splice_region ABCG5 12 5672 0.00211566 2836 0 NA
2-44055611-CAAAAAA-C c.259-10_259-5delTTTTTT splice_region ABCG5 1 5684 1.75932E-4 2842 0 NA
2-44055611-C-CAAAAAAAAAAA c.259-5_259-4insTTTTTTTTTTT splice_region ABCG5 1 5684 1.75932E-4 2842 0 NA
2-44055611-CAAAAAAAAAA-C c.259-14_259-5delTTTTTTTTTT splice_region ABCG5 1 5684 1.75932E-4 2842 0 NA
2-44055611-C-CAAAAAAAAAAAAAAAAAAAAAAAAA c.259-5_259-4insTTTTTTTTTTTTTTTTTTTTTTTTT splice_region ABCG5 1 5684 1.75932E-4 2842 0 NA
2-44058933-C-T p.Gly159Asp missense ABCG5 1 75808 1.31912E-5 37904 0 NA
2-44058939-C-T p.Arg157His missense ABCG5 1 76476 1.3076E-5 38238 0 NA
2-44058942-A-AT p.Ile156fs frameshift ABCG5 1 76998 1.29874E-5 38499 0 NA
2-44058956-G-T p.Thr151Thr synonymous ABCG5 5 78088 6.40303E-5 39044 0 0.00204499
2-44058957-G-A p.Thr151Ile missense ABCG5 1 78194 1.27887E-5 39097 0 NA
2-44058967-G-A c.-613C>T 5_prime_UTR_premature_start_codon_gain ABCG5 18 78322 2.2982E-4 39161 0 9.86246E-4
2-44058973-C-G p.Glu146Gln missense ABCG5 1 78486 1.27411E-5 39243 0 2.70577E-5
2-44058974-G-A p.Arg145Arg synonymous ABCG5 1 78418 1.27522E-5 39209 0 0.0025641
2-44058976-G-A p.Arg145Cys missense ABCG5 2 78448 2.54946E-5 39224 0 3.19632E-5
2-44058978-A-G p.Val144Ala missense ABCG5 9 78594 1.14513E-4 39297 0 3.1998E-4
2-44059001-G-A p.Asp136Asp synonymous ABCG5 1 78534 1.27333E-5 39267 0 5.38167E-6
2-44059009-G-A c.403-3C>T splice_region ABCG5 1 78416 1.27525E-5 39208 0 NA
2-44059011-A-G c.403-5T>C splice_region ABCG5 2 78424 2.55024E-5 39212 0 5.68311E-6
2-44059014-A-T c.403-8T>A splice_region ABCG5 1 78322 1.27678E-5 39161 0 NA
2-44059090-A-AG p.Leu133fs frameshift ABCG5 1 77762 1.28598E-5 38881 0 NA
2-44059096-T-C p.Tyr131Cys missense ABCG5 3 77918 3.8502E-5 38959 0 0.00224467
2-44059097-A-G p.Tyr131His missense ABCG5 16 78078 2.04923E-4 39039 0 1.9707E-5
2-44059105-C-G p.Cys128Ser missense ABCG5 1 78174 1.2792E-5 39087 0 NA
2-44059111-T-C p.Gln126Arg missense ABCG5 3 78320 3.83044E-5 39160 0 6.38488E-5
2-44059122-C-G p.Arg122Arg synonymous ABCG5 3 78382 3.82741E-5 39191 0 1.7819E-4
2-44059123-C-T p.Arg122Gln missense ABCG5 1 78298 1.27717E-5 39149 0 1.90777E-5
2-44059124-G-A p.Arg122Trp missense ABCG5 2 78294 2.55447E-5 39147 0 3.19366E-5
2-44059130-G-C p.Leu120Val missense ABCG5 1 78342 1.27645E-5 39171 0 6.27683E-6
2-44059133-C-CCCGG p.Ala119fs frameshift ABCG5 1 78382 1.2758E-5 39191 0 6.22069E-6
2-44059135-C-G p.Arg118Pro missense ABCG5 1 78422 1.27515E-5 39211 0 NA
2-44059145-C-A p.Val115Leu missense ABCG5 1 78734 1.2701E-5 39367 0 NA
2-44059145-C-T p.Val115Met missense ABCG5 1 78734 1.2701E-5 39367 0 5.29998E-5
2-44059147-T-C p.Tyr114Cys missense ABCG5 3 78722 3.81088E-5 39361 0 3.19203E-5
2-44059157-C-G p.Gly111Arg missense ABCG5 2 78788 2.53846E-5 39394 0 3.18979E-5
2-44059163-A-G p.Phe109Leu missense ABCG5 39 78770 4.95112E-4 39385 0 0.0011484
2-44059169-C-T p.Gly107Arg missense ABCG5 1 78698 1.27068E-5 39349 0 NA
2-44059172-C-T p.Ala106Thr missense ABCG5 3 78436 3.82477E-5 39218 0 NA
2-44059181-GC-CT p.ArgLeu102ArgVal missense ABCG5 1 78536 1.2733E-5 39268 0 NA
2-44059187-C-A p.Gly101Trp missense ABCG5 1 78538 1.27327E-5 39269 0 5.15421E-6
2-44059188-G-C p.Ser100Ser synonymous ABCG5 4 78520 5.09424E-5 39260 0 9.55962E-5
2-44059195-G-C p.Ala98Gly missense ABCG5 336 78368 0.00428746 39184 3 0.00625
2-44059195-GC-CA p.Ala98Cys missense ABCG5 2 78388 2.55141E-5 39194 0 NA
2-44059197-G-C p.Asp97Glu missense ABCG5 2 78368 2.55206E-5 39184 0 NA
2-44059198-T-TCCAGCAG p.Asp97fs frameshift ABCG5 1 78332 1.27662E-5 39166 0 NA
2-44059206-C-T p.Thr94Thr synonymous ABCG5 3 77988 3.84675E-5 38994 0 7.89141E-5
2-44064985-G-A p.Leu85Leu synonymous ABCG5 1 83366 1.19953E-5 41683 0 NA
2-44064985-G-C p.Leu85Val missense ABCG5 3 83366 3.59859E-5 41683 0 NA
2-44064993-A-G p.Met1? start_lost ABCG5 2 83394 2.39825E-5 41697 0 2.38576E-5
2-44065000-G-T p.Gln80Lys missense ABCG5 11 83376 1.31932E-4 41688 0 5.03525E-4
2-44065003-C-T p.Gly79Arg missense ABCG5 47 83378 5.63698E-4 41689 0 3.93651E-4
2-44065004-G-A p.Ser78Ser synonymous ABCG5 1 83376 1.19939E-5 41688 0 1.64737E-5
2-44065012-C-T p.Val76Met missense ABCG5 8 83376 9.59509E-5 41688 0 1.59266E-4
2-44065013-G-A c.-19C>T 5_prime_UTR_premature_start_codon_gain ABCG5 2 83376 2.39877E-5 41688 0 1.64734E-5
2-44065014-T-A p.Tyr75Phe missense ABCG5 2 83378 2.39871E-5 41689 0 NA
2-44065018-A-C p.Leu74Val missense ABCG5 1 83380 1.19933E-5 41690 0 2.47101E-5
2-44065025-A-G p.Asp71Asp synonymous ABCG5 1 83378 1.19936E-5 41689 0 NA
2-44065027-C-T p.Asp71Asn missense ABCG5 1 83378 1.19936E-5 41689 0 NA
2-44065033-G-A p.Leu69Phe missense ABCG5 1 83374 1.19941E-5 41687 0 NA
2-44065056-C-T p.Arg61Gln missense ABCG5 14 83362 1.67942E-4 41681 0 1.56513E-4
2-44065057-G-A p.Arg61Trp missense ABCG5 2 83362 2.39917E-5 41681 0 3.18756E-5
2-44065058-G-A p.Cys60Cys synonymous ABCG5 2 83354 2.3994E-5 41677 0 1.1929E-5
2-44065062-G-A p.Ser59Phe missense ABCG5 1 83354 1.1997E-5 41677 0 3.97633E-6
2-44065069-T-C p.Ile57Val missense ABCG5 2 83350 2.39952E-5 41675 0 NA
2-44065083-C-A p.Arg52Met missense ABCG5 1 83342 1.19988E-5 41671 0 3.18695E-5
2-44065083-C-T p.Arg52Lys missense ABCG5 1 83342 1.19988E-5 41671 0 NA
2-44065088-G-A p.Arg50Arg synonymous ABCG5 1 83338 1.19993E-5 41669 0 0.00100705
2-44065090-G-A p.Arg50Cys missense ABCG5 5668 83162 0.0681561 41581 213 0.0790534
2-44065113-G-C c.-119C>G 5_prime_UTR_premature_start_codon_gain ABCG5 1 83176 1.20227E-5 41588 0 1.19403E-5
2-44065126-G-T c.-132C>A 5_prime_UTR_premature_start_codon_gain ABCG5 1 82996 1.20488E-5 41498 0 NA
2-44065149-C-T c.-155G>A 5_prime_UTR_premature_start_codon_gain ABCG5 1 82292 1.21518E-5 41146 0 NA
2-44065191-G-T c.-197C>A 5_prime_UTR_premature_start_codon_gain ABCG5 2 80034 2.49894E-5 40017 0 NA
2-44065200-G-A c.-206C>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 79182 1.26291E-5 39591 0 NA
2-44065211-T-A c.-217A>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 78094 1.28051E-5 39047 0 6.37227E-5
2-44065215-G-A c.-221C>T 5_prime_UTR_premature_start_codon_gain ABCG5 11 77432 1.4206E-4 38716 0 7.32671E-4
2-44065254-G-A c.-260C>T 5_prime_UTR_premature_start_codon_gain ABCG5 10 66914 1.49446E-4 33457 0 9.55657E-5
2-44065278-C-T c.-284G>A 5_prime_UTR_premature_start_codon_gain ABCG5 51 57288 8.90239E-4 28644 0 6.05173E-4
2-44065323-G-A c.-329C>T 5_prime_UTR_premature_start_codon_gain ABCG5 3 38326 7.82758E-5 19163 0 6.36983E-5
2-44065333-G-A c.-339C>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 35274 2.83495E-5 17637 0 6.37105E-5
2-44065360-C-A c.-366G>T 5_prime_UTR_premature_start_codon_gain ABCG5 2 30412 6.57635E-5 15206 0 6.37227E-5
2-44065387-G-A c.-393C>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 28264 3.53807E-5 14132 0 NA
2-44065402-T-A c.-408A>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 28592 3.49748E-5 14296 0 NA
2-44065419-G-A c.-425C>T 5_prime_UTR_premature_start_codon_gain ABCG5 65 29792 0.00218179 14896 0 0.00162586
2-44065551-G-A c.-557C>T 5_prime_UTR_premature_start_codon_gain ABCG5 1 72270 1.3837E-5 36135 0 3.18959E-5
2-44065572-G-A c.-578C>T 5_prime_UTR_premature_start_codon_gain ABCG5 3 76004 3.94716E-5 38002 0 3.18634E-5
2-44065590-C-T c.-596G>A 5_prime_UTR_premature_start_codon_gain ABCG5 1 77820 1.28502E-5 38910 0 NA
2-44065666-TCTGCCTTACCTGACGCTGTAGGAGGCATGGAGGATGCCCAGGCTGTGAGGCTCCGGGGCGGTGGCAGGAGC-T p.Ala28fs frameshift ABCG5 1 81484 1.22723E-5 40742 0 NA
2-44065669-G-A c.143+7C>T splice_region ABCG5 1 81544 1.22633E-5 40772 0 4.59284E-6
2-44065677-T-C p.Ser48Gly missense+splice_region ABCG5 2 81682 2.44852E-5 40841 0 NA
2-44065680-C-A p.Val47Phe missense ABCG5 92 81716 0.00112585 40858 1 0.00354251
2-44065680-C-T p.Val47Ile missense ABCG5 4 81718 4.89488E-5 40859 0 1.17749E-4
2-44065692-C-A p.Ala43Ser missense ABCG5 1 81858 1.22163E-5 40929 0 NA
2-44065695-G-A p.His42Tyr missense ABCG5 1 81932 1.22052E-5 40966 0 NA
2-44065698-G-C p.Leu41Val missense ABCG5 6 81916 7.32458E-5 40958 0 3.18552E-5
2-44065703-C-T p.Gly39Asp missense ABCG5 2 81902 2.44194E-5 40951 0 3.18654E-5
2-44065707-G-C p.Leu38Val missense ABCG5 1 81966 1.22002E-5 40983 0 6.05052E-5
2-44065716-G-T p.Pro35Thr missense ABCG5 2 81898 2.44206E-5 40949 0 NA
2-44065720-C-T p.Pro33Pro synonymous ABCG5 30 81916 3.66229E-4 40958 0 6.28931E-4
2-44065720-C-G p.Pro33Pro synonymous ABCG5 1 81916 1.22076E-5 40958 0 NA
2-44065721-G-C p.Pro33Arg missense ABCG5 3 81944 3.66104E-5 40972 0 6.37471E-5
2-44065721-G-A p.Pro33Leu missense ABCG5 1 81944 1.22035E-5 40972 0 5.05051E-4
2-44065722-G-A p.Pro33Ser missense ABCG5 1 81992 1.21963E-5 40996 0 4.17341E-6
2-44065725-C-T p.Ala32Thr missense ABCG5 6 81922 7.32404E-5 40961 0 8.86211E-5
2-44065727-G-A p.Thr31Ile missense ABCG5 1 81920 1.2207E-5 40960 0 NA
2-44065738-C-A p.Gly27Gly synonymous ABCG5 1 82014 1.2193E-5 41007 0 NA
2-44065739-C-G p.Gly27Ala missense ABCG5 345 82030 0.00420578 41015 0 0.00427926
2-44065741-C-A p.Glu26Asp missense ABCG5 8 82074 9.7473E-5 41037 0 1.11185E-4
2-44065746-G-C p.Leu25Val missense ABCG5 1 82072 1.21844E-5 41036 0 NA
2-44065746-G-A c.-752C>T 5_prime_UTR_premature_start_codon_gain ABCG5 3 82072 3.65533E-5 41036 0 NA
2-44065755-G-A p.Gln22* stop_gained ABCG5 2 82270 2.43102E-5 41135 0 1.02478E-4
2-44065763-C-A p.Arg19Ile missense ABCG5 1 82386 1.2138E-5 41193 0 3.18613E-5
2-44065769-A-C p.Val17Gly missense ABCG5 40 82424 4.85296E-4 41212 0 0.00133988
2-44065774-G-C c.-780C>G 5_prime_UTR_premature_start_codon_gain ABCG5 1 82498 1.21215E-5 41249 0 NA
2-44065774-G-A p.Leu15Leu synonymous ABCG5 1 82498 1.21215E-5 41249 0 8.02723E-6
2-44065776-G-C p.Leu15Val missense ABCG5 2 82526 2.42348E-5 41263 0 2.0061E-5
2-44065776-G-T p.Leu15Ile missense ABCG5 7 82526 8.48218E-5 41263 1 6.37755E-5
2-44065780-C-A p.Met13Ile missense ABCG5 3 82562 3.63363E-5 41281 0 1.16278E-4
2-44065786-C-A p.Gly11Gly synonymous ABCG5 1 82590 1.2108E-5 41295 0 1.64072E-4
2-44065789-T-C p.Gly10Gly synonymous ABCG5 2 82612 2.42096E-5 41306 0 9.10498E-6
2-44065791-C-T p.Gly10Arg missense ABCG5 1 82602 1.21062E-5 41301 0 1.00047E-4
2-44065792-G-A c.-798C>T 5_prime_UTR_premature_start_codon_gain ABCG5 36 82574 4.35973E-4 41287 0 0.00188206
2-44065798-C-G p.Leu7Phe missense ABCG5 1 82612 1.21048E-5 41306 0 NA
2-44065809-G-T p.Leu4Ile missense ABCG5 1 82646 1.20998E-5 41323 0 4.01281E-6
2-44065817-A-G p.Met1? start_lost ABCG5 1 82606 1.21057E-5 41303 0 9.15215E-6
2-44065844-A-C c.-26T>G 5_prime_UTR_premature_start_codon_gain ABCG5 1 82348 1.21436E-5 41174 0 NA
2-44065859-G-A c.-41C>T 5_prime_UTR_premature_start_codon_gain ABCG5 4 82004 4.87781E-5 41002 0 6.37308E-5
2-44065894-G-A c.-76C>T 5_prime_UTR_premature_start_codon_gain ABCG5 5 80352 6.22262E-5 40176 0 3.18654E-5
2-44065908-T-A c.-90A>T 5_prime_UTR_premature_start_codon_gain ABCG5 2 79926 2.50231E-5 39963 0 NA
2-44065920-C-A c.-102G>T 5_prime_UTR_premature_start_codon_gain ABCG5 8 79374 1.00789E-4 39687 0 NA
2-44065964-C-T c.-970G>A 5_prime_UTR_premature_start_codon_gain ABCG5 1 76656 1.30453E-5 38328 0 NA
2-44065965-G-A c.-971C>T 5_prime_UTR_premature_start_codon_gain ABCG5 4 76566 5.22425E-5 38283 0 NA