Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-43619963-A-G c.-100+4A>G splice_region ABCG1 1 2824 3.54108E-4 1412 0 NA
21-43621687-C-T c.-99C>T splice_region ABCG1 5 67372 7.42148E-5 33686 0 3.18654E-5
21-43621707-C-T c.-79C>T 5_prime_UTR_premature_start_codon_gain ABCG1 4 72616 5.50843E-5 36308 0 6.29723E-4
21-43621734-C-T c.-52C>T 5_prime_UTR_premature_start_codon_gain ABCG1 482 77058 0.00625503 38529 5 0.0154846
21-43621735-G-A c.-51G>A 5_prime_UTR_premature_start_codon_gain ABCG1 6 77226 7.7694E-5 38613 0 8.3078E-5
21-43621760-C-T c.-26C>T 5_prime_UTR_premature_start_codon_gain ABCG1 30 78862 3.80411E-4 39431 0 2.6595E-4
21-43621767-G-C c.-19G>C 5_prime_UTR_premature_start_codon_gain ABCG1 1 79170 1.2631E-5 39585 0 1.37574E-5
21-43621788-G-T p.Met1? start_lost ABCG1 2 79830 2.50532E-5 39915 0 4.11882E-6
21-43621796-C-T p.Thr4Met missense ABCG1 2 79976 2.50075E-5 39988 0 6.37349E-5
21-43621797-G-A p.Thr4Thr synonymous ABCG1 139 79970 0.00173815 39985 0 0.00570539
21-43621799-A-G p.Gln5Arg missense ABCG1 2 80048 2.4985E-5 40024 0 2.8477E-5
21-43621807-A-G p.Thr8Ala missense ABCG1 1 80164 1.24744E-5 40082 0 8.91711E-6
21-43621810-A-G p.Lys9Glu missense ABCG1 1 80186 1.2471E-5 40093 0 4.05354E-6
21-43621834-G-A c.48+1G>A splice_donor ABCG1 1 80340 1.24471E-5 40170 0 3.18593E-5
21-43621837-T-A c.48+4T>A splice_region ABCG1 2 80332 2.48967E-5 40166 0 NA
21-43621839-G-A c.48+6G>A splice_region ABCG1 1 80342 1.24468E-5 40171 0 8.29999E-6
21-43621839-G-T c.48+6G>T splice_region ABCG1 1 80342 1.24468E-5 40171 0 NA
21-43627101-G-A n.226+5G>A splice_region ABCG1 1 6 0.166667 3 0 0.0154357
21-43627104-A-G n.226+8A>G splice_region ABCG1 1 4 0.25 2 0 0.0130463
21-43636234-C-T c.-32C>T 5_prime_UTR_premature_start_codon_gain ABCG1 2 7090 2.82087E-4 3545 0 7.96381E-4
21-43636262-C-T c.-4C>T 5_prime_UTR_premature_start_codon_gain ABCG1 1 7092 1.41004E-4 3546 0 9.55414E-5
21-43636306-C-T c.33+8C>T splice_region ABCG1 7 7042 9.94036E-4 3521 1 9.55597E-4
21-43639249-C-T c.-124C>T 5_prime_UTR_premature_start_codon_gain ABCG1 1 57290 1.74551E-5 28645 0 NA
21-43639308-C-T c.-65C>T 5_prime_UTR_premature_start_codon_gain ABCG1 2 71538 2.79572E-5 35769 0 NA
21-43639309-G-T c.-64G>T 5_prime_UTR_premature_start_codon_gain ABCG1 3 71672 4.18574E-5 35836 0 NA
21-43639346-C-T c.-27C>T 5_prime_UTR_premature_start_codon_gain ABCG1 1 76954 1.29948E-5 38477 0 7.50807E-6
21-43639361-C-T c.-12C>T 5_prime_UTR_premature_start_codon_gain ABCG1 4 77456 5.16422E-5 38728 0 1.81677E-4
21-43639381-T-C p.Cys3Cys synonymous ABCG1 214 77934 0.00274591 38967 5 0.00510534
21-43639389-C-A p.Ala6Asp missense ABCG1 1 78020 1.28172E-5 39010 0 NA
21-43639392-C-T p.Ala7Val missense ABCG1 1 78072 1.28087E-5 39036 0 NA
21-43639401-T-C p.Val10Ala missense ABCG1 1 78146 1.27966E-5 39073 0 NA
21-43639408-C-T p.Thr12Thr synonymous ABCG1 1 78274 1.27756E-5 39137 0 5.31331E-5
21-43639412-A-G p.Met14Val missense+splice_region ABCG1 1 78294 1.27724E-5 39147 0 6.85699E-5
21-43639414-G-GAATGCCAGCAGTTACTCTGCAGAGATGACGGAGCCCAAGTCGGT c.42_42+1insAATGCCAGCAGTTACTCTGCAGAGATGACGGAGCCCAAGTCGGT splice_donor ABCG1 1 78334 1.27658E-5 39167 0 NA
21-43639419-G-A c.42+5G>A splice_region ABCG1 1 78322 1.27678E-5 39161 0 NA
21-43639950-G-T c.-132G>T 5_prime_UTR_premature_start_codon_gain ABCG1 1 73414 1.36214E-5 36707 0 NA
21-43639997-C-T c.-85C>T 5_prime_UTR_premature_start_codon_gain ABCG1 2 79046 2.53017E-5 39523 0 NA
21-43640007-C-T c.-75C>T 5_prime_UTR_premature_start_codon_gain ABCG1 162 79652 0.00203385 39826 1 0.00472059
21-43640022-C-T c.-60C>T 5_prime_UTR_premature_start_codon_gain ABCG1 1 80460 1.24285E-5 40230 0 NA
21-43640066-C-T c.-16C>T 5_prime_UTR_premature_start_codon_gain ABCG1 4 81212 4.92538E-5 40606 0 2.55876E-5
21-43640086-G-A p.Arg2His missense ABCG1 2 81368 2.45797E-5 40684 0 3.18857E-5
21-43640097-C-G p.Pro6Ala missense ABCG1 1 81420 1.2282E-5 40710 0 NA
21-43640098-C-A p.Pro6His missense ABCG1 1 81428 1.22808E-5 40714 0 NA
21-43640100-C-G p.Arg7Gly missense ABCG1 1 81442 1.22787E-5 40721 0 3.31596E-4
21-43640101-G-C p.Arg7Pro missense ABCG1 3 81436 3.68387E-5 40718 0 3.18817E-5
21-43640109-G-A p.Glu10Lys missense ABCG1 2 81450 2.45549E-5 40725 0 6.26527E-6
21-43640127-T-A p.Ser16Thr missense ABCG1 16 81452 1.96435E-4 40726 0 3.19244E-5
21-43640143-T-C p.Leu21Pro missense ABCG1 1 81454 1.22769E-5 40727 0 NA
21-43640145-GAC-G p.Thr23fs frameshift ABCG1 8 81452 9.82174E-5 40726 0 4.73037E-5
21-43640156-T-C p.Thr25Thr splice_region+synonymous ABCG1 3 81460 3.68279E-5 40730 0 0.0010846
21-43645773-T-A c.76-8T>A splice_region ABCG1 1 82970 1.20525E-5 41485 0 NA
21-43645788-G-A p.Ser28Asn missense ABCG1 13 83152 1.5634E-4 41576 0 6.06177E-4
21-43645804-G-A p.Glu33Glu synonymous ABCG1 1 83292 1.2006E-5 41646 0 NA
21-43645804-G-T p.Glu33Asp missense ABCG1 2 83292 2.40119E-5 41646 0 3.18898E-5
21-43645809-C-T p.Thr35Met missense ABCG1 19 83302 2.28086E-4 41651 0 0.00125
21-43645810-G-A p.Thr35Thr synonymous ABCG1 1 83302 1.20045E-5 41651 0 6.37918E-5
21-43645832-T-G p.Ser43Ala missense ABCG1 1 83354 1.1997E-5 41677 0 3.97678E-6
21-43645833-C-T p.Ser43Leu missense ABCG1 5 83352 5.99866E-5 41676 0 3.18837E-5
21-43645834-G-C p.Ser43Ser synonymous ABCG1 1 83352 1.19973E-5 41676 0 NA
21-43645834-G-A p.Ser43Ser synonymous ABCG1 3 83352 3.59919E-5 41676 0 6.59044E-5
21-43645844-G-A p.Val47Met missense ABCG1 5 83366 5.99765E-5 41683 0 6.36284E-5
21-43645861-G-A p.Met52Ile missense ABCG1 4 83382 4.7972E-5 41691 0 3.97646E-6
21-43645875-C-T p.Thr57Met missense ABCG1 3 83376 3.59816E-5 41688 0 9.54327E-5
21-43645876-G-A p.Thr57Thr synonymous ABCG1 79 83380 9.47469E-4 41690 0 5.96459E-4
21-43645877-G-A p.Asp58Asn missense ABCG1 2 83376 2.39877E-5 41688 0 NA
21-43645889-G-A p.Gly62Arg missense ABCG1 2 83374 2.39883E-5 41687 0 0.00100705
21-43645905-T-A p.Val67Glu missense ABCG1 1 83372 1.19944E-5 41686 0 3.97636E-6
21-43645918-C-G p.Leu71Leu synonymous ABCG1 2 83368 2.399E-5 41684 0 3.9764E-6
21-43645921-G-A p.Thr72Thr synonymous ABCG1 6 83360 7.1977E-5 41680 0 6.37714E-5
21-43645929-A-G p.Gln75Arg missense ABCG1 2 83352 2.39946E-5 41676 0 NA
21-43645931-C-G p.Arg76Gly missense ABCG1 1 83348 1.19979E-5 41674 0 3.9764E-6
21-43645931-C-A p.Arg76Ser missense ABCG1 3 83348 3.59937E-5 41674 0 3.19122E-5
21-43645931-C-T p.Arg76Cys missense ABCG1 1 83348 1.19979E-5 41674 0 8.23778E-6
21-43645932-G-A p.Arg76His missense ABCG1 1 83342 1.19988E-5 41671 0 7.95292E-6
21-43645950-G-A p.Arg82Gln missense ABCG1 1 83312 1.20031E-5 41656 0 2.4719E-5
21-43645954-G-A p.Arg83Arg synonymous ABCG1 1 83304 1.20042E-5 41652 0 8.24185E-6
21-43645975-C-A p.Phe90Leu missense ABCG1 2 83188 2.40419E-5 41594 1 NA
21-43645976-A-C p.Arg91Arg synonymous ABCG1 1 83184 1.20215E-5 41592 0 NA
21-43645989-A-T p.Tyr95Phe missense ABCG1 1 83018 1.20456E-5 41509 0 NA
21-43645993-G-A p.Ser96Ser synonymous ABCG1 2 82832 2.41453E-5 41416 0 3.18776E-5
21-43645993-G-C p.Ser96Ser synonymous ABCG1 1 82832 1.20726E-5 41416 0 NA
21-43646006-C-A p.Pro101Thr missense ABCG1 1 82358 1.21421E-5 41179 0 1.59939E-5
21-43646028-G-A c.319+4G>A splice_region ABCG1 59 81308 7.25636E-4 40654 0 0.00338751
21-43676223-G-A c.-119G>A 5_prime_UTR_premature_start_codon_gain ABCG1 1 43190 2.31535E-5 21595 0 NA
21-43676264-G-A c.-78G>A 5_prime_UTR_premature_start_codon_gain ABCG1 1 50072 1.99712E-5 25036 0 3.18634E-5
21-43676333-A-G c.-9A>G 5_prime_UTR_premature_start_codon_gain ABCG1 2 52918 3.77943E-5 26459 0 NA
21-43676349-C-T p.Ala3Val missense ABCG1 1 53146 1.88161E-5 26573 0 6.36943E-5
21-43676361-C-G p.Thr7Arg missense ABCG1 9 53332 1.68754E-4 26666 0 1.5758E-4
21-43676365-A-T p.Glu8Asp missense ABCG1 1 53372 1.87364E-5 26686 0 NA
21-43676368-C-T p.His9His synonymous ABCG1 97 53356 0.00181798 26678 0 0.00487261
21-43676370-T-C p.Leu10Ser missense ABCG1 1 53358 1.87413E-5 26679 0 NA
21-43676377-C-T p.Ala12Ala synonymous ABCG1 1 53376 1.8735E-5 26688 0 NA
21-43676386-C-T p.Pro15Pro synonymous ABCG1 1 53370 1.87371E-5 26685 0 2.53485E-4
21-43676386-CG-TA p.ProAla15ProThr missense ABCG1 1 53370 1.87371E-5 26685 0 NA
21-43676387-G-A p.Ala16Thr missense ABCG1 2637 53272 0.0495007 26636 292 0.0901085
21-43676390-A-G p.Arg17Gly missense ABCG1 2 53352 3.74869E-5 26676 0 NA
21-43676392-G-A p.Arg17Arg synonymous ABCG1 30 53348 5.62345E-4 26674 0 3.88376E-4
21-43676406-A-G p.Asn22Ser missense ABCG1 1 53344 1.87463E-5 26672 0 2.19571E-5
21-43676415-C-T p.Pro25Leu missense ABCG1 5 53324 9.37664E-5 26662 0 3.4638E-4
21-43676422-TA-CT p.SerThr27SerSer missense ABCG1 1 53322 1.8754E-5 26661 0 NA
21-43676435-C-A p.Pro32Thr missense ABCG1 2 53266 3.75474E-5 26633 0 NA
21-43676440-T-G p.Ser33Ser synonymous ABCG1 1 53242 1.87822E-5 26621 0 6.73056E-6
21-43676442-T-A p.Leu34Gln missense ABCG1 1 53224 1.87885E-5 26612 0 1.31544E-4
21-43676449-G-A p.Gly36Gly synonymous ABCG1 1 53146 1.88161E-5 26573 0 NA
21-43676453-C-T p.Arg38Trp missense ABCG1 3 53122 5.64738E-5 26561 0 1.95262E-4
21-43676454-G-A p.Arg38Gln missense ABCG1 2 53136 3.76393E-5 26568 0 6.49519E-5
21-43676488-C-T p.Thr10Thr synonymous ABCG1 1 53048 1.88509E-5 26524 0 6.745E-6
21-43676489-G-A p.Ala11Thr missense ABCG1 2 53038 3.77088E-5 26519 0 1.34984E-5
21-43676516-C-T p.Leu20Leu synonymous ABCG1 7 52976 1.32135E-4 26488 0 9.55353E-5
21-43676517-T-C p.Leu20Pro missense ABCG1 2 52974 3.77544E-5 26487 0 6.77461E-6
21-43676538-T-C p.Leu27Pro missense ABCG1 1 53000 1.88679E-5 26500 0 4.03172E-4
21-43676544-A-G p.Glu29Gly missense ABCG1 1 52990 1.88715E-5 26495 0 NA
21-43676558-G-A p.Ala34Thr missense ABCG1 13 53006 2.45255E-4 26503 0 8.79531E-5
21-43676565-A-G p.Tyr36Cys missense ABCG1 1 53052 1.88494E-5 26526 0 NA
21-43676567-C-T p.Pro37Ser missense ABCG1 1 53062 1.88459E-5 26531 0 6.74873E-6
21-43676577-G-A p.Gly40Asp missense ABCG1 5 53078 9.4201E-5 26539 0 0.00125
21-43676586-A-T p.Tyr43Phe missense ABCG1 6660 53000 0.12566 26500 468 0.135194
21-43676598-T-C p.Met47Thr missense ABCG1 2 53102 3.76634E-5 26551 0 1.74773E-4
21-43676607-C-T p.Ala50Val missense ABCG1 1 53102 1.88317E-5 26551 0 NA
21-43676621-C-T p.Arg55Cys missense ABCG1 10 53104 1.8831E-4 26552 0 1.27421E-4
21-43676622-G-A p.Arg55His missense ABCG1 1 53122 1.88246E-5 26561 0 1.26807E-4
21-43676654-A-C p.Asn66His missense ABCG1 4 53240 7.51315E-5 26620 0 9.39812E-5
21-43676659-C-T p.Ile67Ile synonymous ABCG1 1 53244 1.87815E-5 26622 0 6.56685E-5
21-43676671-C-T p.Phe71Phe synonymous ABCG1 1 53220 1.87899E-5 26610 0 3.1835E-5
21-43676685-C-T p.Thr76Ile missense ABCG1 2 53188 3.76025E-5 26594 1 NA
21-43679418-G-A c.269-7G>A splice_region ABCG1 1 53346 1.87455E-5 26673 0 7.0919E-6
21-43679432-C-T p.Ala92Ala synonymous ABCG1 3 53948 5.56091E-5 26974 0 NA
21-43679433-G-A p.Val93Met missense ABCG1 6 54014 1.11082E-4 27007 0 3.18431E-5
21-43679436-C-T p.His94Tyr missense ABCG1 1 54050 1.85014E-5 27025 0 1.34744E-5
21-43679438-T-C p.His94His synonymous ABCG1 8788 52908 0.1661 26454 811 0.213265
21-43679441-A-C p.Val95Val synonymous ABCG1 1 54128 1.84747E-5 27064 0 6.71087E-6
21-43679441-A-G p.Val95Val synonymous ABCG1 1 54128 1.84747E-5 27064 0 NA
21-43679445-G-A p.Val97Met missense ABCG1 1 54164 1.84624E-5 27082 0 NA
21-43679468-A-G p.Lys104Lys synonymous ABCG1 2 54292 3.68378E-5 27146 0 NA
21-43679498-C-T p.Cys114Cys synonymous ABCG1 12 54364 2.20734E-4 27182 0 6.36862E-5
21-43679499-G-A p.Val115Met missense ABCG1 23 54366 4.23059E-4 27183 0 6.05134E-4
21-43679512-T-C p.Ile119Thr missense ABCG1 1 54372 1.83918E-5 27186 0 1.27397E-4
21-43679513-C-T p.Ile119Ile synonymous ABCG1 9253 53972 0.171441 26986 939 0.203482
21-43679514-G-A p.Glu120Lys missense ABCG1 17 54406 3.12466E-4 27203 0 5.09619E-4
21-43679522-CTG-C p.Cys123fs frameshift ABCG1 1 54456 1.83634E-5 27228 0 6.67094E-6
21-43679542-G-GA p.Arg131fs frameshift ABCG1 2 54502 3.66959E-5 27251 1 NA
21-43679554-C-T p.Pro133Leu missense ABCG1 9461 54220 0.174493 27110 991 0.211738
21-43679581-T-C p.Ile142Thr missense ABCG1 2 54922 3.64153E-5 27461 0 NA
21-43679592-C-A p.Pro146Thr missense ABCG1 1 54928 1.82057E-5 27464 0 2.66159E-5
21-43679605-G-A p.Arg150His missense ABCG1 5 54812 9.12209E-5 27406 0 5.32552E-4
21-43679606-TC-AA p.ArgPro150ArgThr missense ABCG1 1 54814 1.82435E-5 27407 0 NA
21-43679609-A-G p.Pro151Pro synonymous ABCG1 2 54798 3.64977E-5 27399 0 NA
21-43679616-G-A c.459+1G>A splice_donor ABCG1 2 54664 3.65871E-5 27332 0 NA
21-43680098-G-A c.460-1G>A splice_acceptor ABCG1 7 52836 1.32485E-4 26418 0 0.00107614
21-43680104-T-C p.Ser155Ser synonymous ABCG1 1 52862 1.89172E-5 26431 0 NA
21-43680106-CGGCATCCTGCACGTG-C p.Ala157_Trp161del conservative_inframe_deletion ABCG1 1017 52882 0.0192315 26441 9 0.0423488
21-43680107-G-A p.Ala156Ala synonymous ABCG1 399 52798 0.0075571 26399 9 0.0143057
21-43680118-C-T p.Thr160Met missense ABCG1 2 52870 3.78286E-5 26435 0 7.03997E-6
21-43680119-G-A p.Thr160Thr synonymous ABCG1 3 52862 5.67515E-5 26431 0 4.20262E-5
21-43680126-G-A p.Val163Ile missense ABCG1 2 53060 3.76932E-5 26530 0 5.47983E-5
21-43680143-G-T p.Gly168Gly synonymous ABCG1 1 53096 1.88338E-5 26548 0 6.74873E-6
21-43680144-C-T p.Pro169Ser missense ABCG1 69 53074 0.00130007 26537 2 0.00264432
21-43680148-A-T p.His170Leu missense ABCG1 2 53088 3.76733E-5 26544 0 NA
21-43680151-A-G p.His171Arg missense ABCG1 2 53046 3.77031E-5 26523 0 6.71971E-6
21-43680152-C-G p.His171Gln missense ABCG1 1 53058 1.88473E-5 26529 0 NA
21-43680153-C-T p.Leu172Leu synonymous ABCG1 1 53068 1.88437E-5 26534 0 NA
21-43680156-G-A p.Gly173Arg missense ABCG1 1 53056 1.8848E-5 26528 0 9.55414E-5
21-43680164-C-T p.Val175Val synonymous ABCG1 1 53078 1.88402E-5 26539 0 6.36902E-5
21-43680165-G-A p.Ala176Thr missense ABCG1 3 53080 5.65185E-5 26540 0 0.00125
21-43680168-A-G p.Ile177Val missense ABCG1 2 53108 3.76591E-5 26554 0 1.13881E-4
21-43680179-A-T p.Lys180Asn missense ABCG1 3 53122 5.64738E-5 26561 0 6.37227E-5
21-43680188-A-C p.Ser183Ser synonymous ABCG1 3 53084 5.65142E-5 26542 0 3.18471E-5
21-43680203-A-G p.Ala188Ala synonymous ABCG1 1 53030 1.88573E-5 26515 0 NA
21-43680210-G-A p.Ala191Thr missense ABCG1 16 53020 3.01773E-4 26510 0 2.08409E-4
21-43680216-G-A p.Gly193Ser missense ABCG1 3 53018 5.65846E-5 26509 0 3.18451E-5
21-43680218-T-G p.Gly193Gly synonymous ABCG1 1 53016 1.88622E-5 26508 0 NA
21-43680232-G-A p.Gly198Asp missense ABCG1 1 52980 1.8875E-5 26490 0 3.18471E-5
21-43680237-C-T p.Pro200Ser missense ABCG1 2 52968 3.77586E-5 26484 0 2.23015E-4
21-43680250-G-A c.610+1G>A splice_donor ABCG1 1 52938 1.889E-5 26469 0 3.18532E-5
21-43691172-T-G c.611-8T>G splice_region ABCG1 2 81432 2.45604E-5 40716 0 8.93943E-6
21-43691208-C-T p.Ser213Ser synonymous ABCG1 12 82296 1.45815E-4 41148 0 5.03525E-4
21-43691210-G-C p.Gly214Ala missense ABCG1 2 82320 2.42954E-5 41160 0 NA
21-43691219-A-G p.Asn217Ser missense ABCG1 1 82646 1.20998E-5 41323 0 NA
21-43691220-T-A p.Asn217Lys missense ABCG1 1 82620 1.21036E-5 41310 0 NA
21-43691230-T-A p.Leu221Met missense ABCG1 3 82676 3.62862E-5 41338 0 1.6999E-5
21-43691232-G-A p.Leu221Leu synonymous ABCG1 366 82662 0.00442767 41331 14 0.010108
21-43691242-A-C p.Met225Leu missense ABCG1 2 82664 2.41943E-5 41332 0 NA
21-43691248-C-A p.Pro227Thr missense ABCG1 1 82636 1.21013E-5 41318 0 NA
21-43691253-C-T p.Ser228Ser synonymous ABCG1 2 82598 2.42137E-5 41299 0 2.55397E-5
21-43691256-G-A p.Gly229Gly synonymous ABCG1 2 82562 2.42242E-5 41281 0 4.54897E-6
21-43691259-C-T p.Ala230Ala synonymous ABCG1 8 82532 9.69321E-5 41266 0 0.00100908
21-43691260-G-A p.Gly231Arg missense ABCG1 6 82606 7.26339E-5 41303 0 1.28019E-4
21-43691262-G-A p.Gly231Gly synonymous ABCG1 1 82640 1.21007E-5 41320 0 NA
21-43691264-A-G p.Lys232Arg missense ABCG1 1 82628 1.21024E-5 41314 0 NA
21-43691271-G-A p.Thr234Thr synonymous ABCG1 3 82584 3.63266E-5 41292 0 6.97389E-5
21-43691292-A-G p.Gly241Gly synonymous ABCG1 2 82494 2.42442E-5 41247 0 5.94377E-5
21-43691302-G-A c.728+5G>A splice_region ABCG1 3 82274 3.64635E-5 41137 0 1.92888E-4
21-43693418-C-T p.Thr245Met missense ABCG1 3 82272 3.64644E-5 41136 0 1.69973E-5
21-43693419-G-A p.Thr245Thr synonymous ABCG1 1 82346 1.21439E-5 41173 0 4.01345E-6
21-43693434-C-T p.Ala250Ala synonymous ABCG1 1 82510 1.21197E-5 41255 0 1.67687E-5
21-43693441-A-G p.Ile253Val missense ABCG1 1 82604 1.2106E-5 41302 0 3.34174E-5
21-43693447-G-A p.Gly255Ser missense ABCG1 1 82686 1.20939E-5 41343 0 8.34126E-6
21-43693455-C-G p.Pro257Pro synonymous ABCG1 149 82730 0.00180104 41365 0 0.00567385
21-43693512-G-A p.Leu276Leu synonymous ABCG1 1 82628 1.21024E-5 41314 0 3.18552E-5
21-43693518-G-T p.Pro278Pro synonymous ABCG1 1 82570 1.21109E-5 41285 0 NA
21-43693519-C-T p.His279Tyr missense ABCG1 2 82564 2.42236E-5 41282 0 NA
21-43693532-A-G p.Gln283Arg missense ABCG1 1 82324 1.21471E-5 41162 0 NA
21-43693547-T-TCAAG c.861+2_861+3insCAAG splice_region ABCG1 1 81806 1.2224E-5 40903 0 NA
21-43696999-C-T c.862-6C>T splice_region ABCG1 4415 83214 0.053056 41607 174 0.160625
21-43697002-C-T c.862-3C>T splice_region ABCG1 1 83322 1.20016E-5 41661 0 NA
21-43697005-G-A p.Val288Met missense+splice_region ABCG1 1 83342 1.19988E-5 41671 0 NA
21-43697009-C-T p.Ser289Leu missense ABCG1 65 83350 7.79844E-4 41675 0 7.91048E-4
21-43697010-G-A p.Ser289Ser synonymous ABCG1 1 83344 1.19985E-5 41672 0 3.18492E-5
21-43697029-G-A p.Glu296Lys missense ABCG1 2 83378 2.39871E-5 41689 0 NA
21-43697029-GAGA-G p.Lys297del conservative_inframe_deletion ABCG1 1 83378 1.19936E-5 41689 0 NA
21-43697032-A-G p.Lys297Glu missense ABCG1 1 83372 1.19944E-5 41686 0 NA
21-43697049-G-A p.Arg302Arg synonymous ABCG1 1 83392 1.19916E-5 41696 0 3.18451E-5
21-43697052-A-T p.Glu303Asp missense ABCG1 1 83384 1.19927E-5 41692 0 NA
21-43697052-A-G p.Glu303Glu synonymous ABCG1 1 83384 1.19927E-5 41692 0 NA
21-43697056-G-C c.912+1G>C splice_donor ABCG1 1 83374 1.19941E-5 41687 0 NA
21-43702376-G-GC c.913-8_913-7insC splice_region ABCG1 3 81802 3.66739E-5 40901 0 8.55022E-6
21-43702377-C-T c.913-7C>T splice_region ABCG1 1 81868 1.22148E-5 40934 0 1.70864E-5
21-43702390-G-C p.Glu307Gln missense ABCG1 1 82446 1.21292E-5 41223 0 NA
21-43702395-A-G p.Ile308Met missense ABCG1 1 82550 1.21139E-5 41275 0 NA
21-43702396-C-G p.Leu309Val missense ABCG1 1 82586 1.21086E-5 41293 0 NA
21-43702398-G-A p.Leu309Leu synonymous ABCG1 1 82616 1.21042E-5 41308 0 6.37024E-5
21-43702400-CAG-C p.Leu312fs frameshift ABCG1 2 82610 2.42101E-5 41305 0 3.99275E-6
21-43702404-G-T p.Ala311Ala synonymous ABCG1 7 82600 8.47458E-5 41300 0 5.58704E-5
21-43702404-G-A p.Ala311Ala synonymous ABCG1 5 82600 6.05327E-5 41300 0 0.00151057
21-43702418-C-A p.Ser316Tyr missense ABCG1 1 82826 1.20735E-5 41413 0 1.66179E-5
21-43702422-C-T p.Cys317Cys synonymous ABCG1 7 82814 8.45268E-5 41407 0 6.36902E-5
21-43702423-G-A p.Ala318Thr missense ABCG1 2 82824 2.41476E-5 41412 0 4.15269E-5
21-43702427-A-G p.Asn319Ser missense ABCG1 6 82846 7.24235E-5 41423 0 1.99244E-5
21-43702430-C-T p.Thr320Met missense ABCG1 7 82826 8.45145E-5 41413 0 3.18451E-5
21-43702431-G-A p.Thr320Thr synonymous ABCG1 1 82818 1.20747E-5 41409 0 6.25E-4
21-43702432-C-T p.Arg321Trp missense ABCG1 3 82828 3.62196E-5 41414 0 1.65904E-5
21-43702438-G-A p.Gly323Arg missense ABCG1 1 82898 1.2063E-5 41449 0 3.18573E-5
21-43702450-G-A p.Gly327Ser missense ABCG1 5 82938 6.0286E-5 41469 0 8.27897E-6
21-43702455-T-A p.Gly328Gly synonymous ABCG1 4 82922 4.82381E-5 41461 0 9.5584E-5
21-43702460-G-A p.Arg330His missense ABCG1 1 82934 1.20578E-5 41467 0 3.98356E-6
21-43702465-C-T p.Arg332Cys missense ABCG1 3 82978 3.61542E-5 41489 0 8.27034E-6
21-43702476-C-T p.Ile335Ile synonymous ABCG1 5 83004 6.02381E-5 41502 0 4.96212E-5
21-43702479-G-A p.Ala336Ala synonymous ABCG1 5 83006 6.02366E-5 41503 0 6.37024E-5
21-43702483-G-C p.Glu338Gln missense ABCG1 1 83014 1.20462E-5 41507 0 3.98314E-6
21-43702505-T-C p.Val345Ala missense ABCG1 2 82990 2.40993E-5 41495 0 8.31421E-6
21-43702515-C-T p.Phe348Phe synonymous ABCG1 1 82952 1.20552E-5 41476 0 3.18552E-5
21-43702516-G-A p.Asp349Asn missense ABCG1 1 82942 1.20566E-5 41471 0 8.33903E-6
21-43702518-T-C p.Asp349Asp synonymous ABCG1 1 82916 1.20604E-5 41458 0 NA
21-43702524-C-A p.Pro351Pro synonymous ABCG1 1 82894 1.20636E-5 41447 0 1.20069E-5
21-43702525-A-ACCAGCGGCCTGGACAGCGCCTCCTGCTT p.Ile335fs frameshift ABCG1 1 82870 1.20671E-5 41435 0 NA
21-43702529-G-GC c.1058_1058+1insC splice_donor ABCG1 4 82846 4.82824E-5 41423 1 NA
21-43702533-A-C c.1058+4A>C splice_region ABCG1 1 82778 1.20805E-5 41389 0 NA
21-43702533-A-G c.1058+4A>G splice_region ABCG1 1 82778 1.20805E-5 41389 0 3.18613E-5
21-43704670-C-T p.Ser353Ser splice_region+synonymous ABCG1 4 82240 4.86381E-5 41120 0 6.37146E-5
21-43704670-C-G p.Ser353Arg missense+splice_region ABCG1 2 82240 2.43191E-5 41120 0 NA
21-43704671-G-A p.Gly354Ser missense+splice_region ABCG1 7 82284 8.50712E-5 41142 0 6.71885E-5
21-43704673-C-G p.Gly354Gly synonymous ABCG1 2 82324 2.42943E-5 41162 0 3.99795E-6
21-43704676-G-T p.Leu355Leu synonymous ABCG1 1 82450 1.21286E-5 41225 0 3.99568E-6
21-43704682-C-T p.Ser357Ser synonymous ABCG1 2 82496 2.42436E-5 41248 0 5.03525E-4
21-43704683-G-A p.Ala358Thr missense ABCG1 9 82542 1.09035E-4 41271 0 2.83607E-4
21-43704706-G-A p.Ser365Ser synonymous ABCG1 24 82960 2.89296E-4 41480 0 0.00553877
21-43704721-C-T p.Leu370Leu synonymous ABCG1 8 83090 9.62811E-5 41545 0 2.78611E-5
21-43704722-G-A p.Ala371Thr missense ABCG1 40 83096 4.81371E-4 41548 0 0.00125
21-43704728-G-T p.Gly373Trp missense ABCG1 1 83140 1.20279E-5 41570 0 8.26665E-6
21-43704730-G-C p.Gly373Gly synonymous ABCG1 1 83132 1.20291E-5 41566 0 NA
21-43704732-G-A p.Gly374Asp missense ABCG1 2 83112 2.40639E-5 41556 0 6.37267E-5
21-43704734-C-T p.Arg375Cys missense ABCG1 3 83122 3.60915E-5 41561 0 3.98013E-6
21-43704735-G-A p.Arg375His missense ABCG1 1 83134 1.20288E-5 41567 0 8.26528E-6
21-43704739-C-A p.Ser376Ser synonymous ABCG1 1 83164 1.20244E-5 41582 0 NA
21-43704743-A-G p.Ile378Val missense ABCG1 1 83178 1.20224E-5 41589 0 NA
21-43704757-C-T p.His257His splice_region+synonymous ABCG1 1 83138 1.20282E-5 41569 0 8.26597E-6
21-43704766-C-T p.Ser385Ser synonymous ABCG1 2 83092 2.40697E-5 41546 0 1.65352E-5
21-43704767-G-A p.Ala386Thr missense ABCG1 1 83078 1.20369E-5 41539 0 8.26911E-6
21-43704778-C-T p.Phe389Phe synonymous ABCG1 3 83048 3.61237E-5 41524 0 5.79518E-5
21-43704779-G-A p.Glu390Lys missense ABCG1 1 83046 1.20415E-5 41523 0 1.65566E-5
21-43704784-G-C p.Leu391Leu synonymous ABCG1 5 82988 6.02497E-5 41494 0 8.28322E-5
21-43704787-C-T p.Phe392Phe synonymous ABCG1 7 82928 8.44106E-5 41464 0 2.86752E-4
21-43704788-G-A p.Asp393Asn missense ABCG1 2 82912 2.4122E-5 41456 0 7.99099E-6
21-43704791-C-T p.Gln394* stop_gained ABCG1 1 82882 1.20653E-5 41441 0 1.19894E-5
21-43704797-C-T c.1182+4C>T splice_region ABCG1 2 82720 2.41779E-5 41360 0 9.5584E-5
21-43704798-G-A c.1182+5G>A splice_region ABCG1 4 82656 4.83933E-5 41328 0 4.98331E-5
21-43704799-C-T c.1182+6C>T splice_region ABCG1 15 82568 1.81668E-4 41284 0 2.8677E-4
21-43704800-G-A c.1182+7G>A splice_region ABCG1 15 82570 1.81664E-4 41285 0 9.64018E-5
21-43705995-C-T p.Tyr396Tyr synonymous ABCG1 10 83306 1.20039E-4 41653 0 1.19438E-4
21-43705996-G-A p.Val397Ile missense ABCG1 2 83312 2.40061E-5 41656 0 6.37552E-5
21-43706003-G-C p.Ser399Thr missense ABCG1 3 83330 3.60014E-5 41665 0 NA
21-43706013-A-G p.Gln402Gln synonymous ABCG1 2 83342 2.39975E-5 41671 0 NA
21-43706017-G-A p.Val404Met missense ABCG1 5 83354 5.99851E-5 41677 0 4.11828E-5
21-43706023-C-T p.Arg406Trp missense ABCG1 8 83358 9.59716E-5 41679 0 1.11347E-4
21-43706024-G-A p.Arg406Gln missense ABCG1 2 83358 2.39929E-5 41679 0 3.18573E-5
21-43706025-G-C p.Arg406Arg synonymous ABCG1 1 83360 1.19962E-5 41680 0 NA
21-43706050-T-C p.Tyr415His missense ABCG1 3 83374 3.59824E-5 41687 0 1.91168E-4
21-43706075-G-T p.Cys423Phe missense ABCG1 1 83358 1.19964E-5 41679 0 NA
21-43706086-C-T p.His427Tyr missense ABCG1 1 83344 1.19985E-5 41672 0 NA
21-43706104-G-GTCATGGAGGTTGCATCCGGCGA c.1297_1297+1insTCATGGAGGTTGCATCCGGCGA splice_donor ABCG1 1 83312 1.20031E-5 41656 0 NA
21-43706107-A-C c.1297+3A>C splice_region ABCG1 1 83280 1.20077E-5 41640 0 NA
21-43706110-C-T c.1297+6C>T splice_region ABCG1 1 83250 1.2012E-5 41625 0 9.94716E-5
21-43706111-G-A c.1297+7G>A splice_region ABCG1 9 83256 1.081E-4 41628 0 7.41485E-5
21-43706112-G-A c.1297+8G>A splice_region ABCG1 2 83252 2.40234E-5 41626 0 NA
21-43708003-G-A p.Met434Ile missense ABCG1 1 83026 1.20444E-5 41513 0 NA
21-43708015-C-T p.Ser438Ser synonymous ABCG1 4 83050 4.81638E-5 41525 0 6.04282E-5
21-43708015-C-G p.Ser438Ser synonymous ABCG1 1 83050 1.20409E-5 41525 0 1.72652E-5
21-43708016-G-A p.Gly439Ser missense ABCG1 2 83060 2.4079E-5 41530 0 6.02306E-5
21-43708018-C-T p.Gly439Gly synonymous ABCG1 1784 83016 0.0214898 41508 30 0.0228877
21-43708024-C-T p.Tyr441Tyr synonymous ABCG1 1 83080 1.20366E-5 41540 0 3.39818E-5
21-43708025-G-A p.Gly442Ser missense ABCG1 2 83074 2.40749E-5 41537 0 4.0594E-6
21-43708041-G-A p.Arg447Gln missense ABCG1 7 83120 8.42156E-5 41560 0 0.003125
21-43708042-G-T p.Arg447Arg synonymous ABCG1 2 83134 2.40575E-5 41567 0 3.18552E-5
21-43708046-G-A p.Val449Met missense ABCG1 1 83138 1.20282E-5 41569 0 8.335E-6
21-43708054-G-A p.Ala451Ala synonymous ABCG1 6 83148 7.21605E-5 41574 0 3.18654E-5
21-43708059-G-A p.Arg453Gln missense ABCG1 8 83142 9.62209E-5 41571 0 1.4095E-4
21-43708059-G-C p.Arg453Pro missense ABCG1 2 83142 2.40552E-5 41571 0 NA
21-43708060-G-A p.Arg453Arg synonymous ABCG1 2 83164 2.40489E-5 41582 0 7.96597E-6
21-43708067-A-T p.Met456Leu missense ABCG1 2 83198 2.4039E-5 41599 0 1.65637E-5
21-43708069-G-C p.Met456Ile missense ABCG1 2 83208 2.40361E-5 41604 0 NA
21-43708071-G-T p.Cys457Phe missense ABCG1 1 83212 1.20175E-5 41606 0 NA
21-43708078-A-G p.Ser459Ser synonymous ABCG1 1 83228 1.20152E-5 41614 0 8.27691E-6
21-43708097-G-A p.Gly466Arg missense ABCG1 101 83238 0.00121339 41619 1 7.01083E-4
21-43708100-G-T p.Gly467Cys missense ABCG1 2 83258 2.40217E-5 41629 0 3.18695E-5
21-43708101-G-T p.Gly467Val missense ABCG1 2 83252 2.40234E-5 41626 0 1.19537E-5
21-43708102-T-C p.Gly467Gly synonymous ABCG1 2 83244 2.40258E-5 41622 0 9.57304E-5
21-43708108-C-T p.Ala469Ala synonymous ABCG1 1 83248 1.20123E-5 41624 0 3.19E-5
21-43708109-G-A p.Glu470Lys missense ABCG1 6 83252 7.20703E-5 41626 0 6.6257E-5
21-43708116-A-T p.Asn472Ile missense ABCG1 2 83264 2.402E-5 41632 0 NA
21-43708134-G-A p.Arg478Gln missense ABCG1 3 83258 3.60326E-5 41629 0 4.01523E-5
21-43708134-G-T p.Arg478Leu missense ABCG1 1 83260 1.20106E-5 41630 0 NA
21-43708141-T-C p.Ser480Ser synonymous ABCG1 1 83270 1.20091E-5 41635 0 NA
21-43708153-G-A c.1155+6G>A splice_region ABCG1 2 83252 2.40234E-5 41626 0 NA
21-43708164-G-A p.Arg488Gln missense ABCG1 2 83266 2.40194E-5 41633 0 6.37105E-5
21-43708168-A-C p.Leu489Phe missense ABCG1 6 83280 7.20461E-5 41640 0 6.83197E-5
21-43708177-G-C p.Leu492Phe missense ABCG1 1 83288 1.20065E-5 41644 0 NA
21-43708184-G-A c.1482+1G>A splice_donor ABCG1 1 83284 1.20071E-5 41642 0 NA
21-43708189-G-A c.1482+6G>A splice_region ABCG1 5 83274 6.00428E-5 41637 0 9.55657E-5
21-43708316-C-T c.1483-5C>T splice_region ABCG1 3 83206 3.60551E-5 41603 0 3.97674E-5
21-43708325-C-T p.Ser496Phe missense ABCG1 1 83220 1.20163E-5 41610 0 NA
21-43708326-C-G p.Ser496Ser synonymous ABCG1 1 83224 1.20158E-5 41612 0 NA
21-43708326-C-T p.Ser496Ser synonymous ABCG1 8 83224 9.61261E-5 41612 0 4.11957E-5
21-43708328-C-T p.Ser497Leu missense ABCG1 5 83226 6.00774E-5 41613 0 6.36274E-5
21-43708329-G-A p.Ser497Ser synonymous ABCG1 33 83226 3.96511E-4 41613 1 7.32717E-4
21-43708334-T-G p.Met499Arg missense ABCG1 1 83250 1.2012E-5 41625 0 NA
21-43708340-G-T p.Gly501Val missense ABCG1 1 83262 1.20103E-5 41631 0 NA
21-43708341-C-T p.Gly501Gly synonymous ABCG1 2 83280 2.40154E-5 41640 0 NA
21-43708357-G-A p.Ala507Thr missense ABCG1 2 83302 2.4009E-5 41651 0 2.78359E-5
21-43708370-C-T p.Thr511Met missense ABCG1 3 83336 3.59988E-5 41668 0 1.64794E-5
21-43708371-G-A p.Thr511Thr synonymous ABCG1 25 83332 3.00005E-4 41666 0 6.25E-4
21-43708391-A-G p.Lys518Arg missense ABCG1 2 83326 2.40021E-5 41663 0 7.95596E-6
21-43708398-C-T p.Thr520Thr synonymous ABCG1 1 83312 1.20031E-5 41656 0 7.95805E-6
21-43708412-T-C p.Met525Thr missense ABCG1 1 83268 1.20094E-5 41634 0 8.27157E-6
21-43708419-C-T p.Asp527Asp synonymous ABCG1 1 83236 1.2014E-5 41618 0 1.25579E-5
21-43708421-C-T p.Ser528Leu missense+splice_region ABCG1 2 83222 2.40321E-5 41611 0 2.57909E-5
21-43708422-G-A p.Ser528Ser splice_region+synonymous ABCG1 24 83224 2.88378E-4 41612 0 0.00201613
21-43708426-A-G c.1584+4A>G splice_region ABCG1 1 83210 1.20178E-5 41605 0 NA
21-43710163-C-T p.Leu530Leu synonymous ABCG1 20 83202 2.40379E-4 41601 0 1.71027E-4
21-43710186-G-A p.Ser537Ser synonymous ABCG1 1 83342 1.19988E-5 41671 0 1.59061E-5
21-43710187-C-T p.His538Tyr missense ABCG1 1 83348 1.19979E-5 41674 0 NA
21-43710190-A-G p.Ile539Val missense ABCG1 1 83366 1.19953E-5 41683 0 NA
21-43710198-C-T p.Ile541Ile synonymous ABCG1 1 83374 1.19941E-5 41687 0 6.25E-4
21-43710199-G-A p.Gly542Ser missense ABCG1 1 83376 1.19939E-5 41688 0 8.23655E-6
21-43710204-C-T p.Leu543Leu synonymous ABCG1 1 83396 1.1991E-5 41698 0 6.25E-4
21-43710234-G-A p.Gly553Gly synonymous ABCG1 10 83392 1.19916E-4 41696 0 9.14542E-5
21-43710237-C-T p.Asn554Asn synonymous ABCG1 2 83396 2.3982E-5 41698 0 7.9526E-6
21-43710260-A-G p.Asn562Ser missense ABCG1 1 83390 1.19918E-5 41695 0 3.18857E-5
21-43710263-C-A p.Ser563Tyr missense ABCG1 2 83386 2.39848E-5 41693 0 3.18512E-5
21-43710264-C-T p.Ser563Ser synonymous ABCG1 1 83390 1.19918E-5 41695 0 3.29468E-5
21-43710279-C-T p.Phe568Phe synonymous ABCG1 78 83374 9.35543E-4 41687 1 0.00258126
21-43710296-T-C p.Met574Thr missense ABCG1 1 83352 1.19973E-5 41676 0 1.19291E-5
21-43710303-G-C p.Ala576Ala synonymous ABCG1 951 83304 0.011416 41652 36 0.0258054
21-43710303-G-A p.Ala576Ala synonymous ABCG1 1 83324 1.20013E-5 41662 0 8.24103E-6
21-43710327-A-T p.Thr584Thr splice_region+synonymous ABCG1 1 83258 1.20109E-5 41629 0 NA
21-43711197-C-T c.1754-5C>T splice_region ABCG1 2 83012 2.40929E-5 41506 0 3.18471E-5
21-43711218-A-G p.Gly590Gly synonymous ABCG1 8 83188 9.61677E-5 41594 1 0.00100705
21-43711244-A-G p.Tyr599Cys missense ABCG1 2 83240 2.40269E-5 41620 0 1.66998E-5
21-43711272-G-A p.Leu608Leu synonymous ABCG1 1 83220 1.20163E-5 41610 0 3.97972E-6
21-43711290-C-T p.Asp614Asp synonymous ABCG1 5 83160 6.01251E-5 41580 0 6.25E-4
21-43711291-G-A p.Val615Met missense ABCG1 1 83156 1.20256E-5 41578 0 3.18471E-5
21-43711305-G-A c.1854+3G>A splice_region ABCG1 5 83074 6.01873E-5 41537 0 6.36943E-5
21-43711600-GTTTCCAGATCA-G p.Ile619fs frameshift ABCG1 1 82900 1.20627E-5 41450 0 NA
21-43711605-C-T c.1855-3C>T splice_region ABCG1 38 82954 4.58085E-4 41477 0 6.25E-4
21-43711612-T-C p.Met620Thr missense ABCG1 1 83020 1.20453E-5 41510 0 8.40477E-6
21-43711631-C-T p.Cys626Cys synonymous ABCG1 1 83094 1.20346E-5 41547 0 3.18634E-5
21-43711636-T-C p.Ile628Thr missense ABCG1 1 83108 1.20325E-5 41554 0 NA
21-43711638-G-A p.Val629Met missense ABCG1 1 83112 1.2032E-5 41556 0 1.59474E-5
21-43711638-G-C p.Val629Leu missense ABCG1 2 83112 2.40639E-5 41556 0 NA
21-43711640-G-A p.Val629Val synonymous ABCG1 4 83124 4.81209E-5 41562 0 1.65527E-5
21-43711652-G-A p.Thr633Thr synonymous ABCG1 1 83072 1.20378E-5 41536 0 NA
21-43711655-G-A p.Ser634Ser synonymous ABCG1 42 83042 5.05768E-4 41521 0 0.00125
21-43711661-G-A p.Pro636Pro synonymous ABCG1 3 83022 3.6135E-5 41511 0 4.78267E-5
21-43711664-C-T p.Ser637Ser synonymous ABCG1 6 83008 7.22822E-5 41504 0 1.27559E-4
21-43711665-G-A p.Asp638Asn missense ABCG1 2 83000 2.40964E-5 41500 0 7.97366E-6
21-43711668-G-A p.Ala639Thr missense ABCG1 1 82986 1.20502E-5 41493 0 6.60895E-5
21-43711671-G-A p.Val640Met missense ABCG1 8 83000 9.63855E-5 41500 0 6.25E-4
21-43711675-G-A p.Arg641His missense ABCG1 1 83020 1.20453E-5 41510 0 NA
21-43711691-C-T p.Ala646Ala synonymous ABCG1 4 82912 4.82439E-5 41456 0 1.27608E-4
21-43711722-C-T p.Gln657* stop_gained ABCG1 1 82652 1.20989E-5 41326 0 NA
21-43711722-CAGT-GGGA p.GlnSer657GlyThr missense ABCG1 1 82652 1.20989E-5 41326 0 NA
21-43711737-C-T p.Leu662Leu synonymous ABCG1 1 82518 1.21186E-5 41259 0 NA
21-43711742-C-T p.Ile663Ile synonymous ABCG1 5 82420 6.06649E-5 41210 0 0.00302419
21-43711749-G-A p.Ala666Thr missense ABCG1 4 82128 4.87045E-5 41064 0 3.90297E-5
21-43711754-C-T p.Ser667Ser synonymous ABCG1 58 82024 7.0711E-4 41012 0 0.00194553
21-43711756-C-T p.Thr668Met missense ABCG1 2 81974 2.4398E-5 40987 0 2.05398E-5
21-43711757-G-C p.Thr668Thr synonymous ABCG1 3 81908 3.66265E-5 40954 0 3.18918E-5
21-43711757-G-A p.Thr668Thr synonymous ABCG1 4 81908 4.88353E-5 40954 0 1.05152E-5
21-43711770-C-T c.2013+4C>T splice_region ABCG1 1 81578 1.22582E-5 40789 0 NA
21-43714648-C-G c.2014-4C>G splice_region ABCG1 8 82348 9.71487E-5 41174 0 3.29837E-5
21-43714663-C-T p.Phe675Phe synonymous ABCG1 1 82608 1.21054E-5 41304 0 NA
21-43714669-C-T p.Gly677Gly synonymous ABCG1 1 82776 1.20808E-5 41388 0 7.96007E-6
21-43714672-A-G p.Pro678Pro synonymous ABCG1 1 82858 1.20688E-5 41429 0 2.47374E-5
21-43714675-G-A p.Val679Val synonymous ABCG1 1 82922 1.20595E-5 41461 0 NA
21-43714687-G-T p.Pro683Pro synonymous ABCG1 1 83010 1.20467E-5 41505 0 NA
21-43714691-C-T p.Leu685Phe missense ABCG1 1 83062 1.20392E-5 41531 0 NA
21-43714701-C-T p.Ser688Leu missense ABCG1 1 83090 1.20351E-5 41545 0 8.24606E-6
21-43714702-G-A p.Ser688Ser synonymous ABCG1 2 83086 2.40714E-5 41543 0 1.64946E-5
21-43714703-G-A p.Gly689Arg missense ABCG1 2 83096 2.40685E-5 41548 0 NA
21-43714711-C-T p.Phe691Phe synonymous ABCG1 1 83124 1.20302E-5 41562 0 3.18674E-5
21-43714712-G-A p.Val692Ile missense ABCG1 7 83122 8.42136E-5 41561 0 1.19322E-5
21-43714720-C-T p.Phe694Phe synonymous ABCG1 11 83112 1.32352E-4 41556 0 8.94938E-4
21-43714754-T-C p.Tyr706His missense ABCG1 2 83070 2.40761E-5 41535 0 4.95148E-5
21-43714755-A-G p.Tyr706Cys missense ABCG1 1 83066 1.20386E-5 41533 0 NA
21-43714756-C-T p.Tyr706Tyr synonymous ABCG1 2 83060 2.4079E-5 41530 0 3.97738E-6
21-43714775-C-T c.2132+5C>T splice_region ABCG1 4 82822 4.82963E-5 41411 0 1.27421E-4
21-43714776-G-A c.2132+6G>A splice_region ABCG1 8 82826 9.6588E-5 41413 0 1.27389E-4
21-43716281-T-G p.Phe714Val missense ABCG1 1 82916 1.20604E-5 41458 0 NA
21-43716283-C-T p.Phe714Phe synonymous ABCG1 16 82974 1.92831E-4 41487 0 3.18878E-5
21-43716290-G-T p.Val717Phe missense ABCG1 1 83164 1.20244E-5 41582 0 NA
21-43716298-C-T p.Leu719Leu synonymous ABCG1 2 83218 2.40333E-5 41609 0 8.23805E-6
21-43716317-C-T p.Arg726Trp missense ABCG1 16 83320 1.92031E-4 41660 0 9.14709E-5
21-43716329-C-T p.His730Tyr missense ABCG1 3 83350 3.59928E-5 41675 0 4.9421E-5
21-43716330-A-G p.His730Arg missense ABCG1 1 83346 1.19982E-5 41673 0 3.18573E-5
21-43716343-C-T p.Asp734Asp synonymous ABCG1 49 83362 5.87798E-4 41681 0 0.00114745
21-43716344-G-C p.Glu735Gln missense ABCG1 1 83366 1.19953E-5 41683 0 NA
21-43716348-C-T p.Thr736Met missense ABCG1 1 83366 1.19953E-5 41683 0 6.37146E-5
21-43716349-G-T p.Thr736Thr synonymous ABCG1 3 83368 3.5985E-5 41684 0 8.23683E-6
21-43716349-G-A p.Thr736Thr synonymous ABCG1 4 83368 4.798E-5 41684 0 6.58946E-5
21-43716366-C-T p.Ser742Leu missense ABCG1 2 83382 2.3986E-5 41691 0 8.23696E-6
21-43716367-G-A p.Ser742Ser synonymous ABCG1 3 83388 3.59764E-5 41694 0 5.03525E-4
21-43716381-G-A p.Arg747Gln missense ABCG1 2 83398 2.39814E-5 41699 0 1.64737E-5
21-43716391-C-T p.Asp750Asp synonymous ABCG1 3 83396 3.59729E-5 41698 0 6.37471E-5
21-43716409-G-A p.Leu756Leu synonymous ABCG1 2 83388 2.39843E-5 41694 0 NA
21-43716425-G-A p.Val762Ile missense ABCG1 1 83396 1.1991E-5 41698 0 1.19293E-5
21-43716430-C-T p.Leu763Leu synonymous ABCG1 64 83386 7.67515E-4 41693 0 0.00302115
21-43716432-G-T p.Gly764Val missense ABCG1 2 83386 2.39848E-5 41693 0 3.19E-5
21-43716436-T-A p.Ile765Ile synonymous ABCG1 1 83386 1.19924E-5 41693 0 NA
21-43716442-C-G p.Phe767Leu missense ABCG1 1 83374 1.19941E-5 41687 0 NA
21-43716452-C-T p.Arg771Cys missense ABCG1 1 83350 1.19976E-5 41675 0 3.97671E-6
21-43716453-G-A p.Arg771His missense ABCG1 1 83352 1.19973E-5 41676 0 3.97703E-6
21-43716472-C-T p.Val777Val synonymous ABCG1 1 83286 1.20068E-5 41643 0 3.19E-5
21-43716473-C-T p.Leu778Phe missense ABCG1 2 83284 2.40142E-5 41642 0 NA
21-43716487-C-A p.Ile782Ile synonymous ABCG1 2 83162 2.40494E-5 41581 0 NA
21-43716489-G-A p.Arg783Gln missense ABCG1 2 83136 2.4057E-5 41568 0 2.791E-5