Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-119020291-C-T c.-120C>T 5_prime_UTR_premature_start_codon_gain ABCG4 5 3606 0.00138658 1803 0 0.00269438
11-119020392-C-T c.-19C>T 5_prime_UTR_premature_start_codon_gain ABCG4 1 28012 3.5699E-5 14006 0 NA
11-119020613-T-G c.-63T>G 5_prime_UTR_premature_start_codon_gain ABCG4 3 79780 3.76034E-5 39890 0 NA
11-119020624-C-T c.-52C>T 5_prime_UTR_premature_start_codon_gain ABCG4 4 80130 4.99189E-5 40065 0 NA
11-119020625-G-T c.-51G>T 5_prime_UTR_premature_start_codon_gain ABCG4 1 80150 1.24766E-5 40075 0 NA
11-119020641-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain ABCG4 24 80796 2.97044E-4 40398 0 0.00191083
11-119020657-C-G c.-12-7C>G splice_region ABCG4 4 81368 4.91594E-5 40684 0 5.46145E-5
11-119020673-G-A c.-3G>A 5_prime_UTR_premature_start_codon_gain ABCG4 2 81526 2.45321E-5 40763 0 3.52566E-5
11-119020677-T-C p.Met1? start_lost ABCG4 1 81618 1.22522E-5 40809 0 8.24171E-6
11-119020680-C-T p.Ala2Val missense ABCG4 3 81596 3.67665E-5 40798 0 6.3861E-5
11-119020691-C-G p.Leu6Val missense ABCG4 1 81714 1.22378E-5 40857 0 8.61772E-6
11-119020711-A-G p.Gly12Gly synonymous ABCG4 1 82036 1.21898E-5 41018 0 NA
11-119020719-C-T p.Pro15Leu missense ABCG4 562 82170 0.00683948 41085 1 0.016875
11-119020720-G-A p.Pro15Pro synonymous ABCG4 1 82242 1.21592E-5 41121 0 NA
11-119020723-G-A p.Gly16Gly synonymous ABCG4 1 82288 1.21524E-5 41144 0 NA
11-119020724-G-C p.Ala17Pro missense ABCG4 1 82286 1.21527E-5 41143 0 8.40463E-6
11-119020726-T-G p.Ala17Ala synonymous ABCG4 4 82252 4.8631E-5 41126 0 9.57671E-5
11-119020743-C-T p.Thr23Met missense ABCG4 1 82378 1.21392E-5 41189 0 7.98767E-6
11-119020743-C-A p.Thr23Lys missense ABCG4 1 82378 1.21392E-5 41189 0 9.57488E-5
11-119020756-G-C p.Gly27Gly synonymous ABCG4 1 82568 1.21112E-5 41284 0 NA
11-119020759-G-A p.Ala28Ala synonymous ABCG4 2 82562 2.42242E-5 41281 0 8.30565E-6
11-119020763-C-T p.Pro30Ser missense ABCG4 1 82604 1.2106E-5 41302 0 9.56938E-5
11-119020765-C-G p.Pro30Pro synonymous ABCG4 1 82658 1.2098E-5 41329 0 NA
11-119020783-C-G p.His36Gln missense ABCG4 1 82760 1.20831E-5 41380 0 1.65481E-5
11-119020816-C-G p.Ala47Ala synonymous ABCG4 1 82910 1.20613E-5 41455 0 NA
11-119020819-G-A p.Gln48Gln synonymous ABCG4 1 82928 1.20587E-5 41464 0 9.56999E-5
11-119020821-G-A p.Arg49His missense ABCG4 1 82932 1.20581E-5 41466 0 8.25764E-6
11-119020825-C-G p.Phe50Leu missense ABCG4 1 82950 1.20555E-5 41475 0 8.25764E-6
11-119020839-A-G p.Lys55Arg missense ABCG4 1 82952 1.20552E-5 41476 0 8.25518E-6
11-119020858-C-T p.Ile61Ile synonymous ABCG4 77 82876 9.29099E-4 41438 0 0.0025
11-119020870-G-C p.Glu65Asp missense ABCG4 1 82872 1.20668E-5 41436 0 NA
11-119020871-C-A p.Leu66Met missense ABCG4 2 82878 2.41319E-5 41439 0 3.98032E-6
11-119020892-G-A p.Gly73Arg missense ABCG4 1 82700 1.20919E-5 41350 0 6.37308E-5
11-119020894-G-A p.Gly73Gly synonymous ABCG4 1 82660 1.20978E-5 41330 0 NA
11-119024731-T-C c.239-5T>C splice_region ABCG4 4 83276 4.8033E-5 41638 0 8.23968E-6
11-119024731-T-G c.239-5T>G splice_region ABCG4 1 83276 1.20083E-5 41638 0 NA
11-119024737-T-A p.Gly80Gly splice_region+synonymous ABCG4 2 83296 2.40108E-5 41648 0 3.97655E-6
11-119024747-C-T p.Leu84Phe missense ABCG4 1 83320 1.20019E-5 41660 0 NA
11-119024752-C-G p.Leu85Leu synonymous ABCG4 5 83332 6.0001E-5 41666 0 1.64753E-5
11-119024777-C-T p.Arg94Cys missense ABCG4 5 83334 5.99995E-5 41667 0 2.47121E-5
11-119024778-G-A p.Arg94His missense ABCG4 2 83336 2.39992E-5 41668 0 7.41339E-5
11-119024780-C-T p.Arg95Trp missense ABCG4 6 83336 7.19977E-5 41668 0 3.18613E-5
11-119024781-G-A p.Arg95Gln missense ABCG4 10 83342 1.19988E-4 41671 0 6.25E-4
11-119024788-G-A p.Leu97Leu synonymous ABCG4 1 83342 1.19988E-5 41671 0 NA
11-119024789-A-G p.Ile98Val missense ABCG4 1 83342 1.19988E-5 41671 0 NA
11-119024808-CAG-C p.Ala106fs frameshift ABCG4 1 83328 1.20008E-5 41664 0 NA
11-119024809-AG-A p.Ala106fs frameshift ABCG4 1 83328 1.20008E-5 41664 0 NA
11-119024814-C-G p.Ala106Gly missense ABCG4 1 83322 1.20016E-5 41661 0 NA
11-119024831-A-G p.Met112Val missense ABCG4 3 83288 3.60196E-5 41644 0 3.97703E-6
11-119024856-A-G c.356+3A>G splice_region ABCG4 1 83164 1.20244E-5 41582 0 5.96863E-5
11-119024968-AGG-A p.Glu120fs frameshift ABCG4 1 83194 1.20201E-5 41597 0 3.97848E-6
11-119024971-G-A p.Glu120Lys missense+splice_region ABCG4 1 83198 1.20195E-5 41599 0 3.97798E-6
11-119024973-G-A p.Glu120Glu synonymous ABCG4 1 83206 1.20184E-5 41603 0 NA
11-119025009-G-T p.Arg132Ser missense ABCG4 2 83192 2.40408E-5 41596 0 2.47178E-5
11-119025013-C-T p.Arg134Trp missense ABCG4 2 83196 2.40396E-5 41598 0 8.239E-6
11-119025014-G-A p.Arg134Gln missense ABCG4 1 83204 1.20187E-5 41602 0 1.64802E-5
11-119025026-C-A p.Thr138Asn missense ABCG4 1 83200 1.20192E-5 41600 0 3.18634E-5
11-119025033-C-G p.Arg140Arg synonymous ABCG4 1 83212 1.20175E-5 41606 0 NA
11-119025059-A-T p.Asp149Val missense ABCG4 2 83226 2.4031E-5 41613 0 4.11868E-5
11-119025074-C-T p.Pro154Leu missense ABCG4 10 83238 1.20137E-4 41619 0 1.5907E-5
11-119025075-G-A p.Pro154Pro synonymous ABCG4 8 83232 9.61169E-5 41616 0 9.56023E-5
11-119025083-C-T p.Thr157Met missense ABCG4 2 83246 2.40252E-5 41623 0 5.03525E-4
11-119025084-G-A p.Thr157Thr synonymous ABCG4 4 83234 4.80573E-5 41617 0 1.19309E-5
11-119025230-C-T c.490-5C>T splice_region ABCG4 3 83304 3.60127E-5 41652 0 8.24987E-6
11-119025238-T-A p.Ser165Thr missense ABCG4 1 83306 1.20039E-5 41653 0 3.1841E-5
11-119025242-C-T p.Ala166Val missense ABCG4 1 83290 1.20062E-5 41645 0 NA
11-119025256-A-C p.Ser171Arg missense ABCG4 1 83290 1.20062E-5 41645 0 NA
11-119025257-G-A p.Ser171Asn missense ABCG4 2 83288 2.40131E-5 41644 1 NA
11-119025270-G-A p.Glu175Glu synonymous ABCG4 43 83264 5.1643E-4 41632 0 0.00956697
11-119025278-A-T p.Lys178Met missense ABCG4 1 83240 1.20135E-5 41620 0 NA
11-119025279-G-A p.Lys178Lys synonymous ABCG4 1000 83204 0.0120187 41602 31 0.0252548
11-119025284-T-C p.Leu180Pro missense+splice_region ABCG4 3 83220 3.6049E-5 41610 0 2.56039E-4
11-119025293-G-A c.540+8G>A splice_region ABCG4 34 83184 4.08732E-4 41592 0 7.32251E-4
11-119025480-G-A p.Val181Met missense+splice_region ABCG4 1 82548 1.21142E-5 41274 0 5.04032E-4
11-119025485-A-G p.Thr182Thr synonymous ABCG4 5 82712 6.04507E-5 41356 0 8.39208E-5
11-119025497-G-A p.Thr186Thr synonymous ABCG4 2 82884 2.41301E-5 41442 0 1.59357E-4
11-119025514-C-T p.Ser192Leu missense ABCG4 15 83062 1.80588E-4 41531 0 2.86807E-4
11-119025515-G-A p.Ser192Ser synonymous ABCG4 3 83066 3.61159E-5 41533 0 3.5836E-5
11-119025524-C-T p.His195His synonymous ABCG4 1 83142 1.20276E-5 41571 0 NA
11-119025526-C-T p.Thr196Met missense ABCG4 75 83148 9.02006E-4 41574 1 9.01378E-4
11-119025527-G-A p.Thr196Thr synonymous ABCG4 3 83164 3.60733E-5 41582 0 2.48036E-5
11-119025527-G-C p.Thr196Thr synonymous ABCG4 1 83164 1.20244E-5 41582 0 NA
11-119025548-C-A p.Gly203Gly synonymous ABCG4 1 83228 1.20152E-5 41614 0 NA
11-119025549-G-A p.Gly204Arg missense ABCG4 4 83234 4.80573E-5 41617 0 1.65229E-5
11-119025557-G-A p.Arg206Arg synonymous ABCG4 1 83262 1.20103E-5 41631 0 NA
11-119025572-C-T p.Ile211Ile synonymous ABCG4 5 83250 6.00601E-5 41625 0 9.09091E-5
11-119025573-G-A p.Ala212Thr missense ABCG4 2 83244 2.40258E-5 41622 0 8.2646E-6
11-119025575-C-T p.Ala212Ala synonymous ABCG4 2 83264 2.402E-5 41632 0 6.37511E-5
11-119025596-G-A p.Pro219Pro synonymous ABCG4 1 83296 1.20054E-5 41648 0 5.97029E-5
11-119025602-C-G p.Val221Val synonymous ABCG4 2 83304 2.40085E-5 41652 0 8.31338E-6
11-119025618-C-G p.Pro227Ala missense ABCG4 2 83260 2.40211E-5 41630 0 0.00251762
11-119026469-A-T c.-961A>T 5_prime_UTR_premature_start_codon_gain ABCG4 3 36 0.0833333 18 0 0.109722
11-119026861-G-T c.-569G>T 5_prime_UTR_premature_start_codon_gain ABCG4 1 72306 1.38301E-5 36153 0 NA
11-119026900-C-T c.-530C>T 5_prime_UTR_premature_start_codon_gain ABCG4 1 77378 1.29236E-5 38689 0 3.18431E-5
11-119026969-C-T c.-461C>T 5_prime_UTR_premature_start_codon_gain ABCG4 30 82610 3.63152E-4 41305 0 3.50318E-4
11-119027008-C-T c.-422C>T 5_prime_UTR_premature_start_codon_gain ABCG4 12 83226 1.44186E-4 41613 1 6.25E-4
11-119027009-G-T c.-421G>T 5_prime_UTR_premature_start_codon_gain ABCG4 7 83226 8.41083E-5 41613 0 1.0725E-4
11-119027051-C-T p.Ser233Ser synonymous ABCG4 1 83300 1.20048E-5 41650 0 NA
11-119027052-G-C p.Ala234Pro missense ABCG4 1 83302 1.20045E-5 41651 0 NA
11-119027070-G-T p.Val240Leu missense ABCG4 2 83310 2.40067E-5 41655 0 3.97633E-6
11-119027078-C-T p.Leu242Leu synonymous ABCG4 1 83306 1.20039E-5 41653 0 8.23683E-6
11-119027097-G-T p.Gly249Trp missense ABCG4 2 83304 2.40085E-5 41652 0 NA
11-119027100-G-A p.Gly250Ser missense ABCG4 1 83286 1.20068E-5 41643 0 3.9763E-6
11-119027102-C-G p.Gly250Gly synonymous ABCG4 1 83284 1.20071E-5 41642 0 NA
11-119027111-C-G p.Ile253Met missense ABCG4 3 83292 3.60179E-5 41646 0 3.18613E-5
11-119027132-C-G p.Pro260Pro synonymous ABCG4 1 83254 1.20114E-5 41627 0 NA
11-119027134-G-T p.Ser261Ile missense ABCG4 4 83242 4.80527E-5 41621 0 NA
11-119027142-C-T p.Leu264Phe missense ABCG4 13 83228 1.56197E-4 41614 0 9.55292E-5
11-119027150-G-A p.Glu266Glu synonymous ABCG4 15 83208 1.80271E-4 41604 0 4.14013E-4
11-119027162-GGTGA-G c.810+4_810+7delAGTG splice_region ABCG4 2 83148 2.40535E-5 41574 0 3.18512E-5
11-119027238-C-T c.-192C>T 5_prime_UTR_premature_start_codon_gain ABCG4 5 83168 6.01193E-5 41584 0 6.37471E-5
11-119027265-C-T c.-165C>T 5_prime_UTR_premature_start_codon_gain ABCG4 3 83274 3.60256E-5 41637 0 9.55962E-5
11-119027271-C-T c.811-3C>T splice_region ABCG4 15 83282 1.80111E-4 41641 0 4.14118E-4
11-119027289-C-T p.Gln276* stop_gained ABCG4 1 83302 1.20045E-5 41651 0 NA
11-119027296-A-G p.Gln278Arg missense ABCG4 1 83306 1.20039E-5 41653 0 NA
11-119027305-T-G p.Phe281Cys missense ABCG4 1 83306 1.20039E-5 41653 0 NA
11-119027308-A-G p.Lys282Arg missense ABCG4 2 83310 2.40067E-5 41655 0 NA
11-119027309-A-G p.Lys282Lys synonymous ABCG4 39 83304 4.68165E-4 41652 0 0.00105176
11-119027312-C-T p.Gly283Gly synonymous ABCG4 1 83304 1.20042E-5 41652 0 3.18532E-5
11-119027313-G-A p.Val284Met missense ABCG4 1 83300 1.20048E-5 41650 0 5.03525E-4
11-119027323-A-G p.Asn287Ser missense ABCG4 2 83292 2.40119E-5 41646 0 7.95248E-6
11-119027342-G-A p.Lys293Lys synonymous ABCG4 3 83258 3.60326E-5 41629 0 2.38576E-5
11-119027348-C-T c.-82C>T 5_prime_UTR_premature_start_codon_gain ABCG4 5 83228 6.00759E-5 41614 0 5.03525E-4
11-119027349-G-A p.Gly296Ser missense ABCG4 1 83222 1.20161E-5 41611 0 8.23723E-6
11-119027360-C-T p.Cys299Cys synonymous ABCG4 2 83160 2.405E-5 41580 0 8.23778E-6
11-119027575-T-A c.926-7T>A splice_region ABCG4 23 83128 2.76682E-4 41564 0 6.25E-4
11-119027586-C-T c.-37C>T 5_prime_UTR_premature_start_codon_gain ABCG4 4 83164 4.80977E-5 41582 0 1.27095E-4
11-119027586-C-A p.Ile310Ile synonymous ABCG4 1 83164 1.20244E-5 41582 0 NA
11-119027593-G-C p.Ala313Pro missense ABCG4 1 83126 1.20299E-5 41563 0 NA
11-119027604-G-C p.Glu316Asp missense ABCG4 1 83130 1.20294E-5 41565 0 NA
11-119027611-G-C p.Asp319His missense ABCG4 1 83120 1.20308E-5 41560 0 3.99527E-6
11-119027618-A-G p.Asn321Ser missense ABCG4 26 83120 3.12801E-4 41560 0 2.35405E-4
11-119027631-C-T p.Phe325Phe synonymous ABCG4 395 83122 0.00475205 41561 2 0.0107982
11-119027649-G-C p.Gly331Gly synonymous ABCG4 1 83094 1.20346E-5 41547 0 1.65462E-5
11-119027655-C-T p.Cys333Cys synonymous ABCG4 1 83088 1.20354E-5 41544 0 3.18532E-5
11-119027656-G-A p.Ala334Thr missense ABCG4 2 83086 2.40714E-5 41543 0 5.03525E-4
11-119027658-T-C p.Ala334Ala synonymous ABCG4 118 83078 0.00142035 41539 3 0.00238945
11-119027691-C-G p.Asn345Lys missense ABCG4 2637 82690 0.0318902 41345 245 0.0685299
11-119027691-C-T p.Asn345Asn synonymous ABCG4 629 82824 0.00759442 41412 14 0.0131126
11-119027695-G-A p.Val347Ile missense ABCG4 1 82810 1.20758E-5 41405 0 3.18695E-5
11-119027699-C-G p.Pro348Arg missense ABCG4 15 82762 1.81243E-4 41381 1 0.0020141
11-119027710-C-T p.Pro352Ser missense ABCG4 1 82570 1.21109E-5 41285 0 NA
11-119027711-C-T p.Pro352Leu missense ABCG4 969 82496 0.011746 41248 26 0.0216516
11-119027724-G-A p.Pro356Pro splice_region+synonymous ABCG4 39 82184 4.74545E-4 41092 0 8.92174E-4
11-119027727-G-A c.1068+3G>A splice_region ABCG4 6 82068 7.31101E-5 41034 0 1.68957E-4
11-119028953-C-T p.Pro360Ser missense ABCG4 1 83080 1.20366E-5 41540 0 2.07269E-5
11-119028969-C-G p.Thr365Ser missense ABCG4 1 83202 1.20189E-5 41601 0 NA
11-119028970-C-T p.Thr365Thr synonymous ABCG4 2 83210 2.40356E-5 41605 0 4.03219E-6
11-119028990-C-T p.Thr372Ile missense ABCG4 1 83274 1.20085E-5 41637 0 NA
11-119028994-GT-G p.Phe374fs frameshift ABCG4 2 83268 2.40188E-5 41634 0 NA
11-119029041-C-T p.Thr389Met missense+splice_region ABCG4 5 83114 6.01583E-5 41557 0 1.59256E-4
11-119029048-G-C p.Arg69Ser missense ABCG4 1 83046 1.20415E-5 41523 0 NA
11-119029050-G-A p.Arg70His missense ABCG4 2 83032 2.40871E-5 41516 0 4.12038E-5
11-119029058-G-A p.Gly73Arg missense ABCG4 915 82970 0.0110281 41485 4 0.00864527
11-119029058-G-T p.Gly73Trp missense ABCG4 10 82992 1.20494E-4 41496 0 0.00250941
11-119029063-A-G p.Gly74Gly synonymous ABCG4 2 82928 2.41173E-5 41464 0 NA
11-119029066-G-A p.Glu75Glu synonymous ABCG4 9 82884 1.08585E-4 41442 0 1.59256E-4
11-119029080-G-T p.Gly80Val missense ABCG4 1 82576 1.21101E-5 41288 0 NA
11-119029094-G-T p.Ala85Ser missense ABCG4 1 82304 1.21501E-5 41152 0 8.24769E-6
11-119029104-C-T p.Ser88Phe missense ABCG4 2 82102 2.43599E-5 41051 0 3.19634E-5
11-119029109-C-A p.Gln90Lys missense ABCG4 2 82016 2.43855E-5 41008 0 NA
11-119029117-A-C p.Lys92Asn missense ABCG4 23 82024 2.80406E-4 41012 0 3.82434E-4
11-119029117-A-T p.Lys92Asn missense ABCG4 1 82024 1.21916E-5 41012 0 1.19982E-5
11-119029118-T-C p.Trp93Arg missense ABCG4 3 82030 3.6572E-5 41015 0 6.37755E-5
11-119029124-T-TGG p.Pro97fs frameshift ABCG4 2 81900 2.442E-5 40950 0 3.20192E-5
11-119029135-C-T p.Ser98Ser synonymous ABCG4 3 81782 3.66829E-5 40891 0 4.13059E-5
11-119029138-C-T p.Leu99Leu synonymous ABCG4 1 81844 1.22184E-5 40922 0 4.00352E-6
11-119029143-C-T p.Ala101Val missense ABCG4 314 81856 0.003836 40928 2 0.0086086
11-119029150-A-G p.Gln103Gln synonymous ABCG4 13 82032 1.58475E-4 41016 0 5.74053E-4
11-119029157-T-C p.Cys106Arg missense ABCG4 4 82126 4.87056E-5 41063 0 1.6518E-5
11-119029161-G-A p.Gly107Glu missense ABCG4 2 82126 2.43528E-5 41063 0 NA
11-119029179-G-A p.Arg113Lys missense ABCG4 8 82444 9.70356E-5 41222 0 3.82653E-4
11-119029187-C-T p.Pro116Ser missense ABCG4 1 82616 1.21042E-5 41308 0 8.25219E-6
11-119029188-C-T p.Pro116Leu missense ABCG4 1 82654 1.20986E-5 41327 0 3.30131E-5
11-119029189-G-A p.Pro116Pro synonymous ABCG4 208 82650 0.00251664 41325 1 0.00609406
11-119029192-T-C p.Ser117Ser synonymous ABCG4 2 82728 2.41756E-5 41364 0 NA
11-119029197-A-C p.Tyr119Ser missense ABCG4 1 82858 1.20688E-5 41429 0 8.25014E-6
11-119029261-C-T c.1168-6C>T splice_region ABCG4 1 83316 1.20025E-5 41658 0 NA
11-119029262-C-T c.1168-5C>T splice_region ABCG4 3 83312 3.60092E-5 41656 0 1.59094E-5
11-119029278-C-T p.His393His synonymous ABCG4 1 83330 1.20005E-5 41665 0 8.23723E-6
11-119029281-A-G p.Leu394Leu synonymous ABCG4 3 83334 3.59997E-5 41667 0 3.57884E-5
11-119029283-G-A p.Arg395Gln missense ABCG4 17 83336 2.03993E-4 41668 0 5.03525E-4
11-119029285-T-C p.Phe396Leu missense ABCG4 2 83336 2.39992E-5 41668 0 NA
11-119029288-A-G p.Met397Val missense ABCG4 1 83340 1.1999E-5 41670 0 NA
11-119029297-G-A p.Val400Met missense ABCG4 4 83354 4.79881E-5 41677 0 3.57881E-5
11-119029301-T-C p.Val401Ala missense ABCG4 1 83358 1.19964E-5 41679 0 2.78343E-5
11-119029304-T-C p.Ile402Thr missense ABCG4 3 83362 3.59876E-5 41681 0 1.98813E-5
11-119029308-C-T p.Gly403Gly synonymous ABCG4 1 83354 1.1997E-5 41677 0 3.29462E-5
11-119029309-G-A p.Val404Met missense ABCG4 12 83356 1.43961E-4 41678 0 1.9129E-4
11-119029314-C-T p.Leu405Leu synonymous ABCG4 3 83352 3.59919E-5 41676 0 NA
11-119029317-C-T p.Ile406Ile synonymous ABCG4 1 83354 1.1997E-5 41677 0 3.18654E-5
11-119029329-C-T p.Tyr410Tyr synonymous ABCG4 1 83362 1.19959E-5 41681 0 6.25E-4
11-119029330-C-T p.Leu411Leu synonymous ABCG4 1 83360 1.19962E-5 41680 0 NA
11-119029341-C-T p.Gly414Gly synonymous ABCG4 2 83354 2.3994E-5 41677 0 3.18674E-5
11-119029342-G-A p.Asp415Asn missense ABCG4 5 83356 5.99837E-5 41678 0 6.58924E-5
11-119029344-C-T p.Asp415Asp synonymous ABCG4 6 83358 7.19787E-5 41679 0 4.11828E-5
11-119029364-A-G p.Asn422Ser missense ABCG4 2 83350 2.39952E-5 41675 0 2.47097E-5
11-119029372-G-A p.Gly425Ser missense ABCG4 2 83330 2.4001E-5 41665 0 3.18228E-5
11-119029372-G-T p.Gly425Cys missense ABCG4 1 83330 1.20005E-5 41665 0 1.19336E-5
11-119029383-C-T p.Phe428Phe synonymous ABCG4 2 83318 2.40044E-5 41659 0 8.23642E-6
11-119029407-C-T p.Phe436Phe synonymous ABCG4 1 83258 1.20109E-5 41629 0 3.29506E-5
11-119029410-C-T p.Ala437Ala synonymous ABCG4 1 83242 1.20132E-5 41621 0 6.37064E-5
11-119029541-C-A p.Pro447Thr missense+splice_region ABCG4 1 83068 1.20383E-5 41534 0 NA
11-119029541-C-G p.Pro447Ala missense+splice_region ABCG4 1 83068 1.20383E-5 41534 0 NA
11-119029554-C-T p.Ala451Val missense ABCG4 2 83066 2.40772E-5 41533 0 1.64739E-5
11-119029555-G-A p.Ala451Ala synonymous ABCG4 5 83082 6.01815E-5 41541 0 5.76578E-5
11-119029562-A-T p.Met454Leu missense ABCG4 2 83088 2.40709E-5 41544 0 3.18715E-5
11-119029563-T-C p.Met454Thr missense ABCG4 1 83092 1.20349E-5 41546 0 NA
11-119029581-A-G p.Tyr460Cys missense ABCG4 1 83094 1.20346E-5 41547 0 NA
11-119029588-C-T p.Tyr462Tyr synonymous ABCG4 4 83092 4.81394E-5 41546 0 9.06111E-5
11-119029600-G-A p.Ala466Ala synonymous ABCG4 7 82996 8.43414E-5 41498 0 4.11882E-5
11-119029605-AC-CA p.Tyr468Ser missense ABCG4 1 82970 1.20525E-5 41485 0 NA
11-119029619-A-G p.Met473Val missense ABCG4 2 82802 2.4154E-5 41401 0 NA
11-119029627-C-T p.Asp475Asp synonymous ABCG4 5 82556 6.0565E-5 41278 0 8.24049E-5
11-119029628-G-A p.Val476Met missense ABCG4 1 82490 1.21227E-5 41245 0 4.12031E-5
11-119029630-G-A p.Val476Val synonymous ABCG4 6 82440 7.27802E-5 41220 0 6.25E-4
11-119030933-C-T c.1438-4C>T splice_region ABCG4 2 82758 2.41668E-5 41379 0 NA
11-119030936-G-A c.1438-1G>A splice_acceptor ABCG4 1 82796 1.20779E-5 41398 0 NA
11-119030948-G-A p.Pro483Pro synonymous ABCG4 2 82910 2.41225E-5 41455 0 3.32215E-5
11-119030952-G-A p.Val485Ile missense ABCG4 2 82984 2.4101E-5 41492 0 NA
11-119030957-C-T p.Tyr486Tyr synonymous ABCG4 1 83072 1.20378E-5 41536 0 NA
11-119030960-C-T p.Cys487Cys synonymous ABCG4 1 83082 1.20363E-5 41541 0 NA
11-119030980-C-T p.Thr494Met missense ABCG4 4 83124 4.81209E-5 41562 0 4.9622E-5
11-119030981-G-A p.Thr494Thr synonymous ABCG4 2 83128 2.40593E-5 41564 0 9.25276E-4
11-119030989-C-T p.Pro497Leu missense ABCG4 1 83118 1.20311E-5 41559 0 3.98115E-6
11-119030990-C-T p.Pro497Pro synonymous ABCG4 3 83112 3.60959E-5 41556 0 3.58303E-5
11-119031026-G-A p.Leu509Leu synonymous ABCG4 1 83100 1.20337E-5 41550 0 8.2713E-6
11-119031027-G-A p.Ala510Thr missense ABCG4 1 83092 1.20349E-5 41546 0 NA
11-119031031-C-T p.Thr511Ile missense ABCG4 2 83090 2.40703E-5 41545 0 1.59388E-4
11-119031032-C-T p.Thr511Thr synonymous ABCG4 2 83090 2.40703E-5 41545 0 2.78729E-5
11-119031033-G-A p.Ala512Thr missense ABCG4 3 83082 3.61089E-5 41541 0 1.19449E-5
11-119031035-C-T p.Ala512Ala synonymous ABCG4 1 83094 1.20346E-5 41547 0 3.18715E-5
11-119031039-G-T p.Ala514Ser missense ABCG4 1 83078 1.20369E-5 41539 0 NA
11-119031071-C-T p.Ile524Ile synonymous ABCG4 7 83034 8.43028E-5 41517 0 6.37836E-5
11-119031071-C-A p.Ile524Ile synonymous ABCG4 1 83034 1.20433E-5 41517 0 1.59413E-5
11-119031072-G-A p.Gly525Arg missense ABCG4 4 83018 4.81823E-5 41509 0 2.48781E-5
11-119031074-A-G p.Gly525Gly synonymous ABCG4 4 83018 4.81823E-5 41509 0 3.31862E-5
11-119031076-C-T p.Ala526Val missense ABCG4 1 82990 1.20496E-5 41495 0 3.9881E-6
11-119031082-C-G p.Ser528Cys missense ABCG4 2 82986 2.41005E-5 41493 0 NA
11-119031085-A-T p.Asn529Ile missense ABCG4 1 82954 1.20549E-5 41477 0 NA
11-119031092-A-G p.Leu531Leu synonymous ABCG4 2 82938 2.41144E-5 41469 0 7.99175E-6
11-119031096-G-A c.1596+1G>A splice_donor ABCG4 1 82924 1.20592E-5 41462 0 3.99898E-6
11-119031242-C-T c.1597-6C>T splice_region ABCG4 3 83254 3.60343E-5 41627 0 4.01742E-6
11-119031275-G-A p.Ala542Thr missense ABCG4 2 83254 2.40229E-5 41627 0 0.00125
11-119031280-C-T p.Ile543Ile synonymous ABCG4 4 83268 4.80377E-5 41634 0 9.57732E-5
11-119031292-G-A p.Leu547Leu synonymous ABCG4 1 83296 1.20054E-5 41648 0 NA
11-119031298-C-T p.Ser549Ser synonymous ABCG4 4 83284 4.80284E-5 41642 0 6.25E-4
11-119031299-G-A p.Gly550Ser missense ABCG4 4 83284 4.80284E-5 41642 0 1.19568E-5
11-119031617-C-T p.Thr581Met missense ABCG4 2 83164 2.40489E-5 41582 0 3.98143E-6
11-119031624-T-C p.Tyr583Tyr synonymous ABCG4 1 83198 1.20195E-5 41599 0 3.97972E-6
11-119031633-G-A p.Glu586Glu synonymous ABCG4 1 83198 1.20195E-5 41599 0 8.29325E-6
11-119031634-C-T p.Arg587* stop_gained ABCG4 1 83196 1.20198E-5 41598 0 3.97972E-6
11-119031669-G-A p.Pro598Pro synonymous ABCG4 670 83138 0.00805889 41569 6 0.00852178
11-119031673-C-T p.Arg600Trp missense ABCG4 1 83124 1.20302E-5 41562 0 1.19353E-5
11-119031674-G-A p.Arg600Gln missense ABCG4 1 83128 1.20296E-5 41564 0 6.60491E-5
11-119031693-C-T p.Leu606Leu synonymous ABCG4 2 83060 2.4079E-5 41530 0 NA
11-119031695-G-A p.Arg607Gln missense ABCG4 1 83028 1.20441E-5 41514 0 1.19331E-5
11-119031698-C-T p.Ala608Val missense ABCG4 1 82988 1.20499E-5 41494 0 6.25E-4
11-119031699-G-A p.Ala608Ala synonymous ABCG4 1 82956 1.20546E-5 41478 0 4.94829E-5
11-119031717-C-T p.Ala614Ala synonymous ABCG4 1 82710 1.20904E-5 41355 0 NA
11-119031725-A-T p.Tyr617Phe missense ABCG4 1 82500 1.21212E-5 41250 0 NA
11-119031727-A-G p.Met618Val missense ABCG4 2 82446 2.42583E-5 41223 0 NA
11-119031728-T-C p.Met618Thr missense ABCG4 1 82396 1.21365E-5 41198 0 3.18939E-5
11-119031732-C-T p.Asp619Asp synonymous ABCG4 1 82274 1.21545E-5 41137 0 8.25014E-6
11-119031732-C-A p.Asp619Glu missense ABCG4 2 82274 2.4309E-5 41137 0 NA
11-119031753-C-A p.Phe626Leu missense ABCG4 2 81166 2.46409E-5 40583 0 NA
11-119031766-C-T p.Arg631Trp missense ABCG4 2 79600 2.51256E-5 39800 0 2.47905E-5
11-119031790-C-T p.Arg639Cys missense ABCG4 1 76632 1.30494E-5 38316 0 2.48213E-5
11-119031797-G-A p.Arg641Gln missense ABCG4 2 75472 2.64999E-5 37736 0 3.19632E-5