Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-95673833-A-G p.Leu1325Pro missense ABCC4 2 83024 2.40894E-5 41512 0 3.18512E-5
13-95673837-C-T p.Ala1324Thr missense ABCC4 3 83002 3.61437E-5 41501 0 6.61212E-5
13-95673848-A-G p.Ile1320Thr missense ABCC4 5 83044 6.0209E-5 41522 0 5.04541E-4
13-95673849-T-G p.Ile1320Leu missense ABCC4 2 83038 2.40854E-5 41519 0 3.99221E-6
13-95673856-G-C p.Thr1317Thr synonymous ABCC4 1 83036 1.2043E-5 41518 0 NA
13-95673857-G-A p.Thr1317Ile missense ABCC4 1 83024 1.20447E-5 41512 0 NA
13-95673860-G-A p.Ser1316Leu missense ABCC4 3 83020 3.61359E-5 41510 0 3.18776E-5
13-95673863-G-A p.Pro1315Leu missense ABCC4 3 83068 3.6115E-5 41534 0 5.19281E-5
13-95673866-T-C p.Gln1314Arg missense ABCC4 3 83044 3.61254E-5 41522 0 0.00151515
13-95673888-C-G p.Val1307Leu missense ABCC4 1 82982 1.20508E-5 41491 0 NA
13-95673889-C-G p.Met1306Ile missense ABCC4 10 82988 1.20499E-4 41494 1 0.00375
13-95673922-T-C p.Arg1295Arg synonymous ABCC4 1 82560 1.21124E-5 41280 0 NA
13-95673927-T-G p.Lys1294Gln missense ABCC4 1 82402 1.21356E-5 41201 0 NA
13-95673936-C-T p.Val1291Ile missense+splice_region ABCC4 8 81914 9.76634E-5 40957 0 NA
13-95673938-TA-T c.3871-3delT splice_region ABCC4 5 81610 6.1267E-5 40805 0 0.0220693
13-95673939-A-G c.3871-3T>C splice_region ABCC4 53120 56366 0.942412 28183 25124 0.975595
13-95673940-G-GA c.3871-5_3871-4insT splice_region ABCC4 17 80554 2.11039E-4 40277 0 0.0110274
13-95673940-G-A c.3871-4C>T splice_region ABCC4 1 81680 1.22429E-5 40840 0 5.78957E-5
13-95673941-A-G c.3871-5T>C splice_region ABCC4 7 81508 8.58811E-5 40754 0 0.0294769
13-95686853-G-A c.3870+6C>T splice_region ABCC4 4 83290 4.8025E-5 41645 0 3.61367E-5
13-95686877-G-A p.Leu1284Leu synonymous ABCC4 4 83332 4.80008E-5 41666 0 8.26774E-6
13-95686880-G-A p.Ala1283Ala synonymous ABCC4 4 83338 4.79973E-5 41669 0 6.36699E-5
13-95686885-C-T p.Ala1282Thr missense ABCC4 8 83330 9.60038E-5 41665 0 9.54927E-5
13-95686914-A-G p.Met1272Thr missense ABCC4 3 83346 3.59945E-5 41673 0 1.03404E-4
13-95686915-T-C p.Met1272Val missense ABCC4 1 83348 1.19979E-5 41674 0 NA
13-95686934-T-C p.Lys1265Lys synonymous ABCC4 2 83350 2.39952E-5 41675 0 2.14763E-4
13-95686946-C-G p.Leu1261Phe missense ABCC4 2 83336 2.39992E-5 41668 0 NA
13-95686951-C-G p.Val1260Leu missense ABCC4 1 83344 1.19985E-5 41672 0 NA
13-95686955-C-T p.Pro1258Pro synonymous ABCC4 415 83336 0.00497984 41668 5 0.0106017
13-95686957-G-T p.Pro1258Thr missense ABCC4 1 83328 1.20008E-5 41664 0 NA
13-95686961-A-G p.Asp1256Asp synonymous ABCC4 18 83320 2.16035E-4 41660 0 3.42065E-4
13-95686994-C-CATTATCTTGTCGCTGTCAATAATGGTGTTCAATCTG c.3736-2_3736-1insCAGATTGAACACCATTATTGACAGCGACAAGATAAT splice_acceptor ABCC4 2 83274 2.40171E-5 41637 1 NA
13-95695950-T-C p.Ser1241Gly missense ABCC4 1 82992 1.20494E-5 41496 0 NA
13-95695969-T-C p.Arg1234Arg synonymous ABCC4 1 83130 1.20294E-5 41565 0 NA
13-95695975-T-A p.Ala1232Ala synonymous ABCC4 5 83176 6.01135E-5 41588 0 2.47133E-5
13-95695989-C-T p.Val1228Met missense ABCC4 13 83182 1.56284E-4 41591 0 1.91877E-4
13-95695990-G-T p.Thr1227Thr synonymous ABCC4 1 83186 1.20213E-5 41593 0 3.19448E-5
13-95695990-G-A p.Thr1227Thr synonymous ABCC4 1 83186 1.20213E-5 41593 0 3.19448E-5
13-95696010-C-G p.Glu1221Gln missense ABCC4 2 83072 2.40755E-5 41536 0 NA
13-95696012-C-T p.Arg1220Gln missense ABCC4 1 83040 1.20424E-5 41520 0 6.25E-4
13-95696013-G-A p.Arg1220Trp missense ABCC4 14 83026 1.68622E-4 41513 0 9.06499E-5
13-95696015-A-AT p.Ile1219fs frameshift ABCC4 1 83008 1.2047E-5 41504 0 6.46663E-5
13-95696032-C-T p.Glu1213Glu synonymous ABCC4 1 82844 1.20709E-5 41422 0 3.21378E-5
13-95696033-T-TA p.Glu1213fs frameshift ABCC4 1 82830 1.20729E-5 41415 0 NA
13-95696036-T-A p.Asp1212Val missense ABCC4 1 82776 1.20808E-5 41388 0 8.2545E-6
13-95696537-C-T p.Thr1204Thr synonymous ABCC4 2 83136 2.4057E-5 41568 0 2.41175E-5
13-95696540-C-T p.Ala1203Ala synonymous ABCC4 1665 83122 0.0200308 41561 94 0.04423
13-95696541-G-A p.Ala1203Val missense ABCC4 4 83156 4.81024E-5 41578 0 4.01471E-5
13-95696554-T-C p.Ile1199Val missense ABCC4 1 83198 1.20195E-5 41599 0 9.55231E-5
13-95696581-C-T p.Ala1190Thr missense ABCC4 1 83226 1.20155E-5 41613 0 NA
13-95696588-A-G p.Leu1187Leu synonymous ABCC4 2 83234 2.40286E-5 41617 0 NA
13-95696599-G-A p.Leu1184Leu synonymous ABCC4 34 83238 4.08467E-4 41619 0 1.1561E-4
13-95696647-T-C p.Thr1168Ala missense ABCC4 1 83210 1.20178E-5 41605 0 NA
13-95696662-G-A p.Pro1163Ser missense ABCC4 2 83138 2.40564E-5 41569 0 3.18471E-5
13-95696672-A-C p.Ile1159Met missense ABCC4 1 83078 1.20369E-5 41539 0 1.60739E-5
13-95696686-G-C p.Leu1155Val missense ABCC4 24 82940 2.89366E-4 41470 0 6.87891E-5
13-95696687-T-C p.Gln1154Gln synonymous ABCC4 4 82936 4.823E-5 41468 0 9.55475E-5
13-95696693-C-CTCT c.3457-2_3457-1insAGA splice_acceptor ABCC4 1 82786 1.20793E-5 41393 0 NA
13-95705373-C-T p.Glu1144Glu synonymous ABCC4 1 83288 1.20065E-5 41644 0 NA
13-95705378-C-A p.Asp1143Tyr missense ABCC4 1 83294 1.20057E-5 41647 0 NA
13-95705379-C-T p.Thr1142Thr synonymous ABCC4 1 83298 1.20051E-5 41649 0 6.37024E-5
13-95705380-G-A p.Thr1142Met missense ABCC4 381 83282 0.00457482 41641 3 0.00687942
13-95705380-G-C p.Thr1142Arg missense ABCC4 1 83294 1.20057E-5 41647 0 NA
13-95705409-C-T p.Arg1132Arg synonymous ABCC4 1 83292 1.2006E-5 41646 0 8.23818E-6
13-95705413-A-G p.Met1131Thr missense ABCC4 2 83290 2.40125E-5 41645 0 NA
13-95705414-T-C p.Met1131Val missense ABCC4 1 83286 1.20068E-5 41643 0 2.38643E-5
13-95705419-C-G p.Gly1129Ala missense ABCC4 1 83278 1.2008E-5 41639 0 NA
13-95705438-C-T p.Glu1123Lys missense+splice_region ABCC4 4 83246 4.80504E-5 41623 0 3.9782E-6
13-95705439-C-T c.3367-1G>A splice_acceptor ABCC4 1 83246 1.20126E-5 41623 0 NA
13-95705440-T-TGAGGTATGATTGACATTTTCTTCCTTAAATCGTG c.3367-3_3367-2insCACGATTTAAGGAAGAAAATGTCAATCATACCTC splice_region ABCC4 2 83242 2.40263E-5 41621 1 NA
13-95714976-C-T p.Lys1116Lys synonymous ABCC4 62013 79378 0.781237 39689 24258 0.815625
13-95714985-T-C p.Leu1113Leu synonymous ABCC4 1 82888 1.20645E-5 41444 0 NA
13-95714990-C-T p.Asp1112Asn missense ABCC4 4 82900 4.82509E-5 41450 0 8.23778E-6
13-95714991-G-A p.His1111His synonymous ABCC4 1 82902 1.20624E-5 41451 0 7.41388E-5
13-95714994-A-G p.Leu1110Leu synonymous ABCC4 29 82934 3.49676E-4 41467 0 6.25E-4
13-95715014-A-G p.Leu1104Leu synonymous ABCC4 989 83080 0.0119042 41540 37 0.0248263
13-95715023-C-T p.Asp1101Asn missense ABCC4 2 83160 2.405E-5 41580 0 NA
13-95715024-A-G p.Ile1100Ile synonymous ABCC4 1 83168 1.20239E-5 41584 0 2.47162E-5
13-95715031-A-C p.Ile1098Ser missense ABCC4 1 83226 1.20155E-5 41613 0 NA
13-95715041-C-T p.Glu1095Lys missense ABCC4 5 83294 6.00283E-5 41647 0 4.37585E-5
13-95715053-A-G p.Leu1091Leu synonymous ABCC4 2 83322 2.40033E-5 41661 0 3.1904E-5
13-95715069-G-T p.Ile1085Ile synonymous ABCC4 73 83324 8.76098E-4 41662 0 0.00251762
13-95715071-T-G p.Ile1085Leu missense ABCC4 1 83330 1.20005E-5 41665 0 3.98648E-6
13-95715085-C-G p.Gly1080Ala missense ABCC4 1 83296 1.20054E-5 41648 0 NA
13-95715090-T-C p.Gly1078Gly synonymous ABCC4 1 83280 1.20077E-5 41640 0 8.26064E-6
13-95715092-C-T p.Gly1078Arg missense ABCC4 1 83280 1.20077E-5 41640 0 3.21151E-5
13-95715093-G-A p.Thr1077Thr synonymous ABCC4 14 83268 1.68132E-4 41634 0 6.43252E-5
13-95715093-G-C p.Thr1077Thr synonymous ABCC4 1 83268 1.20094E-5 41634 0 NA
13-95715107-T-C p.Ile1073Val missense ABCC4 3 83192 3.60612E-5 41596 0 1.61372E-5
13-95715113-C-T p.Val1071Ile missense+splice_region ABCC4 48 83160 5.77201E-4 41580 0 0.0018303
13-95715119-G-A c.3211-6C>T splice_region ABCC4 2 83064 2.40778E-5 41532 0 1.27197E-4
13-95723922-T-C p.Gln1068Gln synonymous ABCC4 1 79534 1.25732E-5 39767 0 NA
13-95723929-T-G p.Lys1066Thr missense ABCC4 1 79974 1.25041E-5 39987 0 1.24514E-5
13-95723934-G-A p.Leu1064Leu synonymous ABCC4 6 80300 7.47198E-5 40150 0 6.27533E-5
13-95723952-C-T p.Leu1058Leu synonymous ABCC4 1 81824 1.22214E-5 40912 0 5.10444E-6
13-95723955-T-C p.Val1057Val synonymous ABCC4 1 81966 1.22002E-5 40983 0 NA
13-95723985-G-A n.696C>T splice_region ABCC4 1 82870 1.20671E-5 41435 0 NA
13-95723991-A-G p.Asn1045Asn synonymous ABCC4 1 82906 1.20619E-5 41453 0 6.36983E-5
13-95723996-CA-C p.Phe1043fs frameshift ABCC4 1 83000 1.20482E-5 41500 0 NA
13-95723997-A-G p.Phe1043Phe synonymous ABCC4 2 83004 2.40952E-5 41502 0 NA
13-95724008-C-T p.Val1040Met missense ABCC4 7 83026 8.43109E-5 41513 0 3.18471E-4
13-95724031-G-C p.Pro1032Arg missense ABCC4 9 83046 1.08374E-4 41523 0 0.00125078
13-95724037-C-T p.Arg1030His missense ABCC4 2 83022 2.409E-5 41511 1 8.38926E-6
13-95724038-G-A p.Arg1030Cys missense ABCC4 7 83010 8.43272E-5 41505 0 9.5584E-5
13-95724060-T-C p.Glu1022Glu synonymous ABCC4 5 82926 6.02947E-5 41463 0 NA
13-95724061-TC-T p.Glu1022fs frameshift ABCC4 1 82930 1.20584E-5 41465 0 NA
13-95724096-T-C p.Val1010Val synonymous ABCC4 4 82414 4.85354E-5 41207 0 4.40443E-5
13-95725452-T-C c.3018+6A>G splice_region ABCC4 5 83074 6.01873E-5 41537 0 1.19607E-5
13-95725455-T-C c.3018+3A>G splice_region ABCC4 1 83072 1.20378E-5 41536 0 NA
13-95725484-G-A p.Arg998* stop_gained ABCC4 1 83084 1.2036E-5 41542 0 2.48299E-5
13-95725512-C-T p.Thr988Thr synonymous ABCC4 1 83014 1.20462E-5 41507 0 3.18651E-5
13-95725513-G-A p.Thr988Met missense ABCC4 3 83016 3.61376E-5 41508 0 1.59256E-4
13-95725521-A-G p.Tyr985Tyr synonymous ABCC4 9 82994 1.08442E-4 41497 0 3.82044E-4
13-95725547-C-T p.Gly977Arg missense ABCC4 3 82864 3.62039E-5 41432 0 NA
13-95725562-C-T c.2918-4G>A splice_region ABCC4 1 82722 1.20887E-5 41361 0 7.22016E-5
13-95725563-G-A c.2918-5C>T splice_region ABCC4 1 82692 1.20931E-5 41346 0 4.58867E-5
13-95725564-T-C c.2918-6A>G splice_region ABCC4 1 82684 1.20942E-5 41342 0 1.27372E-4
13-95726460-G-A c.2917+8C>T splice_region ABCC4 1 82480 1.21242E-5 41240 0 4.43591E-5
13-95726498-C-T p.Val963Ile missense ABCC4 1 82826 1.20735E-5 41413 0 2.54933E-5
13-95726499-G-A p.Ile962Ile synonymous ABCC4 3 82850 3.621E-5 41425 0 1.19652E-5
13-95726533-C-T p.Arg951His missense ABCC4 3 82958 3.61629E-5 41479 0 1.19712E-5
13-95726534-G-A p.Arg951Cys missense ABCC4 3 82964 3.61603E-5 41482 0 NA
13-95726536-A-G p.Val950Ala missense ABCC4 1 82958 1.20543E-5 41479 0 NA
13-95726537-C-T p.Val950Ile missense ABCC4 8 82966 9.6425E-5 41483 1 3.5921E-5
13-95726538-G-A p.Ala949Ala synonymous ABCC4 124 82954 0.0014948 41477 1 0.00352467
13-95726540-C-T p.Ala949Thr missense ABCC4 1 82950 1.20555E-5 41475 0 NA
13-95726541-A-G p.Phe948Phe synonymous ABCC4 78174 82790 0.944244 41395 36954 0.944612
13-95726549-G-A p.Arg946Cys missense ABCC4 1 82980 1.20511E-5 41490 0 8.68251E-6
13-95726553-C-T p.Thr944Thr synonymous ABCC4 1 82974 1.2052E-5 41487 0 2.62114E-5
13-95726559-C-T p.Leu942Leu synonymous ABCC4 26 82968 3.13374E-4 41484 1 0.0025
13-95726576-C-T p.Ala937Thr missense+splice_region ABCC4 4 82872 4.82672E-5 41436 0 1.87811E-5
13-95726584-T-TG c.2807-7_2807-6insC splice_region ABCC4 1 82770 1.20817E-5 41385 0 NA
13-95726586-T-G c.2807-8A>C splice_region ABCC4 2 82748 2.41698E-5 41374 0 1.2242E-5
13-95727682-A-T c.2806+4T>A splice_region ABCC4 2 83056 2.40801E-5 41528 0 NA
13-95727686-C-G p.Glu936Gln missense+splice_region ABCC4 23 83086 2.76822E-4 41543 0 2.96814E-4
13-95727698-C-T p.Asp932Asn missense ABCC4 1 83066 1.20386E-5 41533 0 8.24076E-6
13-95727748-C-T p.Arg915Gln missense ABCC4 2 83006 2.40946E-5 41503 0 3.18492E-5
13-95727754-G-T p.Thr913Asn missense ABCC4 2 83006 2.40946E-5 41503 0 NA
13-95727760-A-G p.Leu911Pro missense ABCC4 2 82984 2.4101E-5 41492 0 NA
13-95727762-C-T p.Gly910Gly synonymous ABCC4 8 82990 9.63972E-5 41495 0 3.18735E-5
13-95727766-T-C p.Gln909Arg missense ABCC4 3 83002 3.61437E-5 41501 0 4.11923E-5
13-95727777-T-C p.Ser905Ser synonymous ABCC4 1 82944 1.20563E-5 41472 0 4.11909E-5
13-95727780-T-C p.Leu904Leu synonymous ABCC4 76603 81888 0.935461 40944 35899 0.9375
13-95727788-A-G p.Ser902Pro missense ABCC4 1 82944 1.20563E-5 41472 0 NA
13-95727792-C-G p.Val900Val synonymous ABCC4 7 82932 8.44065E-5 41466 0 1.27405E-4
13-95727794-C-A p.Val900Leu missense ABCC4 113 82928 0.00136263 41464 1 0.0014627
13-95727802-C-T p.Arg897Gln missense ABCC4 1 82868 1.20674E-5 41434 0 9.07531E-5
13-95727808-G-A c.2687-3C>T splice_region ABCC4 3 82858 3.62065E-5 41429 0 7.18013E-5
13-95735396-G-A p.Thr895Ile missense+splice_region ABCC4 4 83108 4.81301E-5 41554 0 1.03563E-4
13-95735397-T-C p.Thr895Ala missense ABCC4 2 83106 2.40657E-5 41553 0 8.25682E-6
13-95735408-C-A p.Arg891Leu missense ABCC4 1 83098 1.2034E-5 41549 0 2.47553E-5
13-95735408-C-T p.Arg891His missense ABCC4 1 83098 1.2034E-5 41549 0 6.25E-4
13-95735409-G-A p.Arg891Cys missense ABCC4 3 83102 3.61002E-5 41551 0 1.59302E-5
13-95735424-A-G p.Ser886Pro missense ABCC4 2 83148 2.40535E-5 41574 0 NA
13-95735425-C-G p.Thr885Thr synonymous ABCC4 1 83150 1.20265E-5 41575 0 1.64894E-5
13-95735426-G-A p.Thr885Met missense ABCC4 1 83148 1.20267E-5 41574 0 3.98184E-6
13-95735428-T-C p.Glu884Glu synonymous ABCC4 3 83140 3.60837E-5 41570 0 1.64875E-5
13-95735429-T-C p.Glu884Gly missense ABCC4 1 83144 1.20273E-5 41572 0 NA
13-95735441-C-T p.Arg880Gln missense ABCC4 5 83146 6.01352E-5 41573 0 2.47317E-5
13-95735444-C-T p.Arg879Gln missense ABCC4 1 83138 1.20282E-5 41569 0 3.18593E-5
13-95735445-G-A p.Arg879Trp missense ABCC4 4 83144 4.81093E-5 41572 0 6.25E-4
13-95735450-A-G p.Phe877Ser missense ABCC4 9 83170 1.08212E-4 41585 0 3.82093E-4
13-95735476-C-G p.Leu868Phe missense ABCC4 1 83186 1.20213E-5 41593 0 NA
13-95735477-A-C p.Leu868Trp missense ABCC4 3 83186 3.60638E-5 41593 0 NA
13-95735478-A-AG p.Val869fs frameshift ABCC4 1 83182 1.20218E-5 41591 0 NA
13-95735484-T-C p.Ile866Val missense ABCC4 270 83146 0.0032473 41573 2 0.00464246
13-95735488-G-A p.Ile864Ile synonymous ABCC4 1 83168 1.20239E-5 41584 0 8.24769E-6
13-95735496-G-T p.Pro862Thr missense ABCC4 2 83180 2.40442E-5 41590 0 1.19444E-5
13-95735502-C-T p.Val860Met missense ABCC4 16 83148 1.92428E-4 41574 0 6.25E-4
13-95735504-G-A p.Ala859Val missense ABCC4 8 83150 9.62117E-5 41575 0 3.18715E-4
13-95735511-C-T p.Ala857Thr missense ABCC4 2 83150 2.40529E-5 41575 0 2.47484E-5
13-95735520-C-A p.Val854Phe missense ABCC4 596 83120 0.00717036 41560 3 0.019375
13-95735524-A-C p.Gly852Gly synonymous ABCC4 1 83108 1.20325E-5 41554 0 NA
13-95735530-C-T p.Val850Val synonymous ABCC4 1 83072 1.20378E-5 41536 0 6.37146E-5
13-95735537-A-G p.Leu848Pro missense ABCC4 1 83026 1.20444E-5 41513 0 NA
13-95735552-A-C c.2536-8T>G splice_region ABCC4 5 82908 6.03078E-5 41454 0 6.65801E-5
13-95748407-C-T p.Trp854* stop_gained ABCC4 1 14790 6.76133E-5 7395 0 NA
13-95748408-C-T p.Trp854* stop_gained ABCC4 2 14830 1.34862E-4 7415 0 0.00129601
13-95748422-G-A p.Leu849Leu synonymous ABCC4 1 15006 6.664E-5 7503 0 3.4153E-4
13-95748440-A-C c.2536-7T>G splice_region ABCC4 22 15388 0.00142969 7694 0 9.27644E-4
13-95768170-C-T c.2535+6G>A splice_region ABCC4 2 83188 2.40419E-5 41594 0 9.55597E-5
13-95768171-G-T c.2535+5C>A splice_region ABCC4 1 83172 1.20233E-5 41586 0 NA
13-95768179-G-A p.Ile844Ile synonymous ABCC4 13 83188 1.56273E-4 41594 0 2.48884E-4
13-95768194-C-T p.Thr839Thr synonymous ABCC4 2 83172 2.40466E-5 41586 0 2.39841E-5
13-95768200-C-T p.Pro837Pro synonymous ABCC4 26 83170 3.12613E-4 41585 0 3.1317E-4
13-95768211-C-A p.Asp834Tyr missense ABCC4 8 83186 9.617E-5 41593 0 3.29669E-5
13-95768218-G-C p.His831Gln missense ABCC4 1 83144 1.20273E-5 41572 0 NA
13-95768219-T-C p.His831Arg missense ABCC4 1 83148 1.20267E-5 41574 0 NA
13-95768231-T-C p.Lys827Arg missense ABCC4 89 83118 0.00107077 41559 1 0.00248392
13-95768240-C-T p.Arg824His missense ABCC4 2 83062 2.40784E-5 41531 0 1.27429E-4
13-95768242-A-AT p.Asn823fs frameshift ABCC4 49 83078 5.89807E-4 41539 0 3.18431E-4
13-95768252-C-A p.Arg820Ile missense ABCC4 6 83024 7.22683E-5 41512 0 3.1841E-5
13-95768259-C-T c.2456-4G>A splice_region ABCC4 1 82986 1.20502E-5 41493 0 1.65284E-5
13-95813470-C-T p.Val810Ile missense ABCC4 3 82862 3.62048E-5 41431 0 NA
13-95813471-C-T p.Pro809Pro synonymous ABCC4 10 82858 1.20688E-4 41429 0 2.54874E-4
13-95813479-TC-T p.Ala808fs frameshift ABCC4 3 82932 3.61742E-5 41466 0 4.04655E-6
13-95813506-G-A p.His798Tyr missense ABCC4 2 82972 2.41045E-5 41486 0 8.05172E-6
13-95813508-A-G p.Leu797Ser missense ABCC4 1 82986 1.20502E-5 41493 0 1.20681E-5
13-95813508-A-T p.Leu797* stop_gained ABCC4 1 82986 1.20502E-5 41493 0 NA
13-95813510-A-G p.Thr796Thr synonymous ABCC4 1 82998 1.20485E-5 41499 0 NA
13-95813530-G-A p.Leu790Phe missense ABCC4 2 82972 2.41045E-5 41486 0 0.00375
13-95813533-C-A p.Val789Phe missense ABCC4 1 82960 1.2054E-5 41480 0 8.30523E-6
13-95813534-G-A p.Tyr788Tyr synonymous ABCC4 2 82960 2.4108E-5 41480 0 9.55657E-5
13-95813535-T-C p.Tyr788Cys missense ABCC4 4 82956 4.82183E-5 41478 0 1.91164E-4
13-95813542-C-T p.Val786Ile missense ABCC4 1 82936 1.20575E-5 41468 0 8.28391E-6
13-95813545-A-G p.Leu785Leu synonymous ABCC4 2 82920 2.41196E-5 41460 0 NA
13-95813550-G-C p.Ser783Cys missense ABCC4 3 82864 3.62039E-5 41432 0 NA
13-95813557-C-G p.Ala781Pro missense ABCC4 2 82742 2.41715E-5 41371 0 1.2796E-5
13-95813560-T-C p.Ile780Val missense ABCC4 1 82670 1.20963E-5 41335 0 1.71236E-5
13-95813565-A-ATTTAT p.Phe778fs frameshift ABCC4 1 82634 1.21016E-5 41317 0 NA
13-95813572-C-T p.Val776Ile missense ABCC4 19 82578 2.30085E-4 41289 0 5.05561E-4
13-95813573-G-A p.Thr775Thr synonymous ABCC4 2 82572 2.42213E-5 41286 0 2.19552E-5
13-95813575-T-A p.Thr775Ser missense ABCC4 1 82544 1.21148E-5 41272 0 NA
13-95813579-TAC-T p.Val773fs frameshift ABCC4 1 82552 1.21136E-5 41276 0 8.6057E-6
13-95813582-A-T p.Thr772Thr synonymous ABCC4 1 82502 1.21209E-5 41251 0 NA
13-95813589-C-G p.Gly770Ala missense+splice_region ABCC4 1 82356 1.21424E-5 41178 0 NA
13-95815381-T-A p.Tyr768Phe missense ABCC4 2 82968 2.41057E-5 41484 0 8.23832E-6
13-95815396-C-T p.Trp763* stop_gained ABCC4 1 83046 1.20415E-5 41523 0 NA
13-95815408-A-G p.Leu759Pro missense ABCC4 1 83110 1.20322E-5 41555 0 NA
13-95815415-C-T p.Glu757Lys missense ABCC4 1056 83100 0.0127076 41550 15 0.0236758
13-95815439-C-A p.Val749Leu missense ABCC4 1 83102 1.20334E-5 41551 0 NA
13-95815440-A-G p.Thr748Thr synonymous ABCC4 1 83100 1.20337E-5 41550 0 3.1835E-5
13-95815453-A-G p.Met744Thr missense ABCC4 1 83060 1.20395E-5 41530 0 NA
13-95815454-T-C p.Met744Val missense ABCC4 457 83046 0.00550297 41523 4 0.0103477
13-95815459-T-C p.Gln742Arg missense ABCC4 1 83018 1.20456E-5 41509 0 NA
13-95815468-G-A p.Ala739Val missense+splice_region ABCC4 1 82906 1.20619E-5 41453 0 NA
13-95815474-T-C c.2214-4A>G splice_region ABCC4 4 82834 4.82893E-5 41417 0 8.14445E-5
13-95815856-T-C c.2213+8A>G splice_region ABCC4 1 83192 1.20204E-5 41596 0 1.60579E-5
13-95815861-T-C c.2213+3A>G splice_region ABCC4 3 83200 3.60577E-5 41600 0 NA
13-95815867-T-C p.Tyr737Cys missense ABCC4 1 83220 1.20163E-5 41610 0 1.81281E-5
13-95815890-C-T p.Val729Val synonymous ABCC4 1 83232 1.20146E-5 41616 0 NA
13-95816628-T-C c.2175+4A>G splice_region ABCC4 1 83134 1.20288E-5 41567 0 NA
13-95816633-T-C p.Gln725Arg missense+splice_region ABCC4 2 83168 2.40477E-5 41584 0 3.18573E-5
13-95816645-T-C p.Asn721Ser missense ABCC4 1 83210 1.20178E-5 41605 0 NA
13-95816652-G-A p.Leu719Phe missense ABCC4 3 83210 3.60534E-5 41605 0 3.18573E-5
13-95816656-A-G p.Leu717Leu synonymous ABCC4 2 83208 2.40361E-5 41604 0 1.19382E-5
13-95816660-A-T p.Phe716Tyr missense ABCC4 1 83226 1.20155E-5 41613 0 NA
13-95816673-T-C p.Ile712Val missense ABCC4 1 83218 1.20166E-5 41609 0 NA
13-95816696-T-C p.Tyr704Cys missense ABCC4 3 83182 3.60655E-5 41591 0 8.24375E-6
13-95816700-T-G p.Asn703His missense ABCC4 1 83180 1.20221E-5 41590 0 1.98992E-5
13-95816704-A-AT p.Tyr701fs frameshift ABCC4 1 83174 1.2023E-5 41587 0 NA
13-95816705-T-C p.Tyr701Cys missense ABCC4 1 83168 1.20239E-5 41584 0 3.18431E-5
13-95816706-A-C p.Tyr701Asp missense ABCC4 3 83180 3.60664E-5 41590 0 NA
13-95816707-G-A p.Ala700Ala synonymous ABCC4 660 83174 0.00793517 41587 6 0.01875
13-95816708-GC-G p.Ala700fs frameshift ABCC4 1 83188 1.2021E-5 41594 0 NA
13-95816735-C-T p.Arg691His missense ABCC4 7 83190 8.41447E-5 41595 0 3.18593E-5
13-95816743-C-A p.Glu688Asp missense ABCC4 2 83168 2.40477E-5 41584 0 3.98026E-6
13-95816751-G-A p.Leu686Leu synonymous ABCC4 1 83162 1.20247E-5 41581 0 1.19425E-4
13-95816752-T-C p.Thr685Thr synonymous ABCC4 3 83156 3.60768E-5 41578 0 NA
13-95816756-A-T p.Val684Asp missense ABCC4 3 83154 3.60776E-5 41577 0 NA
13-95816758-T-C p.Pro683Pro synonymous ABCC4 3 83148 3.60802E-5 41574 0 3.98064E-6
13-95816767-C-T p.Glu680Glu synonymous ABCC4 1 83148 1.20267E-5 41574 0 NA
13-95816771-G-GTATCTTGGC p.Ser676_Asp678dup conservative_inframe_insertion ABCC4 1 83132 1.20291E-5 41566 0 NA
13-95818411-C-A c.2034+1G>T splice_donor ABCC4 2 82894 2.41272E-5 41447 0 NA
13-95818433-A-G p.Asp671Asp synonymous ABCC4 2 83022 2.409E-5 41511 0 7.96115E-6
13-95818436-T-C p.Lys670Lys synonymous ABCC4 1 83042 1.20421E-5 41521 0 NA
13-95818445-G-A p.Pro667Pro synonymous ABCC4 55 83076 6.62044E-4 41538 0 0.00197528
13-95818457-T-C p.Gln663Gln synonymous ABCC4 3 83126 3.60898E-5 41563 0 1.19371E-5
13-95818460-T-C p.Gln662Gln synonymous ABCC4 25 83142 3.0069E-4 41571 0 0.00302115
13-95818466-C-G p.Trp660Cys missense ABCC4 2 83152 2.40523E-5 41576 0 3.97877E-6
13-95818472-C-T p.Ser658Ser synonymous ABCC4 1 83152 1.20262E-5 41576 0 1.19356E-5
13-95818496-C-T p.Arg650Arg synonymous ABCC4 1 83194 1.20201E-5 41597 0 7.95589E-6
13-95818520-T-C p.Pro642Pro synonymous ABCC4 1 83202 1.20189E-5 41601 0 5.76606E-5
13-95818524-G-A p.Pro641Leu missense ABCC4 1 83198 1.20195E-5 41599 0 0.0025
13-95818553-T-G p.Leu631Phe missense ABCC4 1 83158 1.20253E-5 41579 0 NA
13-95818559-G-A p.Ser629Ser synonymous ABCC4 1 83132 1.20291E-5 41566 0 NA
13-95818563-C-G p.Gly628Ala missense ABCC4 1 83108 1.20325E-5 41554 0 NA
13-95818571-T-C p.Ile625Met missense ABCC4 19 83074 2.28712E-4 41537 0 7.95925E-4
13-95818588-A-C p.Phe620Val missense ABCC4 2 82884 2.41301E-5 41442 0 NA
13-95818592-A-C p.Thr618Thr synonymous ABCC4 1 82820 1.20744E-5 41410 0 8.25164E-6
13-95818601-C-T p.Gly615Gly synonymous ABCC4 5 82624 6.05151E-5 41312 0 8.26665E-5
13-95818612-C-A p.Val612Leu missense ABCC4 5 82260 6.07829E-5 41130 0 2.50309E-5
13-95818628-T-C c.1825-7A>G splice_region ABCC4 278 81708 0.00340236 40854 1 0.00752071
13-95822794-A-G p.Leu606Leu synonymous ABCC4 2 82926 2.41179E-5 41463 0 2.67146E-5
13-95822800-G-C p.Leu604Val missense ABCC4 2 82934 2.41156E-5 41467 0 NA
13-95822803-T-C p.Ile603Val missense ABCC4 1 82942 1.20566E-5 41471 0 NA
13-95822812-C-T p.Ala600Thr missense ABCC4 1 82972 1.20523E-5 41486 0 8.57207E-6
13-95822826-T-G p.Gln595Pro missense ABCC4 1 82968 1.20528E-5 41484 0 5.93754E-5
13-95822837-A-G p.Thr591Thr synonymous ABCC4 1 82962 1.20537E-5 41481 0 NA
13-95822849-T-C p.Thr587Thr synonymous ABCC4 1 82952 1.20552E-5 41476 0 NA
13-95822861-A-G p.His583His synonymous ABCC4 2 82918 2.41202E-5 41459 0 3.47959E-5
13-95822863-G-A p.His583Tyr missense ABCC4 1 82884 1.20651E-5 41442 0 NA
13-95822863-G-T p.His583Asn missense ABCC4 1 82884 1.20651E-5 41442 0 3.18431E-5
13-95822866-A-G p.Leu582Leu synonymous ABCC4 1 82858 1.20688E-5 41429 0 NA
13-95822870-T-C p.Gln580Gln synonymous ABCC4 3 82842 3.62135E-5 41421 0 3.1839E-5
13-95822873-A-G p.Cys579Cys synonymous ABCC4 7 82794 8.45472E-5 41397 0 1.27356E-4
13-95822875-A-T p.Cys579Ser missense ABCC4 1 82768 1.2082E-5 41384 0 NA
13-95822875-A-C p.Cys579Gly missense ABCC4 1 82768 1.2082E-5 41384 0 1.17562E-4
13-95822878-T-C p.Ile578Val missense ABCC4 4 82728 4.83512E-5 41364 0 4.04285E-6
13-95822882-C-CAGTTCGAACAAGTGTCTGCTAACTTCCGCAT c.1728-1_1728insATGCGGAAGTTAGCAGACACTTGTTCGAACT splice_acceptor ABCC4 1 82656 1.20983E-5 41328 0 NA
13-95829965-C-G p.Glu575Gln missense ABCC4 1 83052 1.20406E-5 41526 0 NA
13-95829966-G-A p.Phe574Phe synonymous ABCC4 5 83056 6.02003E-5 41528 0 6.37064E-5
13-95829967-A-C p.Phe574Cys missense ABCC4 2 83052 2.40813E-5 41526 0 1.67398E-5
13-95829972-G-A p.His572His synonymous ABCC4 1 83090 1.20351E-5 41545 0 NA
13-95829988-G-A p.Ala567Val missense ABCC4 6 83138 7.21692E-5 41569 0 6.37146E-5
13-95829988-G-C p.Ala567Gly missense ABCC4 3 83138 3.60846E-5 41569 0 8.29229E-6
13-95829988-G-T p.Ala567Glu missense ABCC4 1 83138 1.20282E-5 41569 0 NA
13-95829998-C-T p.Ala564Thr missense ABCC4 1 83144 1.20273E-5 41572 0 8.28116E-6
13-95830005-A-T p.Pro561Pro synonymous ABCC4 2 83130 2.40587E-5 41565 0 3.1837E-5
13-95830011-G-A p.Asp559Asp synonymous ABCC4 2 83110 2.40645E-5 41555 0 2.48324E-5
13-95830021-T-C p.Tyr556Cys missense ABCC4 3 83076 3.61115E-5 41538 0 9.55475E-5
13-95830044-T-G p.Ala548Ala synonymous ABCC4 3 82954 3.61646E-5 41477 0 8.00987E-6
13-95830054-A-G c.1641-7T>C splice_region ABCC4 1 82892 1.20639E-5 41446 0 NA
13-95830247-T-C c.1640+4A>G splice_region ABCC4 1 83152 1.20262E-5 41576 0 NA
13-95830267-G-A p.Arg542Trp missense ABCC4 1 83226 1.20155E-5 41613 0 3.18471E-5
13-95830288-G-A p.Leu535Leu synonymous ABCC4 3 83300 3.60144E-5 41650 0 NA
13-95830290-G-A p.Thr534Met missense ABCC4 6 83298 7.20305E-5 41649 0 5.03525E-4
13-95830299-C-T p.Arg531Gln missense ABCC4 57 83298 6.8429E-4 41649 0 5.73285E-4
13-95830300-G-C p.Arg531Gly missense ABCC4 2 83294 2.40113E-5 41647 0 3.18512E-5
13-95830302-T-C p.Asp530Gly missense ABCC4 2 83286 2.40136E-5 41643 0 NA
13-95830313-A-G p.Thr526Thr synonymous ABCC4 2 83274 2.40171E-5 41637 0 5.03525E-4
13-95830321-C-T p.Asp524Asn missense ABCC4 1 83262 1.20103E-5 41631 0 NA
13-95830333-A-C p.Leu520Val missense ABCC4 1 83224 1.20158E-5 41612 0 8.24103E-6
13-95830340-T-C p.Leu517Leu synonymous ABCC4 3 83188 3.60629E-5 41594 0 8.24294E-6
13-95830347-T-TTTTTCA c.1546-3_1546-2insTGAAAA splice_region ABCC4 2 83134 2.40575E-5 41567 1 NA
13-95830353-G-A c.1546-8C>T splice_region ABCC4 1 83076 1.20372E-5 41538 0 8.24579E-6
13-95838950-C-A c.1545+5G>T splice_region ABCC4 1 83292 1.2006E-5 41646 0 NA
13-95838953-AC-A c.1545+1delG splice_donor ABCC4 1 83298 1.20051E-5 41649 0 NA
13-95838955-C-T p.Lys515Lys splice_region+synonymous ABCC4 9 83312 1.08028E-4 41656 0 9.55536E-5
13-95838955-C-CT p.Asp516fs frameshift ABCC4 1 83312 1.20031E-5 41656 0 NA
13-95838977-A-G p.Ile508Thr missense ABCC4 1 83378 1.19936E-5 41689 0 NA
13-95838978-T-C p.Ile508Val missense ABCC4 1 83378 1.19936E-5 41689 0 7.96147E-6
13-95838991-T-C p.Arg503Arg synonymous ABCC4 1 83392 1.19916E-5 41696 0 1.64967E-5
13-95838992-C-T p.Arg503Gln missense ABCC4 4 83390 4.79674E-5 41695 0 3.18634E-5
13-95838993-G-A p.Arg503* stop_gained ABCC4 2 83392 2.39831E-5 41696 0 NA
13-95839002-C-T p.Glu500Lys missense ABCC4 11 83398 1.31898E-4 41699 0 6.25782E-4
13-95839003-G-A p.Tyr499Tyr synonymous ABCC4 3073 83352 0.0368677 41676 299 0.0707451
13-95839008-T-C p.Lys498Glu missense ABCC4 138 83394 0.0016548 41697 0 0.00321615
13-95839040-C-T p.Gly487Glu missense ABCC4 3 83396 3.59729E-5 41698 0 1.64891E-4
13-95839042-C-T p.Ser486Ser synonymous ABCC4 145 83388 0.00173886 41694 0 0.00100705
13-95839052-C-T p.Trp483* stop_gained ABCC4 1 83396 1.1991E-5 41698 0 NA
13-95839058-T-A p.Gln481Leu missense ABCC4 1 83386 1.19924E-5 41693 0 NA
13-95839064-G-A p.Ser479Phe missense ABCC4 1 83382 1.1993E-5 41691 0 NA
13-95839070-T-C p.Tyr477Cys missense ABCC4 1 83378 1.19936E-5 41689 0 8.25341E-6
13-95839080-T-C p.Arg474Gly missense ABCC4 1 83370 1.19947E-5 41685 0 7.55882E-5
13-95839081-T-A p.Gly473Gly synonymous ABCC4 1 83368 1.1995E-5 41684 0 NA
13-95839082-C-T p.Gly473Glu missense ABCC4 1 83362 1.19959E-5 41681 0 NA
13-95839089-C-T p.Val471Met missense ABCC4 1 83356 1.19967E-5 41678 0 8.2802E-5
13-95839090-G-A p.Ser470Ser synonymous ABCC4 9 83356 1.07971E-4 41678 0 6.77075E-5
13-95839090-G-C p.Ser470Arg missense ABCC4 3 83356 3.59902E-5 41678 0 8.28185E-6
13-95839111-G-A p.Ala463Ala synonymous ABCC4 7 83312 8.40215E-5 41656 0 6.36821E-5
13-95839117-T-C p.Glu461Glu synonymous ABCC4 1 83288 1.20065E-5 41644 0 NA
13-95839122-C-T p.Gly460Arg missense ABCC4 7 83260 8.4074E-5 41630 0 2.0016E-4
13-95839123-G-A p.Leu459Leu synonymous ABCC4 1 83248 1.20123E-5 41624 0 3.40159E-5
13-95839128-C-T p.Val458Met missense ABCC4 18 83236 2.16253E-4 41618 0 2.68036E-4
13-95839129-G-A p.Ala457Ala synonymous ABCC4 2 83218 2.40333E-5 41609 0 2.40678E-5
13-95839138-C-A p.Leu454Leu synonymous ABCC4 6 83146 7.21622E-5 41573 0 0.00100705
13-95839150-A-C c.1354-4T>G splice_region ABCC4 1 82772 1.20814E-5 41386 0 NA
13-95840722-G-A p.Pro446Pro synonymous ABCC4 2 83362 2.39917E-5 41681 0 6.37186E-5
13-95840727-C-T p.Gly445Ser missense ABCC4 3 83374 3.59824E-5 41687 0 5.03525E-4
13-95840728-G-A p.Val444Val synonymous ABCC4 2 83372 2.39889E-5 41686 0 4.12031E-5
13-95840736-C-T p.Ala442Thr missense ABCC4 2 83398 2.39814E-5 41699 0 3.97722E-6
13-95840742-A-T p.Leu440Met missense ABCC4 1 83400 1.19904E-5 41700 0 NA
13-95840746-G-A p.Gly438Gly synonymous ABCC4 3 83390 3.59755E-5 41695 0 3.18593E-5
13-95840764-G-T p.Ser432Ser synonymous ABCC4 6 83380 7.19597E-5 41690 0 5.03525E-4
13-95840778-G-C p.Leu428Val missense ABCC4 1 83370 1.19947E-5 41685 0 3.98302E-6
13-95840784-G-A p.Pro426Ser missense ABCC4 1 83366 1.19953E-5 41683 0 NA
13-95840786-G-C p.Thr425Ser missense ABCC4 1 83356 1.19967E-5 41678 0 NA
13-95847136-C-T p.Gly406Asp missense ABCC4 2 83302 2.4009E-5 41651 0 3.18613E-5
13-95847137-C-G p.Gly406Arg missense ABCC4 1 83304 1.20042E-5 41652 0 NA
13-95847140-C-T p.Asp405Asn missense ABCC4 1 83292 1.2006E-5 41646 0 NA
13-95847144-C-T p.Pro403Pro synonymous ABCC4 10 83288 1.20065E-4 41644 0 2.38682E-5
13-95847144-C-G p.Pro403Pro synonymous ABCC4 1 83290 1.20062E-5 41645 0 NA
13-95847145-G-A p.Pro403Leu missense ABCC4 75 83288 9.0049E-4 41644 0 0.00117857
13-95847155-G-A p.Arg400Cys missense ABCC4 7 83292 8.40417E-5 41646 0 5.17178E-5
13-95847161-G-A p.Arg398Cys missense ABCC4 10 83290 1.20062E-4 41645 0 3.50274E-4
13-95847167-A-C p.Ser396Ala missense ABCC4 2 83286 2.40136E-5 41643 0 3.58135E-5
13-95847167-A-G p.Ser396Pro missense ABCC4 1 83286 1.20068E-5 41643 0 NA
13-95847168-TATCTC-T p.Glu394fs frameshift ABCC4 1 83284 1.20071E-5 41642 0 8.40944E-6
13-95847180-T-C p.Leu391Leu synonymous ABCC4 4 83246 4.80504E-5 41623 0 1.71789E-5
13-95847190-G-T p.Thr388Asn missense+splice_region ABCC4 1 83216 1.20169E-5 41608 0 4.01085E-6
13-95847194-A-G c.1162-3T>C splice_region ABCC4 76 83190 9.13571E-4 41595 4 0.00216245
13-95858778-A-T c.1161+8T>A splice_region ABCC4 1184 83224 0.0142267 41612 10 0.0188241
13-95858797-G-A p.Arg384* stop_gained ABCC4 2 83294 2.40113E-5 41647 0 3.18451E-5
13-95858801-G-A p.Ser382Ser synonymous ABCC4 1 83300 1.20048E-5 41650 0 NA
13-95858802-C-T p.Ser382Asn missense ABCC4 1 83306 1.20039E-5 41653 0 NA
13-95858806-C-T p.Val381Ile missense ABCC4 105 83288 0.00126069 41644 0 0.00125
13-95858810-T-C p.Ala379Ala synonymous ABCC4 1 83290 1.20062E-5 41645 0 NA
13-95858822-C-T p.Arg375Arg synonymous ABCC4 1 83282 1.20074E-5 41641 0 8.23723E-6
13-95858823-C-A p.Arg375Met missense ABCC4 1 83282 1.20074E-5 41641 0 NA
13-95858828-A-G p.Ile373Ile synonymous ABCC4 1 83280 1.20077E-5 41640 0 3.18593E-5
13-95858837-G-A p.Pro370Pro synonymous ABCC4 1 83268 1.20094E-5 41634 0 NA
13-95858847-A-G p.Leu367Pro missense ABCC4 1 83254 1.20114E-5 41627 0 NA
13-95858860-G-C p.Leu363Val missense ABCC4 1 83232 1.20146E-5 41616 0 3.97801E-6
13-95858861-C-T p.Arg362Arg synonymous ABCC4 1 83242 1.20132E-5 41621 0 NA
13-95858864-C-T p.Val361Val synonymous ABCC4 1 83236 1.2014E-5 41618 0 8.23669E-6
13-95858876-C-T p.Leu357Leu synonymous ABCC4 1 83204 1.20187E-5 41602 0 NA
13-95858879-C-T p.Thr356Thr synonymous ABCC4 4 83190 4.80827E-5 41595 0 1.15317E-4
13-95858890-C-T p.Val353Met missense ABCC4 2 83180 2.40442E-5 41590 0 3.18634E-5
13-95858891-G-A p.Phe352Phe synonymous ABCC4 1 83180 1.20221E-5 41590 0 2.47117E-5
13-95858896-C-T p.Val351Met missense ABCC4 1 83172 1.20233E-5 41586 0 2.47117E-5
13-95858897-G-A p.Arg350Arg synonymous ABCC4 3 83164 3.60733E-5 41582 0 8.23723E-6
13-95858899-G-A p.Arg350Cys missense ABCC4 3 83158 3.60759E-5 41579 0 2.47117E-5
13-95858900-G-A p.Ser349Ser synonymous ABCC4 1 83158 1.20253E-5 41579 0 NA
13-95858903-G-A p.Ala348Ala synonymous ABCC4 3 83162 3.60742E-5 41581 0 8.23723E-6
13-95858908-T-G p.Thr347Pro missense ABCC4 1 83156 1.20256E-5 41578 0 3.97826E-6
13-95858910-A-G p.Ile346Thr missense ABCC4 1 83154 1.20259E-5 41577 0 NA
13-95858912-C-G p.Val345Val synonymous ABCC4 2 83158 2.40506E-5 41579 0 NA
13-95858912-C-T p.Val345Val synonymous ABCC4 437 83148 0.00525569 41574 1 0.0115811
13-95858921-G-A p.Leu342Leu synonymous ABCC4 6 83130 7.21761E-5 41565 0 5.03525E-4
13-95858924-G-A p.Leu341Leu synonymous ABCC4 1 83130 1.20294E-5 41565 0 NA
13-95858930-G-A p.Tyr339Tyr synonymous ABCC4 32 83140 3.84893E-4 41570 0 0.00453172
13-95858953-C-T p.Val332Met missense ABCC4 22 83128 2.64652E-4 41564 1 2.54623E-4
13-95858957-G-A p.Ile330Ile synonymous ABCC4 2 83126 2.40599E-5 41563 0 NA
13-95858978-T-C p.Ser323Ser synonymous ABCC4 51662 82620 0.625297 41310 16208 0.654637
13-95858996-T-C p.Arg317Arg synonymous ABCC4 47211 82228 0.574147 41114 13807 0.604254
13-95859005-G-A p.Ser314Ser synonymous ABCC4 1 83174 1.2023E-5 41587 0 NA
13-95859021-T-C p.Lys309Arg missense ABCC4 2 83186 2.40425E-5 41593 0 NA
13-95859021-T-G p.Lys309Thr missense ABCC4 1 83186 1.20213E-5 41593 0 NA
13-95859022-T-G p.Lys309Gln missense ABCC4 1 83188 1.2021E-5 41594 0 1.6506E-5
13-95859035-C-A p.Lys304Asn missense+splice_region ABCC4 7579 82766 0.0915714 41383 385 0.13142
13-95859040-AAG-A c.912-7_912-6delCT splice_region ABCC4 2 83090 2.40703E-5 41545 0 3.98302E-6
13-95860057-C-T p.Arg303Lys missense ABCC4 2 83192 2.40408E-5 41596 0 NA
13-95860063-T-A p.Asn301Ile missense ABCC4 1 83228 1.20152E-5 41614 0 NA
13-95860065-G-T p.Thr300Thr synonymous ABCC4 1 83242 1.20132E-5 41621 0 NA
13-95860071-A-G p.Leu298Leu synonymous ABCC4 1 83268 1.20094E-5 41634 0 NA
13-95860075-T-C p.Asn297Ser missense ABCC4 10 83284 1.20071E-4 41642 0 9.13849E-5
13-95860088-T-C p.Lys293Glu missense ABCC4 27 83314 3.24075E-4 41657 0 2.67378E-4
13-95860098-G-A p.Tyr289Tyr synonymous ABCC4 11 83336 1.31996E-4 41668 0 1.07946E-4
13-95860123-G-A p.Thr281Ile missense ABCC4 8 83356 9.59739E-5 41678 0 0.0025
13-95860126-A-G p.Ile280Thr missense ABCC4 1 83358 1.19964E-5 41679 0 NA
13-95860135-T-C p.Asn277Ser missense ABCC4 1 83352 1.19973E-5 41676 0 NA
13-95860138-A-G p.Met276Thr missense ABCC4 1 83342 1.19988E-5 41671 0 7.96476E-6
13-95860140-G-A p.Thr275Thr synonymous ABCC4 1 83344 1.19985E-5 41672 0 2.47109E-5
13-95860153-G-A p.Ala271Val missense ABCC4 1 83336 1.19996E-5 41668 0 3.98995E-6
13-95860156-T-A p.Asp270Val missense ABCC4 1 83334 1.19999E-5 41667 0 NA
13-95860162-A-G p.Phe268Ser missense ABCC4 1 83328 1.20008E-5 41664 0 8.23791E-6
13-95860173-T-C p.Lys264Lys synonymous ABCC4 1 83308 1.20036E-5 41654 0 NA
13-95861697-G-A p.Ser259Leu missense ABCC4 1 83166 1.20241E-5 41583 0 3.98178E-6
13-95861699-GAAC-G p.Leu257del disruptive_inframe_deletion ABCC4 1 83158 1.20253E-5 41579 0 NA
13-95861709-C-A p.Gly255Val missense ABCC4 1 83180 1.20221E-5 41590 0 0.00100705
13-95861731-G-A p.Leu248Leu synonymous ABCC4 1 83168 1.20239E-5 41584 0 3.1837E-5
13-95861741-T-C p.Leu244Leu synonymous ABCC4 5 83164 6.01222E-5 41582 0 3.18471E-5
13-95861761-G-A p.Leu238Phe missense ABCC4 3 83126 3.60898E-5 41563 0 7.16372E-5
13-95861766-G-A p.Ser236Leu missense ABCC4 4 83126 4.81197E-5 41563 0 3.1837E-5
13-95861767-A-G p.Ser236Pro missense ABCC4 2 83132 2.40581E-5 41566 0 1.23689E-4
13-95861793-G-C p.Ala227Gly missense ABCC4 1 83064 1.20389E-5 41532 0 9.5511E-5
13-95861794-C-A p.Ala227Ser missense ABCC4 8 83064 9.63113E-5 41532 0 6.25E-4
13-95861804-A-G p.Ile223Ile synonymous ABCC4 67155 81568 0.823301 40784 27746 0.83396
13-95861827-A-G p.Trp216Arg missense ABCC4 1 82974 1.2052E-5 41487 0 8.02832E-6
13-95861834-G-A p.His213His synonymous ABCC4 1 82934 1.20578E-5 41467 0 4.01149E-6
13-95861844-A-G p.Val210Ala missense ABCC4 6 82790 7.24725E-5 41395 0 6.36821E-5
13-95861854-T-G c.622-3A>C splice_region ABCC4 5 82598 6.05342E-5 41299 1 1.20725E-4
13-95862941-C-T c.621+5G>A splice_region ABCC4 5 83260 6.00528E-5 41630 0 9.55292E-5
13-95862975-G-A p.Leu198Leu synonymous ABCC4 1 83322 1.20016E-5 41661 0 3.97763E-6
13-95862980-T-C p.Asn196Ser missense ABCC4 1 83316 1.20025E-5 41658 0 8.2616E-6
13-95862996-T-C p.Thr191Ala missense ABCC4 2 83306 2.40079E-5 41653 0 NA
13-95862997-G-A p.Thr190Thr synonymous ABCC4 1 83300 1.20048E-5 41650 0 8.27609E-6
13-95863004-T-G p.Lys188Thr missense ABCC4 3 83302 3.60135E-5 41651 0 3.98036E-4
13-95863008-C-A p.Gly187Trp missense ABCC4 2692 83192 0.0323589 41596 54 0.05375
13-95863011-T-C p.Met186Val missense ABCC4 1 83286 1.20068E-5 41643 0 3.9782E-6
13-95863016-A-G p.Met184Thr missense ABCC4 47 83268 5.64443E-4 41634 0 0.00241946
13-95863017-T-A p.Met184Leu missense ABCC4 1 83272 1.20088E-5 41636 0 3.97864E-6
13-95863021-A-T p.Ser182Arg missense ABCC4 1 83264 1.201E-5 41632 0 7.95925E-6
13-95863028-C-T p.Arg180His missense ABCC4 1 83236 1.2014E-5 41618 0 2.54539E-5
13-95863033-T-G p.Ala178Ala splice_region+synonymous ABCC4 1 83200 1.20192E-5 41600 0 NA
13-95886868-C-T p.Arg176Gln missense ABCC4 1 83046 1.20415E-5 41523 0 3.18735E-5
13-95886869-G-A p.Arg176Trp missense ABCC4 2 83060 2.4079E-5 41530 0 4.12528E-5
13-95886876-CAT-C p.Met173fs frameshift ABCC4 2 83098 2.4068E-5 41549 0 NA
13-95886880-T-C p.His172Arg missense ABCC4 1 83102 1.20334E-5 41551 0 6.3678E-5
13-95886887-T-C p.Met170Val missense ABCC4 2 83112 2.40639E-5 41556 0 8.24525E-6
13-95886892-A-G p.Val168Ala missense ABCC4 1 83134 1.20288E-5 41567 0 3.18593E-5
13-95886911-C-A p.Ala162Ser missense ABCC4 10 83134 1.20288E-4 41567 0 0.00151057
13-95886921-G-A p.His158His synonymous ABCC4 1 83132 1.20291E-5 41566 0 1.99014E-5
13-95886942-C-T p.Leu151Leu synonymous ABCC4 1 83192 1.20204E-5 41596 0 1.65068E-5
13-95886945-T-G p.Ile150Ile synonymous ABCC4 7 83196 8.41387E-5 41598 0 4.14013E-4
13-95886947-T-C p.Ile150Val missense ABCC4 1 83194 1.20201E-5 41597 0 3.18532E-5
13-95886960-C-G p.Thr145Thr synonymous ABCC4 1 83216 1.20169E-5 41608 0 1.59205E-5
13-95886960-C-T p.Thr145Thr synonymous ABCC4 1 83216 1.20169E-5 41608 0 5.9702E-5
13-95886961-G-A p.Thr145Met missense ABCC4 9 83224 1.08142E-4 41612 0 9.09798E-5
13-95886972-C-G p.Leu141Leu synonymous ABCC4 1 83228 1.20152E-5 41614 0 3.97972E-6
13-95886976-A-G p.Val140Ala missense ABCC4 1 83212 1.20175E-5 41606 0 7.95976E-6
13-95886977-C-T p.Val140Met missense ABCC4 5 83206 6.00918E-5 41603 1 3.18532E-5
13-95886978-C-T p.Thr139Thr synonymous ABCC4 9 83208 1.08163E-4 41604 0 3.18573E-5
13-95886979-G-A p.Thr139Met missense ABCC4 3 83218 3.60499E-5 41609 0 1.66364E-5
13-95886989-C-T p.Ala136Thr missense ABCC4 1 83200 1.20192E-5 41600 0 1.19427E-5
13-95886990-G-A p.Tyr135Tyr synonymous ABCC4 2 83190 2.40414E-5 41595 0 6.36983E-5
13-95886993-C-T p.Ala134Ala synonymous ABCC4 8 83210 9.61423E-5 41605 0 1.2738E-4
13-95886997-G-C p.Thr133Arg missense ABCC4 1 83210 1.20178E-5 41605 0 NA
13-95887005-A-C p.Ala130Ala synonymous ABCC4 1 83204 1.20187E-5 41602 0 8.64857E-6
13-95887021-G-T p.Pro125His missense ABCC4 1 83180 1.20221E-5 41590 0 8.02755E-6
13-95887038-A-AT p.Tyr119fs frameshift ABCC4 2 83098 2.4068E-5 41549 0 8.87398E-6
13-95887038-ATAAT-A p.Asn118fs frameshift ABCC4 2 83098 2.4068E-5 41549 0 1.53908E-5
13-95887053-T-C p.Gly114Gly synonymous ABCC4 6 82928 7.23519E-5 41464 0 1.91168E-4
13-95887060-AATATGGGCTGGAT-A p.Ile108fs frameshift ABCC4 2 82834 2.41447E-5 41417 0 NA
13-95887073-T-A p.Ile108Phe missense ABCC4 1 82626 1.21027E-5 41313 0 NA
13-95899222-C-A c.306+7G>T splice_region ABCC4 1 83166 1.20241E-5 41583 0 1.6578E-5
13-95899229-C-T p.Glu102Glu splice_region+synonymous ABCC4 1 83214 1.20172E-5 41607 0 NA
13-95899238-C-T p.Thr99Thr synonymous ABCC4 1 83216 1.20169E-5 41608 0 3.18512E-5
13-95899239-G-A p.Thr99Met missense ABCC4 3 83226 3.60464E-5 41613 0 3.29984E-5
13-95899241-A-AC p.Phe98fs frameshift ABCC4 12 83230 1.44179E-4 41615 0 6.36902E-5
13-95899272-T-G p.Tyr88Ser missense ABCC4 1 83240 1.20135E-5 41620 0 3.18471E-5
13-95899275-C-G p.Cys87Ser missense ABCC4 3 83236 3.60421E-5 41618 0 NA
13-95899277-C-T p.Lys86Lys synonymous ABCC4 1 83240 1.20135E-5 41620 0 NA
13-95899286-T-C p.Ala83Ala synonymous ABCC4 2 83246 2.40252E-5 41623 0 NA
13-95899288-C-T p.Ala83Thr missense ABCC4 2 83242 2.40263E-5 41621 0 8.239E-6
13-95899289-T-G p.Arg82Ser missense ABCC4 4 83246 4.80504E-5 41623 0 3.1841E-5
13-95899292-T-C p.Thr81Thr synonymous ABCC4 1 83244 1.20129E-5 41622 0 3.97928E-6
13-95899297-A-G p.Leu80Leu synonymous ABCC4 6 83238 7.20825E-5 41619 0 9.54988E-5
13-95899302-G-A p.Pro78Leu missense ABCC4 3 83230 3.60447E-5 41615 0 2.78587E-5
13-95899303-G-C p.Pro78Ala missense ABCC4 23 83216 2.76389E-4 41608 0 8.07448E-4
13-95899304-C-T p.Lys77Lys synonymous ABCC4 1 83226 1.20155E-5 41613 0 NA
13-95899312-C-T p.Ala75Thr missense ABCC4 2 83202 2.40379E-5 41601 0 NA
13-95899312-C-A p.Ala75Ser missense ABCC4 1 83202 1.20189E-5 41601 0 NA
13-95899317-T-C p.Asn73Ser missense ABCC4 3 83194 3.60603E-5 41597 0 2.34901E-4
13-95899346-G-C p.Phe63Leu missense ABCC4 2 83106 2.40657E-5 41553 0 8.24348E-6
13-95899351-T-G c.186-2A>C splice_acceptor ABCC4 1 83086 1.20357E-5 41543 0 NA
13-95899354-A-G c.186-5T>C splice_region ABCC4 25503 82378 0.309585 41189 4309 0.315269
13-95899889-C-T c.185+8G>A splice_region ABCC4 2 83184 2.40431E-5 41592 0 1.07923E-4
13-95899890-G-A c.185+7C>T splice_region ABCC4 421 83178 0.00506143 41589 7 0.0129767
13-95899892-C-G c.185+5G>C splice_region ABCC4 4 83212 4.807E-5 41606 0 6.62987E-5
13-95899893-T-G c.185+4A>C splice_region ABCC4 2 83222 2.40321E-5 41611 0 3.98492E-6
13-95899905-C-A p.Glu59Asp missense ABCC4 3 83264 3.603E-5 41632 0 3.18613E-5
13-95899915-A-C p.Leu56Arg missense ABCC4 1 83288 1.20065E-5 41644 0 3.97972E-6
13-95899923-T-C p.Ser53Ser synonymous ABCC4 3 83288 3.60196E-5 41644 0 3.18552E-5
13-95899926-G-A p.Arg52Arg synonymous ABCC4 1 83276 1.20083E-5 41638 0 1.19362E-5
13-95899927-C-T p.Arg52His missense ABCC4 1 83282 1.20074E-5 41641 0 5.03525E-4
13-95899928-G-A p.Arg52Cys missense ABCC4 3 83286 3.60205E-5 41643 0 6.59457E-5
13-95899934-C-T p.Glu50Lys missense ABCC4 1 83298 1.20051E-5 41649 0 7.41852E-5
13-95899943-C-G p.Val47Leu missense ABCC4 3 83300 3.60144E-5 41650 0 NA
13-95899943-C-T p.Val47Met missense ABCC4 1 83300 1.20048E-5 41650 0 NA
13-95899956-A-G p.Asp42Asp synonymous ABCC4 2 83298 2.40102E-5 41649 0 3.18654E-5
13-95899957-T-A p.Asp42Val missense ABCC4 1 83294 1.20057E-5 41647 0 8.24198E-6
13-95899972-C-T p.Arg37Gln missense ABCC4 5 83282 6.0037E-5 41641 0 6.25E-4
13-95899973-G-A p.Arg37Trp missense ABCC4 2 83278 2.40159E-5 41639 0 3.18613E-5
13-95899977-A-G p.His35His synonymous ABCC4 7 83274 8.40599E-5 41637 0 8.24402E-6
13-95899978-T-C p.His35Arg missense ABCC4 1 83272 1.20088E-5 41636 0 NA
13-95900005-CACCTGTTAACAAGAGAAAAGAGACATATATCCAGAATTACACATCCGTGTTTAAGTAGACTCCTACCTCCATGGGTTTTGCTTAAACTT-C p.Trp26fs frameshift ABCC4 4 83222 4.80642E-5 41611 2 NA
13-95921679-C-CAA c.75-4_75-3insTT splice_region ABCC4 42 3432 0.0122378 1716 12 0.306259
13-95921679-CA-C c.75-4delT splice_region ABCC4 3 3462 8.66551E-4 1731 1 0.0277778
13-95921679-C-CA c.75-4_75-3insT splice_region ABCC4 6 3488 0.00172018 1744 1 0.0276693
13-95921679-C-CAAAAAA c.75-4_75-3insTTTTTT splice_region ABCC4 3 3486 8.60585E-4 1743 1 8.3167E-4
13-95921679-CAA-C c.75-5_75-4delTT splice_region ABCC4 3 3490 8.59599E-4 1745 0 NA
13-95921679-C-CAAAA c.75-4_75-3insTTTT splice_region ABCC4 7 3482 0.00201034 1741 2 0.00390494
13-95921679-C-A c.75-3G>T splice_region ABCC4 2 3492 5.72738E-4 1746 0 NA
13-95921679-C-CAAA c.75-4_75-3insTTT splice_region ABCC4 2 3494 5.7241E-4 1747 1 0.00161776
13-95953516-A-T p.Leu18His missense ABCC4 1 74856 1.3359E-5 37428 0 NA
13-95953517-G-T p.Leu18Ile missense ABCC4 1348 74620 0.0180649 37310 13 0.030625
13-95953524-G-A p.Asp15Asp synonymous ABCC4 1 74354 1.34492E-5 37177 0 4.37775E-6
13-95953537-T-C p.Asn11Ser missense ABCC4 1 73456 1.36136E-5 36728 0 NA
13-95953540-G-C p.Pro10Arg missense ABCC4 2 73154 2.73396E-5 36577 0 3.26563E-5
13-95953548-C-T p.Glu7Glu synonymous ABCC4 1 72524 1.37885E-5 36262 0 3.2078E-5
13-95953552-T-C p.Gln6Arg missense ABCC4 1 72170 1.38562E-5 36085 0 3.2173E-5
13-95953559-C-T p.Val4Met missense ABCC4 1 70950 1.40944E-5 35475 0 1.16825E-5
13-95953560-G-T p.Pro3Pro synonymous ABCC4 5 70868 7.05537E-5 35434 0 8.49716E-5
13-95953560-G-C p.Pro3Pro synonymous ABCC4 2 70868 2.82215E-5 35434 0 1.05207E-4
13-95953575-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain ABCC4 2 68074 2.93798E-5 34037 0 4.35717E-5
13-95953579-G-A c.-11C>T 5_prime_UTR_premature_start_codon_gain ABCC4 1 66644 1.50051E-5 33322 0 9.8667E-6
13-95953617-G-A c.-49C>T 5_prime_UTR_premature_start_codon_gain ABCC4 1099 54400 0.0202022 27200 17 0.0354041
13-95953651-G-A c.-83C>T 5_prime_UTR_premature_start_codon_gain ABCC4 3 43442 6.90576E-5 21721 0 NA