Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-20662925-G-C p.Arg6Thr missense ABCB5 2 81228 2.46221E-5 40614 0 NA
7-20662927-G-A p.Ala7Thr missense ABCB5 4 81218 4.92502E-5 40609 0 3.18634E-5
7-20662947-T-C p.Asn13Asn synonymous ABCB5 1 81238 1.23095E-5 40619 0 NA
7-20662957-A-G p.Asn17Asp missense ABCB5 25 81218 3.07814E-4 40609 0 4.77859E-4
7-20662961-G-C p.Gly18Ala missense+splice_region ABCB5 7 81160 8.62494E-5 40580 1 1.36761E-4
7-20662967-C-T c.53+6C>T splice_region ABCB5 1 81080 1.23335E-5 40540 0 9.12242E-5
7-20666184-G-T p.Ala20Ser missense ABCB5 2 81872 2.44284E-5 40936 0 NA
7-20666185-CAGA-C p.Glu22del conservative_inframe_deletion ABCB5 5 81888 6.1059E-5 40944 0 5.05051E-4
7-20666190-G-C p.Glu22Gln missense ABCB5 1 81930 1.22055E-5 40965 0 1.40548E-5
7-20666191-A-C p.Glu22Ala missense ABCB5 79 81938 9.64144E-4 40969 0 0.00206967
7-20666196-C-CT p.Pro24fs frameshift ABCB5 1 81952 1.22023E-5 40976 0 NA
7-20666206-G-T p.Arg27Ile missense ABCB5 4 81982 4.87912E-5 40991 0 2.69825E-5
7-20666218-T-A p.Val31Asp missense ABCB5 1 81910 1.22085E-5 40955 0 2.75202E-5
7-20666220-G-A p.Gly32Arg missense ABCB5 1 81896 1.22106E-5 40948 0 4.21656E-6
7-20666221-G-T p.Gly32Val missense ABCB5 2 81882 2.44254E-5 40941 0 2.77116E-5
7-20666226-A-G p.Ile34Val missense ABCB5 72 81822 8.79959E-4 40911 0 5.12522E-4
7-20666227-T-C p.Ile34Thr missense ABCB5 1 81824 1.22214E-5 40912 0 6.36862E-5
7-20666233-T-C p.Ile36Thr missense+splice_region ABCB5 1 81752 1.22321E-5 40876 0 NA
7-20666235-G-C c.108+1G>C splice_donor ABCB5 2822 81670 0.0345537 40835 319 0.111373
7-20666237-A-C c.108+3A>C splice_region ABCB5 15 81694 1.83612E-4 40847 0 4.13881E-4
7-20668308-C-T c.109-3C>T splice_region ABCB5 1 82470 1.21256E-5 41235 0 6.10168E-5
7-20668310-G-T c.109-1G>T splice_acceptor ABCB5 5 82468 6.06296E-5 41234 0 NA
7-20668312-T-C p.Phe37Ser missense+splice_region ABCB5 1 82486 1.21233E-5 41243 0 4.05581E-6
7-20668314-C-T p.Arg38Cys missense ABCB5 1 82494 1.21221E-5 41247 0 2.02716E-5
7-20668315-G-A p.Arg38His missense ABCB5 1 82504 1.21206E-5 41252 0 0.001875
7-20668316-C-G p.Arg38Arg synonymous ABCB5 1 82524 1.21177E-5 41262 0 NA
7-20668318-T-A p.Phe39Tyr missense ABCB5 1 82534 1.21162E-5 41267 0 NA
7-20668332-G-T p.Asp44Tyr missense ABCB5 5 82572 6.05532E-5 41286 0 3.62194E-5
7-20668336-T-A p.Ile45Asn missense ABCB5 1 82580 1.21095E-5 41290 0 1.2091E-4
7-20668339-C-A p.Thr46Lys missense ABCB5 2 82582 2.42184E-5 41291 0 NA
7-20668341-C-A p.Leu47Ile missense ABCB5 2 82588 2.42166E-5 41294 0 6.37308E-5
7-20668342-T-C p.Leu47Pro missense ABCB5 1 82592 1.21077E-5 41296 0 8.87705E-6
7-20668343-C-T p.Leu47Leu synonymous ABCB5 8 82598 9.68546E-5 41299 0 1.59418E-4
7-20668349-C-G p.Ile49Met missense ABCB5 1 82618 1.21039E-5 41309 0 6.15753E-5
7-20668378-G-T p.Gly59Val missense ABCB5 1 82702 1.20916E-5 41351 0 NA
7-20668379-A-T p.Gly59Gly synonymous ABCB5 1 82700 1.20919E-5 41350 0 NA
7-20668381-C-A p.Ala60Asp missense ABCB5 3 82704 3.62739E-5 41352 0 3.18674E-5
7-20668383-TG-T p.Cys61fs frameshift ABCB5 2 82708 2.41815E-5 41354 0 8.5147E-6
7-20668385-C-T p.Cys61Cys synonymous ABCB5 2 82712 2.41803E-5 41356 0 8.50485E-6
7-20668403-G-A p.Leu67Leu synonymous ABCB5 232 82718 0.00280471 41359 2 0.00560724
7-20668411-G-A p.Gly70Glu missense ABCB5 3 82716 3.62687E-5 41358 0 4.02291E-6
7-20668420-G-C p.Ser73Thr missense ABCB5 1 82696 1.20925E-5 41348 0 8.41085E-6
7-20668421-T-A p.Ser73Arg missense ABCB5 1 82704 1.20913E-5 41352 0 NA
7-20668424-T-C p.Asp74Asp synonymous ABCB5 6 82708 7.25444E-5 41354 0 0.0020141
7-20668426-A-T p.Asn75Ile missense ABCB5 6 82704 7.25479E-5 41352 0 9.55536E-5
7-20668436-T-TG p.Cys80fs frameshift ABCB5 1 82680 1.20948E-5 41340 0 1.20835E-5
7-20668446-G-C p.Val82Leu missense ABCB5 2 82648 2.4199E-5 41324 0 2.53276E-5
7-20668448-C-A p.Val82Val synonymous ABCB5 1 82636 1.21013E-5 41318 0 4.02521E-6
7-20668453-C-T p.Thr84Ile missense ABCB5 2 82622 2.42066E-5 41311 0 NA
7-20668459-C-A p.Thr86Lys missense+splice_region ABCB5 10 82604 1.2106E-4 41302 0 5.94975E-5
7-20668467-T-A c.259+6T>A splice_region ABCB5 39 82516 4.72636E-4 41258 0 2.9459E-4
7-20671680-A-C c.260-2A>C splice_acceptor ABCB5 1 78488 1.27408E-5 39244 0 6.25782E-4
7-20671688-A-T p.Tyr89Phe missense ABCB5 1 78890 1.26759E-5 39445 0 7.28449E-6
7-20671688-A-G p.Tyr89Cys missense ABCB5 2 78890 2.53518E-5 39445 0 7.28449E-6
7-20671690-C-T p.Gln90* stop_gained ABCB5 1 78952 1.26659E-5 39476 0 7.30364E-6
7-20671691-A-C p.Gln90Pro missense ABCB5 1 78994 1.26592E-5 39497 0 NA
7-20671692-G-T p.Gln90His missense ABCB5 1 79132 1.26371E-5 39566 0 NA
7-20671696-T-C p.Cys92Arg missense ABCB5 1 79228 1.26218E-5 39614 0 NA
7-20671698-T-C p.Cys92Cys synonymous ABCB5 1 79288 1.26122E-5 39644 0 NA
7-20671713-G-T p.Glu97Asp missense ABCB5 1 79326 1.26062E-5 39663 0 NA
7-20671719-G-T p.Leu99Leu synonymous ABCB5 10 79314 1.26081E-4 39657 0 0.0010582
7-20671729-A-T p.Met103Leu missense ABCB5 1 79276 1.26142E-5 39638 0 NA
7-20671733-C-G p.Thr104Ser missense ABCB5 2 79086 2.52889E-5 39543 0 1.42126E-4
7-20671737-G-T c.314+1G>T splice_donor ABCB5 1 78878 1.26778E-5 39439 0 NA
7-20671740-A-G c.314+4A>G splice_region ABCB5 1 78944 1.26672E-5 39472 0 NA
7-20682822-T-C p.Tyr110Tyr synonymous ABCB5 2 82548 2.42283E-5 41274 0 NA
7-20682828-A-C p.Gly112Gly synonymous ABCB5 1 82604 1.2106E-5 41302 0 0.001875
7-20682842-C-T p.Ala117Val missense ABCB5 1 82656 1.20983E-5 41328 0 NA
7-20682857-A-T p.Tyr122Phe missense ABCB5 7 82694 8.46494E-5 41347 0 7.6658E-5
7-20682862-C-A p.Gln124Lys missense ABCB5 2 82700 2.41838E-5 41350 0 NA
7-20682868-T-C p.Ser126Pro missense ABCB5 7 82726 8.46167E-5 41363 0 9.06536E-6
7-20682871-T-C p.Leu127Leu synonymous ABCB5 1 82728 1.20878E-5 41364 0 NA
7-20682873-G-A p.Leu127Leu synonymous ABCB5 1 82734 1.20869E-5 41367 0 3.6252E-5
7-20682874-T-C p.Trp128Arg missense ABCB5 3 82742 3.62573E-5 41371 0 8.93735E-6
7-20682876-G-T p.Trp128Cys missense ABCB5 11 82736 1.32953E-4 41368 0 9.55292E-5
7-20682884-C-T p.Thr131Ile missense ABCB5 2615 82700 0.0316203 41350 52 0.0525
7-20682885-T-G p.Thr131Thr synonymous ABCB5 1 82754 1.2084E-5 41377 0 3.18451E-5
7-20682891-A-G p.Ala133Ala synonymous ABCB5 1 82770 1.20817E-5 41385 0 8.04874E-6
7-20682892-C-T p.Arg134* stop_gained ABCB5 76 82766 9.18251E-4 41383 0 0.00184678
7-20682892-C-A p.Arg134Arg synonymous ABCB5 1 82766 1.20823E-5 41383 0 NA
7-20682893-G-A p.Arg134Gln missense ABCB5 4 82764 4.83302E-5 41382 0 1.59246E-4
7-20682900-C-T p.Thr136Thr synonymous ABCB5 15 82774 1.81216E-4 41387 0 1.24723E-4
7-20682902-A-G p.Lys137Arg missense ABCB5 2 82778 2.4161E-5 41389 0 NA
7-20682910-C-T p.Arg140* stop_gained ABCB5 2 82784 2.41593E-5 41392 0 8.42801E-6
7-20682911-G-A p.Arg140Gln missense ABCB5 4 82788 4.83162E-5 41394 0 3.1841E-5
7-20682918-GT-G p.His145fs frameshift ABCB5 1 82790 1.20788E-5 41395 0 3.18512E-5
7-20682925-C-T p.His145Tyr missense ABCB5 2 82796 2.41558E-5 41398 0 3.19285E-5
7-20682931-G-T p.Val147Phe missense ABCB5 1 82802 1.2077E-5 41401 0 4.02026E-6
7-20682931-G-C p.Val147Leu missense ABCB5 1 82802 1.2077E-5 41401 0 4.02026E-6
7-20682936-G-A p.Leu148Leu synonymous ABCB5 2 82806 2.41528E-5 41403 0 NA
7-20682948-C-T p.Ile152Ile synonymous ABCB5 1 82800 1.20773E-5 41400 0 4.02246E-6
7-20682949-G-A p.Gly153Ser missense ABCB5 72 82802 8.69544E-4 41401 2 0.00302115
7-20682950-G-A p.Gly153Asp missense ABCB5 1 82804 1.20767E-5 41402 0 0.00100705
7-20682960-T-C p.Asp156Asp synonymous ABCB5 10 82786 1.20793E-4 41393 0 1.27332E-4
7-20682966-T-TGAC p.Asp159dup conservative_inframe_insertion ABCB5 1 82784 1.20796E-5 41392 0 NA
7-20682970-A-C p.Ile160Leu missense ABCB5 1 82790 1.20788E-5 41395 0 NA
7-20682978-A-G p.Glu162Glu synonymous ABCB5 1 82798 1.20776E-5 41399 0 1.2063E-5
7-20682979-C-CT p.Asn164fs frameshift ABCB5 1 82796 1.20779E-5 41398 0 6.3678E-5
7-20682988-C-T p.Arg166Cys missense ABCB5 1 82798 1.20776E-5 41399 0 6.3678E-5
7-20682989-G-A p.Arg166His missense ABCB5 44 82802 5.31388E-4 41401 0 0.00165737
7-20682996-A-G p.Thr168Thr splice_region+synonymous ABCB5 1 82796 1.20779E-5 41398 0 1.27364E-4
7-20683077-G-C c.507-7G>C splice_region ABCB5 7 82764 8.45778E-5 41382 0 6.25E-4
7-20683089-T-C p.Ile171Thr missense ABCB5 2 82742 2.41715E-5 41371 0 3.1835E-5
7-20683093-C-CA p.Ile174fs frameshift ABCB5 1 82736 1.20866E-5 41368 0 NA
7-20683102-T-G p.Ser175Arg missense ABCB5 2 82692 2.41861E-5 41346 0 1.20633E-5
7-20683103-G-A p.Asp176Asn missense ABCB5 1 82696 1.20925E-5 41348 0 8.3167E-6
7-20683103-G-T p.Asp176Tyr missense ABCB5 1 82696 1.20925E-5 41348 0 NA
7-20683107-G-T p.Gly177Val missense ABCB5 1 82674 1.20957E-5 41337 0 NA
7-20683113-G-A p.Gly179Glu missense ABCB5 1 82632 1.21018E-5 41316 0 NA
7-20683119-A-C p.Lys181Thr missense ABCB5 1 82608 1.21054E-5 41304 0 4.02217E-6
7-20683122-T-C p.Ile182Thr missense ABCB5 11 82582 1.33201E-4 41291 0 2.49489E-5
7-20683125-C-T p.Ala183Val missense ABCB5 2 82564 2.42236E-5 41282 0 NA
7-20683132-G-A p.Leu185Leu synonymous ABCB5 1 82508 1.212E-5 41254 0 9.55779E-5
7-20683142-A-G p.Met189Val missense ABCB5 1 82384 1.21383E-5 41192 0 4.15835E-5
7-20683156-G-A p.Ser193Ser synonymous ABCB5 29 82152 3.53004E-4 41076 0 6.38733E-4
7-20683164-T-C p.Leu196Pro missense ABCB5 1 81980 1.21981E-5 40990 0 NA
7-20683170-T-C p.Val198Ala missense ABCB5 781 81802 0.00954744 40901 2 0.0101149
7-20683174-T-C p.Gly199Gly synonymous ABCB5 1 81702 1.22396E-5 40851 0 4.03213E-6
7-20683183-G-A p.Lys202Lys synonymous ABCB5 1 81432 1.22802E-5 40716 0 3.18451E-5
7-20683194-T-C p.Leu206Pro missense ABCB5 3 80994 3.70398E-5 40497 0 NA
7-20683197-C-T p.Thr207Ile missense ABCB5 19 80842 2.35026E-4 40421 0 4.1396E-4
7-20683198-C-A p.Thr207Thr synonymous ABCB5 1 80780 1.23793E-5 40390 0 NA
7-20683204-G-T p.Val209Val synonymous ABCB5 7999 79558 0.100543 39779 292 0.103419
7-20683206-C-G p.Thr210Ser missense ABCB5 8 80154 9.98079E-5 40077 0 6.47029E-5
7-20683215-C-T p.Thr213Met missense ABCB5 1 79348 1.26027E-5 39674 0 6.37186E-5
7-20683216-G-A p.Thr213Thr synonymous ABCB5 4 79146 5.05395E-5 39573 0 5.86402E-5
7-20683222-T-A p.Pro215Pro synonymous ABCB5 11 78766 1.39654E-4 39383 0 4.45973E-4
7-20683227-T-C p.Ile217Thr missense ABCB5 12 78180 1.53492E-4 39090 0 0.00100806
7-20683232-G-A p.Ala219Thr missense ABCB5 1 77334 1.29309E-5 38667 0 8.42304E-6
7-20683239-C-T p.Ala221Val missense ABCB5 6 75892 7.90597E-5 37946 0 1.52058E-4
7-20683255-G-A p.Arg226Arg splice_region+synonymous ABCB5 56 73066 7.6643E-4 36533 0 0.0014011
7-20683260-G-A c.678+5G>A splice_region ABCB5 1 72308 1.38297E-5 36154 0 4.0871E-6
7-20685379-A-G p.Met227Val missense+splice_region ABCB5 2 82546 2.42289E-5 41273 0 4.02628E-6
7-20685382-G-T p.Val228Phe missense ABCB5 1 82554 1.21133E-5 41277 0 NA
7-20685383-T-C p.Val228Ala missense ABCB5 1 82562 1.21121E-5 41281 0 4.02492E-6
7-20685397-A-C p.Ser233Arg missense ABCB5 12 82592 1.45293E-4 41296 0 2.33331E-4
7-20685405-A-G p.Glu235Glu synonymous ABCB5 1 82618 1.21039E-5 41309 0 2.49609E-5
7-20685410-G-A p.Ser237Asn missense ABCB5 1 82620 1.21036E-5 41310 0 NA
7-20685419-C-CGCATAGCAAGTCTATCCACCTAAAAAATATATTCCA p.Ser240_Lys241insHisSerLysSerIleHisLeuLysAsnIlePheHis disruptive_inframe_insertion ABCB5 1 82622 1.21033E-5 41311 0 NA
7-20685419-C-T p.Ser240Phe missense ABCB5 1 82622 1.21033E-5 41311 0 NA
7-20685436-G-A p.Ala246Thr missense ABCB5 1 82628 1.21024E-5 41314 0 8.31767E-6
7-20685446-T-C p.Val249Ala missense ABCB5 1 82642 1.21004E-5 41321 0 1.20632E-5
7-20685450-G-A p.Leu250Leu synonymous ABCB5 396 82640 0.00479187 41320 7 0.0107678
7-20685456-A-T p.Ser252Ser synonymous ABCB5 1 82642 1.21004E-5 41321 0 NA
7-20685460-C-T p.Arg254* stop_gained ABCB5 4 82642 4.84015E-5 41321 0 5.82227E-5
7-20685463-A-G p.Thr255Ala missense ABCB5 1 82640 1.21007E-5 41320 0 8.04285E-6
7-20685479-G-A p.Arg260Lys missense ABCB5 83 82650 0.00100423 41325 0 0.00229285
7-20685483-C-G p.Ala261Ala synonymous ABCB5 1 82656 1.20983E-5 41328 0 NA
7-20685484-C-A p.Gln262Lys missense ABCB5 2735 82618 0.0331042 41309 312 0.0927378
7-20685486-G-A p.Gln262Gln synonymous ABCB5 1 82662 1.20975E-5 41331 0 3.18532E-5
7-20685493-G-C p.Glu265Gln missense ABCB5 1 82642 1.21004E-5 41321 0 6.37024E-5
7-20685494-A-G p.Glu265Gly missense ABCB5 2 82642 2.42008E-5 41321 0 8.05575E-6
7-20685501-A-T p.Gln267His missense+splice_region ABCB5 2 82638 2.42019E-5 41319 0 NA
7-20685508-T-G c.803+5T>G splice_region ABCB5 26163 82440 0.317358 41220 4371 0.354476
7-20685511-C-T c.803+8C>T splice_region ABCB5 5 82634 6.05078E-5 41317 1 8.32141E-6
7-20685583-G-A c.804-1G>A splice_acceptor ABCB5 2 82628 2.42049E-5 41314 0 NA
7-20685587-T-G p.Tyr269* stop_gained ABCB5 1 82624 1.2103E-5 41312 0 1.66594E-5
7-20685593-G-A p.Gln271Gln synonymous ABCB5 1 82620 1.21036E-5 41310 0 8.32861E-6
7-20685602-A-C p.Lys274Asn missense ABCB5 1 82642 1.21004E-5 41321 0 NA
7-20685613-A-T p.Asp278Val missense ABCB5 6 82634 7.26093E-5 41317 0 3.18471E-5
7-20685622-T-G p.Ile281Arg missense ABCB5 1 82634 1.21016E-5 41317 0 4.16403E-5
7-20685631-C-A p.Thr284Asn missense ABCB5 2 82620 2.42072E-5 41310 0 NA
7-20685644-A-G p.Lys288Lys synonymous ABCB5 1 82592 1.21077E-5 41296 0 3.1839E-5
7-20685645-G-A p.Val289Met missense ABCB5 1 82586 1.21086E-5 41293 0 4.02508E-6
7-20685645-G-T p.Val289Leu missense ABCB5 1 82586 1.21086E-5 41293 0 8.32834E-6
7-20685662-G-A p.Val294Val synonymous ABCB5 1 82592 1.21077E-5 41296 0 3.18532E-5
7-20685670-T-C p.Phe297Ser missense ABCB5 2 82596 2.42142E-5 41298 0 6.36902E-5
7-20685671-T-C p.Phe297Phe synonymous ABCB5 7 82594 8.47519E-5 41297 0 1.27364E-4
7-20685673-T-G p.Met298Arg missense ABCB5 1 82594 1.21074E-5 41297 0 NA
7-20685677-T-A p.Asn299Lys missense ABCB5 1 82582 1.21092E-5 41291 0 6.25E-4
7-20685682-C-A p.Thr301Asn missense ABCB5 1 82568 1.21112E-5 41284 0 NA
7-20685686-T-C p.Tyr302Tyr synonymous ABCB5 8 82566 9.68922E-5 41283 0 0.00100705
7-20685695-T-G p.Ala305Ala synonymous ABCB5 1 82554 1.21133E-5 41277 0 NA
7-20685701-G-A p.Trp307* stop_gained ABCB5 1 82544 1.21148E-5 41272 0 NA
7-20685702-T-A p.Tyr308Asn missense ABCB5 74 82548 8.96448E-4 41274 0 0.00245254
7-20685703-A-G p.Tyr308Cys missense ABCB5 2 82540 2.42307E-5 41270 0 3.18796E-5
7-20685705-G-C p.Gly309Arg missense ABCB5 1 82538 1.21156E-5 41269 0 NA
7-20685706-G-A p.Gly309Glu missense ABCB5 1 82538 1.21156E-5 41269 0 NA
7-20685710-C-G p.Thr310Thr synonymous ABCB5 1 82524 1.21177E-5 41262 0 5.00208E-5
7-20685726-G-T p.Gly316* stop_gained ABCB5 1 82500 1.21212E-5 41250 0 NA
7-20685732-C-A p.Pro318Thr missense ABCB5 1 82482 1.21239E-5 41241 0 NA
7-20685737-A-G p.Gly319Gly synonymous ABCB5 2 82466 2.42524E-5 41233 0 NA
7-20685743-C-T p.Thr321Thr synonymous ABCB5 1 82452 1.21283E-5 41226 0 8.06901E-6
7-20685747-G-A p.Gly323Arg missense ABCB5 4 82416 4.85343E-5 41208 0 1.67656E-5
7-20685748-G-A p.Gly323Glu missense ABCB5 3 82414 3.64016E-5 41207 0 3.35334E-5
7-20685749-G-T p.Gly323Gly synonymous ABCB5 3 82412 3.64025E-5 41206 0 NA
7-20685749-G-C p.Gly323Gly synonymous ABCB5 1 82412 1.21342E-5 41206 0 NA
7-20685760-C-T p.Ala327Val missense+splice_region ABCB5 1 82322 1.21474E-5 41161 0 4.12228E-6
7-20685760-C-G p.Ala327Gly missense+splice_region ABCB5 1 82322 1.21474E-5 41161 0 NA
7-20685763-T-C c.981+2T>C splice_donor ABCB5 2 82276 2.43084E-5 41138 0 NA
7-20686968-T-G c.-544T>G 5_prime_UTR_premature_start_codon_gain ABCB5 1 68464 1.46062E-5 34232 0 3.1841E-5
7-20686975-C-T c.-537C>T 5_prime_UTR_premature_start_codon_gain ABCB5 4 69096 5.78905E-5 34548 0 1.27397E-4
7-20686995-A-G n.43A>G splice_region ABCB5 2 71730 2.78823E-5 35865 0 NA
7-20687004-T-C n.45+7T>C splice_region ABCB5 1 72750 1.37457E-5 36375 0 NA
7-20687005-G-A c.-507G>A 5_prime_UTR_premature_start_codon_gain ABCB5 27 72912 3.70309E-4 36456 0 5.09911E-4
7-20687005-G-C c.-507G>C 5_prime_UTR_premature_start_codon_gain ABCB5 2 72912 2.74303E-5 36456 0 NA
7-20687041-C-G c.-471C>G 5_prime_UTR_premature_start_codon_gain ABCB5 3 76624 3.91522E-5 38312 0 2.86734E-4
7-20687092-A-G c.-420A>G 5_prime_UTR_premature_start_codon_gain ABCB5 1 81108 1.23292E-5 40554 0 NA
7-20687100-C-G c.-412C>G 5_prime_UTR_premature_start_codon_gain ABCB5 1 81532 1.22651E-5 40766 0 NA
7-20687102-A-G c.-410A>G 5_prime_UTR_premature_start_codon_gain ABCB5 2 81586 2.4514E-5 40793 0 NA
7-20687136-A-G c.-376A>G 5_prime_UTR_premature_start_codon_gain ABCB5 1 82092 1.21815E-5 41046 0 4.22226E-5
7-20687140-CTTTG-C c.982-11_982-8delTGTT splice_region ABCB5 8 82096 9.74469E-5 41048 0 1.27405E-4
7-20687162-TC-T p.Phe330fs frameshift ABCB5 1 82202 1.21652E-5 41101 0 NA
7-20687171-T-C p.Val332Ala missense ABCB5 2 82248 2.43167E-5 41124 0 6.25E-4
7-20687173-A-T p.Ile333Phe missense ABCB5 2 82246 2.43173E-5 41123 0 6.36821E-5
7-20687177-A-G p.His334Arg missense ABCB5 8 82266 9.72455E-5 41133 0 9.77966E-6
7-20687178-T-C p.His334His synonymous ABCB5 1 82266 1.21557E-5 41133 0 2.9262E-5
7-20687181-C-T p.Ser335Ser synonymous ABCB5 18560 81878 0.226679 40939 2292 0.313861
7-20687184-T-C p.Ser336Ser synonymous ABCB5 2 82272 2.43096E-5 41136 1 NA
7-20687192-T-C p.Ile339Thr missense ABCB5 20 82242 2.43185E-4 41121 0 7.15209E-4
7-20687201-C-G p.Ala342Gly missense ABCB5 1 82190 1.21669E-5 41095 0 NA
7-20687211-C-T p.His345His synonymous ABCB5 1 82148 1.21732E-5 41074 0 6.90894E-5
7-20687212-T-C p.Phe346Leu missense ABCB5 1 82146 1.21734E-5 41073 0 4.59137E-5
7-20687215-GA-G p.Thr348fs frameshift ABCB5 1 82138 1.21746E-5 41069 0 NA
7-20687219-C-T p.Thr348Ile missense ABCB5 1 82110 1.21788E-5 41055 0 9.38289E-6
7-20687223-C-T c.-289C>T 5_prime_UTR_premature_start_codon_gain ABCB5 2 82088 2.43641E-5 41044 0 1.43864E-5
7-20687224-G-A p.Ala350Thr missense ABCB5 36 82068 4.38661E-4 41034 0 0.00130656
7-20687228-T-C p.Ile351Thr missense ABCB5 2 82056 2.43736E-5 41028 0 4.82514E-6
7-20687233-C-T p.Arg353* stop_gained ABCB5 57 82004 6.95088E-4 41002 0 0.0017526
7-20687234-G-A p.Arg353Gln missense ABCB5 2 82006 2.43885E-5 41003 0 4.96327E-6
7-20687237-G-A p.Gly354Glu missense ABCB5 1 82010 1.21936E-5 41005 0 5.1835E-5
7-20687239-G-C p.Ala355Pro missense ABCB5 4 81990 4.87864E-5 40995 0 5.03525E-4
7-20687249-A-G p.His358Arg missense ABCB5 4 81940 4.88162E-5 40970 0 4.23325E-5
7-20687249-A-T p.His358Leu missense ABCB5 1 81940 1.22041E-5 40970 0 NA
7-20687264-T-C p.Ile363Thr missense ABCB5 1 81868 1.22148E-5 40934 0 NA
7-20687590-G-C c.-240-1G>C splice_acceptor ABCB5 2 80804 2.47513E-5 40402 0 NA
7-20687597-A-T p.Ser368Cys missense ABCB5 1 81104 1.23298E-5 40552 0 NA
7-20687600-A-G p.Ile369Val missense ABCB5 534 81128 0.00658219 40564 8 0.0120685
7-20687604-A-G p.Asp370Gly missense ABCB5 8417 80832 0.10413 40416 490 0.11181
7-20687615-A-G p.Thr374Ala missense ABCB5 1 81286 1.23022E-5 40643 0 NA
7-20687623-A-G p.Gly376Gly synonymous ABCB5 1 81358 1.22914E-5 40679 0 NA
7-20687630-C-T p.Pro379Ser missense ABCB5 1 81352 1.22923E-5 40676 0 4.03982E-6
7-20687630-C-A p.Pro379Thr missense ABCB5 1 81352 1.22923E-5 40676 0 NA
7-20687632-T-A p.Pro379Pro synonymous ABCB5 3 81342 3.68813E-5 40671 1 NA
7-20687633-G-T p.Glu380* stop_gained ABCB5 1 81348 1.22929E-5 40674 0 NA
7-20687640-T-C p.Ile382Thr missense ABCB5 1 81288 1.23019E-5 40644 0 1.77148E-5
7-20687649-C-A p.Thr385Asn missense ABCB5 1 81186 1.23174E-5 40593 0 2.66947E-5
7-20687660-A-T p.Lys389* stop_gained ABCB5 3 81072 3.70041E-5 40536 0 3.1835E-5
7-20687667-T-A p.Val391Asp missense ABCB5 3 80966 3.70526E-5 40483 0 1.18937E-4
7-20687672-T-G p.Phe393Val missense ABCB5 1 80872 1.23652E-5 40436 0 NA
7-20687678-T-G p.Tyr395Asp missense ABCB5 1 80684 1.2394E-5 40342 0 NA
7-20687682-C-T p.Pro396Leu missense ABCB5 1 80536 1.24168E-5 40268 0 NA
7-20687689-A-G p.Arg398Arg synonymous ABCB5 2 80386 2.488E-5 40193 0 4.07937E-6
7-20687690-C-A p.Pro399Thr missense ABCB5 1 80342 1.24468E-5 40171 0 NA
7-20687706-G-T c.-130+5G>T splice_region ABCB5 8 79478 1.00657E-4 39739 0 4.25378E-5
7-20687706-G-A c.-130+5G>A splice_region ABCB5 1 79478 1.25821E-5 39739 0 NA
7-20689638-C-T c.-129-7C>T splice_region ABCB5 2 82556 2.4226E-5 41278 0 NA
7-20689642-T-C c.-129-3T>C splice_region ABCB5 1 82586 1.21086E-5 41293 0 2.38635E-5
7-20689649-T-G p.Leu404Arg missense ABCB5 23 82566 2.78565E-4 41283 0 5.73066E-4
7-20689651-A-G p.Lys405Glu missense ABCB5 1 82578 1.21098E-5 41289 0 2.19183E-5
7-20689655-G-T p.Gly406Val missense ABCB5 2 82588 2.42166E-5 41294 0 3.18431E-5
7-20689657-C-T c.-117C>T 5_prime_UTR_premature_start_codon_gain ABCB5 1 82588 1.21083E-5 41294 0 NA
7-20689672-A-G p.Lys412Glu missense ABCB5 30 82604 3.63179E-4 41302 0 0.004375
7-20689686-A-G p.Thr416Thr synonymous ABCB5 3 82610 3.63152E-5 41305 0 8.58811E-6
7-20689690-G-A p.Ala418Thr missense ABCB5 4 82588 4.84332E-5 41294 0 5.0997E-5
7-20689699-G-A p.Gly421Ser missense ABCB5 2 82590 2.4216E-5 41295 0 6.84292E-5
7-20689700-G-A p.Gly421Asp missense ABCB5 4 82582 4.84367E-5 41291 0 NA
7-20689719-G-A p.Lys427Lys synonymous ABCB5 3 82600 3.63196E-5 41300 0 1.28719E-4
7-20689720-A-T p.Ser428Cys missense ABCB5 1 82594 1.21074E-5 41297 0 4.02269E-6
7-20689724-C-T p.Thr429Met missense ABCB5 76 82580 9.2032E-4 41290 2 0.00302115
7-20689725-G-A p.Thr429Thr synonymous ABCB5 3 82592 3.63231E-5 41296 0 3.33328E-5
7-20689730-T-C p.Val431Ala missense ABCB5 3 82552 3.63407E-5 41276 0 2.49933E-5
7-20689734-G-A p.Gln432Gln synonymous ABCB5 124 82534 0.00150241 41267 0 0.00151057
7-20689734-G-T p.Gln432His missense ABCB5 3 82538 3.63469E-5 41269 0 1.27372E-4
7-20689740-G-T p.Leu434Leu synonymous ABCB5 1 82528 1.21171E-5 41264 0 3.18431E-5
7-20689740-G-A p.Leu434Leu synonymous ABCB5 1 82528 1.21171E-5 41264 0 4.02337E-6
7-20689744-A-C p.Arg436Arg synonymous ABCB5 2 82520 2.42365E-5 41260 0 NA
7-20689757-C-T p.Pro440Leu missense ABCB5 2 82482 2.42477E-5 41241 0 3.18532E-5
7-20689758-G-A p.Pro440Pro synonymous ABCB5 3 82472 3.6376E-5 41236 0 3.18471E-5
7-20689766-G-A p.Gly443Asp missense ABCB5 1 82386 1.2138E-5 41193 0 NA
7-20689776-T-C c.-4+6T>C splice_region ABCB5 1 82276 1.21542E-5 41138 0 NA
7-20691041-A-G c.-3-2A>G splice_acceptor ABCB5 58 82694 7.01381E-4 41347 0 5.73175E-4
7-20691047-T-C p.Met1? start_lost ABCB5 13464 81648 0.164903 40824 1035 0.186875
7-20691066-C-G p.Ile7Met missense ABCB5 3 83028 3.61324E-5 41514 0 4.73847E-4
7-20691076-A-G p.Asn11Asp missense ABCB5 1 83096 1.20343E-5 41548 0 8.24511E-6
7-20691082-C-T p.Arg13Trp missense ABCB5 15 83098 1.8051E-4 41549 0 0.00151057
7-20691083-G-A p.Arg13Gln missense ABCB5 17 83106 2.04558E-4 41553 0 4.14118E-4
7-20691091-C-T p.Arg16* stop_gained ABCB5 1 83134 1.20288E-5 41567 0 4.94633E-5
7-20691092-G-A p.Arg16Gln missense ABCB5 4 83142 4.81105E-5 41571 0 5.03525E-4
7-20691094-G-A p.Asp17Asn missense ABCB5 1 83162 1.20247E-5 41581 0 NA
7-20691095-A-C p.Asp17Ala missense ABCB5 1 83162 1.20247E-5 41581 0 NA
7-20691101-T-C p.Ile19Thr missense ABCB5 3 83180 3.60664E-5 41590 0 3.97981E-6
7-20691106-G-T p.Val21Leu missense ABCB5 1 83194 1.20201E-5 41597 0 NA
7-20691107-T-C p.Val21Ala missense ABCB5 2 83194 2.40402E-5 41597 0 3.18959E-5
7-20691121-C-G p.Pro26Ala missense ABCB5 2 83242 2.40263E-5 41621 0 5.76891E-5
7-20691122-C-T p.Pro26Leu missense ABCB5 3 83248 3.60369E-5 41624 0 6.25E-4
7-20691132-C-T p.Phe29Phe synonymous ABCB5 1 83264 1.201E-5 41632 0 1.98926E-5
7-20691133-G-A p.Gly30Arg missense ABCB5 3 83272 3.60265E-5 41636 0 3.29625E-5
7-20691134-G-C p.Gly30Ala missense ABCB5 1 83272 1.20088E-5 41636 0 NA
7-20691147-T-G p.Ser34Arg missense ABCB5 1 83278 1.2008E-5 41639 0 NA
7-20691160-T-C p.Tyr39His missense ABCB5 1 83272 1.20088E-5 41636 0 NA
7-20691167-G-A p.Arg41Gln missense ABCB5 176 83260 0.00211386 41630 1 0.00230707
7-20691172-G-T p.Asp43Tyr missense ABCB5 2 83252 2.40234E-5 41626 0 NA
7-20691184-G-A p.Glu47Lys missense ABCB5 3 83238 3.60412E-5 41619 0 1.27437E-4
7-20691204-A-G p.Ala53Ala synonymous ABCB5 4 83112 4.81278E-5 41556 0 0.0020141
7-20691212-C-A p.Ala56Glu missense ABCB5 1 83056 1.20401E-5 41528 0 NA
7-20691217-G-A p.Ala58Thr missense ABCB5 2 83000 2.40964E-5 41500 0 9.55292E-5
7-20691218-C-T p.Ala58Val missense ABCB5 1 82966 1.20531E-5 41483 0 8.24402E-5
7-20691219-G-A p.Ala58Ala synonymous ABCB5 8865 82584 0.107345 41292 482 0.105391
7-20691220-T-G p.Tyr59Asp missense ABCB5 2 82952 2.41103E-5 41476 0 NA
7-20691229-A-AGGGTTTT p.Ile62fs frameshift ABCB5 1 82840 1.20715E-5 41420 0 NA
7-20691229-ATCAT-A p.Ile62fs frameshift ABCB5 1 82844 1.20709E-5 41422 0 NA
7-20691241-C-CATA p.Pro66delinsHisThr disruptive_inframe_insertion ABCB5 1 82540 1.21153E-5 41270 0 NA
7-20691244-A-AG p.Asn67fs frameshift ABCB5 1 82446 1.21292E-5 41223 0 NA
7-20691246-T-C p.Asn67Asn splice_region+synonymous ABCB5 62 82408 7.52354E-4 41204 0 0.00127413
7-20691251-G-A c.201+5G>A splice_region ABCB5 1 82270 1.21551E-5 41135 0 NA
7-20691251-G-T c.201+5G>T splice_region ABCB5 1 82270 1.21551E-5 41135 0 8.27198E-6
7-20698124-A-G c.202-5A>G splice_region ABCB5 3 82714 3.62696E-5 41357 0 1.27624E-4
7-20698124-A-T c.202-5A>T splice_region ABCB5 2 82714 2.41797E-5 41357 0 NA
7-20698141-T-C p.Leu72Leu synonymous ABCB5 2 82896 2.41266E-5 41448 0 3.18634E-5
7-20698156-G-A p.Gly77Arg missense ABCB5 49 82928 5.90874E-4 41464 0 3.42711E-4
7-20698164-A-C p.Gln79His missense ABCB5 9 82960 1.08486E-4 41480 0 6.25E-4
7-20698165-A-G p.Met80Val missense ABCB5 2 82970 2.41051E-5 41485 0 NA
7-20698170-T-G p.Ser81Arg missense ABCB5 16 82970 1.92841E-4 41485 0 3.18695E-4
7-20698191-C-T p.Ile88Ile synonymous ABCB5 18 83010 2.16841E-4 41505 0 3.82458E-4
7-20698192-G-A p.Ala89Thr missense ABCB5 2 83006 2.40946E-5 41503 0 3.18776E-5
7-20698202-G-T p.Arg92Leu missense ABCB5 1 83088 1.20354E-5 41544 0 9.56023E-5
7-20698205-C-T p.Ala93Val missense ABCB5 3 83092 3.61046E-5 41546 0 1.64791E-5
7-20698208-T-G p.Leu94* stop_gained ABCB5 1 83104 1.20331E-5 41552 0 NA
7-20698217-A-T p.Asn97Ile missense ABCB5 1 83128 1.20296E-5 41564 0 2.47178E-5
7-20698221-CA-C p.Lys99fs frameshift ABCB5 60 83142 7.21657E-4 41571 0 0.00197603
7-20698223-A-G p.Lys99Arg missense ABCB5 1 83146 1.2027E-5 41573 0 NA
7-20698238-A-G p.Asp104Gly missense ABCB5 4 83186 4.8085E-5 41593 0 0.00125
7-20698247-C-T p.Thr107Met missense ABCB5 2 83172 2.40466E-5 41586 0 7.1611E-5
7-20698248-G-A p.Thr107Thr synonymous ABCB5 7 83172 8.41629E-5 41586 0 6.25E-4
7-20698251-T-G p.Ser108Ser synonymous ABCB5 110 83182 0.0013224 41591 0 0.00277017
7-20698257-G-A p.Leu110Leu synonymous ABCB5 1 83180 1.20221E-5 41590 0 8.239E-6
7-20698269-CA-TG p.SerLys114SerGlu missense ABCB5 1 83166 1.20241E-5 41583 0 NA
7-20698270-A-G p.Lys115Glu missense ABCB5 28465 82614 0.344554 41307 5199 0.395308
7-20698284-A-G p.Gln119Gln synonymous ABCB5 1 83150 1.20265E-5 41575 0 3.98016E-6
7-20698286-C-T p.Ala120Val missense ABCB5 2 83146 2.40541E-5 41573 0 1.19428E-5
7-20698288-G-A p.Ala121Thr missense ABCB5 2 83126 2.40599E-5 41563 0 8.25001E-6
7-20698291-C-A p.Leu122Met missense ABCB5 1 83132 1.20291E-5 41566 0 NA
7-20698291-C-G p.Leu122Val missense ABCB5 1 83132 1.20291E-5 41566 0 NA
7-20698294-G-C p.Glu123Gln missense ABCB5 1 83122 1.20305E-5 41561 0 NA
7-20698299-G-A p.Lys124Lys splice_region+synonymous ABCB5 3 83096 3.61028E-5 41548 0 NA
7-20698683-C-A c.373-6C>A splice_region ABCB5 1 82424 1.21324E-5 41212 0 NA
7-20698684-T-C c.373-5T>C splice_region ABCB5 1 82420 1.2133E-5 41210 0 NA
7-20698688-G-A c.373-1G>A splice_acceptor ABCB5 2 82414 2.42677E-5 41207 0 8.31366E-6
7-20698693-C-T p.Thr126Ile missense ABCB5 45 82448 5.45799E-4 41224 0 0.00106161
7-20698697-C-A p.Pro127Pro synonymous ABCB5 50 82466 6.0631E-4 41233 0 0.00172029
7-20698700-G-A p.Arg128Arg synonymous ABCB5 1 82484 1.21236E-5 41242 0 4.98811E-5
7-20698706-A-G p.Ser130Ser synonymous ABCB5 1 82482 1.21239E-5 41241 0 NA
7-20706379-T-C c.373-3T>C splice_region ABCB5 1 81958 1.22014E-5 40979 0 NA
7-20706389-A-G p.Ter127Ter stop_retained ABCB5 2 82052 2.43748E-5 41026 0 1.80054E-5
7-20706389-A-T p.Ter127Leuext*? stop_lost ABCB5 1 82052 1.21874E-5 41026 0 3.1837E-5
7-20706390-A-G p.Ter127Ter stop_retained ABCB5 358 82052 0.00436309 41026 7 0.0102522
7-20721125-T-C c.373-3T>C splice_region ABCB5 4 83408 4.7957E-5 41704 0 3.58406E-5
7-20721129-C-T p.Ala125Val missense+splice_region ABCB5 3 83408 3.59678E-5 41704 0 3.18552E-5
7-20721129-C-A p.Ala125Glu missense+splice_region ABCB5 1 83408 1.19893E-5 41704 0 NA
7-20721130-G-A p.Ala125Ala splice_region+synonymous ABCB5 91 83406 0.00109105 41703 0 9.87198E-4
7-20721141-G-A p.Arg129Gln missense ABCB5 27 83410 3.23702E-4 41705 0 0.00352467
7-20721149-A-T p.Ile132Phe missense ABCB5 1 83420 1.19875E-5 41710 0 1.67054E-4
7-20721151-C-T p.Ile132Ile synonymous ABCB5 6 83416 7.19286E-5 41708 0 2.22902E-4
7-20721152-G-A p.Val133Met missense ABCB5 143 83414 0.00171434 41707 0 0.00347112
7-20721161-C-T p.His136Tyr missense ABCB5 1 83418 1.19878E-5 41709 0 3.97703E-6
7-20721164-C-G p.Arg137Gly missense ABCB5 1 83418 1.19878E-5 41709 0 NA
7-20721165-G-A p.Arg137Gln missense ABCB5 21 83418 2.51744E-4 41709 0 5.41367E-4
7-20721179-C-T p.Arg142* stop_gained ABCB5 2 83414 2.39768E-5 41707 0 3.29544E-5
7-20721180-G-A p.Arg142Gln missense ABCB5 6 83414 7.19304E-5 41707 0 2.38595E-5
7-20721192-T-A p.Leu146* stop_gained ABCB5 1 83408 1.19893E-5 41704 0 5.56687E-5
7-20721200-A-T p.Thr149Ser missense ABCB5 5 83412 5.99434E-5 41706 0 3.18104E-5
7-20721201-C-T p.Thr149Ile missense ABCB5 7 83408 8.39248E-5 41704 0 4.94283E-5
7-20721202-C-T p.Thr149Thr synonymous ABCB5 7 83408 8.39248E-5 41704 1 1.9118E-4
7-20721205-A-G p.Leu150Leu synonymous ABCB5 1 83406 1.19895E-5 41703 0 3.97636E-6
7-20721217-G-C p.Met154Ile missense ABCB5 1 83402 1.19901E-5 41701 0 3.97636E-6
7-20721222-C-T p.Ala156Val missense ABCB5 5 83398 5.99535E-5 41699 0 6.36862E-5
7-20721223-G-A p.Ala156Ala synonymous ABCB5 258 83394 0.00309375 41697 3 0.00640046
7-20721249-T-C p.Met165Thr missense ABCB5 4 83396 4.79639E-5 41698 0 5.03525E-4
7-20721251-G-A p.Ala166Thr missense ABCB5 2 83394 2.39825E-5 41697 0 NA
7-20721257-C-T p.Arg168* stop_gained ABCB5 6 83392 7.19493E-5 41696 0 3.18695E-5
7-20721260-G-C p.Gly169Arg missense ABCB5 132 83380 0.00158311 41690 1 0.00151057
7-20721265-A-G p.Leu170Leu synonymous ABCB5 2 83386 2.39848E-5 41693 0 8.24348E-6
7-20721267-A-G p.Tyr171Cys missense ABCB5 4 83388 4.79685E-5 41694 0 2.55561E-4
7-20721270-A-G p.Tyr172Cys missense ABCB5 8 83392 9.59325E-5 41696 0 0.001875
7-20721277-T-C p.Leu174Leu synonymous ABCB5 1 83388 1.19921E-5 41694 0 NA
7-20721283-G-A p.Met176Ile missense ABCB5 3 83372 3.59833E-5 41686 0 8.25437E-6
7-20721294-T-C c.534+5T>C splice_region ABCB5 1 83362 1.19959E-5 41681 0 8.26993E-6
7-20725319-G-T p.Asp179Tyr missense+splice_region ABCB5 3 82906 3.61856E-5 41453 0 7.66492E-5
7-20725325-A-T p.Lys181* stop_gained ABCB5 255 82936 0.00307466 41468 3 0.00671932
7-20725331-G-A p.Ala183Thr missense ABCB5 2 82978 2.41028E-5 41489 0 4.05259E-6
7-20725348-G-C p.Glu188Asp missense ABCB5 3 83056 3.61202E-5 41528 0 1.66113E-5
7-20725356-CAT-C p.Tyr192fs frameshift ABCB5 1 83088 1.20354E-5 41544 0 NA
7-20725361-T-C p.Ser193Pro missense ABCB5 1 83088 1.20354E-5 41544 0 6.37064E-5
7-20725366-T-G p.Thr194Thr synonymous ABCB5 153 83098 0.0018412 41549 1 0.00426888
7-20725377-C-T p.Thr198Ile missense ABCB5 1 83120 1.20308E-5 41560 0 NA
7-20725382-T-C p.Ser200Pro missense ABCB5 1 83142 1.20276E-5 41571 0 NA
7-20725388-C-T p.Pro202Ser missense ABCB5 1 83160 1.2025E-5 41580 0 NA
7-20725393-G-A p.Leu203Leu synonymous ABCB5 28 83152 3.36733E-4 41576 0 0.00302419
7-20725399-T-C p.Ser205Ser synonymous ABCB5 38 83150 4.57005E-4 41575 2 6.25E-4
7-20725407-G-A p.Ser208Asn missense ABCB5 2 83162 2.40494E-5 41581 0 3.1841E-5
7-20725410-T-C p.Ile209Thr missense ABCB5 1 83166 1.20241E-5 41583 0 NA
7-20725436-G-A p.Glu218Lys missense ABCB5 1 83138 1.20282E-5 41569 0 8.28212E-6
7-20725449-A-T p.Gln222Leu missense ABCB5 4 82910 4.82451E-5 41455 0 NA
7-20725450-A-G p.Gln222Gln synonymous ABCB5 2 82896 2.41266E-5 41448 0 NA
7-20725463-A-G c.675+4A>G splice_region ABCB5 2 82688 2.41873E-5 41344 0 NA
7-20725464-T-C c.675+5T>C splice_region ABCB5 1 82674 1.20957E-5 41337 0 1.79279E-5
7-20738030-A-G p.Ile226Val missense+splice_region ABCB5 1 82266 1.21557E-5 41133 0 9.40787E-6
7-20738045-G-A p.Val231Ile missense ABCB5 5 82672 6.048E-5 41336 0 5.03525E-4
7-20738045-GTCTC-G p.Ser232fs frameshift ABCB5 1 82672 1.2096E-5 41336 0 NA
7-20738055-T-C p.Leu234Ser missense ABCB5 1 82842 1.20712E-5 41421 0 NA
7-20738061-T-C p.Ile236Thr missense ABCB5 1 82868 1.20674E-5 41434 0 8.33153E-6
7-20738069-T-G p.Leu239Val missense ABCB5 1 82870 1.20671E-5 41435 0 NA
7-20738078-C-T p.Pro242Ser missense ABCB5 3 82938 3.61716E-5 41469 0 4.2198E-6
7-20738088-C-G p.Pro245Arg missense ABCB5 1 82946 1.2056E-5 41473 0 3.18532E-5
7-20738095-G-A p.Val247Val synonymous ABCB5 1 82988 1.20499E-5 41494 0 5.81772E-5
7-20738102-G-C p.Gly250Arg missense ABCB5 1 83106 1.20328E-5 41553 0 1.66423E-5
7-20738104-G-A p.Gly250Gly synonymous ABCB5 1 83082 1.20363E-5 41541 0 4.12456E-6
7-20738130-C-T p.Thr259Ile missense ABCB5 1 83122 1.20305E-5 41561 0 3.18471E-5
7-20738131-T-C p.Thr259Thr synonymous ABCB5 4 83094 4.81383E-5 41547 0 NA
7-20738134-T-C p.Val260Val synonymous ABCB5 1 83058 1.20398E-5 41529 0 2.53507E-5
7-20738141-G-A p.Val263Ile missense ABCB5 13 83010 1.56608E-4 41505 0 1.2789E-4
7-20738158-T-C p.Phe268Phe synonymous ABCB5 1 82994 1.20491E-5 41497 0 5.03525E-4
7-20738168-A-G p.Ile272Val missense ABCB5 1 82966 1.20531E-5 41483 0 6.3678E-5
7-20738173-C-T p.Thr273Thr splice_region+synonymous ABCB5 2 82882 2.41307E-5 41441 0 8.93663E-6
7-20738174-G-A c.819+1G>A splice_donor ABCB5 8 82874 9.65321E-5 41437 0 1.2738E-4
7-20739443-T-C c.820-5T>C splice_region ABCB5 1 82570 1.21109E-5 41285 0 6.25E-4
7-20739465-T-C p.Asp279Asp synonymous ABCB5 1126 82870 0.0135875 41435 10 0.0127006
7-20739493-A-G p.Ile289Val missense ABCB5 1 83074 1.20375E-5 41537 0 2.39569E-5
7-20739498-T-C p.Tyr290Tyr synonymous ABCB5 1 83064 1.20389E-5 41532 0 NA
7-20739510-C-T p.Phe294Phe synonymous ABCB5 5 83094 6.01728E-5 41547 0 6.3743E-5
7-20739514-A-G p.Ile296Val missense ABCB5 1 83106 1.20328E-5 41553 0 NA
7-20739527-T-C p.Ile300Thr missense ABCB5 1 83094 1.20346E-5 41547 0 NA
7-20739530-G-T p.Cys301Phe missense ABCB5 1 83082 1.20363E-5 41541 0 NA
7-20739531-CT-C p.Phe302fs frameshift ABCB5 6 83074 7.22248E-5 41537 0 6.3743E-5
7-20739535-G-C p.Val303Leu missense ABCB5 2 83066 2.40772E-5 41533 0 NA
7-20739680-G-A c.925-1G>A splice_acceptor ABCB5 2 83258 2.40217E-5 41629 0 NA
7-20739692-C-T p.Tyr312Tyr synonymous ABCB5 1 83254 1.20114E-5 41627 0 3.30071E-5
7-20739693-G-A p.Gly313Ser missense ABCB5 3 83254 3.60343E-5 41627 0 1.15531E-4
7-20739697-G-C p.Arg314Thr missense ABCB5 4 83254 4.80457E-5 41627 0 2.38774E-5
7-20739698-A-G p.Arg314Arg synonymous ABCB5 1 83254 1.20114E-5 41627 0 1.19393E-5
7-20739702-G-C p.Gly316Arg missense ABCB5 1 83252 1.20117E-5 41626 0 NA
7-20739704-G-A p.Gly316Gly synonymous ABCB5 1 83256 1.20111E-5 41628 0 9.55962E-5
7-20739715-C-T p.Thr320Met missense ABCB5 33 83240 3.96444E-4 41620 1 6.37389E-4
7-20739715-C-A p.Thr320Lys missense ABCB5 2 83240 2.40269E-5 41620 0 9.56084E-5
7-20739715-C-G p.Thr320Arg missense ABCB5 1 83240 1.20135E-5 41620 0 3.97969E-6
7-20739718-T-C p.Met321Thr missense ABCB5 4 83240 4.80538E-5 41620 0 3.18573E-4
7-20739731-C-G p.His325Gln missense ABCB5 1 83174 1.2023E-5 41587 0 8.25123E-6
7-20739735-G-C p.Ala327Pro missense ABCB5 1 83166 1.20241E-5 41583 0 1.19505E-5
7-20739735-G-A p.Ala327Thr missense ABCB5 3 83166 3.60724E-5 41583 0 NA
7-20739744-GC-G p.Met331fs frameshift ABCB5 1 83124 1.20302E-5 41562 0 NA
7-20739744-G-C p.Ala330Pro missense ABCB5 1 83124 1.20302E-5 41562 0 NA
7-20739747-A-G p.Met331Val missense ABCB5 1 83092 1.20349E-5 41546 0 3.19163E-5
7-20739752-A-G p.Leu332Leu synonymous ABCB5 1 83054 1.20404E-5 41527 0 3.2041E-5
7-20739763-G-A c.1002+5G>A splice_region ABCB5 1 82774 1.20811E-5 41387 0 3.74308E-5
7-20744355-C-T p.Ala337Ala synonymous ABCB5 6 82664 7.2583E-5 41332 0 3.18512E-5
7-20744358-G-T p.Trp338Cys missense ABCB5 1 82662 1.20975E-5 41331 0 NA
7-20744360-T-G p.Phe339Cys missense ABCB5 87 82686 0.00105217 41343 0 0.00245207
7-20744364-T-C p.Asp340Asp synonymous ABCB5 1 82668 1.20966E-5 41334 0 NA
7-20744368-A-G p.Lys342Glu missense ABCB5 2 82694 2.41856E-5 41347 0 1.59241E-5
7-20744384-G-C p.Gly347Ala missense ABCB5 1 82706 1.2091E-5 41353 0 NA
7-20744387-G-T p.Gly348Val missense ABCB5 4 82700 4.83676E-5 41350 0 3.30006E-5
7-20744389-T-C p.Leu349Leu synonymous ABCB5 7 82702 8.46412E-5 41351 0 6.36821E-5
7-20744398-A-G p.Ile352Val missense ABCB5 1 82682 1.20945E-5 41341 0 3.1841E-5
7-20744402-T-C p.Leu353Ser missense ABCB5 1 82690 1.20934E-5 41345 0 8.25682E-6
7-20744410-G-C p.Asp356His missense ABCB5 1 82594 1.21074E-5 41297 0 NA
7-20744414-T-C p.Ile357Thr missense ABCB5 1 82516 1.21189E-5 41258 0 NA
7-20744420-A-T p.Gln359Leu missense ABCB5 1 82470 1.21256E-5 41235 0 NA
7-20744435-G-A c.1086+5G>A splice_region ABCB5 1 82118 1.21776E-5 41059 0 3.99307E-6
7-20762639-G-C p.Ala363Pro missense+splice_region ABCB5 2 82748 2.41698E-5 41374 0 1.59342E-5
7-20762646-G-T p.Gly365Val missense ABCB5 25137 80096 0.313836 40048 3889 0.350625
7-20762646-GTT-TTG p.GlySer365ValAla missense ABCB5 12 82716 1.45075E-4 41358 0 NA
7-20762646-G-A p.Gly365Asp missense ABCB5 9 82716 1.08806E-4 41358 0 1.48297E-4
7-20762648-T-G p.Ser366Ala missense ABCB5 7 82684 8.46597E-5 41342 0 1.4332E-4
7-20762659-C-T p.Gly369Gly synonymous ABCB5 13 82708 1.57179E-4 41354 0 0.00100806
7-20762660-G-A p.Val370Ile missense ABCB5 8 82748 9.66791E-5 41374 0 4.11848E-5
7-20762661-T-A p.Val370Asp missense ABCB5 1 82776 1.20808E-5 41388 0 NA
7-20762670-A-T p.Gln373Leu missense ABCB5 1 82830 1.20729E-5 41415 0 3.97918E-6
7-20762673-A-G p.Asn374Ser missense ABCB5 1 82846 1.20706E-5 41423 0 NA
7-20762684-A-G p.Met378Val missense ABCB5 1 82908 1.20616E-5 41454 0 8.23683E-6
7-20762688-G-A p.Gly379Glu missense ABCB5 2 82926 2.41179E-5 41463 0 NA
7-20762692-T-A p.Leu380Leu synonymous ABCB5 1 82926 1.20589E-5 41463 0 NA
7-20762693-T-A p.Ser381Thr missense ABCB5 1 82940 1.20569E-5 41470 0 NA
7-20762693-T-C p.Ser381Pro missense ABCB5 1 82940 1.20569E-5 41470 0 7.95646E-6
7-20762698-T-A p.Val382Val synonymous ABCB5 1 82980 1.20511E-5 41490 0 NA
7-20762712-T-C p.Ile387Thr missense ABCB5 1 83106 1.20328E-5 41553 0 3.18492E-5
7-20762748-T-G p.Ile399Ser missense ABCB5 1 83290 1.20062E-5 41645 0 3.97716E-6
7-20762764-C-T p.Ala404Ala synonymous ABCB5 1 83302 1.20045E-5 41651 0 2.47133E-5
7-20762765-G-A p.Val405Met missense ABCB5 11 83302 1.3205E-4 41651 0 0.001875
7-20762772-G-A p.Gly407Glu missense ABCB5 1 83318 1.20022E-5 41659 0 NA
7-20762782-A-T p.Glu410Asp missense ABCB5 1 83312 1.20031E-5 41656 0 3.1841E-5
7-20762785-C-T p.Thr411Thr synonymous ABCB5 1 83302 1.20045E-5 41651 0 4.12018E-5
7-20762786-G-A p.Ala412Thr missense ABCB5 12 83300 1.44058E-4 41650 0 3.4604E-4
7-20762799-G-C p.Gly416Ala missense ABCB5 2 83294 2.40113E-5 41647 0 2.38643E-5
7-20762808-A-G p.Asn419Ser missense ABCB5 11 83264 1.3211E-4 41632 0 7.55768E-5
7-20762809-C-A p.Asn419Lys missense ABCB5 51 83266 6.12495E-4 41633 0 0.00151057
7-20762819-C-A p.Gln423Lys missense ABCB5 2 83214 2.40344E-5 41607 0 3.97883E-6
7-20762826-T-A p.Leu425His missense ABCB5 13 83156 1.56333E-4 41578 0 1.51228E-4
7-20762831-C-G p.His427Asp missense ABCB5 2 83122 2.4061E-5 41561 0 NA
7-20762834-G-A p.Ala428Thr missense ABCB5 4 83092 4.81394E-5 41546 0 1.99065E-5
7-20762849-T-C c.1290+7T>C splice_region ABCB5 1 83006 1.20473E-5 41503 0 NA
7-20766674-A-C p.Glu434Asp missense ABCB5 1 82580 1.21095E-5 41290 0 NA
7-20766674-A-G p.Glu434Glu synonymous ABCB5 3 82578 3.63293E-5 41289 0 6.25E-4
7-20766690-C-T p.Arg440Cys missense ABCB5 9 82686 1.08846E-4 41343 0 4.79191E-5
7-20766691-G-A p.Arg440His missense ABCB5 9 82696 1.08832E-4 41348 0 5.05051E-4
7-20766691-G-C p.Arg440Pro missense ABCB5 19 82696 2.29757E-4 41348 0 5.73175E-4
7-20766694-C-G p.Thr441Ser missense ABCB5 2 82724 2.41768E-5 41362 0 3.18431E-5
7-20766696-A-G p.Ile442Val missense ABCB5 2 82716 2.41791E-5 41358 0 7.96743E-6
7-20766699-G-C p.Val443Leu missense ABCB5 1 82712 1.20901E-5 41356 0 NA
7-20766700-T-C p.Val443Ala missense ABCB5 1 82712 1.20901E-5 41356 0 6.36659E-5
7-20766703-C-T p.Ser444Leu missense ABCB5 3 82700 3.62757E-5 41350 0 7.96787E-6
7-20766709-C-A p.Thr446Lys missense ABCB5 1 82658 1.2098E-5 41329 0 NA
7-20766720-G-T p.Ala450Ser missense ABCB5 1 82590 1.2108E-5 41295 0 8.2861E-6
7-20766722-C-T p.Ala450Ala synonymous ABCB5 1 82598 1.21068E-5 41299 0 NA
7-20766726-G-A p.Glu452Lys missense ABCB5 1 82538 1.21156E-5 41269 0 8.29325E-6
7-20766727-A-G p.Glu452Gly missense ABCB5 2 82538 2.42313E-5 41269 0 3.1839E-5
7-20766730-A-C p.Gln453Pro missense ABCB5 1 82470 1.21256E-5 41235 0 NA
7-20766740-A-G p.Glu456Glu synonymous ABCB5 2 82316 2.42966E-5 41158 0 1.66207E-5
7-20766745-T-A p.Met458Lys missense ABCB5 2 82184 2.43356E-5 41092 0 8.32044E-6
7-20766747-C-T p.Leu459Phe missense ABCB5 2 82058 2.4373E-5 41029 0 NA
7-20766752-G-T p.Gln460His missense ABCB5 699 81900 0.0085348 40950 28 0.018121
7-20766752-G-C p.Gln460His missense ABCB5 1 81948 1.22029E-5 40974 0 NA
7-20766766-G-A c.1391+3G>A splice_region ABCB5 4 81288 4.92078E-5 40644 0 2.51999E-5
7-20767947-G-A p.Ser467Ser synonymous ABCB5 1 83068 1.20383E-5 41534 0 3.29935E-5
7-20767954-G-A p.Ala470Thr missense ABCB5 3077 83054 0.0370482 41527 180 0.0630855
7-20767957-C-T p.Gln471* stop_gained ABCB5 1 83144 1.20273E-5 41572 0 NA
7-20767959-G-T p.Gln471His missense ABCB5 2 83158 2.40506E-5 41579 0 3.1841E-5
7-20767961-T-C p.Ile472Thr missense ABCB5 2 83158 2.40506E-5 41579 0 3.97956E-6
7-20767971-C-T p.Ser475Ser synonymous ABCB5 2 83206 2.40367E-5 41603 0 1.27335E-4
7-20767973-G-C p.Cys476Ser missense ABCB5 3 83208 3.60542E-5 41604 0 8.2409E-6
7-20767977-T-G p.Tyr477* stop_gained ABCB5 1 83226 1.20155E-5 41613 0 NA
7-20767981-T-C p.Phe479Leu missense ABCB5 967 83236 0.0116176 41618 11 0.0140987
7-20767981-T-G p.Phe479Val missense ABCB5 1 83252 1.20117E-5 41626 0 NA
7-20767987-C-CATTTAT p.His481_Ala482insLeuTyr conservative_inframe_insertion ABCB5 2 83268 2.40188E-5 41634 0 7.95577E-6
7-20768007-C-G p.Ala487Ala synonymous ABCB5 7 83308 8.40255E-5 41654 0 3.18431E-5
7-20768009-A-T p.Tyr488Phe missense ABCB5 1 83312 1.20031E-5 41656 0 NA
7-20768012-C-T p.Ala489Val missense ABCB5 2 83310 2.40067E-5 41655 0 3.18431E-5
7-20768013-G-A p.Ala489Ala synonymous ABCB5 39524 83000 0.476193 41500 9901 0.552365
7-20768023-C-T p.Arg493* stop_gained ABCB5 4 83314 4.80111E-5 41657 0 6.36659E-5
7-20768024-G-A p.Arg493Gln missense ABCB5 2 83316 2.4005E-5 41658 0 1.64872E-5
7-20768024-G-C p.Arg493Pro missense ABCB5 2 83316 2.4005E-5 41658 0 NA
7-20768030-G-C p.Gly495Ala missense ABCB5 1 83320 1.20019E-5 41660 0 NA
7-20768033-C-A p.Ala496Asp missense ABCB5 8 83312 9.60246E-5 41656 0 4.77555E-4
7-20768044-C-G p.Gln500Glu missense ABCB5 3 83308 3.60109E-5 41654 0 NA
7-20768048-C-T p.Ala501Val missense ABCB5 1 83298 1.20051E-5 41649 0 NA
7-20768053-C-T p.Arg503* stop_gained ABCB5 1 83294 1.20057E-5 41647 0 3.18593E-5
7-20768054-G-A p.Arg503Gln missense ABCB5 1 83286 1.20068E-5 41643 0 1.1942E-5
7-20768061-C-T p.Thr505Thr synonymous ABCB5 1 83272 1.20088E-5 41636 0 3.1837E-5
7-20768077-A-T p.Ile511Leu missense+splice_region ABCB5 2836 83110 0.0341235 41555 62 0.0468278
7-20768078-T-C p.Ile511Thr missense+splice_region ABCB5 4 83210 4.80711E-5 41605 0 7.97499E-6
7-20768085-C-T c.1532+7C>T splice_region ABCB5 2 83154 2.40518E-5 41577 0 1.27405E-4
7-20768086-G-A c.1532+8G>A splice_region ABCB5 3 83144 3.6082E-5 41572 0 0.00105089
7-20768086-G-C c.1532+8G>C splice_region ABCB5 1 83146 1.2027E-5 41573 0 NA
7-20778600-T-C c.1533-6T>C splice_region ABCB5 2 82996 2.40975E-5 41498 0 9.54988E-5
7-20778603-TAG-T c.1533-2_1533-1delAG splice_acceptor ABCB5 2 83036 2.40859E-5 41518 0 9.55049E-5
7-20778608-T-C p.Val512Ala missense+splice_region ABCB5 5 83092 6.01743E-5 41546 0 3.62437E-5
7-20778610-T-C p.Phe513Leu missense ABCB5 1 83128 1.20296E-5 41564 0 NA
7-20778615-T-C p.Thr514Thr synonymous ABCB5 1 83164 1.20244E-5 41582 0 NA
7-20778620-T-A p.Ile516Asn missense ABCB5 2 83172 2.40466E-5 41586 0 NA
7-20778620-T-C p.Ile516Thr missense ABCB5 1 83172 1.20233E-5 41586 0 3.1837E-5
7-20778623-C-T p.Ala517Val missense ABCB5 2 83212 2.4035E-5 41606 0 3.1841E-5
7-20778624-A-G p.Ala517Ala synonymous ABCB5 1 83206 1.20184E-5 41603 0 8.69233E-6
7-20778642-C-T p.Ile523Ile synonymous ABCB5 1 83274 1.20085E-5 41637 0 3.41962E-5
7-20778643-G-A p.Gly524Arg missense ABCB5 1 83272 1.20088E-5 41636 0 0.0015121
7-20778646-G-A p.Glu525Lys missense ABCB5 66786 83036 0.804302 41518 27008 0.836875
7-20778651-G-A p.Thr526Thr synonymous ABCB5 1 83294 1.20057E-5 41647 0 1.70544E-5
7-20778652-C-T p.Leu527Phe missense ABCB5 1 83298 1.20051E-5 41649 0 NA
7-20778654-C-T p.Leu527Leu synonymous ABCB5 1 83298 1.20051E-5 41649 0 6.36821E-5
7-20778655-G-A p.Val528Ile missense ABCB5 22 83292 2.64131E-4 41646 0 1.53002E-4
7-20778661-G-A p.Ala530Thr missense ABCB5 2 83288 2.40131E-5 41644 0 2.41284E-5
7-20778662-C-T p.Ala530Val missense ABCB5 1 83298 1.20051E-5 41649 0 NA
7-20778664-C-G p.Pro531Ala missense ABCB5 1 83298 1.20051E-5 41649 0 8.58472E-6
7-20778670-T-A p.Tyr533Asn missense ABCB5 1 83306 1.20039E-5 41653 0 0.00100705
7-20778672-T-C p.Tyr533Tyr synonymous ABCB5 1 83298 1.20051E-5 41649 0 NA
7-20778687-G-A p.Ser538Ser synonymous ABCB5 1 83288 1.20065E-5 41644 0 1.20706E-5
7-20778687-G-C p.Ser538Ser synonymous ABCB5 2 83288 2.40131E-5 41644 0 NA
7-20778691-G-C p.Ala540Pro missense ABCB5 1 83276 1.20083E-5 41638 0 1.78018E-5
7-20778695-C-T p.Ala541Val missense ABCB5 2 83266 2.40194E-5 41633 0 8.4782E-5
7-20778696-G-A p.Ala541Ala synonymous ABCB5 1 83262 1.20103E-5 41631 0 9.03196E-6
7-20778706-G-C p.Ala545Pro missense ABCB5 1 83248 1.20123E-5 41624 0 NA
7-20778712-T-A p.Leu547Met missense ABCB5 2 83224 2.40315E-5 41612 0 NA
7-20778715-G-A p.Glu548Lys missense ABCB5 3 83208 3.60542E-5 41604 0 4.0789E-6
7-20778733-G-A p.Asp554Asn missense ABCB5 85 83146 0.0010223 41573 0 0.00156051
7-20778735-C-T p.Asp554Asp synonymous ABCB5 1 83136 1.20285E-5 41568 0 3.18492E-5
7-20778735-C-G p.Asp554Glu missense ABCB5 1 83136 1.20285E-5 41568 0 4.16809E-6
7-20778737-G-C p.Ser555Thr missense ABCB5 11 83108 1.32358E-4 41554 0 1.91046E-4
7-20778738-C-T p.Ser555Ser synonymous ABCB5 2 83110 2.40645E-5 41555 0 3.18451E-5
7-20778740-G-A p.Arg556His missense ABCB5 2 83078 2.40738E-5 41539 0 2.01548E-5
7-20778745-C-T p.Gln558* stop_gained ABCB5 8 83054 9.63229E-5 41527 0 1.27575E-4
7-20778747-A-G p.Gln558Gln synonymous ABCB5 128 83026 0.00154169 41513 2 0.00302529
7-20778749-A-G p.Glu559Gly missense ABCB5 1 83006 1.20473E-5 41503 0 NA
7-20778760-C-G p.Pro563Ala missense+splice_region ABCB5 2 82904 2.41243E-5 41452 0 0.00125156
7-20778760-C-T p.Pro563Ser missense+splice_region ABCB5 1 82904 1.20621E-5 41452 0 3.18532E-5
7-20778764-T-C c.1689+2T>C splice_donor ABCB5 1 82838 1.20718E-5 41419 0 3.1837E-5
7-20782502-C-T p.Asp564Asp splice_region+synonymous ABCB5 2 83188 2.40419E-5 41594 0 9.11381E-5
7-20782516-AT-A p.Leu570fs frameshift ABCB5 2 83248 2.40246E-5 41624 0 1.35232E-4
7-20782527-C-T p.Arg573* stop_gained ABCB5 5 83272 6.00442E-5 41636 0 1.27364E-4
7-20782528-G-A p.Arg573Gln missense ABCB5 1 83280 1.20077E-5 41640 0 3.1839E-5
7-20782529-A-T p.Arg573Arg synonymous ABCB5 2 83280 2.40154E-5 41640 0 3.1841E-5
7-20782535-C-G p.Val575Val synonymous ABCB5 4 83316 4.801E-5 41658 0 4.77205E-5
7-20782539-T-G p.Phe577Val missense ABCB5 1 83316 1.20025E-5 41658 0 NA
7-20782542-T-C p.Phe578Leu missense ABCB5 11 83322 1.32018E-4 41661 0 2.22902E-4
7-20782547-T-C p.Tyr579Tyr synonymous ABCB5 1 83330 1.20005E-5 41665 0 1.64802E-5
7-20782548-C-T p.Pro580Ser missense ABCB5 2 83332 2.40004E-5 41666 0 NA
7-20782555-G-A p.Arg582His missense ABCB5 1 83332 1.20002E-5 41666 0 6.37024E-5
7-20782561-A-T p.Asp584Val missense ABCB5 1 83356 1.19967E-5 41678 0 NA
7-20782567-T-C p.Phe586Ser missense ABCB5 1 83360 1.19962E-5 41680 0 NA
7-20782571-C-G p.Ile587Met missense ABCB5 1 83364 1.19956E-5 41682 0 NA
7-20782575-C-T p.Arg589Cys missense ABCB5 10 83362 1.19959E-4 41681 0 4.45381E-4
7-20782598-G-C p.Glu596Asp missense ABCB5 4 83372 4.79777E-5 41686 0 3.1841E-5
7-20782599-C-T p.Arg597* stop_gained ABCB5 2 83370 2.39894E-5 41685 0 6.25E-4
7-20782600-G-T p.Arg597Leu missense ABCB5 1 83372 1.19944E-5 41686 0 NA
7-20782602-G-C p.Gly598Arg missense ABCB5 5 83382 5.9965E-5 41691 0 9.55231E-5
7-20782603-G-A p.Gly598Glu missense ABCB5 5 83380 5.99664E-5 41690 0 2.22687E-4
7-20782612-T-C p.Val601Ala missense ABCB5 1 83368 1.1995E-5 41684 0 1.5906E-5
7-20782614-G-C p.Ala602Pro missense ABCB5 4 83364 4.79823E-5 41682 0 2.22845E-4
7-20782621-T-C p.Val604Ala missense ABCB5 21 83370 2.51889E-4 41685 0 0.00101911
7-20782629-A-G p.Ser607Gly missense ABCB5 37 83354 4.4389E-4 41677 0 0.00454545
7-20782631-C-T p.Ser607Ser synonymous ABCB5 4 83340 4.79962E-5 41670 0 8.25055E-6
7-20782632-G-A p.Gly608Ser missense ABCB5 3 83342 3.59963E-5 41671 0 1.19303E-5
7-20782636-G-A p.Cys609Tyr missense ABCB5 6 83352 7.19839E-5 41676 0 3.30126E-5
7-20782646-CACTTCTGTTCA-C p.Val615fs frameshift ABCB5 2 83336 2.39992E-5 41668 1 NA
7-20782648-C-A p.Thr613Asn missense ABCB5 1 83334 1.19999E-5 41667 0 3.18512E-5
7-20782671-C-T p.Leu621Phe missense ABCB5 1 83270 1.20091E-5 41635 0 9.55475E-5
7-20782674-T-C p.Tyr622His missense ABCB5 1 83266 1.20097E-5 41633 0 NA
7-20782682-C-T p.Pro624Pro synonymous ABCB5 2 83208 2.40361E-5 41604 0 3.18552E-5
7-20782687-A-T p.Gln626Leu missense ABCB5 2 83176 2.40454E-5 41588 0 7.56731E-5
7-20784855-CTGTT-C p.Phe631fs frameshift ABCB5 1 82956 1.20546E-5 41478 0 NA
7-20784855-C-G p.Leu630Val missense+splice_region ABCB5 1 82956 1.20546E-5 41478 0 NA
7-20784860-T-C p.Phe631Phe synonymous ABCB5 1 83028 1.20441E-5 41514 0 7.96337E-6
7-20784865-G-C p.Gly633Ala missense ABCB5 1 83088 1.20354E-5 41544 0 3.98172E-6
7-20784879-G-C p.Glu638Gln missense ABCB5 1 83172 1.20233E-5 41586 0 NA
7-20784887-T-G p.Asn640Lys missense ABCB5 4 83222 4.80642E-5 41611 0 3.1839E-5
7-20784888-G-A p.Val641Ile missense ABCB5 2 83218 2.40333E-5 41609 0 3.29484E-5
7-20784889-T-C p.Val641Ala missense ABCB5 3 83210 3.60534E-5 41605 0 1.31794E-4
7-20784896-G-C p.Trp643Cys missense ABCB5 2 83234 2.40286E-5 41617 0 8.23683E-6
7-20784900-C-T p.Arg645Cys missense ABCB5 1 83248 1.20123E-5 41624 0 2.22387E-4
7-20784901-G-A p.Arg645His missense ABCB5 3 83262 3.60308E-5 41631 0 3.18471E-5
7-20784910-T-C p.Ile648Thr missense ABCB5 1367 83266 0.0164173 41633 25 0.057868
7-20784913-C-T p.Ala649Val missense ABCB5 1 83276 1.20083E-5 41638 0 NA
7-20784929-G-A p.Glu654Glu synonymous ABCB5 1 83300 1.20048E-5 41650 0 1.64734E-5
7-20784936-C-A p.Leu657Ile missense ABCB5 111 83316 0.00133228 41658 0 0.00264331
7-20784943-A-G p.Asn659Ser missense ABCB5 1 83332 1.20002E-5 41666 0 NA
7-20784952-T-C p.Ile662Thr missense ABCB5 7 83344 8.39893E-5 41672 0 1.27356E-4
7-20784957-G-A p.Glu664Lys missense ABCB5 1 83342 1.19988E-5 41671 0 4.11848E-5
7-20784965-C-T p.Ile666Ile synonymous ABCB5 2 83346 2.39964E-5 41673 0 1.64742E-5
7-20784966-G-A p.Ala667Thr missense ABCB5 2 83348 2.39958E-5 41674 0 6.36659E-5
7-20784973-G-C p.Gly669Ala missense ABCB5 2 83346 2.39964E-5 41673 1 NA
7-20784984-C-A p.Arg673Ser missense ABCB5 1 83350 1.19976E-5 41675 0 NA
7-20784984-C-T p.Arg673Cys missense ABCB5 1 83350 1.19976E-5 41675 0 3.18451E-5
7-20784985-G-A p.Arg673His missense ABCB5 1 83352 1.19973E-5 41676 0 5.76606E-5
7-20784996-T-G p.Leu677Val missense ABCB5 13 83348 1.55973E-4 41674 0 2.86624E-4
7-20785002-G-A p.Glu679Lys missense ABCB5 437 83348 0.00524308 41674 8 0.0120413
7-20785002-GA-G p.Glu679fs frameshift ABCB5 1 83354 1.1997E-5 41677 0 NA
7-20785006-T-A p.Ile680Asn missense ABCB5 6 83346 7.19891E-5 41673 0 9.06155E-5
7-20785011-G-A p.Glu682Lys missense ABCB5 7 83350 8.39832E-5 41675 0 0.00252016
7-20785013-A-G p.Glu682Glu synonymous ABCB5 5 83352 5.99866E-5 41676 0 1.64761E-5
7-20785014-G-T p.Ala683Ser missense ABCB5 1 83344 1.19985E-5 41672 0 1.64775E-5
7-20785016-C-T p.Ala683Ala synonymous ABCB5 6 83334 7.19994E-5 41667 0 4.11957E-5
7-20785017-G-A p.Ala684Thr missense ABCB5 27 83332 3.24005E-4 41666 0 0.0015121
7-20785031-T-C p.Asn688Asn synonymous ABCB5 2 83308 2.40073E-5 41654 0 2.47378E-5
7-20785044-A-C p.Ile693Leu missense ABCB5 3 83240 3.60404E-5 41620 0 NA
7-20785044-A-G p.Ile693Val missense ABCB5 1 83240 1.20135E-5 41620 0 1.19317E-5
7-20785045-T-C p.Ile693Thr missense ABCB5 1 83234 1.20143E-5 41617 0 1.27356E-4
7-20785053-C-T p.Leu696Phe missense ABCB5 1 83188 1.2021E-5 41594 0 1.66124E-5
7-20785055-C-T p.Leu696Leu synonymous ABCB5 2 83168 2.40477E-5 41584 0 5.82867E-5
7-20785062-G-C c.2094+1G>C splice_donor ABCB5 1 83112 1.2032E-5 41556 0 NA
7-20785069-A-C c.2094+8A>C splice_region ABCB5 1 83050 1.20409E-5 41525 0 3.98502E-6
7-20792976-G-C c.2095-7G>C splice_region ABCB5 11 83136 1.32313E-4 41568 0 4.9563E-5
7-20792985-A-G p.Lys699Lys splice_region+synonymous ABCB5 1 83212 1.20175E-5 41606 0 NA
7-20792988-C-G p.Tyr700* stop_gained ABCB5 2 83214 2.40344E-5 41607 0 NA
7-20792999-T-C p.Val704Ala missense ABCB5 1 83234 1.20143E-5 41617 0 NA
7-20793011-G-C p.Gly708Ala missense ABCB5 1 83240 1.20135E-5 41620 0 7.96071E-6
7-20793020-T-C p.Leu711Pro missense ABCB5 3 83230 3.60447E-5 41615 0 1.19351E-5
7-20793027-C-T p.Gly713Gly synonymous ABCB5 18 83216 2.16305E-4 41608 0 0.00100589
7-20793028-G-A p.Gly714Ser missense ABCB5 1 83218 1.20166E-5 41609 0 6.37267E-5
7-20793041-G-C p.Arg718Thr missense ABCB5 2 83222 2.40321E-5 41611 0 3.18471E-5
7-20793046-G-T p.Ala720Ser missense ABCB5 1 83222 1.20161E-5 41611 0 NA
7-20793047-C-G p.Ala720Gly missense ABCB5 1 83218 1.20166E-5 41609 0 1.64938E-5
7-20793051-T-G p.Ile721Met missense ABCB5 1 83220 1.20163E-5 41610 0 NA
7-20793052-G-T p.Ala722Ser missense ABCB5 1 83218 1.20166E-5 41609 0 3.18532E-5
7-20793055-A-C p.Arg723Arg synonymous ABCB5 1 83216 1.20169E-5 41608 0 NA
7-20793056-G-A p.Arg723Lys missense ABCB5 1 83214 1.20172E-5 41607 0 NA
7-20793061-C-A p.Leu725Ile missense ABCB5 1 83208 1.20181E-5 41604 0 NA
7-20793072-AC-A p.Ile731fs frameshift ABCB5 1 83200 1.20192E-5 41600 0 8.2526E-6
7-20793073-C-T p.Pro729Ser missense ABCB5 1 83190 1.20207E-5 41595 0 8.253E-6
7-20793079-ATTTTATTGTTGGATGAGGCCACTTCAGCC-A p.Ile731fs frameshift ABCB5 1 83184 1.20215E-5 41592 0 NA
7-20793096-G-A p.Glu736Glu synonymous ABCB5 1 83148 1.20267E-5 41574 0 7.96159E-6
7-20793097-GC-G p.Thr738fs frameshift ABCB5 1 83158 1.20253E-5 41579 0 NA
7-20793100-A-C p.Thr738Pro missense ABCB5 5 83148 6.01337E-5 41574 0 2.86642E-4
7-20793103-T-C p.Ser739Pro missense ABCB5 1 83144 1.20273E-5 41572 0 8.27212E-6
7-20793107-C-A p.Ala740Asp missense ABCB5 7 83130 8.42055E-5 41565 0 7.17967E-5
7-20793111-C-T p.Leu741Leu synonymous ABCB5 1 83118 1.20311E-5 41559 0 3.18593E-5
7-20793112-G-A p.Asp742Asn missense ABCB5 2 83106 2.40657E-5 41553 0 3.99447E-5
7-20793113-A-G p.Asp742Gly missense ABCB5 1325 83066 0.0159512 41533 50 0.032293
7-20793120-C-G p.Asp744Glu missense ABCB5 3 83066 3.61159E-5 41533 0 1.27372E-4
7-20793121-A-C p.Ser745Arg missense ABCB5 2 83066 2.40772E-5 41533 0 NA
7-20795044-T-C c.2242-6T>C splice_region ABCB5 2 82586 2.42172E-5 41293 0 NA
7-20795047-C-T c.2242-3C>T splice_region ABCB5 2 82634 2.42031E-5 41317 0 3.98686E-6
7-20795056-C-T p.Gln750* stop_gained ABCB5 122 82720 0.00147485 41360 2 0.00283476
7-20795064-C-T p.Ala752Ala synonymous ABCB5 1 82818 1.20747E-5 41409 0 NA
7-20795081-C-T p.Thr758Met missense ABCB5 8 82956 9.64367E-5 41478 0 1.19419E-4
7-20795082-G-A p.Thr758Thr synonymous ABCB5 169 82964 0.00203703 41482 1 0.00398064
7-20795082-G-C p.Thr758Thr synonymous ABCB5 7 82968 8.43699E-5 41484 0 4.77711E-5
7-20795084-G-A p.Gly759Glu missense ABCB5 1 82994 1.20491E-5 41497 0 8.25341E-6
7-20795092-T-G p.Cys762Gly missense ABCB5 5 83058 6.01989E-5 41529 0 1.59205E-4
7-20795095-C-A p.Leu763Ile missense ABCB5 1 83070 1.2038E-5 41535 0 8.25042E-6
7-20795097-AGTG-A p.Val765del disruptive_inframe_deletion ABCB5 1 83076 1.20372E-5 41538 0 NA
7-20795099-T-C p.Val764Ala missense ABCB5 36 83092 4.33255E-4 41546 0 0.00100705
7-20795105-C-G p.Thr766Ser missense ABCB5 2 83134 2.40575E-5 41567 0 NA
7-20795112-G-A p.Arg768Arg synonymous ABCB5 2 83138 2.40564E-5 41569 0 2.96897E-4
7-20795130-C-T p.Asn774Asn synonymous ABCB5 12 83180 1.44265E-4 41590 0 2.34744E-4
7-20795131-G-A p.Ala775Thr missense ABCB5 2 83182 2.40437E-5 41591 0 6.25E-4
7-20795147-T-C p.Val780Ala missense ABCB5 2 83188 2.40419E-5 41594 0 3.97836E-6
7-20795162-A-G p.Lys785Arg missense ABCB5 1 83204 1.20187E-5 41602 0 3.9782E-6
7-20795169-G-C p.Lys787Asn missense ABCB5 1 83196 1.20198E-5 41598 0 NA
7-20795180-C-T p.Thr791Ile missense ABCB5 9 83202 1.0817E-4 41601 0 1.59307E-4
7-20795196-G-A p.Leu796Leu synonymous ABCB5 3 83208 3.60542E-5 41604 0 8.25832E-6
7-20795203-C-A p.Arg799Arg synonymous ABCB5 1 83158 1.20253E-5 41579 0 NA
7-20795204-G-A p.Arg799Gln missense ABCB5 1 83140 1.20279E-5 41570 0 1.65259E-5
7-20795208-C-T p.Asp800Asp synonymous ABCB5 1 83138 1.20282E-5 41569 0 1.5916E-5
7-20795220-G-C p.Lys804Asn missense ABCB5 2 83082 2.40726E-5 41541 0 8.27993E-6
7-20795230-GCA-G p.Gln809fs frameshift ABCB5 2 83006 2.40946E-5 41503 0 3.40091E-4
7-20795237-C-G p.Ser810* stop_gained ABCB5 3 82934 3.61733E-5 41467 0 3.82377E-4
7-20802873-C-T c.931-6C>T splice_region ABCB5 1 51266 1.95061E-5 25633 0 2.05081E-5
7-20802876-C-T c.931-3C>T splice_region ABCB5 1 51262 1.95076E-5 25631 0 NA
7-20802879-A-C p.Ser311Arg missense+splice_region ABCB5 3 51266 5.85183E-5 25633 0 3.18451E-5
7-20802881-C-G p.Ser311Arg missense+splice_region ABCB5 1 51262 1.95076E-5 25631 0 NA
7-20802887-G-T p.Glu313Asp missense ABCB5 4 51258 7.80366E-5 25629 0 6.82529E-6