Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-229653929-T-C p.Ala738Ala synonymous ABCB10 1 83282 1.20074E-5 41641 0 NA
1-229653941-ACT-A p.Ser734fs frameshift ABCB10 1 83328 1.20008E-5 41664 0 NA
1-229653942-CTT-C p.Ser734fs frameshift ABCB10 2 83328 2.40015E-5 41664 0 NA
1-229653951-T-C p.Asn731Ser missense ABCB10 1 83338 1.19993E-5 41669 0 NA
1-229653970-T-C p.Ile725Val missense ABCB10 14 83330 1.68007E-4 41665 0 1.27364E-4
1-229653971-C-T p.Gly724Gly synonymous ABCB10 19 83328 2.28015E-4 41664 0 1.27413E-4
1-229654008-T-C p.Tyr712Cys missense ABCB10 58 83318 6.96128E-4 41659 0 0.00256937
1-229654026-T-C p.Gln706Arg missense ABCB10 1 83336 1.19996E-5 41668 0 3.18451E-5
1-229654053-T-C p.Asn697Ser missense ABCB10 1994 83312 0.0239341 41656 22 0.0239521
1-229654092-G-A p.Thr684Met missense ABCB10 2 83360 2.39923E-5 41680 0 3.18512E-5
1-229654098-C-T p.Gly682Glu missense ABCB10 11 83358 1.31961E-4 41679 0 0.00104196
1-229654104-A-ATCAG p.Met680fs frameshift ABCB10 1 83360 1.19962E-5 41680 0 NA
1-229654110-C-T p.Arg678Gln missense ABCB10 1 83356 1.19967E-5 41678 0 7.9552E-6
1-229654144-C-T p.Glu667Lys missense ABCB10 1 83270 1.20091E-5 41635 0 1.6587E-5
1-229654153-G-A p.Leu664Leu synonymous ABCB10 2 83212 2.4035E-5 41606 0 8.32709E-6
1-229654154-C-T p.Ala663Ala synonymous ABCB10 1 83198 1.20195E-5 41599 0 3.1841E-5
1-229654605-G-C p.Leu656Leu synonymous ABCB10 143 82072 0.00174237 41036 0 0.003757
1-229654617-G-C p.Pro652Pro synonymous ABCB10 1 81894 1.22109E-5 40947 0 3.18756E-5
1-229654619-G-A p.Pro652Ser missense ABCB10 2 81858 2.44326E-5 40929 0 NA
1-229654628-GAAGGAAAAAA-G c.1951-16_1951-7delTTTTTTCCTT splice_region ABCB10 2 81460 2.45519E-5 40730 0 NA
1-229654630-A-T c.1951-8T>A splice_region ABCB10 15 81380 1.8432E-4 40690 0 1.91022E-4
1-229657347-G-C p.Leu648Val missense ABCB10 1 82848 1.20703E-5 41424 0 NA
1-229657360-C-T p.Ala643Ala synonymous ABCB10 1 82904 1.20621E-5 41452 0 2.47521E-5
1-229657368-G-A p.Arg641Trp missense ABCB10 1 82898 1.2063E-5 41449 0 NA
1-229657390-A-C c.1907-8T>G splice_region ABCB10 2 82820 2.41488E-5 41410 0 3.1902E-5
1-229661678-T-C c.1906+5A>G splice_region ABCB10 1 83280 1.20077E-5 41640 0 4.09621E-6
1-229661689-G-A p.Leu634Phe missense ABCB10 3 83316 3.60075E-5 41658 0 8.27924E-6
1-229661691-A-T p.Leu633His missense ABCB10 2 83326 2.40021E-5 41663 0 5.04032E-4
1-229661698-C-T p.Gly631Ser missense ABCB10 1 83328 1.20008E-5 41664 0 NA
1-229661699-C-A p.Lys630Asn missense ABCB10 7 83330 8.40034E-5 41665 0 4.95647E-5
1-229661705-T-C p.Gly628Gly synonymous ABCB10 1 83330 1.20005E-5 41665 0 4.95229E-5
1-229661720-G-A p.Phe623Phe synonymous ABCB10 1 83358 1.19964E-5 41679 0 3.97785E-6
1-229661723-C-T p.Gly622Gly synonymous ABCB10 2 83364 2.39912E-5 41682 0 7.95513E-6
1-229661730-G-A p.Pro620Leu missense ABCB10 1 83364 1.19956E-5 41682 0 3.97706E-6
1-229661732-G-A p.Phe619Phe synonymous ABCB10 1 83364 1.19956E-5 41682 0 NA
1-229661740-G-A p.Arg617Trp missense ABCB10 1 83368 1.1995E-5 41684 0 1.64897E-5
1-229661748-G-A p.Ala614Val missense ABCB10 2 83348 2.39958E-5 41674 0 7.95368E-6
1-229661756-A-G p.Asn611Asn synonymous ABCB10 1 83346 1.19982E-5 41673 0 3.18431E-5
1-229661760-G-C p.Ala610Gly missense ABCB10 1 83344 1.19985E-5 41672 0 NA
1-229661767-C-G p.Glu608Gln missense ABCB10 1 83350 1.19976E-5 41675 0 NA
1-229661773-C-T p.Val606Met missense ABCB10 1 83346 1.19982E-5 41673 0 NA
1-229661774-T-G p.Arg605Ser missense ABCB10 1 83346 1.19982E-5 41673 0 NA
1-229661776-T-C p.Arg605Gly missense ABCB10 4 83352 4.79893E-5 41676 0 3.18451E-5
1-229661791-C-T p.Ala600Thr missense ABCB10 2 83352 2.39946E-5 41676 0 1.19304E-5
1-229661805-G-A p.Pro595Leu missense ABCB10 1 83332 1.20002E-5 41666 0 NA
1-229661839-T-C p.Ile584Val missense ABCB10 2 83284 2.40142E-5 41642 0 3.18695E-5
1-229661853-A-C p.Leu579Trp missense ABCB10 1 83246 1.20126E-5 41623 0 4.09092E-6
1-229661870-A-T c.1726-7T>A splice_region ABCB10 29 83148 3.48776E-4 41574 0 6.25E-4
1-229662980-C-T p.Ser574Asn missense ABCB10 1 82928 1.20587E-5 41464 0 NA
1-229662989-C-T p.Gly571Glu missense ABCB10 1 83014 1.20462E-5 41507 0 NA
1-229663000-T-C p.Arg567Arg synonymous ABCB10 1 83092 1.20349E-5 41546 0 NA
1-229663015-G-A p.Asn562Asn synonymous ABCB10 1 83074 1.20375E-5 41537 0 NA
1-229663025-C-T p.Arg559His missense ABCB10 1 83024 1.20447E-5 41512 0 1.59274E-5
1-229663026-G-A p.Arg559Cys missense ABCB10 1 83014 1.20462E-5 41507 0 1.91119E-4
1-229663032-C-T p.Asp557Asn missense ABCB10 1 83020 1.20453E-5 41510 0 NA
1-229663050-T-C p.Ile551Val missense ABCB10 1 82916 1.20604E-5 41458 0 1.65678E-5
1-229663053-T-C p.Thr550Ala missense+splice_region ABCB10 1 82906 1.20619E-5 41453 0 1.90259E-4
1-229665938-CT-C c.1645+7delA splice_region ABCB10 1 80786 1.23784E-5 40393 0 NA
1-229665940-GCTT-G c.1645+3_1645+5delAAG splice_region ABCB10 1 80896 1.23616E-5 40448 0 NA
1-229665945-C-G c.1645+1G>C splice_donor ABCB10 1 81050 1.23381E-5 40525 0 NA
1-229665958-C-T p.Asp545Asn missense ABCB10 854 81348 0.0104981 40674 5 0.0106516
1-229665958-C-G p.Asp545His missense ABCB10 1 81376 1.22886E-5 40688 0 3.97893E-6
1-229665959-G-A p.Tyr544Tyr synonymous ABCB10 3 81462 3.6827E-5 40731 0 9.55779E-5
1-229665964-A-G p.Leu543Leu synonymous ABCB10 6 81674 7.34628E-5 40837 0 3.18654E-5
1-229665974-G-A p.Leu539Leu synonymous ABCB10 3 81906 3.66274E-5 40953 0 NA
1-229665988-T-C p.Thr535Ala missense ABCB10 1 82264 1.2156E-5 41132 0 7.4162E-5
1-229665995-G-A p.Gly532Gly synonymous ABCB10 2 82412 2.42683E-5 41206 0 NA
1-229666009-G-T p.Pro528Thr missense ABCB10 1 82682 1.20945E-5 41341 0 3.97652E-6
1-229666018-G-A p.Leu525Leu synonymous ABCB10 23 82882 2.77503E-4 41441 0 5.09652E-4
1-229666019-T-G p.Ala524Ala synonymous ABCB10 8 82886 9.65181E-5 41443 0 1.40061E-4
1-229666022-C-T p.Thr523Thr synonymous ABCB10 2 82944 2.41127E-5 41472 0 6.37511E-5
1-229666023-G-A p.Thr523Met missense ABCB10 2 82948 2.41115E-5 41474 0 3.29549E-5
1-229666027-C-T p.Val522Ile missense ABCB10 1 83042 1.20421E-5 41521 0 8.23859E-6
1-229666029-G-A p.Ser521Phe missense ABCB10 1 83076 1.20372E-5 41538 0 3.97633E-6
1-229666034-T-C p.Ser519Ser synonymous ABCB10 2 83112 2.40639E-5 41556 0 3.18112E-4
1-229666037-C-T p.Pro518Pro synonymous ABCB10 298 83148 0.00358397 41574 3 0.00395439
1-229666039-G-T p.Pro518Thr missense ABCB10 3 83200 3.60577E-5 41600 1 NA
1-229666042-T-C p.Ile517Val missense ABCB10 3 83216 3.60508E-5 41608 0 3.18532E-5
1-229666048-G-A p.Leu515Phe missense ABCB10 1 83248 1.20123E-5 41624 0 3.9764E-6
1-229666055-A-T p.Asp512Glu missense ABCB10 1 83290 1.20062E-5 41645 0 1.19292E-5
1-229666056-T-C p.Asp512Gly missense ABCB10 1 83292 1.2006E-5 41646 0 1.47128E-4
1-229666058-C-CTGAAATATGG p.Gln511fs frameshift ABCB10 1 83308 1.20036E-5 41654 0 3.18471E-5
1-229666069-G-C p.Pro508Ala missense ABCB10 1 83358 1.19964E-5 41679 0 NA
1-229666070-C-A p.Val507Val synonymous ABCB10 1 83358 1.19964E-5 41679 0 3.97646E-6
1-229666072-C-T p.Val507Met missense ABCB10 1 83362 1.19959E-5 41681 0 8.24131E-6
1-229666078-G-C p.Pro505Ala missense ABCB10 1 83376 1.19939E-5 41688 0 NA
1-229666082-A-G p.Ala503Ala synonymous ABCB10 2 83370 2.39894E-5 41685 0 3.18471E-5
1-229666102-C-T p.Val497Met missense ABCB10 3 83376 3.59816E-5 41688 0 0.00100705
1-229666103-G-A p.Asn496Asn synonymous ABCB10 2 83374 2.39883E-5 41687 0 3.18471E-5
1-229666103-G-C p.Asn496Lys missense ABCB10 1 83374 1.19941E-5 41687 0 8.25518E-6
1-229666108-T-C p.Lys495Glu missense ABCB10 2 83374 2.39883E-5 41687 0 1.59286E-4
1-229666140-T-C p.Asn484Ser missense ABCB10 4 83268 4.80377E-5 41634 0 8.29793E-6
1-229666150-C-T p.Val481Ile missense ABCB10 16 83186 1.9234E-4 41593 0 4.5767E-4
1-229666150-C-A p.Val481Phe missense ABCB10 2 83186 2.40425E-5 41593 0 3.18532E-5
1-229667375-A-T c.1435+8T>A splice_region ABCB10 1 81344 1.22935E-5 40672 0 4.46116E-4
1-229667378-C-T c.1435+5G>A splice_region ABCB10 1 81432 1.22802E-5 40716 0 NA
1-229667383-C-T p.Glu479Lys missense+splice_region ABCB10 4 81556 4.90461E-5 40778 0 4.94609E-5
1-229667384-G-T p.Asn478Lys missense+splice_region ABCB10 206 81600 0.00252451 40800 1 0.00375964
1-229667386-T-C p.Asn478Asp missense ABCB10 1 81654 1.22468E-5 40827 0 3.18837E-5
1-229667401-GCT-G p.Glu472fs frameshift ABCB10 1 81880 1.2213E-5 40940 0 NA
1-229667404-C-G p.Glu472Gln missense ABCB10 7 81918 8.54513E-5 40959 0 1.27478E-4
1-229667408-C-T p.Glu470Glu synonymous ABCB10 8 81922 9.76539E-5 40961 0 3.29554E-5
1-229667423-G-A p.Leu465Leu synonymous ABCB10 1 82040 1.21892E-5 41020 0 NA
1-229667428-G-GC p.Arg464fs frameshift ABCB10 1 82052 1.21874E-5 41026 0 NA
1-229667428-G-A p.Arg464Cys missense ABCB10 3 82052 3.65622E-5 41026 0 7.96737E-6
1-229667429-C-A p.Gly463Gly synonymous ABCB10 5 82064 6.09281E-5 41032 0 1.59378E-5
1-229667429-C-G p.Gly463Gly synonymous ABCB10 9 82064 1.09671E-4 41032 0 6.25E-4
1-229667433-C-A p.Gly462Val missense ABCB10 1 82124 1.21767E-5 41062 0 NA
1-229667460-G-A p.Ser453Leu missense ABCB10 3 82400 3.64078E-5 41200 0 9.07291E-5
1-229667467-AAG-A p.Ser450fs frameshift ABCB10 1 82502 1.21209E-5 41251 0 NA
1-229675215-T-C p.Ile443Val missense ABCB10 1 81680 1.22429E-5 40840 0 NA
1-229675217-C-G p.Gly442Ala missense ABCB10 3 81700 3.67197E-5 40850 0 7.96292E-6
1-229675261-G-A p.Thr427Thr synonymous ABCB10 9 82462 1.09141E-4 41231 0 0.00101937
1-229675266-T-C p.Met426Val missense ABCB10 1 82586 1.21086E-5 41293 0 NA
1-229675268-T-G p.His425Pro missense ABCB10 4 82598 4.84273E-5 41299 0 3.29522E-5
1-229675285-C-T p.Leu419Leu synonymous ABCB10 1 82768 1.2082E-5 41384 0 3.18451E-5
1-229675313-A-C p.Val410Gly missense ABCB10 1 82876 1.20662E-5 41438 0 0.00101112
1-229675314-C-T p.Val410Met missense ABCB10 1 82864 1.2068E-5 41432 0 3.18471E-5
1-229675315-G-T p.Ile409Ile synonymous ABCB10 1 82846 1.20706E-5 41423 0 NA
1-229675316-ATCAGGTT-A p.Asn407fs frameshift ABCB10 1 82866 1.20677E-5 41433 0 NA
1-229675326-C-T p.Gly406Arg missense ABCB10 1 82706 1.2091E-5 41353 0 2.47345E-5
1-229675330-G-A p.Leu404Leu synonymous ABCB10 1 82642 1.21004E-5 41321 0 NA
1-229675332-G-A p.Leu404Phe missense ABCB10 1 82572 1.21106E-5 41286 0 3.18593E-5
1-229675337-G-A p.Thr402Ile missense+splice_region ABCB10 2 82528 2.42342E-5 41264 0 5.05051E-4
1-229675338-TC-T c.1204-1delG splice_acceptor ABCB10 2 82504 2.42412E-5 41252 1 NA
1-229675343-C-T c.1204-5G>A splice_region ABCB10 1982 82322 0.0240762 41161 91 0.0394326
1-229675344-G-A c.1204-6C>T splice_region ABCB10 1 82324 1.21471E-5 41162 0 1.27413E-4
1-229676368-A-G p.Ala396Ala synonymous ABCB10 2 82588 2.42166E-5 41294 0 7.99533E-6
1-229676371-C-T p.Arg395Arg synonymous ABCB10 1 82610 1.21051E-5 41305 0 3.9916E-6
1-229676372-C-T p.Arg395Gln missense ABCB10 3 82620 3.63108E-5 41310 0 3.18492E-5
1-229676373-G-A p.Arg395Trp missense ABCB10 7 82620 8.47252E-5 41310 0 1.03816E-4
1-229676374-G-A p.Ala394Ala synonymous ABCB10 4 82636 4.84051E-5 41318 0 6.45161E-4
1-229676376-C-T p.Ala394Thr missense ABCB10 2 82640 2.42014E-5 41320 0 2.39479E-5
1-229676377-G-A p.Phe393Phe synonymous ABCB10 4 82666 4.83875E-5 41333 0 7.58156E-5
1-229676398-C-T p.Gln386Gln synonymous ABCB10 1 82980 1.20511E-5 41490 0 7.95893E-6
1-229676404-T-A p.Val384Val synonymous ABCB10 41 83108 4.93334E-4 41554 0 5.04032E-4
1-229676410-G-T p.Asp382Glu missense ABCB10 4 83202 4.80758E-5 41601 0 3.29495E-5
1-229676421-T-G p.Ser379Arg missense ABCB10 1 83294 1.20057E-5 41647 0 1.19305E-5
1-229676434-G-A p.Ile374Ile synonymous ABCB10 4 83346 4.79927E-5 41673 0 6.36902E-5
1-229676462-C-T p.Arg365Gln missense ABCB10 3 83328 3.60023E-5 41664 0 1.194E-5
1-229676467-A-G p.Thr363Thr synonymous ABCB10 2 83304 2.40085E-5 41652 0 3.1841E-5
1-229676501-T-C c.1057-2A>G splice_acceptor ABCB10 1 83144 1.20273E-5 41572 0 NA
1-229676502-G-GAGT c.1057-4_1057-3insACT splice_region ABCB10 6 83146 7.21622E-5 41573 3 NA
1-229676502-G-GAGTGGCTTGTGCCAGGGAATCCTGAGTGACTTT c.1057-4_1057-3insAAAGTCACTCAGGATTCCCTGGCACAAGCCACT splice_region ABCB10 2 83146 2.40541E-5 41573 1 NA
1-229677989-T-C p.Thr351Ala missense ABCB10 1 82812 1.20755E-5 41406 0 NA
1-229678018-T-G p.Lys341Thr missense ABCB10 11 83164 1.32269E-4 41582 0 3.18796E-4
1-229678020-G-A p.Thr340Thr synonymous ABCB10 1 83184 1.20215E-5 41592 0 NA
1-229678020-G-C p.Thr340Thr synonymous ABCB10 1 83184 1.20215E-5 41592 0 NA
1-229678029-C-T p.Arg337Arg synonymous ABCB10 4 83244 4.80515E-5 41622 0 3.18979E-5
1-229678030-C-T p.Arg337Gln missense ABCB10 6 83242 7.2079E-5 41621 0 3.58061E-5
1-229678035-A-G p.Tyr335Tyr synonymous ABCB10 1 83308 1.20036E-5 41654 0 8.27883E-6
1-229678053-A-G p.Ala329Ala synonymous ABCB10 1 83354 1.1997E-5 41677 0 1.19334E-5
1-229678057-A-G p.Ile328Thr missense ABCB10 2 83362 2.39917E-5 41681 0 6.37552E-5
1-229678069-G-A p.Pro324Leu missense ABCB10 5 83358 5.99822E-5 41679 0 8.32806E-6
1-229678079-C-T p.Val321Met missense ABCB10 13 83342 1.55984E-4 41671 0 6.25E-4
1-229678080-G-T p.Ser320Arg missense ABCB10 1 83344 1.19985E-5 41672 0 NA
1-229678083-C-T p.Leu319Leu synonymous ABCB10 2 83346 2.39964E-5 41673 0 NA
1-229678101-A-G p.Asn313Asn synonymous ABCB10 1 83330 1.20005E-5 41665 0 3.18552E-5
1-229678105-G-A p.Pro312Leu missense ABCB10 2 83310 2.40067E-5 41655 0 NA
1-229678106-G-A p.Pro312Ser missense ABCB10 3 83312 3.60092E-5 41656 0 1.61285E-5
1-229678110-G-A p.Val310Val synonymous ABCB10 2 83296 2.40108E-5 41648 0 8.20573E-6
1-229678120-T-G c.922-2A>C splice_acceptor ABCB10 4 83138 4.81128E-5 41569 0 NA
1-229683241-C-T c.921+5G>A splice_region ABCB10 2 80466 2.48552E-5 40233 0 NA
1-229683245-C-A c.921+1G>T splice_donor ABCB10 3 80582 3.72292E-5 40291 0 1.27356E-4
1-229683247-A-G p.Met307Thr missense+splice_region ABCB10 3 80618 3.72125E-5 40309 0 8.28967E-6
1-229683257-T-G p.Ile304Leu missense ABCB10 1 80780 1.23793E-5 40390 0 8.27952E-6
1-229683264-G-A p.Ser301Ser synonymous ABCB10 22474 80238 0.280092 40119 3561 0.310796
1-229683269-C-G p.Ala300Pro missense ABCB10 2 81010 2.46883E-5 40505 0 9.55292E-5
1-229683276-C-G p.Gly297Gly synonymous ABCB10 4 81142 4.92963E-5 40571 0 2.47598E-5
1-229683278-C-T p.Gly297Arg missense ABCB10 1 81186 1.23174E-5 40593 0 1.19509E-5
1-229683279-G-A p.Ala296Ala synonymous ABCB10 2 81206 2.46287E-5 40603 0 3.18431E-5
1-229683288-C-A p.Gly293Gly synonymous ABCB10 1 81480 1.2273E-5 40740 0 NA
1-229683307-G-C p.Thr287Ser missense ABCB10 1 81764 1.22303E-5 40882 0 NA
1-229683328-G-A p.Ala280Val missense ABCB10 1 82138 1.21746E-5 41069 0 NA
1-229683329-C-T p.Ala280Thr missense ABCB10 1 82154 1.21723E-5 41077 0 NA
1-229683331-G-A p.Thr279Ile missense ABCB10 1 82228 1.21613E-5 41114 0 NA
1-229683342-G-A p.Leu275Leu synonymous ABCB10 1 82434 1.21309E-5 41217 0 NA
1-229683346-C-A p.Arg274Leu missense ABCB10 2 82488 2.4246E-5 41244 0 NA
1-229683346-C-T p.Arg274His missense ABCB10 2 82488 2.4246E-5 41244 0 3.2969E-5
1-229683347-G-A p.Arg274Cys missense ABCB10 2 82554 2.42266E-5 41277 0 1.64837E-5
1-229683354-C-T p.Leu271Leu synonymous ABCB10 1 82738 1.20863E-5 41369 0 1.64815E-5
1-229683363-T-C p.Thr268Thr synonymous ABCB10 1 82866 1.20677E-5 41433 0 8.23995E-6
1-229683368-G-A p.Arg267Cys missense ABCB10 7 82946 8.43923E-5 41473 1 NA
1-229683370-G-A p.Thr266Ile missense ABCB10 1 83038 1.20427E-5 41519 0 3.97678E-6
1-229683381-G-C p.Phe262Leu missense ABCB10 1 83146 1.2027E-5 41573 0 NA
1-229683408-G-A p.Ser253Ser synonymous ABCB10 1 83282 1.20074E-5 41641 0 3.18451E-5
1-229683427-A-G p.Leu247Pro missense ABCB10 1 83270 1.20091E-5 41635 0 NA
1-229683442-C-T p.Arg242His missense ABCB10 2 83242 2.40263E-5 41621 0 6.76224E-5
1-229683443-G-A p.Arg242Cys missense ABCB10 1 83244 1.20129E-5 41622 0 1.03422E-4
1-229683450-T-C c.719-2A>G splice_acceptor ABCB10 1 83156 1.20256E-5 41578 0 3.97833E-6
1-229683451-G-A c.719-3C>T splice_region ABCB10 3 83158 3.60759E-5 41579 0 7.95735E-6
1-229684975-T-C c.718+6A>G splice_region ABCB10 3 82294 3.64547E-5 41147 0 NA
1-229684975-T-G c.718+6A>C splice_region ABCB10 1 82294 1.21516E-5 41147 0 2.38812E-5
1-229684976-G-A c.718+5C>T splice_region ABCB10 8 82338 9.71605E-5 41169 0 3.50296E-4
1-229684979-ACC-CCA p.Gly240Cys splice_donor ABCB10 1 82432 1.21312E-5 41216 0 NA
1-229685005-G-A p.Arg232Cys missense ABCB10 1 82914 1.20607E-5 41457 0 3.18451E-5
1-229685017-C-G p.Ala228Pro missense ABCB10 2 83058 2.40796E-5 41529 0 NA
1-229685018-G-A p.Ala227Ala synonymous ABCB10 1 83086 1.20357E-5 41543 0 3.18451E-5
1-229685033-A-C p.Phe222Leu missense ABCB10 2 83166 2.40483E-5 41583 0 NA
1-229685040-G-C p.Ala220Gly missense ABCB10 1 83186 1.20213E-5 41593 0 NA
1-229685045-G-C p.Leu218Leu synonymous ABCB10 1 83202 1.20189E-5 41601 0 8.23791E-6
1-229685047-G-A p.Leu218Phe missense ABCB10 3 83198 3.60586E-5 41599 0 6.3674E-5
1-229685048-C-G p.Gly217Gly synonymous ABCB10 1 83202 1.20189E-5 41601 0 NA
1-229685051-T-A p.Leu216Leu synonymous ABCB10 1 83216 1.20169E-5 41608 0 NA
1-229685061-C-T p.Arg213His missense ABCB10 7 83230 8.41043E-5 41615 0 1.59276E-4
1-229685062-G-A p.Arg213Cys missense ABCB10 7 83236 8.40982E-5 41618 0 6.37064E-5
1-229685073-T-C p.Asp209Gly missense ABCB10 4 82980 4.82044E-5 41490 0 0.001875
1-229685114-G-C p.Ile195Met missense ABCB10 2 83328 2.40015E-5 41664 0 NA
1-229685122-C-T p.Gly193Arg missense ABCB10 1 83332 1.20002E-5 41666 0 3.97735E-6
1-229685134-G-A p.Pro189Ser missense ABCB10 3 83364 3.59868E-5 41682 0 6.37064E-5
1-229685143-T-C p.Met186Val missense ABCB10 1 83356 1.19967E-5 41678 0 3.9782E-6
1-229685144-G-A p.Ser185Ser synonymous ABCB10 16 83350 1.91962E-4 41675 0 8.75211E-5
1-229685147-G-A p.Ile184Ile synonymous ABCB10 216 83346 0.00259161 41673 0 0.00538217
1-229685159-C-T p.Met180Ile missense ABCB10 1 83340 1.1999E-5 41670 0 3.98226E-6
1-229685162-C-T p.Thr179Thr synonymous ABCB10 829 83318 0.00994983 41659 26 0.0205532
1-229685163-G-A p.Thr179Met missense ABCB10 1 83312 1.20031E-5 41656 0 8.82068E-5
1-229685168-A-G p.Phe177Phe synonymous ABCB10 1 83302 1.20045E-5 41651 0 NA
1-229685177-C-A p.Ala174Ala synonymous ABCB10 1 83258 1.20109E-5 41629 0 4.01236E-6
1-229685177-C-T p.Ala174Ala synonymous ABCB10 2 83258 2.40217E-5 41629 0 4.01236E-6
1-229685183-T-TGCCAGCCTCCGGCGCTCAGGGTACGCC c.518-3_518-2insGGCGTACCCTGAGCGCCGGAGGCTGGC splice_region ABCB10 1 83208 1.20181E-5 41604 0 NA
1-229685185-G-A c.518-4C>T splice_region ABCB10 1 83194 1.20201E-5 41597 0 1.03702E-5
1-229693875-G-A c.517+8C>T splice_region ABCB10 1 36380 2.74876E-5 18190 0 1.28238E-4
1-229693882-C-T c.517+1G>A splice_donor ABCB10 1 36736 2.72213E-5 18368 0 NA
1-229693891-C-A p.Arg170Met missense ABCB10 2 36902 5.41976E-5 18451 0 NA
1-229693902-AG-A p.Pro166fs frameshift ABCB10 1 36946 2.70665E-5 18473 0 3.56494E-5
1-229693929-G-A p.Ala157Ala synonymous ABCB10 1 36810 2.71665E-5 18405 0 1.62364E-5
1-229693936-G-A p.Pro155Leu missense ABCB10 2 36716 5.44722E-5 18358 0 0.00298507
1-229693950-T-C p.Ala150Ala synonymous ABCB10 1 36326 2.75285E-5 18163 0 NA
1-229693952-C-A p.Ala150Ser missense ABCB10 204 36218 0.00563256 18109 4 0.0138467
1-229693953-G-C p.Pro149Pro synonymous ABCB10 16 36252 4.41355E-4 18126 0 4.10969E-4
1-229693956-G-A p.Arg148Arg synonymous ABCB10 2 36166 5.53006E-5 18083 0 1.30022E-4
1-229693967-C-A p.Gly145Trp missense ABCB10 1 35852 2.78924E-5 17926 0 NA
1-229693968-C-G p.Lys144Asn missense ABCB10 2 35628 5.61356E-5 17814 0 NA
1-229693969-T-C p.Lys144Arg missense ABCB10 1 35558 2.81231E-5 17779 0 5.10725E-4
1-229693976-C-G p.Gly142Arg missense ABCB10 4 35006 1.14266E-4 17503 0 4.02901E-4
1-229693976-C-T p.Gly142Arg missense ABCB10 1 35006 2.85665E-5 17503 0 4.04138E-5
1-229693977-G-A p.Pro141Pro synonymous ABCB10 3 34972 8.57829E-5 17486 0 4.04465E-5
1-229693995-G-A p.Arg135Arg synonymous ABCB10 26 34066 7.63224E-4 17033 0 0.00161812
1-229693996-C-T p.Arg135His missense ABCB10 1 34068 2.93531E-5 17034 0 NA
1-229694049-C-T p.Arg117Arg synonymous ABCB10 2 30690 6.51678E-5 15345 0 NA
1-229694054-C-A p.Ala116Ser missense ABCB10 1 30376 3.29207E-5 15188 0 NA
1-229694093-C-A p.Gly103Trp missense ABCB10 1 31744 3.1502E-5 15872 0 NA
1-229694111-G-A p.Pro97Ser missense ABCB10 2 31574 6.33433E-5 15787 0 NA
1-229694112-G-A p.Gly96Gly synonymous ABCB10 1 31556 3.16897E-5 15778 0 3.98391E-5
1-229694116-C-T p.Arg95His missense ABCB10 2 31516 6.34598E-5 15758 0 7.29661E-5
1-229694124-C-A p.Leu92Leu synonymous ABCB10 1 31742 3.1504E-5 15871 0 NA
1-229694127-C-A p.Gly91Gly synonymous ABCB10 8 31966 2.50266E-4 15983 0 0.00726855
1-229694127-CCCCAGGAGCCGCGCGAGG-C p.Leu86_Gly91del disruptive_inframe_deletion ABCB10 1 31966 3.12832E-5 15983 0 NA
1-229694139-C-A p.Ala87Ala synonymous ABCB10 1 30702 3.25712E-5 15351 0 NA
1-229694145-G-A p.Gly85Gly synonymous ABCB10 1 31058 3.21978E-5 15529 0 NA
1-229694149-A-G p.Leu84Pro missense ABCB10 531 30800 0.0172403 15400 23 0.0519126
1-229694150-G-C p.Leu84Val missense ABCB10 2 30854 6.48214E-5 15427 0 7.54148E-5
1-229694152-A-C p.Val83Gly missense ABCB10 224 30784 0.00727651 15392 6 0.0226613
1-229694161-G-A p.Ser80Leu missense ABCB10 1 29828 3.35255E-5 14914 0 NA
1-229694163-G-A p.Ala79Ala synonymous ABCB10 1 29840 3.35121E-5 14920 0 NA
1-229694169-C-G p.Pro77Pro synonymous ABCB10 1 29832 3.3521E-5 14916 0 NA
1-229694170-GGA-G p.Pro77fs frameshift ABCB10 1 29844 3.35076E-5 14922 0 NA
1-229694175-C-A p.Gly75Gly synonymous ABCB10 1 29812 3.35435E-5 14906 0 2.1328E-4
1-229694178-G-C p.Gly74Gly synonymous ABCB10 1 29770 3.35909E-5 14885 0 NA
1-229694188-CCGCTCCTCCAGCGGCG-C p.Arg66fs frameshift ABCB10 1 29778 3.35818E-5 14889 0 NA
1-229694190-G-A p.Ser70Ser synonymous ABCB10 1 29808 3.3548E-5 14904 0 NA
1-229694196-C-G p.Trp68Cys missense ABCB10 2 29960 6.67557E-5 14980 0 NA
1-229694216-C-A p.Val62Phe missense ABCB10 2 30158 6.63174E-5 15079 0 NA
1-229694223-GAGCAGCGCGGGCCCCGCGCCCCAT-G p.Trp52_Leu59del disruptive_inframe_deletion ABCB10 1 32132 3.11216E-5 16066 0 NA
1-229694223-G-C p.Leu59Leu synonymous ABCB10 3 32132 9.33649E-5 16066 0 1.02754E-4
1-229694223-G-A p.Leu59Leu synonymous ABCB10 1 32132 3.11216E-5 16066 0 NA
1-229694226-C-A p.Leu58Leu synonymous ABCB10 1 32182 3.10733E-5 16091 0 3.41623E-5
1-229694228-G-A p.Leu58Leu synonymous ABCB10 1 32566 3.07069E-5 16283 0 NA
1-229694229-C-T p.Ala57Ala synonymous ABCB10 6 32560 1.84275E-4 16280 0 3.75452E-4
1-229694234-G-A p.Pro56Ser missense ABCB10 1 32758 3.05269E-5 16379 0 4.91787E-5
1-229694235-C-A p.Gly55Gly synonymous ABCB10 1 32922 3.03748E-5 16461 0 NA
1-229694243-C-A p.Gly53Cys missense ABCB10 1 34338 2.91223E-5 17169 0 NA
1-229694247-T-C p.Leu51Leu synonymous ABCB10 4 34538 1.15814E-4 17269 0 0.00167898
1-229694250-C-T p.Arg50Arg synonymous ABCB10 1 34688 2.88284E-5 17344 0 NA
1-229694254-G-C p.Ala49Gly missense ABCB10 1 35106 2.84852E-5 17553 0 1.62591E-5
1-229694258-G-A p.Pro48Ser missense ABCB10 1 35540 2.81373E-5 17770 0 NA
1-229694271-G-A p.Phe43Phe synonymous ABCB10 1 36636 2.72956E-5 18318 0 NA
1-229694283-G-A p.Ser39Ser synonymous ABCB10 1 37048 2.6992E-5 18524 0 NA
1-229694284-G-C p.Ser39Cys missense ABCB10 1 37046 2.69935E-5 18523 0 6.61288E-5
1-229694285-AC-A p.Ser39fs frameshift ABCB10 1 37046 2.69935E-5 18523 0 NA
1-229694294-C-T p.Val36Ile missense ABCB10 2 37154 5.383E-5 18577 0 4.0108E-5
1-229694294-C-G p.Val36Leu missense ABCB10 1 37154 2.6915E-5 18577 0 NA
1-229694297-G-C p.Arg35Gly missense ABCB10 1 37184 2.68933E-5 18592 0 NA
1-229694305-G-A p.Ala32Val missense ABCB10 2 37252 5.36884E-5 18626 0 8.48896E-4
1-229694307-G-C p.Ala31Ala synonymous ABCB10 1 37304 2.68068E-5 18652 0 NA
1-229694316-G-A p.Cys28Cys synonymous ABCB10 1 37380 2.67523E-5 18690 0 0.00277778
1-229694342-G-A p.Pro20Ser missense ABCB10 1 37120 2.69397E-5 18560 0 NA
1-229694353-C-T p.Ser16Asn missense ABCB10 2 36944 5.4136E-5 18472 0 NA
1-229694355-C-T p.Pro15Pro synonymous ABCB10 1 36888 2.71091E-5 18444 0 NA
1-229694357-G-C p.Pro15Ala missense ABCB10 1 36894 2.71047E-5 18447 0 3.33178E-5
1-229694359-G-C p.Pro14Arg missense ABCB10 1 36728 2.72272E-5 18364 0 3.33111E-5
1-229694359-G-A p.Pro14Leu missense ABCB10 1 36728 2.72272E-5 18364 0 NA
1-229694371-C-G p.Arg10Pro missense ABCB10 4 36436 1.09782E-4 18218 0 6.62647E-5
1-229694371-C-A p.Arg10Leu missense ABCB10 1 36436 2.74454E-5 18218 0 NA
1-229694385-A-AG p.Ala6fs frameshift ABCB10 1 36134 2.76748E-5 18067 0 8.56653E-4
1-229694391-G-A p.Gly3Gly synonymous ABCB10 1 35790 2.79408E-5 17895 0 3.27826E-5
1-229694391-G-C p.Gly3Gly synonymous ABCB10 2 35790 5.58815E-5 17895 0 3.27826E-5