Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-67143731-A-C p.Asp53Glu missense ABCA10 1 956 0.00104603 478 0 NA
17-67144734-G-A c.*4267C>T splice_region ABCA10 51 40064 0.00127296 20032 0 5.09684E-4
17-67144970-A-C p.Ter1544Gluext*? stop_lost ABCA10 2 82532 2.4233E-5 41266 0 NA
17-67144973-G-C p.Pro1543Ala missense ABCA10 3 82602 3.63187E-5 41301 0 9.55962E-5
17-67144974-G-A p.Asp1542Asp synonymous ABCA10 1 82620 1.21036E-5 41310 0 6.46831E-4
17-67144984-G-A p.Pro1539Leu missense ABCA10 2 82802 2.4154E-5 41401 0 NA
17-67145001-A-C p.Val1533Val synonymous ABCA10 1 82958 1.20543E-5 41479 0 NA
17-67145004-T-C p.Thr1532Thr synonymous ABCA10 1 82988 1.20499E-5 41494 0 NA
17-67145008-G-C p.Thr1531Arg missense ABCA10 2 83012 2.40929E-5 41506 0 NA
17-67145012-C-T p.Asp1530Asn missense ABCA10 1 83044 1.20418E-5 41522 0 NA
17-67145018-T-C p.Lys1528Glu missense ABCA10 1 83068 1.20383E-5 41534 0 3.18431E-5
17-67145023-T-A p.Asp1526Val missense ABCA10 1 83074 1.20375E-5 41537 0 7.96559E-6
17-67145025-A-G p.Val1525Val synonymous ABCA10 4 83084 4.8144E-5 41542 0 NA
17-67145026-A-C p.Val1525Gly missense ABCA10 2 83082 2.40726E-5 41541 0 NA
17-67145039-C-A p.Glu1521* stop_gained ABCA10 1 83086 1.20357E-5 41543 0 NA
17-67145040-C-G p.Gln1520His missense ABCA10 1 83096 1.20343E-5 41548 0 NA
17-67145058-T-C p.Leu1514Leu synonymous ABCA10 1 83108 1.20325E-5 41554 0 NA
17-67145170-C-A c.4533+4G>T splice_region ABCA10 9 83270 1.08082E-4 41635 0 4.94486E-5
17-67145177-C-T p.Glu1510Glu synonymous ABCA10 1 83270 1.20091E-5 41635 0 NA
17-67145190-TGA-T p.Gln1506fs frameshift ABCA10 5778 83202 0.0694454 41601 279 0.0809189
17-67145199-C-T p.Ser1503Asn missense ABCA10 1 83238 1.20137E-5 41619 0 NA
17-67145202-T-C p.Tyr1502Cys missense ABCA10 1 83240 1.20135E-5 41620 0 8.24035E-6
17-67145212-G-C p.Leu1499Val missense ABCA10 5 83206 6.00918E-5 41603 0 1.27397E-4
17-67145227-T-A p.Lys1494* stop_gained ABCA10 1 83130 1.20294E-5 41565 0 4.12086E-5
17-67145228-C-A p.Met1493Ile missense+splice_region ABCA10 1 83120 1.20308E-5 41560 0 NA
17-67146120-CT-C c.4477+4delA splice_region ABCA10 2 83040 2.40848E-5 41520 0 1.20333E-5
17-67146126-C-T p.Ala1492Ala splice_region+synonymous ABCA10 2 83070 2.40761E-5 41535 0 3.18796E-5
17-67146127-G-A n.465+2C>T splice_donor ABCA10 8 83074 9.62997E-5 41537 0 9.95305E-5
17-67146128-C-A n.465+1G>T splice_donor ABCA10 1 83094 1.20346E-5 41547 0 3.18532E-5
17-67146139-A-G p.Phe1488Ser missense ABCA10 14 83130 1.68411E-4 41565 0 0.0015121
17-67146149-G-A p.Arg1485Trp missense ABCA10 459 83126 0.00552174 41563 1 0.00507623
17-67146166-T-C p.Asp1479Gly missense ABCA10 1 83150 1.20265E-5 41575 0 9.55475E-5
17-67146173-C-A p.Val1477Leu missense ABCA10 1 83158 1.20253E-5 41579 0 3.18492E-5
17-67146175-G-C p.Pro1476Arg missense ABCA10 2 83166 2.40483E-5 41583 0 NA
17-67146176-G-A p.Pro1476Ser missense ABCA10 7 83160 8.41751E-5 41580 0 5.41505E-4
17-67146184-T-C p.Tyr1473Cys missense ABCA10 3 83160 3.6075E-5 41580 0 1.40561E-4
17-67146186-C-A p.Ala1472Ala synonymous ABCA10 2 83156 2.40512E-5 41578 0 1.59266E-4
17-67146186-C-T p.Ala1472Ala synonymous ABCA10 8 83156 9.62047E-5 41578 0 0.00100705
17-67146188-C-T p.Ala1472Thr missense ABCA10 63 83138 7.57776E-4 41569 0 5.29328E-4
17-67146191-T-C p.Met1471Val missense ABCA10 6 83138 7.21692E-5 41569 0 4.13674E-5
17-67146204-T-A p.Arg1466Ser missense+splice_region ABCA10 2 83072 2.40755E-5 41536 0 9.55414E-5
17-67148185-T-C p.Arg1466Gly missense+splice_region ABCA10 1 82614 1.21045E-5 41307 0 NA
17-67148197-C-A p.Ala1462Ser missense ABCA10 1 82798 1.20776E-5 41399 0 8.26255E-6
17-67148197-C-G p.Ala1462Pro missense ABCA10 1 82798 1.20776E-5 41399 0 8.26255E-5
17-67148212-G-A p.Leu1457Phe missense ABCA10 4 82986 4.82009E-5 41493 0 1.00503E-4
17-67148224-C-G p.Glu1453Gln missense ABCA10 1 83102 1.20334E-5 41551 0 3.99715E-6
17-67148235-G-A p.Ala1449Val missense ABCA10 1 83174 1.2023E-5 41587 0 NA
17-67148249-A-G p.Pro1444Pro synonymous ABCA10 1 83230 1.20149E-5 41615 0 NA
17-67148259-A-AT p.Met1441fs frameshift ABCA10 5 83228 6.00759E-5 41614 0 1.24224E-4
17-67148261-T-A p.Lys1440Asn missense ABCA10 2 83226 2.4031E-5 41613 0 NA
17-67148261-T-G p.Lys1440Asn missense ABCA10 1 83226 1.20155E-5 41613 0 NA
17-67148263-T-C p.Lys1440Glu missense ABCA10 2 83230 2.40298E-5 41615 0 NA
17-67148265-A-G p.Ile1439Thr missense ABCA10 1 83226 1.20155E-5 41613 0 NA
17-67148273-T-C p.Leu1436Leu synonymous ABCA10 4 83232 4.80584E-5 41616 0 5.03525E-4
17-67148278-A-C p.Tyr1435Asp missense ABCA10 3 83230 3.60447E-5 41615 0 9.55231E-5
17-67148284-T-C p.Arg1433Gly missense ABCA10 1 83220 1.20163E-5 41610 0 1.19821E-5
17-67148290-A-G p.Phe1431Leu missense ABCA10 1 83214 1.20172E-5 41607 0 3.99968E-6
17-67148304-T-C p.His1426Arg missense ABCA10 1 83176 1.20227E-5 41588 0 NA
17-67148306-T-G p.Gln1425His missense ABCA10 1 83180 1.20221E-5 41590 0 NA
17-67148307-T-G p.Gln1425Pro missense ABCA10 1 83174 1.2023E-5 41587 0 NA
17-67148327-A-C c.4257-3T>G splice_region ABCA10 7 83132 8.42034E-5 41566 0 5.59862E-5
17-67148508-C-T p.Thr1417Thr synonymous ABCA10 2 83176 2.40454E-5 41588 0 2.49112E-5
17-67148509-G-A p.Thr1417Met missense ABCA10 1 83186 1.20213E-5 41593 0 1.27535E-4
17-67148517-C-T p.Val1414Val synonymous ABCA10 1 83178 1.20224E-5 41589 0 3.99355E-6
17-67148520-C-T p.Met1413Ile missense ABCA10 1 83198 1.20195E-5 41599 0 3.18593E-5
17-67148523-C-T p.Met1412Ile missense ABCA10 1 83200 1.20192E-5 41600 0 NA
17-67148525-T-G p.Met1412Leu missense ABCA10 1 83208 1.20181E-5 41604 0 1.65243E-5
17-67148525-T-A p.Met1412Leu missense ABCA10 1 83208 1.20181E-5 41604 0 2.7918E-5
17-67148533-C-T p.Arg1409His missense ABCA10 1 83208 1.20181E-5 41604 0 7.57908E-5
17-67148553-C-T p.Glu1402Glu synonymous ABCA10 3 83140 3.60837E-5 41570 0 7.96521E-6
17-67148560-A-G p.Met1400Thr missense ABCA10 1 83154 1.20259E-5 41577 0 3.18613E-5
17-67148567-G-T p.His1398Asn missense ABCA10 2 83132 2.40581E-5 41566 0 3.18573E-5
17-67148572-G-A p.Thr1396Ile missense ABCA10 1 83112 1.2032E-5 41556 0 6.37024E-5
17-67148587-C-T p.Arg1391Lys missense ABCA10 1 83078 1.20369E-5 41539 0 NA
17-67148589-C-T p.Glu1390Glu synonymous ABCA10 1 83086 1.20357E-5 41543 0 NA
17-67148602-A-T p.Val1386Asp missense ABCA10 1 83072 1.20378E-5 41536 0 3.99119E-6
17-67148603-C-T p.Val1386Ile missense ABCA10 5 83064 6.01946E-5 41532 0 6.37471E-5
17-67148604-G-A p.Thr1385Thr synonymous ABCA10 1 83058 1.20398E-5 41529 0 1.6556E-5
17-67148621-G-A p.Gln1380* stop_gained ABCA10 1 83010 1.20467E-5 41505 0 NA
17-67148622-C-T p.Trp1379* stop_gained ABCA10 1 82986 1.20502E-5 41493 0 NA
17-67148623-CTAAAGA-C c.4137-7_4137-2delTCTTTA splice_acceptor ABCA10 3 82986 3.61507E-5 41493 0 8.19135E-6
17-67148630-T-C c.4137-8A>G splice_region ABCA10 1 82958 1.20543E-5 41479 0 8.33757E-6
17-67149451-T-C p.Gln1377Gln synonymous ABCA10 1 83344 1.19985E-5 41672 0 1.69768E-5
17-67149458-T-C p.Gln1375Arg missense ABCA10 1 83348 1.19979E-5 41674 0 NA
17-67149465-C-T p.Glu1373Lys missense ABCA10 6 83340 7.19942E-5 41670 0 3.1841E-5
17-67149474-T-A p.Met1370Leu missense ABCA10 2 83320 2.40038E-5 41660 0 8.35589E-6
17-67149477-C-A p.Gly1369Trp missense ABCA10 6 83320 7.20115E-5 41660 0 6.36821E-5
17-67149478-G-C p.Thr1368Thr synonymous ABCA10 4 83322 4.80065E-5 41661 0 1.35913E-4
17-67149478-G-A p.Thr1368Thr synonymous ABCA10 3 83322 3.60049E-5 41661 0 5.00734E-5
17-67149480-TGAAC-T p.Phe1367fs frameshift ABCA10 1 83318 1.20022E-5 41659 0 NA
17-67149483-A-G p.Phe1367Leu missense ABCA10 1 83310 1.20034E-5 41655 0 7.98952E-6
17-67149484-C-T p.Pro1366Pro synonymous ABCA10 771 83300 0.0092557 41650 18 0.0182779
17-67149491-T-C p.Asp1364Gly missense ABCA10 2 83312 2.40061E-5 41656 0 2.49352E-5
17-67149492-C-G p.Asp1364His missense ABCA10 1 83316 1.20025E-5 41658 0 NA
17-67149500-A-G p.Val1361Ala missense ABCA10 3 83288 3.60196E-5 41644 0 NA
17-67149504-C-T p.Val1360Met missense ABCA10 1 83272 1.20088E-5 41636 0 8.29683E-6
17-67149510-G-T p.Pro1358Thr missense ABCA10 2 83256 2.40223E-5 41628 0 8.29311E-6
17-67149513-TC-T p.Asn1357fs frameshift ABCA10 9 83256 1.081E-4 41628 0 NA
17-67149513-T-A p.Asn1357Tyr missense ABCA10 1 83256 1.20111E-5 41628 0 8.29174E-6
17-67149514-C-T p.Gly1356Gly synonymous ABCA10 1 83262 1.20103E-5 41631 0 2.48748E-5
17-67149522-T-A p.Ile1354Phe missense ABCA10 1 83238 1.20137E-5 41619 0 3.99112E-6
17-67149527-A-C p.Ter1327Glyext*? stop_lost ABCA10 1 83234 1.20143E-5 41617 0 NA
17-67149533-A-G p.Phe1350Ser missense ABCA10 1 83210 1.20178E-5 41605 0 1.197E-5
17-67149540-G-C p.Leu1348Val missense+splice_region ABCA10 10 83204 1.20187E-4 41602 0 4.13986E-4
17-67149547-T-C c.4042-7A>G splice_region ABCA10 15 83186 1.80319E-4 41593 0 5.41815E-4
17-67149606-C-A c.4041+6G>T splice_region ABCA10 4 83066 4.81545E-5 41533 2 1.64902E-5
17-67149613-T-C p.Lys1347Arg missense+splice_region ABCA10 1 83072 1.20378E-5 41536 0 8.24606E-6
17-67149616-C-T p.Arg1346Lys missense ABCA10 2 83088 2.40709E-5 41544 0 1.59276E-4
17-67149625-C-G p.Gly1343Ala missense ABCA10 1 83084 1.2036E-5 41542 0 8.24688E-6
17-67149633-T-A p.Leu1340Leu synonymous ABCA10 55 83086 6.61965E-4 41543 0 6.48808E-4
17-67149647-G-T p.Pro1336Thr missense ABCA10 1 83082 1.20363E-5 41541 0 3.18593E-5
17-67149648-A-G p.Ala1335Ala synonymous ABCA10 1 83084 1.2036E-5 41542 0 NA
17-67149653-T-G p.Lys1334Gln missense ABCA10 1 83094 1.20346E-5 41547 0 8.2545E-6
17-67149656-G-A p.Leu1333Phe missense ABCA10 1 83084 1.2036E-5 41542 0 NA
17-67149663-C-G p.Gln1330His missense ABCA10 5 83066 6.01931E-5 41533 0 6.37105E-5
17-67149666-G-A p.Leu1329Leu synonymous ABCA10 287 83054 0.00345558 41527 2 0.00272741
17-67149669-C-T p.Lys1328Lys synonymous ABCA10 1 83052 1.20406E-5 41526 0 3.18431E-5
17-67149965-T-C c.3965+7A>G splice_region ABCA10 2 83022 2.409E-5 41511 0 2.53297E-5
17-67149966-CTG-C c.3965+4_3965+5delCA splice_region ABCA10 2 83028 2.40883E-5 41514 0 4.03574E-6
17-67149972-C-T p.Arg1322Gln missense+splice_region ABCA10 1271 83010 0.0153114 41505 19 0.0113803
17-67149972-CG-TA p.Arg1322* stop_gained ABCA10 1 83034 1.20433E-5 41517 0 NA
17-67149973-G-A p.Arg1322* stop_gained ABCA10 5715 82894 0.0689435 41447 268 0.09625
17-67149974-T-C p.Ser1321Ser splice_region+synonymous ABCA10 1 83052 1.20406E-5 41526 0 8.35562E-6
17-67149989-A-T p.Ala1316Ala synonymous ABCA10 1 83072 1.20378E-5 41536 0 NA
17-67149992-A-G p.Asp1315Asp synonymous ABCA10 3 83066 3.61159E-5 41533 0 NA
17-67150002-C-G p.Gly1312Ala missense ABCA10 2 83090 2.40703E-5 41545 0 8.25846E-6
17-67150011-T-C p.Lys1309Arg missense ABCA10 1 83096 1.20343E-5 41548 0 2.42842E-4
17-67150022-A-G p.Tyr1305Tyr synonymous ABCA10 1 83062 1.20392E-5 41531 0 1.19413E-5
17-67150028-C-A p.Glu1303Asp missense ABCA10 1 83052 1.20406E-5 41526 0 NA
17-67150032-A-G p.Leu1302Ser missense ABCA10 1 83032 1.20435E-5 41516 0 7.96052E-6
17-67150046-T-C p.Thr1297Thr synonymous ABCA10 2 83016 2.40917E-5 41508 0 1.99024E-5
17-67150052-C-T p.Lys1295Lys synonymous ABCA10 1 82998 1.20485E-5 41499 0 NA
17-67150057-G-A p.Pro1294Ser missense ABCA10 1 82986 1.20502E-5 41493 0 NA
17-67150058-C-T p.Trp1293* stop_gained ABCA10 1 82976 1.20517E-5 41488 0 2.4717E-5
17-67150062-A-C p.Leu1292Arg missense ABCA10 1 82982 1.20508E-5 41491 0 NA
17-67150063-G-A p.Leu1292Leu synonymous ABCA10 1 82980 1.20511E-5 41490 0 NA
17-67150079-G-A p.Cys1286Cys synonymous ABCA10 2 82948 2.41115E-5 41474 0 1.19435E-5
17-67150082-G-A p.Tyr1285Tyr synonymous ABCA10 1 82928 1.20587E-5 41464 0 3.18715E-5
17-67150084-A-AC p.Tyr1285fs frameshift ABCA10 4 82930 4.82335E-5 41465 0 NA
17-67150086-C-G p.Gly1284Ala missense ABCA10 2 82922 2.41191E-5 41461 0 NA
17-67150094-C-G p.Lys1281Asn missense ABCA10 1 82974 1.2052E-5 41487 0 9.55657E-5
17-67150110-T-C p.His1276Arg missense ABCA10 1 82940 1.20569E-5 41470 0 NA
17-67150118-C-T p.Arg1273Arg synonymous ABCA10 5742 82824 0.0693277 41412 282 0.09625
17-67150121-T-C p.Val1272Val synonymous ABCA10 2 82916 2.41208E-5 41458 0 7.43065E-5
17-67150136-G-C p.Gly1267Gly synonymous ABCA10 389 82848 0.00469535 41424 6 0.00811998
17-67150144-A-C p.Leu1265Val missense ABCA10 4 82810 4.83033E-5 41405 0 1.19773E-5
17-67150151-C-T c.3787-1G>A splice_acceptor ABCA10 14 82774 1.69135E-4 41387 0 9.7729E-4
17-67150373-T-C c.3786+3A>G splice_region ABCA10 1 82936 1.20575E-5 41468 0 NA
17-67150383-GC-AG p.Ala1260Leu missense ABCA10 1 82966 1.20531E-5 41483 0 NA
17-67150386-G-C p.Thr1259Ser missense ABCA10 2 82990 2.40993E-5 41495 0 NA
17-67150387-T-C p.Thr1259Ala missense ABCA10 1 82990 1.20496E-5 41495 0 5.77911E-5
17-67150388-T-A p.Pro1258Pro synonymous ABCA10 2 82994 2.40981E-5 41497 0 6.37146E-5
17-67150395-G-C p.Thr1256Arg missense ABCA10 2 83034 2.40865E-5 41517 0 3.18654E-5
17-67150398-C-T p.Cys1255Tyr missense ABCA10 1 83032 1.20435E-5 41516 0 4.80939E-5
17-67150409-C-G p.Met1251Ile missense ABCA10 5 83046 6.02076E-5 41523 1 3.18532E-5
17-67150411-T-C p.Met1251Val missense ABCA10 2 83040 2.40848E-5 41520 0 NA
17-67150425-C-CTT p.Ser1246fs frameshift ABCA10 1 83018 1.20456E-5 41509 0 NA
17-67150435-C-T p.Ala1243Thr missense ABCA10 1 82966 1.20531E-5 41483 0 NA
17-67150439-A-G p.Asn1241Asn synonymous ABCA10 2 82950 2.41109E-5 41475 0 3.20821E-5
17-67150444-G-A p.His1240Tyr missense ABCA10 1 82910 1.20613E-5 41455 0 NA
17-67150451-T-C p.Leu1237Leu synonymous ABCA10 1 82872 1.20668E-5 41436 0 8.29449E-6
17-67150465-C-CACCTGGAA p.Glu1233fs frameshift ABCA10 3594 82448 0.0435911 41224 460 0.0876509
17-67151152-GT-G c.3694+7delA splice_region ABCA10 1 82398 1.21362E-5 41199 0 NA
17-67151154-T-C c.3694+6A>G splice_region ABCA10 4 82442 4.8519E-5 41221 0 6.1763E-5
17-67151158-AC-A c.3694+1delG splice_donor ABCA10 1 82498 1.21215E-5 41249 0 NA
17-67151159-C-A c.3694+1G>T splice_donor ABCA10 1 82512 1.21194E-5 41256 0 NA
17-67151160-C-CT p.Gly1232fs frameshift ABCA10 12 82540 1.45384E-4 41270 0 2.55232E-4
17-67151167-AAC-A p.Val1229fs frameshift ABCA10 13 82634 1.5732E-4 41317 0 1.59215E-4
17-67151175-A-C p.Phe1227Val missense ABCA10 1 82732 1.20872E-5 41366 0 NA
17-67151193-C-T p.Ala1221Thr missense ABCA10 1 82858 1.20688E-5 41429 0 1.78075E-5
17-67151201-T-C p.Lys1218Arg missense ABCA10 2 82910 2.41225E-5 41455 0 NA
17-67151207-C-A p.Arg1216Ile missense ABCA10 411 82922 0.00495647 41461 2 0.00456497
17-67151257-G-C p.Ser1199Arg missense ABCA10 1 82940 1.20569E-5 41470 0 NA
17-67151938-C-T c.3576+8G>A splice_region ABCA10 1 83160 1.2025E-5 41580 0 8.24538E-6
17-67151940-G-A c.3576+6C>T splice_region ABCA10 15 83158 1.8038E-4 41579 0 0.001875
17-67151958-T-C p.Pro1188Pro synonymous ABCA10 1 83168 1.20239E-5 41584 0 NA
17-67151965-G-C p.Thr1186Ser missense ABCA10 387 83166 0.00465334 41583 6 0.00812257
17-67151966-T-C p.Thr1186Ala missense ABCA10 1 83174 1.2023E-5 41587 0 8.23886E-6
17-67151969-G-A p.Leu1185Phe missense ABCA10 14 83174 1.68322E-4 41587 0 4.53757E-4
17-67151989-C-CTTTAATA p.Arg1178fs frameshift ABCA10 1 83184 1.20215E-5 41592 0 NA
17-67151993-C-CTATTTAT p.Glu1177fs frameshift ABCA10 1 83180 1.20221E-5 41590 0 NA
17-67152009-A-G p.Asp1171Asp synonymous ABCA10 16 83150 1.92423E-4 41575 0 4.4603E-4
17-67152009-ATCT-A p.Glu1170del disruptive_inframe_deletion ABCA10 1 83150 1.20265E-5 41575 0 3.29544E-5
17-67152014-C-G p.Glu1170Gln missense ABCA10 1 83128 1.20296E-5 41564 0 NA
17-67152019-TC-CA p.Glu1168* stop_gained ABCA10 2 83100 2.40674E-5 41550 0 NA
17-67152020-C-T p.Glu1168Lys missense ABCA10 19 83074 2.28712E-4 41537 0 1.91107E-4
17-67152021-G-A p.Pro1167Pro synonymous ABCA10 1 83054 1.20404E-5 41527 0 1.19476E-5
17-67152024-C-T p.Glu1166Glu synonymous ABCA10 4 83048 4.81649E-5 41524 0 1.87153E-4
17-67152030-C-T p.Pro1164Pro synonymous ABCA10 16 83004 1.92762E-4 41502 0 8.40502E-4
17-67152031-G-A p.Pro1164Leu missense ABCA10 5 82984 6.02526E-5 41492 0 5.03525E-4
17-67152038-G-A p.Pro1162Ser missense ABCA10 1 82958 1.20543E-5 41479 0 NA
17-67152043-G-C p.Thr1160Ser missense ABCA10 15 82924 1.80889E-4 41462 0 0.00100705
17-67152046-T-G p.Glu1159Ala missense ABCA10 2 82910 2.41225E-5 41455 0 1.91095E-4
17-67152981-T-C p.Pro1149Pro synonymous ABCA10 159 81674 0.00194676 40837 1 0.00297778
17-67152989-T-C p.Lys1147Glu missense ABCA10 2 81966 2.44004E-5 40983 0 NA
17-67152992-T-G p.Asn1146His missense ABCA10 2 82034 2.43801E-5 41017 0 8.71391E-5
17-67153004-T-C p.Asn1142Asp missense ABCA10 1 82214 1.21634E-5 41107 0 NA
17-67153011-C-T p.Lys1139Lys synonymous ABCA10 1 82208 1.21643E-5 41104 0 NA
17-67153032-G-T p.Val1132Val synonymous ABCA10 2 82256 2.43143E-5 41128 0 NA
17-67153051-C-T p.Ser1126Asn missense ABCA10 26 82000 3.17073E-4 41000 1 0.00251762
17-67153057-AGG-A p.Leu1124fs frameshift ABCA10 1 81944 1.22035E-5 40972 0 NA
17-67153060-TATGGCTAAAAGAAAAGAAAA-T p.Pro1122fs frameshift ABCA10 1 81768 1.22297E-5 40884 0 NA
17-67153064-G-C p.Pro1122Ala missense+splice_region ABCA10 1 81634 1.22498E-5 40817 0 1.40099E-4
17-67153067-A-G c.3364-3T>C splice_region ABCA10 1 81560 1.22609E-5 40780 0 NA
17-67153071-G-T c.3364-7C>A splice_region ABCA10 8 81432 9.82415E-5 40716 0 7.33503E-5
17-67160214-C-T c.3363+1G>A splice_donor ABCA10 1 81598 1.22552E-5 40799 0 NA
17-67160217-T-C p.Ile1121Val missense+splice_region ABCA10 1 81736 1.22345E-5 40868 0 3.18532E-5
17-67160234-ATGGTTTTAT-A p.Asn1112_Thr1114del disruptive_inframe_deletion ABCA10 3 82134 3.65257E-5 41067 0 2.86716E-4
17-67160241-T-C p.Lys1113Glu missense ABCA10 1 82320 1.21477E-5 41160 0 NA
17-67160252-T-C p.Asn1109Ser missense ABCA10 1 82398 1.21362E-5 41199 0 NA
17-67160255-A-T p.Ile1108Lys missense ABCA10 2 82436 2.42612E-5 41218 0 1.66898E-5
17-67160265-C-A p.Asp1105Tyr missense ABCA10 1 82426 1.21321E-5 41213 0 NA
17-67160268-G-A p.Leu1104Leu synonymous ABCA10 1 82404 1.21353E-5 41202 0 NA
17-67160293-G-A p.Leu1095Leu splice_region+synonymous ABCA10 2 82020 2.43843E-5 41010 0 8.39913E-6
17-67160298-G-GA c.3283-4_3283-3insT splice_region ABCA10 1 82152 1.21726E-5 41076 0 1.55892E-4
17-67160301-A-G c.3283-6T>C splice_region ABCA10 1 82214 1.21634E-5 41107 0 NA
17-67161098-T-G c.3282+7A>C splice_region ABCA10 2 82698 2.41844E-5 41349 0 8.25955E-6
17-67161106-T-A p.Gln1094Leu missense+splice_region ABCA10 1 82746 1.20852E-5 41373 0 0.00125
17-67161106-T-C p.Gln1094Arg missense+splice_region ABCA10 1 82746 1.20852E-5 41373 0 8.25559E-6
17-67161107-G-C p.Gln1094Glu missense+splice_region ABCA10 202 82748 0.00244115 41374 1 0.00194826
17-67161117-C-G p.Met1090Ile missense ABCA10 1 82790 1.20788E-5 41395 0 NA
17-67161118-A-G p.Met1090Thr missense ABCA10 2 82802 2.4154E-5 41401 0 NA
17-67161124-T-C p.Tyr1088Cys missense ABCA10 5 82800 6.03865E-5 41400 0 1.59418E-5
17-67161132-C-A p.Leu1085Phe missense ABCA10 1 82814 1.20753E-5 41407 0 NA
17-67161155-T-A p.Ile1078Phe missense ABCA10 2 82848 2.41406E-5 41424 0 6.25E-4
17-67161166-ATTAAG-A p.Leu1073fs frameshift ABCA10 3 82842 3.62135E-5 41421 0 3.58734E-5
17-67161169-A-G p.Leu1073Ser missense ABCA10 1 82844 1.20709E-5 41422 0 8.29696E-6
17-67161176-G-A p.Leu1071Phe missense ABCA10 1 82832 1.20726E-5 41416 0 8.32556E-6
17-67161182-C-T p.Glu1069Lys missense ABCA10 2 82834 2.41447E-5 41417 0 3.98854E-6
17-67161186-T-C p.Gln1067Gln synonymous ABCA10 1 82820 1.20744E-5 41410 0 8.40986E-6
17-67161215-A-G p.Cys1058Arg missense ABCA10 1 82676 1.20954E-5 41338 0 NA
17-67161222-G-T p.Ile1055Ile splice_region+synonymous ABCA10 1 82602 1.21062E-5 41301 0 NA
17-67161228-G-GA c.3163-5_3163-4insT splice_region ABCA10 2 82506 2.42407E-5 41253 0 3.19918E-5
17-67161228-GA-G c.3163-5delT splice_region ABCA10 1 82506 1.21203E-5 41253 0 NA
17-67170401-CACGCATGTATATATACTT-C c.3162+3_3162+20delAAGTATATATACATGCGT splice_region ABCA10 2 81464 2.45507E-5 40732 0 NA
17-67170414-A-G c.3162+8T>C splice_region ABCA10 2 82684 2.41885E-5 41342 0 3.44581E-4
17-67170418-T-G c.3162+4A>C splice_region ABCA10 1 82732 1.20872E-5 41366 0 3.18857E-5
17-67170426-A-C p.Phe1053Cys missense ABCA10 7 82864 8.44758E-5 41432 0 1.28414E-5
17-67170445-A-G p.Phe1047Leu missense ABCA10 2 83022 2.409E-5 41511 0 4.08637E-6
17-67170459-C-T p.Arg1042Lys missense ABCA10 1 83052 1.20406E-5 41526 0 4.05709E-6
17-67170468-C-T p.Arg1039His missense ABCA10 7 83066 8.42703E-5 41533 0 6.62021E-5
17-67170479-T-G p.Ser1035Ser synonymous ABCA10 32 83056 3.85282E-4 41528 0 0.00111543
17-67170491-T-A p.Thr1031Thr synonymous ABCA10 1 83030 1.20438E-5 41515 0 NA
17-67170501-A-G p.Ile1028Thr missense ABCA10 3 82978 3.61542E-5 41489 0 3.18492E-5
17-67170514-C-T p.Ala1024Thr missense ABCA10 1 82900 1.20627E-5 41450 0 NA
17-67170519-C-T p.Gly1022Asp missense ABCA10 29 82882 3.49895E-4 41441 0 8.60475E-4
17-67170530-T-C p.Val1018Val synonymous ABCA10 2 82794 2.41563E-5 41397 0 3.18552E-5
17-67170530-T-G p.Val1018Val synonymous ABCA10 5 82794 6.03908E-5 41397 0 6.64717E-5
17-67170533-C-T p.Val1017Val splice_region+synonymous ABCA10 1 82772 1.20814E-5 41386 0 4.38639E-6
17-67170536-C-T c.3049-1G>A splice_acceptor ABCA10 1 82736 1.20866E-5 41368 0 NA
17-67170696-TTCATTTTGATTCTACTATTATAATTGGCTTGTGGAAAAAATGATCACTTACCAAAACAAA-T p.Phe1014_Leu1016del splice_donor ABCA10 1 81608 1.22537E-5 40804 0 NA
17-67170742-A-C c.3048+6T>G splice_region ABCA10 2 82552 2.42272E-5 41276 0 NA
17-67170755-A-G p.Phe1014Ser missense ABCA10 1 82700 1.20919E-5 41350 0 8.58915E-6
17-67170759-T-A p.Met1013Leu missense ABCA10 1 82694 1.20928E-5 41347 0 NA
17-67170762-G-A p.Leu1012Phe missense ABCA10 3 82670 3.62889E-5 41335 0 4.1791E-6
17-67170783-C-T p.Gly1005Arg missense ABCA10 1 82724 1.20884E-5 41362 0 NA
17-67170799-G-C p.Tyr999* stop_gained ABCA10 2 82836 2.41441E-5 41418 0 1.59297E-4
17-67170800-T-C p.Tyr999Cys missense ABCA10 1 82842 1.20712E-5 41421 0 NA
17-67170807-A-G p.Leu997Leu synonymous ABCA10 1 82860 1.20685E-5 41430 0 2.49422E-5
17-67170809-T-C p.His996Arg missense ABCA10 3 82868 3.62022E-5 41434 0 3.18593E-5
17-67170812-A-G p.Ile995Thr missense ABCA10 3 82874 3.61995E-5 41437 0 3.32358E-5
17-67170825-T-A p.Ile991Phe missense ABCA10 1 82930 1.20584E-5 41465 0 NA
17-67170832-G-A p.Tyr988Tyr synonymous ABCA10 3 82966 3.61594E-5 41483 0 7.98971E-6
17-67170836-A-C p.Leu987* stop_gained ABCA10 7 82992 8.43455E-5 41496 0 1.27437E-4
17-67170838-T-C p.Pro986Pro synonymous ABCA10 7 82986 8.43516E-5 41493 0 2.23029E-4
17-67170841-A-C p.Ile985Met missense ABCA10 7 82970 8.43678E-5 41485 0 5.04032E-4
17-67170856-C-G p.Gln980His missense ABCA10 1 82968 1.20528E-5 41484 0 NA
17-67170860-C-T p.Gly979Glu missense ABCA10 1 82968 1.20528E-5 41484 0 4.00157E-6
17-67170863-C-T p.Cys978Tyr missense ABCA10 1 82958 1.20543E-5 41479 0 1.66423E-5
17-67170868-G-A p.Tyr976Tyr synonymous ABCA10 1 82834 1.20723E-5 41417 0 1.6652E-4
17-67170870-A-G p.Tyr976His missense ABCA10 1 82838 1.20718E-5 41419 0 2.498E-5
17-67170883-G-A p.Leu971Leu synonymous ABCA10 1 82760 1.20831E-5 41380 0 NA
17-67170885-G-C p.Leu971Val missense ABCA10 3 82744 3.62564E-5 41372 0 1.83143E-4
17-67170888-C-A p.Gly970Cys missense ABCA10 1 82652 1.20989E-5 41326 0 NA
17-67170902-T-G p.Gln965Pro missense ABCA10 6 82530 7.27008E-5 41265 0 6.72846E-5
17-67170905-G-C p.Ser964Cys missense ABCA10 1 82366 1.21409E-5 41183 0 NA
17-67170912-C-T p.Val962Ile missense ABCA10 1 82300 1.21507E-5 41150 0 3.18573E-5
17-67170924-A-G c.2878-6T>C splice_region ABCA10 3 82046 3.65649E-5 41023 0 3.18634E-5
17-67171535-TCTCC-T c.2877+8_2877+11delGGAG splice_region ABCA10 2 82652 2.41978E-5 41326 0 8.69747E-6
17-67171537-TCC-CCT c.2877+8_2877+10delGGAinsAGG splice_region ABCA10 1 82672 1.2096E-5 41336 0 NA
17-67171539-C-T c.2877+8G>A splice_region ABCA10 1 82724 1.20884E-5 41362 0 NA
17-67171541-TCTTA-T c.2877+2_2877+5delTAAG splice_donor ABCA10 1 82752 1.20843E-5 41376 0 NA
17-67171566-C-T p.Ser953Asn missense ABCA10 1 82908 1.20616E-5 41454 0 NA
17-67171571-G-T p.Gly951Gly synonymous ABCA10 1 82914 1.20607E-5 41457 0 NA
17-67171573-C-T p.Gly951Ser missense ABCA10 4 82914 4.82428E-5 41457 0 6.37146E-5
17-67171574-G-A p.Ile950Ile synonymous ABCA10 1 82904 1.20621E-5 41452 0 3.18613E-5
17-67171580-A-G p.Pro948Pro synonymous ABCA10 1 82962 1.20537E-5 41481 0 NA
17-67171587-AC-A p.Val946fs frameshift ABCA10 5 82978 6.02569E-5 41489 0 9.55414E-5
17-67171588-C-T p.Val946Ile missense ABCA10 6 82964 7.23205E-5 41482 0 6.62669E-5
17-67171589-G-A p.Cys945Cys synonymous ABCA10 2 82950 2.41109E-5 41475 0 2.48505E-5
17-67171589-G-T p.Cys945* stop_gained ABCA10 2 82952 2.41103E-5 41476 0 6.37511E-5
17-67171593-T-C p.Asn944Ser missense ABCA10 13 82968 1.56687E-4 41484 0 2.54842E-4
17-67171609-A-T p.Leu939Met missense ABCA10 1 82976 1.20517E-5 41488 0 NA
17-67171632-C-G p.Gly931Ala missense ABCA10 3 82926 3.61768E-5 41463 0 NA
17-67171642-G-A p.Leu928Leu synonymous ABCA10 15 82870 1.81006E-4 41435 0 0.00100705
17-67171643-C-T p.Val927Val synonymous ABCA10 1 82860 1.20685E-5 41430 0 NA
17-67171648-T-C p.Ile926Val missense ABCA10 1 82826 1.20735E-5 41413 0 3.18492E-5
17-67171758-A-G n.163+2T>C splice_donor ABCA10 1 72382 1.38156E-5 36191 0 NA
17-67175150-T-C c.*1609-1A>G splice_acceptor ABCA10 5 6 0.833333 3 2 0.565298
17-67178288-A-G c.2769+6T>C splice_region ABCA10 2 81038 2.46798E-5 40519 0 6.38896E-5
17-67178296-G-C p.Arg923Gly missense+splice_region ABCA10 3 81250 3.69231E-5 40625 0 3.36905E-5
17-67178298-G-C p.Ser922Cys missense ABCA10 1 81328 1.22959E-5 40664 0 NA
17-67178315-C-T p.Met916Ile missense ABCA10 2 81856 2.44332E-5 40928 0 4.30344E-5
17-67178316-A-G p.Met916Thr missense ABCA10 58341 80612 0.723726 40306 21295 0.746049
17-67178319-T-G p.Gln915Pro missense ABCA10 2 81982 2.43956E-5 40991 0 4.29598E-6
17-67178321-A-G p.Ile914Ile synonymous ABCA10 1 82076 1.21838E-5 41038 0 NA
17-67178326-G-A p.Leu913Phe missense ABCA10 1 82208 1.21643E-5 41104 0 8.49675E-6
17-67178332-T-G p.Thr911Pro missense ABCA10 1 82344 1.21442E-5 41172 0 7.45181E-5
17-67178346-C-T p.Gly906Glu missense ABCA10 1 82584 1.21089E-5 41292 0 8.27636E-6
17-67178373-A-G p.Met897Thr missense ABCA10 33 82738 3.98849E-4 41369 0 0.00170881
17-67178381-A-T p.Pro894Pro synonymous ABCA10 2 82604 2.42119E-5 41302 0 NA
17-67178382-G-A p.Pro894Leu missense ABCA10 1 82582 1.21092E-5 41291 0 3.19326E-5
17-67178407-T-G p.Asn886His missense ABCA10 2 82306 2.42996E-5 41153 0 9.25463E-6
17-67178411-C-T p.Ala884Ala synonymous ABCA10 4 82168 4.86808E-5 41084 0 5.05561E-4
17-67178412-G-A p.Ala884Val missense ABCA10 5 81534 6.13241E-5 40767 0 0.00101112
17-67178412-G-C p.Ala884Gly missense ABCA10 2 81534 2.45296E-5 40767 0 NA
17-67178422-A-T p.Phe881Ile missense ABCA10 24 81512 2.94435E-4 40756 0 7.6555E-4
17-67178432-C-T c.2632-1G>A splice_acceptor ABCA10 1 81132 1.23256E-5 40566 0 NA
17-67178434-T-TG c.2632-4_2632-3insC splice_region ABCA10 2 80954 2.47054E-5 40477 0 1.19136E-5
17-67178434-T-A c.2632-3A>T splice_region ABCA10 2 80956 2.47048E-5 40478 0 1.19136E-5
17-67178435-G-GA c.2632-5_2632-4insT splice_region ABCA10 13 80888 1.60716E-4 40444 0 4.56621E-4
17-67178811-C-T c.2631+5G>A splice_region ABCA10 1 81992 1.21963E-5 40996 0 NA
17-67178813-T-C c.2631+3A>G splice_region ABCA10 101 82018 0.00123144 41009 0 0.00261071
17-67178814-A-G c.2631+2T>C splice_donor ABCA10 1 82044 1.21886E-5 41022 0 NA
17-67178815-C-A c.2631+1G>T splice_donor ABCA10 1 82034 1.21901E-5 41017 0 NA
17-67178816-C-T p.Lys877Lys splice_region+synonymous ABCA10 1 82090 1.21818E-5 41045 0 NA
17-67178835-A-G p.Ile871Thr missense ABCA10 1 82462 1.21268E-5 41231 0 NA
17-67178841-G-T p.Ala869Asp missense ABCA10 1 82518 1.21186E-5 41259 0 3.30213E-5
17-67178846-A-C p.Asn867Lys missense ABCA10 2 82628 2.42049E-5 41314 0 NA
17-67178847-T-C p.Asn867Ser missense ABCA10 1 82638 1.2101E-5 41319 0 4.00141E-6
17-67178849-G-T p.Tyr866* stop_gained ABCA10 1 82660 1.20978E-5 41330 0 9.65003E-5
17-67178855-G-A p.Pro864Pro synonymous ABCA10 1 82756 1.20837E-5 41378 0 NA
17-67178859-T-G p.Asp863Ala missense ABCA10 21 82812 2.53586E-4 41406 0 1.60761E-4
17-67178859-T-A p.Asp863Val missense ABCA10 1 82812 1.20755E-5 41406 0 6.43045E-5
17-67178870-A-G p.Asn859Asn synonymous ABCA10 2 82976 2.41034E-5 41488 0 1.60041E-4
17-67178887-CA-C p.Asp853fs frameshift ABCA10 1 83114 1.20317E-5 41557 0 NA
17-67178897-C-T p.Leu850Leu synonymous ABCA10 2 83136 2.4057E-5 41568 0 NA
17-67178899-A-C p.Leu850Val missense ABCA10 1 83142 1.20276E-5 41571 0 1.64875E-5
17-67178929-C-G p.Val840Leu missense ABCA10 23 82920 2.77376E-4 41460 0 0.004375
17-67178929-C-T p.Val840Met missense ABCA10 1 82920 1.20598E-5 41460 0 3.30246E-5
17-67178930-G-A p.Leu839Leu synonymous ABCA10 30 82942 3.61699E-4 41471 0 5.03525E-4
17-67178945-T-G p.Ser834Ser synonymous ABCA10 3 82764 3.62476E-5 41382 0 3.30841E-5
17-67178950-C-T c.2498-1G>A splice_acceptor ABCA10 2 82476 2.42495E-5 41238 0 NA
17-67178954-C-T c.2498-5G>A splice_region ABCA10 55541 78866 0.704245 39433 19710 0.722668
17-67178954-C-A c.2498-5G>T splice_region ABCA10 1 82272 1.21548E-5 41136 0 NA
17-67178954-CAT-C c.2498-7_2498-6delAT splice_region ABCA10 3 82272 3.64644E-5 41136 0 3.58218E-5
17-67181610-T-C c.2497+8A>G splice_region ABCA10 1 83052 1.20406E-5 41526 0 NA
17-67181619-T-G p.Thr832Thr splice_region+synonymous ABCA10 1 83206 1.20184E-5 41603 0 3.18512E-5
17-67181619-T-C p.Thr832Thr splice_region+synonymous ABCA10 2 83206 2.40367E-5 41603 0 1.66692E-5
17-67181630-C-T p.Val829Ile missense ABCA10 9 83242 1.08118E-4 41621 0 3.18756E-5
17-67181634-T-C p.Leu827Leu synonymous ABCA10 9 83236 1.08126E-4 41618 0 0.00299458
17-67181639-G-A p.Leu826Leu synonymous ABCA10 1 83254 1.20114E-5 41627 0 NA
17-67181658-C-T p.Pro819Pro synonymous ABCA10 1 83258 1.20109E-5 41629 0 7.9621E-6
17-67181660-G-A p.Pro819Ser missense ABCA10 1 83260 1.20106E-5 41630 0 1.65248E-5
17-67181663-T-A p.Ile818Phe missense ABCA10 1 83258 1.20109E-5 41629 0 NA
17-67181664-T-C p.Gln817Gln synonymous ABCA10 1 83256 1.20111E-5 41628 0 NA
17-67181671-AGAGAAAGGAAATACATACTG-A p.Ser809fs frameshift ABCA10 2 83256 2.40223E-5 41628 0 1.91071E-4
17-67181672-GAGA-G p.Ser814del conservative_inframe_deletion ABCA10 1 83256 1.20111E-5 41628 0 NA
17-67181686-A-C p.Met810Arg missense ABCA10 1 83254 1.20114E-5 41627 0 8.25437E-6
17-67181690-T-C p.Ser809Gly missense ABCA10 1 83248 1.20123E-5 41624 0 0.00100705
17-67181690-T-G p.Ser809Arg missense ABCA10 1 83248 1.20123E-5 41624 0 8.25437E-6
17-67181700-C-T p.Glu805Glu synonymous ABCA10 31 83220 3.72507E-4 41610 0 0.00130623
17-67181700-C-G p.Glu805Asp missense ABCA10 1 83224 1.20158E-5 41612 0 3.18593E-5
17-67181702-C-T p.Glu805Lys missense ABCA10 1 83216 1.20169E-5 41608 0 NA
17-67181713-G-A p.Thr801Ile missense ABCA10 1 83220 1.20163E-5 41610 0 1.19435E-5
17-67181719-C-T p.Arg799His missense ABCA10 47 83198 5.64917E-4 41599 0 0.00105129
17-67181720-G-A p.Arg799Cys missense ABCA10 2 83198 2.4039E-5 41599 0 1.81644E-4
17-67181738-T-C p.Ile793Val missense ABCA10 1 83158 1.20253E-5 41579 0 6.36983E-5
17-67181746-A-T p.Leu790Gln missense ABCA10 1 83124 1.20302E-5 41562 0 3.1837E-5
17-67181767-A-G p.Ile783Thr missense ABCA10 7 82962 8.4376E-5 41481 0 9.5511E-5
17-67181774-G-A p.Leu781Phe missense ABCA10 1 82822 1.20741E-5 41411 0 NA
17-67181786-T-C c.2331-2A>G splice_acceptor ABCA10 1 82450 1.21286E-5 41225 0 8.4448E-6
17-67181786-T-A c.2331-2A>T splice_acceptor ABCA10 3 82450 3.63857E-5 41225 1 NA
17-67181790-T-C c.2331-6A>G splice_region ABCA10 1 82282 1.21533E-5 41141 0 3.38908E-5
17-67183819-C-A c.2330+3G>T splice_region ABCA10 3 83242 3.60395E-5 41621 0 3.58449E-5
17-67183821-C-T c.2330+1G>A splice_donor ABCA10 4 83246 4.80504E-5 41623 0 2.47476E-5
17-67183846-C-T p.Arg769His missense ABCA10 1 83250 1.2012E-5 41625 0 1.56582E-4
17-67183847-G-A p.Arg769Cys missense ABCA10 2 83248 2.40246E-5 41624 0 1.19374E-5
17-67183864-C-T p.Arg763His missense ABCA10 1 83246 1.20126E-5 41623 0 3.97912E-6
17-67183865-G-C p.Arg763Gly missense ABCA10 16 83250 1.92192E-4 41625 1 1.51203E-4
17-67183865-G-A p.Arg763Cys missense ABCA10 5 83250 6.00601E-5 41625 0 6.37186E-5
17-67183874-C-T p.Ala760Thr missense ABCA10 2 83226 2.4031E-5 41613 0 3.29582E-5
17-67183876-A-G p.Val759Ala missense ABCA10 1 83218 1.20166E-5 41609 0 3.97871E-6
17-67183882-T-C p.Tyr757Cys missense ABCA10 2 83194 2.40402E-5 41597 0 3.18451E-5
17-67183883-A-G p.Tyr757His missense ABCA10 3 83194 3.60603E-5 41597 0 3.18492E-5
17-67183891-C-T p.Arg754Gln missense ABCA10 1 83196 1.20198E-5 41598 0 2.47231E-5
17-67183892-G-A p.Arg754* stop_gained ABCA10 8 83196 9.61585E-5 41598 0 5.35676E-4
17-67183893-T-G p.Arg753Ser missense ABCA10 3 83204 3.6056E-5 41602 0 2.78507E-5
17-67183923-T-C p.Arg743Arg synonymous ABCA10 1 83198 1.20195E-5 41599 0 NA
17-67183925-T-A p.Arg743* stop_gained ABCA10 1 83194 1.20201E-5 41597 0 4.77487E-5
17-67183926-T-G p.Thr742Thr synonymous ABCA10 1 83196 1.20198E-5 41598 0 NA
17-67183937-G-A p.Leu739Phe missense ABCA10 1 83196 1.20198E-5 41598 0 NA
17-67183939-G-T p.Ser738Tyr missense ABCA10 39 83198 4.68761E-4 41599 0 3.82507E-4
17-67183940-A-C p.Ser738Ala missense ABCA10 1 83200 1.20192E-5 41600 0 NA
17-67183948-AC-A p.Val735fs frameshift ABCA10 1 83220 1.20163E-5 41610 0 NA
17-67183948-A-G p.Val735Ala missense ABCA10 1 83220 1.20163E-5 41610 0 3.97924E-6
17-67183949-C-G p.Val735Leu missense ABCA10 1 83214 1.20172E-5 41607 0 NA
17-67183950-C-T p.Gln734Gln synonymous ABCA10 2 83216 2.40338E-5 41608 0 1.1938E-5
17-67183951-T-C p.Gln734Arg missense ABCA10 1 83222 1.20161E-5 41611 0 NA
17-67183953-T-C p.Glu733Glu synonymous ABCA10 7 83218 8.41164E-5 41609 0 5.77358E-5
17-67183971-T-C p.Gly727Gly synonymous ABCA10 1 83206 1.20184E-5 41603 0 NA
17-67183981-C-T p.Arg724Lys missense ABCA10 1 83190 1.20207E-5 41595 0 NA
17-67183981-CT-C p.Arg724fs frameshift ABCA10 1 83190 1.20207E-5 41595 0 1.65338E-5
17-67183982-T-C p.Arg724Gly missense ABCA10 1 83190 1.20207E-5 41595 0 3.98051E-6
17-67183984-G-A p.Thr723Ile missense ABCA10 7 83190 8.41447E-5 41595 0 9.5645E-5
17-67183994-T-A p.Ile720Leu missense ABCA10 1 83170 1.20236E-5 41585 0 NA
17-67184000-CTT-C p.Gln717fs frameshift ABCA10 3 83162 3.60742E-5 41581 0 1.91119E-4
17-67184002-T-C p.Gln717Arg missense ABCA10 1 83160 1.2025E-5 41580 0 2.78911E-5
17-67184008-C-A p.Gly715Val missense ABCA10 9 83130 1.08264E-4 41565 0 2.5481E-4
17-67186505-C-T p.Glu709Lys missense ABCA10 32 82452 3.88105E-4 41226 0 0.001875
17-67186505-C-G p.Glu709Gln missense ABCA10 1 82452 1.21283E-5 41226 0 5.17475E-6
17-67186527-T-G p.Leu701Leu synonymous ABCA10 2 82646 2.41996E-5 41323 0 NA
17-67186560-T-G p.Ser690Ser synonymous ABCA10 1 82802 1.2077E-5 41401 0 9.09316E-5
17-67186578-T-G p.Ile684Ile synonymous ABCA10 2 82788 2.41581E-5 41394 0 2.48012E-5
17-67186589-C-T p.Asp681Asn missense ABCA10 1 82730 1.20875E-5 41365 0 8.27061E-6
17-67186596-C-T p.Lys678Lys synonymous ABCA10 2 82704 2.41826E-5 41352 0 NA
17-67186600-T-A p.Asp677Val missense ABCA10 7 82662 8.46822E-5 41331 0 9.56023E-5
17-67186605-G-A p.Asp675Asp synonymous ABCA10 1 82620 1.21036E-5 41310 0 3.1902E-5
17-67186610-T-C p.Ser674Gly missense ABCA10 1 82586 1.21086E-5 41293 0 6.37308E-5
17-67186620-T-C c.2012-2A>G splice_acceptor ABCA10 13 82446 1.57679E-4 41223 0 5.56321E-4
17-67186623-A-G c.2012-5T>C splice_region ABCA10 4 82420 4.85319E-5 41210 0 NA
17-67187314-T-TA c.2011+2_2011+3insT splice_donor ABCA10 14 82122 1.70478E-4 41061 0 7.31422E-5
17-67187317-C-G p.Asp671His missense+splice_region ABCA10 3 82120 3.65319E-5 41060 0 3.18552E-5
17-67187318-T-C p.Pro670Pro splice_region+synonymous ABCA10 2 82148 2.43463E-5 41074 0 6.37105E-5
17-67187340-A-G p.Leu663Ser missense ABCA10 35 82264 4.25459E-4 41132 0 0.00213165
17-67187351-A-G p.Tyr659Tyr synonymous ABCA10 1 82594 1.21074E-5 41297 0 3.18492E-5
17-67187354-T-C p.Val658Val synonymous ABCA10 1 82600 1.21065E-5 41300 0 NA
17-67187359-G-A p.Leu657Phe missense ABCA10 1 82670 1.20963E-5 41335 0 4.07136E-6
17-67187383-A-G p.Leu649Leu synonymous ABCA10 1 82644 1.21001E-5 41322 0 NA
17-67187388-G-C p.Ala647Gly missense ABCA10 7 82630 8.4715E-5 41315 0 6.25391E-4
17-67187388-G-A p.Ala647Val missense ABCA10 1 82630 1.21021E-5 41315 0 6.25391E-4
17-67187394-G-A p.Pro645Leu missense ABCA10 1 82670 1.20963E-5 41335 0 4.05729E-6
17-67187395-G-A p.Pro645Ser missense ABCA10 7 82640 8.47047E-5 41320 0 5.27555E-5
17-67187397-A-G p.Ile644Thr missense ABCA10 2 82790 2.41575E-5 41395 0 3.18451E-5
17-67187410-T-A p.Ile640Phe missense ABCA10 1 82802 1.2077E-5 41401 0 NA
17-67187418-G-A p.Thr637Ile missense ABCA10 3 82642 3.63012E-5 41321 0 2.84123E-5
17-67187425-T-C p.Lys635Glu missense ABCA10 2 82640 2.42014E-5 41320 0 NA
17-67187429-T-C p.Thr633Thr synonymous ABCA10 2 82616 2.42084E-5 41308 0 6.36821E-5
17-67187432-G-C p.Asp632Glu missense ABCA10 1 82338 1.21451E-5 41169 0 4.1559E-6
17-67187447-C-A p.Arg627Ser missense ABCA10 1 81696 1.22405E-5 40848 0 NA
17-67187453-T-A p.Leu625Phe missense ABCA10 1 81168 1.23201E-5 40584 0 8.99459E-6
17-67187457-C-T c.1872-1G>A splice_acceptor ABCA10 1 80886 1.23631E-5 40443 0 8.54759E-6
17-67188700-A-G c.1871+4T>C splice_region ABCA10 1 82774 1.20811E-5 41387 0 NA
17-67188700-A-C c.1871+4T>G splice_region ABCA10 1 82774 1.20811E-5 41387 0 NA
17-67188701-T-C c.1871+3A>G splice_region ABCA10 1 82778 1.20805E-5 41389 0 1.6655E-5
17-67188722-C-A p.Gly618Val missense ABCA10 3 82912 3.61829E-5 41456 0 3.18695E-5
17-67188731-C-T p.Arg615Gln missense ABCA10 77 82922 9.28583E-4 41461 0 5.41643E-4
17-67188732-G-A p.Arg615* stop_gained ABCA10 3 82916 3.61812E-5 41458 0 1.49735E-4
17-67188733-C-T p.Lys614Lys synonymous ABCA10 1 82924 1.20592E-5 41462 0 NA
17-67188748-T-C p.Ser609Ser synonymous ABCA10 2 82902 2.41249E-5 41451 0 NA
17-67188759-A-G p.Cys606Arg missense ABCA10 1 82860 1.20685E-5 41430 0 1.20186E-5
17-67188790-C-T p.Arg595Arg synonymous ABCA10 1 82424 1.21324E-5 41212 0 8.35492E-6
17-67188793-A-C p.Asp594Glu missense+splice_region ABCA10 2 82352 2.4286E-5 41176 0 8.36456E-6
17-67188795-C-T c.1781-1G>A splice_acceptor ABCA10 1 82292 1.21518E-5 41146 0 3.18532E-5
17-67188802-G-A c.1781-8C>T splice_region ABCA10 1 82110 1.21788E-5 41055 0 NA
17-67189246-A-T c.1780+5T>A splice_region ABCA10 2 83084 2.4072E-5 41542 0 NA
17-67189260-T-C p.Ile591Val missense ABCA10 1 83164 1.20244E-5 41582 0 NA
17-67189265-G-A p.Ala589Val missense ABCA10 1 83184 1.20215E-5 41592 0 NA
17-67189276-GA-G p.Phe585fs frameshift ABCA10 4 83204 4.80746E-5 41602 0 3.1837E-5
17-67189279-T-C p.Gln584Gln synonymous ABCA10 1 83236 1.2014E-5 41618 0 8.25818E-6
17-67189286-CT-C p.Ser582fs frameshift ABCA10 1 83296 1.20054E-5 41648 0 NA
17-67189287-T-C p.Ser582Gly missense ABCA10 1 83302 1.20045E-5 41651 0 NA
17-67189292-A-G p.Leu580Pro missense ABCA10 1 83316 1.20025E-5 41658 0 NA
17-67189293-G-T p.Leu580Ile missense ABCA10 1 83344 1.19985E-5 41672 0 NA
17-67189293-G-A p.Leu580Phe missense ABCA10 1 83344 1.19985E-5 41672 0 9.89674E-5
17-67189301-C-T p.Arg577Gln missense ABCA10 3 83344 3.59954E-5 41672 0 0.001875
17-67189302-G-A p.Arg577* stop_gained ABCA10 543 83338 0.00651564 41669 8 0.0136306
17-67189323-G-C p.Leu570Val missense ABCA10 1 83366 1.19953E-5 41683 0 NA
17-67189338-G-A p.Arg565* stop_gained ABCA10 2 83362 2.39917E-5 41681 0 3.18492E-5
17-67189339-G-A p.His564His synonymous ABCA10 1 83360 1.19962E-5 41680 0 1.15393E-4
17-67189351-G-C p.Pro560Pro synonymous ABCA10 3 83370 3.59842E-5 41685 0 6.25E-4
17-67189352-G-A p.Pro560Leu missense ABCA10 1 83368 1.1995E-5 41684 0 8.24525E-6
17-67189354-A-G p.Asp559Asp synonymous ABCA10 3 83370 3.59842E-5 41685 0 3.18573E-5
17-67189359-A-G p.Leu558Leu synonymous ABCA10 2 83360 2.39923E-5 41680 0 1.64976E-5
17-67189360-T-C p.Gly557Gly synonymous ABCA10 1 83360 1.19962E-5 41680 0 NA
17-67189361-C-A p.Gly557Val missense ABCA10 1 83362 1.19959E-5 41681 0 3.18573E-5
17-67189366-A-G p.Thr555Thr synonymous ABCA10 1 83348 1.19979E-5 41674 0 8.25478E-6
17-67189367-G-A p.Thr555Ile missense ABCA10 1 83350 1.19976E-5 41675 0 NA
17-67189368-T-A p.Thr555Ser missense ABCA10 1 83354 1.1997E-5 41677 0 4.00138E-6
17-67189368-T-C p.Thr555Ala missense ABCA10 1 83354 1.1997E-5 41677 0 2.47778E-5
17-67189376-T-C p.Asp552Gly missense ABCA10 1 83350 1.19976E-5 41675 0 NA
17-67189380-G-A p.Leu551Leu synonymous ABCA10 1 83346 1.19982E-5 41673 0 9.55657E-5
17-67189382-A-C p.Leu550Arg missense ABCA10 1 83342 1.19988E-5 41671 0 5.03525E-4
17-67189638-G-T p.Pro546His missense ABCA10 1 83142 1.20276E-5 41571 0 NA
17-67189651-T-C p.Ile542Val missense ABCA10 1 83176 1.20227E-5 41588 0 NA
17-67189667-T-C p.Leu536Leu synonymous ABCA10 709 83184 0.00852327 41592 17 0.0164968
17-67189672-T-G p.Lys535Gln missense ABCA10 6 83196 7.21189E-5 41598 1 1.27389E-4
17-67189690-T-C p.Ser529Gly missense ABCA10 3 83188 3.60629E-5 41594 0 6.37064E-5
17-67189711-C-T p.Asp522Asn missense ABCA10 1 83140 1.20279E-5 41570 0 NA
17-67189724-C-T p.Met517Ile missense ABCA10 1 83096 1.20343E-5 41548 0 NA
17-67189739-T-G p.Asn454His missense ABCA10 1 82996 1.20488E-5 41498 0 3.1841E-5
17-67189740-ATAAT-A p.Ile511fs frameshift ABCA10 2 82996 2.40975E-5 41498 0 NA
17-67189743-AT-A p.Ile511fs frameshift ABCA10 2 82982 2.41016E-5 41491 0 NA
17-67189744-TTC-T p.Arg510fs frameshift ABCA10 11 82976 1.32568E-4 41488 0 7.37914E-5
17-67189746-C-A p.Arg510Ile missense ABCA10 1 82966 1.20531E-5 41483 0 NA
17-67189751-T-TA p.Arg510fs frameshift ABCA10 1 82946 1.2056E-5 41473 0 NA
17-67189752-A-G p.Val508Ala missense+splice_region ABCA10 5 82942 6.02831E-5 41471 0 3.18837E-5
17-67189752-A-T p.Val508Glu missense+splice_region ABCA10 15 82942 1.80849E-4 41471 0 0.00250627
17-67189948-C-A c.1521+7G>T splice_region ABCA10 1 83128 1.20296E-5 41564 0 NA
17-67189951-G-A c.1521+4C>T splice_region ABCA10 23 83134 2.76662E-4 41567 0 7.6477E-4
17-67189954-C-T c.1521+1G>A splice_donor ABCA10 1 83144 1.20273E-5 41572 0 1.19735E-5
17-67189958-T-C p.Gln506Gln synonymous ABCA10 3 83154 3.60776E-5 41577 0 8.24063E-6
17-67189959-T-C p.Gln506Arg missense ABCA10 2 83160 2.405E-5 41580 0 3.18471E-5
17-67189973-T-C p.Pro501Pro synonymous ABCA10 378 83158 0.00454556 41579 8 0.00928117
17-67189976-C-T p.Gln500Gln synonymous ABCA10 1 83170 1.20236E-5 41585 0 NA
17-67189982-C-T p.Gly498Gly synonymous ABCA10 2 83170 2.40471E-5 41585 0 1.64804E-5
17-67189993-T-C p.Lys495Glu missense ABCA10 1 83190 1.20207E-5 41595 0 NA
17-67190000-T-C p.Val492Val synonymous ABCA10 1 83184 1.20215E-5 41592 0 1.566E-4
17-67190004-C-T p.Arg491Lys missense ABCA10 1 83186 1.20213E-5 41593 0 3.29717E-5
17-67190005-T-C p.Arg491Gly missense ABCA10 1 83188 1.2021E-5 41594 0 NA
17-67190006-G-A p.Leu490Leu synonymous ABCA10 1 83192 1.20204E-5 41596 0 NA
17-67190009-G-GT p.Asn489fs frameshift ABCA10 1 83190 1.20207E-5 41595 0 8.24294E-6
17-67190020-C-T p.Val486Met missense ABCA10 1 83184 1.20215E-5 41592 0 1.64883E-5
17-67190023-T-C p.Thr485Ala missense ABCA10 4 83182 4.80873E-5 41591 0 8.24416E-5
17-67190027-G-T p.Phe483Leu missense ABCA10 3 83176 3.60681E-5 41588 0 1.9921E-5
17-67190043-T-C p.Asn478Ser missense ABCA10 14 83176 1.68318E-4 41588 0 3.58343E-5
17-67190056-A-G p.Cys474Arg missense ABCA10 2 83152 2.40523E-5 41576 0 2.47521E-5
17-67190060-T-A p.Gly472Gly synonymous ABCA10 5 83154 6.01294E-5 41577 0 0.00159266
17-67190065-T-C p.Ile471Val missense ABCA10 3 83138 3.60846E-5 41569 0 1.65074E-5
17-67190085-A-C p.Met464Arg missense ABCA10 1 83124 1.20302E-5 41562 0 8.26487E-6
17-67190089-C-T p.Asp463Asn missense ABCA10 1 83128 1.20296E-5 41564 0 2.48168E-5
17-67190107-G-A p.Gln457* stop_gained ABCA10 1 83084 1.2036E-5 41542 0 4.03894E-6
17-67190111-A-G p.Asn455Asn synonymous ABCA10 2 83064 2.40778E-5 41532 0 2.04432E-5
17-67190114-A-G p.Tyr454Tyr synonymous ABCA10 377 83028 0.00454064 41514 4 0.00832843
17-67190117-AAT-A p.Ile453fs frameshift ABCA10 3790 83022 0.0456505 41511 481 0.0907961
17-67190122-T-C p.Thr452Ala missense ABCA10 2 82972 2.41045E-5 41486 0 4.1248E-6
17-67190128-A-G p.Ser450Pro missense+splice_region ABCA10 2 82934 2.41156E-5 41467 0 0.0025227
17-67190524-A-G c.1345+2T>C splice_donor ABCA10 2 82886 2.41295E-5 41443 0 5.27204E-5
17-67190532-T-G p.Thr447Pro missense ABCA10 1 82932 1.20581E-5 41466 0 NA
17-67190536-AACAG-A p.Ser444fs frameshift ABCA10 5750 82892 0.0693674 41446 277 0.0804705
17-67190540-G-A p.Ser444Phe missense ABCA10 1 82164 1.21708E-5 41082 0 NA
17-67190543-A-C p.Leu443Trp missense ABCA10 4 82976 4.82067E-5 41488 0 1.649E-5
17-67190544-A-G p.Leu443Leu synonymous ABCA10 2 82986 2.41005E-5 41493 0 3.9847E-6
17-67190547-C-T p.Gly442Arg missense ABCA10 1 82994 1.20491E-5 41497 0 NA
17-67190559-T-A p.Asn438Tyr missense ABCA10 3 83026 3.61333E-5 41513 0 3.18451E-5
17-67190568-T-C p.Thr435Ala missense ABCA10 103 83028 0.00124055 41514 1 0.00235609
17-67190583-C-T p.Gly430Arg missense ABCA10 1 83040 1.20424E-5 41520 0 NA
17-67190587-A-G p.His428His synonymous ABCA10 15 83042 1.80631E-4 41521 0 1.19461E-5
17-67190592-C-T p.Gly427Arg missense ABCA10 1 83038 1.20427E-5 41519 0 NA
17-67190599-T-C p.Ala424Ala synonymous ABCA10 1 83042 1.20421E-5 41521 0 1.19528E-5
17-67190600-G-T p.Ala424Glu missense ABCA10 1 83032 1.20435E-5 41516 0 NA
17-67190605-G-A p.Ile422Ile synonymous ABCA10 1 83030 1.20438E-5 41515 0 3.98928E-6
17-67190606-A-G p.Ile422Thr missense ABCA10 1 83018 1.20456E-5 41509 0 7.97792E-6
17-67190619-A-G p.Tyr418His missense ABCA10 85 82842 0.00102605 41421 0 0.00213403
17-67190622-T-C p.Ile417Val missense ABCA10 1 82780 1.20802E-5 41390 0 3.18573E-5
17-67190631-A-C p.Phe414Val missense ABCA10 1 82714 1.20899E-5 41357 0 NA
17-67190634-T-C p.Ile413Val missense+splice_region ABCA10 2 82698 2.41844E-5 41349 0 3.18471E-5
17-67190636-C-A p.Gly412Val missense+splice_region ABCA10 1 82660 1.20978E-5 41330 0 4.15179E-6
17-67190637-CTGTT-C c.1235-5_1235-2delAACA splice_acceptor ABCA10 2 82670 2.41926E-5 41335 0 6.37064E-5
17-67192424-CACTTCTCAG-C c.*67_*73+2delCTGAGAAGT splice_donor ABCA10 1 314 0.00318471 157 0 0.00873209
17-67192573-C-T p.Arg429His missense ABCA10 1 582 0.00171821 291 0 0.00260417
17-67193206-T-G p.Gln411His missense+splice_region ABCA10 1 81634 1.22498E-5 40817 0 2.00908E-5
17-67193219-A-G p.Val407Ala missense ABCA10 3 82068 3.65551E-5 41034 0 1.73369E-5
17-67193229-T-G p.Thr404Pro missense ABCA10 1 82246 1.21586E-5 41123 0 1.05285E-4
17-67193236-AT-A p.Asn401fs frameshift ABCA10 1 82314 1.21486E-5 41157 0 NA
17-67193240-T-C p.Tyr400Cys missense ABCA10 1 82362 1.21415E-5 41181 0 NA
17-67193253-C-T p.Val396Ile missense ABCA10 1 82380 1.21389E-5 41190 0 NA
17-67197635-A-T c.1175+6T>A splice_region ABCA10 3 82426 3.63963E-5 41213 0 3.32611E-5
17-67197635-A-C c.1175+6T>G splice_region ABCA10 1 82426 1.21321E-5 41213 0 NA
17-67197650-TC-T p.Glu389fs frameshift ABCA10 1 82890 1.20642E-5 41445 0 NA
17-67197656-C-T p.Gly387Glu missense ABCA10 1 82916 1.20604E-5 41458 0 9.49586E-5
17-67197668-G-A p.Pro383Leu missense ABCA10 7 83092 8.4244E-5 41546 0 6.77978E-5
17-67197675-C-A p.Val381Leu missense ABCA10 2 83126 2.40599E-5 41563 0 3.27065E-5
17-67197676-C-T p.Pro380Pro synonymous ABCA10 2 83120 2.40616E-5 41560 0 3.18756E-5
17-67197677-G-A p.Pro380Leu missense ABCA10 1 83110 1.20322E-5 41555 0 6.37511E-5
17-67197683-A-C p.Phe378Cys missense ABCA10 1 83158 1.20253E-5 41579 0 5.83022E-5
17-67197686-G-C p.Ser377Cys missense ABCA10 1 83178 1.20224E-5 41589 0 NA
17-67197687-A-T p.Ser377Thr missense ABCA10 1 83188 1.2021E-5 41594 0 NA
17-67197701-T-G p.His372Pro missense ABCA10 720 83234 0.00865031 41617 17 0.0169567
17-67197706-A-G p.Pro370Pro synonymous ABCA10 2 83250 2.4024E-5 41625 0 8.00653E-6
17-67197714-T-G p.Ile368Leu missense ABCA10 1 83252 1.20117E-5 41626 0 NA
17-67197732-C-T p.Glu362Lys missense ABCA10 1 83274 1.20085E-5 41637 0 8.26282E-6
17-67197733-A-G p.His361His synonymous ABCA10 2 83274 2.40171E-5 41637 0 NA
17-67197756-A-T p.Ser354Thr missense ABCA10 1 83250 1.2012E-5 41625 0 NA
17-67197773-A-G p.Leu348Pro missense ABCA10 3 83224 3.60473E-5 41612 0 3.18532E-5
17-67197773-A-C p.Leu348Arg missense ABCA10 3 83224 3.60473E-5 41612 0 8.33278E-6
17-67197782-A-C p.Leu345* stop_gained ABCA10 1 83210 1.20178E-5 41605 0 3.18552E-5
17-67197793-C-A p.Gly341Gly synonymous ABCA10 1 83134 1.20288E-5 41567 0 1.25075E-5
17-67197803-T-C p.Asp338Gly missense ABCA10 1 83080 1.20366E-5 41540 0 4.24387E-6
17-67210846-A-G p.Pro335Pro splice_region+synonymous ABCA10 2 81952 2.44045E-5 40976 0 NA
17-67210856-C-T p.Arg332Gln missense ABCA10 40 82130 4.87033E-4 41065 0 0.00253293
17-67210857-G-C p.Arg332Gly missense ABCA10 1 82122 1.2177E-5 41061 0 8.58192E-6
17-67210860-C-A p.Glu331* stop_gained ABCA10 1 82262 1.21563E-5 41131 0 6.04639E-6
17-67210869-A-T p.Leu328Ile missense ABCA10 1 82428 1.21318E-5 41214 0 NA
17-67210880-A-C p.Leu324Trp missense ABCA10 2 82630 2.42043E-5 41315 0 NA
17-67210909-G-GA p.Ile315fs frameshift ABCA10 2 82648 2.4199E-5 41324 0 1.19366E-5
17-67210911-A-C p.Phe314Val missense ABCA10 1 82644 1.21001E-5 41322 0 NA
17-67210924-C-CA p.Met309fs frameshift ABCA10 4 82484 4.84943E-5 41242 0 6.66689E-5
17-67210947-G-T p.Pro302Thr missense ABCA10 1 82412 1.21342E-5 41206 0 NA
17-67210950-C-G p.Asp301His missense ABCA10 1 82368 1.21406E-5 41184 0 NA
17-67210986-G-A p.His289Tyr missense ABCA10 4 81692 4.89644E-5 40846 0 8.40407E-6
17-67210992-T-C p.Ile287Val missense+splice_region ABCA10 21921 74656 0.293627 37328 2482 0.372123
17-67210993-C-G c.859-1G>C splice_acceptor ABCA10 1 81308 1.22989E-5 40654 0 NA
17-67211593-A-T c.*89T>A splice_region ABCA10 13 18452 7.04531E-4 9226 0 9.87324E-4
17-67211684-T-C c.411-2A>G splice_acceptor ABCA10 4 37260 1.07354E-4 18630 0 1.91107E-4
17-67211956-C-G p.Gln286His missense+splice_region ABCA10 2 82318 2.4296E-5 41159 0 NA
17-67211961-C-T p.Ala285Thr missense ABCA10 1 82388 1.21377E-5 41194 0 NA
17-67211977-G-C p.Ala279Ala synonymous ABCA10 1 82884 1.20651E-5 41442 0 NA
17-67211985-G-T p.Pro277Thr missense ABCA10 247 83076 0.00297318 41538 3 0.0060423
17-67211991-G-C p.Leu275Val missense ABCA10 2 83166 2.40483E-5 41583 0 NA
17-67211997-T-C p.Ser273Gly missense ABCA10 1 83234 1.20143E-5 41617 0 NA
17-67212003-C-G p.Val271Leu missense ABCA10 7 83242 8.40922E-5 41621 0 9.98259E-5
17-67212003-C-A p.Val271Leu missense ABCA10 2 83242 2.40263E-5 41621 0 3.99304E-6
17-67212007-T-C p.Gly269Gly synonymous ABCA10 10 83240 1.20135E-4 41620 0 2.23129E-4
17-67212031-A-G p.Tyr261Tyr synonymous ABCA10 48768 82724 0.589527 41362 14790 0.647727
17-67212031-A-T p.Tyr261* stop_gained ABCA10 2328 83238 0.027968 41619 171 0.053324
17-67212031-AT-GC p.Tyr261Cys missense ABCA10 1 83278 1.2008E-5 41639 0 NA
17-67212041-G-A p.Thr258Ile missense ABCA10 1 83280 1.20077E-5 41640 0 1.65041E-5
17-67212066-C-T p.Val250Ile missense ABCA10 3 83280 3.60231E-5 41640 0 9.55231E-5
17-67212089-C-T p.Gly242Asp missense ABCA10 2 83238 2.40275E-5 41619 0 NA
17-67212093-C-T p.Ala241Thr missense ABCA10 4 83208 4.80723E-5 41604 0 8.75964E-5
17-67212123-T-C p.Met231Val missense ABCA10 7 83092 8.4244E-5 41546 0 5.41367E-4
17-67212123-T-A p.Met231Leu missense ABCA10 1 83092 1.20349E-5 41546 0 3.18451E-5
17-67212136-T-C p.Ala226Ala synonymous ABCA10 1 82988 1.20499E-5 41494 0 NA
17-67212141-T-G p.Ile225Leu missense+splice_region ABCA10 1 82948 1.20557E-5 41474 0 0.00100705
17-67212142-C-G c.673-1G>C splice_acceptor ABCA10 4 82956 4.82183E-5 41478 0 0.00375
17-67212145-A-T c.673-4T>A splice_region ABCA10 26 82910 3.13593E-4 41455 0 9.23626E-4
17-67212352-A-G c.672+6T>C splice_region ABCA10 10 83040 1.20424E-4 41520 0 9.55475E-5
17-67212366-GGCCATATAA-G p.Leu219_Gly221del conservative_inframe_deletion ABCA10 88 83122 0.00105868 41561 0 0.00113205
17-67212374-A-AAGCTAT p.Tyr217_Ser218dup conservative_inframe_insertion ABCA10 3 83142 3.60828E-5 41571 0 1.60129E-5
17-67212377-CTA-C p.Tyr217fs frameshift ABCA10 2 83154 2.40518E-5 41577 0 8.2916E-6
17-67212380-T-C p.Tyr217Cys missense ABCA10 1 83156 1.20256E-5 41578 0 8.28363E-6
17-67212390-A-G p.Phe214Leu missense ABCA10 50 83156 6.0128E-4 41578 0 0.00276432
17-67212401-A-G p.Phe210Ser missense ABCA10 3 83158 3.60759E-5 41579 0 4.77897E-5
17-67212407-G-A p.Thr208Ile missense ABCA10 2 83176 2.40454E-5 41588 0 3.98213E-6
17-67212408-T-C p.Thr208Ala missense ABCA10 1 83176 1.20227E-5 41588 0 8.2496E-6
17-67212409-A-G p.His207His synonymous ABCA10 42 83170 5.0499E-4 41585 0 4.3401E-4
17-67212409-A-T p.His207Gln missense ABCA10 4 83170 4.80943E-5 41585 0 8.75984E-5
17-67212415-T-C p.Val205Val synonymous ABCA10 4 83170 4.80943E-5 41585 0 6.25E-4
17-67212419-A-G p.Ile204Thr missense ABCA10 5 83182 6.01092E-5 41591 0 4.9478E-5
17-67212423-G-A p.Pro203Ser missense ABCA10 52573 82906 0.634128 41453 16779 0.65005
17-67212423-G-T p.Pro203Thr missense ABCA10 2 83168 2.40477E-5 41584 0 3.98864E-6
17-67212452-A-G p.Ile193Thr missense ABCA10 1 83184 1.20215E-5 41592 0 NA
17-67212457-C-T p.Met191Ile missense ABCA10 15 83178 1.80336E-4 41589 0 2.06519E-4
17-67212487-T-C p.Gly181Gly synonymous ABCA10 2 83190 2.40414E-5 41595 0 3.1837E-5
17-67212488-C-A p.Gly181Val missense ABCA10 2 83194 2.40402E-5 41597 0 NA
17-67212499-C-CATAG c.531-1_531insCTAT splice_acceptor ABCA10 1 83158 1.20253E-5 41579 0 NA
17-67215680-A-G c.530+6T>C splice_region ABCA10 1 82086 1.21823E-5 41043 0 8.92889E-6
17-67215685-C-T c.530+1G>A splice_donor ABCA10 1 82148 1.21732E-5 41074 0 NA
17-67215701-C-T p.Arg172Gln missense ABCA10 2 82586 2.42172E-5 41293 0 8.61579E-6
17-67215702-G-A p.Arg172* stop_gained ABCA10 107 82548 0.00129622 41274 0 0.00385571
17-67215712-C-T p.Val168Val synonymous ABCA10 50541 79834 0.633076 39917 16004 0.653535
17-67215716-G-A p.Thr167Ile missense ABCA10 2 82864 2.41359E-5 41432 0 NA
17-67215717-T-C p.Thr167Ala missense ABCA10 4 82870 4.82684E-5 41435 0 5.05051E-4
17-67215733-T-A p.Lys161Asn missense ABCA10 1 82930 1.20584E-5 41465 0 NA
17-67215742-T-G p.Glu158Asp missense ABCA10 2 82944 2.41127E-5 41472 0 4.02765E-6
17-67215746-C-T p.Arg157Lys missense ABCA10 43 82974 5.18235E-4 41487 0 5.54718E-4
17-67215768-A-G p.Phe150Leu missense ABCA10 1 83026 1.20444E-5 41513 0 NA
17-67215772-T-C p.Ile148Met missense ABCA10 1 83024 1.20447E-5 41512 0 8.28199E-6
17-67215774-T-A p.Ile148Leu missense ABCA10 4 83038 4.81707E-5 41519 0 4.82664E-5
17-67215774-T-C p.Ile148Val missense ABCA10 2 83038 2.40854E-5 41519 0 5.04032E-4
17-67215776-AAAG-A p.Ser146del disruptive_inframe_deletion ABCA10 1 83050 1.20409E-5 41525 0 NA
17-67215780-A-T p.Ser146Thr missense ABCA10 1 83058 1.20398E-5 41529 0 NA
17-67215785-A-C p.Phe144Cys missense ABCA10 1 83058 1.20398E-5 41529 0 4.96672E-5
17-67215791-A-T p.Val142Asp missense ABCA10 1 83044 1.20418E-5 41522 0 8.27924E-6
17-67215802-A-G p.Phe138Phe synonymous ABCA10 1 83034 1.20433E-5 41517 0 4.00972E-6
17-67215805-A-G p.His137His synonymous ABCA10 8 83020 9.63623E-5 41510 0 6.25E-4
17-67215811-C-T p.Trp135* stop_gained ABCA10 2 83002 2.40958E-5 41501 0 4.01281E-6
17-67215821-A-G p.Met132Thr missense ABCA10 4 82972 4.8209E-5 41486 0 1.20069E-5
17-67215831-C-A p.Gly129* stop_gained ABCA10 1 82962 1.20537E-5 41481 0 NA
17-67215836-G-C p.Ser127Cys missense ABCA10 7 82916 8.44228E-5 41458 0 9.56023E-5
17-67215840-T-A p.Ile126Phe missense ABCA10 4 82882 4.82614E-5 41441 0 2.40258E-5
17-67215845-G-A p.Pro124Leu missense ABCA10 1 82828 1.20732E-5 41414 0 NA
17-67215847-T-TTA p.Pro124fs frameshift ABCA10 2 82804 2.41534E-5 41402 0 NA
17-67215848-G-C p.Pro123Arg missense ABCA10 2 82794 2.41563E-5 41397 0 NA
17-67215849-G-A p.Pro123Ser missense ABCA10 2 82778 2.4161E-5 41389 0 NA
17-67215876-A-T p.Ser114Thr missense ABCA10 1 82118 1.21776E-5 41059 0 4.08817E-6
17-67215888-C-T p.Glu110Lys missense ABCA10 1 81772 1.22291E-5 40886 0 NA
17-67215899-T-A p.His106Leu missense ABCA10 1 81294 1.2301E-5 40647 0 NA
17-67215903-T-C p.Asn105Asp missense ABCA10 1 81166 1.23204E-5 40583 0 2.99573E-5
17-67215906-T-C p.Thr104Ala missense ABCA10 1 81050 1.23381E-5 40525 0 NA
17-67215915-A-G c.304-3T>C splice_region ABCA10 3 80364 3.73301E-5 40182 0 NA
17-67217928-C-T c.303+5G>A splice_region ABCA10 1 83076 1.20372E-5 41538 0 NA
17-67217945-A-G p.Ala97Ala synonymous ABCA10 1 83196 1.20198E-5 41598 0 NA
17-67217956-C-A p.Ala94Ser missense ABCA10 2 83208 2.40361E-5 41604 0 NA
17-67217958-G-A p.Ala93Val missense ABCA10 1 83216 1.20169E-5 41608 0 NA
17-67217967-G-A p.Ala90Val missense ABCA10 2 83210 2.40356E-5 41605 0 1.19823E-5
17-67217983-G-C p.Leu85Val missense ABCA10 519 83202 0.00623783 41601 7 0.0123
17-67217990-C-T p.Lys82Lys synonymous ABCA10 7 83218 8.41164E-5 41609 0 5.99741E-5
17-67217999-G-C p.Tyr79* stop_gained ABCA10 7 83208 8.41265E-5 41604 0 1.91266E-4
17-67218003-C-CAA p.Cys78fs frameshift ABCA10 1 83198 1.20195E-5 41599 0 NA
17-67218011-T-C p.Glu75Glu synonymous ABCA10 2 83192 2.40408E-5 41596 0 NA
17-67218015-C-T p.Gly74Asp missense ABCA10 1 83188 1.2021E-5 41594 0 2.00086E-5
17-67218018-T-G p.His73Pro missense ABCA10 4 83176 4.80908E-5 41588 0 2.54777E-4
17-67218021-A-G p.Met72Thr missense ABCA10 2 83166 2.40483E-5 41583 0 NA
17-67218036-T-C p.Glu67Gly missense+splice_region ABCA10 21 83104 2.52695E-4 41552 0 2.52675E-4
17-67218670-T-A c.199+4A>T splice_region ABCA10 2 82348 2.42872E-5 41174 0 NA
17-67218672-A-G c.199+2T>C splice_donor ABCA10 7 82410 8.49411E-5 41205 0 5.42161E-4
17-67218685-G-A p.Ser63Phe missense ABCA10 4 82854 4.82777E-5 41427 0 2.55999E-5
17-67218710-T-C p.Arg55Gly missense ABCA10 2 83126 2.40599E-5 41563 0 4.3096E-6
17-67218726-C-G p.Lys49Asn missense ABCA10 2 83144 2.40547E-5 41572 0 NA
17-67218733-C-T p.Arg47His missense ABCA10 6 83162 7.21483E-5 41581 0 6.37796E-5
17-67218734-G-A p.Arg47Cys missense ABCA10 4 83162 4.80989E-5 41581 0 2.48123E-5
17-67218741-G-A p.Phe44Phe synonymous ABCA10 6 83176 7.21362E-5 41588 0 1.24331E-5
17-67218746-T-C p.Thr43Ala missense ABCA10 14 83178 1.68314E-4 41589 0 2.23029E-4
17-67218762-T-C p.Gly37Gly synonymous ABCA10 3 83174 3.6069E-5 41587 0 2.86807E-4
17-67218763-C-G p.Gly37Ala missense ABCA10 2 83176 2.40454E-5 41588 0 3.18674E-5
17-67218768-C-A p.Met35Ile missense ABCA10 1 83166 1.20241E-5 41583 0 8.39342E-6
17-67218768-C-T p.Met35Ile missense ABCA10 1 83166 1.20241E-5 41583 0 1.65142E-5
17-67218779-A-AT p.Tyr32fs frameshift ABCA10 1 83144 1.20273E-5 41572 0 8.47185E-6
17-67218799-T-C p.Asp25Gly missense ABCA10 3 83138 3.60846E-5 41569 0 3.88038E-5
17-67218799-T-A p.Asp25Val missense ABCA10 1 83138 1.20282E-5 41569 0 NA
17-67218816-T-C p.Pro19Pro synonymous ABCA10 1 83060 1.20395E-5 41530 0 NA
17-67218816-TG-T p.Pro19fs frameshift ABCA10 1 83060 1.20395E-5 41530 0 8.25396E-6
17-67218826-A-G p.Ile16Thr missense ABCA10 1 83006 1.20473E-5 41503 0 9.21574E-6
17-67218829-ACTGTT-A p.Arg13fs frameshift ABCA10 1 82952 1.20552E-5 41476 0 4.73669E-6
17-67218836-T-A p.Arg13* stop_gained ABCA10 1 82760 1.20831E-5 41380 0 4.92839E-6
17-67219768-C-T n.548+1G>A splice_donor ABCA10 1399 9358 0.149498 4679 129 0.186216
17-67221472-T-A p.Met10Leu missense ABCA10 1 83194 1.20201E-5 41597 0 6.37471E-5
17-67221473-A-AAGGCCAT p.Phe9fs frameshift ABCA10 5 83196 6.0099E-5 41598 0 8.2802E-6
17-67221487-C-T p.Ala5Thr missense ABCA10 2 83204 2.40373E-5 41602 0 NA
17-67221498-A-G p.Met1? start_lost ABCA10 5 83206 6.00918E-5 41603 0 6.37267E-5
17-67221531-T-C c.-32A>G 5_prime_UTR_premature_start_codon_gain ABCA10 1 83060 1.20395E-5 41530 0 4.00734E-6
17-67221538-C-G c.-39G>C 5_prime_UTR_premature_start_codon_gain ABCA10 1 82964 1.20534E-5 41482 0 NA
17-67221568-C-T c.-69G>A 5_prime_UTR_premature_start_codon_gain ABCA10 6 82432 7.27873E-5 41216 0 6.25E-4
17-67221604-G-A c.-105C>T 5_prime_UTR_premature_start_codon_gain ABCA10 1 81070 1.2335E-5 40535 0 3.18674E-5
17-67221624-G-A c.-125C>T 5_prime_UTR_premature_start_codon_gain ABCA10 4 78460 5.09814E-5 39230 0 NA
17-67221668-T-C c.-169A>G splice_region ABCA10 1 68650 1.45666E-5 34325 0 NA
17-67223284-A-G c.-172+2T>C splice_donor ABCA10 2 43312 4.61766E-5 21656 0 3.47295E-5
17-67223358-C-T c.-244G>A 5_prime_UTR_premature_start_codon_gain ABCA10 4 44464 8.99604E-5 22232 0 6.66089E-5
17-67223362-T-C c.-248A>G 5_prime_UTR_premature_start_codon_gain ABCA10 1 44468 2.24881E-5 22234 0 NA
17-67223429-A-G c.-312-3T>C splice_region ABCA10 5 43708 1.14396E-4 21854 0 3.25478E-5
17-67223430-G-C c.-312-4C>G splice_region ABCA10 1 43684 2.28917E-5 21842 0 NA