Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-67144734-G-A c.*4267C>T splice_region ABCA10 51 40100 0.00127182 20050 0 5.09684E-4
17-67144970-A-C p.Ter1544Gluext*? stop_lost ABCA10 2 80222 2.49308E-5 40111 0 NA
17-67144973-G-C p.Pro1543Ala missense ABCA10 3 80290 3.73646E-5 40145 0 9.55962E-5
17-67144974-G-A p.Asp1542Asp synonymous ABCA10 1 80310 1.24517E-5 40155 0 6.46831E-4
17-67144984-G-A p.Pro1539Leu missense ABCA10 2 80492 2.48472E-5 40246 0 NA
17-67145001-A-C p.Val1533Val synonymous ABCA10 1 80652 1.23989E-5 40326 0 NA
17-67145004-T-C p.Thr1532Thr synonymous ABCA10 1 80682 1.23943E-5 40341 0 NA
17-67145008-G-C p.Thr1531Arg missense ABCA10 2 80706 2.47813E-5 40353 0 NA
17-67145012-C-T p.Asp1530Asn missense ABCA10 1 80738 1.23857E-5 40369 0 NA
17-67145018-T-C p.Lys1528Glu missense ABCA10 1 80762 1.23821E-5 40381 0 3.18431E-5
17-67145023-T-A p.Asp1526Val missense ABCA10 1 80768 1.23811E-5 40384 0 7.96559E-6
17-67145025-A-G p.Val1525Val synonymous ABCA10 4 80778 4.95184E-5 40389 0 NA
17-67145026-A-C p.Val1525Gly missense ABCA10 2 80776 2.47598E-5 40388 0 NA
17-67145039-C-A p.Glu1521* stop_gained ABCA10 1 80778 1.23796E-5 40389 0 NA
17-67145040-C-G p.Gln1520His missense ABCA10 1 80788 1.23781E-5 40394 0 NA
17-67145051-A-G p.Cys1517Arg missense ABCA10 1 80796 1.23769E-5 40398 0 2.79158E-5
17-67145058-T-C p.Leu1514Leu synonymous ABCA10 1 80802 1.23759E-5 40401 0 NA
17-67145170-C-A c.4533+4G>T splice_region ABCA10 9 80962 1.11163E-4 40481 0 4.94486E-5
17-67145177-C-T p.Glu1510Glu synonymous ABCA10 1 80962 1.23515E-5 40481 0 NA
17-67145190-TGA-T p.Gln1506fs frameshift ABCA10 5587 80882 0.0690759 40441 267 0.0809189
17-67145202-T-C p.Tyr1502Cys missense ABCA10 1 80932 1.23561E-5 40466 0 8.24035E-6
17-67145212-G-C p.Leu1499Val missense ABCA10 5 80900 6.18047E-5 40450 0 1.27397E-4
17-67145227-T-A p.Lys1494* stop_gained ABCA10 1 80824 1.23726E-5 40412 0 4.12086E-5
17-67145228-C-A p.Met1493Ile missense+splice_region ABCA10 1 80814 1.23741E-5 40407 0 NA
17-67146120-CT-C c.4477+4delA splice_region ABCA10 2 80746 2.4769E-5 40373 0 1.20333E-5
17-67146126-C-T p.Ala1492Ala splice_region+synonymous ABCA10 2 80770 2.47617E-5 40385 0 3.18796E-5
17-67146127-G-A n.465+2C>T splice_donor ABCA10 6 80774 7.42813E-5 40387 0 9.95305E-5
17-67146128-C-A n.465+1G>T splice_donor ABCA10 1 80794 1.23772E-5 40397 0 3.18532E-5
17-67146133-A-G p.Leu1490Ser missense ABCA10 2 80816 2.47476E-5 40408 0 NA
17-67146139-A-G p.Phe1488Ser missense ABCA10 8 80826 9.89781E-5 40413 0 0.0015121
17-67146149-G-A p.Arg1485Trp missense ABCA10 455 80824 0.00562952 40412 1 0.00507623
17-67146166-T-C p.Asp1479Gly missense ABCA10 1 80840 1.23701E-5 40420 0 9.55475E-5
17-67146173-C-A p.Val1477Leu missense ABCA10 1 80848 1.23689E-5 40424 0 3.18492E-5
17-67146175-G-C p.Pro1476Arg missense ABCA10 2 80852 2.47366E-5 40426 0 NA
17-67146176-G-A p.Pro1476Ser missense ABCA10 7 80846 8.65844E-5 40423 0 5.41505E-4
17-67146184-T-C p.Tyr1473Cys missense ABCA10 2 80848 2.47378E-5 40424 0 1.40561E-4
17-67146186-C-A p.Ala1472Ala synonymous ABCA10 2 80846 2.47384E-5 40423 0 1.59266E-4
17-67146186-C-T p.Ala1472Ala synonymous ABCA10 8 80846 9.89536E-5 40423 0 0.00100705
17-67146188-C-T p.Ala1472Thr missense ABCA10 63 80832 7.79394E-4 40416 0 5.29328E-4
17-67146191-T-C p.Met1471Val missense ABCA10 6 80830 7.42299E-5 40415 0 4.13674E-5
17-67146204-T-A p.Arg1466Ser missense+splice_region ABCA10 2 80770 2.47617E-5 40385 0 9.55414E-5
17-67148185-T-C p.Arg1466Gly missense+splice_region ABCA10 1 80296 1.24539E-5 40148 0 NA
17-67148197-C-A p.Ala1462Ser missense ABCA10 1 80484 1.24248E-5 40242 0 8.26255E-6
17-67148197-C-G p.Ala1462Pro missense ABCA10 1 80484 1.24248E-5 40242 0 8.26255E-5
17-67148212-G-A p.Leu1457Phe missense ABCA10 4 80668 4.9586E-5 40334 0 1.00503E-4
17-67148224-C-G p.Glu1453Gln missense ABCA10 1 80788 1.23781E-5 40394 0 3.99715E-6
17-67148235-G-A p.Ala1449Val missense ABCA10 1 80864 1.23664E-5 40432 0 NA
17-67148249-A-G p.Pro1444Pro synonymous ABCA10 1 80920 1.23579E-5 40460 0 NA
17-67148259-A-AT p.Met1441fs frameshift ABCA10 5 80918 6.17909E-5 40459 0 1.24224E-4
17-67148261-T-A p.Lys1440Asn missense ABCA10 2 80916 2.4717E-5 40458 0 NA
17-67148261-T-G p.Lys1440Asn missense ABCA10 1 80916 1.23585E-5 40458 0 NA
17-67148263-T-C p.Lys1440Glu missense ABCA10 2 80918 2.47164E-5 40459 0 NA
17-67148265-A-G p.Ile1439Thr missense ABCA10 1 80914 1.23588E-5 40457 0 NA
17-67148273-T-C p.Leu1436Leu synonymous ABCA10 4 80920 4.94315E-5 40460 0 5.03525E-4
17-67148278-A-C p.Tyr1435Asp missense ABCA10 3 80916 3.70755E-5 40458 0 9.55231E-5
17-67148284-T-C p.Arg1433Gly missense ABCA10 1 80904 1.23603E-5 40452 0 1.19821E-5
17-67148286-C-T p.Gly1432Asp missense ABCA10 1 80904 1.23603E-5 40452 0 1.66234E-5
17-67148290-A-G p.Phe1431Leu missense ABCA10 1 80898 1.23612E-5 40449 0 3.99968E-6
17-67148304-T-C p.His1426Arg missense ABCA10 1 80860 1.23671E-5 40430 0 NA
17-67148306-T-G p.Gln1425His missense ABCA10 1 80864 1.23664E-5 40432 0 NA
17-67148307-T-G p.Gln1425Pro missense ABCA10 1 80858 1.23674E-5 40429 0 NA
17-67148327-A-C c.4257-3T>G splice_region ABCA10 7 80816 8.66165E-5 40408 0 5.59862E-5
17-67148508-C-T p.Thr1417Thr synonymous ABCA10 2 80868 2.47317E-5 40434 0 2.49112E-5
17-67148509-G-A p.Thr1417Met missense ABCA10 1 80878 1.23643E-5 40439 0 1.27535E-4
17-67148517-C-T p.Val1414Val synonymous ABCA10 1 80870 1.23655E-5 40435 0 3.99355E-6
17-67148520-C-T p.Met1413Ile missense ABCA10 1 80890 1.23625E-5 40445 0 3.18593E-5
17-67148523-C-T p.Met1412Ile missense ABCA10 1 80892 1.23622E-5 40446 0 NA
17-67148525-T-G p.Met1412Leu missense ABCA10 1 80898 1.23612E-5 40449 0 1.65243E-5
17-67148525-T-A p.Met1412Leu missense ABCA10 1 80898 1.23612E-5 40449 0 2.7918E-5
17-67148533-C-T p.Arg1409His missense ABCA10 1 80900 1.23609E-5 40450 0 7.57908E-5
17-67148553-C-T p.Glu1402Glu synonymous ABCA10 3 80832 3.7114E-5 40416 0 7.96521E-6
17-67148560-A-G p.Met1400Thr missense ABCA10 1 80846 1.23692E-5 40423 0 3.18613E-5
17-67148567-G-T p.His1398Asn missense ABCA10 2 80822 2.47457E-5 40411 0 3.18573E-5
17-67148572-G-A p.Thr1396Ile missense ABCA10 1 80802 1.23759E-5 40401 0 6.37024E-5
17-67148587-C-T p.Arg1391Lys missense ABCA10 1 80770 1.23808E-5 40385 0 NA
17-67148589-C-T p.Glu1390Glu synonymous ABCA10 1 80778 1.23796E-5 40389 0 NA
17-67148602-A-T p.Val1386Asp missense ABCA10 1 80762 1.23821E-5 40381 0 3.99119E-6
17-67148603-C-T p.Val1386Ile missense ABCA10 5 80754 6.19164E-5 40377 0 6.37471E-5
17-67148604-G-A p.Thr1385Thr synonymous ABCA10 1 80748 1.23842E-5 40374 0 1.6556E-5
17-67148621-G-A p.Gln1380* stop_gained ABCA10 1 80702 1.23913E-5 40351 0 NA
17-67148622-C-T p.Trp1379* stop_gained ABCA10 1 80680 1.23946E-5 40340 0 NA
17-67148623-CTAAAGA-C c.4137-7_4137-2delTCTTTA splice_acceptor ABCA10 3 80680 3.71839E-5 40340 0 8.19135E-6
17-67148630-T-C c.4137-8A>G splice_region ABCA10 1 80652 1.23989E-5 40326 0 8.33757E-6
17-67149451-T-C p.Gln1377Gln synonymous ABCA10 1 81034 1.23405E-5 40517 0 1.69768E-5
17-67149458-T-C p.Gln1375Arg missense ABCA10 1 81038 1.23399E-5 40519 0 NA
17-67149465-C-T p.Glu1373Lys missense ABCA10 6 81030 7.40466E-5 40515 0 3.1841E-5
17-67149474-T-A p.Met1370Leu missense ABCA10 2 81010 2.46883E-5 40505 0 8.35589E-6
17-67149477-C-A p.Gly1369Trp missense ABCA10 7 81010 8.64091E-5 40505 0 6.36821E-5
17-67149478-G-C p.Thr1368Thr synonymous ABCA10 4 81012 4.93754E-5 40506 0 1.35913E-4
17-67149478-G-A p.Thr1368Thr synonymous ABCA10 4 81012 4.93754E-5 40506 0 5.00734E-5
17-67149480-TGAAC-T p.Phe1367fs frameshift ABCA10 1 81010 1.23442E-5 40505 0 NA
17-67149483-A-G p.Phe1367Leu missense ABCA10 1 80998 1.2346E-5 40499 0 7.98952E-6
17-67149484-C-T p.Pro1366Pro synonymous ABCA10 761 80990 0.00939622 40495 18 0.0182779
17-67149491-T-C p.Asp1364Gly missense ABCA10 2 81000 2.46914E-5 40500 0 2.49352E-5
17-67149492-C-G p.Asp1364His missense ABCA10 1 81004 1.23451E-5 40502 0 NA
17-67149500-AC-A p.Val1361fs frameshift ABCA10 1 80976 1.23493E-5 40488 0 2.79294E-5
17-67149500-A-G p.Val1361Ala missense ABCA10 3 80976 3.7048E-5 40488 0 NA
17-67149510-G-T p.Pro1358Thr missense ABCA10 2 80946 2.47078E-5 40473 0 8.29311E-6
17-67149513-TC-T p.Asn1357fs frameshift ABCA10 9 80948 1.11182E-4 40474 0 NA
17-67149513-T-A p.Asn1357Tyr missense ABCA10 1 80948 1.23536E-5 40474 0 8.29174E-6
17-67149514-C-T p.Gly1356Gly synonymous ABCA10 1 80950 1.23533E-5 40475 0 2.48748E-5
17-67149522-T-A p.Ile1354Phe missense ABCA10 1 80928 1.23567E-5 40464 0 3.99112E-6
17-67149533-A-G p.Phe1350Ser missense ABCA10 1 80900 1.23609E-5 40450 0 1.197E-5
17-67149540-G-C p.Leu1348Val missense+splice_region ABCA10 9 80896 1.11254E-4 40448 0 4.13986E-4
17-67149547-T-C c.4042-7A>G splice_region ABCA10 15 80878 1.85465E-4 40439 0 5.41815E-4
17-67149606-C-A c.4041+6G>T splice_region ABCA10 4 80756 4.95319E-5 40378 2 1.64902E-5
17-67149613-T-C p.Lys1347Arg missense+splice_region ABCA10 1 80764 1.23818E-5 40382 0 8.24606E-6
17-67149616-C-T p.Arg1346Lys missense ABCA10 2 80780 2.47586E-5 40390 0 1.59276E-4
17-67149625-C-G p.Gly1343Ala missense ABCA10 1 80776 1.23799E-5 40388 0 8.24688E-6
17-67149633-T-A p.Leu1340Leu synonymous ABCA10 56 80776 6.93275E-4 40388 0 6.48808E-4
17-67149647-G-T p.Pro1336Thr missense ABCA10 1 80770 1.23808E-5 40385 0 3.18593E-5
17-67149648-A-G p.Ala1335Ala synonymous ABCA10 1 80772 1.23805E-5 40386 0 NA
17-67149653-T-G p.Lys1334Gln missense ABCA10 1 80784 1.23787E-5 40392 0 8.2545E-6
17-67149656-G-A p.Leu1333Phe missense ABCA10 1 80774 1.23802E-5 40387 0 NA
17-67149663-C-G p.Gln1330His missense ABCA10 5 80756 6.19149E-5 40378 0 6.37105E-5
17-67149666-G-A p.Leu1329Leu synonymous ABCA10 285 80746 0.00352959 40373 2 0.00272741
17-67149669-C-T p.Lys1328Lys synonymous ABCA10 1 80742 1.23851E-5 40371 0 3.18431E-5
17-67149965-T-C c.3965+7A>G splice_region ABCA10 2 80722 2.47764E-5 40361 0 2.53297E-5
17-67149966-CTG-C c.3965+4_3965+5delCA splice_region ABCA10 2 80728 2.47746E-5 40364 0 4.03574E-6
17-67149972-C-T p.Arg1322Gln missense+splice_region ABCA10 1263 80712 0.0156482 40356 18 0.0113803
17-67149972-CG-TA p.Arg1322* stop_gained ABCA10 1 80736 1.2386E-5 40368 0 NA
17-67149973-G-A p.Arg1322* stop_gained ABCA10 5534 80606 0.0686549 40303 258 0.09625
17-67149974-T-C p.Ser1321Ser splice_region+synonymous ABCA10 1 80754 1.23833E-5 40377 0 8.35562E-6
17-67149989-A-T p.Ala1316Ala synonymous ABCA10 1 80770 1.23808E-5 40385 0 NA
17-67149992-A-G p.Asp1315Asp synonymous ABCA10 3 80762 3.71462E-5 40381 0 NA
17-67150002-C-G p.Gly1312Ala missense ABCA10 2 80786 2.47568E-5 40393 0 8.25846E-6
17-67150011-T-C p.Lys1309Arg missense ABCA10 1 80792 1.23775E-5 40396 0 2.42842E-4
17-67150022-A-G p.Tyr1305Tyr synonymous ABCA10 1 80760 1.23824E-5 40380 0 1.19413E-5
17-67150028-C-A p.Glu1303Asp missense ABCA10 1 80748 1.23842E-5 40374 0 NA
17-67150032-A-G p.Leu1302Ser missense ABCA10 1 80730 1.2387E-5 40365 0 7.96052E-6
17-67150046-T-C p.Thr1297Thr synonymous ABCA10 1 80716 1.23891E-5 40358 0 1.99024E-5
17-67150052-C-T p.Lys1295Lys synonymous ABCA10 1 80696 1.23922E-5 40348 0 NA
17-67150057-G-A p.Pro1294Ser missense ABCA10 1 80686 1.23937E-5 40343 0 NA
17-67150058-C-T p.Trp1293* stop_gained ABCA10 1 80676 1.23953E-5 40338 0 2.4717E-5
17-67150062-A-C p.Leu1292Arg missense ABCA10 1 80684 1.2394E-5 40342 0 NA
17-67150063-G-A p.Leu1292Leu synonymous ABCA10 1 80682 1.23943E-5 40341 0 NA
17-67150079-G-A p.Cys1286Cys synonymous ABCA10 2 80658 2.47961E-5 40329 0 1.19435E-5
17-67150082-G-A p.Tyr1285Tyr synonymous ABCA10 1 80638 1.24011E-5 40319 0 3.18715E-5
17-67150084-A-AC p.Tyr1285fs frameshift ABCA10 4 80642 4.96019E-5 40321 0 NA
17-67150086-C-G p.Gly1284Ala missense ABCA10 2 80636 2.48028E-5 40318 0 NA
17-67150094-C-G p.Lys1281Asn missense ABCA10 2 80686 2.47874E-5 40343 0 9.55657E-5
17-67150110-T-C p.His1276Arg missense ABCA10 1 80648 1.23996E-5 40324 0 NA
17-67150118-C-T p.Arg1273Arg synonymous ABCA10 5562 80542 0.0690571 40271 271 0.09625
17-67150121-T-C p.Val1272Val synonymous ABCA10 2 80626 2.48059E-5 40313 0 7.43065E-5
17-67150136-G-C p.Gly1267Gly synonymous ABCA10 386 80574 0.00479063 40287 6 0.00811998
17-67150144-A-C p.Leu1265Val missense ABCA10 4 80550 4.96586E-5 40275 0 1.19773E-5
17-67150151-C-T c.3787-1G>A splice_acceptor ABCA10 13 80514 1.61463E-4 40257 0 9.7729E-4
17-67150373-T-C c.3786+3A>G splice_region ABCA10 1 80632 1.2402E-5 40316 0 NA
17-67150383-GC-AG p.Ala1260Leu missense ABCA10 1 80666 1.23968E-5 40333 0 NA
17-67150386-G-C p.Thr1259Ser missense ABCA10 2 80692 2.47856E-5 40346 0 NA
17-67150388-T-A p.Pro1258Pro synonymous ABCA10 2 80696 2.47844E-5 40348 0 6.37146E-5
17-67150395-G-C p.Thr1256Arg missense ABCA10 2 80736 2.47721E-5 40368 0 3.18654E-5
17-67150398-C-T p.Cys1255Tyr missense ABCA10 1 80734 1.23864E-5 40367 0 4.80939E-5
17-67150409-C-G p.Met1251Ile missense ABCA10 3 80748 3.71526E-5 40374 0 3.18532E-5
17-67150411-T-C p.Met1251Val missense ABCA10 2 80744 2.47696E-5 40372 0 NA
17-67150425-C-CTT p.Ser1246fs frameshift ABCA10 1 80718 1.23888E-5 40359 0 NA
17-67150435-C-T p.Ala1243Thr missense ABCA10 1 80664 1.23971E-5 40332 0 NA
17-67150439-A-G p.Asn1241Asn synonymous ABCA10 2 80654 2.47973E-5 40327 0 3.20821E-5
17-67150444-G-A p.His1240Tyr missense ABCA10 1 80612 1.24051E-5 40306 0 NA
17-67150451-T-C p.Leu1237Leu synonymous ABCA10 1 80576 1.24106E-5 40288 0 8.29449E-6
17-67150465-C-CACCTGGAA p.Glu1233fs frameshift ABCA10 3481 80074 0.0434723 40037 435 0.0876509
17-67151152-GT-G c.3694+7delA splice_region ABCA10 1 80120 1.24813E-5 40060 0 NA
17-67151154-T-C c.3694+6A>G splice_region ABCA10 4 80156 4.99027E-5 40078 0 6.1763E-5
17-67151158-AC-A c.3694+1delG splice_donor ABCA10 1 80210 1.24673E-5 40105 0 NA
17-67151159-C-A c.3694+1G>T splice_donor ABCA10 1 80226 1.24648E-5 40113 0 NA
17-67151160-C-CT p.Gly1232fs frameshift ABCA10 12 80246 1.4954E-4 40123 0 2.55232E-4
17-67151167-AAC-A p.Val1229fs frameshift ABCA10 13 80334 1.61824E-4 40167 0 1.59215E-4
17-67151175-A-C p.Phe1227Val missense ABCA10 1 80434 1.24326E-5 40217 0 NA
17-67151193-C-T p.Ala1221Thr missense ABCA10 2 80558 2.48268E-5 40279 0 1.78075E-5
17-67151201-T-C p.Lys1218Arg missense ABCA10 2 80608 2.48114E-5 40304 0 NA
17-67151207-C-A p.Arg1216Ile missense ABCA10 409 80620 0.00507318 40310 2 0.00456497
17-67151257-G-C p.Ser1199Arg missense ABCA10 1 80640 1.24008E-5 40320 0 NA
17-67151938-C-T c.3576+8G>A splice_region ABCA10 1 80862 1.23667E-5 40431 0 8.24538E-6
17-67151940-G-A c.3576+6C>T splice_region ABCA10 11 80864 1.36031E-4 40432 0 0.001875
17-67151958-T-C p.Pro1188Pro synonymous ABCA10 1 80874 1.23649E-5 40437 0 NA
17-67151965-G-C p.Thr1186Ser missense ABCA10 384 80872 0.00474824 40436 6 0.00812257
17-67151969-G-A p.Leu1185Phe missense ABCA10 14 80880 1.73096E-4 40440 0 4.53757E-4
17-67151989-C-CTTTAATA p.Arg1178fs frameshift ABCA10 1 80878 1.23643E-5 40439 0 NA
17-67151993-C-CTATTTAT p.Glu1177fs frameshift ABCA10 1 80872 1.23652E-5 40436 0 NA
17-67152009-A-G p.Asp1171Asp synonymous ABCA10 12 80842 1.48438E-4 40421 0 4.4603E-4
17-67152009-ATCT-A p.Glu1170del disruptive_inframe_deletion ABCA10 1 80842 1.23698E-5 40421 0 3.29544E-5
17-67152014-C-G p.Glu1170Gln missense ABCA10 1 80818 1.23735E-5 40409 0 NA
17-67152019-TC-CA p.Glu1168* stop_gained ABCA10 2 80788 2.47562E-5 40394 0 NA
17-67152020-C-T p.Glu1168Lys missense ABCA10 18 80762 2.22877E-4 40381 0 1.91107E-4
17-67152021-G-A p.Pro1167Pro synonymous ABCA10 1 80746 1.23845E-5 40373 0 1.19476E-5
17-67152024-C-T p.Glu1166Glu synonymous ABCA10 4 80736 4.95442E-5 40368 0 1.87153E-4
17-67152030-C-T p.Pro1164Pro synonymous ABCA10 14 80696 1.73491E-4 40348 0 8.40502E-4
17-67152031-G-A p.Pro1164Leu missense ABCA10 5 80674 6.19778E-5 40337 0 5.03525E-4
17-67152038-G-A p.Pro1162Ser missense ABCA10 1 80650 1.23993E-5 40325 0 NA
17-67152043-G-C p.Thr1160Ser missense ABCA10 15 80618 1.86063E-4 40309 0 0.00100705
17-67152046-T-G p.Glu1159Ala missense ABCA10 2 80602 2.48133E-5 40301 0 1.91095E-4
17-67152981-T-C p.Pro1149Pro synonymous ABCA10 160 79392 0.00201532 39696 1 0.00297778
17-67152989-T-C p.Lys1147Glu missense ABCA10 2 79676 2.51017E-5 39838 0 NA
17-67152992-T-G p.Asn1146His missense ABCA10 2 79740 2.50815E-5 39870 0 8.71391E-5
17-67153004-T-C p.Asn1142Asp missense ABCA10 1 79906 1.25147E-5 39953 0 NA
17-67153032-G-T p.Val1132Val synonymous ABCA10 2 79956 2.50138E-5 39978 0 NA
17-67153051-C-T p.Ser1126Asn missense ABCA10 25 79708 3.13645E-4 39854 1 0.00251762
17-67153057-AGG-A p.Leu1124fs frameshift ABCA10 1 79654 1.25543E-5 39827 0 NA
17-67153060-TATGGCTAAAAGAAAAGAAAA-T p.Pro1122fs frameshift ABCA10 1 79494 1.25796E-5 39747 0 NA
17-67153064-G-C p.Pro1122Ala missense+splice_region ABCA10 1 79360 1.26008E-5 39680 0 1.40099E-4
17-67153067-A-G c.3364-3T>C splice_region ABCA10 1 79292 1.26116E-5 39646 0 NA
17-67153071-G-T c.3364-7C>A splice_region ABCA10 8 79178 1.01038E-4 39589 0 7.33503E-5
17-67160214-C-T c.3363+1G>A splice_donor ABCA10 1 79304 1.26097E-5 39652 0 NA
17-67160217-T-C p.Ile1121Val missense+splice_region ABCA10 1 79438 1.25884E-5 39719 0 3.18532E-5
17-67160234-ATGGTTTTAT-A p.Asn1112_Thr1114del disruptive_inframe_deletion ABCA10 3 79822 3.75836E-5 39911 0 2.86716E-4
17-67160252-T-C p.Asn1109Ser missense ABCA10 1 80084 1.24869E-5 40042 0 NA
17-67160255-A-T p.Ile1108Lys missense ABCA10 2 80122 2.49619E-5 40061 0 1.66898E-5
17-67160265-C-A p.Asp1105Tyr missense ABCA10 1 80112 1.24825E-5 40056 0 NA
17-67160268-G-A p.Leu1104Leu synonymous ABCA10 1 80088 1.24863E-5 40044 0 NA
17-67160293-G-A p.Leu1095Leu splice_region+synonymous ABCA10 2 79702 2.50935E-5 39851 0 8.39913E-6
17-67160298-G-GA c.3283-4_3283-3insT splice_region ABCA10 1 79838 1.25254E-5 39919 0 1.55892E-4
17-67160301-A-G c.3283-6T>C splice_region ABCA10 1 79900 1.25156E-5 39950 0 NA
17-67161098-T-G c.3282+7A>C splice_region ABCA10 2 80388 2.48793E-5 40194 0 8.25955E-6
17-67161106-T-A p.Gln1094Leu missense+splice_region ABCA10 1 80436 1.24322E-5 40218 0 0.00125
17-67161106-T-C p.Gln1094Arg missense+splice_region ABCA10 1 80436 1.24322E-5 40218 0 8.25559E-6
17-67161107-G-C p.Gln1094Glu missense+splice_region ABCA10 193 80438 0.00239936 40219 1 0.00194826
17-67161117-C-G p.Met1090Ile missense ABCA10 1 80476 1.24261E-5 40238 0 NA
17-67161118-A-G p.Met1090Thr missense ABCA10 2 80488 2.48484E-5 40244 0 NA
17-67161124-T-C p.Tyr1088Cys missense ABCA10 5 80488 6.21211E-5 40244 0 1.59418E-5
17-67161132-C-A p.Leu1085Phe missense ABCA10 1 80502 1.24221E-5 40251 0 NA
17-67161155-T-A p.Ile1078Phe missense ABCA10 2 80538 2.4833E-5 40269 0 6.25E-4
17-67161166-ATTAAG-A p.Leu1073fs frameshift ABCA10 3 80530 3.72532E-5 40265 0 3.58734E-5
17-67161169-A-G p.Leu1073Ser missense ABCA10 1 80532 1.24174E-5 40266 0 8.29696E-6
17-67161176-G-A p.Leu1071Phe missense ABCA10 1 80520 1.24193E-5 40260 0 8.32556E-6
17-67161182-C-T p.Glu1069Lys missense ABCA10 2 80524 2.48373E-5 40262 0 3.98854E-6
17-67161186-T-C p.Gln1067Gln synonymous ABCA10 1 80510 1.24208E-5 40255 0 8.40986E-6
17-67161215-A-G p.Cys1058Arg missense ABCA10 1 80376 1.24415E-5 40188 0 NA
17-67161222-G-T p.Ile1055Ile splice_region+synonymous ABCA10 1 80310 1.24517E-5 40155 0 NA
17-67161228-G-GA c.3163-5_3163-4insT splice_region ABCA10 2 80222 2.49308E-5 40111 0 3.19918E-5
17-67161228-GA-G c.3163-5delT splice_region ABCA10 1 80222 1.24654E-5 40111 0 NA
17-67170401-CACGCATGTATATATACTT-C c.3162+3_3162+20delAAGTATATATACATGCGT splice_region ABCA10 2 79208 2.525E-5 39604 0 NA
17-67170414-A-G c.3162+8T>C splice_region ABCA10 2 80402 2.4875E-5 40201 0 3.44581E-4
17-67170418-T-G c.3162+4A>C splice_region ABCA10 1 80448 1.24304E-5 40224 0 3.18857E-5
17-67170426-A-C p.Phe1053Cys missense ABCA10 7 80578 8.68723E-5 40289 0 1.28414E-5
17-67170445-A-G p.Phe1047Leu missense ABCA10 2 80728 2.47746E-5 40364 0 4.08637E-6
17-67170459-C-T p.Arg1042Lys missense ABCA10 1 80756 1.2383E-5 40378 0 4.05709E-6
17-67170468-C-T p.Arg1039His missense ABCA10 7 80766 8.66701E-5 40383 0 6.62021E-5
17-67170479-T-G p.Ser1035Ser synonymous ABCA10 32 80756 3.96255E-4 40378 0 0.00111543
17-67170491-T-A p.Thr1031Thr synonymous ABCA10 1 80730 1.2387E-5 40365 0 NA
17-67170501-A-G p.Ile1028Thr missense ABCA10 3 80678 3.71849E-5 40339 0 3.18492E-5
17-67170514-C-T p.Ala1024Thr missense ABCA10 1 80602 1.24066E-5 40301 0 NA
17-67170519-C-T p.Gly1022Asp missense ABCA10 28 80584 3.47464E-4 40292 0 8.60475E-4
17-67170530-T-C p.Val1018Val synonymous ABCA10 2 80492 2.48472E-5 40246 0 3.18552E-5
17-67170530-T-G p.Val1018Val synonymous ABCA10 5 80492 6.2118E-5 40246 0 6.64717E-5
17-67170533-C-T p.Val1017Val splice_region+synonymous ABCA10 1 80468 1.24273E-5 40234 0 4.38639E-6
17-67170536-C-T c.3049-1G>A splice_acceptor ABCA10 1 80438 1.24319E-5 40219 0 NA
17-67170696-TTCATTTTGATTCTACTATTATAATTGGCTTGTGGAAAAAATGATCACTTACCAAAACAAA-T p.Phe1014_Leu1016del splice_donor ABCA10 1 79324 1.26065E-5 39662 0 NA
17-67170742-A-C c.3048+6T>G splice_region ABCA10 2 80240 2.49252E-5 40120 0 NA
17-67170755-A-G p.Phe1014Ser missense ABCA10 1 80388 1.24397E-5 40194 0 8.58915E-6
17-67170759-T-A p.Met1013Leu missense ABCA10 1 80382 1.24406E-5 40191 0 NA
17-67170762-G-A p.Leu1012Phe missense ABCA10 3 80356 3.73339E-5 40178 0 4.1791E-6
17-67170783-C-T p.Gly1005Arg missense ABCA10 1 80410 1.24363E-5 40205 0 NA
17-67170799-G-C p.Tyr999* stop_gained ABCA10 2 80522 2.48379E-5 40261 0 1.59297E-4
17-67170800-T-C p.Tyr999Cys missense ABCA10 1 80528 1.2418E-5 40264 0 NA
17-67170807-A-G p.Leu997Leu synonymous ABCA10 1 80546 1.24153E-5 40273 0 2.49422E-5
17-67170809-T-C p.His996Arg missense ABCA10 3 80552 3.7243E-5 40276 0 3.18593E-5
17-67170812-A-G p.Ile995Thr missense ABCA10 3 80558 3.72403E-5 40279 0 3.32358E-5
17-67170825-T-A p.Ile991Phe missense ABCA10 1 80618 1.24042E-5 40309 0 NA
17-67170832-G-A p.Tyr988Tyr synonymous ABCA10 3 80652 3.71968E-5 40326 0 7.98971E-6
17-67170836-A-C p.Leu987* stop_gained ABCA10 7 80676 8.67668E-5 40338 0 1.27437E-4
17-67170838-T-C p.Pro986Pro synonymous ABCA10 7 80670 8.67733E-5 40335 0 2.23029E-4
17-67170841-A-C p.Ile985Met missense ABCA10 7 80654 8.67905E-5 40327 0 5.04032E-4
17-67170856-C-G p.Gln980His missense ABCA10 1 80654 1.23986E-5 40327 0 NA
17-67170863-C-T p.Cys978Tyr missense ABCA10 1 80642 1.24005E-5 40321 0 1.66423E-5
17-67170868-G-A p.Tyr976Tyr synonymous ABCA10 1 80520 1.24193E-5 40260 0 1.6652E-4
17-67170870-A-G p.Tyr976His missense ABCA10 1 80526 1.24183E-5 40263 0 2.498E-5
17-67170872-G-A p.Ala975Val missense ABCA10 1 80522 1.2419E-5 40261 0 NA
17-67170885-G-C p.Leu971Val missense ABCA10 3 80428 3.73004E-5 40214 0 1.83143E-4
17-67170888-C-A p.Gly970Cys missense ABCA10 1 80336 1.24477E-5 40168 0 NA
17-67170902-T-G p.Gln965Pro missense ABCA10 7 80214 8.72666E-5 40107 0 6.72846E-5
17-67170905-G-C p.Ser964Cys missense ABCA10 1 80050 1.24922E-5 40025 0 NA
17-67170912-C-T p.Val962Ile missense ABCA10 1 79986 1.25022E-5 39993 0 3.18573E-5
17-67170924-A-G c.2878-6T>C splice_region ABCA10 3 79732 3.7626E-5 39866 0 3.18634E-5
17-67171535-TCTCC-T c.2877+8_2877+11delGGAG splice_region ABCA10 2 80374 2.48837E-5 40187 0 8.69747E-6
17-67171537-TCC-CCT c.2877+8_2877+10delGGAinsAGG splice_region ABCA10 1 80392 1.2439E-5 40196 0 NA
17-67171539-C-T c.2877+8G>A splice_region ABCA10 1 80438 1.24319E-5 40219 0 NA
17-67171541-TCTTA-T c.2877+2_2877+5delTAAG splice_donor ABCA10 1 80462 1.24282E-5 40231 0 NA
17-67171566-C-T p.Ser953Asn missense ABCA10 1 80606 1.2406E-5 40303 0 NA
17-67171571-G-T p.Gly951Gly synonymous ABCA10 1 80608 1.24057E-5 40304 0 NA
17-67171573-C-T p.Gly951Ser missense ABCA10 4 80612 4.96204E-5 40306 0 6.37146E-5
17-67171574-G-A p.Ile950Ile synonymous ABCA10 1 80602 1.24066E-5 40301 0 3.18613E-5
17-67171580-A-G p.Pro948Pro synonymous ABCA10 1 80656 1.23983E-5 40328 0 NA
17-67171587-AC-A p.Val946fs frameshift ABCA10 5 80676 6.19763E-5 40338 0 9.55414E-5
17-67171588-C-T p.Val946Ile missense ABCA10 6 80660 7.43863E-5 40330 0 6.62669E-5
17-67171589-G-A p.Cys945Cys synonymous ABCA10 2 80646 2.47997E-5 40323 0 2.48505E-5
17-67171589-G-T p.Cys945* stop_gained ABCA10 2 80648 2.47991E-5 40324 0 6.37511E-5
17-67171593-T-C p.Asn944Ser missense ABCA10 13 80664 1.61162E-4 40332 0 2.54842E-4
17-67171609-A-T p.Leu939Met missense ABCA10 1 80674 1.23956E-5 40337 0 NA
17-67171626-A-G p.Ile933Thr missense ABCA10 1 80622 1.24036E-5 40311 0 NA
17-67171632-C-G p.Gly931Ala missense ABCA10 3 80622 3.72107E-5 40311 0 NA
17-67171642-G-A p.Leu928Leu synonymous ABCA10 15 80564 1.86187E-4 40282 0 0.00100705
17-67171643-C-T p.Val927Val synonymous ABCA10 1 80554 1.2414E-5 40277 0 NA
17-67171648-T-C p.Ile926Val missense ABCA10 1 80518 1.24196E-5 40259 0 3.18492E-5
17-67171758-A-G n.163+2T>C splice_donor ABCA10 1 70934 1.40976E-5 35467 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 78740 2.54001E-5 39370 0 6.38896E-5
17-67178296-G-C p.Arg923Gly missense+splice_region ABCA10 3 78954 3.79968E-5 39477 0 3.36905E-5
17-67178298-G-C p.Ser922Cys missense ABCA10 1 79032 1.26531E-5 39516 0 NA
17-67178315-C-T p.Met916Ile missense ABCA10 2 79558 2.51389E-5 39779 0 4.30344E-5
17-67178316-A-G p.Met916Thr missense ABCA10 56647 78324 0.723239 39162 20676 0.746049
17-67178319-T-G p.Gln915Pro missense ABCA10 2 79684 2.50991E-5 39842 0 4.29598E-6
17-67178326-G-A p.Leu913Phe missense ABCA10 1 79908 1.25144E-5 39954 0 8.49675E-6
17-67178332-T-G p.Thr911Pro missense ABCA10 1 80044 1.24931E-5 40022 0 7.45181E-5
17-67178373-A-G p.Met897Thr missense ABCA10 21 80436 2.61077E-4 40218 0 0.00170881
17-67178382-G-A p.Pro894Leu missense ABCA10 1 80284 1.24558E-5 40142 0 3.19326E-5
17-67178407-T-G p.Asn886His missense ABCA10 2 80008 2.49975E-5 40004 0 9.25463E-6
17-67178411-C-T p.Ala884Ala synonymous ABCA10 4 79870 5.00814E-5 39935 0 5.05561E-4
17-67178412-G-A p.Ala884Val missense ABCA10 5 79236 6.31026E-5 39618 0 0.00101112
17-67178412-G-C p.Ala884Gly missense ABCA10 2 79236 2.52411E-5 39618 0 NA
17-67178422-A-T p.Phe881Ile missense ABCA10 23 79214 2.90353E-4 39607 0 7.6555E-4
17-67178432-C-T c.2632-1G>A splice_acceptor ABCA10 1 78838 1.26842E-5 39419 0 NA
17-67178434-T-TG c.2632-4_2632-3insC splice_region ABCA10 2 78660 2.54259E-5 39330 0 1.19136E-5
17-67178434-T-A c.2632-3A>T splice_region ABCA10 2 78662 2.54252E-5 39331 0 1.19136E-5
17-67178435-G-GA c.2632-5_2632-4insT splice_region ABCA10 13 78594 1.65407E-4 39297 0 4.56621E-4
17-67178811-C-T c.2631+5G>A splice_region ABCA10 1 79660 1.25534E-5 39830 0 NA
17-67178813-T-C c.2631+3A>G splice_region ABCA10 102 79690 0.00127996 39845 0 0.00261071
17-67178814-A-G c.2631+2T>C splice_donor ABCA10 1 79716 1.25445E-5 39858 0 NA
17-67178815-C-A c.2631+1G>T splice_donor ABCA10 1 79710 1.25455E-5 39855 0 NA
17-67178816-C-T p.Lys877Lys splice_region+synonymous ABCA10 1 79766 1.25367E-5 39883 0 NA
17-67178835-A-G p.Ile871Thr missense ABCA10 1 80144 1.24775E-5 40072 0 NA
17-67178841-G-T p.Ala869Asp missense ABCA10 1 80204 1.24682E-5 40102 0 3.30213E-5
17-67178846-A-C p.Asn867Lys missense ABCA10 2 80316 2.49016E-5 40158 0 NA
17-67178847-T-C p.Asn867Ser missense ABCA10 1 80326 1.24493E-5 40163 0 4.00141E-6
17-67178849-G-T p.Tyr866* stop_gained ABCA10 1 80348 1.24459E-5 40174 0 9.65003E-5
17-67178855-G-A p.Pro864Pro synonymous ABCA10 1 80446 1.24307E-5 40223 0 NA
17-67178859-T-G p.Asp863Ala missense ABCA10 21 80502 2.60863E-4 40251 0 1.60761E-4
17-67178859-T-A p.Asp863Val missense ABCA10 1 80502 1.24221E-5 40251 0 6.43045E-5
17-67178870-A-G p.Asn859Asn synonymous ABCA10 2 80668 2.4793E-5 40334 0 1.60041E-4
17-67178887-CA-C p.Asp853fs frameshift ABCA10 1 80806 1.23753E-5 40403 0 NA
17-67178897-C-T p.Leu850Leu synonymous ABCA10 1 80830 1.23716E-5 40415 0 NA
17-67178899-A-C p.Leu850Val missense ABCA10 1 80836 1.23707E-5 40418 0 1.64875E-5
17-67178929-C-G p.Val840Leu missense ABCA10 20 80618 2.48084E-4 40309 0 0.004375
17-67178929-C-T p.Val840Met missense ABCA10 1 80618 1.24042E-5 40309 0 3.30246E-5
17-67178930-G-A p.Leu839Leu synonymous ABCA10 28 80636 3.47239E-4 40318 0 5.03525E-4
17-67178945-T-G p.Ser834Ser synonymous ABCA10 3 80472 3.728E-5 40236 0 3.30841E-5
17-67178950-C-T c.2498-1G>A splice_acceptor ABCA10 2 80190 2.49408E-5 40095 0 NA
17-67178954-C-T c.2498-5G>A splice_region ABCA10 54131 76848 0.70439 38424 19230 0.722668
17-67178954-C-A c.2498-5G>T splice_region ABCA10 1 79988 1.25019E-5 39994 0 NA
17-67178954-CAT-C c.2498-7_2498-6delAT splice_region ABCA10 1 79988 1.25019E-5 39994 0 3.58218E-5
17-67181610-T-C c.2497+8A>G splice_region ABCA10 1 80738 1.23857E-5 40369 0 NA
17-67181619-T-G p.Thr832Thr splice_region+synonymous ABCA10 1 80892 1.23622E-5 40446 0 3.18512E-5
17-67181619-T-C p.Thr832Thr splice_region+synonymous ABCA10 2 80892 2.47243E-5 40446 0 1.66692E-5
17-67181630-C-T p.Val829Ile missense ABCA10 8 80928 9.88533E-5 40464 0 3.18756E-5
17-67181630-C-A p.Val829Phe missense ABCA10 1 80928 1.23567E-5 40464 0 NA
17-67181634-T-C p.Leu827Leu synonymous ABCA10 9 80924 1.11215E-4 40462 0 0.00299458
17-67181639-G-A p.Leu826Leu synonymous ABCA10 1 80940 1.23548E-5 40470 0 NA
17-67181658-C-T p.Pro819Pro synonymous ABCA10 1 80944 1.23542E-5 40472 0 7.9621E-6
17-67181660-G-A p.Pro819Ser missense ABCA10 1 80946 1.23539E-5 40473 0 1.65248E-5
17-67181663-T-A p.Ile818Phe missense ABCA10 1 80944 1.23542E-5 40472 0 NA
17-67181664-T-C p.Gln817Gln synonymous ABCA10 1 80944 1.23542E-5 40472 0 NA
17-67181671-AGAGAAAGGAAATACATACTG-A p.Ser809fs frameshift ABCA10 2 80942 2.47091E-5 40471 0 1.91071E-4
17-67181672-GAGA-G p.Ser814del conservative_inframe_deletion ABCA10 1 80942 1.23545E-5 40471 0 NA
17-67181686-A-C p.Met810Arg missense ABCA10 2 80940 2.47097E-5 40470 0 8.25437E-6
17-67181690-T-C p.Ser809Gly missense ABCA10 1 80934 1.23557E-5 40467 0 0.00100705
17-67181690-T-G p.Ser809Arg missense ABCA10 1 80934 1.23557E-5 40467 0 8.25437E-6
17-67181700-C-T p.Glu805Glu synonymous ABCA10 30 80906 3.70801E-4 40453 0 0.00130623
17-67181700-C-G p.Glu805Asp missense ABCA10 1 80910 1.23594E-5 40455 0 3.18593E-5
17-67181702-C-T p.Glu805Lys missense ABCA10 1 80900 1.23609E-5 40450 0 NA
17-67181713-G-A p.Thr801Ile missense ABCA10 1 80908 1.23597E-5 40454 0 1.19435E-5
17-67181719-C-T p.Arg799His missense ABCA10 46 80886 5.68702E-4 40443 0 0.00105129
17-67181720-G-A p.Arg799Cys missense ABCA10 2 80886 2.47262E-5 40443 0 1.81644E-4
17-67181738-T-C p.Ile793Val missense ABCA10 1 80844 1.23695E-5 40422 0 6.36983E-5
17-67181746-A-T p.Leu790Gln missense ABCA10 1 80810 1.23747E-5 40405 0 3.1837E-5
17-67181767-A-G p.Ile783Thr missense ABCA10 8 80650 9.9194E-5 40325 0 9.5511E-5
17-67181786-T-C c.2331-2A>G splice_acceptor ABCA10 1 80144 1.24775E-5 40072 0 8.4448E-6
17-67181786-T-A c.2331-2A>T splice_acceptor ABCA10 3 80144 3.74326E-5 40072 1 NA
17-67181790-T-C c.2331-6A>G splice_region ABCA10 1 79980 1.25031E-5 39990 0 3.38908E-5
17-67183819-C-A c.2330+3G>T splice_region ABCA10 3 80936 3.70663E-5 40468 0 3.58449E-5
17-67183821-C-T c.2330+1G>A splice_donor ABCA10 4 80940 4.94193E-5 40470 0 2.47476E-5
17-67183846-C-T p.Arg769His missense ABCA10 1 80940 1.23548E-5 40470 0 1.56582E-4
17-67183864-C-T p.Arg763His missense ABCA10 1 80932 1.23561E-5 40466 0 3.97912E-6
17-67183865-G-C p.Arg763Gly missense ABCA10 16 80936 1.97687E-4 40468 1 1.51203E-4
17-67183865-G-A p.Arg763Cys missense ABCA10 5 80936 6.17772E-5 40468 0 6.37186E-5
17-67183874-C-T p.Ala760Thr missense ABCA10 2 80916 2.4717E-5 40458 0 3.29582E-5
17-67183876-A-G p.Val759Ala missense ABCA10 1 80908 1.23597E-5 40454 0 3.97871E-6
17-67183882-T-C p.Tyr757Cys missense ABCA10 2 80882 2.47274E-5 40441 0 3.18451E-5
17-67183883-A-G p.Tyr757His missense ABCA10 1 80882 1.23637E-5 40441 0 3.18492E-5
17-67183891-C-T p.Arg754Gln missense ABCA10 1 80886 1.23631E-5 40443 0 2.47231E-5
17-67183892-G-A p.Arg754* stop_gained ABCA10 8 80888 9.89022E-5 40444 0 5.35676E-4
17-67183893-T-G p.Arg753Ser missense ABCA10 3 80896 3.70847E-5 40448 0 2.78507E-5
17-67183923-T-C p.Arg743Arg synonymous ABCA10 1 80890 1.23625E-5 40445 0 NA
17-67183925-T-A p.Arg743* stop_gained ABCA10 1 80884 1.23634E-5 40442 0 4.77487E-5
17-67183926-T-G p.Thr742Thr synonymous ABCA10 1 80886 1.23631E-5 40443 0 NA
17-67183937-G-A p.Leu739Phe missense ABCA10 1 80886 1.23631E-5 40443 0 NA
17-67183939-G-T p.Ser738Tyr missense ABCA10 35 80888 4.32697E-4 40444 0 3.82507E-4
17-67183940-A-C p.Ser738Ala missense ABCA10 2 80890 2.47249E-5 40445 0 NA
17-67183948-AC-A p.Val735fs frameshift ABCA10 1 80910 1.23594E-5 40455 0 NA
17-67183948-A-G p.Val735Ala missense ABCA10 1 80910 1.23594E-5 40455 0 3.97924E-6
17-67183949-C-G p.Val735Leu missense ABCA10 1 80904 1.23603E-5 40452 0 NA
17-67183950-C-T p.Gln734Gln synonymous ABCA10 2 80906 2.472E-5 40453 0 1.1938E-5
17-67183951-T-C p.Gln734Arg missense ABCA10 1 80912 1.23591E-5 40456 0 NA
17-67183953-T-C p.Glu733Glu synonymous ABCA10 7 80908 8.6518E-5 40454 0 5.77358E-5
17-67183971-T-C p.Gly727Gly synonymous ABCA10 1 80898 1.23612E-5 40449 0 NA
17-67183981-C-T p.Arg724Lys missense ABCA10 1 80882 1.23637E-5 40441 0 NA
17-67183981-CT-C p.Arg724fs frameshift ABCA10 1 80882 1.23637E-5 40441 0 1.65338E-5
17-67183982-T-C p.Arg724Gly missense ABCA10 1 80882 1.23637E-5 40441 0 3.98051E-6
17-67183984-G-A p.Thr723Ile missense ABCA10 7 80882 8.65458E-5 40441 0 9.5645E-5
17-67183994-T-A p.Ile720Leu missense ABCA10 1 80862 1.23667E-5 40431 0 NA
17-67184000-CTT-C p.Gln717fs frameshift ABCA10 3 80846 3.71076E-5 40423 0 1.91119E-4
17-67184008-C-A p.Gly715Val missense ABCA10 9 80816 1.11364E-4 40408 0 2.5481E-4
17-67186505-C-T p.Glu709Lys missense ABCA10 29 80142 3.61858E-4 40071 0 0.001875
17-67186505-C-G p.Glu709Gln missense ABCA10 1 80142 1.24779E-5 40071 0 5.17475E-6
17-67186527-T-G p.Leu701Leu synonymous ABCA10 2 80332 2.48967E-5 40166 0 NA
17-67186560-T-G p.Ser690Ser synonymous ABCA10 1 80490 1.24239E-5 40245 0 9.09316E-5
17-67186578-T-G p.Ile684Ile synonymous ABCA10 2 80474 2.48527E-5 40237 0 2.48012E-5
17-67186580-T-C p.Ile684Val missense ABCA10 1 80472 1.24267E-5 40236 0 8.26747E-6
17-67186589-C-T p.Asp681Asn missense ABCA10 1 80418 1.2435E-5 40209 0 8.27061E-6
17-67186596-C-T p.Lys678Lys synonymous ABCA10 2 80396 2.48769E-5 40198 0 NA
17-67186600-T-A p.Asp677Val missense ABCA10 7 80354 8.71145E-5 40177 0 9.56023E-5
17-67186605-G-A p.Asp675Asp synonymous ABCA10 1 80310 1.24517E-5 40155 0 3.1902E-5
17-67186610-T-C p.Ser674Gly missense ABCA10 1 80280 1.24564E-5 40140 0 6.37308E-5
17-67186620-T-C c.2012-2A>G splice_acceptor ABCA10 8 80146 9.98178E-5 40073 0 5.56321E-4
17-67186623-A-G c.2012-5T>C splice_region ABCA10 5 80128 6.24002E-5 40064 0 NA
17-67187314-T-TA c.2011+2_2011+3insT splice_donor ABCA10 14 79810 1.75417E-4 39905 0 7.31422E-5
17-67187317-C-G p.Asp671His missense+splice_region ABCA10 3 79808 3.75902E-5 39904 0 3.18552E-5
17-67187318-T-C p.Pro670Pro splice_region+synonymous ABCA10 3 79838 3.75761E-5 39919 0 6.37105E-5
17-67187340-A-G p.Leu663Ser missense ABCA10 34 79952 4.25255E-4 39976 0 0.00213165
17-67187351-A-G p.Tyr659Tyr synonymous ABCA10 1 80284 1.24558E-5 40142 0 3.18492E-5
17-67187354-T-C p.Val658Val synonymous ABCA10 1 80288 1.24552E-5 40144 0 NA
17-67187359-G-A p.Leu657Phe missense ABCA10 1 80362 1.24437E-5 40181 0 4.07136E-6
17-67187383-A-G p.Leu649Leu synonymous ABCA10 1 80336 1.24477E-5 40168 0 NA
17-67187388-G-C p.Ala647Gly missense ABCA10 7 80322 8.71492E-5 40161 0 6.25391E-4
17-67187388-G-A p.Ala647Val missense ABCA10 1 80322 1.24499E-5 40161 0 6.25391E-4
17-67187394-G-A p.Pro645Leu missense ABCA10 1 80364 1.24434E-5 40182 0 4.05729E-6
17-67187395-G-A p.Pro645Ser missense ABCA10 7 80334 8.71362E-5 40167 0 5.27555E-5
17-67187397-A-G p.Ile644Thr missense ABCA10 2 80484 2.48497E-5 40242 0 3.18451E-5
17-67187410-T-A p.Ile640Phe missense ABCA10 1 80496 1.2423E-5 40248 0 NA
17-67187418-G-A p.Thr637Ile missense ABCA10 3 80338 3.73422E-5 40169 0 2.84123E-5
17-67187425-T-C p.Lys635Glu missense ABCA10 2 80336 2.48954E-5 40168 0 NA
17-67187429-T-C p.Thr633Thr synonymous ABCA10 2 80312 2.49029E-5 40156 0 6.36821E-5
17-67187432-G-C p.Asp632Glu missense ABCA10 1 80032 1.2495E-5 40016 0 4.1559E-6
17-67187447-C-A p.Arg627Ser missense ABCA10 1 79388 1.25964E-5 39694 0 NA
17-67187453-T-A p.Leu625Phe missense ABCA10 1 78862 1.26804E-5 39431 0 8.99459E-6
17-67187457-C-T c.1872-1G>A splice_acceptor ABCA10 1 78580 1.27259E-5 39290 0 8.54759E-6
17-67188700-A-G c.1871+4T>C splice_region ABCA10 1 80464 1.24279E-5 40232 0 NA
17-67188700-A-C c.1871+4T>G splice_region ABCA10 1 80464 1.24279E-5 40232 0 NA
17-67188701-T-C c.1871+3A>G splice_region ABCA10 1 80468 1.24273E-5 40234 0 1.6655E-5
17-67188722-C-A p.Gly618Val missense ABCA10 2 80602 2.48133E-5 40301 0 3.18695E-5
17-67188731-C-T p.Arg615Gln missense ABCA10 77 80612 9.55193E-4 40306 0 5.41643E-4
17-67188732-G-A p.Arg615* stop_gained ABCA10 4 80606 4.96241E-5 40303 0 1.49735E-4
17-67188733-C-T p.Lys614Lys synonymous ABCA10 1 80614 1.24048E-5 40307 0 NA
17-67188759-A-G p.Cys606Arg missense ABCA10 1 80546 1.24153E-5 40273 0 1.20186E-5
17-67188790-C-T p.Arg595Arg synonymous ABCA10 1 80116 1.24819E-5 40058 0 8.35492E-6
17-67188793-A-C p.Asp594Glu missense+splice_region ABCA10 2 80046 2.49856E-5 40023 0 8.36456E-6
17-67188795-C-T c.1781-1G>A splice_acceptor ABCA10 1 79986 1.25022E-5 39993 0 3.18532E-5
17-67188802-G-A c.1781-8C>T splice_region ABCA10 1 79804 1.25307E-5 39902 0 NA
17-67189246-A-T c.1780+5T>A splice_region ABCA10 2 80776 2.47598E-5 40388 0 NA
17-67189260-T-C p.Ile591Val missense ABCA10 1 80854 1.2368E-5 40427 0 NA
17-67189276-GA-G p.Phe585fs frameshift ABCA10 4 80896 4.94462E-5 40448 0 3.1837E-5
17-67189279-T-C p.Gln584Gln synonymous ABCA10 1 80926 1.2357E-5 40463 0 8.25818E-6
17-67189286-CT-C p.Ser582fs frameshift ABCA10 1 80986 1.23478E-5 40493 0 NA
17-67189287-T-C p.Ser582Gly missense ABCA10 1 80992 1.23469E-5 40496 0 NA
17-67189292-A-G p.Leu580Pro missense ABCA10 1 81006 1.23448E-5 40503 0 NA
17-67189293-G-T p.Leu580Ile missense ABCA10 1 81032 1.23408E-5 40516 0 NA
17-67189293-G-A p.Leu580Phe missense ABCA10 1 81032 1.23408E-5 40516 0 9.89674E-5
17-67189301-C-T p.Arg577Gln missense ABCA10 1 81036 1.23402E-5 40518 0 0.001875
17-67189302-G-A p.Arg577* stop_gained ABCA10 540 81032 0.00666403 40516 8 0.0136306
17-67189323-G-C p.Leu570Val missense ABCA10 1 81056 1.23371E-5 40528 0 NA
17-67189338-G-A p.Arg565* stop_gained ABCA10 2 81056 2.46743E-5 40528 0 3.18492E-5
17-67189339-G-A p.His564His synonymous ABCA10 1 81054 1.23375E-5 40527 0 1.15393E-4
17-67189351-G-C p.Pro560Pro synonymous ABCA10 3 81064 3.70078E-5 40532 0 6.25E-4
17-67189352-G-A p.Pro560Leu missense ABCA10 1 81062 1.23362E-5 40531 0 8.24525E-6
17-67189354-A-G p.Asp559Asp synonymous ABCA10 3 81064 3.70078E-5 40532 0 3.18573E-5
17-67189359-A-G p.Leu558Leu synonymous ABCA10 2 81056 2.46743E-5 40528 0 1.64976E-5
17-67189360-T-C p.Gly557Gly synonymous ABCA10 1 81056 1.23371E-5 40528 0 NA
17-67189361-C-A p.Gly557Val missense ABCA10 1 81058 1.23368E-5 40529 0 3.18573E-5
17-67189367-G-A p.Thr555Ile missense ABCA10 1 81046 1.23387E-5 40523 0 NA
17-67189368-T-A p.Thr555Ser missense ABCA10 1 81050 1.23381E-5 40525 0 4.00138E-6
17-67189368-T-C p.Thr555Ala missense ABCA10 1 81050 1.23381E-5 40525 0 2.47778E-5
17-67189376-T-C p.Asp552Gly missense ABCA10 1 81046 1.23387E-5 40523 0 NA
17-67189380-G-A p.Leu551Leu synonymous ABCA10 1 81044 1.2339E-5 40522 0 9.55657E-5
17-67189382-A-C p.Leu550Arg missense ABCA10 1 81042 1.23393E-5 40521 0 5.03525E-4
17-67189638-G-T p.Pro546His missense ABCA10 1 80844 1.23695E-5 40422 0 NA
17-67189651-T-C p.Ile542Val missense ABCA10 1 80880 1.2364E-5 40440 0 NA
17-67189667-T-C p.Leu536Leu synonymous ABCA10 690 80884 0.00853074 40442 14 0.0164968
17-67189672-T-G p.Lys535Gln missense ABCA10 6 80898 7.41675E-5 40449 1 1.27389E-4
17-67189690-T-C p.Ser529Gly missense ABCA10 4 80888 4.94511E-5 40444 0 6.37064E-5
17-67189724-C-T p.Met517Ile missense ABCA10 1 80806 1.23753E-5 40403 0 NA
17-67189739-T-G p.Asn454His missense ABCA10 1 80720 1.23885E-5 40360 0 3.1841E-5
17-67189740-ATAAT-A p.Ile511fs frameshift ABCA10 2 80720 2.4777E-5 40360 0 NA
17-67189743-AT-A p.Ile511fs frameshift ABCA10 2 80704 2.47819E-5 40352 0 NA
17-67189744-TTC-T p.Arg510fs frameshift ABCA10 11 80700 1.36307E-4 40350 0 7.37914E-5
17-67189746-C-A p.Arg510Ile missense ABCA10 1 80692 1.23928E-5 40346 0 NA
17-67189751-T-TA p.Arg510fs frameshift ABCA10 1 80672 1.23959E-5 40336 0 NA
17-67189752-A-G p.Val508Ala missense+splice_region ABCA10 5 80666 6.1984E-5 40333 0 3.18837E-5
17-67189752-A-T p.Val508Glu missense+splice_region ABCA10 8 80666 9.91744E-5 40333 0 0.00250627
17-67189948-C-A c.1521+7G>T splice_region ABCA10 1 80826 1.23723E-5 40413 0 NA
17-67189951-G-A c.1521+4C>T splice_region ABCA10 22 80832 2.72169E-4 40416 0 7.6477E-4
17-67189954-C-T c.1521+1G>A splice_donor ABCA10 1 80842 1.23698E-5 40421 0 1.19735E-5
17-67189958-T-C p.Gln506Gln synonymous ABCA10 3 80852 3.71048E-5 40426 0 8.24063E-6
17-67189959-T-C p.Gln506Arg missense ABCA10 2 80858 2.47347E-5 40429 0 3.18471E-5
17-67189973-T-C p.Pro501Pro synonymous ABCA10 373 80858 0.00461303 40429 8 0.00928117
17-67189976-C-T p.Gln500Gln synonymous ABCA10 1 80870 1.23655E-5 40435 0 NA
17-67189982-C-T p.Gly498Gly synonymous ABCA10 2 80872 2.47304E-5 40436 0 1.64804E-5
17-67189988-T-C p.Ile496Met missense ABCA10 2 80886 2.47262E-5 40443 0 NA
17-67189993-T-C p.Lys495Glu missense ABCA10 1 80888 1.23628E-5 40444 0 NA
17-67190004-C-T p.Arg491Lys missense ABCA10 1 80876 1.23646E-5 40438 0 3.29717E-5
17-67190005-T-C p.Arg491Gly missense ABCA10 1 80878 1.23643E-5 40439 0 NA
17-67190006-G-A p.Leu490Leu synonymous ABCA10 1 80882 1.23637E-5 40441 0 NA
17-67190009-G-GT p.Asn489fs frameshift ABCA10 1 80878 1.23643E-5 40439 0 8.24294E-6
17-67190020-C-T p.Val486Met missense ABCA10 1 80870 1.23655E-5 40435 0 1.64883E-5
17-67190023-T-C p.Thr485Ala missense ABCA10 4 80868 4.94633E-5 40434 0 8.24416E-5
17-67190027-G-T p.Phe483Leu missense ABCA10 3 80864 3.70993E-5 40432 0 1.9921E-5
17-67190043-T-C p.Asn478Ser missense ABCA10 12 80864 1.48397E-4 40432 0 3.58343E-5
17-67190056-A-G p.Cys474Arg missense ABCA10 2 80844 2.4739E-5 40422 0 2.47521E-5
17-67190060-T-A p.Gly472Gly synonymous ABCA10 5 80846 6.1846E-5 40423 0 0.00159266
17-67190065-T-C p.Ile471Val missense ABCA10 3 80828 3.71158E-5 40414 0 1.65074E-5
17-67190085-A-C p.Met464Arg missense ABCA10 1 80820 1.23732E-5 40410 0 8.26487E-6
17-67190089-C-T p.Asp463Asn missense ABCA10 1 80822 1.23729E-5 40411 0 2.48168E-5
17-67190107-G-A p.Gln457* stop_gained ABCA10 1 80780 1.23793E-5 40390 0 4.03894E-6
17-67190111-A-G p.Asn455Asn synonymous ABCA10 2 80760 2.47647E-5 40380 0 2.04432E-5
17-67190114-A-G p.Tyr454Tyr synonymous ABCA10 375 80726 0.00464534 40363 4 0.00832843
17-67190117-AAT-A p.Ile453fs frameshift ABCA10 3653 80616 0.0453136 40308 445 0.0907961
17-67190122-T-C p.Thr452Ala missense ABCA10 2 80672 2.47917E-5 40336 0 4.1248E-6
17-67190128-A-G p.Ser450Pro missense+splice_region ABCA10 2 80634 2.48034E-5 40317 0 0.0025227
17-67190524-A-G c.1345+2T>C splice_donor ABCA10 2 80584 2.48188E-5 40292 0 5.27204E-5
17-67190536-AACAG-A p.Ser444fs frameshift ABCA10 5543 80550 0.0688144 40275 263 0.0804705
17-67190540-G-A p.Ser444Phe missense ABCA10 1 79890 1.25172E-5 39945 0 NA
17-67190543-A-C p.Leu443Trp missense ABCA10 4 80672 4.95835E-5 40336 0 1.649E-5
17-67190544-A-G p.Leu443Leu synonymous ABCA10 2 80680 2.47893E-5 40340 0 3.9847E-6
17-67190547-C-T p.Gly442Arg missense ABCA10 1 80688 1.23934E-5 40344 0 NA
17-67190559-T-A p.Asn438Tyr missense ABCA10 3 80720 3.71655E-5 40360 0 3.18451E-5
17-67190568-T-C p.Thr435Ala missense ABCA10 104 80722 0.00128837 40361 1 0.00235609
17-67190583-C-T p.Gly430Arg missense ABCA10 1 80736 1.2386E-5 40368 0 NA
17-67190587-A-G p.His428His synonymous ABCA10 15 80736 1.85791E-4 40368 0 1.19461E-5
17-67190592-C-T p.Gly427Arg missense ABCA10 1 80734 1.23864E-5 40367 0 NA
17-67190599-T-C p.Ala424Ala synonymous ABCA10 1 80738 1.23857E-5 40369 0 1.19528E-5
17-67190600-G-T p.Ala424Glu missense ABCA10 1 80728 1.23873E-5 40364 0 NA
17-67190605-G-A p.Ile422Ile synonymous ABCA10 1 80726 1.23876E-5 40363 0 3.98928E-6
17-67190606-A-G p.Ile422Thr missense ABCA10 1 80716 1.23891E-5 40358 0 7.97792E-6
17-67190619-A-G p.Tyr418His missense ABCA10 85 80542 0.00105535 40271 0 0.00213403
17-67190622-T-C p.Ile417Val missense ABCA10 1 80484 1.24248E-5 40242 0 3.18573E-5
17-67190631-A-C p.Phe414Val missense ABCA10 1 80416 1.24353E-5 40208 0 NA
17-67190634-T-C p.Ile413Val missense+splice_region ABCA10 2 80402 2.4875E-5 40201 0 3.18471E-5
17-67190636-C-A p.Gly412Val missense+splice_region ABCA10 1 80364 1.24434E-5 40182 0 4.15179E-6
17-67190637-CTGTT-C c.1235-5_1235-2delAACA splice_acceptor ABCA10 2 80374 2.48837E-5 40187 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 1 584 0.00171233 292 0 0.00260417
17-67193206-T-G p.Gln411His missense+splice_region ABCA10 1 79340 1.2604E-5 39670 0 2.00908E-5
17-67193219-A-G p.Val407Ala missense ABCA10 3 79770 3.76081E-5 39885 0 1.73369E-5
17-67193229-T-G p.Thr404Pro missense ABCA10 1 79946 1.25084E-5 39973 0 1.05285E-4
17-67193236-AT-A p.Asn401fs frameshift ABCA10 1 80012 1.24981E-5 40006 0 NA
17-67193240-T-C p.Tyr400Cys missense ABCA10 1 80058 1.24909E-5 40029 0 NA
17-67193253-C-T p.Val396Ile missense ABCA10 1 80090 1.2486E-5 40045 0 NA
17-67193269-A-G c.1176-6T>C splice_region ABCA10 2 80052 2.49838E-5 40026 0 NA
17-67197635-A-T c.1175+6T>A splice_region ABCA10 3 80116 3.74457E-5 40058 0 3.32611E-5
17-67197635-A-C c.1175+6T>G splice_region ABCA10 1 80116 1.24819E-5 40058 0 NA
17-67197650-TC-T p.Glu389fs frameshift ABCA10 1 80576 1.24106E-5 40288 0 NA
17-67197656-C-T p.Gly387Glu missense ABCA10 1 80604 1.24063E-5 40302 0 9.49586E-5
17-67197668-G-A p.Pro383Leu missense ABCA10 8 80778 9.90369E-5 40389 0 6.77978E-5
17-67197675-C-A p.Val381Leu missense ABCA10 2 80812 2.47488E-5 40406 0 3.27065E-5
17-67197676-C-T p.Pro380Pro synonymous ABCA10 2 80806 2.47506E-5 40403 0 3.18756E-5
17-67197677-G-A p.Pro380Leu missense ABCA10 1 80800 1.23762E-5 40400 0 6.37511E-5
17-67197683-A-C p.Phe378Cys missense ABCA10 1 80846 1.23692E-5 40423 0 5.83022E-5
17-67197686-G-C p.Ser377Cys missense ABCA10 1 80866 1.23661E-5 40433 0 NA
17-67197687-A-T p.Ser377Thr missense ABCA10 1 80876 1.23646E-5 40438 0 NA
17-67197701-T-G p.His372Pro missense ABCA10 701 80926 0.00866223 40463 14 0.0169567
17-67197706-A-G p.Pro370Pro synonymous ABCA10 2 80942 2.47091E-5 40471 0 8.00653E-6
17-67197714-T-G p.Ile368Leu missense ABCA10 1 80944 1.23542E-5 40472 0 NA
17-67197732-C-T p.Glu362Lys missense ABCA10 1 80964 1.23512E-5 40482 0 8.26282E-6
17-67197733-A-G p.His361His synonymous ABCA10 2 80964 2.47023E-5 40482 0 NA
17-67197761-A-C p.Phe352Cys missense ABCA10 1 80948 1.23536E-5 40474 0 NA
17-67197773-A-G p.Leu348Pro missense ABCA10 3 80914 3.70764E-5 40457 0 3.18532E-5
17-67197773-A-C p.Leu348Arg missense ABCA10 3 80914 3.70764E-5 40457 0 8.33278E-6
17-67197782-A-C p.Leu345* stop_gained ABCA10 1 80898 1.23612E-5 40449 0 3.18552E-5
17-67197793-C-A p.Gly341Gly synonymous ABCA10 1 80822 1.23729E-5 40411 0 1.25075E-5
17-67197803-T-C p.Asp338Gly missense ABCA10 1 80770 1.23808E-5 40385 0 4.24387E-6
17-67210846-A-G p.Pro335Pro splice_region+synonymous ABCA10 2 79644 2.51117E-5 39822 0 NA
17-67210856-C-T p.Arg332Gln missense ABCA10 33 79822 4.1342E-4 39911 0 0.00253293
17-67210857-G-C p.Arg332Gly missense ABCA10 1 79814 1.25291E-5 39907 0 8.58192E-6
17-67210860-C-A p.Glu331* stop_gained ABCA10 1 79954 1.25072E-5 39977 0 6.04639E-6
17-67210869-A-T p.Leu328Ile missense ABCA10 1 80120 1.24813E-5 40060 0 NA
17-67210880-A-C p.Leu324Trp missense ABCA10 2 80318 2.4901E-5 40159 0 NA
17-67210909-G-GA p.Ile315fs frameshift ABCA10 2 80340 2.48942E-5 40170 0 1.19366E-5
17-67210911-A-C p.Phe314Val missense ABCA10 1 80336 1.24477E-5 40168 0 NA
17-67210924-C-CA p.Met309fs frameshift ABCA10 2 80174 2.49457E-5 40087 0 6.66689E-5
17-67210947-G-T p.Pro302Thr missense ABCA10 1 80108 1.24831E-5 40054 0 NA
17-67210950-C-G p.Asp301His missense ABCA10 1 80068 1.24894E-5 40034 0 NA
17-67210986-G-A p.His289Tyr missense ABCA10 4 79414 5.0369E-5 39707 0 8.40407E-6
17-67210992-T-C p.Ile287Val missense+splice_region ABCA10 21412 72642 0.294761 36321 2444 0.372123
17-67210993-C-G c.859-1G>C splice_acceptor ABCA10 1 79046 1.26509E-5 39523 0 NA
17-67211593-A-T c.*89T>A splice_region ABCA10 13 18482 7.03387E-4 9241 0 9.87324E-4
17-67211684-T-C c.411-2A>G splice_acceptor ABCA10 4 37286 1.07279E-4 18643 0 1.91107E-4
17-67211956-C-G p.Gln286His missense+splice_region ABCA10 2 80008 2.49975E-5 40004 0 NA
17-67211961-C-T p.Ala285Thr missense ABCA10 1 80080 1.24875E-5 40040 0 NA
17-67211977-G-C p.Ala279Ala synonymous ABCA10 1 80570 1.24116E-5 40285 0 NA
17-67211985-G-T p.Pro277Thr missense ABCA10 224 80764 0.00277351 40382 1 0.0060423
17-67211991-G-C p.Leu275Val missense ABCA10 2 80852 2.47366E-5 40426 0 NA
17-67212003-C-G p.Val271Leu missense ABCA10 7 80936 8.64881E-5 40468 0 9.98259E-5
17-67212003-C-A p.Val271Leu missense ABCA10 2 80936 2.47109E-5 40468 0 3.99304E-6
17-67212007-T-C p.Gly269Gly synonymous ABCA10 10 80934 1.23557E-4 40467 0 2.23129E-4
17-67212031-A-G p.Tyr261Tyr synonymous ABCA10 47324 80428 0.588402 40214 14333 0.647727
17-67212031-A-T p.Tyr261* stop_gained ABCA10 2279 80932 0.0281594 40466 169 0.053324
17-67212031-AT-GC p.Tyr261Cys missense ABCA10 1 80972 1.23499E-5 40486 0 NA
17-67212041-G-A p.Thr258Ile missense ABCA10 1 80976 1.23493E-5 40488 0 1.65041E-5
17-67212066-C-T p.Val250Ile missense ABCA10 2 80978 2.46981E-5 40489 0 9.55231E-5
17-67212089-C-T p.Gly242Asp missense ABCA10 2 80936 2.47109E-5 40468 0 NA
17-67212093-C-T p.Ala241Thr missense ABCA10 4 80908 4.94389E-5 40454 0 8.75964E-5
17-67212123-T-C p.Met231Val missense ABCA10 7 80794 8.66401E-5 40397 0 5.41367E-4
17-67212123-T-A p.Met231Leu missense ABCA10 1 80794 1.23772E-5 40397 0 3.18451E-5
17-67212136-T-C p.Ala226Ala synonymous ABCA10 1 80688 1.23934E-5 40344 0 NA
17-67212141-T-G p.Ile225Leu missense+splice_region ABCA10 1 80650 1.23993E-5 40325 0 0.00100705
17-67212142-C-G c.673-1G>C splice_acceptor ABCA10 4 80658 4.95921E-5 40329 0 0.00375
17-67212145-A-T c.673-4T>A splice_region ABCA10 25 80612 3.10128E-4 40306 0 9.23626E-4
17-67212352-A-G c.672+6T>C splice_region ABCA10 10 80744 1.23848E-4 40372 0 9.55475E-5
17-67212366-GGCCATATAA-G p.Leu219_Gly221del conservative_inframe_deletion ABCA10 85 80822 0.00105169 40411 0 0.00113205
17-67212374-A-AAGCTAT p.Tyr217_Ser218dup conservative_inframe_insertion ABCA10 3 80842 3.71094E-5 40421 0 1.60129E-5
17-67212377-CTA-C p.Tyr217fs frameshift ABCA10 2 80852 2.47366E-5 40426 0 8.2916E-6
17-67212390-A-G p.Phe214Leu missense ABCA10 49 80852 6.06046E-4 40426 0 0.00276432
17-67212401-A-G p.Phe210Ser missense ABCA10 3 80856 3.7103E-5 40428 0 4.77897E-5
17-67212407-G-A p.Thr208Ile missense ABCA10 2 80872 2.47304E-5 40436 0 3.98213E-6
17-67212408-T-C p.Thr208Ala missense ABCA10 1 80872 1.23652E-5 40436 0 8.2496E-6
17-67212409-A-G p.His207His synonymous ABCA10 38 80866 4.69913E-4 40433 0 4.3401E-4
17-67212409-A-T p.His207Gln missense ABCA10 4 80866 4.94645E-5 40433 0 8.75984E-5
17-67212415-T-C p.Val205Val synonymous ABCA10 4 80868 4.94633E-5 40434 0 6.25E-4
17-67212419-A-G p.Ile204Thr missense ABCA10 5 80880 6.182E-5 40440 0 4.9478E-5
17-67212423-G-A p.Pro203Ser missense ABCA10 51084 80598 0.633812 40299 16303 0.65005
17-67212423-G-T p.Pro203Thr missense ABCA10 2 80864 2.47329E-5 40432 0 3.98864E-6
17-67212452-A-G p.Ile193Thr missense ABCA10 1 80880 1.2364E-5 40440 0 NA
17-67212457-C-T p.Met191Ile missense ABCA10 15 80878 1.85465E-4 40439 0 2.06519E-4
17-67212487-T-C p.Gly181Gly synonymous ABCA10 2 80890 2.47249E-5 40445 0 3.1837E-5
17-67212488-C-A p.Gly181Val missense ABCA10 2 80894 2.47237E-5 40447 0 NA
17-67212499-C-CATAG c.531-1_531insCTAT splice_acceptor ABCA10 1 80862 1.23667E-5 40431 0 NA
17-67215680-A-G c.530+6T>C splice_region ABCA10 1 79786 1.25335E-5 39893 0 8.92889E-6
17-67215685-C-T c.530+1G>A splice_donor ABCA10 1 79846 1.25241E-5 39923 0 NA
17-67215701-C-T p.Arg172Gln missense ABCA10 2 80278 2.49134E-5 40139 0 8.61579E-6
17-67215702-G-A p.Arg172* stop_gained ABCA10 110 80246 0.00137078 40123 0 0.00385571
17-67215712-C-T p.Val168Val synonymous ABCA10 51510 80126 0.642862 40063 16688 0.653535
17-67215716-G-A p.Thr167Ile missense ABCA10 2 80552 2.48287E-5 40276 0 NA
17-67215717-T-C p.Thr167Ala missense ABCA10 5 80560 6.20655E-5 40280 0 5.05051E-4
17-67215733-T-A p.Lys161Asn missense ABCA10 1 80622 1.24036E-5 40311 0 NA
17-67215742-T-G p.Glu158Asp missense ABCA10 1 80634 1.24017E-5 40317 0 4.02765E-6
17-67215746-C-T p.Arg157Lys missense ABCA10 43 80666 5.33062E-4 40333 0 5.54718E-4
17-67215768-A-G p.Phe150Leu missense ABCA10 1 80718 1.23888E-5 40359 0 NA
17-67215772-T-C p.Ile148Met missense ABCA10 1 80716 1.23891E-5 40358 0 8.28199E-6
17-67215774-T-A p.Ile148Leu missense ABCA10 2 80730 2.47739E-5 40365 0 4.82664E-5
17-67215774-T-C p.Ile148Val missense ABCA10 2 80730 2.47739E-5 40365 0 5.04032E-4
17-67215776-AAAG-A p.Ser146del disruptive_inframe_deletion ABCA10 1 80742 1.23851E-5 40371 0 NA
17-67215780-A-T p.Ser146Thr missense ABCA10 1 80748 1.23842E-5 40374 0 NA
17-67215785-A-C p.Phe144Cys missense ABCA10 1 80748 1.23842E-5 40374 0 4.96672E-5
17-67215791-A-T p.Val142Asp missense ABCA10 1 80734 1.23864E-5 40367 0 8.27924E-6
17-67215802-A-G p.Phe138Phe synonymous ABCA10 1 80726 1.23876E-5 40363 0 4.00972E-6
17-67215805-A-G p.His137His synonymous ABCA10 8 80708 9.91228E-5 40354 0 6.25E-4
17-67215811-C-T p.Trp135* stop_gained ABCA10 2 80690 2.47862E-5 40345 0 4.01281E-6
17-67215821-A-G p.Met132Thr missense ABCA10 1 80660 1.23977E-5 40330 0 1.20069E-5
17-67215831-C-A p.Gly129* stop_gained ABCA10 1 80646 1.23999E-5 40323 0 NA
17-67215836-G-C p.Ser127Cys missense ABCA10 8 80600 9.92556E-5 40300 0 9.56023E-5
17-67215840-T-A p.Ile126Phe missense ABCA10 4 80566 4.96487E-5 40283 0 2.40258E-5
17-67215845-G-A p.Pro124Leu missense ABCA10 1 80512 1.24205E-5 40256 0 NA
17-67215847-T-TTA p.Pro124fs frameshift ABCA10 2 80488 2.48484E-5 40244 0 NA
17-67215848-G-C p.Pro123Arg missense ABCA10 2 80478 2.48515E-5 40239 0 NA
17-67215876-A-T p.Ser114Thr missense ABCA10 1 79804 1.25307E-5 39902 0 4.08817E-6
17-67215888-C-T p.Glu110Lys missense ABCA10 1 79458 1.25853E-5 39729 0 NA
17-67215899-T-A p.His106Leu missense ABCA10 1 78980 1.26614E-5 39490 0 NA
17-67215903-T-C p.Asn105Asp missense ABCA10 1 78854 1.26817E-5 39427 0 2.99573E-5
17-67215906-T-C p.Thr104Ala missense ABCA10 1 78740 1.27E-5 39370 0 NA
17-67215915-A-G c.304-3T>C splice_region ABCA10 3 78066 3.8429E-5 39033 0 NA
17-67217945-A-G p.Ala97Ala synonymous ABCA10 1 80878 1.23643E-5 40439 0 NA
17-67217956-C-A p.Ala94Ser missense ABCA10 2 80890 2.47249E-5 40445 0 NA
17-67217958-G-A p.Ala93Val missense ABCA10 1 80898 1.23612E-5 40449 0 NA
17-67217967-G-A p.Ala90Val missense ABCA10 2 80894 2.47237E-5 40447 0 1.19823E-5
17-67217983-G-C p.Leu85Val missense ABCA10 510 80884 0.00630533 40442 7 0.0123
17-67217990-C-T p.Lys82Lys synonymous ABCA10 7 80902 8.65244E-5 40451 0 5.99741E-5
17-67217999-G-C p.Tyr79* stop_gained ABCA10 7 80890 8.65373E-5 40445 0 1.91266E-4
17-67218003-C-CAA p.Cys78fs frameshift ABCA10 1 80886 1.23631E-5 40443 0 NA
17-67218011-T-C p.Glu75Glu synonymous ABCA10 1 80880 1.2364E-5 40440 0 NA
17-67218015-C-T p.Gly74Asp missense ABCA10 1 80876 1.23646E-5 40438 0 2.00086E-5
17-67218018-T-G p.His73Pro missense ABCA10 4 80864 4.94658E-5 40432 0 2.54777E-4
17-67218021-A-G p.Met72Thr missense ABCA10 2 80854 2.47359E-5 40427 0 NA
17-67218036-T-C p.Glu67Gly missense+splice_region ABCA10 21 80794 2.5992E-4 40397 0 2.52675E-4
17-67218670-T-A c.199+4A>T splice_region ABCA10 2 80040 2.49875E-5 40020 0 NA
17-67218672-A-G c.199+2T>C splice_donor ABCA10 7 80102 8.73886E-5 40051 0 5.42161E-4
17-67218685-G-A p.Ser63Phe missense ABCA10 4 80542 4.96635E-5 40271 0 2.55999E-5
17-67218710-T-C p.Arg55Gly missense ABCA10 2 80812 2.47488E-5 40406 0 4.3096E-6
17-67218726-C-G p.Lys49Asn missense ABCA10 2 80828 2.47439E-5 40414 0 NA
17-67218733-C-T p.Arg47His missense ABCA10 6 80846 7.42152E-5 40423 0 6.37796E-5
17-67218734-G-A p.Arg47Cys missense ABCA10 4 80846 4.94768E-5 40423 0 2.48123E-5
17-67218741-G-A p.Phe44Phe synonymous ABCA10 6 80860 7.42023E-5 40430 0 1.24331E-5
17-67218746-T-C p.Thr43Ala missense ABCA10 14 80864 1.7313E-4 40432 0 2.23029E-4
17-67218762-T-C p.Gly37Gly synonymous ABCA10 3 80860 3.71012E-5 40430 0 2.86807E-4
17-67218763-C-G p.Gly37Ala missense ABCA10 2 80862 2.47335E-5 40431 0 3.18674E-5
17-67218768-C-A p.Met35Ile missense ABCA10 1 80852 1.23683E-5 40426 0 8.39342E-6
17-67218768-C-T p.Met35Ile missense ABCA10 2 80852 2.47366E-5 40426 0 1.65142E-5
17-67218779-A-AT p.Tyr32fs frameshift ABCA10 1 80830 1.23716E-5 40415 0 8.47185E-6
17-67218799-T-C p.Asp25Gly missense ABCA10 3 80826 3.71168E-5 40413 0 3.88038E-5
17-67218799-T-A p.Asp25Val missense ABCA10 1 80826 1.23723E-5 40413 0 NA
17-67218816-T-C p.Pro19Pro synonymous ABCA10 1 80748 1.23842E-5 40374 0 NA
17-67218816-TG-T p.Pro19fs frameshift ABCA10 1 80748 1.23842E-5 40374 0 8.25396E-6
17-67218826-A-G p.Ile16Thr missense ABCA10 1 80692 1.23928E-5 40346 0 9.21574E-6
17-67218829-ACTGTT-A p.Arg13fs frameshift ABCA10 1 80642 1.24005E-5 40321 0 4.73669E-6
17-67218836-T-A p.Arg13* stop_gained ABCA10 1 80450 1.24301E-5 40225 0 4.92839E-6
17-67219768-C-T n.548+1G>A splice_donor ABCA10 1406 9404 0.149511 4702 129 0.186216
17-67221472-T-A p.Met10Leu missense ABCA10 1 80876 1.23646E-5 40438 0 6.37471E-5
17-67221473-A-AAGGCCAT p.Phe9fs frameshift ABCA10 6 80878 7.41858E-5 40439 0 8.2802E-6
17-67221487-C-T p.Ala5Thr missense ABCA10 2 80886 2.47262E-5 40443 0 NA
17-67221498-A-G p.Met1? start_lost ABCA10 5 80890 6.18123E-5 40445 0 6.37267E-5
17-67221531-T-C c.-32A>G 5_prime_UTR_premature_start_codon_gain ABCA10 1 80774 1.23802E-5 40387 0 4.00734E-6
17-67221538-C-G c.-39G>C 5_prime_UTR_premature_start_codon_gain ABCA10 1 80688 1.23934E-5 40344 0 NA
17-67221568-C-T c.-69G>A 5_prime_UTR_premature_start_codon_gain ABCA10 5 80246 6.23084E-5 40123 0 6.25E-4
17-67221604-G-A c.-105C>T 5_prime_UTR_premature_start_codon_gain ABCA10 1 79102 1.26419E-5 39551 0 3.18674E-5
17-67221624-G-A c.-125C>T 5_prime_UTR_premature_start_codon_gain ABCA10 4 76822 5.20684E-5 38411 0 NA
17-67221668-T-C c.-169A>G splice_region ABCA10 1 68304 1.46404E-5 34152 0 NA
17-67223284-A-G c.-172+2T>C splice_donor ABCA10 2 43910 4.55477E-5 21955 0 3.47295E-5
17-67223358-C-T c.-244G>A 5_prime_UTR_premature_start_codon_gain ABCA10 4 45062 8.87666E-5 22531 0 6.66089E-5
17-67223362-T-C c.-248A>G 5_prime_UTR_premature_start_codon_gain ABCA10 1 45066 2.21897E-5 22533 0 NA
17-67223429-A-G c.-312-3T>C splice_region ABCA10 5 44306 1.12852E-4 22153 0 3.25478E-5
17-67223430-G-C c.-312-4C>G splice_region ABCA10 1 44282 2.25825E-5 22141 0 NA