Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-66864195-G-A c.*31C>T splice_region ABCA8 1 81808 1.22237E-5 40904 0 2.05276E-5
17-66864233-T-C p.Glu1580Gly missense ABCA8 1 82696 1.20925E-5 41348 0 NA
17-66864238-C-G p.Gln1578His missense ABCA8 66 82828 7.96832E-4 41414 0 0.00133792
17-66864239-T-TG p.Gln1578fs frameshift ABCA8 1 82860 1.20685E-5 41430 0 8.73195E-6
17-66864240-G-A p.Gln1578* stop_gained ABCA8 29 82872 3.49937E-4 41436 0 7.00905E-4
17-66864245-A-G p.Leu1576Pro missense ABCA8 1 82924 1.20592E-5 41462 0 1.7328E-5
17-66864249-G-A p.Leu1575Phe missense ABCA8 1 82974 1.2052E-5 41487 0 NA
17-66864254-C-T p.Trp1573* stop_gained ABCA8 2 83028 2.40883E-5 41514 0 8.6146E-6
17-66864259-C-T p.Val1571Val synonymous ABCA8 76 83074 9.14847E-4 41537 1 0.00315259
17-66864265-G-C p.Pro1569Pro synonymous ABCA8 4 83104 4.81325E-5 41552 0 7.99623E-6
17-66864281-T-C p.Glu1564Gly missense ABCA8 1 83146 1.2027E-5 41573 0 NA
17-66864281-T-A p.Glu1564Val missense ABCA8 3 83146 3.60811E-5 41573 0 8.56971E-6
17-66864284-A-C p.Phe1563Cys missense ABCA8 1 83152 1.20262E-5 41576 0 NA
17-66864294-G-A p.Leu1560Leu synonymous ABCA8 2 83160 2.405E-5 41580 0 8.56194E-6
17-66864297-C-T p.Glu1559Lys missense ABCA8 1 83162 1.20247E-5 41581 0 NA
17-66864303-C-G p.Glu1557Gln missense ABCA8 5 83166 6.01207E-5 41583 0 4.00718E-6
17-66864317-A-G p.Leu1552Pro missense ABCA8 1 83156 1.20256E-5 41578 0 1.20395E-5
17-66864324-C-T p.Val1550Ile missense+splice_region ABCA8 67 83136 8.05908E-4 41568 3 0.005
17-66864327-G-A c.4648-3C>T splice_region ABCA8 1 83140 1.20279E-5 41570 0 NA
17-66864331-G-A c.4648-7C>T splice_region ABCA8 7 83126 8.42095E-5 41563 0 6.25E-4
17-66864435-G-A c.4647+7C>T splice_region ABCA8 1 83190 1.20207E-5 41595 0 NA
17-66864438-CCA-TCT c.4647+2_4647+4delTGGinsAGA splice_donor ABCA8 5 83186 6.01063E-5 41593 0 NA
17-66864438-C-T c.4647+4G>A splice_region ABCA8 1 83186 1.20213E-5 41593 0 1.59266E-4
17-66864440-A-T c.4647+2T>A splice_donor ABCA8 1 83176 1.20227E-5 41588 0 1.59246E-4
17-66864448-C-T p.Leu1547Leu synonymous ABCA8 2 83192 2.40408E-5 41596 0 NA
17-66864458-T-C p.Gln1544Arg missense ABCA8 1 83166 1.20241E-5 41583 0 8.25777E-6
17-66864480-G-A p.Leu1537Leu synonymous ABCA8 1 83138 1.20282E-5 41569 0 3.98194E-6
17-66864492-G-A p.Gln1533* stop_gained ABCA8 1 83124 1.20302E-5 41562 0 1.65303E-5
17-66864493-T-A p.Lys1532Asn missense ABCA8 1 83118 1.20311E-5 41559 0 NA
17-66864505-G-A c.4592-8C>T splice_region ABCA8 1 83066 1.20386E-5 41533 0 NA
17-66865861-GC-AA p.Ala1524Phe missense ABCA8 1 82872 1.20668E-5 41436 0 NA
17-66865866-G-T p.Ala1522Ala synonymous ABCA8 3 82886 3.61943E-5 41443 0 6.37064E-5
17-66865875-T-C p.Gln1519Gln synonymous ABCA8 1 82898 1.2063E-5 41449 0 2.473E-5
17-66865881-A-G p.Asp1517Asp synonymous ABCA8 3 82860 3.62056E-5 41430 0 2.47325E-5
17-66865890-T-C p.Pro1514Pro synonymous ABCA8 1 82864 1.2068E-5 41432 0 8.24593E-6
17-66865905-C-G p.Met1509Ile missense ABCA8 1 82820 1.20744E-5 41410 0 NA
17-66865912-G-A p.Ser1507Phe missense ABCA8 1 82710 1.20904E-5 41355 0 NA
17-66871393-A-C c.4511+8T>G splice_region ABCA8 2 82668 2.41932E-5 41334 0 NA
17-66871401-C-T p.Arg1504Lys missense+splice_region ABCA8 1 82806 1.20764E-5 41403 0 8.24022E-6
17-66871410-C-T p.Arg1501Gln missense ABCA8 3 82978 3.61542E-5 41489 0 9.0623E-5
17-66871411-G-A p.Arg1501Trp missense ABCA8 23 83020 2.77042E-4 41510 0 6.7007E-4
17-66871421-G-A p.Pro1497Pro synonymous ABCA8 4 83186 4.8085E-5 41593 0 NA
17-66871443-G-A p.Ala1490Val missense ABCA8 16 83310 1.92054E-4 41655 0 1.31798E-4
17-66871468-G-C p.Leu1482Val missense ABCA8 66 83380 7.91557E-4 41690 0 9.56145E-4
17-66871475-C-T p.Val1479Val synonymous ABCA8 9 83382 1.07937E-4 41691 1 4.37414E-5
17-66871478-C-T p.Lys1478Lys synonymous ABCA8 1 83386 1.19924E-5 41693 0 NA
17-66871481-C-T p.Met1477Ile missense ABCA8 2 83384 2.39854E-5 41692 0 3.97662E-6
17-66871484-C-G p.Glu1476Asp missense ABCA8 120 83376 0.00143926 41688 0 0.00315628
17-66871503-C-T p.Gly1470Asp missense ABCA8 1 83394 1.19913E-5 41697 0 NA
17-66871516-T-C p.Lys1466Glu missense ABCA8 2 83396 2.3982E-5 41698 0 3.97671E-6
17-66871524-T-G p.Gln1463Pro missense ABCA8 8 83392 9.59325E-5 41696 0 6.38692E-5
17-66871530-G-C p.Ser1461Cys missense ABCA8 5 83374 5.99707E-5 41687 0 7.95431E-5
17-66871534-C-G p.Gly1460Arg missense ABCA8 1 83374 1.19941E-5 41687 0 NA
17-66871535-G-A p.Ile1459Ile synonymous ABCA8 2 83372 2.39889E-5 41686 0 6.7624E-5
17-66871539-C-T p.Cys1458Tyr missense+splice_region ABCA8 1 83364 1.19956E-5 41682 0 NA
17-66871544-G-C c.4371-3C>G splice_region ABCA8 2 83360 2.39923E-5 41680 0 NA
17-66871544-G-A c.4371-3C>T splice_region ABCA8 4 83360 4.79846E-5 41680 0 6.25E-4
17-66871546-A-G c.4371-5T>C splice_region ABCA8 1 83364 1.19956E-5 41682 0 NA
17-66871755-C-T p.Arg1457Lys missense+splice_region ABCA8 11 83314 1.32031E-4 41657 0 4.96459E-5
17-66871759-A-G p.Leu1456Leu synonymous ABCA8 1 83324 1.20013E-5 41662 0 3.98457E-6
17-66871771-C-A p.Val1452Leu missense ABCA8 1 83328 1.20008E-5 41664 0 1.27462E-4
17-66871772-C-T p.Met1451Ile missense ABCA8 2 83332 2.40004E-5 41666 0 3.98172E-6
17-66871775-G-C p.Ile1450Met missense ABCA8 2 83332 2.40004E-5 41666 0 5.03525E-4
17-66871775-G-A p.Ile1450Ile synonymous ABCA8 2 83332 2.40004E-5 41666 0 6.76795E-5
17-66871777-T-A p.Ile1450Phe missense ABCA8 14 83332 1.68003E-4 41666 0 1.59317E-4
17-66871777-T-C p.Ile1450Val missense ABCA8 1 83332 1.20002E-5 41666 0 3.98086E-6
17-66871780-C-A p.Ala1449Ser missense ABCA8 3 83326 3.60032E-5 41663 0 6.37471E-5
17-66871785-C-T p.Arg1447Gln missense ABCA8 4 83332 4.80008E-5 41666 0 6.25E-4
17-66871786-G-A p.Arg1447* stop_gained ABCA8 4 83324 4.80054E-5 41662 0 2.55577E-4
17-66871791-C-T p.Cys1445Tyr missense ABCA8 27 83332 3.24005E-4 41666 0 2.90464E-4
17-66871792-A-C p.Cys1445Gly missense ABCA8 4 83334 4.79996E-5 41667 1 NA
17-66871795-C-T p.Val1444Met missense ABCA8 13 83336 1.55995E-4 41668 0 1.3928E-4
17-66871796-G-A p.Ala1443Ala synonymous ABCA8 4 83336 4.79985E-5 41668 0 3.29723E-5
17-66871814-G-A p.Tyr1437Tyr synonymous ABCA8 2 83356 2.39935E-5 41678 0 6.37146E-5
17-66871823-G-A p.Thr1434Thr synonymous ABCA8 1 83354 1.1997E-5 41677 0 NA
17-66871832-G-T p.Ala1431Ala synonymous ABCA8 1 83346 1.19982E-5 41673 0 NA
17-66871837-C-T p.Gly1430Ser missense ABCA8 2432 83312 0.0291915 41656 60 0.0475
17-66871844-C-T p.Thr1427Thr synonymous ABCA8 6 83358 7.19787E-5 41679 0 1.19399E-5
17-66871845-G-A p.Thr1427Met missense ABCA8 7 83356 8.39772E-5 41678 0 7.56279E-5
17-66871845-G-T p.Thr1427Lys missense ABCA8 1 83356 1.19967E-5 41678 0 3.98042E-6
17-66871854-A-C p.Phe1424Cys missense ABCA8 4 83362 4.79835E-5 41681 0 NA
17-66871860-G-A p.Ala1422Val missense ABCA8 1 83352 1.19973E-5 41676 0 3.98858E-6
17-66871863-C-T p.Arg1421Gln missense ABCA8 7 83352 8.39812E-5 41676 0 2.54842E-4
17-66871864-G-A p.Arg1421Trp missense ABCA8 12 83356 1.43961E-4 41678 0 5.35923E-4
17-66871868-G-A p.Ala1419Ala synonymous ABCA8 1 83342 1.19988E-5 41671 0 4.00583E-6
17-66871869-G-T p.Ala1419Asp missense ABCA8 1 83336 1.19996E-5 41668 0 5.03525E-4
17-66871873-G-T p.Gln1418Lys missense+splice_region ABCA8 1 83336 1.19996E-5 41668 0 4.02658E-6
17-66871881-T-C c.4251-7A>G splice_region ABCA8 1 83322 1.20016E-5 41661 0 1.24807E-5
17-66872593-T-C c.4250+8A>G splice_region ABCA8 2 81908 2.44176E-5 40954 0 3.18593E-5
17-66872602-A-T p.Trp1417Arg missense+splice_region ABCA8 1 81978 1.21984E-5 40989 0 NA
17-66872604-A-G p.Met1416Thr missense ABCA8 55 81998 6.70748E-4 40999 0 0.00168865
17-66872621-G-A p.Pro1410Pro synonymous ABCA8 3 82168 3.65106E-5 41084 0 5.76606E-5
17-66872622-G-T p.Pro1410His missense ABCA8 1 82192 1.21666E-5 41096 0 8.2371E-6
17-66872632-C-T p.Gly1407Arg missense ABCA8 3 82272 3.64644E-5 41136 0 3.18837E-5
17-66872633-G-A p.Thr1406Thr synonymous ABCA8 4 82276 4.86169E-5 41138 0 3.97731E-5
17-66872637-G-A p.Ser1405Leu missense ABCA8 2 82340 2.42895E-5 41170 0 5.32481E-4
17-66872639-C-T p.Pro1404Pro synonymous ABCA8 2 82406 2.42701E-5 41203 0 5.31915E-4
17-66872662-A-T p.Ser1397Thr missense ABCA8 12 82660 1.45173E-4 41330 0 0.0015873
17-66872663-C-T p.Pro1396Pro synonymous ABCA8 4 82656 4.83933E-5 41328 0 2.3861E-5
17-66872664-G-A p.Pro1396Leu missense ABCA8 11 82652 1.33088E-4 41326 0 0.00125
17-66872681-C-T p.Leu1390Leu synonymous ABCA8 1 82800 1.20773E-5 41400 0 NA
17-66872693-C-T p.Leu1386Leu splice_region+synonymous ABCA8 1 82890 1.20642E-5 41445 0 3.18471E-5
17-66872702-C-T c.4156-7G>A splice_region ABCA8 2 82942 2.41132E-5 41471 0 6.25E-4
17-66872764-C-T c.4155+5G>A splice_region ABCA8 6 83212 7.2105E-5 41606 0 8.2371E-6
17-66872765-G-C c.4155+4C>G splice_region ABCA8 2 83204 2.40373E-5 41602 0 5.1703E-5
17-66872765-G-A c.4155+4C>T splice_region ABCA8 1 83204 1.20187E-5 41602 0 9.55414E-5
17-66872769-C-T p.Lys1385Lys splice_region+synonymous ABCA8 1 83232 1.20146E-5 41616 0 NA
17-66872769-C-A p.Lys1385Asn missense+splice_region ABCA8 1 83232 1.20146E-5 41616 0 NA
17-66872785-T-C p.Glu1380Gly missense ABCA8 2 83248 2.40246E-5 41624 0 8.23655E-6
17-66872788-G-A p.Ser1379Leu missense ABCA8 6 83248 7.20738E-5 41624 0 9.06036E-5
17-66872789-A-T p.Ser1379Thr missense ABCA8 1 83248 1.20123E-5 41624 0 NA
17-66872791-A-G p.Leu1378Ser missense ABCA8 9 83250 1.08108E-4 41625 0 3.57964E-5
17-66872802-G-C p.Pro1374Pro synonymous ABCA8 63454 82556 0.768618 41278 24470 0.801925
17-66872807-A-C p.Ser1373Ala missense ABCA8 6 83248 7.20738E-5 41624 0 1.27372E-4
17-66872808-C-T p.Lys1372Lys synonymous ABCA8 16 83236 1.92225E-4 41618 0 8.75002E-5
17-66872829-GA-G p.Leu1365fs frameshift ABCA8 4 83196 4.80792E-5 41598 0 1.64756E-5
17-66872832-C-T p.Ala1364Ala synonymous ABCA8 1 83166 1.20241E-5 41583 0 0.00101215
17-66872834-C-G p.Ala1364Pro missense ABCA8 2 83172 2.40466E-5 41586 0 NA
17-66872845-C-G c.4080-1G>C splice_acceptor ABCA8 211 83102 0.00253905 41551 4 0.00558659
17-66872852-A-C c.4080-8T>G splice_region ABCA8 17 83018 2.04775E-4 41509 0 9.94898E-5
17-66873660-C-T p.Arg1360Gln missense+splice_region ABCA8 8 83270 9.6073E-5 41635 0 1.27119E-4
17-66873673-C-T p.Val1356Ile missense ABCA8 2 83314 2.40056E-5 41657 0 NA
17-66873686-T-C p.Lys1351Lys synonymous ABCA8 5 83352 5.99866E-5 41676 0 9.56328E-5
17-66873694-G-T p.Leu1349Met missense ABCA8 1 83352 1.19973E-5 41676 0 NA
17-66873703-C-T p.Val1346Met missense ABCA8 4 83358 4.79858E-5 41679 0 4.7773E-5
17-66873704-G-A p.Ala1345Ala synonymous ABCA8 2 83356 2.39935E-5 41678 0 3.18857E-5
17-66873706-C-T p.Ala1345Thr missense ABCA8 10 83350 1.19976E-4 41675 0 8.24334E-5
17-66873707-G-A p.Ala1344Ala synonymous ABCA8 2 83350 2.39952E-5 41675 0 6.37633E-5
17-66873707-G-T p.Ala1344Ala synonymous ABCA8 1 83350 1.19976E-5 41675 0 NA
17-66873709-C-T p.Ala1344Thr missense ABCA8 251 83326 0.00301227 41663 4 0.00752119
17-66873710-G-A p.Tyr1343Tyr synonymous ABCA8 1 83344 1.19985E-5 41672 0 3.18837E-5
17-66873718-C-G p.Glu1341Gln missense ABCA8 1 83350 1.19976E-5 41675 0 NA
17-66873727-G-C p.Gln1338Glu missense ABCA8 2 83356 2.39935E-5 41678 0 NA
17-66873743-G-A p.Pro1332Pro synonymous ABCA8 11040 83152 0.132769 41576 842 0.178751
17-66873752-C-A p.Ala1329Ala synonymous ABCA8 1 83342 1.19988E-5 41671 0 NA
17-66873753-G-A p.Ala1329Val missense ABCA8 2 83332 2.40004E-5 41666 0 5.03525E-4
17-66873754-C-T p.Ala1329Thr missense ABCA8 4 83336 4.79985E-5 41668 0 0.00375
17-66873755-G-A p.Asn1328Asn synonymous ABCA8 1 83346 1.19982E-5 41673 0 3.18443E-5
17-66873802-C-T p.Gly1313Ser missense ABCA8 6 83300 7.20288E-5 41650 0 9.55414E-5
17-66873803-G-A p.Ser1312Ser synonymous ABCA8 6 83282 7.20444E-5 41641 0 6.36943E-5
17-66873812-C-T p.Leu1309Leu synonymous ABCA8 1 83264 1.201E-5 41632 0 NA
17-66873820-C-T p.Val1307Met missense+splice_region ABCA8 6 83214 7.21032E-5 41607 0 1.62437E-5
17-66877253-T-C c.3918+8A>G splice_region ABCA8 5 83112 6.01598E-5 41556 0 8.26843E-6
17-66877268-G-A p.Ala1304Val missense ABCA8 1 83164 1.20244E-5 41582 0 NA
17-66877287-C-A p.Gly1298* stop_gained ABCA8 1 83194 1.20201E-5 41597 0 3.97855E-6
17-66877287-C-T p.Gly1298Arg missense ABCA8 1 83194 1.20201E-5 41597 0 1.64891E-5
17-66877324-A-G p.Asn1285Asn synonymous ABCA8 1 83188 1.2021E-5 41594 0 6.36821E-5
17-66877325-T-C p.Asn1285Ser missense ABCA8 5 83188 6.01048E-5 41594 0 0.00125
17-66877327-G-A p.His1284His synonymous ABCA8 3 83192 3.60612E-5 41596 0 8.24919E-6
17-66877343-A-G p.Leu1279Ser missense ABCA8 9 83162 1.08223E-4 41581 0 1.59307E-4
17-66877350-C-G p.Glu1277Gln missense+splice_region ABCA8 1 83108 1.20325E-5 41554 0 NA
17-66877352-C-T p.Gly1276Asp missense+splice_region ABCA8 1 83096 1.20343E-5 41548 0 NA
17-66877355-G-A c.3827-3C>T splice_region ABCA8 1 83066 1.20386E-5 41533 0 4.04361E-6
17-66877355-G-GA c.3827-4_3827-3insT splice_region ABCA8 2 83066 2.40772E-5 41533 0 NA
17-66878005-T-C p.Lys1275Lys splice_region+synonymous ABCA8 1 83330 1.20005E-5 41665 0 NA
17-66878017-G-C p.Phe1271Leu missense ABCA8 1 83344 1.19985E-5 41672 0 3.97757E-6
17-66878024-A-G p.Val1269Ala missense ABCA8 3 83350 3.59928E-5 41675 0 NA
17-66878032-C-T p.Thr1266Thr synonymous ABCA8 10 83344 1.19985E-4 41672 0 5.03525E-4
17-66878033-G-A p.Thr1266Met missense ABCA8 20 83352 2.39946E-4 41676 0 5.03525E-4
17-66878060-A-G p.Phe1257Ser missense ABCA8 3 83350 3.59928E-5 41675 0 8.23832E-6
17-66878066-C-G p.Gly1255Ala missense ABCA8 6 83344 7.19908E-5 41672 0 4.37445E-5
17-66878093-C-T p.Arg1246His missense ABCA8 2 83334 2.39998E-5 41667 0 3.1835E-5
17-66878094-G-A p.Arg1246Cys missense ABCA8 8 83334 9.59992E-5 41667 0 0.005
17-66878099-C-T p.Cys1244Tyr missense ABCA8 778 83302 0.00933951 41651 5 0.00952108
17-66878101-G-A p.Ser1243Ser synonymous ABCA8 1 83330 1.20005E-5 41665 0 NA
17-66878110-G-C p.Ile1240Met missense ABCA8 2 83328 2.40015E-5 41664 0 NA
17-66878112-T-C p.Ile1240Val missense ABCA8 6 83328 7.20046E-5 41664 0 1.39611E-4
17-66878125-T-A c.3709-4A>T splice_region ABCA8 3 83292 3.60179E-5 41646 0 NA
17-66878732-T-C c.3708+8A>G splice_region ABCA8 1 83112 1.2032E-5 41556 0 1.67093E-5
17-66878739-C-A c.3708+1G>T splice_donor ABCA8 1 83166 1.20241E-5 41583 0 3.18573E-5
17-66878742-C-A p.Glu1236* stop_gained ABCA8 1 83168 1.20239E-5 41584 0 NA
17-66878766-C-T p.Ala1228Thr missense ABCA8 1 83204 1.20187E-5 41602 0 3.98912E-6
17-66878774-G-A p.Thr1225Ile missense ABCA8 155 83206 0.00186285 41603 1 0.00136896
17-66878774-GT-G p.Thr1225fs frameshift ABCA8 3 83208 3.60542E-5 41604 0 3.98632E-6
17-66878788-C-G p.Met1220Ile missense ABCA8 1 83218 1.20166E-5 41609 0 NA
17-66878788-C-T p.Met1220Ile missense ABCA8 1 83218 1.20166E-5 41609 0 3.18573E-5
17-66878789-A-G p.Met1220Thr missense ABCA8 7 83218 8.41164E-5 41609 0 2.22958E-4
17-66878789-A-T p.Met1220Lys missense ABCA8 1 83218 1.20166E-5 41609 0 3.98384E-6
17-66878795-A-G p.Val1218Ala missense ABCA8 1 83220 1.20163E-5 41610 0 NA
17-66878798-T-C p.Asp1217Gly missense ABCA8 1 83220 1.20163E-5 41610 0 NA
17-66878802-C-A p.Glu1216* stop_gained ABCA8 3 83220 3.6049E-5 41610 0 NA
17-66878805-CCT-C p.Glu1214fs frameshift ABCA8 1 83218 1.20166E-5 41609 0 NA
17-66878817-G-A p.Pro1211Ser missense ABCA8 2 83190 2.40414E-5 41595 0 2.39208E-5
17-66878824-T-C p.Pro1208Pro synonymous ABCA8 4 83196 4.80792E-5 41598 0 1.64921E-5
17-66878826-GA-G p.Pro1208fs frameshift ABCA8 3 83196 3.60594E-5 41598 0 6.3743E-5
17-66878832-G-T p.Gln1206Lys missense ABCA8 4 83192 4.80815E-5 41596 0 8.24783E-6
17-66878833-A-ATGAGGT p.Cys1205delinsTerProHis stop_gained ABCA8 1 83186 1.20213E-5 41593 0 NA
17-66878838-C-T p.Val1204Met missense ABCA8 2 83182 2.40437E-5 41591 0 8.25082E-6
17-66878845-A-T p.Ser1201Arg missense ABCA8 1 83188 1.2021E-5 41594 0 NA
17-66878864-G-A c.3588-4C>T splice_region ABCA8 2 83160 2.405E-5 41580 0 4.07674E-6
17-66879925-T-C c.3587+7A>G splice_region ABCA8 1 82606 1.21057E-5 41303 0 3.18451E-5
17-66879927-C-T c.3587+5G>A splice_region ABCA8 2852 82470 0.0345823 41235 67 0.0404443
17-66879933-T-C p.Arg1196Gly missense+splice_region ABCA8 4 82734 4.83477E-5 41367 0 3.47929E-5
17-66879934-A-G p.Phe1195Phe splice_region+synonymous ABCA8 1 82732 1.20872E-5 41366 0 8.95704E-6
17-66879950-C-T p.Arg1190Lys missense ABCA8 1 82860 1.20685E-5 41430 0 6.37105E-5
17-66879954-T-C p.Met1189Val missense ABCA8 2 82844 2.41418E-5 41422 0 4.2676E-5
17-66879965-C-T p.Gly1185Glu missense ABCA8 259 82838 0.00312658 41419 4 0.0069803
17-66879965-C-A p.Gly1185Val missense ABCA8 1 82850 1.207E-5 41425 0 4.18732E-6
17-66879968-A-G p.Phe1184Ser missense ABCA8 2 82844 2.41418E-5 41422 0 3.18492E-5
17-66879975-A-G p.Trp1182Arg missense ABCA8 14 82820 1.69041E-4 41410 0 3.1839E-4
17-66879984-A-C p.Cys1179Gly missense ABCA8 2 82762 2.41657E-5 41381 0 8.62932E-6
17-66879984-A-T p.Cys1179Ser missense ABCA8 2 82762 2.41657E-5 41381 0 NA
17-66879986-C-T p.Arg1178Gln missense ABCA8 45 82702 5.44122E-4 41351 0 0.00104581
17-66879992-G-C p.Thr1176Ser missense ABCA8 3 82610 3.63152E-5 41305 0 6.28141E-4
17-66879992-G-A p.Thr1176Ile missense ABCA8 1 82610 1.21051E-5 41305 0 NA
17-66880018-G-T p.Phe1167Leu missense ABCA8 7 82048 8.53159E-5 41024 0 4.83388E-4
17-66880026-A-G c.3496-3T>C splice_region ABCA8 1 81748 1.22327E-5 40874 0 8.57568E-5
17-66880464-G-A c.3495+8C>T splice_region ABCA8 1 81904 1.22094E-5 40952 0 4.64179E-6
17-66880471-C-T c.3495+1G>A splice_donor ABCA8 1 82220 1.21625E-5 41110 0 NA
17-66880480-A-T p.Phe1163Ile missense ABCA8 1 82432 1.21312E-5 41216 0 NA
17-66880483-C-G p.Val1162Leu missense ABCA8 1 82396 1.21365E-5 41198 0 NA
17-66880485-A-G p.Leu1161Pro missense ABCA8 1 82458 1.21274E-5 41229 0 NA
17-66880488-A-T p.Phe1160Tyr missense ABCA8 1 82462 1.21268E-5 41231 0 NA
17-66880491-G-C p.Pro1159Arg missense ABCA8 1 82518 1.21186E-5 41259 0 8.79879E-6
17-66880500-T-C p.Asp1156Gly missense ABCA8 1 82488 1.2123E-5 41244 0 4.33193E-6
17-66880506-C-T p.Arg1154Gln missense ABCA8 2 82352 2.4286E-5 41176 0 5.22216E-5
17-66880514-A-C p.Ser1151Ser synonymous ABCA8 1 82360 1.21418E-5 41180 0 4.34851E-6
17-66880521-A-G p.Leu1149Pro missense ABCA8 1 82384 1.21383E-5 41192 0 8.95849E-6
17-66880537-G-A p.Leu1144Phe missense+splice_region ABCA8 7 82138 8.52224E-5 41069 0 NA
17-66881341-GAAGAT-G p.Leu1140fs frameshift ABCA8 1 83226 1.20155E-5 41613 0 4.00654E-6
17-66881369-T-A p.Thr1133Ser missense ABCA8 1 83252 1.20117E-5 41626 0 NA
17-66881372-C-CA p.Ala1132fs frameshift ABCA8 1 83250 1.2012E-5 41625 0 NA
17-66881378-G-T p.Pro1130Thr missense ABCA8 1 83244 1.20129E-5 41622 0 NA
17-66881380-A-G p.Ile1129Thr missense ABCA8 1 83234 1.20143E-5 41617 0 NA
17-66881387-A-T p.Phe1127Ile missense ABCA8 1 83238 1.20137E-5 41619 0 NA
17-66881389-G-A p.Thr1126Ile missense ABCA8 1 83208 1.20181E-5 41604 0 4.96393E-5
17-66881400-T-C p.Pro1122Pro synonymous ABCA8 1 83214 1.20172E-5 41607 0 NA
17-66881406-A-G p.Asp1120Asp synonymous ABCA8 9 83218 1.0815E-4 41609 0 3.18451E-5
17-66881414-C-T p.Glu1118Lys missense ABCA8 4 83206 4.80735E-5 41603 0 6.37349E-5
17-66881415-G-A p.Phe1117Phe synonymous ABCA8 2 83198 2.4039E-5 41599 0 3.59681E-5
17-66881420-T-C p.Ile1116Val missense ABCA8 1 83206 1.20184E-5 41603 0 3.99623E-6
17-66881421-A-G p.Ser1115Ser synonymous ABCA8 1 83198 1.20195E-5 41599 0 NA
17-66881427-C-T p.Ala1113Ala synonymous ABCA8 5 83186 6.01063E-5 41593 0 0.0020141
17-66881428-G-A p.Ala1113Val missense ABCA8 1 83184 1.20215E-5 41592 0 4.01329E-6
17-66881445-G-A p.Phe1107Phe synonymous ABCA8 4 83166 4.80966E-5 41583 0 2.17785E-4
17-66881456-C-T p.Val1104Ile missense+splice_region ABCA8 58 83114 6.97837E-4 41557 0 0.00251762
17-66883155-T-TA c.3309+2dupT splice_donor ABCA8 1 82848 1.20703E-5 41424 0 NA
17-66883164-G-T p.Phe1101Leu missense ABCA8 1 82958 1.20543E-5 41479 0 NA
17-66883170-A-C p.Phe1099Leu missense ABCA8 3 83002 3.61437E-5 41501 0 6.38891E-5
17-66883172-A-C p.Phe1099Val missense ABCA8 13 83012 1.56604E-4 41506 0 1.59205E-4
17-66883176-C-T p.Trp1097* stop_gained ABCA8 1 83028 1.20441E-5 41514 0 3.18735E-5
17-66883188-A-G p.Asn1093Asn synonymous ABCA8 2 83078 2.40738E-5 41539 0 6.25E-4
17-66883189-T-C p.Asn1093Ser missense ABCA8 2 83084 2.4072E-5 41542 0 8.36946E-6
17-66883204-C-T p.Arg1088His missense ABCA8 2 83092 2.40697E-5 41546 0 7.49825E-5
17-66883205-G-A p.Arg1088Cys missense ABCA8 1 83098 1.2034E-5 41549 0 3.18817E-5
17-66883223-C-T p.Val1082Met missense ABCA8 235 83120 0.00282724 41560 2 0.00541815
17-66883224-G-A p.Tyr1081Tyr synonymous ABCA8 3 83122 3.60915E-5 41561 0 3.18654E-5
17-66883241-G-A p.Leu1076Phe missense ABCA8 13 83100 1.56438E-4 41550 0 3.61478E-5
17-66883252-T-C p.Tyr1072Cys missense ABCA8 2 83070 2.40761E-5 41535 0 NA
17-66883265-A-C p.Cys1068Gly missense ABCA8 1 83026 1.20444E-5 41513 0 NA
17-66883266-T-TG p.Cys1068fs frameshift ABCA8 1 83026 1.20444E-5 41513 0 NA
17-66883483-A-G p.Ile1063Ile synonymous ABCA8 1 83106 1.20328E-5 41553 0 NA
17-66883497-T-C p.Thr1059Ala missense ABCA8 2 83142 2.40552E-5 41571 0 3.1841E-5
17-66883499-A-G p.Leu1058Pro missense ABCA8 1 83158 1.20253E-5 41579 0 NA
17-66883506-T-C p.Met1056Val missense ABCA8 1 83162 1.20247E-5 41581 0 6.36943E-5
17-66883506-T-A p.Met1056Leu missense ABCA8 1 83162 1.20247E-5 41581 0 NA
17-66883507-G-A p.Asp1055Asp synonymous ABCA8 4 83160 4.81E-5 41580 0 2.64896E-4
17-66883513-G-A p.Phe1053Phe synonymous ABCA8 2 83172 2.40466E-5 41586 0 8.27801E-5
17-66883516-G-T p.Asn1052Lys missense ABCA8 1 83170 1.20236E-5 41585 0 NA
17-66883523-A-G p.Ile1050Thr missense ABCA8 3 83176 3.60681E-5 41588 0 2.54696E-4
17-66883526-T-C p.Tyr1049Cys missense ABCA8 1 83172 1.20233E-5 41586 0 3.98982E-6
17-66883548-C-T p.Val1042Ile missense ABCA8 18 83150 2.16476E-4 41575 0 4.78164E-4
17-66883548-C-G p.Val1042Leu missense ABCA8 1 83150 1.20265E-5 41575 0 NA
17-66883573-A-G p.Asp1033Asp synonymous ABCA8 1 83074 1.20375E-5 41537 0 NA
17-66883578-C-T p.Val1032Met missense ABCA8 1 83048 1.20412E-5 41524 0 NA
17-66883582-C-T p.Ala1030Ala synonymous ABCA8 3 83024 3.61341E-5 41512 0 6.37024E-5
17-66883583-G-A p.Ala1030Val missense ABCA8 3 83020 3.61359E-5 41510 0 3.18552E-5
17-66883594-C-A p.Trp1026Cys missense ABCA8 5 83006 6.02366E-5 41503 0 5.03525E-4
17-66883617-C-T p.Gly1019Arg missense ABCA8 2 83004 2.40952E-5 41502 0 1.65467E-5
17-66883617-C-A p.Gly1019* stop_gained ABCA8 1 83004 1.20476E-5 41502 0 NA
17-66883622-A-G p.Ile1017Thr missense ABCA8 1 83016 1.20459E-5 41508 0 3.18471E-5
17-66883625-C-T p.Arg1016Gln missense ABCA8 2 82992 2.40987E-5 41496 0 6.37308E-5
17-66883630-C-A p.Gln1014His missense ABCA8 1 82990 1.20496E-5 41495 0 NA
17-66883631-T-A p.Gln1014Leu missense ABCA8 1 82994 1.20491E-5 41497 0 NA
17-66883637-C-T p.Arg1012Gln missense ABCA8 4 82996 4.81951E-5 41498 0 2.83357E-5
17-66883638-G-A p.Arg1012Trp missense ABCA8 1 82988 1.20499E-5 41494 0 9.11713E-5
17-66883645-G-A p.Asn1009Asn splice_region+synonymous ABCA8 3 82972 3.61568E-5 41486 0 7.4664E-5
17-66887623-T-C c.3024+7A>G splice_region ABCA8 1 82868 1.20674E-5 41434 0 NA
17-66887629-C-T c.3024+1G>A splice_donor ABCA8 1 82958 1.20543E-5 41479 0 NA
17-66887641-C-T p.Asp1005Asn missense ABCA8 3 83060 3.61185E-5 41530 0 7.9961E-6
17-66887648-G-A p.Ser1002Ser synonymous ABCA8 20 83086 2.40714E-4 41543 0 1.83074E-4
17-66887658-A-C p.Ile999Ser missense ABCA8 1 83122 1.20305E-5 41561 0 NA
17-66887658-A-G p.Ile999Thr missense ABCA8 2 83122 2.4061E-5 41561 0 1.27586E-4
17-66887675-C-T p.Ser993Ser synonymous ABCA8 1781 83116 0.0214279 41558 35 0.066875
17-66887676-G-A p.Ser993Leu missense ABCA8 1 83184 1.20215E-5 41592 0 1.65868E-5
17-66887678-T-C p.Thr992Thr synonymous ABCA8 1 83176 1.20227E-5 41588 0 7.97156E-6
17-66887687-C-T p.Leu989Leu synonymous ABCA8 1 83190 1.20207E-5 41595 0 1.59455E-5
17-66887702-A-T p.Tyr984* stop_gained ABCA8 1 83180 1.20221E-5 41590 0 NA
17-66887706-GC-G p.Ala983fs frameshift ABCA8 3 83176 3.60681E-5 41588 0 NA
17-66887714-T-C p.Gly980Gly synonymous ABCA8 1 83158 1.20253E-5 41579 0 2.52755E-5
17-66887716-C-T p.Gly980Arg missense ABCA8 2 83146 2.40541E-5 41573 0 5.04032E-4
17-66887717-G-A p.Ile979Ile synonymous ABCA8 54 83142 6.49491E-4 41571 1 0.00130607
17-66887719-T-C p.Ile979Val missense ABCA8 1 83142 1.20276E-5 41571 0 9.55292E-5
17-66887728-C-T p.Asp976Asn missense ABCA8 7 83106 8.42298E-5 41553 0 7.76116E-5
17-66887729-C-T p.Gln975Gln synonymous ABCA8 6 83100 7.22022E-5 41550 0 6.36943E-5
17-66887739-T-C c.2917-2A>G splice_acceptor ABCA8 3 83046 3.61246E-5 41523 0 8.84267E-6
17-66890186-A-G p.???702??? splice_region+synonymous ABCA8 1 77954 1.28281E-5 38977 0 6.55721E-6
17-66890196-A-C p.Phe699Val missense ABCA8 2 79394 2.51908E-5 39697 0 NA
17-66890201-A-AAT p.Leu697fs frameshift ABCA8 1 80020 1.24969E-5 40010 0 6.3743E-5
17-66890216-G-A p.Pro692Leu missense ABCA8 1 81296 1.23007E-5 40648 0 3.52286E-5
17-66890217-G-T p.Pro692Thr missense ABCA8 6 81348 7.37572E-5 40674 0 1.36874E-4
17-66890222-C-T p.Ser690Asn missense ABCA8 15 81584 1.8386E-4 40792 0 9.82922E-4
17-66890230-A-G p.Phe687Phe synonymous ABCA8 86 81952 0.00104939 40976 2 0.00187735
17-66890233-C-A p.Leu686Phe missense ABCA8 1 82054 1.21871E-5 41027 0 4.45141E-6
17-66890252-A-G p.Leu680Pro missense ABCA8 1 82592 1.21077E-5 41296 0 1.33941E-5
17-66890264-G-A p.Ser676Phe missense ABCA8 1 82740 1.20861E-5 41370 0 NA
17-66890268-T-C p.Ile675Val missense ABCA8 1 82770 1.20817E-5 41385 0 4.11955E-5
17-66890270-C-T p.Gly674Glu missense ABCA8 2 82780 2.41604E-5 41390 0 NA
17-66890274-A-G p.Ser673Pro missense ABCA8 1 82822 1.20741E-5 41411 0 NA
17-66890300-T-C p.Asn664Ser missense ABCA8 2 82960 2.4108E-5 41480 0 8.63588E-6
17-66890304-A-G p.Tyr663His missense ABCA8 8 82962 9.64297E-5 41481 0 1.02773E-4
17-66890307-T-C p.Ile662Val missense ABCA8 8 82966 9.6425E-5 41483 0 6.26566E-4
17-66890308-A-G c.2916+6T>C splice_region ABCA8 1 82970 1.20525E-5 41485 0 NA
17-66890330-C-A p.Arg967Ile missense ABCA8 1 83008 1.2047E-5 41504 0 7.96724E-6
17-66890337-T-A p.Thr965Ser missense ABCA8 1 83018 1.20456E-5 41509 0 NA
17-66890339-C-T p.Arg964Gln missense ABCA8 121 83024 0.00145741 41512 1 0.0040282
17-66890340-G-A p.Arg964* stop_gained ABCA8 1 83028 1.20441E-5 41514 0 1.66066E-5
17-66890353-T-C p.Pro959Pro synonymous ABCA8 9 83046 1.08374E-4 41523 0 5.17759E-5
17-66890367-C-T p.Gly955Arg missense ABCA8 1 83038 1.20427E-5 41519 0 3.18776E-5
17-66890369-A-C p.Leu954Arg missense ABCA8 1 83038 1.20427E-5 41519 0 NA
17-66890377-A-T p.Asn951Lys missense ABCA8 3 83034 3.61298E-5 41517 0 1.7931E-4
17-66890384-A-G p.Val949Ala missense ABCA8 1 83024 1.20447E-5 41512 0 1.66014E-5
17-66890387-A-G p.Ile948Thr missense ABCA8 3 83000 3.61446E-5 41500 0 1.19566E-5
17-66890393-A-G p.Met946Thr missense ABCA8 1 82980 1.20511E-5 41490 0 8.31725E-6
17-66890397-G-A p.Leu945Phe missense ABCA8 1 82964 1.20534E-5 41482 0 NA
17-66890414-A-G p.Leu939Ser missense ABCA8 1 82840 1.20715E-5 41420 0 3.99984E-6
17-66890415-A-G p.Leu939Leu synonymous ABCA8 2 82834 2.41447E-5 41417 0 6.25E-4
17-66890426-T-C p.Asn935Ser missense ABCA8 2 82708 2.41815E-5 41354 0 8.473E-6
17-66890437-C-T p.Ser931Ser synonymous ABCA8 1 82506 1.21203E-5 41253 0 9.55901E-5
17-66890438-G-A p.Ser931Leu missense ABCA8 14 82474 1.6975E-4 41237 0 5.03525E-4
17-66890443-G-A p.Ser929Ser synonymous ABCA8 1 82358 1.21421E-5 41179 0 NA
17-66890444-C-T p.Ser929Asn missense ABCA8 10 82338 1.21451E-4 41169 0 1.32783E-4
17-66890453-TA-T c.2779-3delT splice_region ABCA8 1 82112 1.21785E-5 41056 0 2.89354E-5
17-66890457-A-G c.2779-6T>C splice_region ABCA8 1 82002 1.21948E-5 41001 0 4.14965E-6
17-66891014-T-C c.2778+7A>G splice_region ABCA8 1 83038 1.20427E-5 41519 0 NA
17-66891016-C-T c.2778+5G>A splice_region ABCA8 1 83044 1.20418E-5 41522 0 8.05237E-6
17-66891030-A-G p.Cys923Cys synonymous ABCA8 8 83050 9.63275E-5 41525 0 6.62438E-5
17-66891039-T-C p.Thr920Thr synonymous ABCA8 1 83058 1.20398E-5 41529 0 8.26132E-6
17-66891040-G-C p.Thr920Arg missense ABCA8 6 83054 7.22422E-5 41527 0 8.26009E-6
17-66891078-T-A p.Arg907Ser missense ABCA8 1 83088 1.20354E-5 41544 0 NA
17-66891115-T-C p.Gln895Arg missense ABCA8 1 83078 1.20369E-5 41539 0 NA
17-66891116-G-A p.Gln895* stop_gained ABCA8 1 83070 1.2038E-5 41535 0 7.97257E-6
17-66891117-G-A p.His894His synonymous ABCA8 3 83070 3.61141E-5 41535 0 1.27429E-4
17-66891131-G-C p.Gln890Glu missense ABCA8 78 83030 9.39419E-4 41515 2 0.00375
17-66891131-G-A p.Gln890* stop_gained ABCA8 1 83032 1.20435E-5 41516 0 NA
17-66891132-T-C p.Ile889Met missense ABCA8 1 83030 1.20438E-5 41515 0 4.02885E-6
17-66891143-C-G p.Asp886His missense ABCA8 7 82956 8.43821E-5 41478 0 9.55597E-5
17-66891143-C-T p.Asp886Asn missense ABCA8 8 82956 9.64367E-5 41478 0 2.4574E-5
17-66891145-A-G p.Ile885Thr missense ABCA8 2 82952 2.41103E-5 41476 0 0.00125
17-66891150-T-C p.Ala883Ala synonymous ABCA8 1 82922 1.20595E-5 41461 0 NA
17-66898846-C-T c.2644+8G>A splice_region ABCA8 5 83266 6.00485E-5 41633 1 8.32681E-6
17-66898849-T-C c.2644+5A>G splice_region ABCA8 41 83270 4.92374E-4 41635 0 3.90874E-4
17-66898862-T-C p.Asn879Ser missense ABCA8 1 83324 1.20013E-5 41662 0 3.1839E-5
17-66898890-C-A p.Asp870Tyr missense ABCA8 1 83338 1.19993E-5 41669 0 NA
17-66898909-A-G p.Ala863Ala synonymous ABCA8 2 83348 2.39958E-5 41674 0 1.27364E-4
17-66898919-T-C p.Tyr860Cys missense ABCA8 1 83350 1.19976E-5 41675 0 5.03525E-4
17-66898929-G-A p.Pro857Ser missense ABCA8 1 83344 1.19985E-5 41672 0 NA
17-66898941-AGG-A p.Thr852fs frameshift ABCA8 3 83348 3.59937E-5 41674 0 NA
17-66898943-G-GAAA p.Thr852delinsIleSer conservative_inframe_insertion ABCA8 3 83346 3.59945E-5 41673 0 NA
17-66898945-G-A p.Tyr851Tyr synonymous ABCA8 3 83348 3.59937E-5 41674 0 NA
17-66898970-A-G p.Met843Thr missense ABCA8 1 83322 1.20016E-5 41661 0 NA
17-66898975-A-G p.Tyr841Tyr synonymous ABCA8 4 83322 4.80065E-5 41661 0 3.18512E-5
17-66898976-T-G p.Tyr841Ser missense ABCA8 2 83322 2.40033E-5 41661 0 8.26337E-6
17-66898983-C-T p.Val839Met missense ABCA8 1 83316 1.20025E-5 41658 0 4.13825E-5
17-66898987-A-G p.Leu837Leu synonymous ABCA8 1 83312 1.20031E-5 41656 0 4.00227E-6
17-66898989-G-GCAGGAAT p.Leu837fs frameshift ABCA8 1 83314 1.20028E-5 41657 0 NA
17-66898989-G-GCAGGAATAGGT p.Leu837fs frameshift ABCA8 1 83314 1.20028E-5 41657 0 NA
17-66898990-A-C p.Pro836Pro synonymous ABCA8 1 83312 1.20031E-5 41656 0 NA
17-66899004-C-G p.Ala832Pro missense ABCA8 1 83278 1.2008E-5 41639 0 NA
17-66899006-A-G p.Met831Thr missense ABCA8 3 83288 3.60196E-5 41644 0 4.02379E-6
17-66899010-GAATT-G p.Leu828fs frameshift ABCA8 1 83282 1.20074E-5 41641 0 NA
17-66899017-T-C p.Leu827Leu synonymous ABCA8 12 83270 1.4411E-4 41635 0 6.36862E-5
17-66899019-G-T p.Leu827Ile missense+splice_region ABCA8 2 83258 2.40217E-5 41629 0 1.62342E-5
17-66899020-C-A p.Leu826Leu splice_region+synonymous ABCA8 1 83234 1.20143E-5 41617 0 4.06825E-6
17-66899434-ATACT-A c.2477+4_2477+7delAGTA splice_region ABCA8 1 83338 1.19993E-5 41669 0 8.24348E-6
17-66899436-A-G c.2477+6T>C splice_region ABCA8 134 83342 0.00160783 41671 0 0.00436222
17-66899436-A-C c.2477+6T>G splice_region ABCA8 1 83346 1.19982E-5 41673 0 NA
17-66899446-C-G p.Ala825Pro missense ABCA8 1 83346 1.19982E-5 41673 0 3.97833E-6
17-66899464-C-G p.Glu819Gln missense ABCA8 1 83374 1.19941E-5 41687 0 3.97716E-6
17-66899467-GCTTTAA-G p.Leu816_Lys817del conservative_inframe_deletion ABCA8 4 83378 4.79743E-5 41689 0 3.29489E-5
17-66899471-T-G p.Leu816Phe missense ABCA8 43 83376 5.15736E-4 41688 0 0.00151057
17-66899479-A-G p.Leu814Leu synonymous ABCA8 1 83372 1.19944E-5 41686 0 1.64745E-5
17-66899480-C-G p.Leu813Phe missense ABCA8 6 83372 7.19666E-5 41686 0 5.56744E-5
17-66899485-G-T p.Arg812Ser missense ABCA8 1 83372 1.19944E-5 41686 0 NA
17-66899487-A-G p.Val811Ala missense ABCA8 1 83376 1.19939E-5 41688 0 8.23723E-6
17-66899489-C-A p.Arg810Ser missense ABCA8 1 83374 1.19941E-5 41687 0 NA
17-66899494-C-A p.Ala809Ser missense ABCA8 2 83368 2.399E-5 41684 0 0.00100705
17-66899494-C-G p.Ala809Pro missense ABCA8 1 83368 1.1995E-5 41684 0 NA
17-66899497-T-C p.Ile808Val missense ABCA8 1 83372 1.19944E-5 41686 0 NA
17-66899501-G-A p.Cys806Cys synonymous ABCA8 20 83374 2.39883E-4 41687 0 4.77209E-5
17-66899515-G-A p.Arg802* stop_gained ABCA8 9 83372 1.0795E-4 41686 0 1.91071E-4
17-66899519-G-A p.Leu800Leu synonymous ABCA8 14 83386 1.67894E-4 41693 0 8.23682E-5
17-66899526-A-AC p.Val798fs frameshift ABCA8 1 83378 1.19936E-5 41689 0 6.36821E-5
17-66899528-A-T p.Gly797Gly synonymous ABCA8 1 83378 1.19936E-5 41689 0 6.36862E-5
17-66899535-A-G p.Ile795Thr missense ABCA8 2 83378 2.39871E-5 41689 0 3.18492E-5
17-66899552-G-T p.Asn789Lys missense ABCA8 4 83376 4.79754E-5 41688 0 8.35149E-5
17-66899554-TAAGTG-T p.Ser787fs frameshift ABCA8 1 83372 1.19944E-5 41686 0 9.06066E-5
17-66899558-T-C p.Ser787Ser synonymous ABCA8 1 83368 1.1995E-5 41684 0 1.64747E-5
17-66899572-G-A p.Gln783* stop_gained ABCA8 3 83358 3.59893E-5 41679 0 8.23723E-6
17-66899572-G-T p.Gln783Lys missense ABCA8 1 83358 1.19964E-5 41679 0 8.23723E-6
17-66899588-C-A p.Arg777Ser missense ABCA8 17 83356 2.03945E-4 41678 0 6.60134E-4
17-66899588-C-G p.Arg777Ser missense ABCA8 1 83354 1.1997E-5 41677 0 5.16973E-5
17-66899590-T-C p.Arg777Gly missense ABCA8 1 83360 1.19962E-5 41680 0 3.977E-6
17-66899599-C-T p.Asp774Asn missense ABCA8 6 83348 7.19873E-5 41674 0 1.23285E-4
17-66899600-G-A p.Asp773Asp synonymous ABCA8 3 83348 3.59937E-5 41674 0 9.0626E-5
17-66899612-C-T p.Ala769Ala synonymous ABCA8 5 83338 5.99966E-5 41669 0 8.2394E-6
17-66899613-G-A p.Ala769Val missense ABCA8 101 83324 0.00121214 41662 0 0.020625
17-66899644-C-A c.2279-4G>T splice_region ABCA8 1 83218 1.20166E-5 41609 0 3.98121E-6
17-66902186-C-T p.Ser759Ser splice_region+synonymous ABCA8 3 82528 3.63513E-5 41264 0 5.04032E-4
17-66902199-G-A p.Thr755Ile missense ABCA8 2 82646 2.41996E-5 41323 0 3.18735E-5
17-66902204-T-G p.Lys753Asn missense ABCA8 21 82724 2.53856E-4 41362 0 1.37208E-4
17-66902220-A-G p.Leu748Pro missense ABCA8 3 82786 3.6238E-5 41393 0 NA
17-66902222-GAAT-G p.Phe747del disruptive_inframe_deletion ABCA8 2 82792 2.41569E-5 41396 0 1.65574E-5
17-66902228-T-G p.Glu745Asp missense ABCA8 3 82814 3.62258E-5 41407 0 6.37024E-5
17-66902235-A-C p.Leu743Trp missense ABCA8 1 82824 1.20738E-5 41412 0 NA
17-66902242-T-TCA p.Thr741fs frameshift ABCA8 48 82814 5.79612E-4 41407 0 7.96229E-4
17-66902247-GA-G p.Ser739fs frameshift ABCA8 1 82802 1.2077E-5 41401 0 NA
17-66902252-AC-A p.Gly737fs frameshift ABCA8 1 82824 1.20738E-5 41412 0 NA
17-66902255-A-G p.Tyr736Tyr synonymous ABCA8 265 82834 0.00319917 41417 4 0.00678344
17-66902259-T-C p.Asn735Ser missense ABCA8 1 82838 1.20718E-5 41419 0 NA
17-66902263-C-A p.Glu734* stop_gained ABCA8 2 82796 2.41558E-5 41398 0 8.17655E-6
17-66902268-C-T p.Gly732Glu missense ABCA8 1 82750 1.20846E-5 41375 0 NA
17-66902281-A-C p.Tyr728Asp missense ABCA8 2 82484 2.42471E-5 41242 0 NA
17-66902281-A-G p.Tyr728His missense ABCA8 3 82484 3.63707E-5 41242 0 4.21088E-6
17-66902290-G-A p.Leu725Phe missense ABCA8 2 82178 2.43374E-5 41089 0 2.52139E-5
17-66902302-G-T p.Leu721Ile missense+splice_region ABCA8 182 81838 0.00222391 40919 0 0.00197528
17-66902306-T-C c.2159-2A>G splice_acceptor ABCA8 2 81734 2.44696E-5 40867 0 4.62976E-6
17-66903878-T-C c.2158+3A>G splice_region ABCA8 1 82788 1.2079E-5 41394 0 4.47279E-6
17-66903899-T-C p.Arg714Gly missense ABCA8 2 82760 2.41663E-5 41380 0 7.59806E-5
17-66903921-A-G p.Leu706Leu synonymous ABCA8 1 82962 1.20537E-5 41481 0 NA
17-66903921-A-C p.Leu706Leu synonymous ABCA8 3 82962 3.61611E-5 41481 0 NA
17-66903922-A-T p.Leu706His missense ABCA8 2 82958 2.41086E-5 41479 0 3.18857E-5
17-66903932-C-T p.Glu703Lys missense ABCA8 16 82980 1.92818E-4 41490 0 2.87632E-4
17-66903933-G-A p.Ser702Ser synonymous ABCA8 6 82952 7.2331E-5 41476 0 0.00151362
17-66903934-C-G p.Ser702Thr missense ABCA8 3 82966 3.61594E-5 41483 0 2.67075E-5
17-66903938-TG-T p.Ser702fs frameshift ABCA8 10 82980 1.20511E-4 41490 0 1.76414E-5
17-66903939-G-C p.Ala700Ala synonymous ABCA8 3 82968 3.61585E-5 41484 0 NA
17-66903944-A-G p.Ser699Pro missense ABCA8 2 82958 2.41086E-5 41479 0 1.21174E-5
17-66903948-T-C p.Lys697Lys synonymous ABCA8 2 82958 2.41086E-5 41479 0 NA
17-66903957-A-C p.Pro694Pro synonymous ABCA8 83 82952 0.00100058 41476 0 0.00216947
17-66903974-C-G p.Val689Leu missense ABCA8 2 82886 2.41295E-5 41443 0 NA
17-66903976-A-G p.Leu688Pro missense ABCA8 26 82870 3.13744E-4 41435 1 5.04541E-4
17-66903993-C-T p.Glu682Glu synonymous ABCA8 1 82690 1.20934E-5 41345 0 NA
17-66903995-C-T p.Glu682Lys missense ABCA8 1 82654 1.20986E-5 41327 0 8.69633E-6
17-66903998-C-T p.Val681Ile missense ABCA8 66 82598 7.99051E-4 41299 3 0.00289283
17-66904001-A-C p.Cys680Gly missense ABCA8 241 82560 0.00291909 41280 15 0.0106792
17-66904025-C-A c.2019-5G>T splice_region ABCA8 1 81548 1.22627E-5 40774 0 3.93732E-5
17-66913501-C-T c.2018+1G>A splice_donor ABCA8 1 82528 1.21171E-5 41264 0 NA
17-66913508-T-C p.His671Arg missense ABCA8 2 82566 2.4223E-5 41283 0 NA
17-66913511-T-C p.Tyr670Cys missense ABCA8 3 82586 3.63258E-5 41293 0 NA
17-66913519-C-A p.Gly667Gly synonymous ABCA8 1 82670 1.20963E-5 41335 0 NA
17-66913519-C-G p.Gly667Gly synonymous ABCA8 1 82670 1.20963E-5 41335 0 NA
17-66913521-C-G p.Gly667Arg missense ABCA8 1 82682 1.20945E-5 41341 0 NA
17-66913552-C-G p.Ala656Ala synonymous ABCA8 1 82882 1.20653E-5 41441 0 1.19768E-5
17-66913553-G-A p.Ala656Val missense ABCA8 3 82860 3.62056E-5 41430 0 2.39645E-5
17-66913554-C-T p.Ala656Thr missense ABCA8 2 82862 2.41365E-5 41431 0 1.99617E-5
17-66913555-G-A p.Cys655Cys synonymous ABCA8 3 82864 3.62039E-5 41432 0 1.32181E-4
17-66913561-T-C p.Leu653Leu synonymous ABCA8 61 82874 7.36057E-4 41437 0 0.00130598
17-66913573-G-A p.Ser649Ser synonymous ABCA8 1 82824 1.20738E-5 41412 0 NA
17-66913596-A-G c.1928-4T>C splice_region ABCA8 2 82518 2.42371E-5 41259 0 NA
17-66913598-AAAG-A c.1928-9_1928-7delCTT splice_region ABCA8 8 82504 9.6965E-5 41252 0 9.55718E-5
17-66913600-A-C c.1928-8T>G splice_region ABCA8 2 82484 2.42471E-5 41242 0 NA
17-66914183-A-G c.1927+5T>C splice_region ABCA8 1 83238 1.20137E-5 41619 0 NA
17-66914190-G-T p.Ala642Glu missense+splice_region ABCA8 2 83256 2.40223E-5 41628 0 NA
17-66914191-C-A p.Ala642Ser missense ABCA8 66 83256 7.92736E-4 41628 0 0.00243881
17-66914206-C-T p.Glu637Lys missense ABCA8 1 83300 1.20048E-5 41650 0 NA
17-66914213-G-C p.Phe634Leu missense ABCA8 3 83304 3.60127E-5 41652 0 NA
17-66914220-G-C p.Thr632Ser missense ABCA8 160 83316 0.0019204 41658 1 0.00515726
17-66914220-G-A p.Thr632Ile missense ABCA8 1 83316 1.20025E-5 41658 0 3.1835E-5
17-66914236-C-A p.Val627Leu missense ABCA8 1 83330 1.20005E-5 41665 0 NA
17-66914237-G-A p.Arg626Arg synonymous ABCA8 1 83332 1.20002E-5 41666 0 3.29527E-5
17-66914238-C-CG p.Arg626fs frameshift ABCA8 3 83332 3.60006E-5 41666 0 8.23818E-6
17-66914239-G-A p.Arg626Cys missense ABCA8 3 83332 3.60006E-5 41666 0 3.18431E-5
17-66914240-G-T p.Asp625Glu missense ABCA8 2 83328 2.40015E-5 41664 0 NA
17-66914250-C-T p.Arg622His missense ABCA8 3 83332 3.60006E-5 41666 0 1.64758E-5
17-66914250-C-G p.Arg622Pro missense ABCA8 2 83332 2.40004E-5 41666 0 5.96526E-5
17-66914251-G-A p.Arg622Cys missense ABCA8 6 83346 7.19891E-5 41673 0 1.07375E-4
17-66914251-G-C p.Arg622Gly missense ABCA8 1 83346 1.19982E-5 41673 0 1.19305E-5
17-66914260-G-A p.Leu619Leu synonymous ABCA8 1 83348 1.19979E-5 41674 0 NA
17-66914263-G-T p.Leu618Ile missense ABCA8 1 83334 1.19999E-5 41667 0 NA
17-66914264-G-A p.Asn617Asn synonymous ABCA8 2 83336 2.39992E-5 41668 0 2.47137E-5
17-66914268-C-T p.Trp616* stop_gained ABCA8 1 83322 1.20016E-5 41661 0 1.64758E-5
17-66914269-A-G p.Trp616Arg missense ABCA8 2 83322 2.40033E-5 41661 0 1.59082E-5
17-66914272-C-T p.Val615Ile missense ABCA8 1 83316 1.20025E-5 41658 0 NA
17-66914289-G-C p.Pro609Arg missense ABCA8 79 83302 9.48357E-4 41651 0 7.99222E-4
17-66914294-C-T p.Leu607Leu synonymous ABCA8 1 83300 1.20048E-5 41650 0 NA
17-66914297-T-C p.Gly606Gly synonymous ABCA8 1 83294 1.20057E-5 41647 0 4.12004E-5
17-66914307-G-A p.Pro603Leu missense ABCA8 1 83296 1.20054E-5 41648 0 1.19339E-5
17-66914319-A-G p.Leu599Pro missense ABCA8 1 83294 1.20057E-5 41647 0 8.24552E-6
17-66914329-A-G c.1789-3T>C splice_region ABCA8 1 83276 1.20083E-5 41638 0 8.25573E-6
17-66914334-C-G c.1789-8G>C splice_region ABCA8 1 83272 1.20088E-5 41636 0 NA
17-66914564-T-A c.1908+4A>T splice_region ABCA8 1 78940 1.26678E-5 39470 0 1.03898E-5
17-66914567-C-T c.1908+1G>A splice_donor ABCA8 1 78922 1.26707E-5 39461 0 NA
17-66914572-G-C p.Pro635Arg missense ABCA8 2 78942 2.53351E-5 39471 0 NA
17-66914590-A-G p.Ile629Thr missense ABCA8 1 78896 1.26749E-5 39448 0 5.11797E-6
17-66914599-G-T p.Thr626Asn missense ABCA8 4 78834 5.07395E-5 39417 0 1.04318E-5
17-66914636-C-G p.Ala614Pro missense ABCA8 40 78318 5.10738E-4 39159 0 8.22166E-5
17-66914668-T-G p.Glu603Ala missense ABCA8 3 77434 3.87427E-5 38717 0 8.86211E-5
17-66914678-C-A p.Val600Phe missense ABCA8 4 77218 5.18014E-5 38609 0 1.08696E-4
17-66914684-G-A p.Gln598* stop_gained ABCA8 1 77090 1.29719E-5 38545 0 1.01233E-5
17-66914685-T-A p.Ile597Ile splice_region+synonymous ABCA8 1 77068 1.29756E-5 38534 0 NA
17-66914688-C-G c.1789-1G>C splice_acceptor ABCA8 1 77038 1.29806E-5 38519 0 NA
17-66915434-T-A c.1788+8A>T splice_region ABCA8 1 82708 1.20907E-5 41354 0 NA
17-66915438-G-C c.1788+4C>G splice_region ABCA8 2 82710 2.41809E-5 41355 0 8.3138E-6
17-66915442-CT-C p.Glu596fs frameshift ABCA8 3 82750 3.62538E-5 41375 0 NA
17-66915451-C-T p.Val593Val synonymous ABCA8 1 82924 1.20592E-5 41462 0 8.26269E-6
17-66915457-T-C p.Gln591Gln synonymous ABCA8 1 82976 1.20517E-5 41488 0 NA
17-66915469-C-G p.Gly587Gly synonymous ABCA8 1 83004 1.20476E-5 41502 0 NA
17-66915474-T-C p.Lys586Glu missense ABCA8 13 83026 1.56577E-4 41513 0 2.31312E-4
17-66915480-T-C p.Lys584Glu missense ABCA8 1 83016 1.20459E-5 41508 0 NA
17-66915481-AG-A p.Ala583fs frameshift ABCA8 1 83020 1.20453E-5 41510 0 3.98537E-6
17-66915483-CAA-C p.Phe582fs frameshift ABCA8 2 83010 2.40935E-5 41505 0 6.37267E-5
17-66915484-A-G p.Phe582Phe synonymous ABCA8 2 83020 2.40906E-5 41510 0 3.18431E-5
17-66915538-T-G p.Pro564Pro synonymous ABCA8 1 83050 1.20409E-5 41525 0 3.18512E-5
17-66915549-C-T p.Gly561Arg missense ABCA8 9 83064 1.0835E-4 41532 0 0.00100705
17-66915550-G-A p.Thr560Thr synonymous ABCA8 3 83068 3.6115E-5 41534 0 6.37105E-5
17-66915556-C-T p.Lys558Lys synonymous ABCA8 1 83082 1.20363E-5 41541 0 NA
17-66915565-A-AT p.Asn555fs frameshift ABCA8 1 83108 1.20325E-5 41554 0 NA
17-66915594-T-G p.Lys546Gln missense ABCA8 3 83064 3.61167E-5 41532 0 9.55231E-5
17-66915595-A-G p.Asn545Asn synonymous ABCA8 2 83054 2.40807E-5 41527 0 6.25E-4
17-66915598-G-A p.Asn544Asn synonymous ABCA8 2 83046 2.4083E-5 41523 0 8.27267E-5
17-66915598-G-T p.Asn544Lys missense ABCA8 5 83046 6.02076E-5 41523 0 3.98479E-6
17-66915602-T-C p.Tyr543Cys missense ABCA8 1 83040 1.20424E-5 41520 0 NA
17-66915604-G-A p.Ile542Ile synonymous ABCA8 336 83016 0.00404741 41508 0 0.00347112
17-66915618-C-A c.1613-1G>T splice_acceptor ABCA8 16 82956 1.92873E-4 41478 0 9.55292E-5
17-66915623-A-G c.1613-6T>C splice_region ABCA8 2 82904 2.41243E-5 41452 0 NA
17-66915625-A-G c.1613-8T>C splice_region ABCA8 2 82874 2.4133E-5 41437 0 1.65918E-4
17-66917523-C-T p.Gly538Ser missense+splice_region ABCA8 2 82534 2.42324E-5 41267 0 NA
17-66917526-T-C p.Lys537Glu missense ABCA8 1 82618 1.21039E-5 41309 0 4.03447E-6
17-66917538-A-G p.Ser533Pro missense ABCA8 3 82832 3.62179E-5 41416 0 1.65076E-5
17-66917552-A-G p.Ile528Thr missense ABCA8 1 82984 1.20505E-5 41492 0 1.59308E-5
17-66917553-T-C p.Ile528Val missense ABCA8 1 82990 1.20496E-5 41495 0 1.99135E-5
17-66917554-GT-G p.Asn527fs frameshift ABCA8 1 83046 1.20415E-5 41523 0 NA
17-66917567-G-T p.Ser523* stop_gained ABCA8 2 83060 2.4079E-5 41530 0 NA
17-66917576-G-A p.Ala520Val missense ABCA8 2 83090 2.40703E-5 41545 0 NA
17-66917579-C-G p.Gly519Ala missense ABCA8 1 83084 1.2036E-5 41542 0 8.24239E-6
17-66917582-C-T p.Ser518Asn missense ABCA8 5 83066 6.01931E-5 41533 0 8.24226E-6
17-66917592-G-C p.Leu515Val missense ABCA8 1 83020 1.20453E-5 41510 0 3.18674E-5
17-66917593-T-C p.Ile514Met missense ABCA8 2 83014 2.40923E-5 41507 0 1.59201E-5
17-66917614-G-A p.Tyr507Tyr synonymous ABCA8 3 82544 3.63443E-5 41272 0 1.64987E-5
17-66917636-A-G c.1502-3T>C splice_region ABCA8 1 82204 1.21649E-5 41102 0 NA
17-66918354-TTTTTTTTTTTTTTTTTTTTTTTTTTTA-T c.1501+2_1501+28delTAAAAAAAAAAAAAAAAAAAAAAAAAA splice_donor ABCA8 1 48832 2.04784E-5 24416 0 NA
17-66918380-TAC-T c.1501+1_1501+2delGT splice_donor ABCA8 4 70102 5.70597E-5 35051 0 0.0018126
17-66918380-TACC-T p.Asp501fs frameshift ABCA8 77 69374 0.00110993 34687 0 0.0105007
17-66918380-T-A c.1501+3A>T splice_region ABCA8 10 70244 1.42361E-4 35122 0 2.43072E-4
17-66918381-A-T c.1501+2T>A splice_donor ABCA8 8 67304 1.18864E-4 33652 0 0.0153456
17-66918381-ACC-A p.Asp501fs frameshift ABCA8 1 68064 1.46921E-5 34032 0 NA
17-66918381-ACC-TTT p.Asp501Asn splice_donor ABCA8 6 68052 8.81679E-5 34026 0 NA
17-66918382-C-T c.1501+1G>A splice_donor ABCA8 13 68132 1.90806E-4 34066 0 0.0189609
17-66918382-CC-TT p.Asp501Asn splice_donor ABCA8 1 68896 1.45146E-5 34448 0 NA
17-66918382-CC-AA p.Asp501Tyr splice_donor ABCA8 1 68902 1.45134E-5 34451 0 NA
17-66918382-C-A c.1501+1G>T splice_donor ABCA8 2 68900 2.90276E-5 34450 0 NA
17-66918383-C-T p.Asp501Asn missense+splice_region ABCA8 15 68606 2.1864E-4 34303 0 0.0206229
17-66918386-TCAAGGC-T p.Ala498_Leu499del conservative_inframe_deletion ABCA8 34 71154 4.77837E-4 35577 0 0.00801079
17-66918386-TCAAGGCTTCTA-T p.Ile496fs frameshift ABCA8 2 71884 2.78226E-5 35942 0 1.58629E-4
17-66918389-A-G p.Leu499Leu synonymous ABCA8 4 73046 5.476E-5 36523 0 5.43833E-4
17-66918391-G-C p.Ala498Gly missense ABCA8 18 73220 2.45834E-4 36610 0 7.38552E-4
17-66918391-G-T p.Ala498Asp missense ABCA8 1 73222 1.36571E-5 36611 0 NA
17-66918392-C-CTTTT p.Ala498fs frameshift ABCA8 2 73516 2.7205E-5 36758 0 0.00202327
17-66918392-C-A p.Ala498Ser missense ABCA8 1 73540 1.3598E-5 36770 0 NA
17-66918393-T-C p.Glu497Glu synonymous ABCA8 1 74136 1.34887E-5 37068 0 6.32831E-6
17-66918394-TCTA-T p.Ile496_Glu497delinsLys disruptive_inframe_deletion ABCA8 14 74004 1.89179E-4 37002 0 0.00256739
17-66918394-TC-T p.Glu497fs frameshift ABCA8 2 74222 2.69462E-5 37111 0 7.48823E-4
17-66918395-C-T p.Glu497Lys missense ABCA8 2 74100 2.69906E-5 37050 0 0.00415129
17-66918395-CTA-TTT p.IleGlu496LysLys missense ABCA8 5 74134 6.74454E-5 37067 0 NA
17-66918396-TA-T p.Ile496fs frameshift ABCA8 2 74590 2.68132E-5 37295 0 5.65691E-4
17-66918396-T-C p.Ile496Met missense ABCA8 2 74630 2.67989E-5 37315 0 3.53557E-5
17-66918397-A-T p.Ile496Lys missense ABCA8 3 74122 4.04738E-5 37061 0 0.00423979
17-66918398-T-C p.Ile496Val missense ABCA8 1 75048 1.33248E-5 37524 0 NA
17-66918401-T-C p.Lys495Glu missense ABCA8 16 75438 2.12095E-4 37719 0 1.31886E-4
17-66918401-TATCAGGC-T p.Pro493fs frameshift ABCA8 3 75420 3.97772E-5 37710 0 3.11872E-4
17-66918402-A-T p.Asp494Glu missense ABCA8 3 75080 3.99574E-5 37540 0 0.00130776
17-66918407-G-A p.Pro493Ser missense ABCA8 2 76234 2.6235E-5 38117 0 1.26559E-4
17-66918411-TCC-T p.Gly491fs frameshift ABCA8 1 76968 1.29924E-5 38484 0 1.71668E-4
17-66918415-TTATATTC-T p.Glu488fs frameshift ABCA8 1 77638 1.28803E-5 38819 0 1.70207E-4
17-66918432-A-G p.Asn484Asn synonymous ABCA8 1 79310 1.26088E-5 39655 0 8.44994E-6
17-66918439-A-T p.Ile482Asn missense+splice_region ABCA8 1 79366 1.25999E-5 39683 0 NA
17-66918444-G-GA c.1443-4_1443-3insT splice_region ABCA8 1 79550 1.25707E-5 39775 0 8.42488E-6
17-66920845-A-G p.Ile480Thr missense ABCA8 1 83220 1.20163E-5 41610 0 NA
17-66920846-T-A p.Ile480Phe missense ABCA8 4 83228 4.80607E-5 41614 0 8.35185E-6
17-66920847-G-A p.Ala479Ala synonymous ABCA8 1 83222 1.20161E-5 41611 0 NA
17-66920848-G-T p.Ala479Asp missense ABCA8 2 83228 2.40304E-5 41614 0 6.3743E-5
17-66920856-C-T p.Gly476Gly synonymous ABCA8 2 83226 2.4031E-5 41613 0 1.59688E-5
17-66920857-C-T p.Gly476Glu missense ABCA8 4 83224 4.80631E-5 41612 0 6.37796E-5
17-66920864-A-C p.Phe474Val missense ABCA8 1 83224 1.20158E-5 41612 0 6.37186E-5
17-66920874-C-T p.Ala470Ala synonymous ABCA8 10 83224 1.20158E-4 41612 0 3.05528E-4
17-66920875-G-A p.Ala470Val missense ABCA8 1 83218 1.20166E-5 41609 0 9.55657E-5
17-66920876-C-T p.Ala470Thr missense ABCA8 2 83218 2.40333E-5 41609 0 NA
17-66920893-T-C p.His464Arg missense ABCA8 1 83212 1.20175E-5 41606 0 0.00100806
17-66920903-G-A p.Pro461Ser missense ABCA8 1 83206 1.20184E-5 41603 0 3.1841E-5
17-66920906-C-T p.Asp460Asn missense ABCA8 7 83204 8.41306E-5 41602 0 4.94495E-5
17-66920907-G-A p.Ala459Ala synonymous ABCA8 6 83202 7.21137E-5 41601 0 3.18431E-5
17-66920934-G-A p.His450His synonymous ABCA8 1 83242 1.20132E-5 41621 0 3.97896E-6
17-66920937-A-C p.Asp449Glu missense ABCA8 1 83248 1.20123E-5 41624 0 NA
17-66920943-C-T p.Lys447Lys synonymous ABCA8 2 83246 2.40252E-5 41623 0 5.03525E-4
17-66920953-T-G p.Gln444Pro missense ABCA8 3 83248 3.60369E-5 41624 0 1.64823E-5
17-66920956-G-A p.Ser443Phe missense ABCA8 1 83236 1.2014E-5 41618 0 NA
17-66920962-A-G p.Phe441Ser missense ABCA8 1 83236 1.2014E-5 41618 0 4.12092E-5
17-66920971-T-C p.Lys438Arg missense ABCA8 1 83222 1.20161E-5 41611 0 NA
17-66920993-G-A p.Arg431Cys missense ABCA8 36 83144 4.32984E-4 41572 0 7.00414E-4
17-66920995-C-T p.Arg430Gln missense ABCA8 1 83132 1.20291E-5 41566 0 3.30945E-5
17-66920996-G-A p.Arg430* stop_gained ABCA8 2 83120 2.40616E-5 41560 0 1.19627E-5
17-66920998-T-C p.His429Arg missense ABCA8 4 83114 4.81267E-5 41557 0 7.97086E-6
17-66921015-A-G c.1274-5T>C splice_region ABCA8 1 82988 1.20499E-5 41494 0 NA
17-66924074-A-G p.Phe419Ser missense ABCA8 303 83112 0.00364568 41556 2 0.00809278
17-66924083-G-A p.Ala416Val missense ABCA8 5076 82974 0.0611758 41487 194 0.089375
17-66924089-G-A p.Ala414Val missense ABCA8 1 83182 1.20218E-5 41591 0 NA
17-66924090-C-A p.Ala414Ser missense ABCA8 7 83186 8.41488E-5 41593 0 6.37308E-5
17-66924106-G-C p.Asp408Glu missense ABCA8 1 83246 1.20126E-5 41623 0 NA
17-66924120-T-C p.Met404Val missense ABCA8 1 83252 1.20117E-5 41626 0 NA
17-66924126-T-C p.Asn402Asp missense ABCA8 1 83268 1.20094E-5 41634 0 8.39053E-6
17-66924134-A-G p.Val399Ala missense ABCA8 1 83268 1.20094E-5 41634 0 NA
17-66924148-GC-G p.Gly394fs frameshift ABCA8 3 83238 3.60412E-5 41619 0 4.15076E-5
17-66924150-C-T p.Gly394Ser missense ABCA8 3 83240 3.60404E-5 41620 0 6.639E-5
17-66924151-G-A p.Asp393Asp synonymous ABCA8 8 83244 9.6103E-5 41622 0 3.50341E-4
17-66924154-C-T p.Ser392Ser synonymous ABCA8 2 83246 2.40252E-5 41623 0 2.54956E-4
17-66924155-G-A p.Ser392Leu missense ABCA8 5 83238 6.00687E-5 41619 0 6.37024E-5
17-66924183-A-C p.Leu383Val missense ABCA8 1 83220 1.20163E-5 41610 0 NA
17-66924189-A-G p.Tyr381His missense ABCA8 1 83188 1.2021E-5 41594 0 3.1841E-5
17-66924190-G-T p.Asp380Glu missense ABCA8 1 83180 1.20221E-5 41590 0 NA
17-66924191-TC-T p.Asp380fs frameshift ABCA8 1 83178 1.20224E-5 41589 0 NA
17-66925182-C-A c.1125+8G>T splice_region ABCA8 1 79662 1.2553E-5 39831 0 NA
17-66925183-A-G c.1125+7T>C splice_region ABCA8 31 79806 3.88442E-4 39903 0 8.27973E-4
17-66925196-C-T p.Met373Ile missense ABCA8 1 81716 1.22375E-5 40858 0 1.71209E-5
17-66925197-A-C p.Met373Arg missense ABCA8 1 81748 1.22327E-5 40874 0 3.18431E-5
17-66925197-A-T p.Met373Lys missense ABCA8 1 81748 1.22327E-5 40874 0 8.54438E-6
17-66925206-A-G p.Met370Thr missense ABCA8 2 81926 2.44123E-5 40963 0 4.28009E-6
17-66925210-A-C p.Phe369Val missense ABCA8 1 81976 1.21987E-5 40988 0 NA
17-66925212-G-A p.Ala368Val missense ABCA8 2 82128 2.43522E-5 41064 0 NA
17-66925220-A-T p.Ser365Arg missense ABCA8 1 82578 1.21098E-5 41289 0 NA
17-66925223-A-G p.Leu364Leu synonymous ABCA8 9 82612 1.08943E-4 41306 0 1.87461E-4
17-66925226-C-T p.Leu363Leu synonymous ABCA8 2 82596 2.42142E-5 41298 0 NA
17-66925227-A-C p.Leu363Trp missense ABCA8 1 82624 1.2103E-5 41312 0 6.25E-4
17-66925239-C-T p.Trp359* stop_gained ABCA8 2 82710 2.41809E-5 41355 0 1.65527E-5
17-66925253-A-T p.Pro354Pro synonymous ABCA8 1 82848 1.20703E-5 41424 0 NA
17-66925274-T-G p.Thr347Thr synonymous ABCA8 2 83072 2.40755E-5 41536 0 1.65134E-5
17-66925288-A-AC p.Cys343fs frameshift ABCA8 1 83058 1.20398E-5 41529 0 NA
17-66925289-C-T p.Gly342Gly synonymous ABCA8 10 83066 1.20386E-4 41533 0 1.03735E-4
17-66925302-G-A p.Thr338Ile missense ABCA8 1 83078 1.20369E-5 41539 0 NA
17-66925311-A-G p.Phe335Ser missense ABCA8 1 83086 1.20357E-5 41543 0 1.65423E-5
17-66925315-C-T p.Val334Met missense ABCA8 4 83060 4.8158E-5 41530 0 3.18431E-4
17-66925316-G-A p.Val333Val synonymous ABCA8 1 83068 1.20383E-5 41534 0 4.971E-5
17-66925316-G-C p.Val333Val synonymous ABCA8 1 83068 1.20383E-5 41534 0 3.18512E-5
17-66925324-C-T p.Gly331Ser missense ABCA8 21 83016 2.52963E-4 41508 0 0.00100705
17-66925325-G-A p.Thr330Thr synonymous ABCA8 4 82980 4.82044E-5 41490 0 3.18573E-5
17-66925326-G-A p.Thr330Ile missense ABCA8 1 83002 1.20479E-5 41501 0 4.01313E-6
17-66925333-A-C p.Phe328Val missense ABCA8 1 82952 1.20552E-5 41476 0 NA
17-66925340-C-A p.Lys325Asn missense ABCA8 4 82868 4.82695E-5 41434 0 9.55536E-5
17-66925355-C-A p.Met320Ile missense ABCA8 6 82788 7.24743E-5 41394 0 3.7442E-5
17-66925370-A-G p.Ala315Ala synonymous ABCA8 4 82556 4.8452E-5 41278 0 3.1835E-5
17-66925374-A-G p.Val314Ala missense+splice_region ABCA8 1 82440 1.213E-5 41220 0 NA
17-66925377-T-C c.940-2A>G splice_acceptor ABCA8 1 82380 1.21389E-5 41190 0 NA
17-66925701-C-T c.939+1G>A splice_donor ABCA8 2 83186 2.40425E-5 41593 0 8.29394E-6
17-66925701-C-A c.939+1G>T splice_donor ABCA8 2 83186 2.40425E-5 41593 0 NA
17-66925703-A-G p.Leu313Ser missense+splice_region ABCA8 4 83200 4.80769E-5 41600 0 1.91131E-4
17-66925704-A-C p.Leu313Val missense+splice_region ABCA8 2 83202 2.40379E-5 41601 0 4.18892E-4
17-66925723-A-G p.Phe306Phe synonymous ABCA8 13 83220 1.56212E-4 41610 0 2.22887E-4
17-66925729-G-A p.Ser304Ser synonymous ABCA8 4 83232 4.80584E-5 41616 0 2.47521E-5
17-66925732-G-A p.Phe303Phe synonymous ABCA8 1 83238 1.20137E-5 41619 0 NA
17-66925743-TGAA-T p.Phe299del conservative_inframe_deletion ABCA8 1 83232 1.20146E-5 41616 0 NA
17-66925743-T-C p.Met300Val missense ABCA8 1 83232 1.20146E-5 41616 0 8.24946E-6
17-66925765-C-CAGGTACAAT p.Gln292_Phe293insLeuTyrLeu disruptive_inframe_insertion ABCA8 1 83246 1.20126E-5 41623 0 NA
17-66925784-A-T p.Leu286His missense ABCA8 1 83232 1.20146E-5 41616 0 8.25587E-6
17-66925786-T-C p.Ala285Ala synonymous ABCA8 1 83230 1.20149E-5 41615 0 3.98013E-6
17-66925792-G-C p.Phe283Leu missense ABCA8 2 83236 2.40281E-5 41618 0 NA
17-66925803-T-C p.Met280Val missense ABCA8 7 83208 8.41265E-5 41604 0 6.25E-4
17-66925808-A-G p.Phe278Ser missense ABCA8 2 83210 2.40356E-5 41605 0 1.59311E-5
17-66925812-T-C p.Ile277Val missense ABCA8 5 83202 6.00947E-5 41601 0 3.31076E-5
17-66925823-T-C p.Tyr273Cys missense ABCA8 1 83192 1.20204E-5 41596 0 6.25E-4
17-66925824-A-C p.Tyr273Asp missense ABCA8 9 83174 1.08207E-4 41587 0 3.18451E-5
17-66925833-C-T p.Gly270Ser missense ABCA8 3 83158 3.60759E-5 41579 0 NA
17-66925840-G-C p.Leu267Leu synonymous ABCA8 32 83124 3.84967E-4 41562 0 8.285E-4
17-66928428-C-G c.797+1G>C splice_donor ABCA8 87 83166 0.0010461 41583 0 5.27304E-4
17-66928434-C-T p.Ala264Ala synonymous ABCA8 1928 83090 0.0232038 41545 58 0.055
17-66928435-G-A p.Ala264Val missense ABCA8 1 83180 1.20221E-5 41590 0 3.49742E-5
17-66928438-G-A p.Ser263Leu missense ABCA8 3 83212 3.60525E-5 41606 0 2.59323E-5
17-66928440-A-C p.Asp262Glu missense ABCA8 1 83226 1.20155E-5 41613 0 NA
17-66928442-C-T p.Asp262Asn missense ABCA8 1 83226 1.20155E-5 41613 0 NA
17-66928445-G-A p.Arg261Trp missense ABCA8 2 83220 2.40327E-5 41610 0 5.954E-5
17-66928448-G-T p.Leu260Ile missense ABCA8 4 83220 4.80654E-5 41610 0 5.06705E-5
17-66928457-T-C p.Met257Val missense ABCA8 2 83224 2.40315E-5 41612 0 5.03525E-4
17-66928460-T-C p.Thr256Ala missense ABCA8 2669 83120 0.0321102 41560 189 0.0645738
17-66928462-A-G p.Met255Thr missense ABCA8 2 83226 2.4031E-5 41613 0 8.3275E-6
17-66928468-GCC-CCT p.LysAla252LysGly missense ABCA8 2135 83158 0.025674 41579 99 NA
17-66928468-G-C p.Ala253Gly missense ABCA8 540 83180 0.00649195 41590 93 0.0645388
17-66928470-C-T p.Lys252Lys synonymous ABCA8 535 83176 0.00643214 41588 90 0.064582
17-66928473-C-T p.Met251Ile missense ABCA8 421 83208 0.00505961 41604 2 0.0156093
17-66928476-C-T p.Arg250Arg synonymous ABCA8 1 83226 1.20155E-5 41613 0 NA
17-66928477-C-A p.Arg250Met missense ABCA8 2 83224 2.40315E-5 41612 0 3.97966E-6
17-66928478-T-C p.Arg250Gly missense ABCA8 2 83224 2.40315E-5 41612 0 3.50475E-4
17-66928489-CTT-C p.Arg248fs frameshift ABCA8 2 83188 2.40419E-5 41594 0 3.30355E-5
17-66928515-A-C p.Ile237Met missense ABCA8 1 83152 1.20262E-5 41576 0 1.19367E-5
17-66928515-A-G p.Ile237Ile synonymous ABCA8 1 83152 1.20262E-5 41576 0 3.9789E-6
17-66928530-T-A p.Ser232Ser synonymous ABCA8 1 83118 1.20311E-5 41559 0 NA
17-66928531-GA-G p.Ser232fs frameshift ABCA8 5 83124 6.01511E-5 41562 0 NA
17-66928538-T-C p.Ile230Val missense ABCA8 49 83104 5.89623E-4 41552 1 8.95599E-4
17-66928538-T-G p.Ile230Leu missense ABCA8 3 83106 3.60985E-5 41553 0 6.39713E-5
17-66928540-C-A p.Cys229Phe missense ABCA8 1 83098 1.2034E-5 41549 0 8.23886E-6
17-66928542-GGA-AGT p.Ser228Thr missense ABCA8 4 83104 4.81325E-5 41552 0 NA
17-66928545-A-G p.Phe227Phe synonymous ABCA8 2516 83068 0.0302884 41534 199 0.0597615
17-66928546-A-G p.Phe227Ser missense ABCA8 1 83094 1.20346E-5 41547 0 NA
17-66928561-G-A p.Thr222Ile missense ABCA8 1 83052 1.20406E-5 41526 0 NA
17-66928563-T-C p.Ile221Met missense ABCA8 1 83058 1.20398E-5 41529 0 8.23873E-6
17-66928572-T-G p.Ser218Ser synonymous ABCA8 1 83042 1.20421E-5 41521 0 NA
17-66928573-G-A p.Ser218Leu missense ABCA8 2 83042 2.40842E-5 41521 0 1.64777E-5
17-66928575-T-C p.Gln217Gln synonymous ABCA8 1 83044 1.20418E-5 41522 0 5.03525E-4
17-66928582-A-G p.Ile215Thr missense ABCA8 1 83046 1.20415E-5 41523 0 8.23873E-6
17-66928585-A-G p.Phe214Ser missense ABCA8 1 83034 1.20433E-5 41517 0 1.59286E-4
17-66928589-A-G p.Ser213Pro missense ABCA8 2 83014 2.40923E-5 41507 0 7.95887E-6
17-66928593-C-T p.Met211Ile missense ABCA8 1 83002 1.20479E-5 41501 0 NA
17-66928596-C-G p.Lys210Asn missense ABCA8 1 82988 1.20499E-5 41494 0 0.00100705
17-66928606-T-C p.Lys207Arg missense ABCA8 2 82932 2.41161E-5 41466 0 6.36862E-5
17-66928608-TCC-T p.Gly206fs frameshift ABCA8 1 82916 1.20604E-5 41458 0 NA
17-66928609-C-G p.Gly206Ala missense ABCA8 1 82906 1.20619E-5 41453 0 3.98048E-6
17-66928610-C-CGAAATGG p.Gly206fs frameshift ABCA8 1 82916 1.20604E-5 41458 0 NA
17-66928619-A-C p.Ser203Ala missense ABCA8 1 82860 1.20685E-5 41430 0 NA
17-66928629-C-T p.Glu199Glu synonymous ABCA8 3 82776 3.62424E-5 41388 0 3.98302E-6
17-66928632-CATCACTGAGTG-C p.His195fs frameshift ABCA8 1 82760 1.20831E-5 41380 0 NA
17-66928652-T-TG p.Thr192fs frameshift ABCA8 5 82572 6.05532E-5 41286 0 9.55292E-5
17-66928652-T-C p.Thr192Ala missense ABCA8 1 82574 1.21103E-5 41287 0 NA
17-66928657-T-C c.571-2A>G splice_acceptor ABCA8 1 82530 1.21168E-5 41265 0 NA
17-66928662-A-G c.571-7T>C splice_region ABCA8 3 82414 3.64016E-5 41207 0 2.12646E-4
17-66929301-G-T c.570+8C>A splice_region ABCA8 3 82590 3.6324E-5 41295 0 3.18735E-5
17-66929304-C-G c.570+5G>C splice_region ABCA8 1 82650 1.20992E-5 41325 0 NA
17-66929306-C-T c.570+3G>A splice_region ABCA8 1 82710 1.20904E-5 41355 0 8.24375E-5
17-66929307-A-G c.570+2T>C splice_donor ABCA8 1 82710 1.20904E-5 41355 0 NA
17-66929308-C-A c.570+1G>T splice_donor ABCA8 1 82726 1.20881E-5 41363 0 4.00949E-6
17-66929312-T-C p.Ile189Met missense ABCA8 5 82794 6.03908E-5 41397 0 3.19944E-4
17-66929317-T-C p.Ile188Val missense ABCA8 2 82852 2.41394E-5 41426 0 6.25E-4
17-66929324-A-G p.Asn185Asn synonymous ABCA8 1 82908 1.20616E-5 41454 0 3.18471E-5
17-66929335-C-T p.Ala182Thr missense ABCA8 6 82930 7.23502E-5 41465 0 3.18552E-5
17-66929353-C-T p.Gly176Ser missense ABCA8 1 83004 1.20476E-5 41502 0 8.24348E-6
17-66929367-A-G p.Val171Ala missense ABCA8 1 83014 1.20462E-5 41507 0 3.18552E-5
17-66929367-A-T p.Val171Glu missense ABCA8 1 83014 1.20462E-5 41507 0 1.48424E-4
17-66929382-T-G p.Tyr166Ser missense ABCA8 46 82996 5.54244E-4 41498 1 0.00162462
17-66929391-T-G p.Glu163Ala missense ABCA8 3 82944 3.6169E-5 41472 0 4.00221E-6
17-66929392-CATTT-C p.Asn162fs frameshift ABCA8 1 82934 1.20578E-5 41467 0 4.00275E-6
17-66929397-G-C p.Thr161Arg missense ABCA8 8 82890 9.65135E-5 41445 0 1.59449E-4
17-66929410-G-C p.His157Asp missense+splice_region ABCA8 4 82752 4.83372E-5 41376 0 3.26536E-5
17-66929414-T-G c.467-2A>C splice_acceptor ABCA8 1 82618 1.21039E-5 41309 0 NA
17-66933092-C-G p.Ala156Pro missense+splice_region ABCA8 1 82540 1.21153E-5 41270 0 NA
17-66933101-C-T p.Asp153Asn missense ABCA8 2 82940 2.41138E-5 41470 0 1.26057E-5
17-66933108-C-T p.Glu150Glu synonymous ABCA8 2 82942 2.41132E-5 41471 0 NA
17-66933118-GC-AT p.Ala147Ile missense ABCA8 1 82936 1.20575E-5 41468 0 NA
17-66933120-T-C p.Pro146Pro synonymous ABCA8 3 82910 3.61838E-5 41455 0 3.18634E-5
17-66933124-A-G p.Met145Thr missense ABCA8 3 82918 3.61803E-5 41459 0 8.2872E-6
17-66933130-T-G p.His143Pro missense ABCA8 1 82952 1.20552E-5 41476 0 8.2272E-6
17-66933138-C-A p.Leu140Phe missense ABCA8 3 82964 3.61603E-5 41482 0 NA
17-66933144-C-T p.Lys138Lys synonymous ABCA8 1 82982 1.20508E-5 41491 0 NA
17-66933156-T-C p.Ser134Ser synonymous ABCA8 116 82996 0.00139766 41498 3 0.00216712
17-66933165-A-G p.Asn131Asn synonymous ABCA8 1 83008 1.2047E-5 41504 0 8.25941E-6
17-66933175-G-A p.Thr128Ile missense ABCA8 70 83000 8.43373E-4 41500 0 8.60805E-4
17-66933183-T-TA p.Arg126fs frameshift ABCA8 2 82988 2.40999E-5 41494 0 NA
17-66933187-A-G p.Ile124Thr missense ABCA8 1 82992 1.20494E-5 41496 0 NA
17-66933189-T-A p.Glu123Asp missense ABCA8 1 82994 1.20491E-5 41497 0 3.18817E-5
17-66933194-C-T p.Glu122Lys missense ABCA8 7 82980 8.43577E-5 41490 0 3.62579E-5
17-66933196-G-A p.Pro121Leu missense ABCA8 1 82980 1.20511E-5 41490 0 1.65079E-5
17-66933197-G-A p.Pro121Ser missense ABCA8 2 82972 2.41045E-5 41486 0 3.18674E-5
17-66933209-T-C p.Thr117Ala missense ABCA8 1 82944 1.20563E-5 41472 0 NA
17-66933225-T-G p.Glu111Asp missense ABCA8 4 82874 4.8266E-5 41437 0 6.37227E-5
17-66933225-T-C p.Glu111Glu synonymous ABCA8 2 82874 2.4133E-5 41437 0 9.5584E-5
17-66933233-C-G p.Asp109His missense ABCA8 1 82826 1.20735E-5 41413 0 NA
17-66933234-T-C p.Pro108Pro synonymous ABCA8 3 82824 3.62214E-5 41412 0 9.55962E-5
17-66933263-T-C c.302-7A>G splice_region ABCA8 1 82158 1.21717E-5 41079 0 NA
17-66936894-C-G c.301+5G>C splice_region ABCA8 4 82990 4.81986E-5 41495 0 1.9952E-5
17-66936896-T-TA c.301+2_301+3insT splice_donor ABCA8 3 83004 3.61428E-5 41502 0 8.26665E-6
17-66936901-G-A p.Ala100Val missense+splice_region ABCA8 2 83022 2.409E-5 41511 0 7.97289E-6
17-66936908-AG-A p.Phe98fs frameshift ABCA8 2 83052 2.40813E-5 41526 0 NA
17-66936919-G-T p.Ala94Asp missense ABCA8 1 83094 1.20346E-5 41547 0 NA
17-66936923-C-G p.Val93Leu missense ABCA8 1 83106 1.20328E-5 41553 0 8.28446E-6
17-66936931-A-C p.Met90Arg missense ABCA8 1 83142 1.20276E-5 41571 0 NA
17-66936942-G-T p.Thr86Thr synonymous ABCA8 116 83162 0.00139487 41581 3 0.00216616
17-66936945-C-T p.Thr85Thr synonymous ABCA8 2 83158 2.40506E-5 41579 0 9.07501E-5
17-66936945-C-G p.Thr85Thr synonymous ABCA8 1 83158 1.20253E-5 41579 0 3.98118E-6
17-66936952-G-A p.Thr83Ile missense ABCA8