Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-66972061-G-T p.Pro1624Thr missense ABCA9 1 83168 1.20239E-5 41584 0 NA
17-66972068-C-T p.Gln1621Gln synonymous ABCA9 1 83284 1.20071E-5 41642 0 NA
17-66972083-C-T p.Trp1616* stop_gained ABCA9 1 83332 1.20002E-5 41666 0 8.00064E-6
17-66972086-C-A p.Lys1615Asn missense ABCA9 2 83334 2.39998E-5 41667 0 3.99898E-6
17-66972092-C-T p.Ser1613Ser synonymous ABCA9 18 83336 2.15993E-4 41668 0 0.00302115
17-66972093-G-A p.Ser1613Leu missense ABCA9 3 83336 3.59988E-5 41668 0 5.03525E-4
17-66972105-T-C p.Asp1609Gly missense ABCA9 3 83342 3.59963E-5 41671 0 3.18552E-5
17-66972118-C-T p.Asp1605Asn missense ABCA9 2 83350 2.39952E-5 41675 0 NA
17-66972157-A-G c.4777-3T>C splice_region ABCA9 73 83332 8.76014E-4 41666 1 0.00148863
17-66972160-A-C c.4777-6T>G splice_region ABCA9 1 83330 1.20005E-5 41665 0 1.59721E-5
17-66972274-A-G c.4776+2T>C splice_donor ABCA9 1 83226 1.20155E-5 41613 0 NA
17-66972279-C-T p.Glu1591Glu synonymous ABCA9 8 83222 9.61284E-5 41611 0 2.86661E-4
17-66972287-T-G p.Thr1589Pro missense ABCA9 1 83220 1.20163E-5 41610 0 NA
17-66972299-G-A p.Leu1585Phe missense ABCA9 2 83206 2.40367E-5 41603 0 1.64842E-5
17-66972307-T-C p.Glu1582Gly missense ABCA9 1 83200 1.20192E-5 41600 0 NA
17-66972315-G-A p.Asp1579Asp synonymous ABCA9 2 83170 2.40471E-5 41585 0 4.12215E-5
17-66972318-G-A p.Phe1578Phe synonymous ABCA9 2 83162 2.40494E-5 41581 0 6.37796E-5
17-66978696-C-T c.4720+7G>A splice_region ABCA9 2 83190 2.40414E-5 41595 0 NA
17-66978706-T-G p.Ile1573Leu missense ABCA9 1 83204 1.20187E-5 41602 0 3.97782E-6
17-66978729-G-A p.Ser1565Leu missense ABCA9 2 83228 2.40304E-5 41614 0 NA
17-66978735-G-A p.Pro1563Leu missense ABCA9 1 83228 1.20152E-5 41614 0 NA
17-66978738-C-T p.Arg1562Gln missense ABCA9 6 83222 7.20963E-5 41611 0 7.41534E-5
17-66978739-G-A p.Arg1562* stop_gained ABCA9 10 83212 1.20175E-4 41606 1 5.04541E-4
17-66978742-C-T p.Val1561Met missense ABCA9 2 83218 2.40333E-5 41609 0 3.18431E-5
17-66978766-C-T p.Val1553Ile missense ABCA9 1 83154 1.20259E-5 41577 0 1.64848E-5
17-66978773-G-A p.Ser1550Ser synonymous ABCA9 2 83100 2.40674E-5 41550 0 NA
17-66978782-C-G p.Arg1547Ser missense+splice_region ABCA9 1 83072 1.20378E-5 41536 0 1.98988E-5
17-66978783-C-T c.4641-1G>A splice_acceptor ABCA9 5 83060 6.01974E-5 41530 0 5.17401E-5
17-66978784-T-C c.4641-2A>G splice_acceptor ABCA9 3 83046 3.61246E-5 41523 0 NA
17-66978786-C-T c.4641-4G>A splice_region ABCA9 10 83020 1.20453E-4 41510 0 3.50586E-4
17-66978787-G-A c.4641-5C>T splice_region ABCA9 3 83016 3.61376E-5 41508 0 6.3743E-5
17-66978789-A-C c.4641-7T>G splice_region ABCA9 1 83002 1.20479E-5 41501 0 1.64943E-5
17-66979843-T-C c.4640+7A>G splice_region ABCA9 1 82952 1.20552E-5 41476 0 5.97305E-5
17-66979866-C-T p.Ala1542Thr missense ABCA9 1 83254 1.20114E-5 41627 0 NA
17-66979873-G-A p.Phe1539Phe synonymous ABCA9 1 83280 1.20077E-5 41640 0 NA
17-66979874-A-G p.Phe1539Ser missense ABCA9 14 83286 1.68095E-4 41643 0 5.03525E-4
17-66979875-A-G p.Phe1539Leu missense ABCA9 1 83292 1.2006E-5 41646 0 NA
17-66979882-C-T p.Leu1536Leu synonymous ABCA9 13 83296 1.5607E-4 41648 0 1.31246E-4
17-66979888-C-G p.Glu1534Asp missense ABCA9 1 83304 1.20042E-5 41652 0 NA
17-66979888-C-A p.Glu1534Asp missense ABCA9 1 83304 1.20042E-5 41652 0 NA
17-66979900-G-A p.Pro1530Pro synonymous ABCA9 2 83320 2.40038E-5 41660 0 NA
17-66979900-GGG-CGC p.Pro1530Ala missense ABCA9 3 83320 3.60058E-5 41660 0 NA
17-66979902-G-C p.Pro1530Ala missense ABCA9 11 83320 1.32021E-4 41660 0 3.82141E-4
17-66979904-T-A p.Glu1529Val missense ABCA9 1 83324 1.20013E-5 41662 0 NA
17-66979923-T-C p.Lys1523Glu missense ABCA9 1 83358 1.19964E-5 41679 0 NA
17-66979930-C-T p.Met1520Ile missense ABCA9 1 83364 1.19956E-5 41682 0 8.23655E-6
17-66979933-C-T p.Glu1519Glu synonymous ABCA9 1 83368 1.1995E-5 41684 0 NA
17-66979934-T-A p.Glu1519Val missense ABCA9 2 83358 2.39929E-5 41679 0 NA
17-66979934-T-C p.Glu1519Gly missense ABCA9 1 83358 1.19964E-5 41679 0 NA
17-66979936-C-T p.Leu1518Leu synonymous ABCA9 1 83362 1.19959E-5 41681 0 NA
17-66980202-C-T p.Arg1498Arg synonymous ABCA9 1 83130 1.20294E-5 41565 0 NA
17-66980203-C-T p.Arg1498Lys missense ABCA9 1 83142 1.20276E-5 41571 0 7.96597E-6
17-66980227-C-T p.Arg1490Gln missense ABCA9 4 83122 4.8122E-5 41561 0 4.94413E-5
17-66980227-C-A p.Arg1490Leu missense ABCA9 1 83122 1.20305E-5 41561 0 3.98086E-6
17-66980232-A-G p.Cys1488Cys synonymous ABCA9 1 83126 1.20299E-5 41563 0 3.18532E-5
17-66980237-C-T p.Val1487Met missense ABCA9 2 83118 2.40622E-5 41559 0 0.001875
17-66980237-C-G p.Val1487Leu missense ABCA9 1 83118 1.20311E-5 41559 0 NA
17-66980238-C-T p.Ala1486Ala synonymous ABCA9 2 83112 2.40639E-5 41556 0 3.18451E-5
17-66980246-C-G p.Ala1484Pro missense ABCA9 2 83128 2.40593E-5 41564 0 3.97991E-6
17-66980263-G-A p.Thr1478Ile missense ABCA9 4 83104 4.81325E-5 41552 0 1.19397E-5
17-66980277-G-A p.Gly1473Gly synonymous ABCA9 9 83098 1.08306E-4 41549 0 6.25E-4
17-66980286-C-T p.Thr1470Thr synonymous ABCA9 5 83124 6.01511E-5 41562 0 9.55171E-5
17-66980287-G-A p.Thr1470Met missense ABCA9 7 83122 8.42136E-5 41561 0 8.24144E-5
17-66980299-G-A p.Thr1466Ile missense ABCA9 2 83164 2.40489E-5 41582 0 NA
17-66980305-C-T p.Arg1464Gln missense ABCA9 1 83160 1.2025E-5 41580 0 3.18593E-5
17-66980311-A-T p.Val1462Glu missense ABCA9 1 83168 1.20239E-5 41584 0 8.25737E-6
17-66980312-C-T p.Val1462Met missense ABCA9 1 83176 1.20227E-5 41588 0 8.25764E-6
17-66981019-A-C c.4379+7T>G splice_region ABCA9 37 82464 4.48681E-4 41232 0 0.00185408
17-66981026-C-T p.Trp1460* stop_gained ABCA9 2 82582 2.42184E-5 41291 0 1.64785E-5
17-66981031-T-C p.Gln1458Gln synonymous ABCA9 1 82700 1.20919E-5 41350 0 8.23791E-6
17-66981032-T-G p.Gln1458Pro missense ABCA9 10 82708 1.20907E-4 41354 0 9.88582E-5
17-66981038-T-C p.Gln1456Arg missense ABCA9 1 82806 1.20764E-5 41403 0 8.23778E-6
17-66981040-C-G p.Gly1455Gly synonymous ABCA9 1 82828 1.20732E-5 41414 0 1.64742E-5
17-66981045-C-T p.Glu1454Lys missense ABCA9 2 82908 2.41231E-5 41454 0 1.64737E-5
17-66981046-G-A p.Pro1453Pro synonymous ABCA9 4 82932 4.82323E-5 41466 0 6.25E-4
17-66981047-G-A p.Pro1453Leu missense ABCA9 1 82956 1.20546E-5 41478 0 NA
17-66981048-G-T p.Pro1453Thr missense ABCA9 395 82960 0.00476133 41480 0 0.00455704
17-66981055-C-T p.Gly1450Gly synonymous ABCA9 1 83000 1.20482E-5 41500 0 8.23655E-6
17-66981057-C-T p.Gly1450Arg missense ABCA9 1 83020 1.20453E-5 41510 0 4.11834E-5
17-66981058-G-A p.Thr1449Thr synonymous ABCA9 188 83020 0.00226451 41510 1 0.00144374
17-66981061-C-T p.Ser1448Ser synonymous ABCA9 1 83062 1.20392E-5 41531 0 1.19314E-5
17-66981062-G-A p.Ser1448Leu missense ABCA9 9 83090 1.08316E-4 41545 0 9.56206E-5
17-66981062-G-T p.Ser1448* stop_gained ABCA9 1 83090 1.20351E-5 41545 0 NA
17-66981069-C-T p.Glu1446Lys missense ABCA9 1 83188 1.2021E-5 41594 0 NA
17-66981085-T-C p.Ser1440Ser synonymous ABCA9 1 83244 1.20129E-5 41622 0 8.23642E-6
17-66981088-C-T p.Pro1439Pro synonymous ABCA9 1 83258 1.20109E-5 41629 0 3.18593E-5
17-66981100-G-A p.Ile1435Ile synonymous ABCA9 1 83292 1.2006E-5 41646 0 NA
17-66981107-A-C p.Leu1433Arg missense ABCA9 2 83320 2.40038E-5 41660 0 NA
17-66981118-C-T p.Leu1429Leu splice_region+synonymous ABCA9 2 83338 2.39987E-5 41669 0 3.29457E-5
17-66981121-C-A c.4285-1G>T splice_acceptor ABCA9 2 83334 2.39998E-5 41667 0 NA
17-66981127-C-T c.4285-7G>A splice_region ABCA9 12 83332 1.44002E-4 41666 0 2.38612E-5
17-66981187-C-A c.4284+7G>T splice_region ABCA9 2 83352 2.39946E-5 41676 0 NA
17-66981189-C-T c.4284+5G>A splice_region ABCA9 3 83350 3.59928E-5 41675 0 1.64737E-5
17-66981189-C-G c.4284+5G>C splice_region ABCA9 2 83350 2.39952E-5 41675 0 NA
17-66981190-G-A c.4284+4C>T splice_region ABCA9 1 83348 1.19979E-5 41674 0 2.38614E-5
17-66981199-G-A p.Arg1427* stop_gained ABCA9 11 83356 1.31964E-4 41678 0 1.15324E-4
17-66981209-C-T p.Glu1423Glu synonymous ABCA9 1 83362 1.19959E-5 41681 0 NA
17-66981215-C-T p.Leu1421Leu synonymous ABCA9 2 83348 2.39958E-5 41674 0 8.23655E-6
17-66981226-C-T p.Val1418Met missense ABCA9 6 83342 7.19925E-5 41671 0 3.18431E-5
17-66981227-G-A p.Pro1417Pro synonymous ABCA9 6 83332 7.20012E-5 41666 0 8.23669E-5
17-66981232-C-A p.Ala1416Ser missense ABCA9 1 83326 1.20011E-5 41663 0 3.97712E-6
17-66981234-T-C p.Lys1415Arg missense ABCA9 12 83328 1.44009E-4 41664 0 1.91107E-4
17-66981254-G-A p.Leu1408Leu synonymous ABCA9 3 83292 3.60179E-5 41646 0 3.18431E-5
17-66981257-C-A p.Ala1407Ala synonymous ABCA9 89 83274 0.00106876 41637 1 0.0018785
17-66981258-G-A p.Ala1407Val missense ABCA9 4 83270 4.80365E-5 41635 0 8.23683E-6
17-66981264-A-G p.Val1405Ala missense ABCA9 1 83264 1.201E-5 41632 0 NA
17-66981266-T-A p.Leu1404Phe missense ABCA9 1 83250 1.2012E-5 41625 0 NA
17-66982301-G-A c.4208+4C>T splice_region ABCA9 23 83166 2.76555E-4 41583 0 5.74236E-4
17-66982305-C-T p.Arg1403Gln missense+splice_region ABCA9 1 83192 1.20204E-5 41596 0 8.52268E-6
17-66982306-G-A p.Arg1403Trp missense+splice_region ABCA9 2 83208 2.40361E-5 41604 0 7.65423E-5
17-66982313-G-T p.Ala1400Ala synonymous ABCA9 1 83236 1.2014E-5 41618 0 4.04057E-6
17-66982322-T-C p.Ala1397Ala synonymous ABCA9 9 83254 1.08103E-4 41627 0 1.27518E-4
17-66982324-C-T p.Ala1397Thr missense ABCA9 12 83248 1.44148E-4 41624 0 1.83587E-4
17-66982325-G-A p.Asp1396Asp synonymous ABCA9 1 83252 1.20117E-5 41626 0 9.56267E-5
17-66982325-G-T p.Asp1396Glu missense ABCA9 1 83252 1.20117E-5 41626 0 3.18756E-5
17-66982338-A-G p.Leu1392Pro missense ABCA9 1 83274 1.20085E-5 41637 0 NA
17-66982342-C-T p.Gly1391Ser missense ABCA9 3 83272 3.60265E-5 41636 0 1.65235E-5
17-66982348-C-T p.Val1389Met missense ABCA9 1 83286 1.20068E-5 41643 0 5.59195E-5
17-66982349-G-A p.Ala1388Ala synonymous ABCA9 1 83280 1.20077E-5 41640 0 3.18756E-5
17-66982354-C-T p.Ala1387Thr missense ABCA9 1 83276 1.20083E-5 41638 0 1.99529E-5
17-66982355-G-C p.Tyr1386* stop_gained ABCA9 17 83264 2.0417E-4 41632 0 6.7815E-5
17-66982355-G-A p.Tyr1386Tyr synonymous ABCA9 4 83264 4.804E-5 41632 0 4.78694E-5
17-66982371-T-C p.Gln1381Arg missense ABCA9 1 83272 1.20088E-5 41636 0 NA
17-66982374-C-T p.Arg1380Lys missense ABCA9 1 83278 1.2008E-5 41639 0 3.98092E-6
17-66982378-C-A p.Val1379Leu missense ABCA9 11 83290 1.32069E-4 41645 0 NA
17-66982378-C-T p.Val1379Met missense ABCA9 1 83290 1.20062E-5 41645 0 NA
17-66982394-C-T p.Leu1373Leu synonymous ABCA9 2 83286 2.40136E-5 41643 0 NA
17-66982395-A-G p.Leu1373Pro missense ABCA9 2 83292 2.40119E-5 41646 0 NA
17-66982397-C-T p.Ala1372Ala synonymous ABCA9 4 83296 4.80215E-5 41648 0 6.37064E-5
17-66982398-G-A p.Ala1372Val missense ABCA9 6 83302 7.20271E-5 41651 0 6.25E-4
17-66982406-C-T p.Gln1369Gln synonymous ABCA9 3 83300 3.60144E-5 41650 0 7.56845E-5
17-66982410-G-A p.Pro1368Leu missense ABCA9 6 83296 7.20323E-5 41648 0 9.55597E-5
17-66982413-C-G p.Cys1367Ser missense ABCA9 2 83298 2.40102E-5 41649 0 NA
17-66982422-A-G p.Leu1364Pro missense ABCA9 5 83298 6.00254E-5 41649 0 4.78954E-5
17-66982427-G-A p.Gly1362Gly synonymous ABCA9 27 83290 3.24169E-4 41645 0 0.00195703
17-66982428-C-T p.Gly1362Asp missense ABCA9 1 83290 1.20062E-5 41645 0 NA
17-66982443-C-T p.Gly1357Glu missense ABCA9 1 83274 1.20085E-5 41637 0 8.32238E-6
17-66982447-C-T p.Gly1356Ser missense ABCA9 2142 83208 0.0257427 41604 147 0.0491939
17-66982448-G-A p.Ser1355Ser synonymous ABCA9 1 83260 1.20106E-5 41630 0 1.22847E-5
17-66982449-C-T p.Ser1355Asn missense ABCA9 1 83256 1.20111E-5 41628 0 8.35645E-6
17-66982461-A-G p.Ile1351Thr missense ABCA9 1 83184 1.20215E-5 41592 0 8.42673E-6
17-66982463-C-G p.Val1350Val splice_region+synonymous ABCA9 5 83172 6.01164E-5 41586 0 1.91071E-4
17-66982464-A-G p.Val1350Ala missense+splice_region ABCA9 1 83156 1.20256E-5 41578 0 NA
17-66982471-CA-C c.4048-7delT splice_region ABCA9 2 83120 2.40616E-5 41560 0 NA
17-66985177-AGTT-A p.Thr1346del disruptive_inframe_deletion ABCA9 7 83162 8.41731E-5 41581 0 0.00105129
17-66985179-T-C p.Thr1346Ala missense ABCA9 1 83180 1.20221E-5 41590 0 2.47545E-5
17-66985188-T-C p.Thr1343Ala missense ABCA9 2 83202 2.40379E-5 41601 0 4.77456E-5
17-66985198-T-C p.Ile1339Met missense ABCA9 1 83218 1.20166E-5 41609 0 8.24226E-6
17-66985209-T-C p.Ile1336Val missense ABCA9 2 83218 2.40333E-5 41609 0 1.64821E-5
17-66985210-A-T p.Thr1335Thr synonymous ABCA9 2 83228 2.40304E-5 41614 0 NA
17-66985232-T-C p.Asn1328Ser missense ABCA9 1 83220 1.20163E-5 41610 0 8.24158E-6
17-66985235-T-G p.His1327Pro missense ABCA9 2 83192 2.40408E-5 41596 0 NA
17-66985242-A-G p.Leu1325Leu synonymous ABCA9 35 83170 4.20825E-4 41585 0 7.32531E-4
17-66985246-T-C p.Gly1323Gly synonymous ABCA9 1 83156 1.20256E-5 41578 0 3.18471E-5
17-66985250-A-G p.Ile1322Thr missense ABCA9 2 83130 2.40587E-5 41565 0 3.18847E-5
17-66985257-C-T p.Glu1320Lys missense+splice_region ABCA9 1 83082 1.20363E-5 41541 0 NA
17-66985261-TGAAA-T c.3956-6_3956-3delTTTC splice_region ABCA9 1 83008 1.2047E-5 41504 0 NA
17-66985265-A-G c.3956-6T>C splice_region ABCA9 51 82966 6.1471E-4 41483 1 0.00875
17-66985948-T-G c.3955+6A>C splice_region ABCA9 2 82590 2.4216E-5 41295 0 NA
17-66985949-C-T c.3955+5G>A splice_region ABCA9 9 82628 1.08922E-4 41314 0 6.47957E-5
17-66985954-C-CT p.Gly1319fs frameshift ABCA9 4 82710 4.83617E-5 41355 0 1.71497E-5
17-66985975-C-CA p.Val1312fs frameshift ABCA9 1 82962 1.20537E-5 41481 0 3.9985E-6
17-66985979-T-A p.Arg1310Ser missense ABCA9 1 82970 1.20525E-5 41485 0 1.66179E-5
17-66985983-G-A p.Thr1309Ile missense ABCA9 57 82970 6.86995E-4 41485 0 0.0025
17-66985987-C-A p.Ala1308Ser missense ABCA9 1 82978 1.20514E-5 41489 0 NA
17-66985989-A-G p.Ile1307Thr missense ABCA9 1 82982 1.20508E-5 41491 0 3.18735E-5
17-66985992-T-G p.Lys1306Thr missense ABCA9 46208 81860 0.564476 40930 13975 0.615625
17-66985996-TCTTC-T p.Lys1306fs frameshift ABCA9 7 82996 8.43414E-5 41498 0 2.79122E-5
17-66986000-C-T p.Arg1303Arg synonymous ABCA9 1 82996 1.20488E-5 41498 0 NA
17-66986001-C-T p.Arg1303Lys missense ABCA9 3 82996 3.61463E-5 41498 0 1.65079E-5
17-66986012-G-A p.Cys1299Cys synonymous ABCA9 3 82988 3.61498E-5 41494 0 NA
17-66986013-C-G p.Cys1299Ser missense ABCA9 5 82992 6.02468E-5 41496 0 1.59297E-4
17-66986015-A-G p.Asn1298Asn synonymous ABCA9 2 82990 2.40993E-5 41495 0 4.78816E-5
17-66986016-T-C p.Asn1298Ser missense ABCA9 17 83010 2.04795E-4 41505 0 2.86569E-4
17-66986043-C-T p.Arg1289Gln missense ABCA9 2 82974 2.41039E-5 41487 0 0.00100705
17-66986044-G-A p.Arg1289Trp missense ABCA9 6 82960 7.2324E-5 41480 0 6.60611E-5
17-66986051-G-A p.Ser1286Ser synonymous ABCA9 1 82960 1.2054E-5 41480 0 9.55414E-5
17-66986056-C-T p.Ala1285Thr missense ABCA9 3 82948 3.61672E-5 41474 0 1.07557E-4
17-66986058-A-G p.Ile1284Thr missense ABCA9 2 82968 2.41057E-5 41484 0 8.08865E-6
17-66986061-A-G p.Ile1283Thr missense ABCA9 1 82952 1.20552E-5 41476 0 NA
17-66986066-G-A n.635C>T splice_region ABCA9 3 82926 3.61768E-5 41463 0 5.80826E-5
17-66986067-G-C p.Pro1281Arg missense ABCA9 1 82930 1.20584E-5 41465 0 NA
17-66986070-G-A p.Thr1280Ile missense+splice_region ABCA9 1 82908 1.20616E-5 41454 0 8.31103E-6
17-66986971-G-A c.3837+7C>T splice_region ABCA9 9 83138 1.08254E-4 41569 0 3.50385E-4
17-66986980-C-T p.Glu1279Lys missense+splice_region ABCA9 2 83168 2.40477E-5 41584 0 NA
17-66986988-T-C p.Asp1276Gly missense ABCA9 2 83198 2.4039E-5 41599 0 3.18512E-5
17-66986991-C-T p.Arg1275Gln missense ABCA9 2 83204 2.40373E-5 41602 0 3.59454E-5
17-66986993-C-T p.Val1274Val synonymous ABCA9 4 83214 4.80688E-5 41607 0 6.79055E-5
17-66986998-C-A p.Ala1273Ser missense ABCA9 1 83226 1.20155E-5 41613 0 7.96927E-6
17-66987012-G-A p.Thr1268Ile missense ABCA9 1 83222 1.20161E-5 41611 0 0.0020141
17-66987027-A-G p.Met1263Thr missense ABCA9 1 83222 1.20161E-5 41611 0 1.64894E-5
17-66987030-T-C p.Gln1262Arg missense ABCA9 3 83224 3.60473E-5 41612 0 3.1839E-5
17-66987031-G-A p.Gln1262* stop_gained ABCA9 1 83236 1.2014E-5 41618 0 1.64889E-5
17-66987055-G-GAAA p.Glu1253_Pro1254insPhe conservative_inframe_insertion ABCA9 1 83228 1.20152E-5 41614 0 NA
17-66987057-TCTTC-T p.Glu1252fs frameshift ABCA9 1 83230 1.20149E-5 41615 0 NA
17-66987076-T-C p.Ile1247Val missense ABCA9 1 83200 1.20192E-5 41600 0 3.30022E-5
17-66987079-C-T p.Ala1246Thr missense ABCA9 1 83188 1.2021E-5 41594 0 3.30033E-5
17-66987080-G-A p.Asn1245Asn synonymous ABCA9 8 83192 9.61631E-5 41596 0 9.55657E-5
17-66987093-G-T p.Ser1241Tyr missense ABCA9 1 83160 1.2025E-5 41580 0 NA
17-66987099-C-G c.3717-1G>C splice_acceptor ABCA9 1 83154 1.20259E-5 41577 0 NA
17-66988312-C-T c.3716+4G>A splice_region ABCA9 2 82620 2.42072E-5 41310 0 8.33214E-5
17-66988321-C-A p.Val1237Val synonymous ABCA9 17 82758 2.05418E-4 41379 0 1.01948E-4
17-66988349-C-T p.Arg1228Lys missense ABCA9 1 82982 1.20508E-5 41491 0 4.13733E-6
17-66988351-G-A p.Cys1227Cys synonymous ABCA9 1 82970 1.20525E-5 41485 0 NA
17-66988360-T-C p.Glu1224Glu synonymous ABCA9 1 82998 1.20485E-5 41499 0 NA
17-66988365-G-C p.Leu1223Val missense ABCA9 1 82942 1.20566E-5 41471 0 NA
17-66988369-T-C p.Arg1221Arg synonymous ABCA9 1 82918 1.20601E-5 41459 0 5.67125E-5
17-66988370-C-T p.Arg1221Gln missense ABCA9 1 82874 1.20665E-5 41437 0 1.6722E-5
17-66988371-G-T p.Arg1221Arg synonymous ABCA9 5 82872 6.0334E-5 41436 0 5.03525E-4
17-66988371-G-A p.Arg1221* stop_gained ABCA9 2 82872 2.41336E-5 41436 0 6.25E-4
17-66988398-G-A p.His1212Tyr missense ABCA9 27 82712 3.26434E-4 41356 1 7.64526E-4
17-66989164-A-C p.Leu1206Arg missense ABCA9 1 83158 1.20253E-5 41579 0 NA
17-66989179-A-G p.Ile1201Thr missense ABCA9 2 83164 2.40489E-5 41582 0 NA
17-66989180-T-C p.Ile1201Val missense ABCA9 58 83162 6.97434E-4 41581 0 5.01624E-4
17-66989189-C-T p.Glu1198Lys missense ABCA9 1 83170 1.20236E-5 41585 0 2.48061E-5
17-66989195-C-T p.Ala1196Thr missense ABCA9 39 83154 4.69009E-4 41577 0 0.0025
17-66989209-A-T p.Met1191Lys missense ABCA9 1 83150 1.20265E-5 41575 0 NA
17-66989219-G-A p.Pro1188Ser missense ABCA9 2 83122 2.4061E-5 41561 0 3.98343E-6
17-66992058-C-T p.Gly1178Asp missense ABCA9 1 83192 1.20204E-5 41596 0 3.18512E-5
17-66992065-A-G p.Leu1176Leu synonymous ABCA9 4 83192 4.80815E-5 41596 0 1.99205E-5
17-66992073-G-A p.Pro1173Leu missense ABCA9 1 83196 1.20198E-5 41598 0 NA
17-66992090-G-A p.Gly1167Gly synonymous ABCA9 2 83194 2.40402E-5 41597 0 3.18979E-4
17-66992098-A-G p.Phe1165Leu missense ABCA9 1 83210 1.20178E-5 41605 0 7.96591E-6
17-66992103-C-T p.Gly1163Glu missense ABCA9 2 83208 2.40361E-5 41604 0 NA
17-66992109-A-T p.Phe1161Tyr missense ABCA9 2 83202 2.40379E-5 41601 0 3.98359E-6
17-66992112-C-A p.Gly1160Val missense ABCA9 1 83206 1.20184E-5 41603 0 8.24429E-6
17-66992114-A-G p.Tyr1159Tyr synonymous ABCA9 1 83210 1.20178E-5 41605 0 6.3674E-5
17-66992115-T-C p.Tyr1159Cys missense ABCA9 3 83208 3.60542E-5 41604 0 2.78864E-5
17-66992126-A-C p.Asp1155Glu missense ABCA9 1 83204 1.20187E-5 41602 0 1.64905E-5
17-66992148-A-G p.Ile1148Thr missense ABCA9 2 83178 2.40448E-5 41589 0 NA
17-67003898-A-T c.3435+2T>A splice_donor ABCA9 1 82710 1.20904E-5 41355 0 3.3305E-5
17-67003903-TAAG-T p.Phe1143del disruptive_inframe_deletion ABCA9 1 82772 1.20814E-5 41386 0 NA
17-67003909-G-T p.Phe1142Leu missense ABCA9 1 82870 1.20671E-5 41435 0 8.29284E-6
17-67003921-A-C p.Ile1138Met missense ABCA9 1 82974 1.2052E-5 41487 0 6.3678E-5
17-67003934-T-C p.Lys1134Arg missense ABCA9 2 83034 2.40865E-5 41517 0 NA
17-67003943-T-C p.Asn1131Ser missense ABCA9 1 83072 1.20378E-5 41536 0 9.0879E-5
17-67003945-G-A p.Arg1130Arg synonymous ABCA9 2 83064 2.40778E-5 41532 0 NA
17-67003947-G-A p.Arg1130Cys missense ABCA9 2 83062 2.40784E-5 41531 0 6.38407E-5
17-67003956-A-G p.Phe1127Leu missense ABCA9 1 83074 1.20375E-5 41537 0 7.97658E-6
17-67003960-A-G p.Ile1125Ile synonymous ABCA9 1 83064 1.20389E-5 41532 0 NA
17-67003966-A-G p.Tyr1123Tyr synonymous ABCA9 598 83044 0.007201 41522 2 0.0110887
17-67003970-G-C p.Thr1122Arg missense ABCA9 1 83048 1.20412E-5 41524 0 NA
17-67003975-G-T p.Phe1120Leu missense ABCA9 1 83054 1.20404E-5 41527 0 8.2631E-6
17-67003976-A-T p.Phe1120Tyr missense ABCA9 1 83060 1.20395E-5 41530 0 8.2631E-6
17-67003979-A-T p.Val1119Asp missense ABCA9 3 83040 3.61272E-5 41520 0 NA
17-67003997-C-T p.Gly1113Asp missense ABCA9 2 82874 2.4133E-5 41437 0 3.18654E-5
17-67004000-A-G p.Ile1112Thr missense ABCA9 1 82838 1.20718E-5 41419 0 NA
17-67004004-T-C p.Ser1111Gly missense ABCA9 3 82802 3.6231E-5 41401 0 4.02492E-6
17-67004011-G-A p.Ile1108Ile splice_region+synonymous ABCA9 326 82710 0.00394148 41355 1 0.00259563
17-67004012-A-C p.Ile1108Ser missense+splice_region ABCA9 1 82702 1.20916E-5 41351 0 NA
17-67004019-A-T c.3322-6T>A splice_region ABCA9 2 82560 2.42248E-5 41280 0 3.18471E-4
17-67004021-C-T c.3322-8G>A splice_region ABCA9 1 82556 1.2113E-5 41278 0 NA
17-67004214-G-T p.Leu1104Met missense ABCA9 39 83204 4.68727E-4 41602 0 0.0040282
17-67004223-TTATAAA-T p.Phe1099_Ile1100del conservative_inframe_deletion ABCA9 1 83222 1.20161E-5 41611 0 3.1835E-5
17-67004231-A-G p.Ile1098Thr missense ABCA9 1 83232 1.20146E-5 41616 0 3.18329E-5
17-67004232-T-C p.Ile1098Val missense ABCA9 2 83230 2.40298E-5 41615 0 6.3674E-5
17-67004239-C-T p.Glu1095Glu synonymous ABCA9 6 83232 7.20877E-5 41616 0 2.7966E-5
17-67004242-T-G p.Pro1094Pro synonymous ABCA9 2 83232 2.40292E-5 41616 0 NA
17-67004261-A-C p.Met1088Arg missense ABCA9 1 83252 1.20117E-5 41626 0 NA
17-67004278-G-A p.Leu1082Leu synonymous ABCA9 1 83274 1.20085E-5 41637 0 8.28624E-6
17-67004283-T-A p.Ile1081Phe missense ABCA9 137 83284 0.00164497 41642 0 0.0020141
17-67004286-A-G p.Leu1080Leu synonymous ABCA9 1 83290 1.20062E-5 41645 0 1.657E-5
17-67004310-G-A p.Leu1072Leu synonymous ABCA9 233 83296 0.00279725 41648 1 0.00226028
17-67004312-G-A p.Ala1071Val missense ABCA9 1 83294 1.20057E-5 41647 0 9.94266E-5
17-67004326-G-A p.Tyr1066Tyr synonymous ABCA9 1 83308 1.20036E-5 41654 0 1.65791E-5
17-67004337-G-A p.Pro1063Ser missense ABCA9 1 83308 1.20036E-5 41654 0 3.99818E-6
17-67004347-T-C p.Ser1059Ser synonymous ABCA9 1 83308 1.20036E-5 41654 0 1.66077E-5
17-67004348-G-C p.Ser1059* stop_gained ABCA9 1 83308 1.20036E-5 41654 0 4.0049E-6
17-67004354-C-T p.Arg1057Gln missense ABCA9 1 83298 1.20051E-5 41649 0 6.42075E-5
17-67004355-G-A p.Arg1057Trp missense ABCA9 1 83296 1.20054E-5 41648 0 8.30993E-6
17-67004376-T-A p.Lys1050* stop_gained ABCA9 14 83278 1.68112E-4 41639 0 3.18532E-5
17-67004382-A-T c.3148-6T>A splice_region ABCA9 3 83254 3.60343E-5 41627 0 NA
17-67008113-T-C c.3147+4A>G splice_region ABCA9 1 83132 1.20291E-5 41566 0 3.18451E-5
17-67008128-C-CT p.Gly1046fs frameshift ABCA9 1 83224 1.20158E-5 41612 0 NA
17-67008130-A-G p.Ile1045Thr missense ABCA9 14 83238 1.68192E-4 41619 0 6.25391E-4
17-67008130-A-T p.Ile1045Asn missense ABCA9 5 83240 6.00673E-5 41620 0 6.25391E-4
17-67008131-T-C p.Ile1045Val missense ABCA9 2 83236 2.40281E-5 41618 0 1.6629E-5
17-67008132-G-A p.Ser1044Ser synonymous ABCA9 2 83240 2.40269E-5 41620 0 6.37024E-5
17-67008134-T-C p.Ser1044Gly missense ABCA9 1 83244 1.20129E-5 41622 0 8.3062E-6
17-67008146-T-C p.Ile1040Val missense ABCA9 3 83258 3.60326E-5 41629 0 8.28761E-6
17-67008153-A-G p.Thr1037Thr synonymous ABCA9 1 83270 1.20091E-5 41635 0 7.98556E-6
17-67008166-G-C p.Ala1033Gly missense ABCA9 1 83258 1.20109E-5 41629 0 3.99253E-6
17-67008168-C-T p.Met1032Ile missense ABCA9 1 83260 1.20106E-5 41630 0 8.28212E-6
17-67008169-A-G p.Met1032Thr missense ABCA9 2 83262 2.40206E-5 41631 0 6.36862E-5
17-67008171-C-T p.Pro1031Pro synonymous ABCA9 4 83260 4.80423E-5 41630 0 4.14127E-5
17-67008171-C-A p.Pro1031Pro synonymous ABCA9 3 83260 3.60317E-5 41630 0 6.25E-4
17-67008172-G-A p.Pro1031Leu missense ABCA9 2 83256 2.40223E-5 41628 0 9.55779E-5
17-67008178-C-T p.Trp1029* stop_gained ABCA9 4 83264 4.804E-5 41632 0 6.36902E-5
17-67008187-G-A p.Thr1026Ile missense ABCA9 2 83262 2.40206E-5 41631 0 8.28336E-6
17-67008193-C-T p.Ser1024Asn missense ABCA9 1 83258 1.20109E-5 41629 0 NA
17-67008195-T-A p.Arg1023Arg synonymous ABCA9 18 83254 2.16206E-4 41627 0 3.50274E-4
17-67008196-C-T p.Arg1023Gln missense ABCA9 1 83242 1.20132E-5 41621 0 2.79584E-5
17-67008202-C-T p.Gly1021Glu missense ABCA9 2 83232 2.40292E-5 41616 0 NA
17-67008209-C-T p.Glu1019Lys missense ABCA9 1 83240 1.20135E-5 41620 0 4.00985E-6
17-67012387-T-C c.3039+7A>G splice_region ABCA9 32 82014 3.90177E-4 41007 0 1.27681E-4
17-67012389-C-A c.3039+5G>T splice_region ABCA9 1 82006 1.21942E-5 41003 0 1.73653E-5
17-67012426-G-A p.His1003Tyr missense ABCA9 1 82522 1.2118E-5 41261 0 3.19081E-5
17-67012434-G-A p.Ser1000Leu missense ABCA9 17 82482 2.06106E-4 41241 0 1.47554E-4
17-67012434-G-GAATT p.Ser1000fs frameshift ABCA9 2 82482 2.42477E-5 41241 0 3.19448E-5
17-67012437-T-A p.Asn999Ile missense ABCA9 1 82520 1.21183E-5 41260 0 NA
17-67012447-CAAG-C p.Leu995del conservative_inframe_deletion ABCA9 1 82506 1.21203E-5 41253 0 8.26952E-6
17-67012447-C-T p.Gly996Arg missense ABCA9 2 82504 2.42412E-5 41252 0 8.26952E-6
17-67012450-G-A p.Leu995Phe missense ABCA9 692 82506 0.00838727 41253 12 0.0186304
17-67012451-T-C p.Leu994Leu synonymous ABCA9 4 82542 4.84602E-5 41271 0 8.33604E-6
17-67012452-A-G p.Leu994Pro missense ABCA9 1 82556 1.2113E-5 41278 0 8.26556E-6
17-67012453-GTCC-G p.Gly993del conservative_inframe_deletion ABCA9 1 82610 1.21051E-5 41305 0 8.26556E-6
17-67012457-AT-A p.Asn992fs frameshift ABCA9 1 82624 1.2103E-5 41312 0 8.26419E-6
17-67012459-T-C p.Asn992Asp missense ABCA9 1 82626 1.21027E-5 41313 0 NA
17-67012480-C-G p.Val985Leu missense ABCA9 1 82516 1.21189E-5 41258 0 3.18898E-5
17-67012480-C-T p.Val985Ile missense ABCA9 2 82516 2.42377E-5 41258 0 3.18898E-5
17-67012482-G-A p.Pro984Leu missense ABCA9 1 82520 1.21183E-5 41260 0 4.15455E-6
17-67012494-A-G p.Leu980Pro missense ABCA9 1 82430 1.21315E-5 41215 0 NA
17-67012497-C-T p.Arg979Gln missense ABCA9 3 82392 3.64113E-5 41196 0 1.65618E-5
17-67012498-G-C p.Arg979Gly missense ABCA9 1 82352 1.2143E-5 41176 0 8.28295E-6
17-67012531-C-G p.Asp968His missense+splice_region ABCA9 59 81700 7.22154E-4 40850 0 9.89467E-4
17-67012532-C-T c.2902-1G>A splice_acceptor ABCA9 1 81612 1.22531E-5 40806 0 4.73794E-6
17-67012538-TACA-T c.2902-10_2902-8delTGT splice_region ABCA9 5 81486 6.13602E-5 40743 0 6.37714E-5
17-67013796-C-G c.2901+1G>C splice_donor ABCA9 2 82892 2.41278E-5 41446 0 NA
17-67013806-A-T p.Gly964Gly synonymous ABCA9 1 82976 1.20517E-5 41488 0 NA
17-67013812-C-A p.Val962Val synonymous ABCA9 1 83020 1.20453E-5 41510 0 NA
17-67013814-C-G p.Val962Leu missense ABCA9 1 83048 1.20412E-5 41524 0 NA
17-67013830-G-GT p.Tyr956fs frameshift ABCA9 1 83126 1.20299E-5 41563 0 3.98168E-6
17-67013837-G-A p.Pro954Leu missense ABCA9 1 83140 1.20279E-5 41570 0 3.98134E-6
17-67013880-T-C p.Ile940Val missense ABCA9 1 83230 1.20149E-5 41615 0 8.23981E-6
17-67013885-A-G p.Ile938Thr missense ABCA9 3 83240 3.60404E-5 41620 0 3.18573E-5
17-67013894-C-T p.Arg935Gln missense ABCA9 2 83234 2.40286E-5 41617 0 5.03525E-4
17-67013907-G-A p.His931Tyr missense ABCA9 2 83226 2.4031E-5 41613 0 2.86789E-4
17-67013913-A-G p.Phe929Leu missense ABCA9 98 83204 0.00117783 41602 0 7.32717E-4
17-67014546-A-G c.2767+8T>C splice_region ABCA9 22 81904 2.68607E-4 40952 0 2.06619E-4
17-67014553-C-T c.2767+1G>A splice_donor ABCA9 9 82268 1.09399E-4 41134 0 6.4373E-5
17-67014554-C-T p.Gly923Arg missense+splice_region ABCA9 3 82290 3.64564E-5 41145 0 3.18776E-5
17-67014562-T-C p.Asn920Ser missense ABCA9 5 82770 6.04084E-5 41385 0 9.22348E-6
17-67014564-G-A p.Ile919Ile synonymous ABCA9 1 82764 1.20825E-5 41382 0 8.42034E-6
17-67014579-G-A p.Thr914Thr synonymous ABCA9 2 83030 2.40877E-5 41515 0 3.1904E-5
17-67014580-G-A p.Thr914Ile missense ABCA9 1 83024 1.20447E-5 41512 0 1.6785E-5
17-67014583-A-G p.Leu913Pro missense ABCA9 1 83022 1.2045E-5 41511 0 8.36722E-6
17-67014595-GGTT-G p.Gln908del disruptive_inframe_deletion ABCA9 2 82998 2.4097E-5 41499 0 3.18735E-5
17-67014597-T-C p.Gln908Gln synonymous ABCA9 1 83014 1.20462E-5 41507 0 4.11191E-5
17-67014602-G-A p.Gln907* stop_gained ABCA9 2 83032 2.40871E-5 41516 0 NA
17-67014635-G-A p.Leu896Leu synonymous ABCA9 1 82876 1.20662E-5 41438 0 NA
17-67014642-C-T p.Pro893Pro synonymous ABCA9 2 82806 2.41528E-5 41403 0 9.57243E-5
17-67014643-G-A p.Pro893Leu missense ABCA9 29 82808 3.50208E-4 41404 0 3.54324E-4
17-67014643-G-T p.Pro893Gln missense ABCA9 1 82808 1.20761E-5 41404 0 4.07269E-6
17-67014657-A-C p.Tyr888* stop_gained ABCA9 1 82728 1.20878E-5 41364 0 2.02037E-5
17-67014658-T-C p.Tyr888Cys missense ABCA9 1 82718 1.20893E-5 41359 0 NA
17-67014663-C-T p.Glu886Glu synonymous ABCA9 6 82654 7.25918E-5 41327 0 0.0020202
17-67014665-C-T p.Glu886Lys missense ABCA9 1 82620 1.21036E-5 41310 0 1.22107E-5
17-67014666-G-A p.Tyr885Tyr synonymous ABCA9 9 82606 1.08951E-4 41303 0 3.18796E-5
17-67014674-G-C p.Leu883Val missense ABCA9 94 82468 0.00113984 41234 0 0.00197591
17-67014689-G-A p.Gln878* stop_gained ABCA9 2 82152 2.43451E-5 41076 0 7.55141E-5
17-67014689-G-T p.Gln878Lys missense ABCA9 1 82152 1.21726E-5 41076 0 NA
17-67014706-C-G p.Gly872Ala missense ABCA9 1 81598 1.22552E-5 40799 0 NA
17-67014714-C-T p.Leu869Leu synonymous ABCA9 4 81306 4.91969E-5 40653 0 1.33956E-5
17-67014723-A-G c.2601-3T>C splice_region ABCA9 3 80874 3.70947E-5 40437 0 4.94526E-6
17-67014723-A-T c.2601-3T>A splice_region ABCA9 2 80874 2.47298E-5 40437 0 NA
17-67016526-C-G c.2600+3G>C splice_region ABCA9 11 82848 1.32773E-4 41424 0 NA
17-67016529-A-G p.Ile867Thr missense+splice_region ABCA9 1 82884 1.20651E-5 41442 0 1.67552E-5
17-67016536-A-G p.Trp865Arg missense ABCA9 2 82966 2.41063E-5 41483 0 8.35213E-6
17-67016538-A-G p.Leu864Pro missense ABCA9 11 82978 1.32565E-4 41489 0 0.00151057
17-67016544-T-C p.Lys862Arg missense ABCA9 7 83028 8.43089E-5 41514 0 0.00151057
17-67016567-G-A p.Phe854Phe synonymous ABCA9 3 83038 3.6128E-5 41519 0 NA
17-67016571-C-T p.Arg853His missense ABCA9 6 83046 7.22491E-5 41523 0 3.98454E-5
17-67016572-G-A p.Arg853Cys missense ABCA9 4 83034 4.8173E-5 41517 0 7.97029E-6
17-67016593-C-A p.Val846Phe missense ABCA9 1 83014 1.20462E-5 41507 0 2.47394E-5
17-67016595-T-A p.Gln845Leu missense ABCA9 1 83014 1.20462E-5 41507 0 3.98216E-6
17-67016606-G-C p.Leu841Leu synonymous ABCA9 1 83020 1.20453E-5 41510 0 6.37064E-5
17-67016606-G-A p.Leu841Leu synonymous ABCA9 1 83020 1.20453E-5 41510 0 NA
17-67016608-G-A p.Leu841Phe missense ABCA9 1 83020 1.20453E-5 41510 0 NA
17-67016609-C-T p.Ala840Ala synonymous ABCA9 14 83014 1.68646E-4 41507 0 5.09619E-4
17-67016610-G-A p.Ala840Val missense ABCA9 7 83014 8.43231E-5 41507 0 7.16869E-5
17-67016614-C-T p.Val839Met missense ABCA9 2 83038 2.40854E-5 41519 0 4.9465E-5
17-67016615-G-A p.Gly838Gly synonymous ABCA9 6 83038 7.22561E-5 41519 0 5.03525E-4
17-67016616-C-T p.Gly838Asp missense ABCA9 1 83044 1.20418E-5 41522 0 NA
17-67016621-GA-G p.Ile836fs frameshift ABCA9 3 83076 3.61115E-5 41538 0 1.9906E-5
17-67016624-T-G p.Thr835Thr synonymous ABCA9 15 83078 1.80553E-4 41539 0 1.43313E-4
17-67016635-T-G p.Thr832Pro missense ABCA9 1 83082 1.20363E-5 41541 0 NA
17-67016638-C-T p.Glu831Lys missense ABCA9 1 83076 1.20372E-5 41538 0 3.18634E-5
17-67016639-G-A p.His830His synonymous ABCA9 3 83068 3.6115E-5 41534 0 6.37227E-5
17-67016645-G-A p.Ser828Ser synonymous ABCA9 4 83096 4.81371E-5 41548 0 3.18573E-5
17-67016665-G-C p.Leu822Val missense ABCA9 2 83118 2.40622E-5 41559 0 NA
17-67016666-C-T p.Glu821Glu synonymous ABCA9 7 83118 8.42176E-5 41559 0 4.37867E-5
17-67016668-C-T p.Glu821Lys missense ABCA9 2 83126 2.40599E-5 41563 0 3.98067E-6
17-67016682-A-G p.Ile816Thr missense ABCA9 16 83116 1.92502E-4 41558 0 5.03525E-4
17-67016701-T-C p.Thr810Ala missense ABCA9 6 83122 7.21831E-5 41561 0 6.3674E-5
17-67016709-T-G p.Gln807Pro missense ABCA9 1 83102 1.20334E-5 41551 0 NA
17-67016722-C-T p.Gly803Arg missense ABCA9 1 83050 1.20409E-5 41525 0 NA
17-67017898-T-A p.Thr796Ser missense ABCA9 1 82626 1.21027E-5 41313 0 3.18674E-5
17-67017925-C-A p.Val787Leu missense ABCA9 1 82732 1.20872E-5 41366 0 8.27048E-6
17-67017927-T-G p.Glu786Ala missense ABCA9 1 82764 1.20825E-5 41382 0 NA
17-67017930-T-C p.Asn785Ser missense ABCA9 2714 82684 0.0328238 41342 75 0.0441577
17-67017945-G-T p.Ser780Tyr missense ABCA9 2 82830 2.41458E-5 41415 0 NA
17-67017946-A-G p.Ser780Pro missense ABCA9 1 82876 1.20662E-5 41438 0 NA
17-67017951-C-T p.Gly778Asp missense ABCA9 1 82878 1.20659E-5 41439 0 NA
17-67017963-A-G p.Ile774Thr missense ABCA9 1 82790 1.20788E-5 41395 0 3.18654E-5
17-67017975-G-C p.Ser770Cys missense ABCA9 1 82562 1.21121E-5 41281 0 NA
17-67017980-T-G p.Arg768Ser missense ABCA9 2 82400 2.42718E-5 41200 0 4.3096E-6
17-67017981-C-G p.Arg768Thr missense ABCA9 1 82400 1.21359E-5 41200 0 8.2872E-6
17-67017982-T-C p.Arg768Gly missense ABCA9 1 82384 1.21383E-5 41192 0 1.6575E-5
17-67017990-T-G p.Asp765Ala missense ABCA9 1 82150 1.21729E-5 41075 0 4.15193E-5
17-67017992-C-T p.Arg764Arg synonymous ABCA9 1 81460 1.2276E-5 40730 0 NA
17-67017995-G-A p.Tyr763Tyr synonymous ABCA9 1 81346 1.22932E-5 40673 0 NA
17-67018009-G-A c.2282-7C>T splice_region ABCA9 5 81362 6.14537E-5 40681 0 5.87455E-5
17-67020356-T-C p.Pro760Pro splice_region+synonymous ABCA9 6 81026 7.40503E-5 40513 0 8.0025E-6
17-67020358-G-A p.Pro760Ser missense ABCA9 4 81058 4.93474E-5 40529 0 8.39814E-6
17-67020361-ATTTG-A p.Lys758fs frameshift ABCA9 2 81104 2.46597E-5 40552 0 3.18512E-5
17-67020389-A-C p.Tyr749* stop_gained ABCA9 8 81816 9.77804E-5 40908 0 3.8219E-4
17-67020399-T-C p.Lys746Arg missense ABCA9 1 82012 1.21933E-5 41006 0 NA
17-67020403-C-A p.Glu745* stop_gained ABCA9 2 82130 2.43516E-5 41065 1 NA
17-67020414-G-T p.Ala741Glu missense ABCA9 3 82304 3.64502E-5 41152 0 NA
17-67020415-C-T p.Ala741Thr missense ABCA9 1 82316 1.21483E-5 41158 0 NA
17-67020421-A-G p.Leu739Leu synonymous ABCA9 1 82324 1.21471E-5 41162 0 NA
17-67020428-A-G p.Asp736Asp synonymous ABCA9 1 82306 1.21498E-5 41153 0 8.85144E-6
17-67020429-T-A p.Asp736Val missense ABCA9 4 82292 4.86074E-5 41146 0 6.25782E-4
17-67020441-T-G p.Gln732Pro missense ABCA9 2 82268 2.43108E-5 41134 0 4.01088E-6
17-67020452-T-C p.Ser728Ser synonymous ABCA9 1 82274 1.21545E-5 41137 0 9.52653E-6
17-67020463-T-G p.Ser725Arg missense ABCA9 3 82244 3.64768E-5 41122 0 1.00122E-5
17-67020468-G-A p.Pro723Leu missense ABCA9 1 82224 1.21619E-5 41112 0 4.26719E-6
17-67020472-C-A p.Asp722Tyr missense ABCA9 1 82210 1.2164E-5 41105 0 4.34333E-6
17-67020472-C-G p.Asp722His missense ABCA9 1 82210 1.2164E-5 41105 0 NA
17-67020475-A-G p.Cys721Arg missense ABCA9 1 82158 1.21717E-5 41079 0 9.81547E-5
17-67022518-C-A p.Ser714Ile missense+splice_region ABCA9 1 82520 1.21183E-5 41260 0 6.38595E-5
17-67022540-A-ATTTC p.Trp707fs frameshift ABCA9 1 82720 1.2089E-5 41360 0 NA
17-67022551-A-G p.Leu703Pro missense ABCA9 1 82774 1.20811E-5 41387 0 8.2511E-6
17-67022580-C-T p.Lys693Lys synonymous ABCA9 6 82798 7.24655E-5 41399 0 6.36902E-5
17-67022604-C-T p.Arg685Arg synonymous ABCA9 1 82672 1.2096E-5 41336 0 3.18512E-5
17-67023111-A-G c.2050+6T>C splice_region ABCA9 47 82822 5.67482E-4 41411 0 3.18593E-4
17-67023117-C-T p.Asp684Asn missense+splice_region ABCA9 2 82852 2.41394E-5 41426 0 3.99135E-6
17-67023118-C-T p.Ala683Ala splice_region+synonymous ABCA9 4 82856 4.82765E-5 41428 0 1.19759E-5
17-67023119-G-A p.Ala683Val missense+splice_region ABCA9 47 82864 5.67194E-4 41432 0 6.25E-4
17-67023127-G-A p.Asp680Asp synonymous ABCA9 3 82924 3.61777E-5 41462 0 3.98686E-6
17-67023136-A-G p.Asp677Asp synonymous ABCA9 1 82962 1.20537E-5 41481 0 8.24878E-6
17-67023141-T-G p.Ile676Leu missense ABCA9 1 82990 1.20496E-5 41495 0 3.98346E-6
17-67023169-G-A p.Asp666Asp synonymous ABCA9 1 82990 1.20496E-5 41495 0 NA
17-67023170-T-A p.Asp666Val missense ABCA9 4 82980 4.82044E-5 41490 0 NA
17-67023180-CCT-C p.Glu662fs frameshift ABCA9 2 83002 2.40958E-5 41501 0 8.24443E-6
17-67023180-C-G p.Gly663Arg missense ABCA9 2 83002 2.40958E-5 41501 0 8.24443E-6
17-67023203-C-T p.Arg655Gln missense ABCA9 1 83014 1.20462E-5 41507 0 3.18532E-5
17-67023204-G-A p.Arg655* stop_gained ABCA9 4 83008 4.81881E-5 41504 0 3.18532E-5
17-67023236-G-A p.Pro644Leu missense ABCA9 2 82976 2.41034E-5 41488 0 3.1841E-5
17-67023238-T-C p.Glu643Glu synonymous ABCA9 3 82970 3.61576E-5 41485 0 3.1841E-5
17-67023240-CA-C p.Asp642fs frameshift ABCA9 1 82988 1.20499E-5 41494 0 NA
17-67023243-C-T p.Asp642Asn missense ABCA9 1 83002 1.20479E-5 41501 0 7.96838E-6
17-67023247-T-C p.Leu640Leu synonymous ABCA9 1 83012 1.20465E-5 41506 0 8.26037E-6
17-67023255-C-T p.Val638Ile missense+splice_region ABCA9 1 82990 1.20496E-5 41495 0 7.97785E-6
17-67023468-T-G c.1911+3A>C splice_region ABCA9 2 83088 2.40709E-5 41544 0 3.1837E-5
17-67023471-T-C p.Gln637Gln splice_region+synonymous ABCA9 1 83100 1.20337E-5 41550 0 2.00863E-5
17-67023477-A-T p.Asp635Glu missense ABCA9 6 83108 7.21952E-5 41554 0 2.44815E-4
17-67023488-T-C p.Ile632Val missense ABCA9 1 83100 1.20337E-5 41550 0 3.18634E-5
17-67023493-A-G p.Ile630Thr missense ABCA9 1 83106 1.20328E-5 41553 0 NA
17-67023524-C-T p.Gly620Ser missense ABCA9 152 82966 0.00183208 41483 0 0.00187332
17-67023531-G-A p.Asn617Asn synonymous ABCA9 18 82938 2.1703E-4 41469 0 1.50134E-4
17-67023536-G-C p.Gln616Glu missense ABCA9 2 82908 2.41231E-5 41454 0 8.83939E-6
17-67023543-G-A p.Ile613Ile synonymous ABCA9 1 82876 1.20662E-5 41438 0 3.53388E-5
17-67023565-T-G p.Glu606Ala missense ABCA9 1 82746 1.20852E-5 41373 0 NA
17-67023573-C-T p.Gln603Gln synonymous ABCA9 2 82698 2.41844E-5 41349 0 1.20832E-5
17-67023581-C-T p.Val601Ile missense ABCA9 44 82660 5.32301E-4 41330 0 0.0014971
17-67023583-CGTT-C p.Gln599del disruptive_inframe_deletion ABCA9 1 82654 1.20986E-5 41327 0 1.77551E-5
17-67023584-G-A p.Arg600* stop_gained ABCA9 1 82650 1.20992E-5 41325 0 3.18837E-5
17-67023587-G-T p.Gln599Lys missense ABCA9 1 82628 1.21024E-5 41314 0 3.18674E-5
17-67023774-C-T c.1791+7G>A splice_region ABCA9 1 82736 1.20866E-5 41368 0 3.99949E-6
17-67023784-T-C p.Lys596Lys synonymous ABCA9 2 82796 2.41558E-5 41398 0 1.65109E-5
17-67023789-C-G p.Glu595Gln missense ABCA9 1 82798 1.20776E-5 41399 0 NA
17-67023792-C-A p.Val594Leu missense ABCA9 1 82816 1.2075E-5 41408 0 NA
17-67023793-T-C p.Glu593Glu synonymous ABCA9 5 82812 6.03777E-5 41406 0 3.18451E-5
17-67023804-A-C p.Leu590Val missense ABCA9 2 82860 2.41371E-5 41430 0 7.9797E-6
17-67023819-T-C p.Lys585Glu missense ABCA9 1 82878 1.20659E-5 41439 0 5.05051E-4
17-67023859-A-AAAT p.Gln570_Phe571insLeu disruptive_inframe_insertion ABCA9 94 82782 0.00113551 41391 1 0.00235669
17-67023871-G-A p.Ser567Ser synonymous ABCA9 1 82738 1.20863E-5 41369 0 2.79247E-5
17-67023881-C-CA p.Cys564fs frameshift ABCA9 1 82664 1.20972E-5 41332 0 NA
17-67023891-TGAACTTGC-T p.Ser558fs frameshift ABCA9 1 82622 1.21033E-5 41311 0 NA
17-67023911-A-G p.Ile554Thr missense ABCA9 1 82500 1.21212E-5 41250 0 3.9984E-6
17-67023916-A-G p.Ala552Ala synonymous ABCA9 1 82484 1.21236E-5 41242 0 NA
17-67023923-C-T p.Arg550Lys missense ABCA9 2 82444 2.42589E-5 41222 0 NA
17-67023941-T-C p.Tyr544Cys missense ABCA9 1 82362 1.21415E-5 41181 0 NA
17-67023942-A-T p.Tyr544Asn missense ABCA9 12 82336 1.45744E-4 41168 0 3.18431E-4
17-67023952-T-C p.Ser540Ser synonymous ABCA9 1 82260 1.21566E-5 41130 0 4.16393E-5
17-67023961-AAGC-A c.1616-8_1616-6delGCT splice_region ABCA9 1 82208 1.21643E-5 41104 0 NA
17-67024674-A-T c.1615+2T>A splice_donor ABCA9 1 82726 1.20881E-5 41363 0 NA
17-67024685-G-A p.Pro536Ser missense ABCA9 1 82824 1.20738E-5 41412 0 3.18796E-5
17-67024696-C-A p.Gly532Val missense ABCA9 1 82962 1.20537E-5 41481 0 NA
17-67024717-G-A p.Thr525Ile missense ABCA9 1 83178 1.20224E-5 41589 0 NA
17-67024740-AC-A p.Gly517fs frameshift ABCA9 1 83112 1.2032E-5 41556 0 4.00525E-6
17-67024742-C-A p.Gly517Cys missense ABCA9 1 83106 1.20328E-5 41553 0 8.25914E-6
17-67024746-G-A p.Leu515Leu synonymous ABCA9 1 83088 1.20354E-5 41544 0 8.2605E-6
17-67024752-A-C p.Thr513Thr synonymous ABCA9 1 83068 1.20383E-5 41534 0 8.26296E-6
17-67024772-T-C p.Ile507Val missense ABCA9 1 82664 1.20972E-5 41332 0 6.37389E-5
17-67024786-C-T p.Gly502Asp missense+splice_region ABCA9 1 82080 1.21832E-5 41040 0 6.3743E-5
17-67024787-CT-C c.1505-2delA splice_acceptor ABCA9 1 82062 1.21859E-5 41031 0 NA
17-67024791-C-A c.1505-5G>T splice_region ABCA9 1 81632 1.22501E-5 40816 0 NA
17-67024793-T-A c.1505-7A>T splice_region ABCA9 7 81448 8.59444E-5 40724 0 1.66976E-5
17-67024794-G-C c.1505-8C>G splice_region ABCA9 1 81384 1.22874E-5 40692 0 NA
17-67025306-T-C c.1504+4A>G splice_region ABCA9 6 80324 7.46975E-5 40162 0 4.66209E-6
17-67025334-A-G p.Cys494Arg missense ABCA9 1 81446 1.22781E-5 40723 0 4.78164E-4
17-67025335-C-T p.Lys493Lys synonymous ABCA9 1 81438 1.22793E-5 40719 0 1.13155E-5
17-67025338-C-T p.Gly492Gly synonymous ABCA9 1 81424 1.22814E-5 40712 0 1.12775E-5
17-67025343-C-T p.Ala491Thr missense ABCA9 102 81444 0.00125239 40722 0 0.00469229
17-67025349-CTTTTT-C p.Lys487fs frameshift ABCA9 1 81446 1.22781E-5 40723 0 NA
17-67025357-A-C p.Leu486Arg missense ABCA9 3 81352 3.68768E-5 40676 0 2.81406E-4
17-67025371-G-GAAAA c.1446-4_1446-3insTTTT splice_region ABCA9 1 80950 1.23533E-5 40475 0 NA
17-67028252-A-G p.Ile481Thr missense ABCA9 1 83224 1.20158E-5 41612 0 NA
17-67028259-C-T p.Glu479Lys missense ABCA9 1 83230 1.20149E-5 41615 0 4.04256E-6
17-67028260-T-C p.Lys478Lys synonymous ABCA9 48231 80924 0.596004 40462 15422 0.615307
17-67028281-C-T p.Val471Val synonymous ABCA9 1 83216 1.20169E-5 41608 0 NA
17-67028308-A-G p.Pro462Pro synonymous ABCA9 2 83216 2.40338E-5 41608 0 3.98191E-6
17-67028326-A-T p.Asn456Lys missense ABCA9 1 83178 1.20224E-5 41589 0 NA
17-67028329-C-T p.Glu455Glu synonymous ABCA9 3 83176 3.60681E-5 41588 0 NA
17-67028331-C-G p.Glu455Gln missense ABCA9 1 83178 1.20224E-5 41589 0 NA
17-67028338-C-T p.Val452Val synonymous ABCA9 3 83172 3.60698E-5 41586 0 5.17578E-5
17-67028350-C-G p.Arg448Ser missense ABCA9 1 83126 1.20299E-5 41563 0 NA
17-67028351-C-T p.Arg448Lys missense ABCA9 2 83134 2.40575E-5 41567 0 2.47729E-5
17-67028355-C-T p.Gly447Arg missense ABCA9 4 83114 4.81267E-5 41557 0 3.1835E-5
17-67028356-G-A p.His446His synonymous ABCA9 1 83106 1.20328E-5 41553 0 3.1841E-5
17-67028359-T-C p.Gln445Gln synonymous ABCA9 5 83096 6.01714E-5 41548 0 6.25E-4
17-67028367-A-C p.Trp443Gly missense ABCA9 2 83060 2.4079E-5 41530 0 NA
17-67028382-G-A p.Leu438Leu synonymous ABCA9 2 83030 2.40877E-5 41515 0 3.98756E-6
17-67028384-A-G p.Phe437Ser missense ABCA9 1 83042 1.20421E-5 41521 0 NA
17-67028399-C-T p.Cys432Tyr missense ABCA9 1 82988 1.20499E-5 41494 0 0.00125
17-67028400-A-T p.Cys432Ser missense ABCA9 2 82982 2.41016E-5 41491 0 NA
17-67028401-TC-AA p.Arg431Leu missense ABCA9 1 82964 1.20534E-5 41482 0 NA
17-67028421-T-C c.1277-4A>G splice_region ABCA9 12 82856 1.4483E-4 41428 0 6.25E-4
17-67028421-T-G c.1277-4A>C splice_region ABCA9 1 82856 1.20691E-5 41428 0 1.20671E-5
17-67028425-A-G c.1277-8T>C splice_region ABCA9 1 82838 1.20718E-5 41419 0 NA
17-67029866-C-T c.1276+1G>A splice_donor ABCA9 3 83068 3.6115E-5 41534 0 3.18654E-5
17-67029867-C-T p.Ala426Thr missense+splice_region ABCA9 3 83070 3.61141E-5 41535 0 3.18857E-5
17-67029868-G-A p.Pro425Pro splice_region+synonymous ABCA9 6 83072 7.22265E-5 41536 0 9.56023E-5
17-67029872-A-C p.Leu424Trp missense ABCA9 1 83090 1.20351E-5 41545 0 1.66909E-5
17-67029927-A-G p.Leu406Leu synonymous ABCA9 1 83196 1.20198E-5 41598 0 2.47549E-5
17-67029928-C-T p.Met405Ile missense ABCA9 1 83192 1.20204E-5 41596 0 NA
17-67029929-A-G p.Met405Thr missense ABCA9 1 83200 1.20192E-5 41600 0 4.95082E-5
17-67029930-T-C p.Met405Val missense ABCA9 1 83198 1.20195E-5 41599 0 3.18695E-5
17-67029964-T-C p.Ser393Ser synonymous ABCA9 1 83174 1.2023E-5 41587 0 NA
17-67029976-G-A p.His389His synonymous ABCA9 1 83174 1.2023E-5 41587 0 NA
17-67029980-G-A p.Ala388Val missense ABCA9 4 83150 4.81058E-5 41575 0 NA
17-67030000-G-C p.Asp381Glu missense ABCA9 1 83090 1.20351E-5 41545 0 NA
17-67030008-G-GATATTC p.Ile378_His379insGluTyr conservative_inframe_insertion ABCA9 2 83036 2.40859E-5 41518 0 NA
17-67030008-G-A p.His379Tyr missense ABCA9 1 83042 1.20421E-5 41521 0 1.27494E-4
17-67030010-A-G p.Ile378Thr missense ABCA9 3 82996 3.61463E-5 41498 0 8.05494E-5
17-67030019-AAAAG-A c.1129-9_1129-6delCTTT splice_region ABCA9 1 82920 1.20598E-5 41460 0 NA
17-67031384-T-TA c.1128+2_1128+3insT splice_donor ABCA9 1 81972 1.21993E-5 40986 0 NA
17-67031414-G-C p.Pro367Pro synonymous ABCA9 1 82710 1.20904E-5 41355 0 8.35394E-6
17-67031429-C-T p.Leu362Leu synonymous ABCA9 6 83018 7.22735E-5 41509 0 NA
17-67031433-G-A p.Thr361Ile missense ABCA9 1 83016 1.20459E-5 41508 0 3.18756E-5
17-67031456-A-G p.Arg353Arg synonymous ABCA9 2 83002 2.40958E-5 41501 0 NA
17-67031457-C-T p.Arg353His missense ABCA9 74703 82728 0.902995 41364 34007 0.924611
17-67031458-G-A p.Arg353Cys missense ABCA9 1 83066 1.20386E-5 41533 0 NA
17-67031463-T-C p.Tyr351Cys missense ABCA9 1 83082 1.20363E-5 41541 0 NA
17-67031476-A-C p.Phe347Val missense ABCA9 1 83100 1.20337E-5 41550 0 NA
17-67031482-G-A p.Leu345Leu synonymous ABCA9 12 83076 1.44446E-4 41538 0 6.37592E-5
17-67031485-T-TC p.Ile344fs frameshift ABCA9 1 83054 1.20404E-5 41527 0 NA
17-67031492-A-C p.Phe341Leu missense ABCA9 1 83024 1.20447E-5 41512 0 NA
17-67031506-G-T p.Leu337Ile missense ABCA9 1 82970 1.20525E-5 41485 0 NA
17-67031507-A-C p.Phe336Leu missense ABCA9 1 82976 1.20517E-5 41488 0 NA
17-67031514-AC-A p.Val334fs frameshift ABCA9 1 82944 1.20563E-5 41472 0 NA
17-67031522-C-T p.Thr331Thr synonymous ABCA9 5 82802 6.0385E-5 41401 0 2.49265E-5
17-67031523-G-A p.Thr331Met missense ABCA9 17 82784 2.05354E-4 41392 0 0.00100705
17-67031528-G-A p.Phe329Phe synonymous ABCA9 1 82702 1.20916E-5 41351 0 NA
17-67031530-A-C p.Phe329Val missense ABCA9 1 82736 1.20866E-5 41368 0 NA
17-67031533-G-C p.Pro328Ala missense ABCA9 4 82708 4.83629E-5 41354 0 1.00504E-4
17-67031537-C-A p.Lys326Asn missense ABCA9 4 82660 4.8391E-5 41330 0 1.2409E-4
17-67031540-T-C p.Ile325Met missense ABCA9 2 82648 2.4199E-5 41324 0 8.42318E-6
17-67031551-T-C p.Ser322Gly missense ABCA9 21 82422 2.54786E-4 41211 1 2.29674E-4
17-67031572-T-C p.Ile315Val missense+splice_region ABCA9 6 81554 7.35709E-5 40777 0 6.37146E-5
17-67031574-T-C c.943-2A>G splice_acceptor ABCA9 1 81520 1.22669E-5 40760 0 1.73145E-5
17-67031575-G-A c.943-3C>T splice_region ABCA9 1 81510 1.22684E-5 40755 0 3.18634E-5
17-67031576-A-T c.943-4T>A splice_region ABCA9 1 81508 1.22687E-5 40754 0 NA
17-67031799-A-G c.942+2T>C splice_donor ABCA9 68 82910 8.20166E-4 41455 1 7.20179E-4
17-67031802-A-C p.Leu314Trp missense+splice_region ABCA9 1 82936 1.20575E-5 41468 0 NA
17-67031805-G-T p.Ser313Tyr missense ABCA9 1 82956 1.20546E-5 41478 0 NA
17-67031806-A-G p.Ser313Pro missense ABCA9 3 82952 3.61655E-5 41476 0 6.37227E-5
17-67031829-G-A p.Thr305Ile missense ABCA9 9 83032 1.08392E-4 41516 0 5.03525E-4
17-67031831-G-A p.Phe304Phe synonymous ABCA9 2 83048 2.40825E-5 41524 0 6.37959E-5
17-67031834-G-A p.Val303Val synonymous ABCA9 1 83066 1.20386E-5 41533 0 3.18837E-5
17-67031842-C-T p.Val301Met missense ABCA9 1 83060 1.20395E-5 41530 0 NA
17-67031854-G-C p.Leu297Val missense ABCA9 1 83092 1.20349E-5 41546 0 NA
17-67031857-C-T p.Val296Ile missense ABCA9 15 83080 1.80549E-4 41540 0 5.03525E-4
17-67031858-G-T p.Val295Val synonymous ABCA9 2 83088 2.40709E-5 41544 0 3.18634E-5
17-67031865-T-G p.Gln293Pro missense ABCA9 1 83074 1.20375E-5 41537 0 NA
17-67031871-G-T p.Ser291Tyr missense ABCA9 1 83070 1.2038E-5 41535 0 NA
17-67031880-A-G p.Ile288Thr missense ABCA9 306 83046 0.0036847 41523 3 0.00723206
17-67031882-A-G p.Leu287Leu synonymous ABCA9 1147 83034 0.0138136 41517 45 0.0295055
17-67031891-T-C p.Leu284Leu synonymous ABCA9 4 83030 4.81754E-5 41515 0 5.81502E-5
17-67031898-G-T p.Ala282Asp missense ABCA9 1 83016 1.20459E-5 41508 0 8.30993E-6
17-67031917-C-T p.Gly276Ser missense ABCA9 1 83006 1.20473E-5 41503 0 1.19682E-5
17-67031921-A-G p.Tyr274Tyr synonymous ABCA9 1 82988 1.20499E-5 41494 0 8.31712E-6
17-67031925-A-G p.Met273Thr missense ABCA9 11 82954 1.32604E-4 41477 0 5.03525E-4
17-67031927-C-G p.Leu272Phe missense ABCA9 1 82942 1.20566E-5 41471 0 NA
17-67039625-T-C c.800+5A>G splice_region ABCA9 1 81432 1.22802E-5 40716 0 NA
17-67039629-C-T c.800+1G>A splice_donor ABCA9 11 81568 1.34857E-4 40784 0 2.71385E-5
17-67039636-G-A p.Ala265Val missense ABCA9 1 81738 1.22342E-5 40869 0 3.18492E-5
17-67039645-C-T p.Arg262Gln missense ABCA9 2931 81882 0.0357954 40941 196 0.0494551
17-67039648-A-G p.Leu261Pro missense ABCA9 1 82052 1.21874E-5 41026 0 NA
17-67039663-A-G p.Met256Thr missense ABCA9 1 82274 1.21545E-5 41137 0 7.72697E-5
17-67039666-A-G p.Leu255Ser missense ABCA9 2 82316 2.42966E-5 41158 0 4.06488E-6
17-67039667-A-G p.Leu255Leu synonymous ABCA9 1 82322 1.21474E-5 41161 0 1.21807E-5
17-67039671-C-T p.Thr253Thr synonymous ABCA9 91 82316 0.0011055 41158 0 0.00143016
17-67039672-G-A p.Thr253Met missense ABCA9 2 82332 2.42919E-5 41166 0 0.00125
17-67039674-A-G p.Ile252Ile synonymous ABCA9 1 82362 1.21415E-5 41181 0 4.03845E-6
17-67039679-A-G p.Tyr251His missense ABCA9 1 82392 1.21371E-5 41196 0 8.46683E-6
17-67039691-G-A p.Gln247* stop_gained ABCA9 18 82366 2.18537E-4 41183 0 5.04032E-4
17-67039700-T-C p.Asn244Asp missense ABCA9 6 82370 7.28421E-5 41185 0 2.50756E-5
17-67039701-G-A p.Val243Val synonymous ABCA9 11 82366 1.3355E-4 41183 0 NA
17-67039715-A-G p.Tyr239His missense ABCA9 3 82408 3.64042E-5 41204 0 NA
17-67039724-T-G p.Thr236Pro missense ABCA9 1 82448 1.21289E-5 41224 0 4.00708E-6
17-67039732-G-T p.Ser233Tyr missense ABCA9 1 82520 1.21183E-5 41260 0 2.48938E-5
17-67039758-A-C p.Asp224Glu missense ABCA9 1 82666 1.20969E-5 41333 0 3.31214E-5
17-67039776-T-C p.Gln218Gln synonymous ABCA9 3 82722 3.6266E-5 41361 0 1.99518E-5
17-67039794-T-C p.Ile212Met missense ABCA9 2 82778 2.4161E-5 41389 0 1.65931E-5
17-67039796-T-G p.Ile212Leu missense ABCA9 2 82760 2.41663E-5 41380 0 NA
17-67039804-T-C p.His209Arg missense ABCA9 1 82750 1.20846E-5 41375 0 NA
17-67039804-T-G p.His209Pro missense ABCA9 1 82750 1.20846E-5 41375 0 4.01043E-6
17-67039812-A-G p.Thr206Thr synonymous ABCA9 1 82708 1.20907E-5 41354 0 NA
17-67039819-G-T p.Ser204* stop_gained ABCA9 32 82692 3.86978E-4 41346 0 0.00106886
17-67039834-A-C p.Met199Arg missense ABCA9 1 82616 1.21042E-5 41308 0 5.96791E-5
17-67039834-A-T p.Met199Lys missense ABCA9 1 82616 1.21042E-5 41308 0 NA
17-67039853-C-T p.Ala193Thr missense ABCA9 5 82438 6.06516E-5 41219 0 6.09565E-5
17-67039854-G-A p.Ile192Ile splice_region+synonymous ABCA9 4 82456 4.85107E-5 41228 0 6.36902E-5
17-67040638-T-G p.Glu191Asp missense+splice_region ABCA9 2 82430 2.4263E-5 41215 0 8.37395E-6
17-67040640-C-A p.Glu191* stop_gained ABCA9 1 82466 1.21262E-5 41233 0 3.99543E-6
17-67040643-T-C p.Ile190Val missense ABCA9 2 82506 2.42407E-5 41253 0 8.34321E-6
17-67040646-T-C p.Ile189Val missense ABCA9 1 82544 1.21148E-5 41272 0 8.33208E-6
17-67040651-G-A p.Ala187Val missense ABCA9 1 82596 1.21071E-5 41298 0 3.99198E-6
17-67040654-T-G p.Asn186Thr missense ABCA9 7 82606 8.47396E-5 41303 0 8.31961E-6
17-67040660-G-A p.Ala184Val missense ABCA9 4 82634 4.84062E-5 41317 0 6.37064E-5
17-67040672-G-C p.Ala180Gly missense ABCA9 1 82710 1.20904E-5 41355 0 NA
17-67040678-A-C p.Phe178Cys missense ABCA9 3 82736 3.62599E-5 41368 0 3.98998E-6
17-67040704-T-C p.Glu169Glu synonymous ABCA9 1 82738 1.20863E-5 41369 0 8.30689E-6
17-67040704-T-G p.Glu169Asp missense ABCA9 1 82738 1.20863E-5 41369 0 NA
17-67040714-A-AT p.Met166fs frameshift ABCA9 1 82682 1.20945E-5 41341 0 1.66323E-5
17-67040722-A-T p.Asn163Lys missense ABCA9 1 82594 1.21074E-5 41297 0 8.33278E-6
17-67040725-CA-C p.Val162fs frameshift ABCA9 1 82560 1.21124E-5 41280 0 8.35045E-6
17-67040725-C-G p.Val162Val synonymous ABCA9 1 82560 1.21124E-5 41280 0 NA
17-67040745-TAGA-T c.470-7_470-5delTCT splice_region ABCA9 2 82226 2.43232E-5 41113 0 3.18532E-5
17-67041315-G-T p.Ser156* stop_gained ABCA9 1 82240 1.21595E-5 41120 0 NA
17-67041316-A-G p.Ser156Pro missense ABCA9 3 82274 3.64635E-5 41137 0 4.02593E-6
17-67041319-G-C p.His155Asp missense ABCA9 1 82330 1.21462E-5 41165 0 8.38701E-6
17-67041319-G-A p.His155Tyr missense ABCA9 1 82330 1.21462E-5 41165 0 NA
17-67041330-T-C p.Glu151Gly missense ABCA9 1 82500 1.21212E-5 41250 0 6.38203E-5
17-67041332-T-G p.Lys150Asn missense ABCA9 1 82520 1.21183E-5 41260 0 NA
17-67041336-A-G p.Met149Thr missense ABCA9 2 82564 2.42236E-5 41282 0 1.19747E-5
17-67041348-C-T p.Arg145Lys missense ABCA9 1 82642 1.21004E-5 41321 0 1.6581E-5
17-67041351-T-A p.His144Leu missense ABCA9 1 82676 1.20954E-5 41338 0 3.98864E-6
17-67041359-A-G p.Ser141Ser synonymous ABCA9 1 82748 1.20849E-5 41374 0 NA
17-67041360-GA-G p.Ser141fs frameshift ABCA9 1 82766 1.20823E-5 41383 0 3.19264E-5
17-67041366-T-C p.Lys139Arg missense ABCA9 1 82782 1.20799E-5 41391 0 6.37836E-5
17-67041373-G-C p.His137Asp missense ABCA9 1 82810 1.20758E-5 41405 0 2.48082E-5
17-67041383-G-A p.Thr133Thr synonymous ABCA9 197 82820 0.00237865 41410 2 0.00552504
17-67041386-A-G p.Asp132Asp synonymous ABCA9 1 82836 1.2072E-5 41418 0 NA
17-67041393-A-T p.Phe130Tyr missense ABCA9 1 82858 1.20688E-5 41429 0 7.17377E-5
17-67041409-C-T p.Ala125Thr missense ABCA9 2 82828 2.41464E-5 41414 0 8.25873E-6
17-67041409-C-A p.Ala125Ser missense ABCA9 1 82828 1.20732E-5 41414 0 NA
17-67041410-G-A p.Asp124Asp synonymous ABCA9 81 82826 9.77954E-4 41413 0 0.00178708
17-67041410-G-T p.Asp124Glu missense ABCA9 1 82826 1.20735E-5 41413 0 9.57365E-5
17-67041412-C-G p.Asp124His missense ABCA9 1 82838 1.20718E-5 41419 0 NA
17-67041433-A-G p.Leu117Leu synonymous ABCA9 1 82678 1.20951E-5 41339 0 NA
17-67041442-T-C p.Met114Val missense ABCA9 4 82616 4.84168E-5 41308 0 3.99329E-6
17-67041445-T-A p.Ser113Cys missense ABCA9 3 82604 3.63179E-5 41302 0 2.47803E-5
17-67041461-C-G p.Gly107Gly synonymous ABCA9 1 82448 1.21289E-5 41224 0 NA
17-67041466-T-A p.Met106Leu missense ABCA9 2 82392 2.42742E-5 41196 0 NA
17-67041467-G-T p.Ile105Ile synonymous ABCA9 1 82382 1.21386E-5 41191 0 NA
17-67041475-T-C p.Arg103Gly missense+splice_region ABCA9 1 82158 1.21717E-5 41079 0 NA
17-67041480-G-T c.305-3C>A splice_region ABCA9 2 82012 2.43867E-5 41006 0 NA
17-67041482-C-CA c.305-6_305-5insT splice_region ABCA9 1 81998 1.21954E-5 40999 0 NA
17-67041483-A-G c.305-6T>C splice_region ABCA9 4 82000 4.87805E-5 41000 0 NA
17-67045424-C-A p.Gly102* stop_gained ABCA9 4 82738 4.83454E-5 41369 0 2.49393E-5
17-67045437-G-T p.Ala97Ala synonymous ABCA9 1 82902 1.20624E-5 41451 0 NA
17-67045445-C-A p.Ala95Ser missense ABCA9 6 82958 7.23258E-5 41479 0 7.43974E-5
17-67045452-G-T p.Asn92Lys missense ABCA9 811 82990 0.00977226 41495 11 0.0181269
17-67045452-G-A p.Asn92Asn synonymous ABCA9 1 82998 1.20485E-5 41499 0 3.18695E-5
17-67045463-C-G p.Glu89Gln missense ABCA9 1 83034 1.20433E-5 41517 0 NA
17-67045488-A-G p.Phe80Phe synonymous ABCA9 2 83044 2.40836E-5 41522 0 4.12732E-5
17-67045495-A-G p.Ile78Thr missense ABCA9 2 83062 2.40784E-5 41531 0 3.18471E-5
17-67045496-T-C p.Ile78Val missense ABCA9 1 83064 1.20389E-5 41532 0 3.98387E-6
17-67045509-A-G p.Asp73Asp synonymous ABCA9 3 83044 3.61254E-5 41522 0 2.47647E-5
17-67045511-C-A p.Asp73Tyr missense ABCA9 1 83040 1.20424E-5 41520 0 NA
17-67045517-A-G p.Phe71Leu missense ABCA9 1 83028 1.20441E-5 41514 0 NA
17-67045529-G-C p.Arg67Gly missense ABCA9 71 83012 8.55298E-4 41506 0 6.93387E-4
17-67045529-G-A p.Arg67Cys missense ABCA9 6 83012 7.22787E-5 41506 0 3.18878E-5
17-67045532-C-A p.Gly66* stop_gained ABCA9 2 83002 2.40958E-5 41501 0 NA
17-67045538-C-G p.Asp64His missense ABCA9 1 82984 1.20505E-5 41492 0 NA
17-67045539-C-T p.Met63Ile missense ABCA9 2 82984 2.4101E-5 41492 0 2.78987E-5
17-67045541-T-C p.Met63Val missense ABCA9 14 82984 1.68707E-4 41492 0 7.43102E-5
17-67045558-G-A p.Thr57Ile missense ABCA9 1 82988 1.20499E-5 41494 0 NA
17-67045568-C-T p.Val54Ile missense ABCA9 1 82978 1.20514E-5 41489 0 6.37389E-5
17-67045574-G-A p.His52Tyr missense ABCA9 3 82960 3.6162E-5 41480 0 6.37349E-5
17-67045575-T-C p.Leu51Leu synonymous ABCA9 1 82954 1.20549E-5 41477 0 NA
17-67045575-T-A p.Leu51Phe missense ABCA9 1 82954 1.20549E-5 41477 0 6.37928E-5
17-67045579-T-G p.Asn50Thr missense ABCA9 1 82940 1.20569E-5 41470 0 NA
17-67045603-A-G p.Leu42Pro missense ABCA9 1 82760 1.20831E-5 41380 0 1.66061E-5
17-67045637-T-C c.97-6A>G splice_region ABCA9 1 81932 1.22052E-5 40966 0 1.7043E-5
17-67047165-A-T c.96+7T>A splice_region ABCA9 2 82480 2.42483E-5 41240 0 1.59775E-5
17-67047168-A-G c.96+4T>C splice_region ABCA9 1 82520 1.21183E-5 41260 0 3.99275E-6
17-67047178-G-A p.Thr30Thr synonymous ABCA9 3 82660 3.62932E-5 41330 0 8.3492E-6
17-67047198-A-AT p.Trp24fs frameshift ABCA9 1 82816 1.2075E-5 41408 0 NA
17-67047203-T-C p.Lys22Arg missense ABCA9 1 82818 1.20747E-5 41409 0 NA
17-67047207-G-C p.Leu21Val missense ABCA9 2 82820 2.41488E-5 41410 0 NA
17-67047221-A-C p.Leu16Arg missense ABCA9 1 82800 1.20773E-5 41400 0 NA
17-67047225-G-A p.Leu15Phe missense ABCA9 4 82794 4.83127E-5 41397 0 NA
17-67047228-C-T p.Ala14Thr missense ABCA9 1 82784 1.20796E-5 41392 0 3.98721E-6
17-67047228-C-A p.Ala14Ser missense ABCA9 1 82784 1.20796E-5 41392 0 1.59488E-5
17-67047236-T-C p.Gln11Arg missense ABCA9 1 82760 1.20831E-5 41380 0 NA
17-67047243-C-T p.Gly9Ser missense ABCA9 1 82676 1.20954E-5 41338 0 3.18715E-5
17-67047247-G-A p.Ser7Ser synonymous ABCA9 2 82632 2.42037E-5 41316 0 2.79265E-5
17-67047250-C-T p.Met6Ile missense ABCA9 1 82622 1.21033E-5 41311 0 5.03525E-4
17-67047255-G-A p.Arg5Cys missense ABCA9 1 82564 1.21118E-5 41282 0 9.18208E-5
17-67047257-C-T p.Arg4Lys missense ABCA9 1 82548 1.21142E-5 41274 0 NA
17-67047259-C-G p.Lys3Asn missense ABCA9 1 82536 1.21159E-5 41268 0 2.49323E-5
17-67047287-A-T c.-13-7T>A splice_region ABCA9 1 82096 1.21809E-5 41048 0 NA
17-67057015-A-C c.-22T>G 5_prime_UTR_premature_start_codon_gain ABCA9 1 27196 3.67701E-5 13598 0 NA