Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-17414536-G-A c.*435C>T splice_region ABCC8 4 83014 4.81846E-5 41507 0 NA
11-17414551-C-T p.Arg1579His missense ABCC8 5 83040 6.02119E-5 41520 0 6.37024E-5
11-17414552-G-A p.Arg1579Cys missense ABCC8 1 83046 1.20415E-5 41523 0 3.18492E-5
11-17414556-G-A p.Phe1577Phe synonymous ABCC8 478 83064 0.0057546 41532 10 0.0111429
11-17414564-C-T p.Ala1575Thr missense ABCC8 1 83098 1.2034E-5 41549 0 6.36862E-5
11-17414565-G-A p.Phe1574Phe synonymous ABCC8 3 83110 3.60967E-5 41555 0 1.48449E-4
11-17414570-C-T p.Val1573Ile missense ABCC8 5675 83008 0.0683669 41504 244 0.0881168
11-17414581-C-T p.Arg1569Gln missense ABCC8 13 83126 1.56389E-4 41563 0 0.00100705
11-17414582-G-A p.Arg1569Trp missense ABCC8 1 83116 1.20314E-5 41558 0 3.97807E-6
11-17414586-G-A p.Leu1567Leu synonymous ABCC8 1 83120 1.20308E-5 41560 0 NA
11-17414594-T-C p.Lys1565Glu missense ABCC8 1 83108 1.20325E-5 41554 0 2.3071E-4
11-17414607-G-A p.Phe1560Phe synonymous ABCC8 2 83066 2.40772E-5 41533 0 1.59137E-5
11-17414610-C-T p.Glu1559Glu synonymous ABCC8 2 83074 2.40749E-5 41537 0 NA
11-17414620-G-A p.Ala1556Val missense ABCC8 1 83032 1.20435E-5 41516 0 NA
11-17414627-G-A p.Arg1554Trp missense ABCC8 2 83032 2.40871E-5 41516 0 6.37592E-5
11-17414628-C-T p.Lys1553Lys synonymous ABCC8 40 83024 4.81788E-4 41512 0 0.00151057
11-17414631-C-T p.Leu1552Leu synonymous ABCC8 1 83016 1.20459E-5 41508 0 8.2616E-6
11-17414637-G-A p.Ile1550Ile synonymous ABCC8 1 82908 1.20616E-5 41454 0 6.37349E-5
11-17414656-A-G p.Leu1544Pro missense ABCC8 4 82690 4.83734E-5 41345 0 1.65618E-5
11-17414669-C-T p.Val1540Met missense ABCC8 1 82304 1.21501E-5 41152 0 NA
11-17414757-C-T n.506G>A splice_region ABCC8 14010 71784 0.195169 35892 973 0.22584
11-17414758-G-A n.505C>T splice_region ABCC8 1 74792 1.33704E-5 37396 0 NA
11-17414762-T-C n.504-3A>G splice_region ABCC8 1 74106 1.34942E-5 37053 0 NA
11-17415236-C-A c.4611+8G>T splice_region ABCC8 2 82632 2.42037E-5 41316 0 NA
11-17415247-G-A p.Ile1536Ile synonymous ABCC8 1 82654 1.20986E-5 41327 0 1.64756E-5
11-17415249-T-A p.Ile1536Phe missense ABCC8 2 82668 2.41932E-5 41334 0 3.97845E-6
11-17415249-T-C p.Ile1536Val missense ABCC8 1 82668 1.20966E-5 41334 0 NA
11-17415259-A-G p.Thr1532Thr synonymous ABCC8 1 82654 1.20986E-5 41327 0 NA
11-17415264-G-A p.Arg1531Cys missense ABCC8 1 82644 1.21001E-5 41322 0 8.23764E-6
11-17415270-C-T p.Ala1529Thr missense ABCC8 1 82634 1.21016E-5 41317 0 3.1835E-5
11-17415271-G-A p.Phe1528Phe synonymous ABCC8 4 82634 4.84062E-5 41317 0 1.07089E-4
11-17415280-C-G p.Met1525Ile missense ABCC8 1 82636 1.21013E-5 41318 0 NA
11-17415289-C-A p.Lys1522Asn missense ABCC8 57 82598 6.90089E-4 41299 1 0.00151057
11-17415309-G-A c.4549-3C>T splice_region ABCC8 2 82552 2.42272E-5 41276 0 NA
11-17415310-C-T c.4549-4G>A splice_region ABCC8 1 82538 1.21156E-5 41269 0 8.35907E-5
11-17415807-A-T c.4548+6T>A splice_region ABCC8 1 83022 1.2045E-5 41511 0 NA
11-17415813-C-T p.Thr1516Thr splice_region+synonymous ABCC8 2 83062 2.40784E-5 41531 0 4.16583E-5
11-17415816-G-T p.Ala1515Ala synonymous ABCC8 203 83096 0.00244296 41548 0 0.00461666
11-17415819-C-A p.Met1514Ile missense ABCC8 1 83108 1.20325E-5 41554 0 NA
11-17415834-C-T p.Thr1509Thr synonymous ABCC8 2 83142 2.40552E-5 41571 0 3.31862E-5
11-17415835-G-A p.Thr1509Met missense ABCC8 3 83144 3.6082E-5 41572 0 6.37024E-5
11-17415836-T-G p.Thr1509Pro missense ABCC8 2 82676 2.41908E-5 41338 0 0.0191395
11-17415843-G-A p.Asp1506Asp synonymous ABCC8 1 83136 1.20285E-5 41568 0 5.03525E-4
11-17415870-C-T p.Val1497Val synonymous ABCC8 1 83162 1.20247E-5 41581 0 NA
11-17415872-C-T p.Val1497Met missense ABCC8 1 83156 1.20256E-5 41578 0 1.65311E-5
11-17415873-G-A p.Phe1496Phe synonymous ABCC8 3 83164 3.60733E-5 41582 0 2.4793E-5
11-17415876-G-A p.Ala1495Ala synonymous ABCC8 3 83172 3.60698E-5 41586 0 4.04898E-4
11-17415894-C-T p.Leu1489Leu synonymous ABCC8 5 83178 6.0112E-5 41589 0 1.27421E-4
11-17415909-C-A p.Gln1484His missense ABCC8 1 83258 1.20109E-5 41629 0 NA
11-17415924-C-T p.Gly1479Gly synonymous ABCC8 1 83268 1.20094E-5 41634 0 NA
11-17415927-G-A p.Gly1478Gly synonymous ABCC8 10 83256 1.20111E-4 41628 0 1.74982E-4
11-17415931-T-C p.Glu1477Gly missense ABCC8 1 83262 1.20103E-5 41631 0 NA
11-17415935-T-A p.Thr1476Ser missense ABCC8 1 83268 1.20094E-5 41634 0 NA
11-17415947-C-T c.4415-1G>A splice_acceptor ABCC8 2 83240 2.40269E-5 41620 0 NA
11-17415950-A-C c.4415-4T>G splice_region ABCC8 1 83222 1.20161E-5 41611 0 1.98864E-5
11-17415953-A-T c.4415-7T>A splice_region ABCC8 2 83206 2.40367E-5 41603 0 8.25777E-6
11-17416719-C-T p.Asp1472Asn missense+splice_region ABCC8 1 80024 1.24963E-5 40012 0 0.00303951
11-17416720-G-A p.Leu1471Leu splice_region+synonymous ABCC8 2 80096 2.497E-5 40048 0 6.37064E-5
11-17416748-A-C p.Leu1462Arg missense ABCC8 1 81416 1.22826E-5 40708 0 9.30769E-6
11-17416754-A-C p.Leu1460Arg missense ABCC8 1 81534 1.22648E-5 40767 0 NA
11-17416762-G-A p.Ile1457Ile synonymous ABCC8 4 81674 4.89752E-5 40837 0 6.25E-4
11-17416770-G-A p.Leu1455Leu synonymous ABCC8 3 81742 3.67008E-5 40871 0 1.54253E-4
11-17416771-G-A p.Ala1454Ala synonymous ABCC8 1 81754 1.22318E-5 40877 0 6.37267E-5
11-17416780-C-T p.Leu1451Leu synonymous ABCC8 3 81790 3.66793E-5 40895 0 2.12152E-5
11-17416798-C-T p.Lys1445Lys synonymous ABCC8 1 81826 1.22211E-5 40913 0 4.51724E-6
11-17416804-C-G p.Glu1443Asp missense ABCC8 1 81798 1.22252E-5 40899 0 4.58413E-6
11-17416816-G-A p.Asn1439Asn synonymous ABCC8 1 81616 1.22525E-5 40808 0 2.3822E-5
11-17416822-T-C p.Ile32Val missense+splice_region ABCC8 1 81562 1.22606E-5 40781 0 1.50553E-5
11-17416824-T-C c.4311-2A>G splice_acceptor ABCC8 1 81538 1.22642E-5 40769 0 1.52858E-5
11-17416830-T-C c.4311-8A>G splice_region ABCC8 2 81370 2.45791E-5 40685 0 NA
11-17416980-C-A p.Trp60Cys missense ABCC8 1 58844 1.69941E-5 29422 0 5.21676E-5
11-17416980-C-T p.Trp60* stop_gained ABCC8 1 58844 1.69941E-5 29422 0 NA
11-17416988-G-A p.His58Tyr missense ABCC8 1 57708 1.73286E-5 28854 0 NA
11-17416991-G-A p.Pro57Ser missense ABCC8 4 57380 6.97107E-5 28690 0 2.16076E-4
11-17416992-G-GA p.His58fs frameshift ABCC8 1 57364 1.74325E-5 28682 0 NA
11-17417007-G-T p.Ser51Arg missense ABCC8 1 56528 1.76903E-5 28264 0 NA
11-17417016-G-A p.Gly48Gly splice_region+synonymous ABCC8 2 56742 3.52473E-5 28371 0 3.18695E-5
11-17417017-C-T p.Gly48Asp missense+splice_region ABCC8 1 56772 1.76143E-5 28386 0 NA
11-17417158-G-A p.Arg1437* stop_gained ABCC8 1 79706 1.25461E-5 39853 0 0.00104384
11-17417166-C-T p.Gly1434Asp missense ABCC8 1 80128 1.248E-5 40064 0 NA
11-17417168-G-A p.Arg28Trp missense ABCC8 1 80262 1.24592E-5 40131 0 8.73352E-5
11-17417170-T-A p.Ser1433Cys missense ABCC8 1 80426 1.24338E-5 40213 0 6.17528E-6
11-17417174-G-T p.Leu26Ile missense ABCC8 1 80626 1.24029E-5 40313 0 NA
11-17417179-C-A p.Val1430Phe missense ABCC8 2 80690 2.47862E-5 40345 0 NA
11-17417180-G-A p.Arg24Cys missense ABCC8 1 80738 1.23857E-5 40369 0 9.55779E-5
11-17417183-G-A p.Pro23Ser missense+splice_region ABCC8 1 80842 1.23698E-5 40421 0 NA
11-17417189-C-A p.Cys37Phe missense ABCC8 1 80942 1.23545E-5 40471 0 NA
11-17417211-C-T p.Arg1419His missense ABCC8 1 81236 1.23098E-5 40618 0 NA
11-17417225-C-A p.Arg25Leu missense ABCC8 8 81360 9.83284E-5 40680 0 6.37227E-5
11-17417225-C-T p.Arg25His missense ABCC8 2 81360 2.45821E-5 40680 0 8.58664E-5
11-17417237-G-A p.Ser21Leu missense ABCC8 8 81444 9.8227E-5 40722 0 9.55718E-5
11-17417244-A-G p.Ile1408Thr missense ABCC8 1 81494 1.22708E-5 40747 0 4.41306E-5
11-17417399-C-T p.Gly1401Arg missense+splice_region ABCC8 1 81784 1.22273E-5 40892 0 3.18695E-5
11-17417403-G-A p.Ser10Leu missense ABCC8 2 81792 2.44523E-5 40896 0 1.3054E-4
11-17417406-C-T p.Arg9His missense ABCC8 2 81784 2.44547E-5 40892 0 3.18878E-5
11-17417407-G-A p.Thr1398Met missense ABCC8 1 81788 1.22267E-5 40894 0 3.18674E-5
11-17417419-C-T p.Arg1394His missense ABCC8 4 81760 4.89237E-5 40880 0 0.0035497
11-17417420-G-A p.Arg1394Cys missense ABCC8 1 81776 1.22285E-5 40888 0 NA
11-17417434-GAGA-G p.Phe1388del disruptive_inframe_deletion ABCC8 8 81780 9.78234E-5 40890 0 3.18532E-5
11-17417466-G-A p.Cys1378Cys synonymous ABCC8 1 81636 1.22495E-5 40818 0 1.35523E-4
11-17417475-G-T p.Ile1375Ile splice_region+synonymous ABCC8 2 81548 2.45254E-5 40774 0 NA
11-17418360-C-T c.*1244G>A splice_region ABCC8 2 70724 2.82789E-5 35362 0 NA
11-17418455-G-T c.4122+8C>A splice_region ABCC8 1 81452 1.22772E-5 40726 0 NA
11-17418466-C-T p.Gln1373Gln synonymous ABCC8 1 81670 1.22444E-5 40835 0 1.98689E-4
11-17418476-GC-AA p.Ala1370Phe missense ABCC8 1 81758 1.22312E-5 40879 0 NA
11-17418477-C-A p.Ala1370Ser missense ABCC8 53826 79798 0.674528 39899 18504 0.726083
11-17418485-G-A p.Ala1367Val missense ABCC8 1 81882 1.22127E-5 40941 0 8.24144E-6
11-17418492-C-T p.Val1365Ile missense ABCC8 31 81882 3.78594E-4 40941 0 5.03525E-4
11-17418493-G-A p.His1364His synonymous ABCC8 1 81892 1.22112E-5 40946 0 NA
11-17418505-C-T p.Pro1360Pro synonymous ABCC8 2 81912 2.44164E-5 40956 0 4.12011E-5
11-17418523-G-A p.Tyr1354Tyr synonymous ABCC8 11 81934 1.34254E-4 40967 0 6.37227E-5
11-17418527-C-T p.Arg1353His missense ABCC8 3 81894 3.66327E-5 40947 0 1.98848E-5
11-17418528-G-A p.Arg1353Cys missense ABCC8 1 81872 1.22142E-5 40936 0 NA
11-17418531-C-T p.Val1352Met missense ABCC8 2 81876 2.44272E-5 40938 0 8.23832E-6
11-17418554-T-A p.Lys1344Met missense ABCC8 1 81844 1.22184E-5 40922 0 NA
11-17418562-G-C p.Asp1341Glu missense ABCC8 1 81782 1.22276E-5 40891 0 1.64756E-5
11-17418574-C-G p.Lys1337Asn missense ABCC8 3 81600 3.67647E-5 40800 0 3.29506E-5
11-17418580-G-T p.Ile1335Ile synonymous ABCC8 1 81528 1.22657E-5 40764 0 NA
11-17418585-G-A p.Leu1334Leu synonymous ABCC8 1 81408 1.22838E-5 40704 0 NA
11-17418586-C-T p.Ser1333Ser synonymous ABCC8 2 81340 2.45881E-5 40670 0 4.94275E-5
11-17418593-G-C p.Ala1331Gly missense+splice_region ABCC8 1 81302 1.22998E-5 40651 0 NA
11-17418595-T-C c.3992-2A>G splice_acceptor ABCC8 1 81260 1.23062E-5 40630 0 8.23832E-6
11-17418602-C-T p.Arg154Gln missense ABCC8 58 81044 7.15661E-4 40522 0 3.26166E-4
11-17418603-G-A p.Arg154Trp missense+splice_region ABCC8 8 81036 9.87216E-5 40518 0 6.25E-4
11-17418744-G-A p.Leu1329Leu synonymous ABCC8 4 81922 4.88269E-5 40961 0 2.232E-4
11-17418752-C-T p.Glu1327Lys missense ABCC8 2 82044 2.43772E-5 41022 0 1.59341E-4
11-17418753-G-A p.Tyr1326Tyr synonymous ABCC8 83 81976 0.00101249 40988 0 0.00127535
11-17418761-C-A p.Glu1324* stop_gained ABCC8 1 82230 1.2161E-5 41115 0 NA
11-17418767-C-T p.Glu1322Lys missense ABCC8 1 82268 1.21554E-5 41134 0 NA
11-17418777-G-C p.Leu1318Leu synonymous ABCC8 7 82400 8.49515E-5 41200 0 6.25782E-4
11-17418790-C-T p.Arg1314His missense ABCC8 3 82406 3.64051E-5 41203 0 6.37186E-5
11-17418791-G-A p.Arg1314Cys missense ABCC8 2 82360 2.42836E-5 41180 0 8.26091E-6
11-17418800-C-T p.Ala1311Thr missense ABCC8 1 82420 1.2133E-5 41210 0 NA
11-17418810-G-C p.Leu1307Leu synonymous ABCC8 3 82336 3.64361E-5 41168 0 1.81935E-4
11-17418817-A-G p.Met1305Thr missense ABCC8 1 82340 1.21448E-5 41170 0 8.27527E-6
11-17418834-C-T p.Val1299Val synonymous ABCC8 1 82210 1.2164E-5 41105 0 8.28995E-6
11-17418849-G-A p.Tyr1294Tyr synonymous ABCC8 1 81828 1.22208E-5 40914 0 NA
11-17418851-A-C p.Tyr1294Asp missense ABCC8 3 81748 3.66981E-5 40874 0 3.32281E-5
11-17418853-T-C p.Asn1293Ser missense ABCC8 1 81660 1.22459E-5 40830 0 8.30937E-6
11-17419224-C-T c.3870+7G>A splice_region ABCC8 28 75620 3.70272E-4 37810 0 3.40857E-4
11-17419225-G-A c.3870+6C>T splice_region ABCC8 1 75694 1.32111E-5 37847 0 1.21695E-5
11-17419239-C-T p.Ala1288Thr missense ABCC8 2 77336 2.58612E-5 38668 0 3.40907E-5
11-17419240-G-A p.Tyr1287Tyr synonymous ABCC8 3 77490 3.87147E-5 38745 0 6.37511E-5
11-17419243-G-A p.Thr1286Thr synonymous ABCC8 1 77886 1.28393E-5 38943 0 2.54138E-5
11-17419259-A-G p.Val1281Ala missense ABCC8 1 78808 1.26891E-5 39404 0 NA
11-17419264-G-A p.Gly1279Gly synonymous ABCC8 2 78940 2.53357E-5 39470 0 3.18756E-5
11-17419273-G-GAGCTCCCTGTGC p.Leu1276_Ser1277insHisArgGluLeu disruptive_inframe_insertion ABCC8 1 79156 1.26333E-5 39578 0 NA
11-17419275-G-A p.Leu1276Phe missense ABCC8 2 79162 2.52646E-5 39581 0 8.32695E-6
11-17419279-C-T p.Arg1274Arg synonymous ABCC8 26187 78170 0.335001 39085 5246 0.416918
11-17419286-A-G p.Leu1272Pro missense ABCC8 1 79402 1.25941E-5 39701 0 1.59627E-5
11-17419286-A-C p.Leu1272Arg missense ABCC8 2 79402 2.51883E-5 39701 0 8.29545E-6
11-17419309-C-T p.Arg52Gln missense ABCC8 1 78824 1.26865E-5 39412 0 3.59155E-5
11-17419315-G-C p.Ile1262Met missense ABCC8 1 78484 1.27415E-5 39242 0 NA
11-17419317-T-C p.Ile1262Val missense ABCC8 2 78460 2.54907E-5 39230 0 NA
11-17419323-C-T p.Trp47* stop_gained ABCC8 13 78088 1.66479E-4 39044 0 0.00151057
11-17419325-A-G p.Val1259Ala missense ABCC8 1 77856 1.28442E-5 38928 0 NA
11-17419335-C-T p.Gly1256Ser missense ABCC8 1 76646 1.3047E-5 38323 0 NA
11-17419336-G-A p.Ser43Leu missense ABCC8 4 76582 5.22316E-5 38291 0 3.1902E-5
11-17419339-G-A p.Thr42Ile missense ABCC8 1 76244 1.31158E-5 38122 0 NA
11-17419347-G-A c.3757-3C>T splice_region ABCC8 1 74824 1.33647E-5 37412 0 3.18898E-5
11-17419884-G-A c.3756+2C>T splice_donor ABCC8 1 83310 1.20034E-5 41655 0 8.27719E-6
11-17419901-C-A p.Trp1247Cys missense ABCC8 1 83348 1.19979E-5 41674 0 NA
11-17419954-A-G p.Tyr1230His missense ABCC8 1 83364 1.19956E-5 41682 0 3.97678E-6
11-17419957-C-T p.Glu1229Lys missense ABCC8 1 83356 1.19967E-5 41678 0 6.60197E-5
11-17419958-G-C p.Ser16Trp missense ABCC8 2 83362 2.39917E-5 41681 0 NA
11-17419977-C-G p.Arg1222Pro missense ABCC8 1 83334 1.19999E-5 41667 0 NA
11-17419981-C-T p.Ala1221Thr missense ABCC8 3 83312 3.60092E-5 41656 0 3.97747E-6
11-17419994-G-C c.3654-6C>G splice_region ABCC8 2 83254 2.40229E-5 41627 0 8.3783E-6
11-17424200-A-ACT c.3653+7_3653+8insAG splice_region ABCC8 3 83276 3.60248E-5 41638 0 3.97655E-6
11-17424203-C-T c.3653+5G>A splice_region ABCC8 1 83294 1.20057E-5 41647 0 7.95292E-6
11-17424204-G-C c.3653+4C>G splice_region ABCC8 12 83288 1.44078E-4 41644 0 0.001875
11-17424204-G-A c.3653+4C>T splice_region ABCC8 1 83288 1.20065E-5 41644 0 1.15312E-4
11-17424217-C-T p.Arg1215Gln missense ABCC8 1 83298 1.20051E-5 41649 0 2.47097E-5
11-17424218-G-A p.Arg1215Trp missense ABCC8 3 83286 3.60205E-5 41643 0 6.58913E-5
11-17424225-G-T p.Thr1212Thr synonymous ABCC8 1 83308 1.20036E-5 41654 0 3.1839E-5
11-17424245-C-T p.Glu1206Lys missense ABCC8 3 83262 3.60308E-5 41631 0 3.5787E-5
11-17424246-G-A p.Ala1205Ala synonymous ABCC8 965 83238 0.0115933 41619 49 0.020208
11-17424252-G-A p.His1203His synonymous ABCC8 1 83256 1.20111E-5 41628 0 3.9764E-6
11-17424255-T-C p.Ser1202Ser synonymous ABCC8 1 83240 1.20135E-5 41620 0 4.11828E-5
11-17424256-GAGAGA-G p.Leu1201fs frameshift ABCC8 1 83236 1.2014E-5 41618 0 NA
11-17424266-G-A p.Pro1199Ser missense ABCC8 2 83196 2.40396E-5 41598 1 NA
11-17424280-T-A p.Asp1194Val missense ABCC8 7 83088 8.4248E-5 41544 0 9.56023E-5
11-17424306-G-A c.3561-6C>T splice_region ABCC8 1 82556 1.2113E-5 41278 0 NA
11-17424307-C-T c.3561-7G>A splice_region ABCC8 2 82520 2.42365E-5 41260 0 6.37308E-5
11-17424308-G-A c.3561-8C>T splice_region ABCC8 9 82466 1.09136E-4 41233 0 4.94421E-4
11-17426052-C-T c.3560+7G>A splice_region ABCC8 1 82872 1.20668E-5 41436 0 NA
11-17426053-C-T c.3560+6G>A splice_region ABCC8 1 82906 1.20619E-5 41453 0 3.97921E-6
11-17426058-C-T c.3560+1G>A splice_donor ABCC8 1 82924 1.20592E-5 41462 0 NA
11-17426064-C-T p.Ala1185Ala synonymous ABCC8 5 82972 6.02613E-5 41486 0 3.29913E-5
11-17426065-G-A p.Ala1185Val missense ABCC8 1 82958 1.20543E-5 41479 0 NA
11-17426072-G-A p.Arg1183Trp missense ABCC8 1 83006 1.20473E-5 41503 0 NA
11-17426079-C-T p.Lys1180Lys synonymous ABCC8 3 83036 3.61289E-5 41518 0 1.19332E-5
11-17426095-C-T p.Cys1175Tyr missense ABCC8 1 83034 1.20433E-5 41517 0 8.24769E-6
11-17426100-G-A p.Ile1173Ile synonymous ABCC8 6 82996 7.22926E-5 41498 0 9.56145E-5
11-17426105-C-T p.Ala1172Thr missense ABCC8 1 82952 1.20552E-5 41476 0 8.25028E-6
11-17426111-G-A p.Pro1170Ser missense ABCC8 1 82986 1.20502E-5 41493 0 NA
11-17426117-G-C p.Leu1168Val missense ABCC8 2 82996 2.40975E-5 41498 0 8.26474E-6
11-17426123-C-T p.Val1166Met missense ABCC8 2 82968 2.41057E-5 41484 0 1.15838E-4
11-17426124-G-A p.Leu1165Leu synonymous ABCC8 1 82974 1.2052E-5 41487 0 6.37877E-5
11-17426135-G-A p.Pro1162Ser missense ABCC8 1 82920 1.20598E-5 41460 0 NA
11-17426151-G-C p.Val1156Val synonymous ABCC8 8 82834 9.65787E-5 41417 0 6.83936E-5
11-17426153-C-T p.Val1156Ile missense ABCC8 2 82802 2.4154E-5 41401 0 9.56755E-5
11-17426154-G-A p.Ala1155Ala synonymous ABCC8 3 82798 3.62328E-5 41399 0 3.18878E-5
11-17426155-G-C p.Ala1155Gly missense ABCC8 3 82772 3.62441E-5 41386 0 NA
11-17426156-C-T p.Ala1155Thr missense ABCC8 1 82776 1.20808E-5 41388 0 1.72873E-5
11-17426159-G-T p.Leu1154Met missense ABCC8 2 82778 2.4161E-5 41389 0 3.18735E-5
11-17426177-G-A p.Leu1148Leu synonymous ABCC8 3 82714 3.62696E-5 41357 0 9.4697E-5
11-17426181-G-A p.Ser1146Ser synonymous ABCC8 13 82692 1.5721E-4 41346 0 0.003125
11-17426194-C-T p.Cys1142Tyr missense ABCC8 1 82540 1.21153E-5 41270 0 NA
11-17426202-C-T p.Thr1139Thr synonymous ABCC8 1 82456 1.21277E-5 41228 0 5.64857E-5
11-17426203-G-A p.Thr1139Met missense ABCC8 10 82484 1.21236E-4 41242 0 3.41297E-5
11-17426204-T-TG p.Thr1139fs frameshift ABCC8 1 82474 1.2125E-5 41237 0 NA
11-17426222-G-A c.3403-6C>T splice_region ABCC8 1 82336 1.21454E-5 41168 0 1.39373E-5
11-17427046-C-T p.Asp1133Asn missense ABCC8 1 83364 1.19956E-5 41682 0 0.00100705
11-17427047-G-C p.Ile1132Met missense ABCC8 1 83366 1.19953E-5 41683 0 NA
11-17427052-T-G p.Thr1131Pro missense ABCC8 1 83364 1.19956E-5 41682 0 NA
11-17427054-T-C p.Asn1130Ser missense ABCC8 1 83370 1.19947E-5 41685 0 NA
11-17427061-C-T p.Asp1128Asn missense ABCC8 1 83364 1.19956E-5 41682 0 NA
11-17427064-A-T p.Ser1127Thr missense ABCC8 1 83360 1.19962E-5 41680 0 NA
11-17427072-C-G p.Arg1124Thr missense ABCC8 1 83356 1.19967E-5 41678 0 NA
11-17427087-C-T p.Gly1119Glu missense ABCC8 1 83326 1.20011E-5 41663 0 NA
11-17427095-C-T p.Thr1116Thr synonymous ABCC8 14 83296 1.68075E-4 41648 0 3.50698E-4
11-17427103-C-CAA p.Glu1114fs frameshift ABCC8 1 83268 1.20094E-5 41634 0 NA
11-17428161-A-G c.3332+8T>C splice_region ABCC8 1 82774 1.20811E-5 41387 0 3.18756E-5
11-17428162-C-T c.3332+7G>A splice_region ABCC8 1 82800 1.20773E-5 41400 0 1.27551E-4
11-17428163-G-A c.3332+6C>T splice_region ABCC8 1028 82748 0.0124233 41374 10 0.0133291
11-17428190-C-T p.Arg1104Gln missense ABCC8 5 83002 6.02395E-5 41501 0 3.58663E-5
11-17428190-C-A p.Arg1104Leu missense ABCC8 1 83002 1.20479E-5 41501 0 NA
11-17428191-G-T p.Arg1104Arg synonymous ABCC8 8 83006 9.63786E-5 41503 0 1.91119E-4
11-17428191-G-A p.Arg1104Trp missense ABCC8 1 83006 1.20473E-5 41503 0 1.19531E-5
11-17428192-G-C p.Asn1103Lys missense ABCC8 1 83018 1.20456E-5 41509 0 3.18431E-5
11-17428195-T-C p.Leu1102Leu synonymous ABCC8 2 83054 2.40807E-5 41527 0 3.18512E-5
11-17428200-GGCTGCGGTGC-G p.His1098fs frameshift ABCC8 1 83080 1.20366E-5 41540 0 NA
11-17428202-C-T p.Ser1100Asn missense ABCC8 1 83068 1.20383E-5 41534 0 NA
11-17428205-C-T p.Arg1099His missense ABCC8 3 83058 3.61193E-5 41529 0 1.19449E-5
11-17428206-G-A p.Arg1099Cys missense ABCC8 1 83082 1.20363E-5 41541 0 6.37024E-5
11-17428211-AG-A p.Leu1097fs frameshift ABCC8 1 83122 1.20305E-5 41561 0 NA
11-17428217-T-C p.Lys1095Arg missense ABCC8 1 83138 1.20282E-5 41569 0 NA
11-17428243-C-T p.Val1086Val synonymous ABCC8 1 83184 1.20215E-5 41592 0 3.97728E-6
11-17428246-AGTGACAGAC-A p.Ser1083_Thr1085del disruptive_inframe_deletion ABCC8 1 83182 1.20218E-5 41591 0 3.97725E-6
11-17428246-A-G p.Thr1085Thr synonymous ABCC8 2 83182 2.40437E-5 41591 0 NA
11-17428249-G-A p.Val1084Val synonymous ABCC8 1 83174 1.2023E-5 41587 0 NA
11-17428261-G-A p.Leu1080Leu synonymous ABCC8 5 83190 6.01034E-5 41595 0 0.0020141
11-17428265-C-G p.Cys1079Ser missense ABCC8 3 83194 3.60603E-5 41597 0 NA
11-17428265-C-T p.Cys1079Tyr missense ABCC8 2 83194 2.40402E-5 41597 0 NA
11-17428274-A-G p.Ile1076Thr missense ABCC8 1 83174 1.2023E-5 41587 0 1.64791E-5
11-17428295-G-A p.Thr1069Met missense ABCC8 45 83152 5.41178E-4 41576 0 0.00101917
11-17428323-C-T p.Asp1060Asn missense ABCC8 2 83034 2.40865E-5 41517 0 3.29554E-5
11-17428330-G-A p.Cys1057Cys synonymous ABCC8 1 82954 1.20549E-5 41477 0 NA
11-17428341-C-T c.3166-6G>A splice_region ABCC8 1 82850 1.207E-5 41425 0 8.23968E-6
11-17428439-C-T p.Ser1054Asn missense ABCC8 6 80564 7.44749E-5 40282 0 8.25709E-6
11-17428441-G-A p.Leu1053Leu synonymous ABCC8 2 80544 2.48311E-5 40272 0 6.3674E-5
11-17428443-G-A p.Leu1053Phe missense ABCC8 2 80548 2.48299E-5 40274 0 6.36659E-5
11-17428447-GCAGTTCCTGGCTGCAGGGGT-G p.Thr1045fs frameshift ABCC8 1 80372 1.24421E-5 40186 0 7.97188E-6
11-17428450-G-A p.Asn1050Asn synonymous ABCC8 1 80312 1.24514E-5 40156 0 7.97067E-6
11-17428455-T-G p.Arg1049Arg synonymous ABCC8 1 80428 1.24335E-5 40214 0 3.98451E-6
11-17428456-G-A p.Ala1048Ala synonymous ABCC8 1 80382 1.24406E-5 40191 0 NA
11-17428479-C-T p.Ala1041Thr missense ABCC8 1 79966 1.25053E-5 39983 0 1.99322E-5
11-17428480-G-T p.Ser1040Arg missense ABCC8 1 79884 1.25182E-5 39942 0 NA
11-17428485-C-T p.Asp1039Asn missense ABCC8 15 79958 1.87598E-4 39979 0 9.96548E-5
11-17428486-G-A p.Pro994Leu missense ABCC8 15 79922 1.87683E-4 39961 0 0.00125
11-17428491-A-C p.Trp1037Gly missense ABCC8 1 79970 1.25047E-5 39985 0 NA
11-17428497-C-A p.Ala1035Ser missense ABCC8 1 79944 1.25088E-5 39972 0 NA
11-17428498-C-T p.Trp990* stop_gained ABCC8 7 80040 8.74563E-5 40020 0 6.37146E-5
11-17428510-G-T p.Ser986* stop_gained ABCC8 2 79656 2.5108E-5 39828 0 1.6527E-5
11-17428524-C-T p.Trp981* stop_gained ABCC8 1 79300 1.26103E-5 39650 0 4.78354E-5
11-17428534-G-T p.Ser978* stop_gained ABCC8 3 78954 3.79968E-5 39477 0 3.18492E-5
11-17428550-A-G p.Val1017Ala missense ABCC8 1 78020 1.28172E-5 39010 0 1.1981E-5
11-17428558-C-T p.Arg970His missense ABCC8 4 77154 5.18444E-5 38577 0 6.25E-4
11-17428559-G-A p.Ser1014Leu missense ABCC8 1 77130 1.29651E-5 38565 0 8.28199E-6
11-17428579-G-A p.Pro963Leu missense ABCC8 4 74204 5.39054E-5 37102 0 4.97768E-5
11-17428581-A-G p.Ser1007Pro missense ABCC8 1 73912 1.35296E-5 36956 0 NA
11-17428597-G-A p.Ala957Val missense ABCC8 30 71032 4.22345E-4 35516 0 0.00136508
11-17428604-C-G p.Arg999Pro missense ABCC8 1 70056 1.42743E-5 35028 0 8.31739E-6
11-17428611-G-C p.Pro997Ala missense ABCC8 1 69578 1.43724E-5 34789 0 NA
11-17428614-T-C p.Ile996Val missense ABCC8 1 69200 1.44509E-5 34600 0 6.37227E-5
11-17428615-C-T p.Arg951Lys missense ABCC8 1 69086 1.44747E-5 34543 0 3.18654E-5
11-17428617-C-T p.Glu995Lys missense ABCC8 1 68880 1.4518E-5 34440 0 2.50058E-5
11-17428620-C-T p.Ala994Thr missense ABCC8 1 68478 1.46032E-5 34239 0 3.18634E-5
11-17428622-C-G p.Arg993Pro missense ABCC8 1 68248 1.46524E-5 34124 0 6.37105E-5
11-17428622-C-T p.Arg993His missense ABCC8 1 68248 1.46524E-5 34124 0 3.63666E-5
11-17428637-G-A p.Ser988Phe missense ABCC8 2 67810 2.94942E-5 33905 0 2.53233E-5
11-17428639-C-T p.Arg943His missense ABCC8 94 67298 0.00139677 33649 0 0.00324944
11-17428640-G-A p.Ser987Leu missense ABCC8 1 67418 1.48328E-5 33709 0 3.18512E-5
11-17428659-C-T p.Glu981Lys missense ABCC8 3 67628 4.43603E-5 33814 0 6.25E-4
11-17428660-G-A p.Ala936Val missense ABCC8 4 67152 5.95664E-5 33576 0 9.55475E-5
11-17428668-C-T p.Ala978Thr missense ABCC8 1 67860 1.47362E-5 33930 0 0.00125
11-17428674-C-A p.Glu976* stop_gained ABCC8 1 68080 1.46886E-5 34040 0 NA
11-17428893-G-T c.2923+8C>A splice_region ABCC8 1 83320 1.20019E-5 41660 0 NA
11-17428897-G-A c.2923+4C>T splice_region ABCC8 1 83338 1.19993E-5 41669 0 NA
11-17428933-T-C p.Asp964Gly missense ABCC8 2 83374 2.39883E-5 41687 0 2.1415E-4
11-17428938-C-T p.Ser962Ser synonymous ABCC8 1 83378 1.19936E-5 41689 0 6.25E-4
11-17428946-T-G p.Met960Leu missense ABCC8 2 83374 2.39883E-5 41687 0 3.18451E-5
11-17428951-C-T p.Arg958His missense ABCC8 3 83372 3.59833E-5 41686 0 3.18099E-5
11-17428952-G-C p.Arg958Gly missense ABCC8 5 83374 5.99707E-5 41687 0 5.03525E-4
11-17428961-C-G p.Gly955Arg missense ABCC8 2 83366 2.39906E-5 41683 0 NA
11-17428963-TG-T p.Gln954fs frameshift ABCC8 2 83368 2.399E-5 41684 0 NA
11-17428966-G-A p.Pro953Leu missense ABCC8 2 83370 2.39894E-5 41685 0 NA
11-17428979-C-T p.Ala949Thr missense ABCC8 1 83350 1.19976E-5 41675 0 NA
11-17428986-C-T p.Glu946Glu synonymous ABCC8 1 83340 1.1999E-5 41670 0 3.18471E-5
11-17429932-T-C c.2823+7A>G splice_region ABCC8 3 83072 3.61133E-5 41536 0 1.19455E-5
11-17429935-C-T c.2823+4G>A splice_region ABCC8 2 83080 2.40732E-5 41540 0 1.99095E-5
11-17429935-C-A c.2823+4G>T splice_region ABCC8 1 83080 1.20366E-5 41540 0 NA
11-17429956-C-T p.Asp936Asn missense ABCC8 1 83160 1.2025E-5 41580 0 1.9891E-5
11-17429972-G-C p.Thr930Thr synonymous ABCC8 1 83210 1.20178E-5 41605 0 NA
11-17429984-C-T p.Glu926Glu synonymous ABCC8 1 83236 1.2014E-5 41618 0 NA
11-17429986-C-G p.Glu926Gln missense ABCC8 5 83226 6.00774E-5 41613 0 5.96573E-5
11-17429988-A-G p.Phe925Ser missense ABCC8 1 83226 1.20155E-5 41613 0 NA
11-17430021-AG-A p.Leu914fs frameshift ABCC8 1 83258 1.20109E-5 41629 0 NA
11-17430025-T-C p.Thr913Ala missense ABCC8 4 83254 4.80457E-5 41627 0 NA
11-17430034-T-C p.Arg910Gly missense ABCC8 1 83260 1.20106E-5 41630 0 NA
11-17430053-C-T p.Met903Ile missense ABCC8 2 83208 2.40361E-5 41604 0 6.37105E-5
11-17430055-T-C p.Met903Val missense ABCC8 1 83200 1.20192E-5 41600 0 1.60481E-5
11-17430060-A-G p.Ile901Thr missense ABCC8 1 83186 1.20213E-5 41593 0 4.02321E-6
11-17432066-G-A p.Asp898Asp synonymous ABCC8 1 82724 1.20884E-5 41362 0 8.2375E-6
11-17432072-A-C p.His896Gln missense ABCC8 2 82870 2.41342E-5 41435 0 NA
11-17432078-C-T p.Leu894Leu synonymous ABCC8 1 82976 1.20517E-5 41488 0 3.18593E-5
11-17432091-T-G p.Lys890Thr missense ABCC8 1 83148 1.20267E-5 41574 0 3.18796E-5
11-17432115-C-T p.Arg882Lys missense ABCC8 1 83310 1.20034E-5 41655 0 8.23642E-6
11-17432122-C-T p.Asp880Asn missense ABCC8 4 83318 4.80088E-5 41659 0 6.58913E-5
11-17432127-C-T p.Arg878Gln missense ABCC8 3 83316 3.60075E-5 41658 0 6.58913E-5
11-17432138-A-C p.Leu874Leu synonymous ABCC8 1 83330 1.20005E-5 41665 0 8.23642E-6
11-17432147-G-A p.Ala871Ala synonymous ABCC8 104 83328 0.00124808 41664 1 0.0020141
11-17432172-T-C p.His863Arg missense ABCC8 1 83320 1.20019E-5 41660 0 7.95292E-6
11-17432174-G-C p.Ile862Met missense ABCC8 4 83324 4.80054E-5 41662 0 1.19299E-5
11-17432195-G-T p.Asp855Glu missense ABCC8 1 83254 1.20114E-5 41627 0 NA
11-17434212-C-T c.2559+1G>A splice_donor ABCC8 1 82674 1.20957E-5 41337 0 1.1554E-5
11-17434219-G-C p.Val851Val synonymous ABCC8 1 82710 1.20904E-5 41355 0 3.18613E-5
11-17434221-C-A p.Val851Phe missense ABCC8 1 82706 1.2091E-5 41353 0 3.18654E-5
11-17434224-C-T p.Val850Ile missense ABCC8 1 82708 1.20907E-5 41354 0 6.37267E-5
11-17434225-G-A p.Asn849Asn synonymous ABCC8 5 82712 6.04507E-5 41356 0 6.25E-4
11-17434230-C-T p.Ala848Thr missense ABCC8 3 82722 3.6266E-5 41361 0 6.25E-4
11-17434231-G-A p.His847His synonymous ABCC8 382 82732 0.00461732 41366 3 0.0100389
11-17434242-G-C p.Leu844Val missense ABCC8 1 82760 1.20831E-5 41380 0 NA
11-17434262-C-T p.Arg837Gln missense ABCC8 1 82756 1.20837E-5 41378 0 1.07335E-5
11-17434264-C-T p.Gln836Gln synonymous ABCC8 1 82744 1.20855E-5 41372 0 NA
11-17434269-G-A p.Arg835Cys missense ABCC8 1 82730 1.20875E-5 41365 0 1.08994E-4
11-17434282-C-T p.Leu830Leu synonymous ABCC8 6 82628 7.26146E-5 41314 0 3.70758E-5
11-17434284-G-A p.Leu830Leu synonymous ABCC8 9223 82474 0.111829 41237 638 0.141499
11-17434936-C-T c.2478+5G>A splice_region ABCC8 1 83360 1.19962E-5 41680 0 NA
11-17434942-C-T p.Arg826Gln missense+splice_region ABCC8 1 83358 1.19964E-5 41679 0 NA
11-17434943-G-T p.Arg826Arg splice_region+synonymous ABCC8 3 83356 3.59902E-5 41678 0 3.18532E-5
11-17434956-G-A p.Thr821Thr synonymous ABCC8 1 83354 1.1997E-5 41677 0 6.25E-4
11-17434965-T-C p.Gly818Gly synonymous ABCC8 1 83358 1.19964E-5 41679 0 NA
11-17434969-T-C p.His817Arg missense ABCC8 1 83356 1.19967E-5 41678 0 3.18715E-5
11-17434982-C-T p.Asp813Asn missense ABCC8 2 83336 2.39992E-5 41668 0 1.07073E-4
11-17434986-G-A p.Asp811Asp synonymous ABCC8 1 83326 1.20011E-5 41663 0 NA
11-17434994-G-T p.Gln809Lys missense ABCC8 4 83316 4.801E-5 41658 0 0.00100705
11-17435007-T-G p.Glu804Asp missense ABCC8 1 83276 1.20083E-5 41638 0 NA
11-17435030-C-T c.2394-5G>A splice_region ABCC8 3 83124 3.60907E-5 41562 0 7.15865E-5
11-17435031-G-A c.2394-6C>T splice_region ABCC8 5 83120 6.0154E-5 41560 0 9.06081E-5
11-17436059-C-T p.Arg798Gln missense+splice_region ABCC8 2 83342 2.39975E-5 41671 0 1.27389E-4
11-17436060-G-A p.Arg798Trp missense+splice_region ABCC8 3 83350 3.59928E-5 41675 0 4.94185E-5
11-17436105-T-G p.Thr783Pro missense ABCC8 1 83362 1.19959E-5 41681 0 3.18492E-5
11-17436106-G-A p.Ala782Ala synonymous ABCC8 1 83368 1.1995E-5 41684 0 NA
11-17436131-G-A p.Ser774Leu missense ABCC8 1 83352 1.19973E-5 41676 0 NA
11-17436142-C-T p.Val770Val synonymous ABCC8 1 83330 1.20005E-5 41665 0 NA
11-17436144-C-T p.Val770Met missense ABCC8 1 83322 1.20016E-5 41661 0 2.47296E-5
11-17436145-G-A p.Pro769Pro synonymous ABCC8 11 83318 1.32024E-4 41659 0 0.00125
11-17436148-G-T p.Gly768Gly synonymous ABCC8 2 83314 2.40056E-5 41657 0 NA
11-17436843-C-T c.2294+8G>A splice_region ABCC8 5 82222 6.0811E-5 41111 0 1.67349E-5
11-17436844-G-A c.2294+7C>T splice_region ABCC8 1 82246 1.21586E-5 41123 0 3.70096E-5
11-17436847-G-A c.2294+4C>T splice_region ABCC8 1 82304 1.21501E-5 41152 0 3.18674E-5
11-17436852-T-C p.Arg765Gly missense+splice_region ABCC8 1 82364 1.21412E-5 41182 0 NA
11-17436862-G-T p.Asp761Glu missense ABCC8 1 82424 1.21324E-5 41212 0 4.11512E-6
11-17436864-C-T p.Asp761Asn missense ABCC8 2 82422 2.42654E-5 41211 0 4.11276E-6
11-17436865-G-A p.Thr760Thr synonymous ABCC8 2335 82362 0.0283505 41181 46 0.034878
11-17436869-G-A p.Ala759Val missense ABCC8 2 82428 2.42636E-5 41214 0 2.25139E-5
11-17436872-G-C p.Thr758Arg missense ABCC8 1 82438 1.21303E-5 41219 0 1.02606E-4
11-17436878-C-T p.Arg756Gln missense ABCC8 4 82450 4.85143E-5 41225 0 7.78504E-5
11-17436889-G-A c.2259-3C>T splice_region ABCC8 4 82444 4.85178E-5 41222 0 5.52914E-5
11-17438483-T-A p.Asp751Val missense ABCC8 1 83148 1.20267E-5 41574 0 3.97959E-6
11-17438493-T-G p.Ile748Leu missense ABCC8 4 83188 4.80839E-5 41594 0 8.30758E-6
11-17438497-G-A p.Ser746Ser synonymous ABCC8 2 83182 2.40437E-5 41591 0 9.9744E-5
11-17438519-C-A c.2223-7G>T splice_region ABCC8 1 83136 1.20285E-5 41568 0 6.25E-4
11-17448590-T-G c.2222+6A>C splice_region ABCC8 1 82962 1.20537E-5 41481 0 3.98356E-6
11-17448601-C-A p.Trp739Cys missense ABCC8 1 83062 1.20392E-5 41531 0 1.19412E-5
11-17448612-C-A p.Ala736Ser missense ABCC8 3 83132 3.60872E-5 41566 0 3.18776E-5
11-17448620-A-G p.Val733Ala missense ABCC8 1 83158 1.20253E-5 41579 0 NA
11-17448627-G-C p.Gln731Glu missense ABCC8 3 83170 3.60707E-5 41585 1 3.18715E-5
11-17448635-C-A p.Gly728Val missense ABCC8 1 83186 1.20213E-5 41593 0 NA
11-17448640-T-C p.Ala726Ala synonymous ABCC8 4 83150 4.81058E-5 41575 0 1.47233E-4
11-17448642-C-T p.Ala726Thr missense ABCC8 74 83156 8.89894E-4 41578 0 6.25E-4
11-17448643-G-A p.Ala725Ala synonymous ABCC8 1 83150 1.20265E-5 41575 0 2.47525E-5
11-17448649-A-G p.Leu723Leu synonymous ABCC8 1 83118 1.20311E-5 41559 0 NA
11-17448654-G-A p.Leu722Phe missense ABCC8 3 83062 3.61176E-5 41531 0 3.18464E-5
11-17448655-C-T p.Ser721Ser synonymous ABCC8 6 83026 7.22665E-5 41513 0 0.00151057
11-17448658-G-A p.Ser720Ser synonymous ABCC8 1 83006 1.20473E-5 41503 0 3.9821E-6
11-17448666-C-T p.Gly718Ser missense ABCC8 1 82852 1.20697E-5 41426 0 1.65456E-5
11-17448667-G-A p.Cys717Cys synonymous ABCC8 1 82808 1.20761E-5 41404 0 NA
11-17448683-A-G p.Val712Ala missense ABCC8 2 82568 2.42225E-5 41284 0 8.30537E-6
11-17448703-T-A c.2117-2A>T splice_acceptor ABCC8 1 81514 1.22678E-5 40757 0 4.02023E-6
11-17448704-G-A c.2117-3C>T splice_region ABCC8 30606 77450 0.395171 38725 6184 0.440302
11-17449425-C-T p.Arg702His missense ABCC8 1 80682 1.23943E-5 40341 0 2.79007E-5
11-17449426-G-A p.Arg702Cys missense ABCC8 5 80820 6.18659E-5 40410 0 1.52773E-4
11-17449436-G-A p.Asn698Asn synonymous ABCC8 3 81292 3.6904E-5 40646 0 8.48248E-5
11-17449469-C-T p.Thr687Thr synonymous ABCC8 2 81722 2.44732E-5 40861 0 1.19698E-5
11-17449470-G-A p.Thr687Met missense ABCC8 2 81768 2.44594E-5 40884 0 2.8677E-4
11-17449473-A-T p.Phe686Tyr missense ABCC8 2 81810 2.44469E-5 40905 0 3.98915E-6
11-17449488-A-G p.Ile681Thr missense+splice_region ABCC8 1 81798 1.22252E-5 40899 0 7.99501E-6
11-17449492-T-C c.2041-3A>G splice_region ABCC8 1 81788 1.22267E-5 40894 0 8.015E-6
11-17449830-A-T c.2040+6T>A splice_region ABCC8 1 82650 1.20992E-5 41325 0 8.36932E-6
11-17449833-C-T c.2040+3G>A splice_region ABCC8 2 82694 2.41856E-5 41347 0 NA
11-17449843-C-T p.Cys678Tyr missense ABCC8 2 82780 2.41604E-5 41390 0 NA
11-17449857-A-G p.Asp673Asp synonymous ABCC8 1 82818 1.20747E-5 41409 0 NA
11-17449859-C-T p.Asp673Asn missense ABCC8 1 82812 1.20755E-5 41406 0 6.36983E-5
11-17449860-G-A p.Gly672Gly synonymous ABCC8 2 82802 2.4154E-5 41401 0 6.3678E-5
11-17449871-T-C p.Ser669Gly missense ABCC8 1 82798 1.20776E-5 41399 0 1.19486E-5
11-17449878-C-G p.Leu666Leu synonymous ABCC8 1 82804 1.20767E-5 41402 0 3.18593E-5
11-17449882-C-A p.Ser665Ile missense ABCC8 1 82796 1.20779E-5 41398 0 NA
11-17449883-T-A p.Ser665Cys missense ABCC8 1 82790 1.20788E-5 41395 0 8.3167E-6
11-17449891-G-T p.Pro662Gln missense ABCC8 1 82794 1.20782E-5 41397 0 3.18634E-5
11-17449894-C-T p.Gly661Asp missense ABCC8 1 82764 1.20825E-5 41382 0 NA
11-17449895-C-T p.Gly661Ser missense ABCC8 5 82710 6.04522E-5 41355 0 3.18715E-5
11-17449896-G-A p.Thr660Thr synonymous ABCC8 1 82796 1.20779E-5 41398 0 8.31186E-6
11-17449903-C-A p.Gly658Val missense ABCC8 2 82804 2.41534E-5 41402 0 3.18552E-5
11-17449903-C-T p.Gly658Asp missense ABCC8 1 82804 1.20767E-5 41402 0 NA
11-17449905-C-G p.Arg657Arg synonymous ABCC8 1 82852 1.20697E-5 41426 0 NA
11-17449906-C-T p.Arg657Gln missense ABCC8 9 82862 1.08614E-4 41431 0 6.37267E-5
11-17449907-G-A p.Arg657Trp missense ABCC8 1 82866 1.20677E-5 41433 0 5.81376E-5
11-17449917-CCGGG-C p.Ala652fs frameshift ABCC8 2 82930 2.41167E-5 41465 0 NA
11-17449918-C-T p.Arg653Gln missense ABCC8 15 82942 1.80849E-4 41471 0 0.0020141
11-17449919-G-A p.Arg653Trp missense ABCC8 3 82930 3.61751E-5 41465 0 3.18674E-5
11-17449927-C-T p.Arg650His missense ABCC8 1 82950 1.20555E-5 41475 0 1.19553E-5
11-17449929-C-T p.Lys649Lys synonymous ABCC8 12319 82636 0.149075 41318 961 0.178492
11-17449929-C-A p.Lys649Asn missense ABCC8 2 82960 2.4108E-5 41480 0 NA
11-17449933-C-T p.Arg648His missense ABCC8 1 82946 1.2056E-5 41473 0 5.03525E-4
11-17449944-C-A p.Arg644Ser missense ABCC8 1 82960 1.2054E-5 41480 0 1.66506E-5
11-17449950-G-C p.Pro642Pro splice_region+synonymous ABCC8 88 82968 0.00106065 41484 0 0.00277158
11-17449952-G-A p.Pro642Ser missense+splice_region ABCC8 1 82968 1.20528E-5 41484 0 2.50133E-5
11-17449956-G-A c.1924-4C>T splice_region ABCC8 1 82962 1.20537E-5 41481 0 4.17313E-5
11-17449957-G-A c.1924-5C>T splice_region ABCC8 1 82988 1.20499E-5 41494 0 NA
11-17449958-G-A c.1924-6C>T splice_region ABCC8 3 82986 3.61507E-5 41493 0 1.19949E-5
11-17449959-G-A c.1924-7C>T splice_region ABCC8 1 82984 1.20505E-5 41492 0 NA
11-17450109-C-T c.1923+3G>A splice_region ABCC8 4 83152 4.81047E-5 41576 0 3.18674E-4
11-17450115-C-T p.Ala640Ala synonymous ABCC8 35 83128 4.21037E-4 41564 2 9.55779E-4
11-17450116-G-A p.Ala640Val missense ABCC8 9 83130 1.08264E-4 41565 0 6.25E-4
11-17450116-G-T p.Ala640Glu missense ABCC8 2 83130 2.40587E-5 41565 0 8.256E-6
11-17450117-C-A p.Ala640Ser missense ABCC8 3 83134 3.60863E-5 41567 0 NA
11-17450118-C-G p.Gln639His missense ABCC8 1 83154 1.20259E-5 41577 0 NA
11-17450134-G-A p.Pro634Leu missense ABCC8 1 83134 1.20288E-5 41567 0 NA
11-17450140-T-G p.Gln632Pro missense ABCC8 2 83122 2.4061E-5 41561 0 NA
11-17450149-G-A p.Pro629Leu missense ABCC8 2 83104 2.40662E-5 41552 0 2.47374E-5
11-17450153-C-T p.Glu628Lys missense ABCC8 1 83122 1.20305E-5 41561 0 2.47386E-5
11-17450155-TG-T p.His627fs frameshift ABCC8 1 83120 1.20308E-5 41560 0 NA
11-17450155-T-C p.His627Arg missense ABCC8 1 83120 1.20308E-5 41560 0 6.37877E-5
11-17450156-G-T p.His627Asn missense ABCC8 1 83124 1.20302E-5 41562 0 NA
11-17450161-G-A p.Ala625Val missense ABCC8 22 83102 2.64735E-4 41551 0 7.64965E-4
11-17450170-T-C p.Glu622Gly missense ABCC8 1 83104 1.20331E-5 41552 0 3.98096E-6
11-17450177-G-A p.Arg620Cys missense ABCC8 109 83110 0.00131151 41555 0 0.00251849
11-17450180-T-A p.Ile619Phe missense ABCC8 1 83126 1.20299E-5 41563 0 NA
11-17450193-C-T c.1818-6G>A splice_region ABCC8 1 83114 1.20317E-5 41557 0 NA
11-17450202-G-A p.Ser611Ser synonymous ABCC8 1 83054 1.20404E-5 41527 0 1.19656E-5
11-17450205-T-C p.Leu610Leu synonymous ABCC8 2 83058 2.40796E-5 41529 0 8.26597E-6
11-17450216-C-T p.Val607Met missense+splice_region ABCC8 1 82962 1.20537E-5 41481 0 1.65664E-5
11-17450217-G-A p.Ser606Ser splice_region+synonymous ABCC8 1 82928 1.20587E-5 41464 0 2.48567E-5
11-17450223-C-T c.1818-6G>A splice_region ABCC8 16 82846 1.93129E-4 41423 0 6.25E-4
11-17450223-CG-C c.1818-7delC splice_region ABCC8 1 82852 1.20697E-5 41426 0 NA
11-17450224-G-C c.1818-7C>G splice_region ABCC8 1 82844 1.20709E-5 41422 0 NA
11-17450224-G-A c.1818-7C>T splice_region ABCC8 2 82844 2.41418E-5 41422 0 6.37592E-5
11-17452355-C-T c.1817+6G>A splice_region ABCC8 2 83136 2.4057E-5 41568 0 2.4715E-5
11-17452359-A-G c.1817+2T>C splice_donor ABCC8 2 83128 2.40593E-5 41564 0 8.23818E-6
11-17452378-G-A p.Thr600Thr synonymous ABCC8 1 83204 1.20187E-5 41602 0 6.37227E-5
11-17452382-G-C p.Ser599Cys missense ABCC8 1 83198 1.20195E-5 41599 0 8.23764E-6
11-17452411-C-A p.Pro589Pro synonymous ABCC8 6 83194 7.21206E-5 41597 0 NA
11-17452455-C-T p.Val575Met missense ABCC8 1 83218 1.20166E-5 41609 0 2.4715E-5
11-17452463-G-A p.Ser572Leu missense ABCC8 1 83192 1.20204E-5 41596 0 1.98891E-5
11-17452471-G-A p.Ala569Ala synonymous ABCC8 182 83142 0.00218903 41571 0 0.00303337
11-17452474-C-T p.Glu568Glu synonymous ABCC8 3 83140 3.60837E-5 41570 0 1.48417E-4
11-17452492-G-A p.His562His synonymous ABCC8 35615 82068 0.433969 41034 7838 0.433112
11-17452500-C-T p.Val560Met missense ABCC8 11 82946 1.32616E-4 41473 0 7.75075E-4
11-17452580-C-T n.114-1G>A splice_acceptor ABCC8 9333 80128 0.116476 40064 400 0.136076
11-17453756-G-A p.Leu556Phe missense ABCC8 1 81454 1.22769E-5 40727 0 6.26959E-6
11-17453774-TG-T p.Ile550fs frameshift ABCC8 1 81482 1.22726E-5 40741 0 NA
11-17453778-C-A p.Thr548Thr synonymous ABCC8 5 81478 6.13663E-5 40739 0 0.00432432
11-17453778-C-T p.Thr548Thr synonymous ABCC8 2 81478 2.45465E-5 40739 0 NA
11-17453779-G-A p.Thr548Met missense ABCC8 2 81480 2.45459E-5 40740 0 9.25755E-5
11-17464259-G-A c.1630+8C>T splice_region ABCC8 9 82636 1.08911E-4 41318 0 3.18552E-4
11-17464260-A-G c.1630+7T>C splice_region ABCC8 1 82642 1.21004E-5 41321 0 NA
11-17464266-C-T c.1630+1G>A splice_donor ABCC8 1 82672 1.2096E-5 41336 0 8.24525E-6
11-17464281-T-C p.Tyr539Cys missense ABCC8 2 82690 2.41867E-5 41345 0 0.00100705
11-17464284-A-G p.Ile538Thr missense ABCC8 1 82672 1.2096E-5 41336 0 NA
11-17464294-C-T p.Ala535Thr missense ABCC8 1 82658 1.2098E-5 41329 0 3.98032E-6
11-17464295-C-T p.Arg534Arg synonymous ABCC8 1 82678 1.20951E-5 41339 0 3.98038E-6
11-17464321-G-A p.Arg526Cys missense ABCC8 2 82574 2.42207E-5 41287 0 3.18573E-5
11-17464325-C-T p.Thr524Thr synonymous ABCC8 335 82518 0.00405972 41259 6 0.00850752
11-17464326-G-A p.Thr524Met missense ABCC8 3 82546 3.63434E-5 41273 0 3.29897E-5
11-17464330-C-T p.Glu523Lys missense ABCC8 1 82550 1.21139E-5 41275 0 NA
11-17464333-C-T p.Val522Met missense ABCC8 3 82538 3.63469E-5 41269 0 3.18573E-5
11-17464335-C-T p.Arg521Gln missense ABCC8 17 82528 2.05991E-4 41264 0 9.95381E-5
11-17464336-G-A p.Arg521Trp missense ABCC8 1 82484 1.21236E-5 41242 0 3.2993E-5
11-17464337-C-T p.Thr520Thr synonymous ABCC8 2 82512 2.42389E-5 41256 0 8.24797E-6
11-17464340-G-C p.Arg519Arg synonymous ABCC8 1 82518 1.21186E-5 41259 0 NA
11-17464341-C-T p.Arg519His missense ABCC8 2 82508 2.42401E-5 41254 0 8.24851E-6
11-17464342-G-A p.Arg519Cys missense ABCC8 1 82536 1.21159E-5 41268 0 9.95453E-5
11-17464360-C-T p.Ala513Thr missense ABCC8 3 82480 3.63725E-5 41240 0 4.77836E-5
11-17464366-G-C p.Leu511Val missense ABCC8 2 82488 2.4246E-5 41244 0 8.25409E-6
11-17464376-C-T p.Lys507Lys synonymous ABCC8 1 82420 1.2133E-5 41210 0 NA
11-17464381-T-G p.Ile506Leu missense ABCC8 1 82412 1.21342E-5 41206 0 8.25832E-6
11-17464384-C-T p.Gly505Ser missense ABCC8 5 82362 6.07076E-5 41181 0 3.18735E-5
11-17464385-G-A p.Arg504Arg synonymous ABCC8 8 82334 9.71652E-5 41167 0 5.03525E-4
11-17464386-C-T p.Arg504His missense ABCC8 1 82302 1.21504E-5 41151 0 9.5584E-5
11-17464387-G-A p.Arg504Cys missense ABCC8 1 82332 1.21459E-5 41166 0 8.26173E-6
11-17464393-T-A p.Met502Leu missense ABCC8 1 82290 1.21521E-5 41145 0 NA
11-17464411-G-A p.Leu496Leu synonymous ABCC8 18 82050 2.19378E-4 41025 0 6.25E-4
11-17464432-G-A c.1468-3C>T splice_region ABCC8 1 81388 1.22868E-5 40694 0 4.01626E-6
11-17464436-G-A c.1468-7C>T splice_region ABCC8 1 81198 1.23156E-5 40599 0 NA
11-17464724-C-A c.1467+1G>T splice_donor ABCC8 1 82748 1.20849E-5 41374 0 NA
11-17464735-C-T p.Arg486Gln missense ABCC8 3 82774 3.62433E-5 41387 0 3.29603E-5
11-17464736-G-A p.Arg486Trp missense ABCC8 1 82778 1.20805E-5 41389 0 NA
11-17464763-C-T p.Val477Met missense ABCC8 2 82946 2.41121E-5 41473 0 1.64766E-5
11-17464785-T-G p.Leu469Leu synonymous ABCC8 9 83048 1.08371E-4 41524 0 0.00100705
11-17464808-T-C p.Ile462Val missense ABCC8 68 83078 8.18508E-4 41539 0 0.00117955
11-17464823-C-T p.Gly457Arg missense ABCC8 3 83064 3.61167E-5 41532 0 4.94283E-5
11-17464829-T-C p.Ile455Val missense ABCC8 1 83078 1.20369E-5 41539 0 NA
11-17464837-A-T p.Leu452His missense ABCC8 1 83090 1.20351E-5 41545 0 NA
11-17464847-C-T p.Val449Met missense ABCC8 1 83104 1.20331E-5 41552 0 3.97871E-6
11-17464848-A-G p.Gly448Gly synonymous ABCC8 1 83094 1.20346E-5 41547 0 NA
11-17464852-A-C p.Val447Gly missense ABCC8 1 83078 1.20369E-5 41539 0 NA
11-17470058-AG-A c.1332+4delC splice_region ABCC8 71 83230 8.53058E-4 41615 0 0.00235729
11-17470063-C-A p.Gln444His missense+splice_region ABCC8 1 83254 1.20114E-5 41627 0 NA
11-17470074-T-C p.Met441Val missense ABCC8 1 83302 1.20045E-5 41651 0 NA
11-17470081-G-C p.Leu438Leu synonymous ABCC8 2 83318 2.40044E-5 41659 0 NA
11-17470088-G-T p.Pro436Gln missense ABCC8 1 83326 1.20011E-5 41663 0 NA
11-17470108-C-T p.Met429Ile missense ABCC8 1 83350 1.19976E-5 41675 0 NA
11-17470110-T-TGAGCTGATTGGTGTCGATGGCAACCAGATTA p.Met429fs frameshift ABCC8 1 83346 1.19982E-5 41673 0 1.59061E-5
11-17470116-G-A p.Gln427* stop_gained ABCC8 1 83368 1.1995E-5 41684 0 NA
11-17470118-T-C p.Asn426Ser missense ABCC8 1 83370 1.19947E-5 41685 0 8.23669E-6
11-17470125-C-T p.Asp424Asn missense ABCC8 4 83378 4.79743E-5 41689 0 3.18512E-5
11-17470126-G-T p.Ile423Ile synonymous ABCC8 4 83378 4.79743E-5 41689 0 3.18532E-5
11-17470126-G-A p.Ile423Ile synonymous ABCC8 3 83378 3.59807E-5 41689 0 2.38591E-5
11-17470130-G-A p.Ala422Val missense ABCC8 2 83372 2.39889E-5 41686 0 3.18451E-5
11-17470139-T-C p.Asn419Ser missense ABCC8 1 83386 1.19924E-5 41693 0 NA
11-17470143-A-G p.Cys418Arg missense ABCC8 64 83390 7.67478E-4 41695 0 0.00151057
11-17470183-G-A p.Thr404Thr synonymous ABCC8 1 83394 1.19913E-5 41697 0 3.18471E-5
11-17470192-G-A p.His401His synonymous ABCC8 2 83382 2.3986E-5 41691 0 NA
11-17470217-G-C p.Thr393Ser missense+splice_region ABCC8 1 83364 1.19956E-5 41682 0 8.23642E-6
11-17470221-A-G c.1177-3T>C splice_region ABCC8 1 83362 1.19959E-5 41681 0 7.95298E-6
11-17474664-A-G c.1176+2T>C splice_donor ABCC8 2 83284 2.40142E-5 41642 0 2.78365E-5
11-17474684-G-A p.Asn386Asn synonymous ABCC8 449 83296 0.00539041 41648 7 0.0119442
11-17474696-T-C p.Glu382Glu synonymous ABCC8 2 83304 2.40085E-5 41652 0 NA
11-17474709-T-C p.Tyr378Cys missense ABCC8 2 83304 2.40085E-5 41652 0 3.97646E-6
11-17474719-C-T p.Ala375Thr missense ABCC8 1 83298 1.20051E-5 41649 0 3.29473E-5
11-17474747-G-A p.Ala365Ala synonymous ABCC8 3 83308 3.60109E-5 41654 0 3.18573E-5
11-17474767-C-A p.Ala359Ser missense ABCC8 1 83312 1.20031E-5 41656 0 3.97655E-6
11-17474775-T-C p.Tyr356Cys missense ABCC8 15 83306 1.80059E-4 41653 0 3.97678E-5
11-17474779-C-T p.Ala355Thr missense ABCC8 25 83300 3.0012E-4 41650 0 6.05211E-4
11-17474780-A-G p.Asn354Asn synonymous ABCC8 1 83304 1.20042E-5 41652 0 NA
11-17474817-C-G p.Gly342Ala missense ABCC8 1 83282 1.20074E-5 41641 0 NA
11-17474818-C-T p.Gly342Arg missense ABCC8 2 83282 2.40148E-5 41641 0 3.30989E-5
11-17474819-G-A p.Leu341Leu synonymous ABCC8 3 83274 3.60256E-5 41637 0 3.31323E-5
11-17474825-T-C p.Gln339Gln synonymous ABCC8 1 83268 1.20094E-5 41634 0 5.03525E-4
11-17482036-T-C p.Lys337Arg missense+splice_region ABCC8 1 83000 1.20482E-5 41500 0 NA
11-17482044-G-A p.Phe334Phe synonymous ABCC8 1 83040 1.20424E-5 41520 0 3.18471E-5
11-17482049-C-T p.Val333Ile missense ABCC8 1 83044 1.20418E-5 41522 0 3.18431E-5
11-17482050-G-A p.Asp332Asp synonymous ABCC8 2 83072 2.40755E-5 41536 0 1.99075E-5
11-17482050-G-T p.Asp332Glu missense ABCC8 2 83072 2.40755E-5 41536 0 1.65074E-5
11-17482056-C-T p.Glu330Glu synonymous ABCC8 1 83102 1.20334E-5 41551 0 8.25341E-6
11-17482062-C-A p.Gly328Gly synonymous ABCC8 7 83112 8.42237E-5 41556 0 6.36902E-5
11-17482073-C-T p.Asp325Asn missense ABCC8 10 83112 1.2032E-4 41556 0 3.18492E-5
11-17482088-T-C p.Ile320Val missense ABCC8 1 83138 1.20282E-5 41569 0 NA
11-17482100-C-T p.Gly316Arg missense ABCC8 2 83136 2.4057E-5 41568 0 3.18573E-5
11-17482101-G-A p.Ala315Ala synonymous ABCC8 43 83128 5.17275E-4 41564 0 0.00152847
11-17482103-C-T p.Ala315Thr missense ABCC8 1 83134 1.20288E-5 41567 0 6.25E-4
11-17482104-G-A p.Phe314Phe synonymous ABCC8 2 83140 2.40558E-5 41570 0 6.36943E-5
11-17482107-G-A p.Gly313Gly synonymous ABCC8 1 83144 1.20273E-5 41572 0 NA
11-17482118-C-T p.Asp310Asn missense ABCC8 2 83144 2.40547E-5 41572 0 1.1955E-5
11-17482118-C-A p.Asp310Tyr missense ABCC8 1 83144 1.20273E-5 41572 0 NA
11-17482119-G-A p.Ala309Ala synonymous ABCC8 1 83144 1.20273E-5 41572 0 6.3678E-5
11-17482120-G-C p.Ala309Gly missense ABCC8 2 83134 2.40575E-5 41567 0 2.39179E-5
11-17482130-G-A p.Arg306Cys missense ABCC8 4 83130 4.81174E-5 41565 0 2.79167E-5
11-17482152-G-T p.Arg298Arg synonymous ABCC8 3 82978 3.61542E-5 41489 0 8.29311E-6
11-17482153-C-A p.Arg298Leu missense ABCC8 1 82954 1.20549E-5 41477 0 NA
11-17482153-C-T p.Arg298His missense ABCC8 3 82954 3.61646E-5 41477 0 1.65895E-5
11-17482154-G-A p.Arg298Cys missense ABCC8 5 82896 6.03165E-5 41448 0 5.04032E-4
11-17482156-CT-C p.Arg297fs frameshift ABCC8 2 82894 2.41272E-5 41447 0 NA
11-17482168-T-C p.His293Arg missense ABCC8 1 82786 1.20793E-5 41393 0 NA
11-17482186-A-G p.Ile287Thr missense ABCC8 1 82452 1.21283E-5 41226 0 NA
11-17482192-C-T p.Arg285Gln missense ABCC8 16 82266 1.94491E-4 41133 0 1.29179E-4
11-17482192-C-G p.Arg285Pro missense ABCC8 1 82266 1.21557E-5 41133 0 NA
11-17482202-G-A p.Gln282* stop_gained ABCC8 1 81846 1.22181E-5 40923 0 NA
11-17482222-C-T p.Arg275Gln missense+splice_region ABCC8 18 80900 2.22497E-4 40450 2 2.37627E-4
11-17482223-G-A p.Arg275Trp missense+splice_region ABCC8 1 80742 1.23851E-5 40371 0 3.18573E-5
11-17482228-C-T c.823-5G>A splice_region ABCC8 2 80444 2.4862E-5 40222 0 2.8812E-5
11-17482231-G-A c.823-8C>T splice_region ABCC8 2 80288 2.49103E-5 40144 0 1.27421E-4
11-17483123-C-G c.822+7G>C splice_region ABCC8 1 81478 1.22733E-5 40739 0 3.98651E-6
11-17483123-C-T c.822+7G>A splice_region ABCC8 1 81478 1.22733E-5 40739 0 8.24253E-6
11-17483125-C-T c.822+5G>A splice_region ABCC8 5 81514 6.13392E-5 40757 0 NA
11-17483127-G-A c.822+3C>T splice_region ABCC8 1 81606 1.2254E-5 40803 0 NA
11-17483132-C-G p.Val274Leu missense+splice_region ABCC8 2 81756 2.4463E-5 40878 0 NA
11-17483139-G-A p.Asp271Asp synonymous ABCC8 5 81992 6.09816E-5 40996 0 1.97772E-4
11-17483140-T-C p.Asp271Gly missense ABCC8 4 82060 4.87448E-5 41030 0 NA
11-17483146-G-T p.Ala269Asp missense ABCC8 3 82366 3.64228E-5 41183 0 3.18471E-5
11-17483146-GC-G p.Ala269fs frameshift ABCC8 2 82366 2.42819E-5 41183 0 3.97899E-6
11-17483146-G-C p.Ala269Gly missense ABCC8 1 82366 1.21409E-5 41183 0 8.23954E-6
11-17483150-C-T p.Glu268Lys missense ABCC8 1 82422 1.21327E-5 41211 0 3.97877E-6
11-17483151-G-A p.Cys267Cys synonymous ABCC8 3 82444 3.63883E-5 41222 0 1.64783E-5
11-17483153-A-G p.Cys267Arg missense ABCC8 1 82542 1.2115E-5 41271 0 NA
11-17483156-G-A p.Leu266Phe missense ABCC8 1 82624 1.2103E-5 41312 0 6.36902E-5
11-17483158-C-T p.Arg265Gln missense ABCC8 1 82668 1.20966E-5 41334 0 4.11923E-5
11-17483165-A-C p.Tyr263Asp missense ABCC8 3 82798 3.62328E-5 41399 0 1.98848E-5
11-17483187-G-A p.Ile255Ile synonymous ABCC8 7 82996 8.43414E-5 41498 0 6.3678E-5
11-17483202-G-T p.Ile250Ile synonymous ABCC8 2 83070 2.40761E-5 41535 0 2.47109E-5
11-17483209-C-T p.Arg248Gln missense ABCC8 1 83110 1.20322E-5 41555 0 2.47105E-5
11-17483210-G-A p.Arg248* stop_gained ABCC8 1 83112 1.2032E-5 41556 0 1.59058E-5
11-17483217-G-A p.Ile245Ile synonymous ABCC8 5 83180 6.01106E-5 41590 0 5.03525E-4
11-17483223-C-A p.Lys243Asn missense ABCC8 1 83192 1.20204E-5 41596 0 NA
11-17483229-G-A p.His241His synonymous ABCC8 2 83224 2.40315E-5 41612 0 1.59236E-4
11-17483234-C-T p.Ala240Thr missense ABCC8 1 83228 1.20152E-5 41614 0 NA
11-17483239-T-C p.Lys238Arg missense ABCC8 1 83236 1.2014E-5 41618 0 2.47097E-5
11-17483250-G-A p.Asn234Asn synonymous ABCC8 6 83254 7.20686E-5 41627 0 3.18492E-5
11-17483257-C-T p.Trp232* stop_gained ABCC8 2 83286 2.40136E-5 41643 0 NA
11-17483260-C-G p.Trp231Ser missense ABCC8 4 83290 4.8025E-5 41645 0 6.36983E-5
11-17483263-T-C p.Tyr230Cys missense ABCC8 3 83290 3.60187E-5 41645 0 1.56495E-4
11-17483288-C-T p.Val222Met missense ABCC8 2 83274 2.40171E-5 41637 0 3.18695E-5
11-17483305-C-T p.Arg216His missense ABCC8 2 83238 2.40275E-5 41619 0 9.55901E-5
11-17483306-G-A p.Arg216Cys missense ABCC8 2 83242 2.40263E-5 41621 0 1.5906E-5
11-17483310-C-T p.Gly214Gly synonymous ABCC8 1 83236 1.2014E-5 41618 0 1.64745E-5
11-17483313-C-T p.Leu213Leu synonymous ABCC8 2 83208 2.40361E-5 41604 0 3.97659E-6
11-17483325-G-A p.Asp209Asp synonymous ABCC8 6 83112 7.21917E-5 41556 0 3.29533E-5
11-17483330-C-T p.Glu208Lys missense ABCC8 1 83020 1.20453E-5 41510 0 NA
11-17483331-G-A p.Pro207Pro synonymous ABCC8 4 82974 4.82079E-5 41487 0 7.41546E-5
11-17483348-T-A p.Arg202Trp missense ABCC8 2 82754 2.4168E-5 41377 0 6.37592E-5
11-17483358-G-A p.Phe198Phe synonymous ABCC8 1 82580 1.21095E-5 41290 0 NA
11-17483370-T-C p.Arg194Arg splice_region+synonymous ABCC8 1 82474 1.2125E-5 41237 0 8.25587E-6
11-17483379-G-T c.580-7C>A splice_region ABCC8 2 82362 2.4283E-5 41181 0 6.61135E-5
11-17485001-T-C p.Asn188Ser missense ABCC8 1 82290 1.21521E-5 41145 0 NA
11-17485011-C-T p.Val185Met missense ABCC8 1 82350 1.21433E-5 41175 0 4.27765E-5
11-17485012-G-A p.Leu184Leu synonymous ABCC8 6 82364 7.28474E-5 41182 0 3.41579E-4
11-17485015-G-A p.Leu183Leu synonymous ABCC8 1 82388 1.21377E-5 41194 0 1.42849E-5
11-17485027-A-G p.Tyr179Tyr synonymous ABCC8 1 82428 1.21318E-5 41214 0 1.47288E-5
11-17485030-G-A p.Leu178Leu synonymous ABCC8 1 82430 1.21315E-5 41215 0 NA
11-17485032-G-A p.Leu178Phe missense ABCC8 1 82426 1.21321E-5 41213 0 6.37267E-5
11-17485051-G-A p.Leu171Leu synonymous ABCC8 1 82352 1.2143E-5 41176 0 4.79816E-5
11-17485057-G-A p.Phe169Phe synonymous ABCC8 4 82358 4.85684E-5 41179 0 1.75476E-5
11-17485060-G-A p.Arg168Arg synonymous ABCC8 1 82360 1.21418E-5 41180 0 1.68277E-5
11-17485062-G-A p.Arg168Cys missense ABCC8 1 82362 1.21415E-5 41181 0 3.18512E-5
11-17485066-C-T p.Gln166Gln synonymous ABCC8 1 82344 1.21442E-5 41172 0 NA
11-17485069-C-T p.Ser165Ser synonymous ABCC8 1 82298 1.2151E-5 41149 0 1.07151E-4
11-17485077-C-T p.Gly163Ser missense ABCC8 6 82496 7.27308E-5 41248 0 0.00100908
11-17485078-G-A p.Ile162Ile synonymous ABCC8 8 82506 9.69626E-5 41253 0 5.73212E-4
11-17485084-G-A p.His160His synonymous ABCC8 1 82504 1.21206E-5 41252 0 1.12537E-4
11-17485112-G-A p.Thr151Ile missense ABCC8 1 82452 1.21283E-5 41226 0 NA
11-17485117-G-T p.Thr149Thr synonymous ABCC8 1 82426 1.21321E-5 41213 0 NA
11-17485121-A-G p.Ile148Thr missense ABCC8 3 82402 3.64069E-5 41201 0 3.18451E-5
11-17485123-G-A p.Phe147Phe synonymous ABCC8 2 82406 2.42701E-5 41203 0 NA
11-17485134-T-C p.Thr144Ala missense ABCC8 1 82298 1.2151E-5 41149 0 NA
11-17485141-C-T p.Val141Val synonymous ABCC8 640 82244 0.00778172 41122 8 0.0181818
11-17485150-G-A p.Ala138Ala splice_region+synonymous ABCC8 13 82216 1.5812E-4 41108 0 0.00101112
11-17485156-C-T c.413-5G>A splice_region ABCC8 21 82086 2.55829E-4 41043 0 7.64623E-4
11-17485156-C-G c.413-5G>C splice_region ABCC8 1 82086 1.21823E-5 41043 0 3.18593E-5
11-17485157-G-A c.413-6C>T splice_region ABCC8 1 82080 1.21832E-5 41040 0 3.18512E-5
11-17485159-G-A c.413-8C>T splice_region ABCC8 1 82066 1.21853E-5 41033 0 1.6821E-5
11-17491657-G-C p.Leu135Val missense ABCC8 8 83334 9.59992E-5 41667 0 6.36699E-5
11-17491659-T-C p.Lys134Arg missense ABCC8 1 83336 1.19996E-5 41668 0 8.24661E-6
11-17491667-G-A p.Asn131Asn synonymous ABCC8 3 83340 3.59971E-5 41670 0 6.76122E-5
11-17491685-G-C p.His125Gln missense ABCC8 25 83342 2.99969E-4 41671 0 8.7503E-5
11-17491689-T-A p.Tyr124Phe missense ABCC8 1 83344 1.19985E-5 41672 0 3.18512E-5
11-17491689-T-G p.Tyr124Ser missense ABCC8 1 83344 1.19985E-5 41672 0 NA
11-17491689-T-C p.Tyr124Cys missense ABCC8 1 83344 1.19985E-5 41672 0 NA
11-17491692-T-A p.Tyr123Phe missense ABCC8 2 83340 2.39981E-5 41670 0 6.25E-4
11-17491706-G-A p.Val118Val synonymous ABCC8 207 83332 0.00248404 41666 1 0.00684801
11-17491717-T-C p.Met115Val missense ABCC8 3 83340 3.59971E-5 41670 0 2.96912E-4
11-17491721-C-T p.Ala113Ala synonymous ABCC8 3 83342 3.59963E-5 41671 0 3.97804E-6
11-17491725-A-G p.Met112Thr missense ABCC8 1 83342 1.19988E-5 41671 0 NA
11-17491730-G-A p.Ala110Ala synonymous ABCC8 4044 83320 0.0485358 41660 135 0.0654667
11-17491747-G-A p.His105Tyr missense ABCC8 2 83328 2.40015E-5 41664 0 5.03525E-4
11-17491762-C-T p.Glu100Lys missense ABCC8 5 83278 6.00399E-5 41639 0 8.26037E-5
11-17491763-G-A p.Thr99Thr synonymous ABCC8 2 83262 2.40206E-5 41631 0 NA
11-17491772-G-A c.291-3C>T splice_region ABCC8 2 83266 2.40194E-5 41633 0 3.30737E-5
11-17491777-G-A c.291-8C>T splice_region ABCC8 3 83244 3.60386E-5 41622 0 1.99064E-5
11-17496425-T-A c.290+8A>T splice_region ABCC8 1 83026 1.20444E-5 41513 0 3.18512E-5
11-17496441-C-G p.Leu94Leu synonymous ABCC8 1 83164 1.20244E-5 41582 0 1.64883E-5
11-17496449-C-T p.Gly92Ser missense ABCC8 2 83182 2.40437E-5 41591 0 3.18573E-5
11-17496468-C-T p.Leu85Leu synonymous ABCC8 1 83236 1.2014E-5 41618 0 3.97725E-6
11-17496473-C-T p.Val84Ile missense ABCC8 2 83222 2.40321E-5 41611 0 3.18654E-5
11-17496474-G-A p.Phe83Phe synonymous ABCC8 1 83232 1.20146E-5 41616 0 3.97725E-6
11-17496498-C-A p.Trp75Cys missense ABCC8 1 83220 1.20163E-5 41610 0 3.18573E-5
11-17496501-C-T p.Arg74Arg synonymous ABCC8 1 83208 1.20181E-5 41604 0 NA
11-17496506-G-A p.Leu73Leu synonymous ABCC8 1 83192 1.20204E-5 41596 0 NA
11-17496515-C-T p.Gly70Arg missense ABCC8 1 83162 1.20247E-5 41581 0 3.29875E-5
11-17496516-A-G p.Pro69Pro synonymous ABCC8 41855 82742 0.505849 41371 10793 0.599698
11-17496548-G-A p.His59Tyr missense ABCC8 2 83080 2.40732E-5 41540 0 NA
11-17496549-C-T p.Val58Val synonymous ABCC8 2 83082 2.40726E-5 41541 0 NA
11-17496563-G-T p.Gln54Lys missense ABCC8 1 82932 1.20581E-5 41466 0 NA
11-17496569-C-T p.Gly52Arg missense ABCC8 2 82870 2.41342E-5 41435 0 1.67361E-5
11-17496577-G-A c.149-3C>T splice_region ABCC8 1 82728 1.20878E-5 41364 0 NA
11-17498174-A-C c.148+2T>G splice_donor ABCC8 1 79052 1.26499E-5 39526 0 NA
11-17498177-A-G p.Ile49Ile splice_region+synonymous ABCC8 1 79066 1.26477E-5 39533 0 NA
11-17498183-G-A p.Leu47Leu synonymous ABCC8 2 79176 2.52602E-5 39588 0 4.06951E-6
11-17498188-T-A p.Ile46Phe missense ABCC8 2 79176 2.52602E-5 39588 0 9.08133E-6
11-17498198-G-A p.Ile42Ile synonymous ABCC8 2 79204 2.52512E-5 39602 0 1.80352E-5
11-17498219-C-T p.Pro35Pro synonymous ABCC8 15 79080 1.89681E-4 39540 0 3.1902E-4
11-17498220-G-A p.Pro35Leu missense ABCC8 1 79126 1.26381E-5 39563 0 NA
11-17498222-C-T p.Val34Val synonymous ABCC8 29 79090 3.66671E-4 39545 0 0.00110346
11-17498233-G-A p.Leu31Phe missense ABCC8 1 79092 1.26435E-5 39546 0 1.8869E-5
11-17498234-C-T p.Ala30Ala synonymous ABCC8 3 79060 3.79459E-5 39530 0 3.68526E-5
11-17498240-C-T p.Val28Val synonymous ABCC8 1 79088 1.26441E-5 39544 0 3.1904E-5
11-17498245-A-G p.Phe27Leu missense ABCC8 1 79150 1.26342E-5 39575 0 4.10721E-6
11-17498248-A-T p.Cys26Ser missense ABCC8 1 79204 1.26256E-5 39602 0 4.09229E-6
11-17498252-G-A p.Asn24Asn synonymous ABCC8 4 79228 5.04872E-5 39614 0 1.03694E-5
11-17498261-G-A p.Val21Val synonymous ABCC8 1 79132 1.26371E-5 39566 0 NA
11-17498279-G-A p.Tyr15Tyr synonymous ABCC8 4 78890 5.07035E-5 39445 0 1.27689E-4
11-17498288-C-A p.Ser12Ser synonymous ABCC8 1 78708 1.27052E-5 39354 0 1.54904E-5
11-17498300-G-A p.Ser8Ser synonymous ABCC8 1 78358 1.27619E-5 39179 0 NA
11-17498305-C-T p.Gly7Ser missense ABCC8 1 78274 1.27756E-5 39137 0 5.04495E-6
11-17498316-A-C p.Leu3Arg missense ABCC8 1 78040 1.28139E-5 39020 0 NA
11-17498320-G-T p.Pro2Thr missense ABCC8 2 77866 2.56852E-5 38933 0 6.41849E-5
11-17498338-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain ABCC8 1 77182 1.29564E-5 38591 0 NA
11-17498380-C-A c.-57G>T 5_prime_UTR_premature_start_codon_gain ABCC8 3 73046 4.107E-5 36523 0 6.22665E-4
11-17498381-T-A c.-58A>T 5_prime_UTR_premature_start_codon_gain ABCC8 5 72976 6.85157E-5 36488 0 6.73522E-5
11-17498403-G-A c.-80C>T 5_prime_UTR_premature_start_codon_gain ABCC8 1 64606 1.54784E-5 32303 0 NA
11-17498407-C-A c.-84G>T 5_prime_UTR_premature_start_codon_gain ABCC8 1 63672 1.57055E-5 31836 0 NA
11-17498414-C-A c.-91G>T 5_prime_UTR_premature_start_codon_gain ABCC8 1 62930 1.58907E-5 31465 0 2.03087E-4
11-17498424-G-A c.-101C>T 5_prime_UTR_premature_start_codon_gain ABCC8 5 61828 8.08695E-5 30914 0 NA
11-17498434-C-A c.-111G>T 5_prime_UTR_premature_start_codon_gain ABCC8 1 60414 1.65525E-5 30207 0 NA
11-17498442-G-A c.-119C>T 5_prime_UTR_premature_start_codon_gain ABCC8 2 58808 3.4009E-5 29404 0 6.61419E-5