Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-16243984-CCTGGCT-C p.Ter1504delins??? stop_lost ABCC6 2 63950 3.12744E-5 31975 0 1.74104E-5
16-16243996-C-G p.Leu1502Leu synonymous ABCC6 3 64204 4.67261E-5 32102 0 NA
16-16244020-G-A p.Tyr1494Tyr synonymous ABCC6 1 64452 1.55154E-5 32226 0 NA
16-16244025-A-G p.Phe1493Leu missense ABCC6 1 64474 1.55101E-5 32237 0 3.60222E-5
16-16244029-G-A p.Gly1491Gly synonymous ABCC6 4 64438 6.20752E-5 32219 0 5.04541E-4
16-16244030-C-T p.Gly1491Asp missense ABCC6 2 64480 3.10174E-5 32240 0 NA
16-16244044-C-G p.Leu1486Leu synonymous ABCC6 1 64476 1.55096E-5 32238 0 3.18532E-5
16-16244054-G-A p.Pro1483Leu missense ABCC6 6 64542 9.29627E-5 32271 0 6.25782E-4
16-16244057-C-G p.Ser1482Thr missense ABCC6 1 64674 1.54622E-5 32337 0 NA
16-16244062-G-T p.Ser1480Arg missense ABCC6 1 64694 1.54574E-5 32347 0 NA
16-16244077-C-T p.Gly1475Gly synonymous ABCC6 36 64722 5.56225E-4 32361 0 0.00149701
16-16244097-C-T p.Val1469Ile missense+splice_region ABCC6 1 64516 1.55E-5 32258 0 1.69173E-5
16-16244103-G-T c.4404-5C>A splice_region ABCC6 2 64404 3.1054E-5 32202 0 3.18451E-5
16-16244104-G-T c.4404-6C>A splice_region ABCC6 2 64392 3.10598E-5 32196 0 NA
16-16244435-C-T p.Arg1468Gln missense+splice_region ABCC6 2 61570 3.24834E-5 30785 0 3.18593E-5
16-16244436-G-A p.Arg1468Trp missense+splice_region ABCC6 1 61466 1.62692E-5 30733 0 6.37105E-5
16-16244436-G-C p.Arg1468Gly missense+splice_region ABCC6 1 61466 1.62692E-5 30733 0 8.94039E-6
16-16244440-A-G p.Cys1466Cys synonymous ABCC6 2 61554 3.24918E-5 30777 0 1.77996E-5
16-16244447-A-G p.Met1464Thr missense ABCC6 6 61690 9.72605E-5 30845 0 1.77098E-5
16-16244454-A-C p.Ser1462Ala missense ABCC6 1 61594 1.62353E-5 30797 0 1.76392E-5
16-16244456-C-T p.Arg1461His missense ABCC6 1 61474 1.6267E-5 30737 0 4.44495E-5
16-16244461-G-C p.Arg1459Arg synonymous ABCC6 3 61632 4.8676E-5 30816 0 6.25E-4
16-16244462-C-T p.Arg1459His missense ABCC6 2 61530 3.25045E-5 30765 0 6.37308E-5
16-16244463-G-A p.Arg1459Cys missense ABCC6 2 61606 3.24644E-5 30803 0 3.18593E-5
16-16244464-G-A p.His1458His synonymous ABCC6 14 61640 2.27125E-4 30820 0 2.86661E-4
16-16244473-G-A p.Leu1455Leu synonymous ABCC6 1 61762 1.61912E-5 30881 0 NA
16-16244498-C-G p.Trp1447Ser missense ABCC6 1 62134 1.60942E-5 31067 0 4.02515E-6
16-16244506-G-A p.Leu1444Leu synonymous ABCC6 10 62346 1.60395E-4 31173 0 0.0015121
16-16244510-A-G p.Met1443Thr missense ABCC6 1 62582 1.5979E-5 31291 0 4.02223E-6
16-16244530-C-T p.Thr1436Thr synonymous ABCC6 4 63108 6.33834E-5 31554 0 4.82362E-5
16-16244544-C-T p.Val1432Met missense ABCC6 1 63566 1.57317E-5 31783 0 9.55657E-5
16-16244552-G-A p.Thr1429Ile missense ABCC6 1 63660 1.57085E-5 31830 0 NA
16-16244560-G-A p.Asp1426Asp synonymous ABCC6 12 63774 1.88164E-4 31887 0 2.22902E-4
16-16244584-C-T p.Arg1418Arg synonymous ABCC6 487 63940 0.00761652 31970 5 0.00818211
16-16244585-C-T p.Arg1418Gln missense ABCC6 2 63960 3.12695E-5 31980 0 5.04032E-4
16-16244586-G-A p.Arg1418Trp missense ABCC6 2 63990 3.12549E-5 31995 0 0.00100806
16-16244597-C-T p.Arg1414His missense ABCC6 1 63874 1.56558E-5 31937 0 3.18552E-5
16-16244598-G-T p.Arg1414Ser missense ABCC6 3 63842 4.6991E-5 31921 0 0.0075
16-16244598-G-A p.Arg1414Cys missense ABCC6 4 63842 6.26547E-5 31921 0 1.75242E-5
16-16244612-A-T p.Leu1409His missense ABCC6 1 63552 1.57351E-5 31776 0 1.07162E-4
16-16244620-C-G p.Gln1406His missense ABCC6 2 63274 3.16086E-5 31637 0 1.20585E-5
16-16244625-C-T p.Gly1405Ser missense ABCC6 1 62916 1.58942E-5 31458 0 NA
16-16244628-C-T p.Val1404Met missense+splice_region ABCC6 5 62736 7.96991E-5 31368 0 9.31584E-5
16-16244629-G-A p.Ser1403Ser splice_region+synonymous ABCC6 2 62636 3.19305E-5 31318 0 4.03096E-6
16-16244631-T-TCAGGTCCTCGCCTCGGTCAGCACACTTGTACTGCA c.4209-3_4209-2insTGCAGTACAAGTGTGCTGACCGAGGCGAGGACCTG splice_region ABCC6 1 62562 1.59841E-5 31281 0 NA
16-16244632-G-A c.4209-3C>T splice_region ABCC6 1 62452 1.60123E-5 31226 0 4.04521E-6
16-16244637-C-T c.4209-8G>A splice_region ABCC6 1 61944 1.61436E-5 30972 0 3.18492E-5
16-16248477-G-A c.4208+8C>T splice_region ABCC6 26 79574 3.2674E-4 39787 0 5.21213E-4
16-16248495-C-T p.Glu1400Lys missense ABCC6 1 80524 1.24187E-5 40262 0 4.02424E-5
16-16248500-C-T p.Arg1398Gln missense ABCC6 18 80902 2.22491E-4 40451 0 6.25E-4
16-16248501-G-A p.Arg1398* stop_gained ABCC6 1 80980 1.23487E-5 40490 0 2.00829E-5
16-16248510-AC-A p.Lys1394fs frameshift ABCC6 1 81450 1.22775E-5 40725 0 5.21176E-5
16-16248512-T-C p.Lys1394Arg missense ABCC6 1 81562 1.22606E-5 40781 0 NA
16-16248517-C-T p.Gln1392Gln synonymous ABCC6 8 81676 9.7948E-5 40838 0 1.27462E-4
16-16248521-A-AGCTGGCCGGGCAG p.Leu1391fs frameshift ABCC6 2 81772 2.44582E-5 40886 0 8.60793E-6
16-16248528-C-T p.Gly1389Ser missense ABCC6 2 81910 2.4417E-5 40955 0 6.25E-4
16-16248529-G-C p.Pro1388Pro synonymous ABCC6 3 81984 3.65925E-5 40992 0 3.18918E-5
16-16248529-G-A p.Pro1388Pro synonymous ABCC6 1 81984 1.21975E-5 40992 0 NA
16-16248535-G-C p.Ser1386Arg missense ABCC6 1 82048 1.2188E-5 41024 0 NA
16-16248542-A-G p.Val1384Ala missense ABCC6 2 82208 2.43285E-5 41104 0 1.72571E-5
16-16248562-C-G p.Thr1377Thr synonymous ABCC6 1 82400 1.21359E-5 41200 0 8.72494E-6
16-16248563-G-A p.Thr1377Met missense ABCC6 4 82392 4.85484E-5 41196 0 3.1904E-5
16-16248584-G-T p.Ala1370Asp missense ABCC6 3 82222 3.64866E-5 41111 0 NA
16-16248586-C-T p.Glu1369Glu synonymous ABCC6 1 82216 1.21631E-5 41108 0 NA
16-16248588-C-T p.Glu1369Lys missense ABCC6 21 82168 2.55574E-4 41084 0 2.55151E-4
16-16248588-CG-C p.Asp1368fs frameshift ABCC6 1 82168 1.21702E-5 41084 0 3.18939E-5
16-16248589-G-A p.Asp1368Asp synonymous ABCC6 4 82150 4.86914E-5 41075 0 8.84728E-5
16-16248592-C-T p.Ser1367Ser synonymous ABCC6 4 82118 4.87104E-5 41059 0 9.24391E-4
16-16248592-C-G p.Ser1367Ser synonymous ABCC6 1 82118 1.21776E-5 41059 0 2.70129E-5
16-16248608-A-G p.Leu1362Pro missense ABCC6 1 81904 1.22094E-5 40952 0 NA
16-16248612-C-T p.Asp1361Asn missense ABCC6 1 81780 1.22279E-5 40890 0 3.18898E-5
16-16248613-G-A p.Leu1360Leu synonymous ABCC6 1 81774 1.22288E-5 40887 0 8.10754E-6
16-16248623-C-T p.Arg1357Gln missense ABCC6 4 81556 4.90461E-5 40778 0 0.00151057
16-16248624-G-A p.Arg1357Trp missense ABCC6 2 81510 2.45369E-5 40755 0 0.00100705
16-16248650-TCCTGGCGGGGAGGGGCGGTGGGTCAGAGCCGGGTCCCACCATGCCTCCCATCTTTGCCCACCCCCTCCACCAGCCTCA-T p.Asp1348fs frameshift ABCC6 3 80970 3.70508E-5 40485 1 NA
16-16248655-G-A c.4042-4C>T splice_region ABCC6 2 80868 2.47317E-5 40434 0 NA
16-16248656-C-T c.4042-5G>A splice_region ABCC6 2 80784 2.47574E-5 40392 0 7.26986E-5
16-16248657-G-A c.4042-6C>T splice_region ABCC6 4 80984 4.93925E-5 40492 0 2.02943E-5
16-16248659-G-C c.4042-8C>G splice_region ABCC6 1 80984 1.23481E-5 40492 0 4.17617E-6
16-16248729-C-T c.4041+1G>A splice_donor ABCC6 1 81418 1.22823E-5 40709 0 NA
16-16248730-C-T p.Gln1347Gln splice_region+synonymous ABCC6 1 81470 1.22745E-5 40735 0 1.02419E-5
16-16248746-A-G p.Ile1342Thr missense ABCC6 1 81570 1.22594E-5 40785 0 8.15395E-6
16-16248748-C-T p.Arg1341Arg synonymous ABCC6 1 81562 1.22606E-5 40781 0 NA
16-16248755-C-T p.Arg1339His missense ABCC6 3 81466 3.68252E-5 40733 0 0.00100908
16-16248756-G-A p.Arg1339Cys missense ABCC6 2 81504 2.45387E-5 40752 0 1.02548E-4
16-16248756-G-T p.Arg1339Ser missense ABCC6 1 81504 1.22693E-5 40752 0 1.13942E-5
16-16248760-T-C p.Thr1337Thr synonymous ABCC6 5 81506 6.13452E-5 40753 0 2.47188E-5
16-16248763-G-A p.His1336His synonymous ABCC6 2 81522 2.45333E-5 40761 0 5.85782E-5
16-16248766-C-T p.Leu1335Leu synonymous ABCC6 1 81480 1.2273E-5 40740 0 4.99309E-5
16-16248767-A-T p.Leu1335Gln missense ABCC6 1 81480 1.2273E-5 40740 0 NA
16-16248768-G-A p.Leu1335Leu synonymous ABCC6 1 81440 1.2279E-5 40720 0 NA
16-16248769-C-G p.Gly1334Gly synonymous ABCC6 25 81428 3.0702E-4 40714 0 0.00100806
16-16248769-C-A p.Gly1334Gly synonymous ABCC6 2 81430 2.4561E-5 40715 0 4.17805E-6
16-16248773-A-G p.Val1333Ala missense ABCC6 1 81452 1.22772E-5 40726 0 NA
16-16248774-C-T p.Val1333Met missense ABCC6 3 81384 3.68623E-5 40692 0 3.86419E-5
16-16248775-G-C p.His1332Gln missense ABCC6 1 81394 1.22859E-5 40697 0 8.04417E-5
16-16248775-G-A p.His1332His synonymous ABCC6 3 81394 3.68578E-5 40697 1 1.27013E-5
16-16248782-A-G p.Ile1330Thr missense ABCC6 2 81414 2.45658E-5 40707 0 5.04541E-4
16-16248791-C-T p.Gly1327Glu missense ABCC6 175 81344 0.00215136 40672 0 0.00364194
16-16248792-C-T p.Gly1327Arg missense ABCC6 4 81296 4.92029E-5 40648 0 5.05051E-4
16-16248793-G-A p.Asp1326Asp synonymous ABCC6 21 81260 2.5843E-4 40630 0 0.00151515
16-16248793-G-C p.Asp1326Glu missense ABCC6 1 81262 1.23059E-5 40631 0 NA
16-16248795-C-T p.Asp1326Asn missense ABCC6 1 81242 1.23089E-5 40621 0 1.77841E-5
16-16248796-G-A p.Ile1325Ile synonymous ABCC6 3 81224 3.69349E-5 40612 0 1.816E-5
16-16248798-T-C p.Ile1325Val missense ABCC6 1 81228 1.2311E-5 40614 0 NA
16-16248800-C-T p.Trp1324* stop_gained ABCC6 1 81252 1.23074E-5 40626 0 NA
16-16248807-C-T p.Gly1322Arg missense ABCC6 1 81166 1.23204E-5 40583 0 NA
16-16248816-C-A p.Ala1319Ser missense ABCC6 1 81112 1.23286E-5 40556 0 5.01958E-6
16-16248828-G-A p.Leu1315Phe missense ABCC6 1 81082 1.23332E-5 40541 0 NA
16-16248830-C-T p.Arg1314Gln missense ABCC6 8 81076 9.86728E-5 40538 0 3.779E-5
16-16248831-G-A p.Arg1314Trp missense ABCC6 36 81058 4.44126E-4 40529 0 8.61409E-4
16-16248832-C-T p.Leu1313Leu synonymous ABCC6 3 81066 3.70069E-5 40533 0 1.2213E-4
16-16248832-C-A p.Leu1313Leu synonymous ABCC6 1 81066 1.23356E-5 40533 0 5.44022E-6
16-16248846-C-T p.Ala1309Thr missense ABCC6 1 80916 1.23585E-5 40458 0 5.70731E-6
16-16248863-G-T p.Ala1303Glu missense ABCC6 1 80718 1.23888E-5 40359 0 NA
16-16248864-C-T p.Ala1303Thr missense ABCC6 1 80688 1.23934E-5 40344 0 4.09031E-5
16-16248867-C-T p.Gly1302Arg missense ABCC6 5 80674 6.19778E-5 40337 0 0.00355691
16-16248868-G-A p.Thr1301Thr synonymous ABCC6 12 80636 1.48817E-4 40318 0 2.97974E-4
16-16248871-C-T p.Arg1300Arg synonymous ABCC6 1 80574 1.2411E-5 40287 0 NA
16-16248879-C-T p.Val1298Ile missense ABCC6 20 80478 2.48515E-4 40239 0 4.78377E-4
16-16248884-C-T p.Gly1296Asp missense ABCC6 1 80370 1.24425E-5 40185 0 9.77517E-5
16-16248886-C-T p.Val1295Val splice_region+synonymous ABCC6 1 80336 1.24477E-5 40168 0 4.90822E-5
16-16248890-T-TTCTCTCCTGCGTGGATCTTGAAGGACAC c.3883-3_3883-2insGTGTCCTTCAAGATCCACGCAGGAGAGA splice_region ABCC6 1 80236 1.24632E-5 40118 0 NA
16-16248891-G-A c.3883-3C>T splice_region ABCC6 1 80170 1.24735E-5 40085 0 6.48879E-6
16-16248894-C-T c.3883-6G>A splice_region ABCC6 3 80144 3.74326E-5 40072 0 5.20339E-5
16-16248895-G-A c.3883-7C>T splice_region ABCC6 35 80080 4.37063E-4 40040 0 0.00106262
16-16248896-G-T c.3883-8C>A splice_region ABCC6 3 80034 3.74841E-5 40017 0 5.22521E-5
16-16248896-G-C c.3883-8C>G splice_region ABCC6 1 80034 1.24947E-5 40017 0 NA
16-16251515-C-T c.3882+5G>A splice_region ABCC6 6 82970 7.23153E-5 41485 0 1.59397E-5
16-16251516-T-A c.3882+4A>T splice_region ABCC6 2 82976 2.41034E-5 41488 0 3.18695E-5
16-16251519-CCTT-C p.Lys1294del conservative_inframe_deletion ABCC6 4 83008 4.81881E-5 41504 0 2.49808E-5
16-16251520-C-T p.Lys1294Lys splice_region+synonymous ABCC6 1 83042 1.20421E-5 41521 0 8.32695E-6
16-16251531-C-T p.Ala1291Thr missense ABCC6 1044 83126 0.0125592 41563 32 0.0243591
16-16251532-G-A p.His1290His synonymous ABCC6 1 83150 1.20265E-5 41575 0 6.37471E-5
16-16251549-C-T p.Val1285Met missense ABCC6 12 83234 1.44172E-4 41617 0 3.18878E-5
16-16251550-G-A p.Gly1284Gly synonymous ABCC6 98 83234 0.0011774 41617 2 0.0022968
16-16251565-C-T p.Pro1279Pro synonymous ABCC6 7 83240 8.40942E-5 41620 0 9.93558E-5
16-16251566-G-A p.Pro1279Leu missense ABCC6 2 83228 2.40304E-5 41614 0 1.27657E-4
16-16251570-G-A p.Leu1278Phe missense ABCC6 1 83224 1.20158E-5 41612 0 NA
16-16251576-G-A p.Pro1276Ser missense ABCC6 2 83212 2.4035E-5 41606 0 3.31093E-5
16-16251580-G-A p.Tyr1274Tyr synonymous ABCC6 2 83198 2.4039E-5 41599 0 6.3804E-5
16-16251582-A-G p.Tyr1274His missense ABCC6 1 83198 1.20195E-5 41599 0 3.19101E-5
16-16251589-C-A p.Gly1271Gly synonymous ABCC6 1 83188 1.2021E-5 41594 0 3.98054E-6
16-16251593-A-G p.Phe1270Ser missense ABCC6 1 83168 1.20239E-5 41584 0 6.38529E-5
16-16251598-C-T p.Arg1268Arg synonymous ABCC6 3 83168 3.60716E-5 41584 0 3.18817E-5
16-16251599-C-T p.Arg1268Gln missense ABCC6 19080 82784 0.230479 41392 2365 0.249751
16-16251600-G-A p.Arg1268Trp missense ABCC6 15 83166 1.80362E-4 41583 0 5.03525E-4
16-16251606-C-T p.Glu1266Lys missense ABCC6 6 83126 7.21796E-5 41563 0 6.37674E-5
16-16251607-G-A p.Ile1265Ile synonymous ABCC6 3 83120 3.60924E-5 41560 0 9.56999E-5
16-16251615-C-T p.Gly1263Arg missense ABCC6 2 83062 2.40784E-5 41531 0 6.3804E-5
16-16251616-G-A p.Gly1262Gly synonymous ABCC6 6 83048 7.22474E-5 41524 0 6.25E-4
16-16251619-C-T p.Gln1261Gln synonymous ABCC6 1 83034 1.20433E-5 41517 0 NA
16-16251624-G-C p.Pro1260Ala missense ABCC6 6 82992 7.22961E-5 41496 0 1.91436E-4
16-16251626-CA-C p.Trp1259fs frameshift ABCC6 5 82970 6.02627E-5 41485 0 9.23129E-5
16-16251627-A-AG p.Trp1259fs frameshift ABCC6 3 82960 3.6162E-5 41480 0 3.19326E-5
16-16251629-G-T p.Pro1258His missense ABCC6 1 82936 1.20575E-5 41468 0 NA
16-16251629-G-C p.Pro1258Arg missense ABCC6 1 82936 1.20575E-5 41468 0 NA
16-16251632-G-T p.Pro1257His missense ABCC6 5 82906 6.03093E-5 41453 0 6.72947E-5
16-16251632-G-A p.Pro1257Leu missense ABCC6 3 82906 3.61856E-5 41453 0 NA
16-16251644-C-T p.Cys1253Tyr missense ABCC6 2 82772 2.41628E-5 41386 0 NA
16-16251644-C-A p.Cys1253Phe missense ABCC6 1 82774 1.20811E-5 41387 0 NA
16-16251647-G-A p.Thr1252Ile missense ABCC6 4 82734 4.83477E-5 41367 0 0.001875
16-16251647-G-C p.Thr1252Arg missense ABCC6 3 82734 3.62608E-5 41367 0 0.0020202
16-16251651-G-A p.Pro1251Ser missense ABCC6 2 82656 2.41967E-5 41328 0 9.3831E-5
16-16251663-G-A p.Pro1247Ser missense ABCC6 1 82444 1.21294E-5 41222 0 1.21753E-5
16-16251663-G-T p.Pro1247Thr missense ABCC6 1 82442 1.21297E-5 41221 0 6.25E-4
16-16251670-G-A c.3736-4C>T splice_region ABCC6 1 82268 1.21554E-5 41134 0 NA
16-16251672-G-A c.3736-6C>T splice_region ABCC6 1 82180 1.21684E-5 41090 0 NA
16-16253342-C-T p.Lys1244Lys synonymous ABCC6 4 82992 4.81974E-5 41496 0 3.98105E-6
16-16253348-C-G p.Thr1242Thr synonymous ABCC6 2 83012 2.40929E-5 41506 0 NA
16-16253349-G-A p.Thr1242Met missense ABCC6 8 83032 9.63484E-5 41516 0 7.16543E-5
16-16253351-C-G p.Trp1241Cys missense ABCC6 4 83086 4.81429E-5 41543 0 1.59193E-5
16-16253355-G-A p.Ala1240Val missense ABCC6 2 83118 2.40622E-5 41559 0 NA
16-16253370-C-T p.Arg1235Gln missense ABCC6 3 83230 3.60447E-5 41615 0 4.95319E-5
16-16253371-G-A p.Arg1235Trp missense ABCC6 1 83226 1.20155E-5 41613 0 5.03525E-4
16-16253376-A-G p.Val1233Ala missense ABCC6 3 83242 3.60395E-5 41621 0 8.25396E-6
16-16253383-C-T p.Val1231Met missense ABCC6 4 83254 4.80457E-5 41627 0 0.00100705
16-16253384-G-A p.Ile1230Ile synonymous ABCC6 7 83252 8.40821E-5 41626 0 9.90475E-5
16-16253386-T-C p.Ile1230Val missense ABCC6 1 83262 1.20103E-5 41631 0 NA
16-16253387-G-A p.Ser1229Ser synonymous ABCC6 1 83266 1.20097E-5 41633 0 NA
16-16253388-C-T p.Ser1229Asn missense ABCC6 4 83264 4.804E-5 41632 0 NA
16-16253404-T-C p.Thr1224Ala missense ABCC6 1 83272 1.20088E-5 41636 0 NA
16-16253412-C-T p.Arg1221His missense ABCC6 2 83258 2.40217E-5 41629 0 3.30431E-5
16-16253413-G-A p.Arg1221Cys missense ABCC6 1 83254 1.20114E-5 41627 0 3.18817E-5
16-16253414-A-G p.Val1220Val synonymous ABCC6 1 83256 1.20111E-5 41628 0 8.26228E-6
16-16253420-C-A p.Trp1218Cys missense ABCC6 1 83238 1.20137E-5 41619 0 6.25E-4
16-16253430-G-A p.Thr1215Ile missense ABCC6 5 83180 6.01106E-5 41590 0 3.15076E-4
16-16253435-G-A p.Thr1213Thr synonymous ABCC6 1 83134 1.20288E-5 41567 0 4.98994E-5
16-16253439-A-C p.Val1212Gly missense+splice_region ABCC6 2 83098 2.4068E-5 41549 0 NA
16-16253443-G-T c.3634-3C>A splice_region ABCC6 3 83086 3.61072E-5 41543 0 2.50719E-5
16-16253444-G-A c.3634-4C>T splice_region ABCC6 1 83084 1.2036E-5 41542 0 3.34896E-5
16-16253444-G-GAGGGCAGCAGAGACAGAGAAGCCCACGAGGCCAGCAC c.3634-5_3634-4insGTGCTGGCCTCGTGGGCTTCTCTGTCTCTGCTGCCCT splice_region ABCC6 1 83084 1.2036E-5 41542 0 NA
16-16255290-A-T c.3633+5T>A splice_region ABCC6 1 82604 1.2106E-5 41302 0 NA
16-16255300-G-C p.Leu1210Val missense ABCC6 1 82752 1.20843E-5 41376 0 8.33097E-6
16-16255310-G-A p.Val1206Val synonymous ABCC6 1 82796 1.20779E-5 41398 0 NA
16-16255312-C-T p.Val1206Ile missense ABCC6 4 82804 4.83068E-5 41402 0 2.497E-5
16-16255324-C-T p.Val1202Met missense ABCC6 2 82816 2.41499E-5 41408 0 4.16008E-5
16-16255324-C-A p.Val1202Leu missense ABCC6 1 82816 1.2075E-5 41408 0 3.98622E-6
16-16255326-A-G p.Leu1201Pro missense ABCC6 1 82842 1.20712E-5 41421 0 NA
16-16255328-G-A p.Gly1200Gly synonymous ABCC6 4 82814 4.8301E-5 41407 0 3.18492E-5
16-16255328-GCCAGCACTGAGGTGGGCTTTGCTCAGCA-G p.Val1191fs frameshift ABCC6 1 82814 1.20753E-5 41407 0 NA
16-16255331-A-G p.Ala1199Ala synonymous ABCC6 1 82816 1.2075E-5 41408 0 3.98562E-6
16-16255333-C-T p.Ala1199Thr missense ABCC6 1 82798 1.20776E-5 41399 0 3.98552E-6
16-16255335-C-T p.Ser1198Asn missense ABCC6 1 82818 1.20747E-5 41409 0 6.25E-4
16-16255336-T-C p.Ser1198Gly missense ABCC6 1 82828 1.20732E-5 41414 0 3.18512E-5
16-16255340-G-T p.His1196Gln missense ABCC6 1 82812 1.20755E-5 41406 0 1.59443E-5
16-16255361-A-G p.Cys1189Cys synonymous ABCC6 2 82832 2.41453E-5 41416 0 4.158E-5
16-16255364-C-T p.Thr1188Thr synonymous ABCC6 18 82802 2.17386E-4 41401 0 0.005
16-16255371-G-T p.Ala1186Asp missense ABCC6 6 82794 7.2469E-5 41397 0 1.27437E-4
16-16255371-G-C p.Ala1186Gly missense ABCC6 1 82794 1.20782E-5 41397 0 3.98565E-6
16-16255380-A-C p.Val1183Gly missense ABCC6 1 82752 1.20843E-5 41376 0 2.7898E-5
16-16255385-G-A p.Gly1181Gly synonymous ABCC6 1 82734 1.20869E-5 41367 0 3.98556E-6
16-16255386-C-T p.Gly1181Asp missense ABCC6 1 82720 1.2089E-5 41360 0 3.18695E-5
16-16255404-A-G p.Val1175Ala missense ABCC6 4 82526 4.84696E-5 41263 0 1.16686E-4
16-16255413-G-A p.Ala1172Val missense ABCC6 1 82220 1.21625E-5 41110 0 0.0015121
16-16255418-C-T p.Trp1170* stop_gained ABCC6 1 82140 1.21743E-5 41070 0 3.18492E-5
16-16255419-C-T p.Trp1170* stop_gained ABCC6 1 82112 1.21785E-5 41056 0 NA
16-16255424-G-A c.3507-3C>T splice_region ABCC6 1305 81792 0.0159551 40896 18 0.020625
16-16256861-C-T p.Leu1165Leu synonymous ABCC6 2 83252 2.40234E-5 41626 0 3.58178E-5
16-16256865-C-T p.Arg1164Gln missense ABCC6 1 83250 1.2012E-5 41625 0 0.00125
16-16256866-G-A p.Arg1164* stop_gained ABCC6 8 83246 9.61007E-5 41623 0 1.67142E-4
16-16256867-C-T p.Pro1163Pro synonymous ABCC6 4 83254 4.80457E-5 41627 0 6.36709E-5
16-16256879-C-T p.Arg1159Arg synonymous ABCC6 3 83258 3.60326E-5 41629 0 0.00100705
16-16256880-C-T p.Arg1159Lys missense ABCC6 1 83258 1.20109E-5 41629 0 NA
16-16256884-G-C p.Gln1158Glu missense ABCC6 1 83256 1.20111E-5 41628 0 NA
16-16256891-A-G p.Asp1155Asp synonymous ABCC6 1 83232 1.20146E-5 41616 0 3.18573E-5
16-16256894-T-C p.Val1154Val synonymous ABCC6 1 83234 1.20143E-5 41617 0 NA
16-16256895-A-G p.Val1154Ala missense ABCC6 7 83228 8.41063E-5 41614 0 0.00125
16-16256896-C-T p.Val1154Ile missense ABCC6 5 83228 6.00759E-5 41614 0 5.03525E-4
16-16256897-G-A p.Arg1153Arg synonymous ABCC6 162 83208 0.00194693 41604 1 0.0036938
16-16256898-C-T p.Arg1153His missense ABCC6 5 83218 6.00832E-5 41609 0 0.00151057
16-16256899-G-A p.Arg1153Cys missense ABCC6 5 83220 6.00817E-5 41610 0 6.36943E-5
16-16256905-T-G p.Asn1151His missense ABCC6 2 83206 2.40367E-5 41603 0 NA
16-16256924-G-A p.Ala1144Ala synonymous ABCC6 1 83154 1.20259E-5 41577 0 NA
16-16256925-G-A p.Ala1144Val missense ABCC6 6 83142 7.21657E-5 41571 0 1.40287E-4
16-16256934-C-T p.Arg1141Gln missense ABCC6 17 83120 2.04524E-4 41560 0 6.25E-4
16-16256935-G-A p.Arg1141* stop_gained ABCC6 99 83116 0.00119111 41558 0 0.00141268
16-16256939-T-C p.Ala1139Ala synonymous ABCC6 2 83098 2.4068E-5 41549 0 3.30262E-5
16-16256941-C-T p.Ala1139Thr missense ABCC6 7 83078 8.42582E-5 41539 0 5.17364E-5
16-16256942-C-G p.Arg1138Arg synonymous ABCC6 2 83078 2.40738E-5 41539 0 NA
16-16256943-C-T p.Arg1138Gln missense ABCC6 8 83072 9.6302E-5 41536 0 6.25E-4
16-16256944-G-A p.Arg1138Trp missense ABCC6 2 83060 2.4079E-5 41530 0 8.25927E-5
16-16256945-G-C p.Val1137Val synonymous ABCC6 1 83038 1.20427E-5 41519 0 8.25887E-6
16-16256952-G-C p.Thr1135Arg missense ABCC6 1 83014 1.20462E-5 41507 0 3.18492E-5
16-16256956-T-G p.Ser1134Arg missense ABCC6 2 82998 2.4097E-5 41499 0 NA
16-16256966-C-T p.Thr1130Thr synonymous ABCC6 2 82966 2.41063E-5 41483 0 6.36983E-5
16-16256967-G-A p.Thr1130Met missense ABCC6 9 82962 1.08483E-4 41481 0 6.76811E-5
16-16256971-C-G p.Glu1129Gln missense ABCC6 2 82964 2.41068E-5 41482 0 3.98124E-6
16-16256975-C-T p.Met1127Ile missense ABCC6 2 82922 2.41191E-5 41461 0 8.27253E-6
16-16256977-T-C p.Met1127Val missense ABCC6 1 82918 1.20601E-5 41459 0 8.27321E-6
16-16256981-G-A p.Ser1125Ser synonymous ABCC6 4 82896 4.82532E-5 41448 0 9.55475E-5
16-16256993-C-T p.Ser1121Ser synonymous ABCC6 1 82836 1.2072E-5 41418 0 1.59246E-4
16-16257009-T-C p.Glu1116Gly missense ABCC6 1 82698 1.20922E-5 41349 0 NA
16-16257010-C-A p.Glu1116* stop_gained ABCC6 2 82684 2.41885E-5 41342 0 NA
16-16257014-G-A p.Arg1114Arg synonymous ABCC6 1 82682 1.20945E-5 41341 0 8.31532E-6
16-16257015-C-T p.Arg1114His missense ABCC6 3 82662 3.62924E-5 41331 0 6.36983E-5
16-16257016-G-A p.Arg1114Cys missense ABCC6 9 82660 1.0888E-4 41330 0 9.98469E-5
16-16257030-G-A p.Ser1109Leu missense ABCC6 2 82448 2.42577E-5 41224 0 NA
16-16257036-A-G p.Val1107Ala missense ABCC6 4 82282 4.86133E-5 41141 0 0.00125
16-16257038-C-A p.Val1106Val synonymous ABCC6 2 82248 2.43167E-5 41124 0 NA
16-16257050-C-T c.3307-1G>A splice_acceptor ABCC6 1 81738 1.22342E-5 40869 0 NA
16-16257054-G-A c.3307-5C>T splice_region ABCC6 3 81542 3.67909E-5 40771 0 1.71186E-5
16-16257055-A-G c.3307-6T>C splice_region ABCC6 3 81486 3.68161E-5 40743 0 2.57347E-5
16-16259475-C-T c.3306+5G>A splice_region ABCC6 10 82600 1.21065E-4 41300 0 1.12087E-4
16-16259476-G-A c.3306+4C>T splice_region ABCC6 1 82632 1.21018E-5 41316 0 6.37552E-5
16-16259491-C-T p.Ala1099Thr missense ABCC6 3 82790 3.62363E-5 41395 0 1.19872E-5
16-16259492-G-A p.Tyr1098Tyr synonymous ABCC6 2 82800 2.41546E-5 41400 0 5.04032E-4
16-16259497-G-T p.Leu1097Ile missense ABCC6 405 82848 0.00488847 41424 4 0.0131048
16-16259504-C-T p.Leu1094Leu synonymous ABCC6 2 82894 2.41272E-5 41447 0 8.51209E-6
16-16259511-A-G p.Leu1092Pro missense ABCC6 1 82888 1.20645E-5 41444 0 NA
16-16259517-G-A p.Ala1090Val missense ABCC6 1 82606 1.21057E-5 41303 0 NA
16-16259523-G-T p.Thr1088Asn missense ABCC6 1 82528 1.21171E-5 41264 0 NA
16-16259535-G-T p.Thr1084Asn missense ABCC6 3 82670 3.62889E-5 41335 0 0.0120846
16-16259554-G-A p.Leu1078Leu synonymous ABCC6 1 83116 1.20314E-5 41558 0 NA
16-16259560-C-A p.Val1076Phe missense ABCC6 2 83152 2.40523E-5 41576 0 6.36943E-5
16-16259572-C-G p.Gly1072Arg missense ABCC6 2 83228 2.40304E-5 41614 0 NA
16-16259578-C-T p.Ala1070Thr missense ABCC6 6 83256 7.20669E-5 41628 1 3.32116E-5
16-16259579-G-A p.Tyr1069Tyr synonymous ABCC6 420 83238 0.00504577 41619 4 0.00465294
16-16259584-T-C p.Met1068Val missense ABCC6 1 83276 1.20083E-5 41638 0 NA
16-16259595-C-T p.Arg1064Gln missense ABCC6 3 83284 3.60213E-5 41642 0 6.37186E-5
16-16259596-G-A p.Arg1064Trp missense ABCC6 1640 83266 0.0196959 41633 28 0.02125
16-16259602-T-C p.Lys1062Glu missense ABCC6 2 83310 2.40067E-5 41655 0 8.28432E-6
16-16259617-C-T p.Val1057Met missense ABCC6 3 83328 3.60023E-5 41664 0 6.25E-4
16-16259618-G-A p.Asp1056Asp synonymous ABCC6 20 83322 2.40033E-4 41661 0 5.03525E-4
16-16259621-A-C p.Val1055Val synonymous ABCC6 1 83326 1.20011E-5 41663 0 8.28308E-6
16-16259622-A-T p.Val1055Asp missense ABCC6 1 83334 1.19999E-5 41667 0 NA
16-16259624-C-T p.Thr1054Thr synonymous ABCC6 2 83324 2.40027E-5 41662 0 6.37227E-5
16-16259625-G-A p.Thr1054Met missense ABCC6 1 83322 1.20016E-5 41661 0 3.31318E-5
16-16259627-G-T p.Asp1053Glu missense ABCC6 3 83324 3.6004E-5 41662 0 2.38785E-5
16-16259627-G-C p.Asp1053Glu missense ABCC6 5 83324 6.00067E-5 41662 0 3.14747E-4
16-16259635-C-T p.Glu1051Lys missense ABCC6 1 83318 1.20022E-5 41659 0 3.98004E-6
16-16259641-A-C p.Ser1049Ala missense ABCC6 7 83316 8.40175E-5 41658 0 4.77677E-5
16-16259653-G-C p.Leu1045Val missense ABCC6 1 83290 1.20062E-5 41645 0 6.37105E-5
16-16259669-T-A p.Thr1039Thr synonymous ABCC6 1 83266 1.20097E-5 41633 0 NA
16-16259673-C-T p.Arg1038Gln missense ABCC6 1 83238 1.20137E-5 41619 0 5.03525E-4
16-16259698-G-A p.Arg1030* stop_gained ABCC6 6 83054 7.22422E-5 41527 0 2.7906E-5
16-16259722-G-C p.Gln1022Glu missense ABCC6 44 82868 5.30965E-4 41434 0 0.00213553
16-16259723-G-T p.Phe1021Leu missense ABCC6 3 82840 3.62144E-5 41420 0 5.03525E-4
16-16259742-C-T p.Arg1015Gln missense ABCC6 2 82476 2.42495E-5 41238 0 3.18857E-5
16-16259743-G-A p.Arg1015Trp missense ABCC6 3 82472 3.6376E-5 41236 0 3.18817E-5
16-16259750-A-G p.Gly1012Gly synonymous ABCC6 1 82298 1.2151E-5 41149 0 NA
16-16259756-G-T p.Leu1010Leu synonymous ABCC6 1 82142 1.2174E-5 41071 0 NA
16-16259759-C-T p.Val1009Val synonymous ABCC6 1 82024 1.21916E-5 41012 0 NA
16-16259762-C-T p.Ala1008Ala synonymous ABCC6 22 81900 2.6862E-4 40950 0 0.0020141
16-16259783-C-T p.Gly1001Gly synonymous ABCC6 6 81016 7.40594E-5 40508 0 4.05818E-6
16-16259783-C-G p.Gly1001Gly synonymous ABCC6 2 81016 2.46865E-5 40508 0 NA
16-16263497-G-A c.2995+6C>T splice_region ABCC6 20 78596 2.54466E-4 39298 0 2.0384E-4
16-16263498-C-T c.2995+5G>A splice_region ABCC6 2 78622 2.54382E-5 39311 0 NA
16-16263499-G-A c.2995+4C>T splice_region ABCC6 6 78808 7.61344E-5 39404 0 9.57121E-5
16-16263516-G-A p.Leu994Leu synonymous ABCC6 4 79914 5.00538E-5 39957 0 2.55216E-4
16-16263521-G-A p.Leu993Phe missense ABCC6 4 80048 4.997E-5 40024 0 6.28931E-4
16-16263522-C-G p.Gly992Gly synonymous ABCC6 1 80066 1.24897E-5 40033 0 4.09021E-6
16-16263524-C-T p.Gly992Arg missense ABCC6 1 80220 1.24657E-5 40110 0 4.81482E-5
16-16263525-G-A p.Phe991Phe synonymous ABCC6 2 80342 2.48936E-5 40171 0 2.78771E-4
16-16263533-C-T p.Gly989Arg missense ABCC6 4 80786 4.95135E-5 40393 0 6.25782E-4
16-16263534-G-A p.Gly988Gly synonymous ABCC6 1 80826 1.23723E-5 40413 0 3.18898E-5
16-16263538-C-T p.Arg987His missense ABCC6 2 80934 2.47115E-5 40467 0 3.88651E-5
16-16263544-G-T p.Ala985Asp missense ABCC6 3 81124 3.69804E-5 40562 0 1.2221E-5
16-16263552-C-T p.Thr982Thr synonymous ABCC6 1 81224 1.23116E-5 40612 0 6.37592E-5
16-16263553-G-A p.Thr982Met missense ABCC6 1 81270 1.23047E-5 40635 0 6.37674E-5
16-16263553-G-C p.Thr982Arg missense ABCC6 1 81270 1.23047E-5 40635 0 NA
16-16263559-T-C p.Gln980Arg missense ABCC6 2 81354 2.45839E-5 40677 0 1.02444E-5
16-16263560-G-C p.Gln980Glu missense ABCC6 2 81316 2.45954E-5 40658 0 4.09115E-6
16-16263563-C-G p.Gly979Arg missense ABCC6 4 81392 4.91449E-5 40696 0 6.37755E-5
16-16263564-AC-A p.Gly978fs frameshift ABCC6 1 81316 1.22977E-5 40658 0 NA
16-16263572-C-T p.Ala976Thr missense ABCC6 1 81364 1.22904E-5 40682 0 NA
16-16263576-G-T p.Asp974Glu missense ABCC6 4 81358 4.91654E-5 40679 0 3.18634E-5
16-16263577-T-C p.Asp974Gly missense ABCC6 2 81314 2.4596E-5 40657 0 3.18776E-5
16-16263581-C-T p.Asp973Asn missense ABCC6 2 81352 2.45845E-5 40676 0 NA
16-16263582-C-T p.Ala972Ala synonymous ABCC6 1 81364 1.22904E-5 40682 0 6.25782E-4
16-16263589-A-T p.Leu970Gln missense ABCC6 1 81398 1.22853E-5 40699 0 1.29126E-5
16-16263594-C-T p.Leu968Leu synonymous ABCC6 99 81416 0.00121598 40708 0 0.00254582
16-16263607-C-T p.Arg964Gln missense ABCC6 1 81414 1.22829E-5 40707 0 NA
16-16263608-G-A p.Arg964Trp missense ABCC6 2 81422 2.45634E-5 40711 0 6.26488E-5
16-16263620-C-T p.Ala960Thr missense ABCC6 1 81400 1.2285E-5 40700 0 1.73448E-5
16-16263623-C-G p.Val959Leu missense ABCC6 2 81442 2.45574E-5 40721 0 9.18999E-6
16-16263631-CAGAGGA-C p.Phe954_Leu955del disruptive_inframe_deletion ABCC6 7 81396 8.59993E-5 40698 0 6.37024E-5
16-16263635-G-T p.Leu955Ile missense ABCC6 4 81420 4.9128E-5 40710 0 4.29129E-5
16-16263637-A-G p.Phe954Ser missense ABCC6 1 81366 1.22901E-5 40683 0 NA
16-16263640-A-T p.Leu953His missense ABCC6 1 81414 1.22829E-5 40707 0 9.55779E-5
16-16263649-G-A p.Ala950Val missense ABCC6 1 81350 1.22926E-5 40675 0 1.59276E-4
16-16263650-C-T p.Ala950Thr missense ABCC6 67 81300 8.24108E-4 40650 1 6.84859E-4
16-16263651-G-A p.Tyr949Tyr synonymous ABCC6 2 81304 2.4599E-5 40652 0 9.55597E-5
16-16263662-G-T p.Leu946Ile missense ABCC6 1303 81174 0.0160519 40587 17 0.022042
16-16263662-GG-TA p.ProLeu945ProIle missense ABCC6 2 81206 2.46287E-5 40603 0 NA
16-16263663-G-A p.Pro945Pro synonymous ABCC6 6239 81096 0.0769335 40548 275 0.114594
16-16263675-G-A p.Ala941Ala synonymous ABCC6 1 80956 1.23524E-5 40478 0 5.92958E-6
16-16263677-C-T p.Ala941Thr missense ABCC6 1 80940 1.23548E-5 40470 0 NA
16-16263678-A-C p.Arg940Arg synonymous ABCC6 2 80936 2.47109E-5 40468 0 9.00933E-5
16-16263679-C-T p.Arg940His missense ABCC6 4 80900 4.94438E-5 40450 0 4.28743E-5
16-16263680-G-A p.Arg940Cys missense ABCC6 1 80848 1.23689E-5 40424 0 1.20999E-5
16-16263683-G-C p.Leu939Val missense ABCC6 1 80832 1.23713E-5 40416 0 NA
16-16263694-T-G p.His935Pro missense ABCC6 2 80442 2.48626E-5 40221 0 NA
16-16263699-T-G p.Thr933Thr synonymous ABCC6 1 80308 1.24521E-5 40154 0 NA
16-16263702-G-A p.Ala932Ala synonymous ABCC6 4 80168 4.98952E-5 40084 0 3.18939E-5
16-16263705-C-G p.Lys931Asn missense ABCC6 1 79986 1.25022E-5 39993 0 1.91363E-5
16-16267133-G-A c.2787+8C>T splice_region ABCC6 4 82356 4.85696E-5 41178 0 6.25E-4
16-16267140-C-A c.2787+1G>T splice_donor ABCC6 12 82654 1.45184E-4 41327 0 1.23516E-4
16-16267145-C-T p.Gly928Asp missense ABCC6 2 82812 2.41511E-5 41406 0 3.19122E-5
16-16267146-C-T p.Gly928Ser missense ABCC6 5 82860 6.03427E-5 41430 0 6.38447E-5
16-16267147-G-A p.Thr869Met missense ABCC6 56 82892 6.75578E-4 41446 0 0.00162731
16-16267147-G-T p.Tyr927* stop_gained ABCC6 11 82894 1.327E-4 41447 0 8.27007E-6
16-16267147-G-C p.Tyr927* stop_gained ABCC6 1 82894 1.20636E-5 41447 0 NA
16-16267159-G-C p.Asp923Glu missense ABCC6 1 83078 1.20369E-5 41539 0 3.58429E-5
16-16267165-T-G p.Glu863Ala missense ABCC6 3 83136 3.60855E-5 41568 0 3.18898E-5
16-16267170-C-G p.Ala920Pro missense ABCC6 3 83146 3.60811E-5 41573 0 NA
16-16267178-C-A p.Gly917Val missense ABCC6 1 83220 1.20163E-5 41610 0 NA
16-16267181-G-A p.Gln858* stop_gained ABCC6 1 83224 1.20158E-5 41612 0 NA
16-16267183-C-T p.Gly857Glu missense ABCC6 1 83238 1.20137E-5 41619 0 6.37877E-5
16-16267184-C-T p.Arg915Lys missense ABCC6 1 83244 1.20129E-5 41622 0 NA
16-16267190-G-T p.Pro913His missense ABCC6 1 83270 1.20091E-5 41635 0 3.97975E-6
16-16267191-G-T p.Pro913Thr missense ABCC6 2 83266 2.40194E-5 41633 0 NA
16-16267199-A-G p.Leu910Pro missense ABCC6 4 83286 4.80273E-5 41643 0 NA
16-16267221-C-G p.Glu903Gln missense ABCC6 245 83308 0.00294089 41654 3 0.00720296
16-16267231-A-G p.Val841Ala missense ABCC6 2 83298 2.40102E-5 41649 0 3.97769E-6
16-16267232-C-T p.Arg899His missense ABCC6 48 83290 5.763E-4 41645 0 0.00143477
16-16267233-G-A p.Arg899Cys missense ABCC6 46 83302 5.52208E-4 41651 0 0.00100705
16-16267240-C-T p.Arg838Lys missense ABCC6 1 83296 1.20054E-5 41648 0 3.18715E-5
16-16267253-T-C p.Lys892Arg missense ABCC6 1 83252 1.20117E-5 41626 0 NA
16-16267258-G-A p.Pro832Leu missense ABCC6 1 83240 1.20135E-5 41620 0 3.18715E-5
16-16269767-C-T c.2666+1G>A splice_donor ABCC6 1 82998 1.20485E-5 41499 0 NA
16-16269772-C-T p.Glu888Lys missense ABCC6 8 83028 9.6353E-5 41514 0 4.38296E-5
16-16269773-G-A p.Ala829Val missense ABCC6 2 83034 2.40865E-5 41517 0 3.18756E-5
16-16269774-C-T p.Arg887His missense ABCC6 10 83042 1.20421E-4 41521 0 6.25E-4
16-16269775-G-A p.Arg887Cys missense ABCC6 21 83058 2.52835E-4 41529 0 7.64916E-4
16-16269784-C-T p.Glu884Lys missense ABCC6 7 83084 8.42521E-5 41542 0 6.63053E-5
16-16269785-G-A p.Pro825Leu missense ABCC6 1 83096 1.20343E-5 41548 0 1.65758E-5
16-16269790-T-G p.Arg882Arg synonymous ABCC6 1 83142 1.20276E-5 41571 0 NA
16-16269791-C-A p.Arg881Ser missense ABCC6 1 83136 1.20285E-5 41568 0 8.2824E-6
16-16269792-C-G p.Arg881Thr missense ABCC6 2 83140 2.40558E-5 41570 0 NA
16-16269799-C-T p.Ala879Thr missense ABCC6 7 83160 8.41751E-5 41580 0 6.62438E-5
16-16269806-G-T p.Ala818Glu missense ABCC6 31 83168 3.7274E-4 41584 0 6.62317E-4
16-16269814-G-C p.Pro874Ala missense ABCC6 1 83168 1.20239E-5 41584 0 8.27705E-6
16-16269825-C-A p.Ser870Ile missense ABCC6 1 83180 1.20221E-5 41590 0 1.65527E-5
16-16269830-C-T p.Gly810Glu missense ABCC6 1 83164 1.20244E-5 41582 0 3.97994E-6
16-16269832-C-T p.Gly868Arg missense ABCC6 20 83176 2.40454E-4 41588 0 0.0020141
16-16269835-G-T p.Pro867Thr missense ABCC6 2 83158 2.40506E-5 41579 0 NA
16-16269844-C-A c.2591-1G>T splice_acceptor ABCC6 1 83128 1.20296E-5 41564 0 7.96077E-6
16-16271296-G-A n.77+6C>T splice_region ABCC6 2 82986 2.41005E-5 41493 0 1.91107E-4
16-16271297-C-T n.77+5G>A splice_region ABCC6 1 82982 1.20508E-5 41491 0 NA
16-16271300-A-G n.77+2T>C splice_donor ABCC6 1 83036 1.2043E-5 41518 0 2.3876E-5
16-16271324-C-G p.Asp859His missense ABCC6 1 83220 1.20163E-5 41610 0 NA
16-16271356-AT-A p.Met848fs frameshift ABCC6 4 83278 4.80319E-5 41639 0 2.22545E-4
16-16271357-T-C p.Met848Val missense ABCC6 82000 83152 0.986146 41576 40459 0.99875
16-16271358-G-A p.Leu847Leu synonymous ABCC6 1 83268 1.20094E-5 41634 0 7.95817E-6
16-16271363-C-T p.Ala846Thr missense ABCC6 5 83282 6.0037E-5 41641 0 8.24253E-6
16-16271369-T-G p.Lys844Gln missense ABCC6 8 83278 9.60638E-5 41639 0 6.25E-4
16-16271386-T-C p.Gln838Arg missense ABCC6 1 83276 1.20083E-5 41638 0 8.24253E-6
16-16271395-C-T p.Gly835Asp missense ABCC6 2 83278 2.40159E-5 41639 0 1.64867E-5
16-16271398-A-G p.Met834Thr missense ABCC6 2 83284 2.40142E-5 41642 0 3.97763E-6
16-16271409-G-A p.Ala830Ala synonymous ABCC6 13944 83104 0.16779 41552 1264 0.168718
16-16271425-A-G p.Val825Ala missense ABCC6 1 83264 1.201E-5 41632 0 8.24661E-6
16-16271451-G-A p.Ile816Ile synonymous ABCC6 1 83250 1.2012E-5 41625 0 NA
16-16271462-C-T p.Ala813Thr missense ABCC6 8 83214 9.61377E-5 41607 0 6.37064E-5
16-16271467-G-A p.Thr811Met missense ABCC6 1 83218 1.20166E-5 41609 0 2.78489E-5
16-16271471-C-T p.Val810Met missense ABCC6 3 83210 3.60534E-5 41605 0 0.00100705
16-16271472-G-A p.Leu809Leu synonymous ABCC6 4 83210 4.80711E-5 41605 0 3.30147E-5
16-16271474-G-A p.Leu809Phe missense ABCC6 1 83206 1.20184E-5 41603 0 NA
16-16271479-C-T p.Arg807Gln missense ABCC6 2 83198 2.4039E-5 41599 0 3.30229E-5
16-16271480-G-A p.Arg807Trp missense ABCC6 2 83192 2.40408E-5 41596 0 6.37146E-5
16-16271488-G-A c.2416-5C>T splice_region ABCC6 1 83160 1.2025E-5 41580 0 1.19409E-5
16-16272655-T-C p.Thr805Thr splice_region+synonymous ABCC6 3 83128 3.60889E-5 41564 0 9.55597E-5
16-16272657-T-G p.Thr805Pro missense+splice_region ABCC6 1 83138 1.20282E-5 41569 0 NA
16-16272661-C-G p.Gln803His missense ABCC6 3 83156 3.60768E-5 41578 0 3.98086E-5
16-16272662-T-C p.Gln803Arg missense ABCC6 1 83156 1.20256E-5 41578 0 3.9808E-6
16-16272670-T-C p.Gly800Gly synonymous ABCC6 81235 82378 0.986125 41189 40081 0.999375
16-16272673-A-C p.Gly799Gly synonymous ABCC6 16 83200 1.92308E-4 41600 0 1.03497E-4
16-16272673-A-G p.Gly799Gly synonymous ABCC6 1 83200 1.20192E-5 41600 0 NA
16-16272674-C-A p.Gly799Val missense ABCC6 2 83206 2.40367E-5 41603 0 8.27212E-6
16-16272675-C-T p.Gly799Ser missense ABCC6 2 83208 2.40361E-5 41604 0 3.18532E-5
16-16272683-A-G p.Ile796Thr missense ABCC6 1 83182 1.20218E-5 41591 0 2.48254E-5
16-16272702-G-A p.His790Tyr missense ABCC6 2 83110 2.40645E-5 41555 0 3.18715E-5
16-16272711-C-T p.Val787Ile missense ABCC6 79 82968 9.52174E-4 41484 1 0.00352467
16-16272728-G-A p.Ala781Val missense ABCC6 1 83194 1.20201E-5 41597 0 6.25E-4
16-16272731-A-AG p.Leu780fs frameshift ABCC6 1 83210 1.20178E-5 41605 0 NA
16-16272734-G-A p.Pro779Leu missense ABCC6 1 83228 1.20152E-5 41614 0 3.18532E-5
16-16272741-C-T p.Asp777Asn missense ABCC6 1 83236 1.2014E-5 41618 0 NA
16-16272754-A-G p.Ala772Ala synonymous ABCC6 4 83196 4.80792E-5 41598 0 2.38968E-5
16-16272755-G-A p.Ala772Val missense ABCC6 1 83186 1.20213E-5 41593 0 NA
16-16272764-C-T p.Arg769Lys missense ABCC6 22 83156 2.64563E-4 41578 0 7.00726E-4
16-16272764-C-G p.Arg769Thr missense ABCC6 1 83156 1.20256E-5 41578 0 NA
16-16272771-C-T p.Val767Ile missense ABCC6 1 83086 1.20357E-5 41543 0 3.18492E-5
16-16272773-G-C p.Ala766Gly missense ABCC6 1 83038 1.20427E-5 41519 0 NA
16-16272776-C-T p.Arg765Gln missense ABCC6 1 82978 1.20514E-5 41489 0 6.37064E-5
16-16272779-G-A p.Ala764Val missense ABCC6 1 82922 1.20595E-5 41461 0 6.37024E-5
16-16272790-C-T p.Arg760Arg synonymous ABCC6 1 82798 1.20776E-5 41399 0 NA
16-16272791-C-T p.Arg760Gln missense ABCC6 1 82814 1.20753E-5 41407 0 2.54233E-5
16-16272792-G-A p.Arg760Trp missense ABCC6 4 82738 4.83454E-5 41369 0 5.04032E-4
16-16272807-C-T p.Gly755Arg missense ABCC6 2 82282 2.43067E-5 41141 0 4.32369E-5
16-16272811-G-C p.Leu753Leu synonymous ABCC6 2 82102 2.43599E-5 41051 0 5.22193E-5
16-16272818-A-T p.Met751Lys missense ABCC6 2 81790 2.44529E-5 40895 0 6.37146E-5
16-16272829-C-T c.2248-7G>A splice_region ABCC6 1 81078 1.23338E-5 40539 0 4.0493E-6
16-16276268-C-T c.2247+1G>A splice_donor ABCC6 1 83242 1.20132E-5 41621 0 8.23669E-6
16-16276273-T-TC p.Glu748fs frameshift ABCC6 3 83274 3.60256E-5 41637 0 6.37592E-5
16-16276278-A-G p.Ile746Ile synonymous ABCC6 2 83306 2.40079E-5 41653 0 2.38597E-5
16-16276279-A-AACTCTGCACC p.Ile746fs frameshift ABCC6 3 83316 3.60075E-5 41658 0 6.37511E-5
16-16276279-A-G p.Ile746Thr missense ABCC6 3 83316 3.60075E-5 41658 0 4.94201E-5
16-16276286-T-G p.Thr744Pro missense ABCC6 1 83342 1.19988E-5 41671 0 NA
16-16276287-G-A p.His743His synonymous ABCC6 1 83342 1.19988E-5 41671 0 7.95286E-6
16-16276292-T-C p.Ile742Val missense ABCC6 1748 83332 0.0209763 41666 25 0.065625
16-16276321-T-C p.Gln732Arg missense ABCC6 2 83362 2.39917E-5 41681 0 1.64734E-5
16-16276333-G-A p.Ala728Val missense ABCC6 1 83340 1.1999E-5 41670 0 NA
16-16276341-T-A p.Val725Val synonymous ABCC6 1749 83320 0.0209914 41660 24 0.065625
16-16276343-C-T p.Val725Ile missense ABCC6 2 83348 2.39958E-5 41674 0 NA
16-16276345-C-T p.Arg724Lys missense ABCC6 1354 83332 0.0162483 41666 9 0.065
16-16276348-T-C p.Glu723Gly missense ABCC6 2 83348 2.39958E-5 41674 0 NA
16-16276350-C-T p.Leu722Leu synonymous ABCC6 1 83350 1.19976E-5 41675 0 5.96526E-5
16-16276354-C-T p.Trp721* stop_gained ABCC6 1 83346 1.19982E-5 41673 0 NA
16-16276356-G-A p.Pro720Pro synonymous ABCC6 1 83346 1.19982E-5 41673 0 1.19309E-5
16-16276363-T-C p.Asp718Gly missense ABCC6 1 83338 1.19993E-5 41669 0 3.18573E-5
16-16276369-T-C p.Glu716Gly missense ABCC6 2 83348 2.39958E-5 41674 0 NA
16-16276370-C-T p.Glu716Lys missense ABCC6 2 83344 2.39969E-5 41672 0 NA
16-16276370-C-G p.Glu716Gln missense ABCC6 2 83344 2.39969E-5 41672 0 1.19314E-5
16-16276376-C-T p.Gly714Arg missense ABCC6 25 83328 3.00019E-4 41664 0 6.37146E-5
16-16276377-G-A p.Phe713Phe synonymous ABCC6 3 83334 3.59997E-5 41667 0 2.80186E-4
16-16276382-A-G p.Cys712Arg missense ABCC6 4 83336 4.79985E-5 41668 0 5.76939E-5
16-16276385-C-T p.Val711Met missense ABCC6 1 83338 1.19993E-5 41669 0 6.25E-4
16-16276391-C-T p.Glu709Lys missense ABCC6 16 83332 1.92003E-4 41666 0 9.14782E-5
16-16276397-C-T p.Val707Met missense ABCC6 4 83332 4.80008E-5 41666 0 3.18471E-5
16-16276419-C-A p.Glu699Asp missense ABCC6 9 83280 1.08069E-4 41640 0 3.18492E-5
16-16276420-T-C p.Glu699Gly missense ABCC6 1 83278 1.2008E-5 41639 0 7.96197E-6
16-16276430-C-A p.Val696Leu missense ABCC6 2 83204 2.40373E-5 41602 0 3.9833E-6
16-16276431-G-A p.Tyr695Tyr synonymous ABCC6 4 83194 4.80804E-5 41597 0 5.03525E-4
16-16276435-G-A p.Ala694Val missense ABCC6 1 83152 1.20262E-5 41576 0 2.49054E-5
16-16276437-C-T p.Val693Val synonymous ABCC6 1 83152 1.20262E-5 41576 0 7.96921E-6
16-16276442-C-T p.Ala692Thr missense ABCC6 6 83068 7.223E-5 41534 0 1.91192E-4
16-16276448-A-G c.2071-3T>C splice_region ABCC6 2 82972 2.41045E-5 41486 0 8.33139E-6
16-16276656-C-T c.2070+5G>A splice_region ABCC6 1 82236 1.21601E-5 41118 0 NA
16-16276660-C-A c.2070+1G>T splice_donor ABCC6 1 82146 1.21734E-5 41073 0 NA
16-16276663-C-A p.Glu690* stop_gained ABCC6 1 82058 1.21865E-5 41029 0 NA
16-16276663-C-T p.Glu690Lys missense+splice_region ABCC6 6 82058 7.3119E-5 41029 0 4.01777E-5
16-16276664-G-A p.Ile689Ile synonymous ABCC6 297 82022 0.00362098 41011 4 0.00760286
16-16276672-C-T p.Val687Met missense ABCC6 3 81780 3.66838E-5 40890 0 7.23066E-5
16-16276673-G-A p.Phe686Phe synonymous ABCC6 1 81662 1.22456E-5 40831 0 6.38325E-5
16-16276681-C-T p.Glu684Lys missense ABCC6 1 81418 1.22823E-5 40709 0 NA
16-16276682-C-T p.Val683Val synonymous ABCC6 4 81404 4.91376E-5 40702 0 5.2216E-5
16-16276693-G-T p.Leu680Met missense ABCC6 2 81064 2.46719E-5 40532 0 8.2447E-6
16-16276697-C-T p.Gly678Gly synonymous ABCC6 1 81016 1.23432E-5 40508 0 1.81371E-4
16-16276712-C-T p.Leu673Leu synonymous ABCC6 1 80758 1.23827E-5 40379 0 2.0081E-5
16-16276713-A-G p.Leu673Pro missense ABCC6 3 80744 3.71545E-5 40372 0 2.40974E-5
16-16276715-C-T p.Leu672Leu synonymous ABCC6 1 80724 1.23879E-5 40362 0 4.01616E-6
16-16276731-GC-G p.Ala667fs frameshift ABCC6 1 80518 1.24196E-5 40259 0 2.008E-5
16-16276731-G-GC p.Ala667fs frameshift ABCC6 1 80518 1.24196E-5 40259 0 8.24063E-6
16-16276741-G-A p.Pro664Ser missense ABCC6 17 80480 2.11233E-4 40240 0 6.25E-4
16-16276745-G-A p.Val662Val synonymous ABCC6 10 80462 1.24282E-4 40231 0 9.57488E-5
16-16276747-C-A p.Val662Phe missense ABCC6 1 80462 1.24282E-5 40231 0 NA
16-16276763-G-A p.Gly656Gly synonymous ABCC6 1 80462 1.24282E-5 40231 0 NA
16-16276768-G-T p.Gln655Lys missense ABCC6 3 80458 3.72865E-5 40229 0 6.38407E-5
16-16276774-C-A p.Val653Leu missense ABCC6 1 80430 1.24332E-5 40215 0 8.23913E-6
16-16276775-C-T p.Thr652Thr synonymous ABCC6 3 80420 3.73042E-5 40210 0 1.60619E-5
16-16276775-C-G p.Thr652Thr synonymous ABCC6 1 80420 1.24347E-5 40210 0 5.06586E-4
16-16276776-G-A p.Thr652Met missense ABCC6 8 80424 9.94728E-5 40212 0 0.00125
16-16276788-C-CTG c.1944-2_1944-1insCA splice_acceptor ABCC6 1 80406 1.24369E-5 40203 0 NA
16-16276792-A-G c.1944-5T>C splice_region ABCC6 4 80384 4.97611E-5 40192 0 4.01561E-6
16-16276795-C-T c.1944-8G>A splice_region ABCC6 10 80370 1.24425E-4 40185 0 0.00125
16-16278808-T-G c.1943+8A>C splice_region ABCC6 1 83072 1.20378E-5 41536 0 NA
16-16278827-G-A p.Pro644Pro synonymous ABCC6 1 83170 1.20236E-5 41585 0 NA
16-16278850-C-T p.Ala637Thr missense ABCC6 2 83146 2.40541E-5 41573 0 8.2496E-6
16-16278851-G-A p.Phe636Phe synonymous ABCC6 4 83142 4.81105E-5 41571 0 4.37543E-5
16-16278863-G-T p.His632Gln missense ABCC6 36528 82500 0.442764 41250 8218 0.427218
16-16278869-G-C p.Thr630Thr synonymous ABCC6 36396 82316 0.44215 41158 8175 0.427333
16-16278878-A-G p.Asp627Asp synonymous ABCC6 1 83048 1.20412E-5 41524 0 2.48217E-5
16-16278880-C-T p.Asp627Asn missense ABCC6 1 83032 1.20435E-5 41516 0 3.97981E-6
16-16278886-C-T p.Gly625Arg missense ABCC6 4 82914 4.82428E-5 41457 0 3.98178E-5
16-16278896-A-C c.1868-5T>G splice_region ABCC6 2 82756 2.41674E-5 41378 0 3.18857E-5
16-16280981-C-T p.Ala623Thr missense+splice_region ABCC6 3 81884 3.66372E-5 40942 0 5.48396E-5
16-16280982-G-A p.Ser622Ser splice_region+synonymous ABCC6 8 81866 9.77207E-5 40933 0 3.64352E-4
16-16280989-G-A p.Ser620Phe missense ABCC6 1 82154 1.21723E-5 41077 0 NA
16-16280990-A-AG p.Ser620fs frameshift ABCC6 1 82170 1.21699E-5 41085 0 NA
16-16280995-C-T p.Ser618Asn missense ABCC6 2 82318 2.4296E-5 41159 0 5.31613E-5
16-16281005-C-T p.Val615Ile missense ABCC6 1 82466 1.21262E-5 41233 0 3.18593E-5
16-16281007-A-G p.Val614Ala missense ABCC6 37155 81960 0.453331 40980 8603 0.439724
16-16281033-G-A p.Leu605Leu synonymous ABCC6 248 82700 0.00299879 41350 2 0.00697452
16-16281036-G-T p.Phe604Leu missense ABCC6 1 82724 1.20884E-5 41362 0 7.19275E-5
16-16281039-G-A p.Thr603Thr synonymous ABCC6 1 82732 1.20872E-5 41366 0 NA
16-16281049-C-T p.Arg600His missense ABCC6 1 82716 1.20896E-5 41358 0 2.00109E-5
16-16281050-G-A p.Arg600Cys missense ABCC6 2 82736 2.41733E-5 41368 0 1.27397E-4
16-16281063-C-A p.Arg595Arg synonymous ABCC6 1 82736 1.20866E-5 41368 0 NA
16-16281065-G-A p.Arg595Trp missense ABCC6 20 82714 2.41797E-4 41357 0 0.00121042
16-16281066-G-T p.Ala594Ala splice_region+synonymous ABCC6 1 82702 1.20916E-5 41351 0 NA
16-16281067-G-A p.Ala594Val missense+splice_region ABCC6 1 82690 1.20934E-5 41345 0 4.02256E-6
16-16282693-C-T p.Val592Ile missense ABCC6 6 82516 7.27132E-5 41258 0 0.001875
16-16282693-C-A p.Val592Phe missense ABCC6 2 82516 2.42377E-5 41258 0 NA
16-16282694-G-A p.Leu591Leu synonymous ABCC6 3 82562 3.63363E-5 41281 0 6.3678E-5
16-16282697-G-GCTGTCA p.Ser590_Leu591insAspSer disruptive_inframe_insertion ABCC6 1 82602 1.21062E-5 41301 0 NA
16-16282698-G-A p.Ser590Phe missense ABCC6 3 82604 3.63179E-5 41302 0 2.50468E-4
16-16282699-A-G p.Ser590Pro missense ABCC6 1 82570 1.21109E-5 41285 0 NA
16-16282701-T-C p.His589Arg missense ABCC6 1 82582 1.21092E-5 41291 0 4.00663E-6
16-16282701-T-TGCAG p.His589fs frameshift ABCC6 1 82582 1.21092E-5 41291 0 NA
16-16282704-A-AAGAATTCTCAACTGTCCCTGTCTTCATCTCTCTTTTTCC p.Ile588delinsArgLysLysArgAspGluAspArgAspSerTerGluPhePhe stop_gained ABCC6 1 82652 1.20989E-5 41326 0 NA
16-16282706-G-A p.Ser587Ser synonymous ABCC6 1 82700 1.20919E-5 41350 0 8.98037E-6
16-16282729-C-A p.Ala580Ser missense ABCC6 3 82854 3.62083E-5 41427 0 NA
16-16282760-C-T p.Val569Val synonymous ABCC6 1 83004 1.20476E-5 41502 0 1.19433E-5
16-16282764-A-G p.Phe568Ser missense ABCC6 6 83018 7.22735E-5 41509 0 5.04032E-4
16-16282768-C-T p.Ala567Thr missense ABCC6 1 82950 1.20555E-5 41475 0 4.9824E-5
16-16282786-C-T p.Ala561Thr missense ABCC6 1 82778 1.20805E-5 41389 0 3.98232E-6
16-16282792-C-T p.Glu559Lys missense ABCC6 1 82552 1.21136E-5 41276 0 1.66201E-5
16-16282793-G-A p.Ala558Ala synonymous ABCC6 2 82522 2.4236E-5 41261 0 1.66201E-5
16-16282794-G-T p.Ala558Asp missense ABCC6 1 82454 1.2128E-5 41227 0 3.98359E-6
16-16282815-A-G p.Phe551Ser missense ABCC6 2 81574 2.45176E-5 40787 0 3.18593E-5
16-16282817-C-T p.Val550Val synonymous ABCC6 1 81418 1.22823E-5 40709 0 NA
16-16282818-A-G p.Val550Ala missense ABCC6 1 81284 1.23025E-5 40642 0 6.25E-4
16-16282820-C-G p.Val549Val synonymous ABCC6 2 81136 2.465E-5 40568 0 4.16938E-5
16-16282828-C-T p.Ala547Thr missense ABCC6 37 79658 4.64486E-4 39829 0 0.00101206
16-16282829-G-A p.Val546Val splice_region+synonymous ABCC6 2 79656 2.5108E-5 39828 0 4.00272E-6
16-16282838-G-T c.1636-7C>A splice_region ABCC6 1 78422 1.27515E-5 39211 0 4.1834E-5
16-16282839-G-T c.1636-8C>A splice_region ABCC6 2 78268 2.55532E-5 39134 0 1.20246E-5
16-16284015-C-T c.1635+6G>A splice_region ABCC6 3 81794 3.66775E-5 40897 0 6.37796E-5
16-16284016-G-A c.1635+5C>T splice_region ABCC6 1 81850 1.22175E-5 40925 0 3.31257E-5
16-16284026-A-G p.Phe544Leu missense ABCC6 1 82370 1.21403E-5 41185 0 8.2661E-6
16-16284030-A-G p.Ser542Ser synonymous ABCC6 1 82450 1.21286E-5 41225 0 NA
16-16284030-A-T p.Ser542Ser synonymous ABCC6 1 82450 1.21286E-5 41225 0 NA
16-16284051-C-T p.Ser535Ser synonymous ABCC6 1 82758 1.20834E-5 41379 0 6.37796E-5
16-16284056-C-T p.Val534Met missense ABCC6 1 82822 1.20741E-5 41411 0 3.97991E-6
16-16284056-C-A p.Val534Leu missense ABCC6 3 82822 3.62223E-5 41411 0 3.18674E-5
16-16284063-G-A p.Leu531Leu synonymous ABCC6 1 82868 1.20674E-5 41434 0 3.98004E-6
16-16284070-C-T p.Gly529Asp missense ABCC6 7 82858 8.44819E-5 41429 0 9.11428E-4
16-16284071-C-T p.Gly529Ser missense ABCC6 3 82876 3.61987E-5 41438 0 5.57201E-5
16-16284072-G-A p.Ser528Ser synonymous ABCC6 2 82888 2.41289E-5 41444 0 1.64946E-5
16-16284078-C-T p.Arg526Arg synonymous ABCC6 1 82862 1.20683E-5 41431 0 6.25E-4
16-16284079-C-T p.Arg526Gln missense ABCC6 3 82862 3.62048E-5 41431 0 1.64927E-5
16-16284081-C-A p.Leu525Phe missense ABCC6 2 82876 2.41324E-5 41438 0 3.18918E-5
16-16284086-C-A p.Ala524Ser missense ABCC6 4 82812 4.83022E-5 41406 0 6.37674E-5
16-16284087-G-T p.Gly523Gly synonymous ABCC6 19 82810 2.29441E-4 41405 0 0.00151057
16-16284087-G-A p.Gly523Gly synonymous ABCC6 1 82810 1.20758E-5 41405 0 4.12228E-5
16-16284099-G-A p.Gly519Gly synonymous ABCC6 1 82846 1.20706E-5 41423 0 3.18756E-5
16-16284100-C-T p.Gly519Asp missense ABCC6 1 82864 1.2068E-5 41432 0 8.24416E-6
16-16284101-C-T p.Gly519Ser missense ABCC6 1 82864 1.2068E-5 41432 0 NA
16-16284103-C-T p.Arg518Gln missense ABCC6 24 82830 2.8975E-4 41415 0 0.0020141
16-16284104-G-A p.Arg518* stop_gained ABCC6 8 82834 9.65787E-5 41417 0 5.03525E-4
16-16284108-G-A p.Gly516Gly synonymous ABCC6 1 82828 1.20732E-5 41414 0 NA
16-16284109-C-T p.Gly516Asp missense ABCC6 1 82830 1.20729E-5 41415 0 NA
16-16284116-C-T p.Val514Ile missense ABCC6 130 82856 0.00156899 41428 1 0.00855992
16-16284130-G-C p.Ala509Gly missense ABCC6 7 82820 8.45206E-5 41410 0 3.18654E-5
16-16284135-C-G p.Glu507Asp missense ABCC6 1 82882 1.20653E-5 41441 0 8.2409E-6
16-16284137-C-G p.Glu507Gln missense ABCC6 1 82878 1.20659E-5 41439 0 1.19336E-5
16-16284139-C-A p.Trp506Leu missense ABCC6 1 82878 1.20659E-5 41439 0 3.18634E-5
16-16284155-T-C p.Ile501Val missense ABCC6 3 82874 3.61995E-5 41437 0 8.23886E-6
16-16284155-T-A p.Ile501Phe missense ABCC6 2 82874 2.4133E-5 41437 0 7.95482E-6
16-16284166-T-A p.Asn497Ile missense ABCC6 1 82830 1.20729E-5 41415 0 NA
16-16284172-A-T p.Leu495His missense ABCC6 2 82800 2.41546E-5 41400 0 8.23873E-6
16-16284181-C-T p.Ser492Asn missense ABCC6 2 82730 2.4175E-5 41365 0 3.29576E-5
16-16284196-C-T p.Arg487Gln missense ABCC6 1 82546 1.21145E-5 41273 0 2.38662E-5
16-16284197-G-A p.Arg487Trp missense ABCC6 1 82556 1.2113E-5 41278 0 3.97757E-6
16-16284197-G-C p.Arg487Gly missense ABCC6 3 82556 3.6339E-5 41278 0 8.24103E-6
16-16284203-C-A p.Asp485Tyr missense ABCC6 1 82490 1.21227E-5 41245 0 NA
16-16284208-T-C p.Gln483Arg missense ABCC6 1 82400 1.21359E-5 41200 0 NA
16-16284221-C-T p.Glu479Lys missense ABCC6 1 82078 1.21835E-5 41039 0 3.97896E-6
16-16286680-G-A c.1431+7C>T splice_region ABCC6 1 83130 1.20294E-5 41565 0 NA
16-16286691-T-G p.His476Pro missense ABCC6 5 83212 6.00875E-5 41606 0 3.98203E-6
16-16286694-T-A p.His475Leu missense ABCC6 50 83218 6.00832E-4 41609 0 2.60198E-4
16-16286706-T-C p.Lys471Arg missense ABCC6 1 83244 1.20129E-5 41622 0 3.18878E-5
16-16286709-G-A p.Ser470Phe missense ABCC6 1 83264 1.201E-5 41632 0 NA
16-16286717-G-A p.Phe467Phe synonymous ABCC6 1 83270 1.20091E-5 41635 0 NA
16-16286729-G-A p.Leu463Leu synonymous ABCC6 2 83256 2.40223E-5 41628 0 NA
16-16286747-A-T p.Ala457Ala synonymous ABCC6 2 83212 2.4035E-5 41606 0 3.97931E-6
16-16286748-G-C p.Ala457Gly missense ABCC6 3 83214 3.60516E-5 41607 0 8.30993E-6
16-16286749-C-T p.Ala457Thr missense ABCC6 2 83204 2.40373E-5 41602 0 0.00187735
16-16286749-C-A p.Ala457Ser missense ABCC6 2 83204 2.40373E-5 41602 0 NA
16-16286750-G-A p.Ile456Ile synonymous ABCC6 15 83208 1.80271E-4 41604 1 3.82385E-4
16-16286750-G-C p.Ile456Met missense ABCC6 5 83208 6.00904E-5 41604 0 8.31504E-5
16-16286754-G-A p.Ala455Val missense ABCC6 1 83188 1.2021E-5 41594 0 NA
16-16286757-G-A p.Thr454Ile missense ABCC6 16 83184 1.92345E-4 41592 0 0.00188442
16-16286764-C-T p.Ala452Thr missense ABCC6 2 83106 2.40657E-5 41553 0 9.56877E-5
16-16286765-G-A p.Ser451Ser synonymous ABCC6 52 83096 6.25782E-4 41548 0 0.00201613
16-16286774-C-T p.Leu448Leu synonymous ABCC6 593 82956 0.00714837 41478 13 0.0140517
16-16286779-G-T p.Leu447Ile missense+splice_region ABCC6 2 82924 2.41185E-5 41462 0 9.1757E-5
16-16286782-G-GCCA c.1339-4_1339-3insTGG splice_region ABCC6 1 82862 1.20683E-5 41431 0 NA
16-16286785-G-T c.1339-6C>A splice_region ABCC6 1 82798 1.20776E-5 41399 0 8.56604E-6
16-16291871-G-C c.1338+7C>G splice_region ABCC6 48623 69100 0.703661 34550 16850 0.799543
16-16291872-G-A c.1338+6C>T splice_region ABCC6 2 80848 2.47378E-5 40424 0 1.68045E-5
16-16291884-G-A p.Leu444Leu synonymous ABCC6 2 81724 2.44726E-5 40862 0 NA
16-16291888-T-C p.Tyr443Cys missense ABCC6 2 81910 2.4417E-5 40955 0 3.19688E-5
16-16291892-C-T p.Val442Ile missense ABCC6 3 81970 3.65988E-5 40985 0 1.27502E-4
16-16291893-G-A p.Phe441Phe synonymous ABCC6 5 82046 6.09414E-5 41023 0 1.27445E-4
16-16291897-C-T p.Cys440Tyr missense ABCC6 1 82124 1.21767E-5 41062 0 NA
16-16291904-C-T p.Val438Met missense ABCC6 5 82274 6.07725E-5 41137 0 3.31538E-4
16-16291905-G-A p.Ile437Ile synonymous ABCC6 3 82268 3.64662E-5 41134 0 3.18593E-5
16-16291905-G-C p.Ile437Met missense ABCC6 1 82268 1.21554E-5 41134 0 NA
16-16291913-C-T p.Val435Ile missense ABCC6 2 82268 2.43108E-5 41134 0 1.6001E-5
16-16291914-G-A p.Leu434Leu synonymous ABCC6 1 82260 1.21566E-5 41130 0 4.22362E-5
16-16291931-C-T p.Gly429Arg missense ABCC6 6 82040 7.31351E-5 41020 0 3.60193E-5
16-16291932-G-A p.Asn428Asn synonymous ABCC6 156 81956 0.00190346 40978 1 0.00238884
16-16291933-T-C p.Asn428Ser missense ABCC6 6 81896 7.32637E-5 40948 0 1.59297E-4
16-16291946-C-T p.Val424Ile missense ABCC6 3 81720 3.67107E-5 40860 0 5.04541E-4
16-16291948-C-A p.Ser423Ile missense ABCC6 1 81680 1.22429E-5 40840 0 NA
16-16291952-C-T p.Glu422Lys missense ABCC6 4 81676 4.8974E-5 40838 0 6.37267E-5
16-16291953-G-A p.Thr421Thr synonymous ABCC6 166 81622 0.00203377 40811 0 0.00185677
16-16291954-G-A p.Thr421Ile missense ABCC6 3 81644 3.67449E-5 40822 0 NA
16-16291954-G-T p.Thr421Asn missense ABCC6 1 81644 1.22483E-5 40822 0 NA
16-16291956-C-T p.Leu420Leu synonymous ABCC6 2 81624 2.45026E-5 40812 0 NA
16-16291958-G-C p.Leu420Val missense ABCC6 3 81600 3.67647E-5 40800 0 6.37105E-5
16-16291960-C-T p.Arg419Gln missense ABCC6 1 81610 1.22534E-5 40805 0 8.967E-5
16-16291967-C-T p.Val417Met missense ABCC6 2 81536 2.4529E-5 40768 0 6.25E-4
16-16291968-G-A p.Asp416Asp synonymous ABCC6 217 81480 0.00266323 40740 2 0.004375
16-16291971-C-T p.Val415Val synonymous ABCC6 24371 81034 0.30075 40517 3792 0.311996
16-16291973-C-T p.Val415Met missense ABCC6 2 81438 2.45586E-5 40719 0 9.74524E-5
16-16291974-G-A p.Ser414Ser synonymous ABCC6 3 81374 3.68668E-5 40687 0 3.18654E-5
16-16291983-A-G p.Asn411Asn synonymous ABCC6 25229 80812 0.312194 40406 4035 0.338402
16-16291984-T-C p.Asn411Ser missense ABCC6 2 81192 2.4633E-5 40596 0 0.00101112
16-16292001-C-T p.Ala405Ala synonymous ABCC6 8 80654 9.91891E-5 40327 0 0.00151976
16-16292004-A-C p.Ser404Arg missense ABCC6 3 80612 3.72153E-5 40306 0 NA
16-16292005-C-A p.Ser404Ile missense ABCC6 1 80658 1.2398E-5 40329 0 8.42495E-6
16-16292008-G-T p.Ala403Asp missense ABCC6 1 80576 1.24106E-5 40288 0 NA
16-16292008-G-C p.Ala403Gly missense ABCC6 1 80576 1.24106E-5 40288 0 NA
16-16292017-G-A p.Ser400Phe missense ABCC6 3 80386 3.73199E-5 40193 0 6.37267E-5
16-16292021-C-T p.Gly399Ser missense ABCC6 11 80354 1.36894E-4 40177 0 1.79469E-4
16-16292022-G-T p.Ser398Arg missense ABCC6 1 80318 1.24505E-5 40159 0 3.09626E-5
16-16292022-G-A p.Ser398Ser synonymous ABCC6 2 80318 2.4901E-5 40159 0 3.18552E-5
16-16292023-C-A p.Ser398Ile missense ABCC6 3 80324 3.73487E-5 40162 0 1.27445E-4
16-16292034-C-A p.Leu394Leu synonymous ABCC6 1 80128 1.248E-5 40064 0 NA
16-16292044-C-T c.1177-5G>A splice_region ABCC6 4 79850 5.00939E-5 39925 0 1.29988E-4
16-16292044-C-G c.1177-5G>C splice_region ABCC6 1 79850 1.25235E-5 39925 0 NA
16-16292045-G-A c.1177-6C>T splice_region ABCC6 3 79876 3.75582E-5 39938 0 3.18654E-5
16-16292047-G-T c.1177-8C>A splice_region ABCC6 1 79892 1.25169E-5 39946 0 4.70389E-5
16-16295852-G-A c.1176+6C>T splice_region ABCC6 1 80932 1.23561E-5 40466 0 3.98772E-6
16-16295855-C-T c.1176+3G>A splice_region ABCC6 1 81064 1.23359E-5 40532 0 4.99467E-5
16-16295858-C-A p.Lys392Asn missense+splice_region ABCC6 1 81156 1.23219E-5 40578 0 8.32127E-6
16-16295863-T-C p.Arg391Gly missense ABCC6 503 81162 0.00619748 40581 4 0.008125
16-16295873-G-A p.Gly387Gly synonymous ABCC6 1 81424 1.22814E-5 40712 0 3.98267E-6
16-16295874-C-G p.Gly387Ala missense ABCC6 8 81424 9.82511E-5 40712 0 5.57547E-4
16-16295874-C-A p.Gly387Val missense ABCC6 2 81426 2.45622E-5 40713 0 3.98248E-6
16-16295879-G-A p.Ile385Ile synonymous ABCC6 2 81534 2.45296E-5 40767 0 5.79326E-5
16-16295885-C-T p.Ser383Ser synonymous ABCC6 2 81596 2.4511E-5 40798 0 3.30704E-5
16-16295889-C-T p.Arg382Gln missense ABCC6 3 81650 3.67422E-5 40825 0 3.18492E-5
16-16295890-G-A p.Arg382Trp missense ABCC6 4 81658 4.89848E-5 40829 0 7.43237E-5
16-16295893-A-G p.Leu381Leu synonymous ABCC6 1 81694 1.22408E-5 40847 0 1.27462E-4
16-16295902-G-A p.Gln378* stop_gained ABCC6 5 81756 6.11576E-5 40878 0 1.59276E-4
16-16295905-G-A p.Leu377Leu synonymous ABCC6 1 81758 1.22312E-5 40879 0 8.25096E-6
16-16295914-G-C p.Leu374Val missense ABCC6 9 81738 1.10108E-4 40869 0 9.55292E-5
16-16295923-T-C p.Met371Val missense ABCC6 2 81718 2.44744E-5 40859 0 NA
16-16295926-T-C p.Asn370Asp missense ABCC6 29 81720 3.5487E-4 40860 0 0.00114025
16-16295943-G-A p.Thr364Met missense ABCC6 5 81670 6.1222E-5 40835 0 3.29777E-5
16-16295943-G-C p.Thr364Arg missense ABCC6 2 81670 2.44888E-5 40835 0 4.12222E-5
16-16295946-T-G p.Gln363Pro missense ABCC6 6 81672 7.34646E-5 40836 0 NA
16-16295946-T-C p.Gln363Arg missense ABCC6 1 81676 1.22435E-5 40838 0 3.98143E-6
16-16295953-A-C p.Cys361Gly missense ABCC6 2 81658 2.44924E-5 40829 0 NA
16-16295957-T-C p.Ser359Ser synonymous ABCC6 142 80726 0.00175904 40363 1 0.0132032
16-16295960-G-A p.Leu358Leu synonymous ABCC6 9 81592 1.10305E-4 40796 0 5.74713E-4
16-16295970-A-C p.Leu355Arg missense ABCC6 1 81500 1.22699E-5 40750 0 8.26378E-6
16-16295974-C-T p.Val354Met missense ABCC6 17 81412 2.08814E-4 40706 0 3.39146E-4
16-16295975-G-A p.Ala353Ala synonymous ABCC6 27 81400 3.31695E-4 40700 0 7.32858E-4
16-16295975-G-T p.Ala353Ala synonymous ABCC6 1 81402 1.22847E-5 40701 0 3.98226E-6
16-16295976-G-A p.Ala353Val missense ABCC6 9 81366 1.10611E-4 40683 0 9.56023E-5
16-16295977-C-T p.Ala353Thr missense ABCC6 7 81306 8.60945E-5 40653 0 9.56755E-5
16-16295978-G-C p.Leu352Leu synonymous ABCC6 1 81314 1.2298E-5 40657 0 NA
16-16295990-C-A p.Lys348Asn missense ABCC6 1 81132 1.23256E-5 40566 0 NA
16-16296004-G-A p.Pro344Ser missense ABCC6 1 80492 1.24236E-5 40246 0 NA
16-16296029-G-A p.Phe335Phe synonymous ABCC6 3 78444 3.82438E-5 39222 0 1.11798E-4
16-16296033-A-C p.Leu334Arg missense+splice_region ABCC6 1 78136 1.27982E-5 39068 0 3.18979E-5
16-16296039-G-T c.999-4C>A splice_region ABCC6 1 77350 1.29282E-5 38675 0 4.39785E-6
16-16296042-G-A c.999-7C>T splice_region ABCC6 1 77034 1.29813E-5 38517 0 4.50881E-6
16-16297254-GTCTGGGAC-G c.998+5_998+12delGTCCCAGA splice_region ABCC6 1 79984 1.25025E-5 39992 0 NA
16-16297260-G-A c.998+7C>T splice_region ABCC6 1 80444 1.2431E-5 40222 0 NA
16-16297262-C-T c.998+5G>A splice_region ABCC6 1 80566 1.24122E-5 40283 0 5.98329E-5
16-16297263-TCA-T c.998+2_998+3delTG splice_donor ABCC6 3 80618 3.72125E-5 40309 0 8.38082E-6
16-16297263-T-A c.998+4A>T splice_region ABCC6 1 80616 1.24045E-5 40308 0 3.988E-6
16-16297272-C-A p.Leu331Leu synonymous ABCC6 237 80646 0.00293877 40323 5 0.00930944
16-16297275-CT-C p.Lys330fs frameshift ABCC6 1 81158 1.23216E-5 40579 0 NA
16-16297276-T-C p.Lys330Arg missense ABCC6 1 81192 1.23165E-5 40596 0 3.9834E-6
16-16297283-C-A p.Val328Phe missense ABCC6 1 81352 1.22923E-5 40676 0 NA
16-16297307-T-C p.Ile320Val missense ABCC6 2 81672 2.44882E-5 40836 0 3.98184E-6
16-16297310-T-C p.Ile319Val missense ABCC6 19 81364 2.33519E-4 40682 0 0.00688907
16-16297315-C-T p.Ser317Asn missense ABCC6 1 81672 1.22441E-5 40836 0 3.18471E-5
16-16297335-G-A p.Thr310Thr synonymous ABCC6 1 81684 1.22423E-5 40842 0 8.24647E-6
16-16297338-A-T p.Ser309Ser synonymous ABCC6 1 81684 1.22423E-5 40842 0 NA
16-16297341-A-G p.His308His synonymous ABCC6 1 81690 1.22414E-5 40845 0 NA
16-16297349-C-T p.Val306Met missense ABCC6 1 81658 1.22462E-5 40829 0 8.25082E-6
16-16297367-GC-G p.Leu300fs frameshift ABCC6 1 81704 1.22393E-5 40852 0 NA
16-16297371-T-C p.Pro298Pro synonymous ABCC6 1 81716 1.22375E-5 40858 0 3.18593E-5
16-16297375-C-T p.Arg297His missense ABCC6 16 81700 1.95838E-4 40850 0 0.002331
16-16297386-C-G p.Gly293Gly synonymous ABCC6 2 81748 2.44654E-5 40874 0 1.65027E-5
16-16297396-C-G p.Arg290Pro missense ABCC6 1 81778 1.22282E-5 40889 0 NA
16-16297396-C-T p.Arg290Gln missense ABCC6 2 81778 2.44565E-5 40889 0 3.18532E-5
16-16297397-G-A p.Arg290Trp missense ABCC6 1 81778 1.22282E-5 40889 0 3.29951E-5
16-16297404-G-A p.Pro287Pro synonymous ABCC6 2 81804 2.44487E-5 40902 0 8.24701E-6
16-16297409-C-T p.Glu286Lys missense ABCC6 2 81804 2.44487E-5 40902 0 5.84795E-4
16-16297409-C-G p.Glu286Gln missense ABCC6 1 81804 1.22243E-5 40902 0 NA
16-16297421-C-A p.Ala282Ser missense ABCC6 1 81816 1.22225E-5 40908 0 NA
16-16297425-C-G p.Met280Ile missense ABCC6 1 81824 1.22214E-5 40912 0 3.18431E-5
16-16297425-C-T p.Met280Ile missense ABCC6 1 81824 1.22214E-5 40912 0 NA
16-16297436-C-T p.Gly277Ser missense ABCC6 2 81788 2.44535E-5 40894 0 4.12657E-5
16-16297437-G-A p.Gly276Gly synonymous ABCC6 3 81784 3.6682E-5 40892 0 3.18451E-5
16-16297447-T-G p.Lys273Thr missense ABCC6 1 81732 1.22351E-5 40866 0 NA
16-16297449-A-G p.Phe272Phe synonymous ABCC6 2 81708 2.44774E-5 40854 0 NA
16-16297475-G-A c.795-5C>T splice_region ABCC6 1 81386 1.22871E-5 40693 0 NA
16-16302586-T-C p.Arg265Gly missense+splice_region ABCC6 2212 75440 0.0293213 37720 136 0.0668312
16-16302588-C-T p.Arg264Gln missense ABCC6 2 82330 2.42925E-5 41165 0 3.29582E-5
16-16302589-G-A p.Arg264Trp missense ABCC6 3 82330 3.64387E-5 41165 0 3.19387E-5
16-16302589-G-C p.Arg264Gly missense ABCC6 1 82330 1.21462E-5 41165 0 1.5919E-5
16-16302591-G-C p.Ala263Gly missense ABCC6 2 82314 2.42972E-5 41157 0 6.59239E-5
16-16302600-C-T p.Arg260His missense ABCC6 1 82244 1.21589E-5 41122 0 3.58195E-5
16-16302601-G-A p.Arg260Cys missense ABCC6 3 82242 3.64777E-5 41121 0 9.57793E-5
16-16302601-G-T p.Arg260Ser missense ABCC6 2 82244 2.43179E-5 41122 0 3.58172E-5
16-16302614-C-T p.Glu255Glu synonymous ABCC6 2 82128 2.43522E-5 41064 0 3.30136E-5
16-16302620-T-C p.Glu253Glu synonymous ABCC6 1 82028 1.2191E-5 41014 0 NA
16-16302625-G-A p.Leu252Phe missense ABCC6 1 81910 1.22085E-5 40955 0 1.65276E-5
16-16302627-C-T p.Arg251Gln missense ABCC6 4 81842 4.88747E-5 40921 0 2.07018E-4
16-16302637-G-A p.Leu248Phe missense ABCC6 103 81406 0.00126526 40703 1 0.00265393
16-16302644-TGAG-T p.Ser245del disruptive_inframe_deletion ABCC6 2 81132 2.46512E-5 40566 0 3.32022E-5
16-16302653-T-C p.Glu242Glu synonymous ABCC6 1 80662 1.23974E-5 40331 0 NA
16-16302657-C-G p.Arg241Thr missense ABCC6 1 80406 1.24369E-5 40203 0 8.34739E-6
16-16302665-C-T p.Ser238Ser synonymous ABCC6 1 79854 1.25229E-5 39927 0 2.79736E-5
16-16302681-G-A p.Pro233Leu missense ABCC6 1 78592 1.27239E-5 39296 0 4.0132E-6
16-16302698-G-A p.Tyr227Tyr synonymous ABCC6 1 77580 1.28899E-5 38790 0 4.03584E-6
16-16302705-C-T p.Arg225Lys missense ABCC6 1 77652 1.2878E-5 38826 0 1.21293E-5
16-16302719-G-A c.663-3C>T splice_region ABCC6 79 77398 0.0010207 38699 0 0.00316375
16-16306059-C-T p.Thr215Thr synonymous ABCC6 6 10154 5.909E-4 5077 0 0.0973121
16-16308186-G-A p.Gln199* stop_gained ABCC6 1 77376 1.29239E-5 38688 0 1.31148E-5
16-16308193-G-T p.Asp196Glu missense ABCC6 2 77448 2.58238E-5 38724 0 NA
16-16308220-C-T p.Ala187Ala synonymous ABCC6 2 77338 2.58605E-5 38669 0 1.7325E-4
16-16308234-G-GC p.Leu183fs frameshift ABCC6 1 77588 1.28886E-5 38794 0 5.63952E-5
16-16308255-G-T p.Leu176Met missense ABCC6 1 78216 1.27851E-5 39108 0 1.29754E-5
16-16308267-G-T p.Leu172Ile missense ABCC6 1 78836 1.26846E-5 39418 0 NA
16-16308274-G-A