Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-48117626-C-G p.Ter1360Tyrext*? stop_lost ABCC12 2 82568 2.42225E-5 41284 0 3.98016E-6
16-48117631-A-G p.Leu1359Leu synonymous ABCC12 1 82650 1.20992E-5 41325 0 7.95963E-6
16-48117649-G-A p.Leu1353Leu synonymous ABCC12 2 82894 2.41272E-5 41447 0 5.03525E-4
16-48117656-C-T p.Ala1350Ala synonymous ABCC12 2 82938 2.41144E-5 41469 0 8.23669E-6
16-48117657-G-A p.Ala1350Val missense ABCC12 1 82944 1.20563E-5 41472 0 3.1839E-5
16-48117659-A-T p.Phe1349Leu missense ABCC12 780 82970 0.00940099 41485 6 0.0103152
16-48117674-C-T p.Lys1344Lys synonymous ABCC12 291 83058 0.00350358 41529 4 0.00789557
16-48117688-C-T p.Val1340Ile missense ABCC12 3 83094 3.61037E-5 41547 0 NA
16-48117712-C-T p.Val1332Met missense+splice_region ABCC12 2 83130 2.40587E-5 41565 0 3.1837E-5
16-48117713-C-T c.3994-1G>A splice_acceptor ABCC12 4 83128 4.81186E-5 41564 0 9.55292E-5
16-48117719-G-A c.3994-7C>T splice_region ABCC12 162 83144 0.00194843 41572 0 0.00238516
16-48117819-C-G c.3993+1G>C splice_donor ABCC12 2 83342 2.39975E-5 41671 0 NA
16-48117824-C-G p.Gly1330Ala missense ABCC12 1 83328 1.20008E-5 41664 0 1.20566E-5
16-48117826-A-G p.Asn1329Asn synonymous ABCC12 1 83330 1.20005E-5 41665 0 8.02942E-6
16-48117837-C-T p.Val1326Ile missense ABCC12 1 83340 1.1999E-5 41670 0 2.47109E-5
16-48117841-G-GA p.Leu1325fs frameshift ABCC12 3 83342 3.59963E-5 41671 0 1.64734E-5
16-48117849-C-T p.Asp1322Asn missense ABCC12 1 83338 1.19993E-5 41669 0 8.2371E-6
16-48117850-G-A p.Cys1321Cys synonymous ABCC12 74 83334 8.87993E-4 41667 0 9.2392E-4
16-48117872-C-T p.Arg1314His missense ABCC12 1 83328 1.20008E-5 41664 0 6.391E-5
16-48117873-G-A p.Arg1314Cys missense ABCC12 1 83330 1.20005E-5 41665 0 7.99962E-6
16-48117878-G-A p.Ala1312Val missense ABCC12 2 83328 2.40015E-5 41664 0 NA
16-48117879-C-T p.Ala1312Thr missense ABCC12 7 83318 8.40155E-5 41659 0 3.59388E-5
16-48117883-G-A p.Thr1310Thr synonymous ABCC12 1 83330 1.20005E-5 41665 0 3.98909E-6
16-48117893-G-A p.Thr1307Ile missense ABCC12 1 83330 1.20005E-5 41665 0 2.47097E-5
16-48117896-C-G p.Cys1306Ser missense ABCC12 1 83324 1.20013E-5 41662 0 NA
16-48117900-C-T p.Gly1305Ser missense ABCC12 1 83322 1.20016E-5 41661 0 NA
16-48117906-A-G p.Phe1303Leu missense ABCC12 8 83316 9.602E-5 41658 0 0.0020141
16-48117907-G-A p.Ala1302Ala synonymous ABCC12 23 83316 2.76057E-4 41658 0 1.36181E-4
16-48117908-G-C p.Ala1302Gly missense ABCC12 1 83308 1.20036E-5 41654 0 8.23642E-6
16-48117935-G-T p.Thr1293Asn missense ABCC12 1 83300 1.20048E-5 41650 0 1.64739E-5
16-48117937-G-A p.Asp1292Asp synonymous ABCC12 1 83292 1.2006E-5 41646 0 4.00712E-6
16-48117943-C-T p.Lys1290Lys synonymous ABCC12 4 83302 4.80181E-5 41651 0 9.55292E-5
16-48117958-G-A p.Ala1285Ala synonymous ABCC12 1 83294 1.20057E-5 41647 0 NA
16-48117960-C-T p.Ala1285Thr missense ABCC12 4 83276 4.8033E-5 41638 0 6.25782E-4
16-48117961-G-A p.Thr1284Thr synonymous ABCC12 13 83270 1.56119E-4 41635 0 5.03525E-4
16-48117965-G-A p.Ala1283Val missense ABCC12 1 83256 1.20111E-5 41628 0 8.24647E-6
16-48117974-A-G p.Leu1280Pro missense ABCC12 1 83218 1.20166E-5 41609 0 NA
16-48117982-G-A p.Ile1277Ile splice_region+synonymous ABCC12 2 83144 2.40547E-5 41572 0 1.27445E-4
16-48119502-A-C c.3828+2T>G splice_donor ABCC12 1 83074 1.20375E-5 41537 0 NA
16-48119507-T-C p.Ser1275Ser synonymous ABCC12 1 83152 1.20262E-5 41576 0 NA
16-48119515-G-A p.Arg1273Cys missense ABCC12 1 83156 1.20256E-5 41578 0 5.96792E-5
16-48119516-G-A p.Leu1272Leu synonymous ABCC12 1 83174 1.2023E-5 41587 0 NA
16-48119516-G-GAGA p.Leu1272dup disruptive_inframe_insertion ABCC12 3 83176 3.60681E-5 41588 0 3.97766E-6
16-48119526-C-A p.Arg1269Leu missense ABCC12 1 83234 1.20143E-5 41617 0 3.97722E-6
16-48119527-G-A p.Arg1269* stop_gained ABCC12 3 83234 3.6043E-5 41617 0 3.97722E-6
16-48119533-C-T p.Val1267Met missense ABCC12 1 83262 1.20103E-5 41631 0 NA
16-48119545-G-A p.Gln1263* stop_gained ABCC12 1 83278 1.2008E-5 41639 0 3.29457E-5
16-48119547-C-T p.Arg1262His missense ABCC12 1 83274 1.20085E-5 41637 0 1.193E-5
16-48119548-G-A p.Arg1262Cys missense ABCC12 4 83274 4.80342E-5 41637 0 3.18674E-5
16-48119549-T-A p.Glu1261Asp missense ABCC12 1 83276 1.20083E-5 41638 0 NA
16-48119554-C-A p.Gly1260Trp missense ABCC12 4 83288 4.80261E-5 41644 0 3.9764E-6
16-48119554-C-T p.Gly1260Arg missense ABCC12 1 83288 1.20065E-5 41644 0 NA
16-48119557-C-G p.Val1259Leu missense ABCC12 1 83282 1.20074E-5 41641 0 8.23642E-6
16-48119571-C-T p.Gly1254Glu missense ABCC12 11 83286 1.32075E-4 41643 0 3.97665E-5
16-48119574-T-C p.Asn1253Ser missense ABCC12 2 83280 2.40154E-5 41640 0 NA
16-48119575-T-G p.Asn1253His missense ABCC12 1 83282 1.20074E-5 41641 0 NA
16-48119582-G-A p.Val1250Val synonymous ABCC12 2 83254 2.40229E-5 41627 0 2.78372E-5
16-48119595-A-G p.Leu1246Ser missense ABCC12 1 83228 1.20152E-5 41614 0 8.23723E-6
16-48119602-C-A p.Glu1244* stop_gained ABCC12 1 83204 1.20187E-5 41602 0 NA
16-48119603-T-C p.Pro1243Pro synonymous ABCC12 3 83204 3.6056E-5 41602 0 3.97738E-6
16-48119617-T-C p.Ile1239Val missense+splice_region ABCC12 1 83036 1.2043E-5 41518 0 8.23995E-6
16-48119622-A-C c.3715-5T>G splice_region ABCC12 6 82958 7.23258E-5 41479 0 9.89152E-5
16-48120647-C-G c.3714+5G>C splice_region ABCC12 1 81284 1.23025E-5 40642 0 NA
16-48120648-C-T c.3714+4G>A splice_region ABCC12 2 81328 2.45918E-5 40664 0 6.25E-4
16-48120661-C-T p.Met1235Ile missense ABCC12 1 81634 1.22498E-5 40817 0 NA
16-48120663-T-C p.Met1235Val missense ABCC12 9 81616 1.10272E-4 40808 0 2.54858E-4
16-48120667-T-C p.Thr1233Thr synonymous ABCC12 1 81690 1.22414E-5 40845 0 NA
16-48120676-C-T p.Leu1230Leu synonymous ABCC12 1 81934 1.22049E-5 40967 0 NA
16-48120679-A-ATGAG p.Leu1230fs frameshift ABCC12 1 81948 1.22029E-5 40974 0 8.23778E-6
16-48120680-ACC-A p.Gln1228fs frameshift ABCC12 1 81956 1.22017E-5 40978 0 8.2375E-6
16-48120684-G-T p.Gln1228Lys missense ABCC12 1 82020 1.21921E-5 41010 0 NA
16-48120692-A-G p.Met1225Thr missense ABCC12 5 82100 6.09013E-5 41050 0 5.03525E-4
16-48120697-A-G p.Asp1223Asp synonymous ABCC12 3103 82004 0.0378396 41002 316 0.0747211
16-48120700-G-A p.Thr1222Thr synonymous ABCC12 1 82124 1.21767E-5 41062 0 4.11855E-5
16-48120701-G-A p.Thr1222Ile missense ABCC12 1 82144 1.21737E-5 41072 0 1.99022E-5
16-48120709-C-A p.Glu1219Asp missense ABCC12 2 82132 2.4351E-5 41066 0 7.95982E-6
16-48120711-C-T p.Glu1219Lys missense ABCC12 6 82156 7.30318E-5 41078 0 3.18532E-5
16-48120713-AAGGGATCCAAGTTG-A p.Asn1214fs frameshift ABCC12 6 82096 7.30852E-5 41048 0 2.80075E-4
16-48120733-G-A c.3636-3C>T splice_region ABCC12 16 81856 1.95465E-4 40928 0 4.13881E-4
16-48121853-A-G p.Phe1207Leu missense ABCC12 1 82610 1.21051E-5 41305 0 NA
16-48121859-C-A p.Val1205Phe missense ABCC12 1 82592 1.21077E-5 41296 0 NA
16-48121860-A-T p.Pro1204Pro synonymous ABCC12 1 82608 1.21054E-5 41304 0 NA
16-48121862-G-A p.Pro1204Ser missense ABCC12 2 82626 2.42055E-5 41313 0 3.98352E-6
16-48121865-C-T p.Asp1203Asn missense ABCC12 1 82626 1.21027E-5 41313 0 8.25627E-6
16-48121866-C-T p.Gln1202Gln synonymous ABCC12 2 82646 2.41996E-5 41323 0 NA
16-48121868-G-A p.Gln1202* stop_gained ABCC12 1 82656 1.20983E-5 41328 0 NA
16-48121888-G-C p.Thr1195Ser missense ABCC12 3 82600 3.63196E-5 41300 0 3.98165E-6
16-48121899-T-A p.Glu1191Asp missense ABCC12 2 82528 2.42342E-5 41264 0 NA
16-48121900-T-G p.Glu1191Ala missense ABCC12 774 82504 0.00938136 41252 17 0.0161486
16-48121910-G-T p.Leu1188Ile missense ABCC12 2 82424 2.42648E-5 41212 0 NA
16-48121912-A-G p.Ile1187Thr missense ABCC12 1765 82374 0.0214267 41187 97 0.0440418
16-48121918-A-C p.Ile1185Ser missense ABCC12 2 82392 2.42742E-5 41196 0 3.1837E-5
16-48121933-A-G p.Ile1180Thr missense ABCC12 1 82274 1.21545E-5 41137 0 8.26774E-6
16-48121944-G-T p.Gly1176Gly synonymous ABCC12 1 82202 1.21652E-5 41101 0 NA
16-48121948-C-A p.Ser1175Ile missense ABCC12 2 82184 2.43356E-5 41092 0 NA
16-48121954-G-T p.Pro1173Gln missense ABCC12 2 82164 2.43416E-5 41082 0 0.00100806
16-48121964-G-C p.Leu1170Val missense ABCC12 3 82158 3.6515E-5 41079 0 3.1835E-5
16-48121966-C-T p.Arg1169His missense ABCC12 16 82128 1.94818E-4 41064 0 1.27356E-4
16-48121967-G-A p.Arg1169Cys missense ABCC12 1 82138 1.21746E-5 41069 0 3.18471E-5
16-48121985-A-G p.Leu1163Leu synonymous ABCC12 1 82104 1.21797E-5 41052 0 NA
16-48121986-C-T p.Ser1162Ser synonymous ABCC12 1 82076 1.21838E-5 41038 0 6.25E-4
16-48121987-G-A p.Ser1162Leu missense ABCC12 104 82046 0.00126758 41023 1 0.00296159
16-48121989-T-C p.Ser1161Ser synonymous ABCC12 1 82020 1.21921E-5 41010 0 NA
16-48121991-A-T p.Ser1161Thr missense ABCC12 2 82002 2.43896E-5 41001 0 NA
16-48121994-T-C p.Lys1160Glu missense+splice_region ABCC12 1 81972 1.21993E-5 40986 0 3.99735E-6
16-48122448-G-T c.3475+8C>A splice_region ABCC12 1 83174 1.2023E-5 41587 0 NA
16-48122449-T-C c.3475+7A>G splice_region ABCC12 835 83164 0.0100404 41582 23 0.0227982
16-48122454-A-C c.3475+2T>G splice_donor ABCC12 2 83212 2.4035E-5 41606 0 1.66199E-5
16-48122456-C-T p.Gly1159Arg missense+splice_region ABCC12 523 83214 0.006285 41607 2 0.0111798
16-48122460-A-G p.Gly1157Gly synonymous ABCC12 1 83260 1.20106E-5 41630 0 8.27431E-6
16-48122462-C-G p.Gly1157Arg missense ABCC12 5 83272 6.00442E-5 41636 0 3.1841E-5
16-48122471-C-G p.Gly1154Arg missense ABCC12 2 83284 2.40142E-5 41642 0 4.12664E-5
16-48122480-C-T p.Gly1151Arg missense ABCC12 1 83316 1.20025E-5 41658 0 6.3678E-5
16-48122480-C-G p.Gly1151Arg missense ABCC12 1 83316 1.20025E-5 41658 0 NA
16-48122483-C-T p.Val1150Ile missense ABCC12 1 83326 1.20011E-5 41663 0 NA
16-48122485-G-A p.Thr1149Ile missense ABCC12 1 83324 1.20013E-5 41662 0 5.03525E-4
16-48122489-G-C p.Gln1148Glu missense ABCC12 22 83332 2.64004E-4 41666 0 5.73102E-4
16-48122501-T-G p.Ile1144Leu missense ABCC12 1 83356 1.19967E-5 41678 0 NA
16-48122514-G-C p.Ser1139Arg missense ABCC12 9 83352 1.07976E-4 41676 0 2.22958E-4
16-48122520-G-A p.Leu1137Leu synonymous ABCC12 2 83358 2.39929E-5 41679 0 1.19337E-5
16-48122529-G-C p.Pro1134Pro synonymous ABCC12 3 83362 3.59876E-5 41681 0 8.23778E-6
16-48122529-G-A p.Pro1134Pro synonymous ABCC12 4 83362 4.79835E-5 41681 0 8.23778E-6
16-48122530-G-C p.Pro1134Arg missense ABCC12 4 83360 4.79846E-5 41680 0 8.91549E-4
16-48122530-G-T p.Pro1134His missense ABCC12 1 83360 1.19962E-5 41680 0 3.1841E-5
16-48122532-G-T p.Thr1133Thr synonymous ABCC12 1 83348 1.19979E-5 41674 0 NA
16-48122544-G-C p.Tyr1129* stop_gained ABCC12 3 83338 3.5998E-5 41669 0 7.95482E-6
16-48122547-T-G p.Arg1128Ser missense ABCC12 2 83330 2.4001E-5 41665 0 5.76616E-5
16-48122563-C-T p.Arg1123Lys missense ABCC12 21 83320 2.5204E-4 41660 0 8.23737E-6
16-48122566-A-G p.Phe1122Ser missense ABCC12 20 83312 2.40061E-4 41656 0 3.21263E-4
16-48122567-A-G p.Phe1122Leu missense ABCC12 1 83310 1.20034E-5 41655 0 8.23737E-6
16-48122577-C-T p.Gly1118Gly synonymous ABCC12 1 83308 1.20036E-5 41654 0 3.29511E-5
16-48122579-C-T p.Gly1118Arg missense ABCC12 1 83308 1.20036E-5 41654 0 0.00125
16-48122581-C-T p.Arg1117His missense ABCC12 1 83314 1.20028E-5 41657 0 7.95602E-6
16-48122582-G-A p.Arg1117Cys missense ABCC12 56985 82728 0.688824 41364 20963 0.804375
16-48122607-C-A p.Gly1108Gly synonymous ABCC12 1 83308 1.20036E-5 41654 0 NA
16-48122609-C-T p.Gly1108Arg missense ABCC12 1 83306 1.20039E-5 41653 0 1.27421E-4
16-48122616-G-A p.Leu1105Leu synonymous ABCC12 1 83304 1.20042E-5 41652 0 NA
16-48122618-G-A p.Leu1105Phe missense ABCC12 1 83298 1.20051E-5 41649 0 3.18471E-5
16-48122621-G-A p.Pro1104Ser missense ABCC12 2 83300 2.40096E-5 41650 0 8.24974E-6
16-48122632-T-G p.Glu1100Ala missense ABCC12 5 83268 6.00471E-5 41634 0 3.19313E-5
16-48122636-G-A p.Pro1099Ser missense ABCC12 3 83250 3.6036E-5 41625 0 3.18471E-5
16-48122639-C-T p.Val1098Ile missense ABCC12 1 83240 1.20135E-5 41620 0 8.27144E-6
16-48125020-TAATTTCTTACCG-T p.Ser1095fs frameshift ABCC12 1 82722 1.20887E-5 41361 0 8.24606E-6
16-48125032-G-A p.Ser1095Leu missense+splice_region ABCC12 8 82822 9.65927E-5 41411 0 1.23675E-4
16-48125077-G-GT p.Thr1080fs frameshift ABCC12 1 82898 1.2063E-5 41449 0 7.96033E-6
16-48125078-TC-CT p.GluThr1079GluAla missense ABCC12 52 82900 6.27262E-4 41450 0 NA
16-48125078-T-C p.Thr1080Ala missense ABCC12 3 82900 3.61882E-5 41450 0 0.00125
16-48125079-C-T p.Glu1079Glu synonymous ABCC12 3 82900 3.61882E-5 41450 0 0.00125
16-48125087-C-CCGTT p.Gly1077fs frameshift ABCC12 1 82886 1.20648E-5 41443 0 NA
16-48125088-C-G p.Thr1076Thr synonymous ABCC12 1 82880 1.20656E-5 41440 0 NA
16-48125092-C-G p.Arg1075Pro missense ABCC12 8 82818 9.65974E-5 41409 0 0.00125
16-48125093-GCA-G p.Val1074fs frameshift ABCC12 3 82814 3.62258E-5 41407 0 3.29755E-5
16-48125101-A-T p.Val1072Glu missense ABCC12 4 82786 4.83173E-5 41393 0 7.96153E-6
16-48125102-C-G p.Val1072Leu missense ABCC12 2 82770 2.41633E-5 41385 0 NA
16-48125105-G-A p.Gln1071* stop_gained ABCC12 3 82742 3.62573E-5 41371 0 3.18499E-5
16-48125115-G-A p.Ser1067Ser synonymous ABCC12 1 82588 1.21083E-5 41294 0 NA
16-48130654-T-C c.3195+3A>G splice_region ABCC12 1 83114 1.20317E-5 41557 0 3.1839E-5
16-48130669-T-C p.Ser1061Ser synonymous ABCC12 3 83148 3.60802E-5 41574 0 3.18492E-5
16-48130676-G-C p.Ser1059* stop_gained ABCC12 2 83182 2.40437E-5 41591 0 8.23832E-6
16-48130691-G-T p.Ser1054* stop_gained ABCC12 1 83172 1.20233E-5 41586 0 7.41485E-5
16-48130701-T-A p.Ile1051Phe missense ABCC12 1 83174 1.2023E-5 41587 0 NA
16-48130704-A-G p.Ser1050Pro missense ABCC12 55 83186 6.61169E-4 41593 0 0.00159236
16-48130705-G-A p.Ser1049Ser synonymous ABCC12 9 83190 1.08186E-4 41595 0 5.04032E-4
16-48130769-C-A p.Arg1028Ile missense ABCC12 3 83102 3.61002E-5 41551 0 6.37105E-5
16-48130771-CA-C p.Leu1027fs frameshift ABCC12 21 83098 2.52714E-4 41549 0 7.08289E-4
16-48130774-C-T p.Ala1026Ala synonymous ABCC12 26 83068 3.12997E-4 41534 0 9.56267E-5
16-48130775-G-A p.Ala1026Val missense ABCC12 3 83082 3.61089E-5 41541 0 8.26078E-5
16-48130781-C-T p.Trp1024* stop_gained ABCC12 2093 82990 0.0252199 41495 27 0.0352823
16-48130784-C-G p.Arg1023Thr missense ABCC12 1 83070 1.2038E-5 41535 0 3.18552E-5
16-48130797-TA-T p.Phe1018fs frameshift ABCC12 2 83022 2.409E-5 41511 0 7.96064E-6
16-48130814-C-G c.3039-1G>C splice_acceptor ABCC12 1 82922 1.20595E-5 41461 0 NA
16-48130849-G-A c.*1055-6C>T splice_region ABCC12 9 82230 1.09449E-4 41115 0 2.86624E-4
16-48134776-G-A c.3038+7C>T splice_region ABCC12 3 82542 3.63451E-5 41271 0 3.18492E-5
16-48134784-A-G p.Ter1010Glnext*? stop_lost ABCC12 3070 82618 0.037159 41309 304 0.0752997
16-48134793-A-G p.Cys1010Arg missense ABCC12 1 82926 1.20589E-5 41463 0 8.29339E-6
16-48134809-A-G p.Trp926Arg missense ABCC12 1 83104 1.20331E-5 41552 0 8.27089E-6
16-48134810-T-C p.Tyr1004Cys missense ABCC12 1 83118 1.20311E-5 41559 0 NA
16-48134814-C-T p.Ala1003Thr missense ABCC12 8 83144 9.62186E-5 41572 0 1.59276E-4
16-48134815-G-A p.Arg924Cys missense ABCC12 9 83154 1.08233E-4 41577 0 2.22902E-4
16-48134821-G-A p.His922Tyr missense ABCC12 1 83192 1.20204E-5 41596 0 NA
16-48134823-T-C p.Ile1000Val missense ABCC12 151 83182 0.0018153 41591 0 0.00267482
16-48134836-C-A p.Met995Ile missense ABCC12 1 83208 1.20181E-5 41604 0 NA
16-48134842-G-A p.Leu915Phe missense ABCC12 195 83228 0.00234296 41614 2 0.00276439
16-48134848-G-A p.His913Tyr missense ABCC12 1 83242 1.20132E-5 41621 0 8.253E-6
16-48134850-T-C p.Ile991Val missense ABCC12 2 83242 2.40263E-5 41621 0 8.25232E-6
16-48134851-G-A p.His912Tyr missense ABCC12 1 83246 1.20126E-5 41623 0 NA
16-48134856-T-A p.Thr989Ser missense ABCC12 3126 83180 0.0375811 41590 320 0.0751832
16-48134859-A-T p.Phe988Ile missense ABCC12 1 83238 1.20137E-5 41619 0 NA
16-48134871-G-A p.Arg984Trp missense ABCC12 8 83232 9.61169E-5 41616 0 9.55171E-5
16-48134883-C-G p.Glu980Gln missense ABCC12 2 83200 2.40385E-5 41600 0 NA
16-48134914-G-A p.Pro891Ser missense ABCC12 1 83016 1.20459E-5 41508 0 2.79053E-5
16-48138038-AGCACATGG-A c.2900+7_2900+14delCCATGTGC splice_region ABCC12 3 83280 3.60231E-5 41640 0 4.00619E-6
16-48138046-G-T c.2900+7C>A splice_region ABCC12 2 83316 2.4005E-5 41658 0 7.47893E-5
16-48138053-C-G p.Arg967Pro missense+splice_region ABCC12 4 83322 4.80065E-5 41661 0 5.03525E-4
16-48138053-C-T p.Arg967His missense+splice_region ABCC12 1 83322 1.20016E-5 41661 0 2.48501E-5
16-48138054-G-A p.Arg967Cys missense+splice_region ABCC12 2 83334 2.39998E-5 41667 0 2.48361E-5
16-48138057-A-T p.Leu966Ile missense ABCC12 1 83338 1.19993E-5 41669 0 3.1839E-5
16-48138078-C-T p.Ala959Thr missense ABCC12 1 83374 1.19941E-5 41687 0 NA
16-48138090-C-T p.Val955Met missense ABCC12 3 83382 3.5979E-5 41691 0 6.37024E-5
16-48138090-C-A p.Val955Leu missense ABCC12 1 83382 1.1993E-5 41691 0 4.94413E-5
16-48138099-G-T p.Leu952Ile missense ABCC12 1 83388 1.19921E-5 41694 0 3.97662E-6
16-48138111-A-G p.Phe948Leu missense ABCC12 3 83384 3.59781E-5 41692 0 5.03525E-4
16-48138130-G-A p.Leu941Leu synonymous ABCC12 1 83382 1.1993E-5 41691 0 8.2371E-6
16-48138143-A-G p.Val937Ala missense ABCC12 1 83370 1.19947E-5 41685 0 NA
16-48138144-C-T p.Val937Met missense ABCC12 1 83366 1.19953E-5 41683 0 NA
16-48138156-G-T p.Gln933Lys missense ABCC12 1 83360 1.19962E-5 41680 0 8.23669E-6
16-48138158-T-C p.Gln932Arg missense ABCC12 1 83356 1.19967E-5 41678 0 1.64734E-5
16-48138159-G-A p.Gln932* stop_gained ABCC12 1 83354 1.1997E-5 41677 0 3.9764E-6
16-48138159-GC-G p.Gln932fs frameshift ABCC12 1 83354 1.1997E-5 41677 0 8.23669E-6
16-48138169-C-T p.Glu928Glu synonymous ABCC12 3 83352 3.59919E-5 41676 0 1.27356E-4
16-48138169-C-G p.Glu928Asp missense ABCC12 1 83352 1.19973E-5 41676 0 NA
16-48138174-C-T p.Ala927Thr missense ABCC12 1 83348 1.19979E-5 41674 0 3.57878E-5
16-48138175-G-C p.His926Gln missense ABCC12 1 83350 1.19976E-5 41675 0 3.1835E-5
16-48138175-G-A p.His926His synonymous ABCC12 3 83350 3.59928E-5 41675 0 8.23696E-5
16-48138179-A-C p.Phe925Cys missense ABCC12 2 83344 2.39969E-5 41672 0 NA
16-48138181-C-T p.Pro924Pro synonymous ABCC12 4 83338 4.79973E-5 41669 0 1.59175E-4
16-48138182-G-A p.Pro924Leu missense ABCC12 2 83340 2.39981E-5 41670 0 3.18471E-5
16-48138185-AG-A p.Leu923fs frameshift ABCC12 1 83342 1.19988E-5 41671 0 5.03525E-4
16-48138186-G-A p.Leu923Leu synonymous ABCC12 1 83336 1.19996E-5 41668 0 NA
16-48138198-G-A p.Leu919Leu synonymous ABCC12 12 83326 1.44013E-4 41663 0 1.15316E-4
16-48138199-C-T p.Glu918Glu synonymous ABCC12 1 83322 1.20016E-5 41661 0 3.1837E-5
16-48138201-C-T p.Glu918Lys missense ABCC12 5 83320 6.00096E-5 41660 0 3.77755E-4
16-48138202-G-A p.Asp917Asp synonymous ABCC12 4 83310 4.80134E-5 41655 0 3.1835E-5
16-48138210-C-T p.Asp915Asn missense ABCC12 2 83304 2.40085E-5 41652 0 NA
16-48138211-C-T p.Lys914Lys synonymous ABCC12 1 83306 1.20039E-5 41653 0 6.36821E-5
16-48138215-G-GA p.Ser913fs frameshift ABCC12 1 83300 1.20048E-5 41650 0 NA
16-48138222-G-A p.Arg911Cys missense ABCC12 2 83302 2.4009E-5 41651 0 9.55049E-5
16-48138222-G-T p.Arg911Ser missense ABCC12 1 83302 1.20045E-5 41651 0 NA
16-48138230-A-C p.Leu908Arg missense ABCC12 3 83282 3.60222E-5 41641 0 NA
16-48138234-T-G p.Arg907Arg synonymous ABCC12 3 83288 3.60196E-5 41644 0 1.91022E-4
16-48138238-A-C p.Thr905Thr synonymous ABCC12 6 83282 7.20444E-5 41641 0 2.22887E-4
16-48138244-AGTCGT-A p.Thr902fs frameshift ABCC12 18 83280 2.16138E-4 41640 0 0.00129378
16-48138247-C-T p.Thr902Thr synonymous ABCC12 1 83264 1.201E-5 41632 0 0.00100705
16-48138255-A-G p.Phe900Leu missense ABCC12 1 83226 1.20155E-5 41613 0 NA
16-48138259-A-G p.Ser898Ser synonymous ABCC12 2943 82950 0.0354792 41475 241 0.0752009
16-48138264-T-C p.Met897Val missense ABCC12 6 83168 7.21431E-5 41584 0 3.82093E-4
16-48138272-T-A p.Lys894Met missense ABCC12 1080 83032 0.013007 41516 26 0.0227967
16-48139045-C-T c.2673+5G>A splice_region ABCC12 1 83046 1.20415E-5 41523 0 8.2409E-6
16-48139062-C-T p.Thr887Thr synonymous ABCC12 7 83192 8.41427E-5 41596 0 2.38927E-4
16-48139063-G-A p.Thr887Met missense ABCC12 23 83202 2.76436E-4 41601 0 4.78042E-4
16-48139063-G-C p.Thr887Arg missense ABCC12 3 83202 3.60568E-5 41601 0 3.18695E-5
16-48139074-A-C p.Ser883Ser synonymous ABCC12 1 83250 1.2012E-5 41625 0 NA
16-48139076-A-C p.Ser883Ala missense ABCC12 2 83258 2.40217E-5 41629 0 2.38588E-5
16-48139077-G-A p.Ser882Ser synonymous ABCC12 1 83260 1.20106E-5 41630 0 NA
16-48139091-G-T p.Leu878Met missense ABCC12 1 83278 1.2008E-5 41639 0 3.18573E-5
16-48139098-C-A p.Lys875Asn missense ABCC12 1 83286 1.20068E-5 41643 0 NA
16-48139099-TTGGTG-T p.Phe873fs frameshift ABCC12 1 83286 1.20068E-5 41643 0 NA
16-48139104-G-A p.Phe873Phe synonymous ABCC12 3 83282 3.60222E-5 41641 0 NA
16-48139109-C-T p.Val872Ile missense ABCC12 2 83288 2.40131E-5 41644 0 3.18573E-5
16-48139110-G-A p.Phe871Phe synonymous ABCC12 1 83282 1.20074E-5 41641 0 2.78374E-5
16-48139110-G-C p.Phe871Leu missense ABCC12 1 83282 1.20074E-5 41641 0 NA
16-48139121-T-C p.Thr868Ala missense ABCC12 1 83264 1.201E-5 41632 0 1.64794E-5
16-48139122-G-T p.Val867Val synonymous ABCC12 62 83260 7.44655E-4 41630 0 5.72678E-4
16-48139124-C-T p.Val867Ile missense ABCC12 25 83256 3.00279E-4 41628 0 0.00100705
16-48139125-G-A p.Gly866Gly synonymous ABCC12 79 83246 9.48995E-4 41623 2 0.00159327
16-48139133-C-T p.Val864Met missense ABCC12 1 83232 1.20146E-5 41616 0 NA
16-48139137-C-G p.Met862Ile missense ABCC12 1 83222 1.20161E-5 41611 0 NA
16-48139140-G-T p.Phe861Leu missense ABCC12 1 83222 1.20161E-5 41611 0 NA
16-48139156-G-A p.Thr856Ile missense ABCC12 3 83148 3.60802E-5 41574 0 1.65044E-5
16-48139168-T-G p.Gln852Pro missense ABCC12 1 83112 1.2032E-5 41556 0 NA
16-48139170-G-T p.Tyr851* stop_gained ABCC12 1 83098 1.2034E-5 41549 0 NA
16-48139174-A-G p.Val850Ala missense ABCC12 136 83044 0.00163769 41522 0 0.00375
16-48139175-C-T p.Val850Met missense ABCC12 2 83054 2.40807E-5 41527 0 1.6611E-5
16-48139176-A-G p.His849His synonymous ABCC12 2 83038 2.40854E-5 41519 0 8.32529E-6
16-48139200-C-T p.Ala841Ala synonymous ABCC12 3 82814 3.62258E-5 41407 0 4.39045E-5
16-48139201-G-A p.Ala841Val missense ABCC12 4 82772 4.83255E-5 41386 0 6.38794E-5
16-48139202-C-T p.Ala841Thr missense ABCC12 6 82748 7.25093E-5 41374 0 8.07653E-5
16-48139206-G-A p.Val839Val synonymous ABCC12 5 82648 6.04975E-5 41324 0 1.27413E-4
16-48139215-C-G p.Met836Ile missense ABCC12 1 82564 1.21118E-5 41282 0 9.57158E-6
16-48139232-G-A p.Gln831* stop_gained ABCC12 161 82086 0.00196136 41043 0 0.00342041
16-48139244-T-G p.Thr827Pro missense ABCC12 4 81656 4.8986E-5 40828 0 1.30572E-5
16-48141231-A-G c.2475+2T>C splice_donor ABCC12 8 82442 9.70379E-5 41221 0 6.69173E-4
16-48141233-C-G p.Arg825Arg splice_region+synonymous ABCC12 1 82502 1.21209E-5 41251 0 NA
16-48141235-G-T p.Arg825Arg splice_region+synonymous ABCC12 1 82512 1.21194E-5 41256 0 NA
16-48141235-G-A p.Arg825Trp missense+splice_region ABCC12 3 82512 3.63583E-5 41256 0 1.98889E-5
16-48141284-G-A p.Ser808Ser synonymous ABCC12 5 82610 6.05254E-5 41305 0 1.15369E-4
16-48141288-C-T p.Gly807Asp missense ABCC12 1 82602 1.21062E-5 41301 0 NA
16-48141311-C-T p.Val799Val synonymous ABCC12 1 82462 1.21268E-5 41231 0 3.97738E-6
16-48141315-G-A p.Thr798Ile missense ABCC12 11 82416 1.33469E-4 41208 0 6.05173E-4
16-48141329-G-T p.Leu793Leu synonymous ABCC12 2 82264 2.4312E-5 41132 0 NA
16-48141333-T-C p.Tyr792Cys missense ABCC12 2 82006 2.43885E-5 41003 0 1.89766E-4
16-48141335-C-T p.Gly791Gly splice_region+synonymous ABCC12 2 82112 2.4357E-5 41056 0 NA
16-48141335-C-A p.Gly791Gly splice_region+synonymous ABCC12 2 82112 2.4357E-5 41056 0 5.03525E-4
16-48141338-T-C c.2372-2A>G splice_acceptor ABCC12 1 82032 1.21904E-5 41016 0 7.95988E-6
16-48142344-A-G c.2371+7T>C splice_region ABCC12 1 82820 1.20744E-5 41410 0 3.1839E-5
16-48142359-G-A p.Ala788Val missense ABCC12 2 82948 2.41115E-5 41474 0 8.26009E-6
16-48142364-A-G p.Ile786Ile synonymous ABCC12 1 82976 1.20517E-5 41488 0 NA
16-48142370-C-T p.Thr784Thr synonymous ABCC12 20 82988 2.40999E-4 41494 0 5.03525E-4
16-48142382-T-C p.Lys780Lys synonymous ABCC12 4 82994 4.81963E-5 41497 0 3.1839E-5
16-48142393-C-T p.Val777Met missense ABCC12 4 82934 4.82311E-5 41467 0 3.57987E-5
16-48142429-G-T p.Gln765Lys missense ABCC12 3 82242 3.64777E-5 41121 0 3.5852E-5
16-48145356-C-T p.Asp758Asn missense ABCC12 2 83268 2.40188E-5 41634 0 NA
16-48145356-C-A p.Asp758Tyr missense ABCC12 4 83268 4.80377E-5 41634 0 0.00100705
16-48145364-T-C p.Glu755Gly missense ABCC12 1 83278 1.2008E-5 41639 0 NA
16-48145372-T-C p.Thr752Thr synonymous ABCC12 8 83286 9.60546E-5 41643 0 0.0020141
16-48145380-A-C p.Ser750Ala missense ABCC12 3 83286 3.60205E-5 41643 0 3.18512E-5
16-48145401-C-A p.Glu743* stop_gained ABCC12 2 83300 2.40096E-5 41650 0 1.64728E-5
16-48145403-T-C p.Asn742Ser missense ABCC12 1 83306 1.20039E-5 41653 0 NA
16-48145410-G-A p.Pro740Ser missense ABCC12 3 83306 3.60118E-5 41653 0 NA
16-48145412-G-T p.Ala739Asp missense ABCC12 2 83300 2.40096E-5 41650 0 NA
16-48145490-G-A p.Ile736Ile splice_region+synonymous ABCC12 1 83374 1.19941E-5 41687 0 1.98828E-5
16-48145497-C-T c.*225+1G>A splice_donor ABCC12 53 83384 6.35614E-4 41692 0 3.70645E-4
16-48145529-C-T p.Lys723Lys synonymous ABCC12 2 83390 2.39837E-5 41695 0 NA
16-48145561-G-A p.Leu713Phe missense ABCC12 8 83388 9.59371E-5 41694 0 0.00302115
16-48145567-C-T p.Glu711Lys missense ABCC12 1 83380 1.19933E-5 41690 0 7.95425E-6
16-48145575-T-C c.2125-2A>G splice_acceptor ABCC12 3 83374 3.59824E-5 41687 0 NA
16-48145576-G-A c.2125-3C>T splice_region ABCC12 1 83372 1.19944E-5 41686 0 1.7102E-4
16-48145577-G-T c.2125-4C>A splice_region ABCC12 1 83374 1.19941E-5 41687 0 NA
16-48145581-C-T c.2125-8G>A splice_region ABCC12 1 83370 1.19947E-5 41685 0 6.58924E-5
16-48145688-T-C p.Lys708Arg missense+splice_region ABCC12 1 83360 1.19962E-5 41680 0 3.97725E-6
16-48145703-C-T p.Arg703Gln missense ABCC12 1 83370 1.19947E-5 41685 0 8.23737E-6
16-48145704-G-A p.Arg703* stop_gained ABCC12 5 83368 5.9975E-5 41684 0 5.4185E-4
16-48145704-G-C p.Arg703Gly missense ABCC12 1 83368 1.1995E-5 41684 0 8.2375E-6
16-48145705-C-T p.Leu702Leu synonymous ABCC12 1 83366 1.19953E-5 41683 0 NA
16-48145712-T-C p.His700Arg missense ABCC12 2 83368 2.399E-5 41684 0 1.19295E-5
16-48145714-A-G p.Ile699Ile synonymous ABCC12 1 83362 1.19959E-5 41681 0 2.47117E-5
16-48145714-A-T p.Ile699Ile synonymous ABCC12 1 83362 1.19959E-5 41681 0 NA
16-48145731-G-A p.Arg694Cys missense ABCC12 1 83356 1.19967E-5 41678 0 1.48282E-4
16-48145735-T-C p.Arg692Arg synonymous ABCC12 1 83356 1.19967E-5 41678 0 NA
16-48145736-C-G p.Arg692Thr missense ABCC12 4 83356 4.79869E-5 41678 0 7.95286E-6
16-48145738-C-G p.Glu691Asp missense ABCC12 1 83356 1.19967E-5 41678 0 NA
16-48145742-T-A p.Glu690Val missense ABCC12 1539 83338 0.018467 41669 53 0.0326787
16-48145749-A-C p.Leu688Val missense ABCC12 2 83346 2.39964E-5 41673 0 1.59551E-4
16-48145760-G-T p.Thr684Asn missense ABCC12 1 83340 1.1999E-5 41670 0 5.03525E-4
16-48145773-A-T p.Cys680Ser missense ABCC12 1 83322 1.20016E-5 41661 0 NA
16-48145783-A-G p.Asp676Asp synonymous ABCC12 7 83312 8.40215E-5 41656 0 NA
16-48145784-T-A p.Asp676Val missense ABCC12 2 83302 2.4009E-5 41651 0 3.18613E-5
16-48145789-T-C p.Leu674Leu synonymous ABCC12 3 83280 3.60231E-5 41640 0 NA
16-48145796-A-G p.Ile672Thr missense ABCC12 1 83270 1.20091E-5 41635 0 8.48033E-6
16-48145805-T-C p.Asp669Gly missense ABCC12 1 83206 1.20184E-5 41603 0 NA
16-48145827-G-T c.1990-6C>A splice_region ABCC12 1 82958 1.20543E-5 41479 0 NA
16-48149319-C-T c.1989+7G>A splice_region ABCC12 1 82736 1.20866E-5 41368 0 5.83343E-5
16-48149329-T-C p.Leu662Leu synonymous ABCC12 2 82920 2.41196E-5 41460 0 1.2738E-4
16-48149330-A-G p.Leu662Pro missense ABCC12 1 82942 1.20566E-5 41471 0 NA
16-48149335-G-A p.His660His synonymous ABCC12 2 83004 2.40952E-5 41502 0 3.98004E-6
16-48149341-C-G p.Ter634Serext*? stop_lost ABCC12 1 83056 1.20401E-5 41528 0 2.78547E-5
16-48149349-C-T p.Val656Ile missense ABCC12 5 83144 6.01366E-5 41572 0 6.25E-4
16-48149350-G-A p.Ser631Leu missense ABCC12 1 83164 1.20244E-5 41582 0 1.1936E-5
16-48149360-C-G p.Gly652Ala missense ABCC12 1 83234 1.20143E-5 41617 0 NA
16-48149364-T-C p.Arg651Gly missense ABCC12 1 83252 1.20117E-5 41626 0 NA
16-48149366-A-C p.Leu650Arg missense ABCC12 1 83256 1.20111E-5 41628 0 NA
16-48149369-G-A p.Thr649Met missense ABCC12 325 83258 0.00390353 41629 7 0.0075801
16-48149371-C-G p.Lys648Asn missense ABCC12 4 83276 4.8033E-5 41638 0 2.47211E-5
16-48149382-A-C p.Cys645Gly missense ABCC12 1 83280 1.20077E-5 41640 0 7.95425E-6
16-48149386-C-T p.Arg619Lys missense ABCC12 1 83286 1.20068E-5 41643 0 8.23873E-6
16-48149394-C-T p.Val641Ile missense ABCC12 3 83282 3.60222E-5 41641 0 4.94299E-5
16-48149406-C-A p.Val637Leu missense ABCC12 4 83272 4.80354E-5 41636 0 6.36943E-5
16-48149406-C-T p.Val637Met missense ABCC12 1 83272 1.20088E-5 41636 0 1.27389E-4
16-48149410-G-A p.Pro611Leu missense ABCC12 1 83270 1.20091E-5 41635 0 NA
16-48149412-C-T p.Ala635Thr missense ABCC12 17 83262 2.04175E-4 41631 0 5.05051E-4
16-48149413-G-A p.Thr610Met missense ABCC12 1 83260 1.20106E-5 41630 0 5.04032E-4
16-48149413-G-T p.Asp634Glu missense ABCC12 2 83260 2.40211E-5 41630 0 NA
16-48149418-C-T p.Val633Met missense ABCC12 1 83232 1.20146E-5 41616 0 8.239E-6
16-48149419-G-A p.Pro608Leu missense ABCC12 1 83238 1.20137E-5 41619 0 4.9434E-5
16-48149422-C-T p.Arg607Gln missense ABCC12 2 83250 2.4024E-5 41625 0 3.29565E-5
16-48149423-G-A p.Ser631Leu missense ABCC12 6 83250 7.20721E-5 41625 0 6.5912E-5
16-48149425-CAG-C p.Leu630fs frameshift ABCC12 71 83256 8.52791E-4 41628 0 6.6879E-4
16-48149431-G-T p.Asp628Glu missense ABCC12 6 83242 7.2079E-5 41621 0 4.11997E-5
16-48149431-G-A p.Thr604Ile missense ABCC12 1 83242 1.20132E-5 41621 0 1.64799E-5
16-48149437-C-T p.Trp602* stop_gained ABCC12 3 83244 3.60386E-5 41622 0 NA
16-48149453-C-T p.Arg621His missense ABCC12 3 83204 3.6056E-5 41602 0 6.59587E-5
16-48149457-C-T p.Asp620Asn missense ABCC12 9 83166 1.08217E-4 41583 2 6.36983E-5
16-48149458-G-A p.Pro595Leu missense ABCC12 3 83152 3.60785E-5 41576 0 6.25E-4
16-48149464-G-C p.Ser593Cys missense ABCC12 3 83142 3.60828E-5 41571 0 3.18674E-5
16-48149464-G-A p.Ser593Phe missense ABCC12 4 83142 4.81105E-5 41571 0 8.25614E-6
16-48149467-A-G p.Leu592Pro missense ABCC12 2402 83030 0.0289293 41515 188 0.0596035
16-48149469-CGC-AGT p.ArgAla615HisSer missense ABCC12 5 83062 6.0196E-5 41531 0 NA
16-48149469-C-T p.Ala616Thr missense ABCC12 1 83062 1.20392E-5 41531 0 2.47909E-5
16-48149469-C-A p.Ala616Ser missense ABCC12 1 83062 1.20392E-5 41531 0 NA
16-48149470-G-A p.Ala591Val missense ABCC12 2 83042 2.40842E-5 41521 0 6.37349E-5
16-48149471-C-T p.Arg615His missense ABCC12 4 83040 4.81696E-5 41520 0 2.78638E-5
16-48149472-G-A p.Arg615Cys missense ABCC12 4 83028 4.81765E-5 41514 0 3.18613E-5
16-48149474-G-C p.Ala614Gly missense ABCC12 6 83006 7.22839E-5 41503 0 3.50399E-4
16-48149484-T-A p.Ile611Phe missense ABCC12 3 82852 3.62091E-5 41426 0 6.25E-4
16-48149488-C-A p.Gln609His missense ABCC12 4 82802 4.8308E-5 41401 0 7.9804E-6
16-48149498-C-T p.Gly606Glu missense ABCC12 1 82418 1.21333E-5 41209 0 8.39631E-6
16-48149501-C-G p.Gly605Ala missense ABCC12 2 82388 2.42754E-5 41194 0 5.03525E-4
16-48149506-G-A p.Ser579Phe missense ABCC12 1 82250 1.21581E-5 41125 0 8.53228E-6
16-48149507-A-G p.Leu603Pro missense ABCC12 1 82204 1.21649E-5 41102 0 1.71057E-5
16-48149508-G-A p.Leu603Phe missense ABCC12 3 82186 3.65026E-5 41093 0 3.20603E-5
16-48149508-G-C p.Leu603Val missense ABCC12 1 82186 1.21675E-5 41093 0 1.71506E-5
16-48149509-G-A p.Thr578Ile missense ABCC12 1 82138 1.21746E-5 41069 0 NA
16-48149515-G-A p.Ala576Val missense ABCC12 1 81784 1.22273E-5 40892 0 NA
16-48149517-C-T p.Gly600Ser missense ABCC12 1 81684 1.22423E-5 40842 0 8.9125E-6
16-48149520-G-A p.Arg599Trp missense ABCC12 4 81328 4.91836E-5 40664 0 0.00100705
16-48149523-C-T p.Glu598Lys missense ABCC12 1 81238 1.23095E-5 40619 0 3.18613E-5
16-48149528-A-G p.Ile596Thr missense+splice_region ABCC12 6 81066 7.40138E-5 40533 0 1.59357E-4
16-48149530-CTGTGGA-C c.1786-7_1786-2delTCCACA splice_acceptor ABCC12 1 81008 1.23445E-5 40504 0 NA
16-48149536-A-ACC c.1786-8_1786-7insGG splice_region ABCC12 1 80740 1.23854E-5 40370 0 NA
16-48151165-C-T c.1785+7G>A splice_region ABCC12 63 78104 8.06617E-4 39052 0 0.00184678
16-48151183-C-G p.Asp592His missense ABCC12 1 79290 1.26119E-5 39645 0 NA
16-48151187-A-G p.Tyr590Tyr synonymous ABCC12 2 79306 2.52188E-5 39653 0 NA
16-48151196-G-A p.Asn587Asn synonymous ABCC12 1 79424 1.25907E-5 39712 0 NA
16-48151198-T-A p.Asn587Tyr missense ABCC12 1186 79354 0.0149457 39677 49 0.0314153
16-48151199-G-T p.Ser586Arg missense ABCC12 10 79394 1.25954E-4 39697 0 2.2293E-4
16-48151202-C-T p.Leu585Leu synonymous ABCC12 3 79398 3.77843E-5 39699 0 1.59834E-5
16-48151205-G-C p.Asp584Glu missense ABCC12 1 79314 1.26081E-5 39657 0 NA
16-48151211-C-G p.Gln582His missense ABCC12 1 79240 1.26199E-5 39620 0 NA
16-48151217-G-C p.Gly580Gly synonymous ABCC12 1 79128 1.26378E-5 39564 0 NA
16-48151221-C-A p.Cys579Phe missense ABCC12 6 79042 7.5909E-5 39521 0 6.37064E-5
16-48151222-A-G p.Cys579Arg missense ABCC12 1 78992 1.26595E-5 39496 0 3.18552E-5
16-48151225-C-T p.Val578Ile missense ABCC12 13 78726 1.6513E-4 39363 0 1.05686E-4
16-48151226-G-A p.Arg577Arg synonymous ABCC12 1 78518 1.27359E-5 39259 0 1.20039E-5
16-48151227-C-T p.Arg577His missense ABCC12 2 78444 2.54959E-5 39222 0 2.00066E-5
16-48151228-G-A p.Arg577Cys missense ABCC12 1 78456 1.2746E-5 39228 0 7.20536E-5
16-48151237-G-A p.His574Tyr missense ABCC12 1 77924 1.2833E-5 38962 0 3.18471E-5
16-48151251-G-A c.1713-7C>T splice_region ABCC12 1 76146 1.31327E-5 38073 0 9.05699E-6
16-48155621-T-C c.1712+6A>G splice_region ABCC12 1 83122 1.20305E-5 41561 0 3.1837E-5
16-48155630-T-G p.Gln570Pro missense ABCC12 3 83184 3.60646E-5 41592 0 2.47733E-5
16-48155648-C-T p.Gly564Glu missense ABCC12 1 83292 1.2006E-5 41646 0 6.36862E-5
16-48155658-T-C p.Ile561Val missense ABCC12 2 83324 2.40027E-5 41662 0 4.94698E-5
16-48155669-A-C p.Val557Gly missense ABCC12 5 83342 5.99938E-5 41671 0 0.00125
16-48155674-TCC-AAA p.Gly555Phe missense ABCC12 2 83342 2.39975E-5 41671 0 NA
16-48155680-A-G p.Phe553Phe synonymous ABCC12 47 83346 5.63914E-4 41673 0 6.50967E-4
16-48155686-C-CCATG p.Trp551fs frameshift ABCC12 1 83352 1.19973E-5 41676 0 3.977E-6
16-48155695-C-T p.Gln548Gln synonymous ABCC12 1 83356 1.19967E-5 41678 0 NA
16-48155703-C-T p.Val546Ile missense ABCC12 1 83362 1.19959E-5 41681 0 2.47154E-5
16-48155709-C-T p.Ala544Thr missense ABCC12 6 83358 7.19787E-5 41679 0 1.47138E-4
16-48155710-CA-C p.Leu543fs frameshift ABCC12 1 83358 1.19964E-5 41679 0 NA
16-48155715-T-C p.Thr542Ala missense ABCC12 1 83358 1.19964E-5 41679 0 NA
16-48155716-TC-T p.Gly541fs frameshift ABCC12 1 83356 1.19967E-5 41678 0 3.97684E-6
16-48155734-CC-TT p.Gly535Glu missense ABCC12 1 83340 1.1999E-5 41670 0 NA
16-48155734-C-T p.Gly535Gly synonymous ABCC12 1 83340 1.1999E-5 41670 0 6.36659E-5
16-48155737-T-C p.Lys534Lys synonymous ABCC12 3 83348 3.59937E-5 41674 0 1.64788E-5
16-48155758-C-A c.1588-7G>T splice_region ABCC12 1 83312 1.20031E-5 41656 0 6.36902E-5
16-48158152-C-T p.Ser520Asn missense ABCC12 1 83262 1.20103E-5 41631 0 3.97627E-6
16-48158157-T-A p.Gly518Gly synonymous ABCC12 1 83256 1.20111E-5 41628 0 NA
16-48158159-C-T p.Gly518Arg missense ABCC12 4 83260 4.80423E-5 41630 0 3.97624E-6
16-48158160-A-G p.Ser517Ser synonymous ABCC12 2 83250 2.4024E-5 41625 0 NA
16-48158164-C-T p.Gly516Glu missense ABCC12 4 83240 4.80538E-5 41620 0 1.59052E-5
16-48158165-C-A p.Gly516* stop_gained ABCC12 1 83230 1.20149E-5 41615 0 8.23655E-6
16-48158166-C-T p.Val515Val synonymous ABCC12 1 83234 1.20143E-5 41617 0 NA
16-48158174-C-T p.Gly513Arg missense ABCC12 1 83228 1.20152E-5 41614 0 3.18573E-5
16-48158185-A-G p.Leu509Ser missense ABCC12 2 83188 2.40419E-5 41594 0 NA
16-48158191-T-C p.Lys507Arg missense ABCC12 4 83144 4.81093E-5 41572 0 2.18712E-4
16-48158197-T-A c.1516-2A>T splice_acceptor ABCC12 2 83106 2.40657E-5 41553 0 6.25E-4
16-48158199-C-T c.1516-4G>A splice_region ABCC12 1 83094 1.20346E-5 41547 0 NA
16-48162372-T-G p.Lys505Gln missense+splice_region ABCC12 2 83338 2.39987E-5 41669 0 3.1837E-5
16-48162381-C-T p.Val502Met missense ABCC12 3 83360 3.59885E-5 41680 0 3.1839E-5
16-48162396-G-A p.His497Tyr missense ABCC12 1 83368 1.1995E-5 41684 0 0.00125
16-48162403-C-A p.Ser494Ser synonymous ABCC12 3 83378 3.59807E-5 41689 0 8.23737E-6
16-48162403-C-T p.Ser494Ser synonymous ABCC12 1 83378 1.19936E-5 41689 0 4.77209E-5
16-48162407-T-C p.Lys493Arg missense ABCC12 1 83384 1.19927E-5 41692 0 1.98831E-5
16-48162430-T-G p.Pro485Pro synonymous ABCC12 1 83396 1.1991E-5 41698 0 NA
16-48162439-G-A p.Ala482Ala synonymous ABCC12 1 83402 1.19901E-5 41701 0 NA
16-48162441-C-A p.Ala482Ser missense ABCC12 2 83404 2.39797E-5 41702 0 NA
16-48162445-C-T p.Lys480Lys synonymous ABCC12 1 83406 1.19895E-5 41703 0 7.95305E-6
16-48162453-G-A p.Pro478Ser missense ABCC12 1 83396 1.1991E-5 41698 0 2.47125E-5
16-48162461-C-T p.Arg475Lys missense ABCC12 1 83398 1.19907E-5 41699 0 NA
16-48162491-T-C p.Lys465Arg missense ABCC12 1 83398 1.19907E-5 41699 0 5.03525E-4
16-48162496-T-C p.Leu463Leu synonymous ABCC12 1 83406 1.19895E-5 41703 0 1.19299E-5
16-48162525-T-C p.Lys454Glu missense ABCC12 1 83390 1.19918E-5 41695 0 8.23696E-6
16-48162540-T-C p.Arg449Gly missense ABCC12 1 83392 1.19916E-5 41696 0 6.36699E-5
16-48162551-T-G p.His445Pro missense ABCC12 1 83388 1.19921E-5 41694 0 NA
16-48162551-T-C p.His445Arg missense ABCC12 1 83388 1.19921E-5 41694 0 NA
16-48162553-C-G p.Glu444Asp missense ABCC12 1 83386 1.19924E-5 41693 0 3.1835E-5
16-48162575-G-T p.Ala437Glu missense ABCC12 2 83376 2.39877E-5 41688 0 NA
16-48162576-C-T p.Ala437Thr missense ABCC12 4 83376 4.79754E-5 41688 0 8.23655E-6
16-48162593-T-A p.Asp431Val missense ABCC12 1 83358 1.19964E-5 41679 0 NA
16-48162599-T-C p.Asp429Gly missense ABCC12 7 83338 8.39953E-5 41669 0 6.25E-4
16-48162599-T-A p.Asp429Val missense ABCC12 1 83340 1.1999E-5 41670 0 3.1837E-5
16-48162603-C-A p.Glu428* stop_gained ABCC12 1 83336 1.19996E-5 41668 0 NA
16-48162615-T-C p.Ile424Val missense ABCC12 4 83304 4.80169E-5 41652 0 NA
16-48162622-T-TG p.Ser422fs frameshift ABCC12 1 83282 1.20074E-5 41641 0 NA
16-48162639-T-C p.Ile416Val missense ABCC12 27 83168 3.24644E-4 41584 0 1.28005E-4
16-48162645-T-A p.Ile414Phe missense ABCC12 1 83082 1.20363E-5 41541 0 NA
16-48164696-T-C c.1236+3A>G splice_region ABCC12 2 81698 2.44804E-5 40849 0 8.2713E-6
16-48164697-A-G c.1236+2T>C splice_donor ABCC12 2 81732 2.44702E-5 40866 0 8.26993E-6
16-48164723-C-T p.Ala404Ala synonymous ABCC12 1 82414 1.21339E-5 41207 0 3.29946E-5
16-48164724-G-A p.Ala404Val missense ABCC12 2 82432 2.42624E-5 41216 0 0.00125
16-48164737-C-T p.Ala400Thr missense ABCC12 2 82620 2.42072E-5 41310 0 3.18431E-5
16-48164743-T-C p.Ile398Val missense ABCC12 1 82620 1.21036E-5 41310 0 NA
16-48164749-AG-A p.Phe396fs frameshift ABCC12 4 82662 4.83898E-5 41331 0 5.03525E-4
16-48164751-G-C p.Pro395Arg missense ABCC12 1 82642 1.21004E-5 41321 0 NA
16-48164753-C-A p.Leu394Phe missense ABCC12 1 82642 1.21004E-5 41321 0 NA
16-48164764-T-C p.Ile391Val missense ABCC12 1 82646 1.20998E-5 41323 0 2.47741E-5
16-48164767-A-G p.Ser390Pro missense ABCC12 4 82640 4.84027E-5 41320 0 5.03525E-4
16-48164772-T-C p.Lys388Arg missense ABCC12 1 82606 1.21057E-5 41303 0 9.5511E-5
16-48164777-T-C p.Val386Val synonymous ABCC12 20556 81996 0.250695 40998 2959 0.348125
16-48164799-C-T p.Ser379Asn missense ABCC12 1 82152 1.21726E-5 41076 0 3.99517E-6
16-48164802-A-C p.Phe378Cys missense ABCC12 1 82052 1.21874E-5 41026 0 3.99795E-6
16-48164806-C-A p.Ala377Ser missense+splice_region ABCC12 3 81912 3.66247E-5 40956 0 1.76566E-5
16-48167600-C-T p.Val376Met missense+splice_region ABCC12 2 83308 2.40073E-5 41654 0 4.1325E-5
16-48167601-G-A p.Pro375Pro synonymous ABCC12 8 83308 9.60292E-5 41654 0 1.19501E-5
16-48167603-G-A p.Pro375Ser missense ABCC12 1 83310 1.20034E-5 41655 0 8.2575E-6
16-48167606-C-T p.Ala374Thr missense ABCC12 1 83330 1.20005E-5 41665 0 3.19061E-5
16-48167607-G-A p.Thr373Thr synonymous ABCC12 3 83336 3.59988E-5 41668 0 2.47513E-5
16-48167610-G-A p.Leu372Leu synonymous ABCC12 7 83328 8.40054E-5 41664 0 4.7765E-5
16-48167612-G-A p.Leu372Phe missense ABCC12 2 83334 2.39998E-5 41667 0 3.97937E-6
16-48167618-G-A p.Arg370Cys missense ABCC12 14 83340 1.67987E-4 41670 0 5.03525E-4
16-48167622-C-CAGG p.Leu368dup disruptive_inframe_insertion ABCC12 1 83350 1.19976E-5 41675 0 3.97848E-6
16-48167638-G-T p.Ser363Tyr missense ABCC12 1 83366 1.19953E-5 41683 0 NA
16-48167651-C-T p.Val359Met missense ABCC12 7 83348 8.39852E-5 41674 0 6.59131E-5
16-48167652-G-A p.Ile358Ile synonymous ABCC12 2 83352 2.39946E-5 41676 0 7.95507E-6
16-48167656-G-T p.Ala357Asp missense ABCC12 3 83354 3.59911E-5 41677 0 NA
16-48167657-C-T p.Ala357Thr missense ABCC12 42 83350 5.03899E-4 41675 0 6.25E-4
16-48167657-C-CTATGGTG p.Ala357fs frameshift ABCC12 1 83352 1.19973E-5 41676 0 NA
16-48167669-C-T p.Val353Met missense ABCC12 1 83370 1.19947E-5 41685 0 3.18735E-5
16-48167671-A-C p.Ile352Ser missense ABCC12 3 83374 3.59824E-5 41687 0 9.062E-5
16-48167671-A-G p.Ile352Thr missense ABCC12 3 83374 3.59824E-5 41687 0 0.00105183
16-48167672-T-C p.Ile352Val missense ABCC12 2 83374 2.39883E-5 41687 0 5.03525E-4
16-48167674-G-C p.Pro351Arg missense ABCC12 2 83372 2.39889E-5 41686 0 3.29533E-5
16-48167683-G-A p.Ala348Val missense ABCC12 3 83382 3.5979E-5 41691 0 NA
16-48167700-G-A p.Val342Val synonymous ABCC12 2 83388 2.39843E-5 41694 0 0.00100705
16-48167738-T-C p.Arg330Gly missense ABCC12 1 83348 1.19979E-5 41674 0 NA
16-48167744-T-C p.Ile328Val missense+splice_region ABCC12 1 83330 1.20005E-5 41665 0 3.97845E-6
16-48167747-C-A c.980-1G>T splice_acceptor ABCC12 1 83334 1.19999E-5 41667 0 NA
16-48172135-C-T c.979+4G>A splice_region ABCC12 3 83172 3.60698E-5 41586 0 2.53816E-5
16-48172140-T-C p.Gln326Gln splice_region+synonymous ABCC12 2 83256 2.40223E-5 41628 0 8.40802E-6
16-48172141-T-G p.Gln326Pro missense+splice_region ABCC12 1 83256 1.20111E-5 41628 0 NA
16-48172149-G-A p.Asn323Asn synonymous ABCC12 25 83306 3.00098E-4 41653 0 0.00503525
16-48172149-GT-G p.Asn323fs frameshift ABCC12 1 83306 1.20039E-5 41653 0 3.33467E-5
16-48172160-A-T p.Ser320Thr missense ABCC12 1 83338 1.19993E-5 41669 0 NA
16-48172171-G-A p.Ala316Val missense ABCC12 3 83334 3.59997E-5 41667 0 1.23895E-4
16-48172173-A-G p.Tyr315Tyr synonymous ABCC12 1 83330 1.20005E-5 41665 0 NA
16-48172175-A-G p.Tyr315His missense ABCC12 1 83326 1.20011E-5 41663 0 4.95237E-5
16-48172183-A-T p.Ile312Asn missense ABCC12 5 83328 6.00038E-5 41664 0 9.94922E-5
16-48172185-C-A p.Leu311Leu synonymous ABCC12 694 83322 0.00832913 41661 23 0.0176126
16-48172186-A-G p.Leu311Pro missense ABCC12 2 83328 2.40015E-5 41664 0 NA
16-48172196-A-G p.Cys308Arg missense ABCC12 1 83336 1.19996E-5 41668 0 3.18471E-5
16-48172197-G-A p.Thr307Thr synonymous ABCC12 6 83338 7.1996E-5 41669 0 3.97744E-5
16-48172202-GA-G p.Leu306fs frameshift ABCC12 1 83338 1.19993E-5 41669 0 3.18431E-5
16-48172203-A-G p.Phe305Phe synonymous ABCC12 1 83336 1.19996E-5 41668 0 NA
16-48172207-T-TGCTTTGTCTGACCTCGCTTGTCAGA p.Glu304fs frameshift ABCC12 1 83340 1.1999E-5 41670 0 3.1837E-5
16-48172213-A-T p.Met302Lys missense ABCC12 1 83332 1.20002E-5 41666 0 NA
16-48172224-T-C p.Arg298Arg synonymous ABCC12 1 83324 1.20013E-5 41662 0 3.1835E-5
16-48172225-C-T p.Arg298Gln missense ABCC12 1 83324 1.20013E-5 41662 0 5.03525E-4
16-48172226-G-A p.Arg298* stop_gained ABCC12 16 83324 1.92021E-4 41662 0 3.82093E-4
16-48172227-C-T p.Lys297Lys synonymous ABCC12 2 83326 2.40021E-5 41663 0 1.64829E-5
16-48172264-G-A p.Gln277* stop_gained ABCC12 1 83272 1.20088E-5 41636 0 NA
16-48172272-C-T p.Ser274Asn missense ABCC12 1 83252 1.20117E-5 41626 0 1.65377E-5
16-48172277-C-T p.Trp272* stop_gained ABCC12 1 83214 1.20172E-5 41607 0 3.98343E-6
16-48172280-T-C p.Met280Val missense ABCC12 1 83194 1.20201E-5 41597 0 2.48616E-5
16-48173066-G-C c.831+8C>G splice_region ABCC12 1 83228 1.20152E-5 41614 0 NA
16-48173069-G-A c.831+5C>T splice_region ABCC12 1 83252 1.20117E-5 41626 0 3.18471E-5
16-48173077-G-C p.Val276Val synonymous ABCC12 1 83276 1.20083E-5 41638 0 4.36479E-6
16-48173081-G-T p.Pro275His missense ABCC12 1 83314 1.20028E-5 41657 0 NA
16-48173084-A-G p.Ile274Thr missense ABCC12 1 83312 1.20031E-5 41656 0 NA
16-48173087-A-T p.Phe273Tyr missense ABCC12 1 83332 1.20002E-5 41666 0 NA
16-48173087-A-C p.Phe273Cys missense ABCC12 1 83332 1.20002E-5 41666 0 4.14814E-6
16-48173091-T-A p.Ile272Leu missense ABCC12 2 83340 2.39981E-5 41670 0 NA
16-48173101-T-G p.Ser268Ser splice_region+synonymous ABCC12 7 83352 8.39812E-5 41676 0 7.61169E-5
16-48173109-C-T p.Gly266Arg missense ABCC12 1 83350 1.19976E-5 41675 0 NA
16-48173109-C-G p.Gly266Arg missense ABCC12 1 83350 1.19976E-5 41675 0 1.19908E-5
16-48173115-G-A p.Leu264Phe missense ABCC12 2 83356 2.39935E-5 41678 0 NA
16-48173117-G-C p.Ala263Gly missense ABCC12 26 83360 3.119E-4 41680 0 6.36902E-4
16-48173122-G-C p.Pro261Pro synonymous ABCC12 1 83364 1.19956E-5 41682 0 NA
16-48173125-C-T p.Gly260Gly synonymous ABCC12 1 83362 1.19959E-5 41681 0 3.18695E-5
16-48173126-C-A p.Gly260Val missense ABCC12 305 83354 0.00365909 41677 7 0.00710916
16-48173130-G-T p.Leu259Met missense ABCC12 1 83360 1.19962E-5 41680 0 NA
16-48173133-T-C p.Ile258Val missense ABCC12 4 83362 4.79835E-5 41681 0 3.2975E-5
16-48173135-A-G p.Phe257Ser missense ABCC12 4 83360 4.79846E-5 41680 0 8.2447E-6
16-48173143-G-A p.Tyr254Tyr synonymous ABCC12 3 83362 3.59876E-5 41681 0 7.95729E-6
16-48173146-C-T p.Ala253Ala synonymous ABCC12 2 83362 2.39917E-5 41681 0 2.47247E-5
16-48173148-C-T p.Ala253Thr missense ABCC12 1 83362 1.19959E-5 41681 0 NA
16-48173159-A-G p.Val249Ala missense ABCC12 8 83362 9.5967E-5 41681 0 5.76834E-5
16-48173166-G-A p.Leu247Leu synonymous ABCC12 15 83362 1.79938E-4 41681 0 2.22501E-4
16-48173169-T-C p.Ile246Val missense ABCC12 17 83360 2.03935E-4 41680 0 5.19185E-4
16-48173178-TG-T p.Thr243fs frameshift ABCC12 1 83368 1.1995E-5 41684 0 3.18451E-5
16-48173190-G-A p.Pro239Ser missense ABCC12 1 83368 1.1995E-5 41684 0 8.24688E-6
16-48173191-A-G p.Cys238Cys synonymous ABCC12 1 83366 1.19953E-5 41683 0 NA
16-48173194-A-G p.Phe237Phe synonymous ABCC12 2 83362 2.39917E-5 41681 0 NA
16-48173198-A-C p.Leu236Trp missense ABCC12 1 83364 1.19956E-5 41682 0 2.47623E-5
16-48173200-G-T p.Ala235Ala synonymous ABCC12 1 83364 1.19956E-5 41682 0 8.25641E-6
16-48173201-G-T p.Ala235Asp missense ABCC12 1 83358 1.19964E-5 41679 0 NA
16-48173234-A-G p.Leu224Pro missense ABCC12 25 83332 3.00005E-4 41666 0 1.93225E-4
16-48173240-T-C p.Asn222Ser missense ABCC12 1 83314 1.20028E-5 41657 0 4.18302E-6
16-48173246-A-G p.Val220Ala missense+splice_region ABCC12 5 83266 6.00485E-5 41633 0 6.36821E-5
16-48173253-A-C c.658-6T>G splice_region ABCC12 1 83244 1.20129E-5 41622 0 9.37782E-5
16-48173255-G-A c.658-8C>T splice_region ABCC12 4 83220 4.80654E-5 41610 0 9.55353E-5
16-48173255-G-T c.658-8C>A splice_region ABCC12 3 83220 3.6049E-5 41610 0 6.25E-4
16-48174599-T-C p.Glu219Gly missense+splice_region ABCC12 1 83090 1.20351E-5 41545 0 3.98356E-6
16-48174600-C-T p.Glu219Lys missense+splice_region ABCC12 2 83104 2.40662E-5 41552 0 1.59337E-5
16-48174601-G-A p.Gly218Gly synonymous ABCC12 2 83108 2.40651E-5 41554 0 4.17362E-5
16-48174616-G-C p.Thr213Thr synonymous ABCC12 1 83208 1.20181E-5 41604 0 NA
16-48174625-C-G p.Lys210Asn missense ABCC12 1 83248 1.20123E-5 41624 0 8.2765E-6
16-48174632-G-T p.Ser208Tyr missense ABCC12 1 83282 1.20074E-5 41641 0 NA
16-48174634-C-G p.Val207Val synonymous ABCC12 1 83288 1.20065E-5 41644 0 3.1841E-5
16-48174637-T-C p.Leu206Leu synonymous ABCC12 2 83306 2.40079E-5 41653 0 3.97719E-6
16-48174640-G-A p.Asn205Asn synonymous ABCC12 1 83306 1.20039E-5 41653 0 6.25E-4
16-48174652-C-T p.Leu201Leu synonymous ABCC12 1 83316 1.20025E-5 41658 0 NA
16-48174653-A-G p.Leu201Ser missense ABCC12 1 83316 1.20025E-5 41658 0 NA
16-48174663-G-A p.Leu198Phe missense ABCC12 1 83318 1.20022E-5 41659 0 NA
16-48174664-C-T p.Ala197Ala synonymous ABCC12 16 83326 1.92017E-4 41663 0 6.25E-4
16-48174664-C-A p.Ala197Ala synonymous ABCC12 1 83326 1.20011E-5 41663 0 5.96516E-5
16-48174665-G-A p.Ala197Val missense ABCC12 5 83324 6.00067E-5 41662 0 6.59511E-5
16-48174665-G-T p.Ala197Glu missense ABCC12 1 83324 1.20013E-5 41662 0 8.24389E-6
16-48174667-C-T p.Val196Val synonymous ABCC12 2 83330 2.4001E-5 41665 0 NA
16-48174677-C-T p.Arg193Gln missense ABCC12 8 83348 9.59831E-5 41674 0 6.59326E-5
16-48174684-C-T p.Ala191Thr missense ABCC12 1 83338 1.19993E-5 41669 0 NA
16-48174686-G-A p.Thr190Met missense ABCC12 8 83344 9.59877E-5 41672 0 0.001875
16-48174688-G-A p.Arg189Arg synonymous ABCC12 1 83340 1.1999E-5 41670 0 NA
16-48174689-C-T p.Arg189His missense ABCC12 1 83338 1.19993E-5 41669 0 5.03525E-4
16-48174693-A-G p.Tyr188His missense ABCC12 4 83344 4.79939E-5 41672 0 1.91046E-4
16-48174710-A-G p.Leu182Pro missense ABCC12 1 83338 1.19993E-5 41669 0 8.23805E-6
16-48174713-G-T p.Ala181Asp missense ABCC12 1 83330 1.20005E-5 41665 0 NA
16-48174714-C-T p.Ala181Thr missense ABCC12 1 83334 1.19999E-5 41667 0 NA
16-48174729-T-G p.Lys176Gln missense ABCC12 1 83318 1.20022E-5 41659 0 3.97681E-6
16-48174729-T-C p.Lys176Glu missense ABCC12 2 83318 2.40044E-5 41659 0 7.41485E-5
16-48174738-C-T p.Glu173Lys missense ABCC12 8 83294 9.60453E-5 41647 0 3.19734E-5
16-48174739-G-T p.Thr172Thr synonymous ABCC12 215 83284 0.00258153 41642 1 0.00460888
16-48174739-G-A p.Thr172Thr synonymous ABCC12 1 83292 1.2006E-5 41646 0 3.20061E-5
16-48174740-G-A p.Thr172Ile missense ABCC12 1 83294 1.20057E-5 41647 0 NA
16-48174743-GC-G p.Ala171fs frameshift ABCC12 3 83282 3.60222E-5 41641 0 6.40041E-5
16-48174760-C-T p.Leu165Leu synonymous ABCC12 2 83230 2.40298E-5 41615 0 NA
16-48174763-T-C p.Gly164Gly synonymous ABCC12 5 83214 6.0086E-5 41607 0 8.24974E-6
16-48174765-C-A p.Gly164* stop_gained ABCC12 202 83192 0.00242812 41596 1 0.0110775
16-48174765-C-G p.Gly164Arg missense ABCC12 1 83192 1.20204E-5 41596 0 3.97861E-6
16-48174766-A-G p.Ile163Ile synonymous ABCC12 1246 83168 0.0149817 41584 63 0.0306825
16-48174767-A-G p.Ile163Thr missense ABCC12 3 83190 3.6062E-5 41595 0 4.37675E-5
16-48174772-A-G p.Val161Val synonymous ABCC12 1 83124 1.20302E-5 41562 0 NA
16-48174780-C-T p.Val159Ile missense ABCC12 20 83034 2.40865E-4 41517 0 4.14065E-4
16-48174780-C-A p.Val159Phe missense ABCC12 2 83034 2.40865E-5 41517 0 NA
16-48174782-T-A p.Lys158Ile missense ABCC12 1 83000 1.20482E-5 41500 0 NA
16-48174811-G-T p.Ile148Ile synonymous ABCC12 1 82324 1.21471E-5 41162 0 9.5584E-5
16-48174812-AT-A p.Ile148fs frameshift ABCC12 9 82250 1.09422E-4 41125 0 2.54826E-4
16-48174820-A-G p.Ile145Ile synonymous ABCC12 1 81948 1.22029E-5 40974 0 1.65934E-5
16-48175108-C-T c.427+5G>A splice_region ABCC12 3 82936 3.61725E-5 41468 0 8.35324E-6
16-48175109-G-T c.427+4C>A splice_region ABCC12 2 82954 2.41097E-5 41477 0 8.34669E-6
16-48175110-C-T c.427+3G>A splice_region ABCC12 1 82968 1.20528E-5 41484 0 3.98635E-6
16-48175111-A-C c.427+2T>G splice_donor ABCC12 4 82976 4.82067E-5 41488 0 3.98578E-6
16-48175117-C-T p.Pro141Pro splice_region+synonymous ABCC12 1 83018 1.20456E-5 41509 0 4.98538E-5
16-48175118-G-A p.Pro141Leu missense+splice_region ABCC12 2 83040 2.40848E-5 41520 0 NA
16-48175119-G-GC p.Pro141fs frameshift ABCC12 1 83040 1.20424E-5 41520 0 NA
16-48175120-C-G p.Gly140Gly synonymous ABCC12 2 83052 2.40813E-5 41526 0 8.29229E-6
16-48175125-T-G p.Ile139Leu missense ABCC12 1 83120 1.20308E-5 41560 0 6.37227E-5
16-48175129-T-C p.Ala137Ala synonymous ABCC12 1 83158 1.20253E-5 41579 0 3.97959E-6
16-48175133-A-G p.Met136Thr missense ABCC12 1 83166 1.20241E-5 41583 0 1.19391E-5
16-48175137-T-C p.Ile135Val missense ABCC12 1 83188 1.2021E-5 41594 0 NA
16-48175150-G-GTTGGCCACGATGTCCA p.Ile131fs frameshift ABCC12 5 83226 6.00774E-5 41613 0 NA
16-48175156-C-G p.Val128Val synonymous ABCC12 11 83246 1.32138E-4 41623 0 6.25E-4
16-48175158-C-T p.Val128Met missense ABCC12 2 83240 2.40269E-5 41620 0 2.78408E-5
16-48175173-C-T p.Val123Met missense ABCC12 9 83298 1.08046E-4 41649 0 2.30772E-4
16-48175174-G-A p.Arg122Arg synonymous ABCC12 7 83294 8.40397E-5 41647 0 5.05051E-4
16-48175175-C-T p.Arg122His missense ABCC12 7 83306 8.40276E-5 41653 0 6.25E-4
16-48175176-G-A p.Arg122Cys missense ABCC12 4 83306 4.80158E-5 41653 0 1.59246E-4
16-48175185-G-A p.Gln119* stop_gained ABCC12 3 83326 3.60032E-5 41663 0 6.25E-4
16-48175200-C-T p.Val114Met missense ABCC12 8 83340 9.59923E-5 41670 0 1.91034E-4
16-48175201-G-A p.His113His synonymous ABCC12 1 83336 1.19996E-5 41668 0 0.00100806
16-48175215-C-A p.Ala109Ser missense ABCC12 1 83352 1.19973E-5 41676 0 NA
16-48175231-C-T p.Arg103Arg synonymous ABCC12 2 83348 2.39958E-5 41674 0 1.59085E-5
16-48175234-T-C p.Ala102Ala synonymous ABCC12 1 83344 1.19985E-5 41672 0 8.2394E-6
16-48175235-G-T p.Ala102Glu missense ABCC12 9636 83186 0.115837 41593 882 0.162427
16-48175250-C-T p.Trp97* stop_gained ABCC12 1 83336 1.19996E-5 41668 0 8.24565E-6
16-48175259-C-T p.Arg94Gln missense ABCC12 4 83322 4.80065E-5 41661 0 9.57549E-5
16-48175260-G-A p.Arg94* stop_gained ABCC12 2 83320 2.40038E-5 41660 0 6.38692E-5
16-48175261-A-G p.Phe93Phe synonymous ABCC12 2 83322 2.40033E-5 41661 0 9.90524E-5
16-48175263-AT-A p.Arg92fs frameshift ABCC12 2 83324 2.40027E-5 41662 0 NA
16-48177821-C-A p.Arg92Ile missense+splice_region ABCC12 1 83344 1.19985E-5 41672 0 NA
16-48177821-C-T p.Arg92Lys missense+splice_region ABCC12 1 83344 1.19985E-5 41672 0 NA
16-48177842-G-A p.Ser85Leu missense ABCC12 3 83370 3.59842E-5 41685 0 3.1841E-5
16-48177848-T-G p.Tyr83Ser missense ABCC12 17 83372 2.03905E-4 41686 0 0.00151057
16-48177853-C-T p.Ser81Ser synonymous ABCC12 8 83368 9.59601E-5 41684 0 8.25832E-6
16-48177858-A-G p.Leu80Leu synonymous ABCC12 1 83376 1.19939E-5 41688 0 1.64992E-5
16-48177859-T-C p.Pro79Pro synonymous ABCC12 1 83374 1.19941E-5 41687 0 1.27405E-4
16-48177862-G-A p.Pro78Pro synonymous ABCC12 2 83378 2.39871E-5 41689 0 NA
16-48177876-C-T p.Val74Ile missense ABCC12 189 83368 0.00226706 41684 0 0.00363057
16-48177877-G-A p.Thr73Thr synonymous ABCC12 1 83368 1.1995E-5 41684 0 7.95602E-6
16-48177878-G-A p.Thr73Ile missense ABCC12 7 83374 8.3959E-5 41687 0 3.29707E-5
16-48177890-C-T p.Arg69Gln missense ABCC12 2 83368 2.399E-5 41684 0 6.25E-4
16-48177891-G-A p.Arg69Trp missense ABCC12 8 83366 9.59624E-5 41683 0 1.07165E-4
16-48177896-C-G p.Gly67Ala missense ABCC12 1 83362 1.19959E-5 41681 0 NA
16-48177897-CTT-C p.Lys66fs frameshift ABCC12 584 83360 0.00700576 41680 15 0.0128662
16-48177910-C-T p.Pro62Pro synonymous ABCC12 7 83360 8.39731E-5 41680 0 3.9776E-5
16-48177911-G-A p.Pro62Leu missense ABCC12 5 83356 5.99837E-5 41678 0 1.35236E-4
16-48177911-G-T p.Pro62Gln missense ABCC12 1 83356 1.19967E-5 41678 0 NA
16-48177913-C-T p.Thr61Thr synonymous ABCC12 3 83356 3.59902E-5 41678 0 4.12154E-5
16-48177914-G-A p.Thr61Met missense ABCC12 23 83362 2.75905E-4 41681 0 3.38099E-4
16-48177919-C-T p.Trp59* stop_gained ABCC12 2 83360 2.39923E-5 41680 0 8.24375E-6
16-48177928-T-G p.Thr56Thr synonymous ABCC12 1 83362 1.19959E-5 41681 0 NA
16-48177929-G-A p.Thr56Ile missense ABCC12 1 83358 1.19964E-5 41679 0 3.1841E-5
16-48177933-C-T p.Ala55Thr missense ABCC12 4 83346 4.79927E-5 41673 0 2.78514E-5
16-48177934-G-A p.Phe54Phe synonymous ABCC12 1126 83342 0.0135106 41671 50 0.0291664
16-48177943-T-C p.Leu51Leu synonymous ABCC12 1 83324 1.20013E-5 41662 0 NA
16-48177947-C-T p.Gly50Glu missense ABCC12 1 83278 1.2008E-5 41639 0 3.98181E-6
16-48177948-C-T p.Gly50Arg missense ABCC12 2 83258 2.40217E-5 41629 0 6.62295E-5
16-48177949-G-A p.Ala49Ala synonymous ABCC12 4 83252 4.80469E-5 41626 0 0.00100806
16-48177953-TC-AT p.Asp48Ile missense ABCC12 1 83234 1.20143E-5 41617 0 NA
16-48177959-A-T p.Val46Glu missense ABCC12 2 83164 2.40489E-5 41582 0 NA
16-48177960-C-T p.Val46Met missense ABCC12 1 83188 1.2021E-5 41594 0 NA
16-48177961-C-T p.Pro45Pro synonymous ABCC12 3 83174 3.6069E-5 41587 0 7.50751E-5
16-48177962-G-A p.Pro45Leu missense ABCC12 24 83168 2.88573E-4 41584 0 1.91083E-4
16-48177962-G-C p.Pro45Arg missense ABCC12 2 83168 2.40477E-5 41584 0 NA
16-48177963-G-A p.Pro45Ser missense ABCC12 1 83170 1.20236E-5 41585 0 NA
16-48177977-C-T c.120-1G>A splice_acceptor ABCC12 1 82986 1.20502E-5 41493 0 2.52615E-5
16-48177978-T-C c.120-2A>G splice_acceptor ABCC12 1 82936 1.20575E-5 41468 0 NA
16-48180224-A-G p.Cys38Arg missense ABCC12 2 83096 2.40685E-5 41548 0 3.18532E-5
16-48180230-G-A p.Arg36* stop_gained ABCC12 2 83106 2.40657E-5 41553 0 3.18471E-5
16-48180230-G-T p.Arg36Arg synonymous ABCC12 1 83108 1.20325E-5 41554 0 NA
16-48180236-G-T p.Pro34Thr missense ABCC12 13 83172 1.56303E-4 41586 0 6.25E-4
16-48180260-C-T p.Asp26Asn missense ABCC12 438 83256 0.00526088 41628 4 0.0102866
16-48180262-T-C p.Tyr25Cys missense ABCC12 2 83248 2.40246E-5 41624 0 3.18552E-5
16-48180264-T-A p.Arg24Ser missense ABCC12 1 83248 1.20123E-5 41624 0 8.23669E-6
16-48180267-T-C p.Glu23Glu synonymous ABCC12 1237 83216 0.0148649 41608 65 0.0304971
16-48180278-A-T p.Ser20Thr missense ABCC12 2 83242 2.40263E-5 41621 0 3.18898E-5
16-48180283-C-T p.Arg18Gln missense ABCC12 1 83250 1.2012E-5 41625 0 5.56757E-5
16-48180284-G-A p.Arg18Trp missense ABCC12 22 83246 2.64277E-4 41623 0 0.001875
16-48180286-C-T p.Arg17Gln missense ABCC12 2 83242 2.40263E-5 41621 0 3.29516E-5
16-48180287-G-A p.Arg17Trp missense ABCC12 40 83232 4.80584E-4 41616 0 6.05211E-4
16-48180287-G-T p.Arg17Arg synonymous ABCC12 1 83232 1.20146E-5 41616 0 3.97687E-6
16-48180292-C-T p.Arg15Gln missense ABCC12 1 83236 1.2014E-5 41618 0 9.55231E-5
16-48180293-G-A p.Arg15* stop_gained ABCC12 1 83218 1.20166E-5 41609 0 5.96554E-5
16-48180311-T-G p.Ile9Leu missense ABCC12 1237 83134 0.0148796 41567 65 0.0306883
16-48180317-A-G p.Tyr7His missense ABCC12 1 83164 1.20244E-5 41582 0 3.97735E-6
16-48180320-G-A p.Pro6Ser missense ABCC12 2 83152 2.40523E-5 41576 0 8.23995E-6
16-48180320-G-T p.Pro6Thr missense ABCC12 1 83152 1.20262E-5 41576 0 NA
16-48180324-T-C p.Glu4Glu synonymous ABCC12 1 83134 1.20288E-5 41567 0 2.47215E-5
16-48180328-C-T p.Gly3Asp missense ABCC12 4 83070 4.81522E-5 41535 0 3.29641E-5
16-48180333-C-T p.Met1? start_lost ABCC12 2 83050 2.40819E-5 41525 0 5.03525E-4
16-48180334-A-C p.Met1? start_lost ABCC12 2 83038 2.40854E-5 41519 0 8.24294E-6
16-48180356-C-A c.-21G>T 5_prime_UTR_premature_start_codon_gain ABCC12 1 82778 1.20805E-5 41389 0 NA
16-48180378-C-T c.-43G>A 5_prime_UTR_premature_start_codon_gain ABCC12 1 82124 1.21767E-5 41062 0 NA
16-48180391-G-A c.-50-6C>T splice_region ABCC12 1076 81054 0.0132751 40527 36 0.0305107
16-48180551-G-A c.-216C>T 5_prime_UTR_premature_start_codon_gain ABCC12 2 26264 7.61499E-5 13132 0 6.45161E-4
16-48180660-G-C c.-325C>G 5_prime_UTR_premature_start_codon_gain ABCC12 2 4618 4.33088E-4 2309 0 6.37105E-5