Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-21953990-G-T p.Arg1546Arg synonymous ABCC9 2 83068 2.40767E-5 41534 0 1.65027E-5
12-21953990-G-A p.Arg1546Arg synonymous ABCC9 5 83068 6.01917E-5 41534 0 6.25E-4
12-21953991-C-T p.Arg1546His missense ABCC9 1 83064 1.20389E-5 41532 0 9.55231E-5
12-21953992-G-A p.Arg1546Cys missense ABCC9 1 83056 1.20401E-5 41528 0 1.65E-5
12-21953996-A-G p.Phe1544Phe synonymous ABCC9 1 83070 1.2038E-5 41535 0 3.1837E-5
12-21954009-A-G p.Val1540Ala missense ABCC9 2 83028 2.40883E-5 41514 0 NA
12-21954018-T-G p.Glu1537Ala missense ABCC9 1 83008 1.2047E-5 41504 0 NA
12-21954037-C-G p.Glu1531Gln missense ABCC9 1 82956 1.20546E-5 41478 0 NA
12-21954092-C-T p.Thr1512Thr synonymous ABCC9 1 82792 1.20785E-5 41396 0 2.47329E-5
12-21954093-G-A p.Thr1512Met missense ABCC9 1 82788 1.2079E-5 41394 0 2.47317E-5
12-21954104-G-A p.His1508His synonymous ABCC9 1 82836 1.2072E-5 41418 0 NA
12-21954106-G-A p.His1508Tyr missense ABCC9 3 82832 3.62179E-5 41416 0 NA
12-21954117-T-C c.4513-2A>G splice_acceptor ABCC9 2 82816 2.41499E-5 41408 0 NA
12-21958110-A-C p.Ter1550Gluext*? stop_lost ABCC9 1 83154 1.20259E-5 41577 0 3.97934E-6
12-21958117-G-A p.Thr1547Thr synonymous ABCC9 1 83170 1.20236E-5 41585 0 NA
12-21958127-A-G p.Leu1544Ser missense ABCC9 1 83220 1.20163E-5 41610 0 3.2969E-5
12-21958148-T-C p.Lys1537Arg missense ABCC9 2 83250 2.4024E-5 41625 0 9.55414E-5
12-21958154-GC-TT p.Ala1535Asn missense ABCC9 2 83242 2.40263E-5 41621 0 NA
12-21958156-G-A p.Leu1534Leu synonymous ABCC9 2 83248 2.40246E-5 41624 0 4.12324E-5
12-21958167-G-A p.Pro1531Ser missense ABCC9 5 83242 6.00658E-5 41621 0 2.23129E-4
12-21958182-C-T p.Glu1526Lys missense ABCC9 1 83236 1.2014E-5 41618 0 3.97956E-6
12-21958185-CTA-C p.Leu1524fs frameshift ABCC9 56 83234 6.72802E-4 41617 0 6.4416E-4
12-21958188-A-ATTT p.Ile1523_Leu1524insLys conservative_inframe_insertion ABCC9 57 83240 6.84767E-4 41620 0 6.44298E-4
12-21958199-G-T p.Ser1520Tyr missense ABCC9 1 83216 1.20169E-5 41608 0 1.19412E-5
12-21958221-C-T p.Ala1513Thr missense ABCC9 6 83166 7.21449E-5 41583 0 1.27413E-4
12-21958222-A-G p.Asp1512Asp synonymous ABCC9 3 83168 3.60716E-5 41584 0 3.98197E-6
12-21958237-G-A p.Val1507Val synonymous ABCC9 1 83112 1.2032E-5 41556 0 3.98562E-6
12-21958238-A-T p.Val1507Asp missense ABCC9 1 83112 1.2032E-5 41556 0 NA
12-21958241-C-T p.Arg1506His missense ABCC9 2 83102 2.40668E-5 41551 0 3.18613E-5
12-21958242-G-A p.Arg1506Cys missense ABCC9 5 83094 6.01728E-5 41547 0 2.87045E-4
12-21958924-A-G c.4512+8T>C splice_region ABCC9 1 82488 1.2123E-5 41244 0 NA
12-21958925-T-C c.4512+7A>G splice_region ABCC9 3 82484 3.63707E-5 41242 0 6.37146E-5
12-21958932-A-T p.Ala1504Ala splice_region+synonymous ABCC9 3 82532 3.63495E-5 41266 0 0.00100705
12-21958952-G-A p.Arg1498Trp missense ABCC9 1 82454 1.2128E-5 41227 0 NA
12-21958958-C-T p.Ala1496Thr missense ABCC9 1 82508 1.212E-5 41254 0 3.98495E-6
12-21958995-C-T c.4450-1G>A splice_acceptor ABCC9 1 81484 1.22723E-5 40742 0 NA
12-21958998-C-CA c.4450-5_4450-4insT splice_region ABCC9 235 68184 0.00344656 34092 0 0.0948856
12-21958998-CA-C c.4450-5delT splice_region ABCC9 1301 65972 0.0197205 32986 15 0.369545
12-21958998-CAA-C c.4450-6_4450-5delTT splice_region ABCC9 15 81116 1.8492E-4 40558 0 0.0152521
12-21960292-A-G p.Ile1479Ile synonymous ABCC9 3 83052 3.61219E-5 41526 0 1.07105E-4
12-21960340-A-G p.Phe1463Phe synonymous ABCC9 6 83162 7.21483E-5 41581 0 5.03525E-4
12-21960364-C-T p.Gln1455Gln synonymous ABCC9 4 83158 4.81012E-5 41579 0 2.38787E-5
12-21960373-T-A p.Gly1452Gly synonymous ABCC9 1 83150 1.20265E-5 41575 0 NA
12-21960376-A-G p.Val1451Val synonymous ABCC9 4 83142 4.81105E-5 41571 0 3.18395E-5
12-21960379-G-A p.Ser1450Ser synonymous ABCC9 1 83138 1.20282E-5 41569 0 NA
12-21960385-A-G p.Asn1448Asn synonymous ABCC9 1 83136 1.20285E-5 41568 0 6.37024E-5
12-21962779-A-T c.4315+7T>A splice_region ABCC9 1 82758 1.20834E-5 41379 0 NA
12-21962813-T-C p.Met1430Val missense ABCC9 1 83040 1.20424E-5 41520 0 NA
12-21962816-T-A p.Asn1429Tyr missense ABCC9 6 83058 7.22387E-5 41529 1 3.99272E-6
12-21962832-T-A p.Glu1423Asp missense ABCC9 1 83082 1.20363E-5 41541 0 NA
12-21962835-T-C p.Leu1422Leu synonymous ABCC9 1 83080 1.20366E-5 41540 0 NA
12-21962846-A-G p.Trp1419Arg missense ABCC9 1 83050 1.20409E-5 41525 0 1.65948E-5
12-21962860-G-A p.Thr1414Ile missense ABCC9 1 83016 1.20459E-5 41508 0 3.99304E-6
12-21962893-T-C c.4212-4A>G splice_region ABCC9 2 82518 2.42371E-5 41259 0 NA
12-21964986-A-G p.Ile1403Thr missense ABCC9 1 82896 1.20633E-5 41448 0 NA
12-21964989-G-C p.Ser1402Cys missense ABCC9 1 82930 1.20584E-5 41465 0 3.18512E-5
12-21964996-T-C p.Ser1400Gly missense ABCC9 2 82978 2.41028E-5 41489 0 NA
12-21965005-T-C p.Ile1397Val missense ABCC9 1 83018 1.20456E-5 41509 0 7.964E-6
12-21965024-T-C p.Ser1390Ser synonymous ABCC9 1 83052 1.20406E-5 41526 0 3.98172E-6
12-21965027-A-C p.Leu1389Leu synonymous ABCC9 2 83054 2.40807E-5 41527 0 8.24837E-6
12-21965038-G-A p.Arg1386Cys missense ABCC9 3 83030 3.61315E-5 41515 0 8.24837E-6
12-21965092-C-T c.4103-1G>A splice_acceptor ABCC9 2 82678 2.41902E-5 41339 0 3.98753E-6
12-21967580-T-A p.Asp1367Val missense+splice_region ABCC9 1 82886 1.20648E-5 41443 0 NA
12-21967587-T-C p.Ile1365Val missense ABCC9 2 82914 2.41214E-5 41457 0 1.90385E-4
12-21967618-C-T p.Ser1354Ser synonymous ABCC9 40 83062 4.81568E-4 41531 1 0.001875
12-21967636-A-T p.Thr1348Thr synonymous ABCC9 1 83050 1.20409E-5 41525 0 NA
12-21968714-T-G p.Ile1336Leu missense ABCC9 2 83052 2.40813E-5 41526 0 NA
12-21968727-G-A p.His1331His synonymous ABCC9 1 83064 1.20389E-5 41532 0 9.57854E-5
12-21968730-C-T p.Lys1330Lys synonymous ABCC9 2 83064 2.40778E-5 41532 0 7.96159E-6
12-21968736-A-G p.Val1328Val synonymous ABCC9 2 83088 2.40709E-5 41544 0 NA
12-21968748-A-G p.Asn1324Asn synonymous ABCC9 1 83106 1.20328E-5 41553 0 3.19183E-5
12-21968764-A-C p.Val1319Gly missense ABCC9 1 83110 1.20322E-5 41555 0 3.18403E-5
12-21968778-T-G p.Ile1314Ile synonymous ABCC9 1 83128 1.20296E-5 41564 0 1.64897E-5
12-21968780-T-C p.Ile1314Val missense ABCC9 1 83122 1.20305E-5 41561 0 NA
12-21968787-C-T p.Glu1311Glu synonymous ABCC9 5 83132 6.01453E-5 41566 0 2.78634E-5
12-21968799-T-A p.Pro1307Pro synonymous ABCC9 2 83152 2.40523E-5 41576 0 NA
12-21968805-A-G p.His1305His synonymous ABCC9 1 83160 1.2025E-5 41580 0 3.98032E-6
12-21968807-G-A p.His1305Tyr missense ABCC9 3 83170 3.60707E-5 41585 0 3.29772E-5
12-21968809-T-G p.Glu1304Ala missense ABCC9 1 83168 1.20239E-5 41584 0 NA
12-21968810-C-G p.Glu1304Gln missense ABCC9 1 83172 1.20233E-5 41586 0 NA
12-21968813-G-A p.Pro1303Ser missense ABCC9 1 83166 1.20241E-5 41583 0 NA
12-21968834-G-A c.3893-7C>T splice_region ABCC9 1 83190 1.20207E-5 41595 0 NA
12-21970121-C-A p.Asp1298Tyr missense+splice_region ABCC9 1 83016 1.20459E-5 41508 0 3.9833E-6
12-21970182-A-T p.Gly1277Gly synonymous ABCC9 6 83082 7.22178E-5 41541 0 6.60327E-5
12-21970195-T-G p.Glu1273Ala missense ABCC9 1 83050 1.20409E-5 41525 0 NA
12-21970249-A-C c.3772-8T>G splice_region ABCC9 3 82592 3.63231E-5 41296 0 NA
12-21971076-A-G c.3771+8T>C splice_region ABCC9 1 83180 1.20221E-5 41590 0 2.78552E-5
12-21971085-G-GT p.Thr1257fs frameshift ABCC9 1 83212 1.20175E-5 41606 0 NA
12-21971087-A-G p.Leu1256Leu synonymous ABCC9 229 83210 0.00275207 41605 0 0.00251762
12-21971096-C-G p.Leu1253Leu synonymous ABCC9 1 83232 1.20146E-5 41616 0 NA
12-21971114-C-G p.Leu1247Phe missense ABCC9 2 83264 2.402E-5 41632 0 NA
12-21971126-C-T p.Ser1243Ser synonymous ABCC9 6 83262 7.20617E-5 41631 0 0.00100705
12-21971147-T-C p.Ile1236Met missense ABCC9 2 83242 2.40263E-5 41621 0 NA
12-21971179-G-A p.Leu1226Leu synonymous ABCC9 2 83158 2.40506E-5 41579 0 8.24906E-6
12-21971192-A-G c.3670-7T>C splice_region ABCC9 1 83066 1.20386E-5 41533 0 NA
12-21981888-G-A c.3669+4C>T splice_region ABCC9 5 83132 6.01453E-5 41566 0 2.38717E-5
12-21981888-G-T c.3669+4C>A splice_region ABCC9 1 83132 1.20291E-5 41566 0 NA
12-21981892-C-T p.Thr1223Thr splice_region+synonymous ABCC9 11 83174 1.32253E-4 41587 0 2.22958E-4
12-21981893-G-A p.Thr1223Met missense+splice_region ABCC9 5 83194 6.01005E-5 41597 0 1.27397E-4
12-21981940-A-G p.Ile1207Ile synonymous ABCC9 4 83340 4.79962E-5 41670 0 6.37389E-5
12-21981946-G-C p.Asn1205Lys missense ABCC9 1 83334 1.19999E-5 41667 0 NA
12-21981955-C-T p.Thr1202Thr synonymous ABCC9 2 83334 2.39998E-5 41667 0 6.25E-4
12-21981967-C-T p.Met1198Ile missense ABCC9 7 83312 8.40215E-5 41656 0 1.07084E-4
12-21981971-C-T p.Arg1197His missense ABCC9 7 83298 8.40356E-5 41649 0 2.38586E-5
12-21981987-T-C p.Thr1192Ala missense ABCC9 3 83176 3.60681E-5 41588 0 3.18776E-5
12-21981989-T-C p.Glu1191Gly missense ABCC9 1 83172 1.20233E-5 41586 0 8.24294E-6
12-21981999-AGAAAACAAAAACAC-A c.3567-19_3567-6delGTGTTTTTGTTTTC splice_region ABCC9 1 83094 1.20346E-5 41547 0 NA
12-21981999-A-G c.3567-5T>C splice_region ABCC9 1 83094 1.20346E-5 41547 0 NA
12-21991012-C-T p.Arg1189Lys missense+splice_region ABCC9 2 82950 2.41109E-5 41475 0 NA
12-21991021-C-T p.Arg1186Gln missense ABCC9 1 83028 1.20441E-5 41514 0 3.18471E-5
12-21991023-A-G p.Ile1185Ile synonymous ABCC9 2 83040 2.40848E-5 41520 0 3.97934E-6
12-21991084-TCG-T p.Asp1164fs frameshift ABCC9 1 83058 1.20398E-5 41529 0 NA
12-21991086-G-A p.Asp1164Asp synonymous ABCC9 2 83050 2.40819E-5 41525 0 3.18329E-5
12-21991091-G-C p.Leu1163Val missense ABCC9 1 83052 1.20406E-5 41526 0 NA
12-21991101-G-A p.Asp1159Asp synonymous ABCC9 3 82998 3.61454E-5 41499 0 3.1841E-5
12-21995259-C-T p.Arg1154Arg synonymous ABCC9 1 83206 1.20184E-5 41603 0 3.9854E-6
12-21995259-C-A p.Arg1154Arg synonymous ABCC9 1 83206 1.20184E-5 41603 0 NA
12-21995286-G-T p.Ala1145Ala synonymous ABCC9 3 83248 3.60369E-5 41624 0 3.18492E-5
12-21995289-A-G p.Val1144Val synonymous ABCC9 2 83264 2.402E-5 41632 0 1.65371E-5
12-21995292-A-G p.Gly1143Gly synonymous ABCC9 2 83262 2.40206E-5 41631 0 3.97934E-6
12-21995312-C-T p.Val1137Ile missense ABCC9 270 83282 0.003242 41641 0 0.00637186
12-21995357-G-C p.Leu1122Val missense ABCC9 1 83314 1.20028E-5 41657 0 NA
12-21995357-G-A p.Leu1122Leu synonymous ABCC9 3 83314 3.60084E-5 41657 0 3.18451E-5
12-21995364-C-T p.Leu1119Leu synonymous ABCC9 10 83324 1.20013E-4 41662 2 2.38884E-4
12-21995379-T-TA p.Thr1115fs frameshift ABCC9 1 83304 1.20042E-5 41652 0 NA
12-21995382-A-C p.Ser1113Ser synonymous ABCC9 16 83300 1.92077E-4 41650 0 3.50252E-4
12-21995390-A-G p.Leu1111Leu synonymous ABCC9 4 83296 4.80215E-5 41648 0 1.4004E-4
12-21995394-T-G p.Pro1109Pro synonymous ABCC9 1 83290 1.20062E-5 41645 0 NA
12-21995400-G-A p.Ile1107Ile synonymous ABCC9 449 83268 0.00539223 41634 7 0.0118813
12-21995409-T-G c.3316-4A>C splice_region ABCC9 11 83218 1.32183E-4 41609 0 1.27405E-4
12-21995409-T-TGTGTTGCCA c.3316-5_3316-4insTGGCAACAC splice_region ABCC9 1 83220 1.20163E-5 41610 0 NA
12-21997409-T-C c.3315+8A>G splice_region ABCC9 1 83026 1.20444E-5 41513 0 NA
12-21997411-A-G c.3315+6T>C splice_region ABCC9 2 83040 2.40848E-5 41520 0 1.65014E-5
12-21997444-A-G p.Phe1096Phe synonymous ABCC9 10 83082 1.20363E-4 41541 0 1.27397E-4
12-21997459-C-G p.Leu1091Leu synonymous ABCC9 4 83054 4.81614E-5 41527 0 3.18471E-5
12-21997462-T-A p.Gly1090Gly synonymous ABCC9 1 83022 1.2045E-5 41511 0 NA
12-21997692-CT-C c.3245+8delA splice_region ABCC9 1 83092 1.20349E-5 41546 0 1.64946E-5
12-21997708-G-T p.Pro1080Thr missense ABCC9 1 83140 1.20279E-5 41570 0 NA
12-21997709-T-C p.Gly1079Gly synonymous ABCC9 2 83138 2.40564E-5 41569 0 4.1214E-5
12-21997716-AT-A p.Ile1077fs frameshift ABCC9 1 83166 1.20241E-5 41583 0 NA
12-21997725-T-C p.Asn1074Ser missense ABCC9 1 83192 1.20204E-5 41596 0 1.64832E-5
12-21997754-A-T p.Ala1064Ala synonymous ABCC9 1 83210 1.20178E-5 41605 0 3.18573E-5
12-21997771-A-G p.Trp1059Arg missense ABCC9 1 83196 1.20198E-5 41598 0 NA
12-21997808-G-T p.Gly1046Gly synonymous ABCC9 1 83114 1.20317E-5 41557 0 3.98273E-6
12-21997815-C-T p.Gly1044Glu missense ABCC9 1 83094 1.20346E-5 41547 0 NA
12-21997839-A-G p.Val1036Ala missense ABCC9 1 83090 1.20351E-5 41545 0 3.98302E-6
12-21998530-A-G c.3096+7T>C splice_region ABCC9 1 82242 1.21592E-5 41121 0 3.18634E-5
12-21998536-C-A c.3096+1G>T splice_donor ABCC9 2 82336 2.42907E-5 41168 0 NA
12-21998560-T-C p.Asn1025Asp missense ABCC9 1 82660 1.20978E-5 41330 0 3.9868E-6
12-21998572-C-T p.Glu1021Lys missense ABCC9 20 82762 2.41657E-4 41381 0 3.58617E-5
12-21998573-C-T p.Ser1020Ser synonymous ABCC9 3 82780 3.62406E-5 41390 0 3.31159E-5
12-21998582-T-C p.Thr1017Thr synonymous ABCC9 4 82852 4.82789E-5 41426 0 NA
12-21998582-T-A p.Thr1017Thr synonymous ABCC9 1 82852 1.20697E-5 41426 0 NA
12-21998603-A-G p.Ala1010Ala synonymous ABCC9 36 82900 4.34258E-4 41450 0 4.45803E-4
12-21998625-A-G p.Leu1003Ser missense ABCC9 1 82936 1.20575E-5 41468 0 NA
12-21998683-G-A p.Arg984Cys missense ABCC9 6 82980 7.23066E-5 41490 0 3.18552E-5
12-21998694-T-C p.Lys980Arg missense ABCC9 1 82978 1.20514E-5 41489 0 NA
12-21998698-A-G p.Trp979Arg missense ABCC9 1 82968 1.20528E-5 41484 0 8.25464E-6
12-21998701-G-T p.Pro978Thr missense ABCC9 3 82940 3.61707E-5 41470 0 2.47656E-5
12-21998733-A-G p.Met967Thr missense ABCC9 3 82768 3.62459E-5 41384 0 NA
12-21998742-T-A p.Asp964Val missense ABCC9 2 82646 2.41996E-5 41323 0 NA
12-21998747-A-G p.Asp962Asp synonymous ABCC9 3 82590 3.6324E-5 41295 0 1.1979E-5
12-21998763-T-C p.Glu957Gly missense ABCC9 1 82260 1.21566E-5 41130 0 NA
12-21998766-T-C p.Glu956Gly missense+splice_region ABCC9 2 82186 2.4335E-5 41093 0 6.25E-4
12-21998771-A-G c.2867-5T>C splice_region ABCC9 14 82002 1.70728E-4 41001 0 6.85081E-5
12-22001076-A-G c.2866+8T>C splice_region ABCC9 1 83212 1.20175E-5 41606 0 NA
12-22001080-C-G c.2866+4G>C splice_region ABCC9 1 83246 1.20126E-5 41623 0 NA
12-22001088-G-A p.Asp954Asp synonymous ABCC9 25 83274 3.00214E-4 41637 0 7.76021E-4
12-22001093-C-T p.Glu953Lys missense ABCC9 3 83274 3.60256E-5 41637 0 3.58126E-5
12-22001094-G-A p.Asp952Asp synonymous ABCC9 2 83270 2.40183E-5 41635 0 6.37024E-5
12-22001124-A-G p.Tyr942Tyr synonymous ABCC9 32 83304 3.84135E-4 41652 0 9.23273E-4
12-22001124-A-C p.Tyr942* stop_gained ABCC9 2 83304 2.40085E-5 41652 0 NA
12-22001125-T-C p.Tyr942Cys missense ABCC9 1 83296 1.20054E-5 41648 0 3.97801E-6
12-22001129-T-C p.Met941Val missense ABCC9 2 83298 2.40102E-5 41649 0 3.97798E-6
12-22001135-G-A p.Arg939Trp missense ABCC9 1 83288 1.20065E-5 41644 0 8.25423E-6
12-22001139-G-C p.Leu937Leu synonymous ABCC9 1 83288 1.20065E-5 41644 0 NA
12-22001166-G-C p.Asp928Glu missense ABCC9 6 83222 7.20963E-5 41611 0 6.36912E-5
12-22001175-C-G p.Met925Ile missense ABCC9 1 83198 1.20195E-5 41599 0 NA
12-22005037-T-C p.Leu921Leu synonymous ABCC9 8 82752 9.66744E-5 41376 0 2.07087E-4
12-22005041-T-C p.Glu920Gly missense ABCC9 1 82776 1.20808E-5 41388 0 NA
12-22005049-T-C p.Gln917Gln synonymous ABCC9 2 82796 2.41558E-5 41398 0 3.98804E-6
12-22005054-G-A p.Arg916Trp missense ABCC9 1 82800 1.20773E-5 41400 0 8.28583E-6
12-22005078-C-T p.Glu908Lys missense ABCC9 2 82806 2.41528E-5 41403 0 1.65774E-5
12-22005078-C-G p.Glu908Gln missense ABCC9 1 82806 1.20764E-5 41403 0 NA
12-22005079-A-T p.Tyr907* stop_gained ABCC9 1 82822 1.20741E-5 41411 0 3.98893E-6
12-22005090-C-T p.Val904Ile missense ABCC9 1 82804 1.20767E-5 41402 0 5.03525E-4
12-22005122-T-C p.Glu893Gly missense ABCC9 1 82826 1.20735E-5 41413 0 NA
12-22005126-T-G p.Arg892Arg synonymous ABCC9 1 82840 1.20715E-5 41420 0 NA
12-22005314-C-T p.Thr877Thr synonymous ABCC9 392 82920 0.00472745 41460 16 0.0122698
12-22005314-C-A p.Thr877Thr synonymous ABCC9 1 82926 1.20589E-5 41463 0 NA
12-22005315-G-A p.Thr877Met missense ABCC9 3 82922 3.61786E-5 41461 0 6.36862E-5
12-22005337-T-A p.Thr870Ser missense ABCC9 1 82934 1.20578E-5 41467 0 NA
12-22005338-C-G p.Val869Val synonymous ABCC9 1 82928 1.20587E-5 41464 0 NA
12-22005346-C-T p.Val867Ile missense ABCC9 1 82928 1.20587E-5 41464 0 3.18471E-5
12-22005353-C-T p.Arg864Arg synonymous ABCC9 1 82958 1.20543E-5 41479 0 6.25E-4
12-22005391-G-A p.Gln852* stop_gained ABCC9 2 82954 2.41097E-5 41477 0 2.47402E-5
12-22005410-G-C p.His845Gln missense ABCC9 1 82988 1.20499E-5 41494 0 NA
12-22005415-T-C p.Ile844Val missense ABCC9 2 82976 2.41034E-5 41488 0 3.18492E-5
12-22005416-G-A p.Asp843Asp synonymous ABCC9 1 82986 1.20502E-5 41493 0 4.00327E-6
12-22005422-G-A p.Ala841Ala synonymous ABCC9 353 82950 0.00425558 41475 0 0.005625
12-22005442-G-A c.2506-3C>T splice_region ABCC9 1 82948 1.20557E-5 41474 0 NA
12-22012516-T-G c.2505+4A>C splice_region ABCC9 1 83152 1.20262E-5 41576 0 3.18593E-5
12-22012525-A-G p.Phe834Leu missense ABCC9 14 83220 1.68229E-4 41610 0 2.47251E-5
12-22012540-T-A p.Asn829Tyr missense ABCC9 1 83260 1.20106E-5 41630 0 NA
12-22012550-C-T p.Ala825Ala synonymous ABCC9 10 83268 1.20094E-4 41634 0 6.3678E-5
12-22012551-G-A p.Ala825Val missense ABCC9 1 83272 1.20088E-5 41636 0 3.97858E-6
12-22012551-G-T p.Ala825Glu missense ABCC9 1 83272 1.20088E-5 41636 0 NA
12-22012555-G-T p.Arg824Arg synonymous ABCC9 7 83272 8.40619E-5 41636 0 6.59228E-5
12-22012555-G-A p.Arg824* stop_gained ABCC9 1 83272 1.20088E-5 41636 0 3.97871E-6
12-22012555-G-C p.Arg824Gly missense ABCC9 1 83272 1.20088E-5 41636 0 NA
12-22013905-C-G p.Arg808Ser missense+splice_region ABCC9 3 82834 3.6217E-5 41417 0 3.18552E-5
12-22013920-A-T p.Thr803Thr synonymous ABCC9 1 82904 1.20621E-5 41452 0 3.18451E-5
12-22013938-T-C p.Leu797Leu synonymous ABCC9 2 82938 2.41144E-5 41469 0 3.98305E-6
12-22013944-G-A p.Asp795Asp synonymous ABCC9 2 82962 2.41074E-5 41481 0 5.03525E-4
12-22013954-G-A p.Pro792Leu missense ABCC9 1 82964 1.20534E-5 41482 0 8.25246E-6
12-22013972-T-C p.Asp786Gly missense ABCC9 1 82960 1.2054E-5 41480 0 3.1837E-5
12-22013980-A-G p.Ala783Ala synonymous ABCC9 1 82948 1.20557E-5 41474 0 3.98384E-6
12-22013993-T-C c.2340-4A>G splice_region ABCC9 2 82904 2.41243E-5 41452 0 1.59454E-5
12-22015880-A-G c.2339+7T>C splice_region ABCC9 1 81968 1.21999E-5 40984 0 NA
12-22015896-T-G p.Asn777Thr missense ABCC9 1 82434 1.21309E-5 41217 0 NA
12-22015911-A-G p.Phe772Ser missense ABCC9 1 82584 1.21089E-5 41292 0 8.33903E-6
12-22015914-G-A p.Thr771Ile missense ABCC9 2 82576 2.42201E-5 41288 0 3.19124E-5
12-22015935-G-A p.Ala764Val missense ABCC9 1 82692 1.20931E-5 41346 0 2.49248E-5
12-22015960-C-G p.Ala756Pro missense ABCC9 2 82488 2.4246E-5 41244 1 NA
12-22015964-A-G p.Tyr754Tyr synonymous ABCC9 45 82440 5.45852E-4 41220 0 0.00125313
12-22015977-T-A p.Tyr750Phe missense ABCC9 1 82272 1.21548E-5 41136 0 8.03897E-6
12-22015989-C-T c.2238-1G>A splice_acceptor ABCC9 124 81950 0.00151312 40975 0 0.00378788
12-22017388-A-G p.Phe741Ser missense ABCC9 1 82488 1.2123E-5 41244 0 5.80114E-5
12-22017395-G-C p.Pro739Ala missense ABCC9 2 82480 2.42483E-5 41240 0 3.18512E-5
12-22017397-T-C p.Glu738Gly missense ABCC9 1 82462 1.21268E-5 41231 0 NA
12-22017398-C-T p.Glu738Lys missense ABCC9 1 82458 1.21274E-5 41229 0 1.65695E-5
12-22017401-A-G p.Ser737Pro missense ABCC9 1 82456 1.21277E-5 41228 0 NA
12-22017410-C-T p.Val734Ile missense+splice_region ABCC9 799 82306 0.00970768 41153 6 0.00735593
12-22017417-A-G c.2199-6T>C splice_region ABCC9 11 82266 1.33713E-4 41133 1 4.96829E-5
12-22025552-T-C c.2198+7A>G splice_region ABCC9 2 83076 2.40743E-5 41538 0 4.11875E-5
12-22025560-T-C p.Asn733Asp missense+splice_region ABCC9 3 83130 3.60881E-5 41565 0 1.64745E-5
12-22025567-G-T p.His730Gln missense ABCC9 3 83156 3.60768E-5 41578 0 2.47121E-5
12-22025593-T-C p.Met722Val missense ABCC9 2 83220 2.40327E-5 41610 0 NA
12-22025599-C-T p.Gly720Ser missense ABCC9 1 83218 1.20166E-5 41609 0 2.47105E-5
12-22025600-G-A p.Leu719Leu synonymous ABCC9 4 83228 4.80607E-5 41614 0 1.59101E-5
12-22025603-G-A p.Ile718Ile synonymous ABCC9 9 83246 1.08113E-4 41623 0 2.8688E-4
12-22025614-G-T p.Leu715Ile missense ABCC9 1 83248 1.20123E-5 41624 0 NA
12-22025631-C-T p.Cys709Tyr missense ABCC9 1 83248 1.20123E-5 41624 0 NA
12-22025652-AT-A p.Met702fs frameshift ABCC9 1 83206 1.20184E-5 41603 0 8.23683E-6
12-22025671-A-G c.2093-7T>C splice_region ABCC9 187 83134 0.00224938 41567 0 0.00261163
12-22028580-ACT-A c.2092+6_2092+7delAG splice_region ABCC9 1 83088 1.20354E-5 41544 0 NA
12-22028594-G-A p.Pro696Ser missense ABCC9 2 83132 2.40581E-5 41566 0 5.81444E-5
12-22028599-C-T p.Arg694Gln missense ABCC9 1 83134 1.20288E-5 41567 0 1.74456E-4
12-22028605-T-C p.Asp692Gly missense ABCC9 1 83168 1.20239E-5 41584 0 NA
12-22028620-G-A p.Thr687Ile missense ABCC9 1 83160 1.2025E-5 41580 0 NA
12-22028630-C-T p.Gly684Ser missense ABCC9 52 83142 6.25436E-4 41571 0 0.001875
12-22028635-C-T p.Gly682Asp missense ABCC9 1 83134 1.20288E-5 41567 0 8.33167E-6
12-22028637-C-T p.Trp681* stop_gained ABCC9 2 83136 2.4057E-5 41568 0 NA
12-22035699-C-A c.2019+1G>T splice_donor ABCC9 1 83022 1.2045E-5 41511 0 NA
12-22035705-T-C p.Ile672Val missense ABCC9 1 83090 1.20351E-5 41545 0 3.18451E-5
12-22035715-C-T p.Glu668Glu synonymous ABCC9 1 83136 1.20285E-5 41568 0 3.18634E-5
12-22035727-G-A p.Pro664Pro synonymous ABCC9 1 83162 1.20247E-5 41581 0 8.24362E-6
12-22035731-C-T p.Arg663His missense ABCC9 4 83162 4.80989E-5 41581 0 2.18817E-4
12-22035732-G-A p.Arg663Cys missense ABCC9 11 83172 1.32256E-4 41586 0 1.2738E-4
12-22035738-G-A p.Arg661Cys missense ABCC9 1 83182 1.20218E-5 41591 0 4.1214E-5
12-22035739-C-T p.Arg660Arg synonymous ABCC9 1 83188 1.2021E-5 41594 0 NA
12-22035740-C-T p.Arg660Gln missense ABCC9 5 83192 6.01019E-5 41596 0 6.37064E-5
12-22035772-T-C p.Arg649Arg synonymous ABCC9 1 83220 1.20163E-5 41610 0 NA
12-22035776-C-T p.Gly648Glu missense ABCC9 1 83226 1.20155E-5 41613 0 1.64867E-5
12-22035777-C-G p.Gly648Arg missense ABCC9 1 83226 1.20155E-5 41613 0 1.64861E-5
12-22035783-G-C p.Gln646Glu missense ABCC9 1 83198 1.20195E-5 41599 0 3.97855E-6
12-22035813-T-A c.1912-6A>T splice_region ABCC9 1 83046 1.20415E-5 41523 0 NA
12-22040762-C-T p.Val637Ile missense+splice_region ABCC9 9 82590 1.08972E-4 41295 0 5.04032E-4
12-22040769-G-GTGC p.Lys633_His634insGln disruptive_inframe_insertion ABCC9 1 82648 1.20995E-5 41324 0 3.98816E-6
12-22040784-C-A p.Glu629Asp missense ABCC9 24 82672 2.90304E-4 41336 0 2.54728E-4
12-22040796-C-T p.Ser625Ser synonymous ABCC9 2 82692 2.41861E-5 41346 0 8.27582E-6
12-22040797-G-A p.Ser625Leu missense ABCC9 2 82694 2.41856E-5 41347 0 3.18573E-5
12-22040810-T-C p.Thr621Ala missense ABCC9 1 82748 1.20849E-5 41374 0 3.98673E-6
12-22040812-C-T p.Arg620Gln missense ABCC9 7 82742 8.46003E-5 41371 0 3.31109E-5
12-22040812-C-A p.Arg620Leu missense ABCC9 3 82744 3.62564E-5 41372 0 NA
12-22040822-C-T p.Asp617Asn missense ABCC9 6 82728 7.25268E-5 41364 0 6.37024E-5
12-22040823-G-A p.Asp616Asp synonymous ABCC9 536 82714 0.00648016 41357 14 0.0138313
12-22040841-CAA-C p.Leu610fs frameshift ABCC9 4 82720 4.83559E-5 41360 0 3.18471E-5
12-22040868-A-G p.Ser601Ser splice_region+synonymous ABCC9 1 82446 1.21292E-5 41223 0 1.66003E-5
12-22040872-C-CA c.1803-5dupT splice_region ABCC9 2 82368 2.42813E-5 41184 0 9.18773E-5
12-22046961-C-T c.1802+5G>A splice_region ABCC9 3 82890 3.61925E-5 41445 0 NA
12-22046998-C-T p.Thr590Thr synonymous ABCC9 7 83006 8.43313E-5 41503 0 5.03525E-4
12-22046999-G-A p.Thr590Met missense ABCC9 2 83010 2.40935E-5 41505 0 3.9826E-6
12-22047037-G-C p.Leu577Leu synonymous ABCC9 2 83088 2.40709E-5 41544 0 1.65063E-5
12-22047043-CA-C p.Leu575fs frameshift ABCC9 3 83094 3.61037E-5 41547 0 NA
12-22047091-C-T p.Ala559Ala synonymous ABCC9 105 83068 0.00126402 41534 0 0.00312181
12-22047091-C-A p.Ala559Ala synonymous ABCC9 1 83068 1.20383E-5 41534 0 NA
12-22047094-A-G p.His558His synonymous ABCC9 1 83080 1.20366E-5 41540 0 NA
12-22047097-G-T p.Thr557Thr synonymous ABCC9 1 83066 1.20386E-5 41533 0 3.98121E-6
12-22048230-A-T p.Ile546Ile synonymous ABCC9 1 82370 1.21403E-5 41185 0 3.1835E-5
12-22048232-T-C p.Ile546Val missense ABCC9 1 82354 1.21427E-5 41177 0 NA
12-22048250-CTG-C c.1619-3_1619-2delCA splice_acceptor ABCC9 3 82288 3.64573E-5 41144 0 3.19417E-5
12-22048256-A-G c.1619-7T>C splice_region ABCC9 5 82208 6.08213E-5 41104 0 3.18329E-5
12-22059054-A-G c.1618+6T>C splice_region ABCC9 2 82726 2.41762E-5 41363 0 2.47819E-5
12-22059069-A-T p.Ser537Thr missense ABCC9 1 82830 1.20729E-5 41415 0 8.25791E-6
12-22059075-A-G p.Tyr535His missense ABCC9 11 82876 1.32728E-4 41438 0 0.00125
12-22059076-T-C p.Leu534Leu synonymous ABCC9 1 82882 1.20653E-5 41441 0 4.95499E-5
12-22059078-G-A p.Leu534Leu synonymous ABCC9 1 82868 1.20674E-5 41434 0 NA
12-22059083-A-G p.Phe532Ser missense ABCC9 1 82896 1.20633E-5 41448 0 NA
12-22059100-T-C p.Leu526Leu synonymous ABCC9 3 82914 3.61821E-5 41457 0 1.6527E-5
12-22059109-C-G p.Met523Ile missense ABCC9 1 82920 1.20598E-5 41460 0 NA
12-22059121-C-T p.Glu519Glu synonymous ABCC9 62 82922 7.47691E-4 41461 0 6.25E-4
12-22059127-A-G p.Ser517Ser synonymous ABCC9 1 82908 1.20616E-5 41454 0 3.18532E-5
12-22059141-T-C p.Ile513Val missense ABCC9 1 82876 1.20662E-5 41438 0 NA
12-22059159-A-G p.Leu507Leu synonymous ABCC9 2 82822 2.41482E-5 41411 0 3.99253E-6
12-22059225-A-G c.1456-3T>C splice_region ABCC9 2 82294 2.43031E-5 41147 0 1.21439E-5
12-22061007-T-G c.1455+4A>C splice_region ABCC9 4 83012 4.81858E-5 41506 0 6.87746E-5
12-22061010-C-T c.1455+1G>A splice_donor ABCC9 1 83010 1.20467E-5 41505 0 3.99294E-6
12-22061041-T-C p.Thr475Thr synonymous ABCC9 1 83050 1.20409E-5 41525 0 8.38799E-6
12-22061050-A-G p.Phe472Phe synonymous ABCC9 4 83036 4.81719E-5 41518 0 3.18593E-5
12-22061053-G-A p.Tyr471Tyr synonymous ABCC9 1 83042 1.20421E-5 41521 0 NA
12-22061065-C-T p.Ala467Ala synonymous ABCC9 1 83030 1.20438E-5 41515 0 1.596E-5
12-22061072-A-G p.Leu465Pro missense ABCC9 1 83046 1.20415E-5 41523 0 NA
12-22061073-G-A p.Leu465Phe missense ABCC9 4 83046 4.81661E-5 41523 0 NA
12-22061076-C-A p.Val464Leu missense ABCC9 2 83036 2.40859E-5 41518 0 NA
12-22061085-C-G p.Ala461Pro missense ABCC9 1 82982 1.20508E-5 41491 0 3.18654E-5
12-22061092-G-A p.Val458Val synonymous ABCC9 3 82942 3.61699E-5 41471 0 9.56084E-5
12-22061134-G-A p.Gly444Gly synonymous ABCC9 4 82788 4.83162E-5 41394 0 9.56084E-5
12-22061137-C-T p.Met443Ile missense ABCC9 1 82784 1.20796E-5 41392 0 3.34158E-5
12-22063088-T-C c.1320+3A>G splice_region ABCC9 1 82034 1.21901E-5 41017 0 NA
12-22063090-C-T c.1320+1G>A splice_donor ABCC9 1 82068 1.2185E-5 41034 0 9.60738E-5
12-22063103-A-T p.Ala436Ala synonymous ABCC9 1 82270 1.21551E-5 41135 0 NA
12-22063115-A-G p.Pro432Pro synonymous ABCC9 81401 81516 0.998589 40758 40646 1.0
12-22063137-A-G p.Met425Thr missense ABCC9 1 82644 1.21001E-5 41322 0 8.25096E-6
12-22063160-G-A p.Val417Val synonymous ABCC9 1 82792 1.20785E-5 41396 0 1.19654E-5
12-22063178-C-A p.Gly411Gly synonymous ABCC9 1 82704 1.20913E-5 41352 0 NA
12-22063184-A-ACAGCTGCTATTAAGCTATTATCATT p.Leu410fs frameshift ABCC9 1 82664 1.20972E-5 41332 0 NA
12-22063186-T-G p.Thr409Pro missense ABCC9 1 82630 1.21021E-5 41315 0 NA
12-22063199-G-A p.Ser404Ser synonymous ABCC9 10 82504 1.21206E-4 41252 0 5.60803E-5
12-22063211-C-T p.Thr400Thr synonymous ABCC9 9 82152 1.09553E-4 41076 0 3.98989E-4
12-22063241-C-A p.Met390Ile missense ABCC9 1 80248 1.24614E-5 40124 0 4.85423E-6
12-22063245-GC-G p.Ala389fs frameshift ABCC9 2 79700 2.50941E-5 39850 0 NA
12-22063246-C-A p.Ala389Ser missense+splice_region ABCC9 1 79534 1.25732E-5 39767 0 NA
12-22063247-C-A c.1165-1G>T splice_acceptor ABCC9 2 79398 2.51896E-5 39699 0 6.41849E-4
12-22063248-T-A c.1165-2A>T splice_acceptor ABCC9 5 78330 6.38325E-5 39165 0 1.92827E-4
12-22063249-AC-A c.1165-4delG splice_region ABCC9 5 79096 6.32143E-5 39548 0 6.27668E-4
12-22063250-C-A c.1165-4G>T splice_region ABCC9 4 78322 5.10712E-5 39161 0 0.00133333
12-22063250-C-CA c.1165-5_1165-4insT splice_region ABCC9 1 78314 1.27691E-5 39157 0 6.58371E-5
12-22063250-CC-AA c.1165-5_1165-4delGGinsTT splice_region ABCC9 2 78344 2.55284E-5 39172 0 NA
12-22063250-C-CAA c.1165-5_1165-4insTT splice_region ABCC9 1 78344 1.27642E-5 39172 0 6.58371E-6
12-22063251-C-CA c.1165-6_1165-5insT splice_region ABCC9 1471 76878 0.0191342 38439 7 0.0440634
12-22063251-C-CAA c.1165-7_1165-6insTT splice_region ABCC9 52 78564 6.61881E-4 39282 0 0.00196479
12-22063251-C-CAAA c.1165-6_1165-5insTTT splice_region ABCC9 8 78626 1.01748E-4 39313 0 8.76117E-5
12-22063251-CAA-C c.1165-7_1165-6delTT splice_region ABCC9 488 78296 0.00623276 39148 0 0.0373239
12-22063251-CAAA-C c.1165-8_1165-6delTTT splice_region ABCC9 15 78590 1.90864E-4 39295 0 0.00119014
12-22063251-CAAAA-C c.1165-9_1165-6delTTTT splice_region ABCC9 1 78616 1.27201E-5 39308 0 NA
12-22063251-C-A c.1165-5G>T splice_region ABCC9 29 78224 3.7073E-4 39112 0 0.0107239
12-22063251-C-CAAAAAAAA c.1165-6_1165-5insTTTTTTTT splice_region ABCC9 1 78624 1.27188E-5 39312 0 NA
12-22063251-C-CAAAAAAAAAA c.1165-6_1165-5insTTTTTTTTTT splice_region ABCC9 1 78626 1.27184E-5 39313 0 NA
12-22063252-AA-A c.1165-7delT splice_region ABCC9 15921 66128 0.24076 33064 539 NA
12-22063773-C-T p.Arg384His missense ABCC9 2 82848 2.41406E-5 41424 0 2.47402E-5
12-22063777-G-A p.Leu383Phe missense ABCC9 1 82842 1.20712E-5 41421 0 1.19579E-5
12-22063780-T-C p.Asn382Asp missense ABCC9 1 82844 1.20709E-5 41422 0 NA
12-22063786-CA-AT p.ThrGly379ThrCys missense ABCC9 1 82860 1.20685E-5 41430 0 NA
12-22063790-CTC-TTT p.Glu378Lys missense ABCC9 1 82866 1.20677E-5 41433 0 NA
12-22063794-A-G p.Ile377Thr missense ABCC9 3 82872 3.62004E-5 41436 0 8.24851E-6
12-22063795-T-C p.Ile377Val missense ABCC9 1 82864 1.2068E-5 41432 0 6.5987E-5
12-22063855-G-A p.Leu357Phe missense ABCC9 1 82952 1.20552E-5 41476 0 NA
12-22063861-C-A p.Ala355Ser missense ABCC9 10 82970 1.20525E-4 41485 0 3.30508E-5
12-22063867-C-G p.Val353Leu missense ABCC9 1 82972 1.20523E-5 41486 0 3.98654E-6
12-22063868-G-A p.Tyr352Tyr synonymous ABCC9 97 82964 0.00116918 41482 0 0.00248836
12-22063873-C-A p.Ala351Ser missense ABCC9 1 82974 1.2052E-5 41487 0 1.99362E-5
12-22063873-C-T p.Ala351Thr missense ABCC9 1 82974 1.2052E-5 41487 0 3.98724E-6
12-22063874-G-A p.Asn350Asn synonymous ABCC9 2 82964 2.41068E-5 41482 0 5.9801E-5
12-22063880-A-T p.Leu348Leu synonymous ABCC9 1 82986 1.20502E-5 41493 0 NA
12-22063889-C-CATTTTCAT p.Glu346fs frameshift ABCC9 1 82994 1.20491E-5 41497 0 NA
12-22063898-G-C p.Leu342Leu synonymous ABCC9 2 83010 2.40935E-5 41505 0 NA
12-22063911-A-G p.Ile338Thr missense+splice_region ABCC9 1 82958 1.20543E-5 41479 0 8.29325E-6
12-22063916-G-GT c.1012-5_1012-4insA splice_region ABCC9 1 82940 1.20569E-5 41470 0 NA
12-22063916-G-A c.1012-4C>T splice_region ABCC9 1 82940 1.20569E-5 41470 0 NA
12-22065824-C-T p.Gly331Gly synonymous ABCC9 1 82334 1.21457E-5 41167 0 NA
12-22065843-A-G p.Val325Ala missense ABCC9 3 82484 3.63707E-5 41242 0 3.98419E-6
12-22065846-C-T p.Arg324His missense ABCC9 1 82496 1.21218E-5 41248 0 3.19081E-5
12-22065847-G-A p.Arg324Cys missense ABCC9 2 82492 2.42448E-5 41246 0 3.19244E-5
12-22065848-C-T p.Gln323Gln synonymous ABCC9 1 82522 1.2118E-5 41261 0 8.25505E-6
12-22065858-C-T p.Gly320Glu missense ABCC9 2 82662 2.41949E-5 41331 0 NA
12-22065858-C-A p.Gly320Val missense ABCC9 2 82662 2.41949E-5 41331 0 3.98479E-6
12-22065860-A-G p.Ser319Ser synonymous ABCC9 14 82672 1.69344E-4 41336 0 4.38306E-5
12-22065864-A-G p.Ile318Thr missense ABCC9 1 82706 1.2091E-5 41353 0 NA
12-22065889-G-A p.Leu310Leu synonymous ABCC9 2 82772 2.41628E-5 41386 0 4.3832E-5
12-22065890-T-C p.Leu309Leu synonymous ABCC9 1 82774 1.20811E-5 41387 0 8.25164E-6
12-22065892-A-G p.Leu309Leu synonymous ABCC9 1 82784 1.20796E-5 41392 0 3.98451E-6
12-22065893-A-G p.Asp308Asp synonymous ABCC9 47 82784 5.67743E-4 41392 0 0.00153042
12-22065896-A-G p.Ala307Ala synonymous ABCC9 1 82796 1.20779E-5 41398 0 NA
12-22065917-A-G p.Ser300Ser synonymous ABCC9 4 82764 4.83302E-5 41382 0 6.3804E-5
12-22065936-C-T p.Gly294Glu missense ABCC9 1 82672 1.2096E-5 41336 0 NA
12-22065946-T-G p.Arg291Arg synonymous ABCC9 1 82660 1.20978E-5 41330 0 NA
12-22065965-A-T p.Ser284Ser synonymous ABCC9 3 82462 3.63804E-5 41231 0 9.58711E-5
12-22065971-A-C p.Thr282Thr synonymous ABCC9 4 82330 4.8585E-5 41165 0 9.59447E-5
12-22065974-C-A p.Arg281Arg synonymous ABCC9 1 82302 1.21504E-5 41151 0 4.95663E-5
12-22065980-T-C p.Pro279Pro synonymous ABCC9 5 82206 6.08228E-5 41103 0 3.20718E-5
12-22065997-T-C p.Lys274Glu missense ABCC9 1 81836 1.22196E-5 40918 0 8.30689E-6
12-22066002-T-TA c.817-3_817-2insT splice_region ABCC9 1 81460 1.2276E-5 40730 0 4.41638E-6
12-22066003-GAAGAAAAAAAA-G c.817-14_817-4delTTTTTTTTCTT splice_region ABCC9 18 81382 2.21179E-4 40691 0 2.99052E-4
12-22066003-G-A c.817-3C>T splice_region ABCC9 1 81314 1.2298E-5 40657 0 4.12486E-4
12-22066005-A-AG c.817-6_817-5insC splice_region ABCC9 1 81326 1.22962E-5 40663 0 NA
12-22066006-GA-G c.817-7delT splice_region ABCC9 832 80824 0.010294 40412 4 0.0165108
12-22066006-G-GA c.817-7_817-6insT splice_region ABCC9 20 79322 2.52137E-4 39661 0 0.0147727
12-22066006-G-A c.817-6C>T splice_region ABCC9 46 76572 6.00742E-4 38286 0 0.0129911
12-22068598-T-A c.816+4A>T splice_region ABCC9 12 82722 1.45064E-4 41361 0 NA
12-22068620-A-G p.Asp266Asp synonymous ABCC9 43 82822 5.19186E-4 41411 0 8.90678E-4
12-22068623-T-C p.Lys265Lys synonymous ABCC9 1 82844 1.20709E-5 41422 0 NA
12-22068629-G-A p.Cys263Cys synonymous ABCC9 544 82762 0.00657306 41381 10 0.0103513
12-22068634-CAT-C p.Tyr261fs frameshift ABCC9 1 82814 1.20753E-5 41407 0 NA
12-22068650-T-C p.Arg256Arg synonymous ABCC9 2 82742 2.41715E-5 41371 0 NA
12-22068654-A-G p.Met255Thr missense ABCC9 1 82736 1.20866E-5 41368 0 6.52103E-5
12-22068709-A-G p.Ser237Pro missense ABCC9 1 82804 1.20767E-5 41402 0 NA
12-22068721-T-G p.Thr233Pro missense ABCC9 1 82836 1.2072E-5 41418 0 NA
12-22068732-C-A p.Trp229Leu missense ABCC9 4 82852 4.82789E-5 41426 0 NA
12-22068742-CT-C p.Ala226fs frameshift ABCC9 1 82860 1.20685E-5 41430 0 3.98311E-6
12-22068764-T-C p.Pro218Pro synonymous ABCC9 1 82856 1.20691E-5 41428 0 NA
12-22068765-G-T p.Pro218Gln missense ABCC9 1 82856 1.20691E-5 41428 0 3.98356E-6
12-22068812-T-C p.Val202Val synonymous ABCC9 1 82700 1.20919E-5 41350 0 NA
12-22068847-GTG-CTT c.574-5_574-3delCACinsAAG splice_region ABCC9 1 82230 1.2161E-5 41115 0 NA
12-22068849-G-T c.574-5C>A splice_region ABCC9 42996 74392 0.577965 37196 12051 0.713568
12-22069878-C-T p.Arg189Gln missense ABCC9 1 83084 1.2036E-5 41542 0 4.01162E-6
12-22069879-G-A p.Arg189* stop_gained ABCC9 2 83098 2.4068E-5 41549 0 1.32336E-4
12-22069894-C-T p.Glu184Lys missense ABCC9 1 83130 1.20294E-5 41565 0 NA
12-22069932-C-T p.Gly171Asp missense ABCC9 1 83086 1.20357E-5 41543 0 NA
12-22069932-CCTG-TATT p.ThrGly170LysTyr missense ABCC9 1 83090 1.20351E-5 41545 0 NA
12-22069941-C-T p.Cys168Tyr missense ABCC9 1 83084 1.2036E-5 41542 0 NA
12-22069998-G-GT p.Thr149fs frameshift ABCC9 1 82974 1.2052E-5 41487 0 NA
12-22070007-A-T p.Ile146Asn missense ABCC9 3 82958 3.61629E-5 41479 0 2.47243E-5
12-22070033-C-A p.Leu137Leu synonymous ABCC9 2 82842 2.41423E-5 41421 0 6.37552E-5
12-22070042-A-G c.407-5T>C splice_region ABCC9 1 82774 1.20811E-5 41387 0 NA
12-22076761-A-G p.Tyr146His missense ABCC9 3 52328 5.73307E-5 26164 0 0.001875
12-22076779-G-T p.His140Asn missense ABCC9 2 52276 3.82585E-5 26138 0 NA
12-22076781-T-C p.His139Arg missense ABCC9 1 52276 1.91292E-5 26138 0 7.39711E-6
12-22076785-T-A p.Ser138Cys missense ABCC9 1 52248 1.91395E-5 26124 0 1.27543E-4
12-22078391-A-G p.Met170Thr missense ABCC9 717 51826 0.0138348 25913 28 0.0228025
12-22078409-T-C p.His164Arg missense ABCC9 3 51978 5.77167E-5 25989 0 3.72506E-5
12-22078426-A-G p.Asp158Asp synonymous ABCC9 1 52026 1.92212E-5 26013 0 3.18471E-5
12-22078429-AG-TT p.Thr157Lys missense ABCC9 1 52042 1.92152E-5 26021 0 NA
12-22078431-T-G p.Thr157Pro missense ABCC9 1 52036 1.92175E-5 26018 0 7.44192E-6
12-22078450-G-A p.Phe150Phe synonymous ABCC9 1 52036 1.92175E-5 26018 0 7.44302E-6
12-22078461-T-C p.Lys147Glu missense ABCC9 1 51982 1.92374E-5 25991 0 7.44081E-6
12-22078468-C-T p.Leu144Leu synonymous ABCC9 1 51936 1.92545E-5 25968 0 7.44602E-6
12-22078487-C-T p.Gly138Asp missense ABCC9 2 51792 3.8616E-5 25896 0 NA
12-22078488-C-G p.Gly138Arg missense ABCC9 1 51780 1.93125E-5 25890 0 6.25E-4
12-22078488-C-A p.Gly138Cys missense ABCC9 1 51780 1.93125E-5 25890 0 8.20626E-5
12-22078490-G-A p.Pro137Leu missense ABCC9 1 51760 1.93199E-5 25880 0 NA
12-22078872-T-C c.406+4A>G splice_region ABCC9 1 83228 1.20152E-5 41614 0 NA
12-22078876-C-A p.Ala136Ser missense+splice_region ABCC9 1 83240 1.20135E-5 41620 0 3.18654E-5
12-22078904-T-C p.Glu126Glu synonymous ABCC9 1 83284 1.20071E-5 41642 0 NA
12-22078907-G-A p.Ile125Ile synonymous ABCC9 1 83290 1.20062E-5 41645 0 7.95551E-6
12-22078910-A-G p.Asn124Asn synonymous ABCC9 50 83304 6.00211E-4 41652 0 9.87387E-4
12-22078911-T-C p.Asn124Ser missense ABCC9 1 83304 1.20042E-5 41652 0 1.19322E-5
12-22078928-C-T p.Ser118Ser synonymous ABCC9 3 83324 3.6004E-5 41662 0 9.55536E-5
12-22078931-T-A p.Thr117Thr synonymous ABCC9 1 83336 1.19996E-5 41668 0 NA
12-22078937-A-G p.Thr115Thr synonymous ABCC9 1 83350 1.19976E-5 41675 0 NA
12-22078946-G-A p.Phe112Phe synonymous ABCC9 1 83350 1.19976E-5 41675 0 4.11855E-5
12-22078957-C-T p.Val109Met missense ABCC9 1 83364 1.19956E-5 41682 0 6.37024E-5
12-22078958-G-A p.Ala108Ala synonymous ABCC9 3 83362 3.59876E-5 41681 0 8.23723E-6
12-22078977-A-G p.Leu102Pro missense ABCC9 9 83362 1.07963E-4 41681 0 2.54793E-4
12-22078987-A-T p.Ser99Thr missense ABCC9 1 83358 1.19964E-5 41679 0 3.9769E-6
12-22078988-T-A p.Glu98Asp missense ABCC9 1 83354 1.1997E-5 41677 0 3.9769E-6
12-22078993-G-A p.Arg97Trp missense ABCC9 1 83356 1.19967E-5 41678 0 1.64745E-5
12-22078995-C-T p.Arg96Gln missense+splice_region ABCC9 8 83352 9.59785E-5 41676 0 6.36983E-5
12-22078996-G-T p.Arg96Arg splice_region+synonymous ABCC9 1 83350 1.19976E-5 41675 0 6.25E-4
12-22086708-T-A c.284+8A>T splice_region ABCC9 2 83086 2.40714E-5 41543 0 NA
12-22086715-C-T c.284+1G>A splice_donor ABCC9 1 83112 1.2032E-5 41556 0 2.475E-5
12-22086716-G-A p.Ser95Leu missense+splice_region ABCC9 1 83110 1.20322E-5 41555 0 8.24906E-6
12-22086752-T-C p.His83Arg missense ABCC9 3 83224 3.60473E-5 41612 0 NA
12-22086767-G-A p.Ala78Val missense ABCC9 1 83250 1.2012E-5 41625 0 3.9782E-6
12-22086768-C-T p.Ala78Thr missense ABCC9 1 83254 1.20114E-5 41627 0 3.9782E-6
12-22086769-G-A p.Phe77Phe synonymous ABCC9 1 83268 1.20094E-5 41634 0 5.03525E-4
12-22086785-C-T p.Arg72Lys missense ABCC9 1 83284 1.20071E-5 41642 0 4.12052E-5
12-22086799-C-T p.Pro67Pro synonymous ABCC9 3 83292 3.60179E-5 41646 0 3.18674E-5
12-22086800-G-A p.Pro67Leu missense ABCC9 5 83294 6.00283E-5 41647 0 6.25E-4
12-22086841-GC-G p.Ser53fs frameshift ABCC9 1 83244 1.20129E-5 41622 0 NA
12-22089459-T-G c.142+8A>C splice_region ABCC9 2 82644 2.42002E-5 41322 0 NA
12-22089465-A-G c.142+2T>C splice_donor ABCC9 1 82782 1.20799E-5 41391 0 9.02495E-6
12-22089487-G-T p.Thr41Asn missense ABCC9 1 83020 1.20453E-5 41510 0 NA
12-22089498-C-T p.Leu37Leu synonymous ABCC9 2 83068 2.40767E-5 41534 0 3.19183E-5
12-22089513-G-A p.Val32Val synonymous ABCC9 1 83096 1.20343E-5 41548 0 1.07564E-4
12-22089516-C-A p.Leu31Leu synonymous ABCC9 4 83094 4.81383E-5 41547 0 NA
12-22089519-G-A p.Asn30Asn synonymous ABCC9 1 83104 1.20331E-5 41552 0 3.9833E-6
12-22089534-A-G p.Phe25Phe synonymous ABCC9 8 83112 9.62557E-5 41556 0 1.47383E-4
12-22089542-A-T p.Ser23Thr missense ABCC9 1 83116 1.20314E-5 41558 0 NA
12-22089551-G-A p.Leu20Leu synonymous ABCC9 4 83098 4.81359E-5 41549 0 8.28391E-5
12-22089561-G-A p.Asn16Asn synonymous ABCC9 2 83072 2.40755E-5 41536 0 7.56942E-5
12-22089574-G-A p.Ser12Leu missense ABCC9 1 83048 1.20412E-5 41524 0 1.27421E-4
12-22089587-T-TA p.Asn8fs frameshift ABCC9 3 82974 3.61559E-5 41487 0 NA
12-22089603-G-A p.Ser2Ser synonymous ABCC9 1 82790 1.20788E-5 41395 0 3.31702E-5
12-22089604-C-T p.Ser2Asn missense ABCC9 1 82790 1.20788E-5 41395 0 3.99071E-6
12-22089605-T-C p.Ser2Gly missense ABCC9 1 82772 1.20814E-5 41386 0 3.99026E-6