NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)
|
rs139964066
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000352.6(ABCC8):c.1176+2T>C
|
rs750586210
|
0.00001
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)
|
rs1484689392
|
0.00001
|
NM_000352.6(ABCC8):c.2695-1G>C
|
rs1057517420
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.3988+2T>C
|
rs745349258
|
0.00001
|
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe)
|
rs72559718
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.428G>A (p.Trp143Ter)
|
rs1395990892
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)
|
rs72559717
|
0.00001
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)
|
rs1957198348
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)
|
rs1328072266
|
0.00001
|
NM_000352.6(ABCC8):c.985A>T (p.Lys329Ter)
|
rs1957147183
|
0.00001
|
NC_000011.10:g.(?_17416920)_(17432254_?)del
|
|
|
NC_000011.10:g.17395719del
|
rs2133401493
|
|
NC_000011.9:g.(?_17414433)_(17438525_?)del
|
|
|
NC_000011.9:g.(?_17448586)_(17453801_?)del
|
|
|
NC_000011.9:g.(?_17464257)_(17464869_?)del
|
|
|
NC_000011.9:g.(?_17464257)_(17474840_?)del
|
|
|
NC_000011.9:g.(?_17482025)_(17498513_?)del
|
|
|
NM_000352.3:c.85_1011+8del
|
|
|
NM_000352.6(ABCC8):c.-9_1dup (p.Met1fs)
|
|
|
NM_000352.6(ABCC8):c.1003C>T (p.Gln335Ter)
|
rs2133674070
|
|
NM_000352.6(ABCC8):c.1011+1G>T
|
rs2133673996
|
|
NM_000352.6(ABCC8):c.1068C>G (p.Tyr356Ter)
|
|
|
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)
|
rs2133616750
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.1369G>T (p.Gly457Ter)
|
rs771959876
|
|
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
|
rs1591834223
|
|
NM_000352.6(ABCC8):c.1437del (p.Lys480fs)
|
|
|
NM_000352.6(ABCC8):c.1452_1461del (p.Gln485fs)
|
|
|
NM_000352.6(ABCC8):c.1453C>T (p.Gln485Ter)
|
rs1956391008
|
|
NM_000352.6(ABCC8):c.1473T>G (p.Tyr491Ter)
|
|
|
NM_000352.6(ABCC8):c.148+1del
|
rs2133737085
|
|
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter)
|
rs1591928988
|
|
NM_000352.6(ABCC8):c.1536C>A (p.Tyr512Ter)
|
rs765090096
|
|
NM_000352.6(ABCC8):c.1553del (p.Phe518fs)
|
rs2133595741
|
|
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)
|
rs1591832463
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.1676_1677delinsAA (p.Phe559Ter)
|
|
|
NM_000352.6(ABCC8):c.1769del (p.Leu590fs)
|
|
|
NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu)
|
rs72559726
|
|
NM_000352.6(ABCC8):c.1810dup (p.Leu604fs)
|
rs2133548955
|
|
NM_000352.6(ABCC8):c.1817+2T>C
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
|
|
|
NM_000352.6(ABCC8):c.1933del (p.Val645fs)
|
|
|
NM_000352.6(ABCC8):c.1955_1958del (p.Ala652fs)
|
|
|
NM_000352.6(ABCC8):c.1960G>T (p.Glu654Ter)
|
|
|
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)
|
|
|
NM_000352.6(ABCC8):c.1_5del (p.Met1fs)
|
|
|
NM_000352.6(ABCC8):c.2004del (p.Ser669fs)
|
|
|
NM_000352.6(ABCC8):c.2031C>A (p.Cys677Ter)
|
|
|
NM_000352.6(ABCC8):c.2057T>C (p.Phe686Ser)
|
rs1159625966
|
|
NM_000352.6(ABCC8):c.2064G>A (p.Trp688Ter)
|
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter)
|
rs751848086
|
|
NM_000352.6(ABCC8):c.2114del (p.Arg705fs)
|
|
|
NM_000352.6(ABCC8):c.2117-1G>A
|
rs797045207
|
|
NM_000352.6(ABCC8):c.2117-2A>T
|
rs1476853180
|
|
NM_000352.6(ABCC8):c.2117-3_2117-2inv
|
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)
|
rs753296261
|
|
NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs)
|
rs2133487890
|
|
NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter)
|
rs751826777
|
|
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs)
|
rs1955018104
|
|
NM_000352.6(ABCC8):c.227del (p.Ile76fs)
|
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2585_2588del (p.His862fs)
|
|
|
NM_000352.6(ABCC8):c.2671C>T (p.Gln891Ter)
|
rs2133460957
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2695-2A>T
|
rs863225278
|
|
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter)
|
rs1954644972
|
|
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
|
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.2941G>T (p.Glu981Ter)
|
|
|
NM_000352.6(ABCC8):c.2953del (p.Leu985fs)
|
|
|
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter)
|
rs1954577994
|
|
NM_000352.6(ABCC8):c.298G>T (p.Glu100Ter)
|
|
|
NM_000352.6(ABCC8):c.2T>C (p.Met1Thr)
|
|
|
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)
|
rs192863214
|
|
NM_000352.6(ABCC8):c.3038C>A (p.Ser1013Ter)
|
|
|
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs)
|
rs1954568421
|
|
NM_000352.6(ABCC8):c.3095G>A (p.Trp1032Ter)
|
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)
|
rs1057516585
|
|
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.3283A>T (p.Arg1095Ter)
|
|
|
NM_000352.6(ABCC8):c.333del (p.Met112fs)
|
rs2133711362
|
|
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs)
|
rs1954474111
|
|
NM_000352.6(ABCC8):c.3439del (p.Leu1147fs)
|
rs2133439017
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.3568C>T (p.Gln1190Ter)
|
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter)
|
rs1283621955
|
|
NM_000352.6(ABCC8):c.3674del (p.Lys1225fs)
|
|
|
NM_000352.6(ABCC8):c.3682del (p.Glu1228fs)
|
|
|
NM_000352.6(ABCC8):c.3737G>A (p.Trp1246Ter)
|
|
|
NM_000352.6(ABCC8):c.3738G>A (p.Trp1246Ter)
|
|
|
NM_000352.6(ABCC8):c.375_376del (p.His125fs)
|
|
|
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)
|
rs1185034563
|
|
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs)
|
rs2133411551
|
|
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
|
|
|
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)
|
rs80356637
|
|
NM_000352.6(ABCC8):c.3952del (p.Leu1317_Leu1318insTer)
|
rs2133408572
|
|
NM_000352.6(ABCC8):c.3966_3972del (p.Glu1323fs)
|
rs2133408466
|
|
NM_000352.6(ABCC8):c.4001_4019dup (p.Gln1341fs)
|
rs2133407387
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4059C>A (p.Tyr1353Ter)
|
rs374602183
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)
|
rs137852673
|
|
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)
|
rs193922401
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.4148G>A (p.Gly1383Glu)
|
|
|
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs)
|
rs1554905145
|
|
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
|
rs387906408
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val)
|
rs587783171
|
|
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
|
|
|
NM_000352.6(ABCC8):c.4178G>T (p.Arg1393Leu)
|
|
|
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)
|
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4273del (p.Leu1425fs)
|
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4284del (p.Val1429fs)
|
|
|
NM_000352.6(ABCC8):c.429G>A (p.Trp143Ter)
|
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4370C>T (p.Ala1457Val)
|
rs2133398429
|
|
NM_000352.6(ABCC8):c.4372C>G (p.Gln1458Glu)
|
rs2133398414
|
|
NM_000352.6(ABCC8):c.4400del (p.Pro1467fs)
|
|
|
NM_000352.6(ABCC8):c.4411G>C (p.Asp1471His)
|
rs72559716
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)
|
rs863225279
|
|
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)
|
rs1953791177
|
|
NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu)
|
rs751591418
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.4532T>A (p.Ile1511Asn)
|
rs2133394768
|
|
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
|
|
|
NM_000352.6(ABCC8):c.4545+1del
|
rs2133394678
|
|
NM_000352.6(ABCC8):c.4588del (p.Arg1530fs)
|
rs2133393098
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.4608+1G>A
|
rs2133392952
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
NM_000352.6(ABCC8):c.4661G>A (p.Gly1554Asp)
|
|
|
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)
|
|
|
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)
|
rs758754046
|
|
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)
|
rs1591896370
|
|
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)
|
rs919281813
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
NM_000352.6(ABCC8):c.544del (p.Leu182fs)
|
rs2133686985
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.56del (p.Gln19fs)
|
rs2133738006
|
|
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys)
|
rs193929366
|
|
NM_000352.6(ABCC8):c.643del (p.Val215fs)
|
rs1957201685
|
|
NM_000352.6(ABCC8):c.655C>T (p.Gln219Ter)
|
rs2133680142
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter)
|
rs2133679771
|
|
NM_000352.6(ABCC8):c.725del (p.Lys242fs)
|
rs1957196622
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
NM_000352.6(ABCC8):c.76del (p.Cys26fs)
|
rs2133737797
|
|
NM_000352.6(ABCC8):c.790C>T (p.Gln264Ter)
|
rs2133679133
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.817del (p.Gln273fs)
|
rs2133678848
|
|
NM_000352.6(ABCC8):c.81dup (p.Val28fs)
|
rs2133737748
|
|
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
|
|
|
NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter)
|
rs2133675152
|
|
NM_000352.6(ABCC8):c.8del (p.Leu3fs)
|
rs940471335
|
|
NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)
|
|
|