NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>T
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.3651-1G>C
|
rs768820409
|
0.00001
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)
|
rs748233295
|
0.00001
|
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)
|
rs776100468
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>T (p.Arg1493Leu)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NC_000011.9:g.(?_17433888)_(17434943_?)del
|
|
|
NM_000352.6(ABCC8):c.1011+1G>A
|
|
|
NM_000352.6(ABCC8):c.1177-1G>C
|
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val)
|
rs1554949196
|
|
NM_000352.6(ABCC8):c.148+2T>C
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.148+2T>G
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.1502A>C (p.Glu501Ala)
|
|
|
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
|
|
|
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)
|
rs144481621
|
|
NM_000352.6(ABCC8):c.1598T>C (p.Leu533Pro)
|
rs1419269417
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1818-1G>A
|
|
|
NM_000352.6(ABCC8):c.1818-2A>C
|
|
|
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
|
|
|
NM_000352.6(ABCC8):c.1924-1G>C
|
|
|
NM_000352.6(ABCC8):c.1924-2A>G
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
NM_000352.6(ABCC8):c.19G>T (p.Gly7Cys)
|
|
|
NM_000352.6(ABCC8):c.2056T>A (p.Phe686Ile)
|
|
|
NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp)
|
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser)
|
rs1591794677
|
|
NM_000352.6(ABCC8):c.2147G>A (p.Gly716Asp)
|
rs72559723
|
|
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)
|
rs1554924079
|
|
NM_000352.6(ABCC8):c.2204G>A (p.Gly735Glu)
|
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2256-1G>T
|
|
|
NM_000352.6(ABCC8):c.2291+1G>A
|
rs1160946320
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2694+1G>A
|
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.290+1G>A
|
rs2133728249
|
|
NM_000352.6(ABCC8):c.2921-1G>A
|
rs772682942
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.332G>A (p.Gly111Glu)
|
rs2133711374
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.3399+2T>C
|
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.3545G>T (p.Arg1182Leu)
|
|
|
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)
|
rs137852675
|
|
NM_000352.6(ABCC8):c.3557+1G>A
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3650+1G>T
|
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3737G>T (p.Trp1246Leu)
|
rs2133413622
|
|
NM_000352.6(ABCC8):c.3753+2C>T
|
rs760196276
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3784G>C (p.Ala1262Pro)
|
|
|
NM_000352.6(ABCC8):c.3867+1G>A
|
|
|
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs)
|
rs1953988179
|
|
NM_000352.6(ABCC8):c.3961G>T (p.Glu1321Ter)
|
rs1953981445
|
|
NM_000352.6(ABCC8):c.3967G>A (p.Glu1323Lys)
|
|
|
NM_000352.6(ABCC8):c.398C>G (p.Pro133Arg)
|
|
|
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.4147G>C (p.Gly1383Arg)
|
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
NM_000352.6(ABCC8):c.4177C>G (p.Arg1393Gly)
|
|
|
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
|
|
|
NM_000352.6(ABCC8):c.4199-2A>G
|
rs1953885548
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4258C>A (p.Arg1420Ser)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4298G>A (p.Gly1433Asp)
|
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.4376T>C (p.Leu1459Pro)
|
|
|
NM_000352.6(ABCC8):c.4411+2T>C
|
rs1953843456
|
|
NM_000352.6(ABCC8):c.4429G>C (p.Gly1477Arg)
|
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
NM_000352.6(ABCC8):c.4478G>C (p.Arg1493Pro)
|
rs746480424
|
|
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn)
|
rs2133394860
|
|
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)
|
rs769989185
|
|
NM_000352.6(ABCC8):c.4545+1G>C
|
|
|
NM_000352.6(ABCC8):c.4546-1G>A
|
|
|
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly)
|
rs2133393241
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)
|
rs758754046
|
|
NM_000352.6(ABCC8):c.503G>C (p.Arg168Pro)
|
rs1002070797
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.579+1G>A
|
|
|
NM_000352.6(ABCC8):c.579+2T>C
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.61G>T (p.Val21Phe)
|
|
|
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys)
|
rs2133680513
|
|
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn)
|
rs2133680501
|
|
NM_000352.6(ABCC8):c.67A>C (p.Asn23His)
|
|
|
NM_000352.6(ABCC8):c.685A>G (p.Thr229Ala)
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.80T>C (p.Phe27Ser)
|
|
|
NM_000352.6(ABCC8):c.822+2T>C
|
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
|
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)
|
rs1409900082
|
|
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
|
|
|
NM_000352.6(ABCC8):c.95A>G (p.Asn32Ser)
|
|
|