NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
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.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
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.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
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.4178G>A (p.Arg1393His)
|
rs769279368
|
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.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
NM_000352.6(ABCC8):c.1176+2T>C
|
rs750586210
|
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.1508T>C (p.Leu503Pro)
|
rs1554933168
|
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.1671+1G>C
|
rs1057516509
|
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.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
|
rs767123465
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
NM_000352.6(ABCC8):c.3651-1G>C
|
rs768820409
|
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.4306C>T (p.Arg1436Ter)
|
rs193922402
|
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.4608G>A (p.Ala1536=)
|
rs1439464815
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)
|
rs1956875186
|
|
NM_000352.6(ABCC8):c.1289G>A (p.Trp430Ter)
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.148+2T>C
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.149-2A>T
|
|
|
NM_000352.6(ABCC8):c.160C>T (p.Gln54Ter)
|
|
|
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)
|
rs1591832463
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.1630+5G>T
|
rs1956364777
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1813del (p.Leu604_Val605insTer)
|
|
|
NM_000352.6(ABCC8):c.1817+1G>A
|
|
|
NM_000352.6(ABCC8):c.1817+1G>C
|
|
|
NM_000352.6(ABCC8):c.1822C>T (p.Gln608Ter)
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1893del (p.Gln632fs)
|
rs2133539303
|
|
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
|
|
|
NM_000352.6(ABCC8):c.1933del (p.Val645fs)
|
|
|
NM_000352.6(ABCC8):c.2040+1G>A
|
|
|
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)
|
rs764349043
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2117-1G>A
|
rs797045207
|
|
NM_000352.6(ABCC8):c.2140C>T (p.Gln714Ter)
|
|
|
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)
|
rs80356634
|
|
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)
|
rs760520781
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
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.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter)
|
rs751826777
|
|
NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)
|
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2556_2556+15delinsCCTGGGGTCCTTGT
|
|
|
NM_000352.6(ABCC8):c.2557-2A>G
|
|
|
NM_000352.6(ABCC8):c.2654T>A (p.Leu885Ter)
|
|
|
NM_000352.6(ABCC8):c.2676C>G (p.Tyr892Ter)
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2694+1G>A
|
|
|
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
|
|
|
NM_000352.6(ABCC8):c.290+2del
|
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
NM_000352.6(ABCC8):c.3162+2T>A
|
|
|
NM_000352.6(ABCC8):c.3163-1G>A
|
|
|
NM_000352.6(ABCC8):c.3231del (p.Cys1078fs)
|
|
|
NM_000352.6(ABCC8):c.3302del (p.Leu1101fs)
|
|
|
NM_000352.6(ABCC8):c.3329+1G>A
|
|
|
NM_000352.6(ABCC8):c.3329+2T>C
|
|
|
NM_000352.6(ABCC8):c.3330-1G>C
|
|
|
NM_000352.6(ABCC8):c.3336del (p.Phe1112fs)
|
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
|
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)
|
rs1185034563
|
|
NM_000352.6(ABCC8):c.3804del (p.Asn1269fs)
|
|
|
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
|
|
|
NM_000352.6(ABCC8):c.3941_3966del (p.Ile1314fs)
|
|
|
NM_000352.6(ABCC8):c.3989_3990insG (p.Pro1331fs)
|
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
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>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
|
|
|
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
|
|
|
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.4259G>A (p.Arg1420His)
|
|
|
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.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4412-2A>C
|
|
|
NM_000352.6(ABCC8):c.4414G>A (p.Ala1472Thr)
|
|
|
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)
|
rs1953791177
|
|
NM_000352.6(ABCC8):c.4545+2T>C
|
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)
|
rs758754046
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
NM_000352.6(ABCC8):c.56del (p.Gln19fs)
|
rs2133738006
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.580A>T (p.Arg194Ter)
|
|
|
NM_000352.6(ABCC8):c.619_629del (p.Pro207fs)
|
|
|
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.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.822+2T>C
|
|
|
NM_000352.6(ABCC8):c.836_852dup (p.Ile287fs)
|
|
|
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
|
|
|
NM_000352.6(ABCC8):c.857_859delinsGCAT (p.Ala286fs)
|
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
|
NM_000352.6(ABCC8):c.945del (p.Pro317fs)
|
|
|
NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)
|
|
|