NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
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.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
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.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
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.2116+2T>C
|
rs786204676
|
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.2556+1G>A
|
rs749271190
|
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.3126_3127insAGGAACTG (p.Leu1043fs)
|
rs766033867
|
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.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)
|
rs748233295
|
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.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.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)
|
rs1371185696
|
0.00001
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
NM_000162.5(GCK):c.1155del (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
|
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
|
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.269A>C (p.Lys90Thr)
|
rs2128822695
|
|
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)
|
rs104894010
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)
|
rs1599937180
|
|
NM_000208.4(INSR):c.3610G>A (p.Ala1204Thr)
|
|
|
NM_000352.6(ABCC8):c.1012-2A>G
|
rs1554938866
|
|
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)
|
|
|
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)
|
|
|
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)
|
rs2133738359
|
|
NM_000352.6(ABCC8):c.1209del (p.Thr404fs)
|
|
|
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)
|
rs1564955779
|
|
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.1467+1G>T
|
rs1554933415
|
|
NM_000352.6(ABCC8):c.1467+2T>C
|
rs1057517128
|
|
NM_000352.6(ABCC8):c.1468-2A>C
|
rs1057516946
|
|
NM_000352.6(ABCC8):c.148+2T>G
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.149-1G>A
|
rs1554948445
|
|
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)
|
rs765090096
|
|
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs)
|
rs1057516665
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1817+1G>T
|
rs1554926476
|
|
NM_000352.6(ABCC8):c.1817+2T>C
|
|
|
NM_000352.6(ABCC8):c.1817+2_1817+6del
|
rs1554926465
|
|
NM_000352.6(ABCC8):c.1858del (p.Arg620fs)
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs)
|
|
|
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)
|
|
|
NM_000352.6(ABCC8):c.1973del (p.Gly658fs)
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
NM_000352.6(ABCC8):c.1del (p.Met1fs)
|
rs2133738442
|
|
NM_000352.6(ABCC8):c.2041-1G>A
|
rs1554924630
|
|
NM_000352.6(ABCC8):c.206del (p.Pro69fs)
|
|
|
NM_000352.6(ABCC8):c.2070del (p.Asp691fs)
|
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
NM_000352.6(ABCC8):c.2116+1G>A
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)
|
rs786204717
|
|
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)
|
rs1554924142
|
|
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)
|
rs760520781
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2507G>A (p.Arg836Gln)
|
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.267del (p.Ile89fs)
|
rs2133728449
|
|
NM_000352.6(ABCC8):c.2683dup (p.His895fs)
|
rs1057517019
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2694+1G>C
|
rs774574576
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)
|
rs192863214
|
|
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.3126_3129delinsTC (p.Leu1043fs)
|
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.3151_3162+15del
|
rs1554912381
|
|
NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs)
|
|
|
NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs)
|
|
|
NM_000352.6(ABCC8):c.326del (p.Pro109fs)
|
|
|
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)
|
rs1564890766
|
|
NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs)
|
|
|
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.3447T>A (p.Cys1149Ter)
|
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3454del (p.Ala1152fs)
|
|
|
NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs)
|
|
|
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)
|
rs1057516439
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)
|
|
|
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)
|
rs1554910621
|
|
NM_000352.6(ABCC8):c.3557+1G>A
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1del
|
rs1554910616
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.3650+2T>A
|
rs1057517274
|
|
NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs)
|
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)
|
|
|
NM_000352.6(ABCC8):c.3753+1G>A
|
rs1554906786
|
|
NM_000352.6(ABCC8):c.3753+1G>T
|
|
|
NM_000352.6(ABCC8):c.3753+2C>T
|
rs760196276
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3754-2A>G
|
rs1554906450
|
|
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
|
|
|
NM_000352.6(ABCC8):c.3842del (p.Gly1281fs)
|
|
|
NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs)
|
|
|
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)
|
|
|
NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)
|
|
|
NM_000352.6(ABCC8):c.3958del (p.Thr1320fs)
|
|
|
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)
|
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs)
|
rs1554905787
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs)
|
rs1057516890
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
NM_000352.6(ABCC8):c.4120-1G>T
|
rs1057517406
|
|
NM_000352.6(ABCC8):c.413-2A>G
|
rs1057517015
|
|
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)
|
rs886039877
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
NM_000352.6(ABCC8):c.415del (p.Leu139fs)
|
rs1057516591
|
|
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)
|
|
|
NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs)
|
|
|
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.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)
|
rs2133400786
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)
|
rs1554904554
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
|
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4412-2A>G
|
rs1554904136
|
|
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)
|
rs1591705863
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)
|
rs1057516655
|
|
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)
|
rs797045212
|
|
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
|
|
|
NM_000352.6(ABCC8):c.4545+2T>G
|
rs1554904006
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)
|
rs1554903370
|
|
NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer)
|
|
|
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
|
rs1847952281
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.580-2A>G
|
|
|
NM_000352.6(ABCC8):c.61del (p.Val21fs)
|
rs2133737961
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)
|
rs1057517139
|
|
NM_000352.6(ABCC8):c.698_699del (p.Met233fs)
|
|
|
NM_000352.6(ABCC8):c.707_708del (p.Phe236fs)
|
|
|
NM_000352.6(ABCC8):c.752_753del (p.Gly251fs)
|
|
|
NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)
|
|
|
NM_000352.6(ABCC8):c.795dup (p.Leu266fs)
|
rs1057516654
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.822+2T>C
|
|
|
NM_000352.6(ABCC8):c.823-1G>A
|
rs1247430874
|
|
NM_000352.6(ABCC8):c.966del (p.Ile323fs)
|
|
|
NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs)
|
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)
|
|
|
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
|
|
|
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)
|
rs1001873841
|
|
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)
|
rs879253757
|
|
NM_000525.4(KCNJ11):c.290dup (p.His97fs)
|
rs1554901854
|
|
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)
|
rs1554901829
|
|
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)
|
rs1591695840
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)
|
rs1554901747
|
|
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)
|
rs1554901718
|
|
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)
|
rs1554901690
|
|
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)
|
rs1570623881
|
|
NM_003051.4(SLC16A1):c.97del (p.Ser33fs)
|
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
|
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)
|
rs779135938
|
|
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
|
|
|
NM_005327.7(HADH):c.166_169del (p.Val56fs)
|
|
|
NM_005327.7(HADH):c.261+1G>A
|
rs1398546361
|
|
NM_005327.7(HADH):c.261+2T>A
|
|
|
NM_005327.7(HADH):c.262-2A>G
|
|
|
NM_005327.7(HADH):c.271G>T (p.Glu91Ter)
|
|
|
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)
|
rs766656997
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
NM_005327.7(HADH):c.419+1G>C
|
|
|
NM_005327.7(HADH):c.424dup (p.Thr142fs)
|
|
|
NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.636+2T>C
|
|
|
NM_005327.7(HADH):c.636+2_636+3insCT
|
rs2126234552
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.709+2T>C
|
|
|
NM_005327.7(HADH):c.710-1G>A
|
|
|
NM_005327.7(HADH):c.710-822C>T
|
rs183387994
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
Single allele
|
|
|