NM_004453.4(ETFDH):c.1117-112A>G
|
rs77408245
|
0.02379
|
NM_004453.4(ETFDH):c.176-237A>G
|
rs62351198
|
0.01967
|
NM_004453.4(ETFDH):c.1286-258G>A
|
rs76266747
|
0.01470
|
NM_004453.4(ETFDH):c.1117-232G>A
|
rs73858521
|
0.01359
|
NM_004453.4(ETFDH):c.1117-284C>G
|
rs73858520
|
0.01359
|
NM_004453.3(ETFDH):c.-239G>A
|
rs113981461
|
0.01253
|
NM_004453.4(ETFDH):c.34+146T>A
|
rs112649720
|
0.01253
|
NM_004453.4(ETFDH):c.405+173G>A
|
rs112942784
|
0.01238
|
NM_004453.4(ETFDH):c.606+121A>G
|
rs77776406
|
0.01238
|
NM_004453.4(ETFDH):c.175+98T>C
|
rs4546197
|
0.01235
|
NM_004453.4(ETFDH):c.34+266A>G
|
rs78185171
|
0.01233
|
NM_004453.4(ETFDH):c.34+57C>A
|
rs75443706
|
0.01163
|
NM_004453.4(ETFDH):c.685-203A>G
|
rs146221617
|
0.00566
|
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)
|
rs77484245
|
0.00552
|
NM_004453.4(ETFDH):c.1286-154C>T
|
rs139584691
|
0.00424
|
NM_004453.4(ETFDH):c.487+50G>A
|
rs61708999
|
0.00372
|
NM_004453.4(ETFDH):c.684+13A>C
|
rs149407913
|
0.00366
|
NM_004453.4(ETFDH):c.831+294G>A
|
rs149460428
|
0.00360
|
NM_004453.4(ETFDH):c.381C>T (p.Leu127=)
|
rs149278633
|
0.00355
|
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)
|
rs143015234
|
0.00114
|
NM_004453.4(ETFDH):c.1812G>A (p.Val604=)
|
rs17843967
|
0.00103
|
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=)
|
rs142475999
|
0.00084
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
NM_004453.4(ETFDH):c.627T>C (p.Gly209=)
|
rs148708761
|
0.00063
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
NM_004453.4(ETFDH):c.441T>C (p.Phe147=)
|
rs138149265
|
0.00028
|
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)
|
rs143873407
|
0.00025
|
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)
|
rs150105001
|
0.00023
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=)
|
rs150020458
|
0.00017
|
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=)
|
rs1423401867
|
0.00015
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
NM_004453.4(ETFDH):c.1764T>C (p.His588=)
|
rs141180629
|
0.00009
|
NM_004453.4(ETFDH):c.1690+20C>T
|
rs376588328
|
0.00006
|
NM_004453.4(ETFDH):c.846T>C (p.Asp282=)
|
rs371927583
|
0.00006
|
NM_004453.4(ETFDH):c.882T>C (p.Thr294=)
|
rs770579929
|
0.00006
|
NM_004453.4(ETFDH):c.35-15G>A
|
rs529832630
|
0.00005
|
NM_004453.4(ETFDH):c.678A>G (p.Ala226=)
|
rs372865586
|
0.00005
|
NM_004453.4(ETFDH):c.831+4T>C
|
rs752971257
|
0.00005
|
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=)
|
rs1333454413
|
0.00004
|
NM_004453.4(ETFDH):c.285A>G (p.Glu95=)
|
rs201268972
|
0.00004
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
NM_004453.4(ETFDH):c.1468+12_1468+13del
|
rs769120603
|
0.00003
|
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=)
|
rs566844923
|
0.00003
|
NM_004453.4(ETFDH):c.606+14T>C
|
rs139113830
|
0.00003
|
NM_004453.4(ETFDH):c.642T>C (p.Ile214=)
|
rs201049444
|
0.00003
|
NM_004453.4(ETFDH):c.651C>T (p.Asn217=)
|
rs562079045
|
0.00003
|
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=)
|
rs749280294
|
0.00002
|
NM_004453.4(ETFDH):c.176-7C>T
|
rs776816664
|
0.00002
|
NM_004453.4(ETFDH):c.474G>A (p.Val158=)
|
rs1350126940
|
0.00002
|
NM_004453.4(ETFDH):c.558A>G (p.Gln186=)
|
rs143688210
|
0.00002
|
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)
|
rs182144074
|
0.00002
|
NM_004453.4(ETFDH):c.972+8A>G
|
rs778686663
|
0.00002
|
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=)
|
rs765063539
|
0.00001
|
NM_004453.4(ETFDH):c.108T>G (p.Thr36=)
|
rs140731939
|
0.00001
|
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=)
|
rs781782240
|
0.00001
|
NM_004453.4(ETFDH):c.1116+10C>T
|
rs1417738324
|
0.00001
|
NM_004453.4(ETFDH):c.1117-4T>C
|
rs940742984
|
0.00001
|
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=)
|
rs772194053
|
0.00001
|
NM_004453.4(ETFDH):c.1286-16A>G
|
rs1163678059
|
0.00001
|
NM_004453.4(ETFDH):c.1286-8A>T
|
rs1054882235
|
0.00001
|
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=)
|
rs770765347
|
0.00001
|
NM_004453.4(ETFDH):c.1293T>C (p.His431=)
|
rs745559526
|
0.00001
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=)
|
rs1188056766
|
0.00001
|
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=)
|
rs765652548
|
0.00001
|
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=)
|
rs781354386
|
0.00001
|
NM_004453.4(ETFDH):c.1377C>T (p.His459=)
|
rs1243627865
|
0.00001
|
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=)
|
rs1774615019
|
0.00001
|
NM_004453.4(ETFDH):c.1468+8A>G
|
rs755214741
|
0.00001
|
NM_004453.4(ETFDH):c.1506C>T (p.Cys502=)
|
rs1405831535
|
0.00001
|
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=)
|
rs940960964
|
0.00001
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=)
|
rs1305282556
|
0.00001
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=)
|
rs761505388
|
0.00001
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
NM_004453.4(ETFDH):c.219A>T (p.Ile73=)
|
rs1297866480
|
0.00001
|
NM_004453.4(ETFDH):c.22C>G (p.Leu8Val)
|
rs796051956
|
0.00001
|
NM_004453.4(ETFDH):c.267G>A (p.Gln89=)
|
rs1773880095
|
0.00001
|
NM_004453.4(ETFDH):c.27C>T (p.Ser9=)
|
rs746903871
|
0.00001
|
NM_004453.4(ETFDH):c.34+7G>A
|
rs1436016069
|
0.00001
|
NM_004453.4(ETFDH):c.342C>T (p.Leu114=)
|
rs770193214
|
0.00001
|
NM_004453.4(ETFDH):c.363A>G (p.Pro121=)
|
rs1773885365
|
0.00001
|
NM_004453.4(ETFDH):c.399G>A (p.Glu133=)
|
rs1319398122
|
0.00001
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
NM_004453.4(ETFDH):c.459A>G (p.Lys153=)
|
rs749702132
|
0.00001
|
NM_004453.4(ETFDH):c.507T>C (p.His169=)
|
rs772286040
|
0.00001
|
NM_004453.4(ETFDH):c.552C>T (p.Gly184=)
|
rs752262349
|
0.00001
|
NM_004453.4(ETFDH):c.654T>C (p.Asp218=)
|
rs1241684347
|
0.00001
|
NM_004453.4(ETFDH):c.738A>G (p.Glu246=)
|
rs1212314821
|
0.00001
|
NM_004453.4(ETFDH):c.768A>G (p.Leu256=)
|
rs1481843055
|
0.00001
|
NM_004453.4(ETFDH):c.777G>A (p.Lys259=)
|
rs1365101415
|
0.00001
|
NM_004453.4(ETFDH):c.832-19T>G
|
rs775057755
|
0.00001
|
NM_004453.4(ETFDH):c.832-5T>C
|
rs768022965
|
0.00001
|
NM_004453.4(ETFDH):c.832-8T>A
|
rs912481593
|
0.00001
|
NM_004453.4(ETFDH):c.84A>G (p.Leu28=)
|
rs1053865022
|
0.00001
|
NM_004453.4(ETFDH):c.870A>G (p.Arg290=)
|
rs752487495
|
0.00001
|
NM_004453.4(ETFDH):c.969T>G (p.Leu323=)
|
rs753462513
|
0.00001
|
NM_004453.4(ETFDH):c.-41CCT[1]
|
rs765693695
|
|
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=)
|
rs1476673975
|
|
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=)
|
|
|
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=)
|
|
|
NM_004453.4(ETFDH):c.1053A>T (p.Pro351=)
|
|
|
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=)
|
rs2150312272
|
|
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=)
|
rs1774391973
|
|
NM_004453.4(ETFDH):c.1092A>G (p.Arg364=)
|
|
|
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=)
|
rs1774392244
|
|
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=)
|
rs1245353864
|
|
NM_004453.4(ETFDH):c.1116+13A>G
|
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
NM_004453.4(ETFDH):c.1117-19T>G
|
|
|
NM_004453.4(ETFDH):c.1117-20C>G
|
|
|
NM_004453.4(ETFDH):c.1117-9T>C
|
|
|
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=)
|
rs2126309197
|
|
NM_004453.4(ETFDH):c.114T>C (p.Thr38=)
|
|
|
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=)
|
rs2126309228
|
|
NM_004453.4(ETFDH):c.1170T>C (p.Gly390=)
|
|
|
NM_004453.4(ETFDH):c.117G>A (p.Val39=)
|
rs2150304380
|
|
NM_004453.4(ETFDH):c.1182T>G (p.Val394=)
|
rs1230662616
|
|
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=)
|
rs2126309283
|
|
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=)
|
rs1198347315
|
|
NM_004453.4(ETFDH):c.1239T>C (p.Ser413=)
|
|
|
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=)
|
rs769904185
|
|
NM_004453.4(ETFDH):c.1257T>A (p.Thr419=)
|
|
|
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=)
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
NM_004453.4(ETFDH):c.1285+14G>A
|
|
|
NM_004453.4(ETFDH):c.1285+16G>A
|
|
|
NM_004453.4(ETFDH):c.1285+17T>C
|
|
|
NM_004453.4(ETFDH):c.1286-10T>C
|
rs2126314578
|
|
NM_004453.4(ETFDH):c.1286-12T>C
|
|
|
NM_004453.4(ETFDH):c.1286-15T>C
|
|
|
NM_004453.4(ETFDH):c.1286-20T>C
|
|
|
NM_004453.4(ETFDH):c.129T>C (p.Thr43=)
|
|
|
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=)
|
rs1580422521
|
|
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=)
|
rs1580422538
|
|
NM_004453.4(ETFDH):c.1332A>G (p.Val444=)
|
|
|
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=)
|
rs1580422667
|
|
NM_004453.4(ETFDH):c.1386G>T (p.Leu462=)
|
|
|
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=)
|
|
|
NM_004453.4(ETFDH):c.1395T>C (p.Tyr465=)
|
|
|
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=)
|
rs1400986353
|
|
NM_004453.4(ETFDH):c.1398A>T (p.Gly466=)
|
|
|
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=)
|
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
NM_004453.4(ETFDH):c.1468+10A>G
|
rs144205191
|
|
NM_004453.4(ETFDH):c.1468+10A>T
|
rs144205191
|
|
NM_004453.4(ETFDH):c.1468+14G>A
|
|
|
NM_004453.4(ETFDH):c.1468+14G>C
|
|
|
NM_004453.4(ETFDH):c.1468+16G>A
|
|
|
NM_004453.4(ETFDH):c.1468+20G>A
|
|
|
NM_004453.4(ETFDH):c.1468+20G>C
|
|
|
NM_004453.4(ETFDH):c.1468+7C>T
|
|
|
NM_004453.4(ETFDH):c.1468+9A>G
|
|
|
NM_004453.4(ETFDH):c.1469-17C>T
|
|
|
NM_004453.4(ETFDH):c.1469-18C>T
|
|
|
NM_004453.4(ETFDH):c.1469-19T>G
|
rs2126316001
|
|
NM_004453.4(ETFDH):c.1469-4G>A
|
|
|
NM_004453.4(ETFDH):c.1469-4dup
|
|
|
NM_004453.4(ETFDH):c.1469-6_1469-4del
|
|
|
NM_004453.4(ETFDH):c.1469-7G>T
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=)
|
|
|
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=)
|
rs752947878
|
|
NM_004453.4(ETFDH):c.150C>T (p.Pro50=)
|
|
|
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=)
|
|
|
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=)
|
rs2126316304
|
|
NM_004453.4(ETFDH):c.1554C>T (p.Leu518=)
|
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=)
|
|
|
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=)
|
rs566844923
|
|
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=)
|
rs566844923
|
|
NM_004453.4(ETFDH):c.1563T>C (p.Ser521=)
|
|
|
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=)
|
|
|
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=)
|
rs2126316485
|
|
NM_004453.4(ETFDH):c.1593T>C (p.His531=)
|
rs2126316550
|
|
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=)
|
|
|
NM_004453.4(ETFDH):c.1599G>A (p.Gln533=)
|
|
|
NM_004453.4(ETFDH):c.15A>G (p.Leu5=)
|
|
|
NM_004453.4(ETFDH):c.1602G>C (p.Pro534=)
|
|
|
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=)
|
|
|
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)
|
rs1580423557
|
|
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=)
|
|
|
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=)
|
|
|
NM_004453.4(ETFDH):c.1641T>C (p.Asn547=)
|
|
|
NM_004453.4(ETFDH):c.1648C>T (p.Leu550=)
|
|
|
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=)
|
|
|
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=)
|
rs1408118210
|
|
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=)
|
rs2126316862
|
|
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=)
|
rs2126316924
|
|
NM_004453.4(ETFDH):c.1677A>G (p.Arg559=)
|
|
|
NM_004453.4(ETFDH):c.1690+14T>C
|
|
|
NM_004453.4(ETFDH):c.1690+18T>C
|
|
|
NM_004453.4(ETFDH):c.1690+203del
|
rs77764489
|
|
NM_004453.4(ETFDH):c.1690+9T>G
|
|
|
NM_004453.4(ETFDH):c.1691-14_1691-9del
|
|
|
NM_004453.4(ETFDH):c.1691-15A>G
|
|
|
NM_004453.4(ETFDH):c.1691-15A>T
|
|
|
NM_004453.4(ETFDH):c.1691-18T>C
|
|
|
NM_004453.4(ETFDH):c.1691-250A>G
|
rs11941800
|
|
NM_004453.4(ETFDH):c.1691-4T>C
|
|
|
NM_004453.4(ETFDH):c.1691-7T>C
|
|
|
NM_004453.4(ETFDH):c.1691-8_1691-2dup
|
rs1326899328
|
|
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=)
|
rs2126320707
|
|
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=)
|
rs2126320794
|
|
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=)
|
rs1774697442
|
|
NM_004453.4(ETFDH):c.175+15G>C
|
rs2150304437
|
|
NM_004453.4(ETFDH):c.175+18T>A
|
rs778154689
|
|
NM_004453.4(ETFDH):c.175+19A>G
|
|
|
NM_004453.4(ETFDH):c.175+206dup
|
rs142393789
|
|
NM_004453.4(ETFDH):c.175+20C>G
|
|
|
NM_004453.4(ETFDH):c.175+3A>G
|
rs781151266
|
|
NM_004453.4(ETFDH):c.176-19G>T
|
|
|
NM_004453.4(ETFDH):c.176-20A>G
|
|
|
NM_004453.4(ETFDH):c.176-4C>T
|
|
|
NM_004453.4(ETFDH):c.176-5C>T
|
rs2150305143
|
|
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=)
|
rs1580425819
|
|
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=)
|
|
|
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=)
|
rs2126321129
|
|
NM_004453.4(ETFDH):c.1806C>T (p.Asn602=)
|
|
|
NM_004453.4(ETFDH):c.180G>A (p.Val60=)
|
|
|
NM_004453.4(ETFDH):c.1815A>G (p.Val605=)
|
rs1248188975
|
|
NM_004453.4(ETFDH):c.1818T>C (p.Pro606=)
|
|
|
NM_004453.4(ETFDH):c.183C>T (p.Asn61=)
|
rs2150305147
|
|
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=)
|
|
|
NM_004453.4(ETFDH):c.21G>A (p.Lys7=)
|
rs1232501551
|
|
NM_004453.4(ETFDH):c.234T>A (p.Pro78=)
|
|
|
NM_004453.4(ETFDH):c.243C>A (p.Leu81=)
|
|
|
NM_004453.4(ETFDH):c.243C>G (p.Leu81=)
|
rs1186680703
|
|
NM_004453.4(ETFDH):c.24G>T (p.Leu8=)
|
|
|
NM_004453.4(ETFDH):c.252T>C (p.Ala84=)
|
|
|
NM_004453.4(ETFDH):c.259C>T (p.Leu87=)
|
rs2150305192
|
|
NM_004453.4(ETFDH):c.268T>C (p.Leu90=)
|
|
|
NM_004453.4(ETFDH):c.270G>A (p.Leu90=)
|
rs2150305205
|
|
NM_004453.4(ETFDH):c.282T>C (p.His94=)
|
|
|
NM_004453.4(ETFDH):c.288G>A (p.Lys96=)
|
|
|
NM_004453.4(ETFDH):c.291C>T (p.Asp97=)
|
rs2150305224
|
|
NM_004453.4(ETFDH):c.300G>A (p.Val100=)
|
rs1580396868
|
|
NM_004453.4(ETFDH):c.306A>C (p.Leu102=)
|
rs2150305233
|
|
NM_004453.4(ETFDH):c.306A>G (p.Leu102=)
|
rs2150305233
|
|
NM_004453.4(ETFDH):c.312G>A (p.Glu104=)
|
|
|
NM_004453.4(ETFDH):c.330A>C (p.Gly110=)
|
rs2150305251
|
|
NM_004453.4(ETFDH):c.339T>G (p.Thr113=)
|
|
|
NM_004453.4(ETFDH):c.34+11A>G
|
|
|
NM_004453.4(ETFDH):c.34+16C>A
|
|
|
NM_004453.4(ETFDH):c.34+17G>A
|
|
|
NM_004453.4(ETFDH):c.348G>A (p.Gly116=)
|
|
|
NM_004453.4(ETFDH):c.35-11T>C
|
|
|
NM_004453.4(ETFDH):c.35-16C>T
|
|
|
NM_004453.4(ETFDH):c.35-18T>A
|
|
|
NM_004453.4(ETFDH):c.35-20T>C
|
|
|
NM_004453.4(ETFDH):c.35-4G>A
|
|
|
NM_004453.4(ETFDH):c.35-6G>A
|
rs753999138
|
|
NM_004453.4(ETFDH):c.35-6G>T
|
rs753999138
|
|
NM_004453.4(ETFDH):c.35-7T>C
|
rs2150304320
|
|
NM_004453.4(ETFDH):c.35-8T>C
|
rs2150304318
|
|
NM_004453.4(ETFDH):c.36A>G (p.Ala12=)
|
rs201254467
|
|
NM_004453.4(ETFDH):c.387A>G (p.Pro129=)
|
rs1295185280
|
|
NM_004453.4(ETFDH):c.38A>G (p.Tyr13Cys)
|
rs746966542
|
|
NM_004453.4(ETFDH):c.405+118del
|
rs373172859
|
|
NM_004453.4(ETFDH):c.405+118dup
|
rs373172859
|
|
NM_004453.4(ETFDH):c.405+11T>C
|
|
|
NM_004453.4(ETFDH):c.405+13G>A
|
rs375086504
|
|
NM_004453.4(ETFDH):c.405+13G>T
|
|
|
NM_004453.4(ETFDH):c.406-13_406-11del
|
|
|
NM_004453.4(ETFDH):c.406-185dup
|
rs35572796
|
|
NM_004453.4(ETFDH):c.406-19T>C
|
|
|
NM_004453.4(ETFDH):c.406-20T>C
|
|
|
NM_004453.4(ETFDH):c.406-5T>C
|
|
|
NM_004453.4(ETFDH):c.411A>C (p.Pro137=)
|
rs1187372386
|
|
NM_004453.4(ETFDH):c.411A>G (p.Pro137=)
|
|
|
NM_004453.4(ETFDH):c.420T>C (p.Thr140=)
|
|
|
NM_004453.4(ETFDH):c.423T>A (p.Pro141=)
|
|
|
NM_004453.4(ETFDH):c.426A>C (p.Val142=)
|
|
|
NM_004453.4(ETFDH):c.426A>G (p.Val142=)
|
|
|
NM_004453.4(ETFDH):c.471T>C (p.Pro157=)
|
|
|
NM_004453.4(ETFDH):c.471T>G (p.Pro157=)
|
|
|
NM_004453.4(ETFDH):c.477A>G (p.Pro159=)
|
rs2150306341
|
|
NM_004453.4(ETFDH):c.477A>T (p.Pro159=)
|
rs2150306341
|
|
NM_004453.4(ETFDH):c.487+13G>T
|
|
|
NM_004453.4(ETFDH):c.487+14A>T
|
|
|
NM_004453.4(ETFDH):c.487+15A>G
|
|
|
NM_004453.4(ETFDH):c.487+15A>T
|
|
|
NM_004453.4(ETFDH):c.487+20C>A
|
|
|
NM_004453.4(ETFDH):c.487+8A>G
|
|
|
NM_004453.4(ETFDH):c.487+8A>T
|
rs1773956780
|
|
NM_004453.4(ETFDH):c.487+9T>C
|
|
|
NM_004453.4(ETFDH):c.488-12A>G
|
rs180889150
|
|
NM_004453.4(ETFDH):c.488-17T>A
|
|
|
NM_004453.4(ETFDH):c.488-18T>C
|
|
|
NM_004453.4(ETFDH):c.488-6T>C
|
|
|
NM_004453.4(ETFDH):c.492T>C (p.Leu164=)
|
rs1773968944
|
|
NM_004453.4(ETFDH):c.504T>C (p.Asn168=)
|
rs1773969287
|
|
NM_004453.4(ETFDH):c.510C>G (p.Gly170=)
|
rs747148665
|
|
NM_004453.4(ETFDH):c.51T>C (p.His17=)
|
|
|
NM_004453.4(ETFDH):c.534T>C (p.His178=)
|
|
|
NM_004453.4(ETFDH):c.540G>C (p.Val180=)
|
|
|
NM_004453.4(ETFDH):c.540G>T (p.Val180=)
|
rs1580400148
|
|
NM_004453.4(ETFDH):c.543C>T (p.Ser181=)
|
|
|
NM_004453.4(ETFDH):c.54C>T (p.Ala18=)
|
|
|
NM_004453.4(ETFDH):c.561A>G (p.Ala187=)
|
rs1318375497
|
|
NM_004453.4(ETFDH):c.567C>T (p.Ala189=)
|
rs1773972695
|
|
NM_004453.4(ETFDH):c.582A>G (p.Val194=)
|
rs2150306629
|
|
NM_004453.4(ETFDH):c.585C>T (p.Tyr195=)
|
|
|
NM_004453.4(ETFDH):c.603T>G (p.Ala201=)
|
|
|
NM_004453.4(ETFDH):c.606+10G>A
|
rs2150306651
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
NM_004453.4(ETFDH):c.606+13T>C
|
|
|
NM_004453.4(ETFDH):c.606+18T>G
|
|
|
NM_004453.4(ETFDH):c.606+3T>G
|
|
|
NM_004453.4(ETFDH):c.607-12T>A
|
|
|
NM_004453.4(ETFDH):c.607-12dup
|
rs527944729
|
|
NM_004453.4(ETFDH):c.607-15T>A
|
|
|
NM_004453.4(ETFDH):c.607-20_607-19del
|
|
|
NM_004453.4(ETFDH):c.607-289G>A
|
rs72969646
|
|
NM_004453.4(ETFDH):c.607-7T>C
|
|
|
NM_004453.4(ETFDH):c.607-8_607-7del
|
rs2150308959
|
|
NM_004453.4(ETFDH):c.607-9C>A
|
|
|
NM_004453.4(ETFDH):c.624T>C (p.Asp208=)
|
|
|
NM_004453.4(ETFDH):c.630T>C (p.Ser210=)
|
rs1456188483
|
|
NM_004453.4(ETFDH):c.639A>G (p.Gly213=)
|
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
NM_004453.4(ETFDH):c.657A>G (p.Val219=)
|
|
|
NM_004453.4(ETFDH):c.660G>C (p.Gly220=)
|
rs2150309010
|
|
NM_004453.4(ETFDH):c.672T>C (p.Asp224=)
|
|
|
NM_004453.4(ETFDH):c.675T>C (p.Gly225=)
|
|
|
NM_004453.4(ETFDH):c.684+11T>C
|
|
|
NM_004453.4(ETFDH):c.684+19T>C
|
|
|
NM_004453.4(ETFDH):c.684+265AAG[5]
|
rs10672606
|
|
NM_004453.4(ETFDH):c.684+266_684+267insAGAA
|
rs144456156
|
|
NM_004453.4(ETFDH):c.684+3_684+9dup
|
rs773592713
|
|
NM_004453.4(ETFDH):c.684+7C>G
|
|
|
NM_004453.4(ETFDH):c.685-8C>G
|
|
|
NM_004453.4(ETFDH):c.685-9G>C
|
|
|
NM_004453.4(ETFDH):c.687A>G (p.Ala229=)
|
|
|
NM_004453.4(ETFDH):c.6G>C (p.Leu2=)
|
rs2150300532
|
|
NM_004453.4(ETFDH):c.705G>A (p.Leu235=)
|
|
|
NM_004453.4(ETFDH):c.709C>T (p.Leu237=)
|
rs2150310947
|
|
NM_004453.4(ETFDH):c.714T>C (p.His238=)
|
|
|
NM_004453.4(ETFDH):c.726A>G (p.Thr242=)
|
rs2150310952
|
|
NM_004453.4(ETFDH):c.750A>T (p.Gly250=)
|
rs2150310974
|
|
NM_004453.4(ETFDH):c.774G>A (p.Lys258=)
|
rs1014508077
|
|
NM_004453.4(ETFDH):c.783T>C (p.Asp261=)
|
|
|
NM_004453.4(ETFDH):c.789A>G (p.Arg263=)
|
|
|
NM_004453.4(ETFDH):c.78A>G (p.Leu26=)
|
|
|
NM_004453.4(ETFDH):c.807A>G (p.Gln269=)
|
|
|
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=)
|
|
|
NM_004453.4(ETFDH):c.823C>T (p.Leu275=)
|
|
|
NM_004453.4(ETFDH):c.825G>A (p.Leu275=)
|
|
|
NM_004453.4(ETFDH):c.831+18T>C
|
|
|
NM_004453.4(ETFDH):c.831+19G>A
|
|
|
NM_004453.4(ETFDH):c.831+8G>A
|
|
|
NM_004453.4(ETFDH):c.832-13T>C
|
|
|
NM_004453.4(ETFDH):c.832-15T>A
|
rs1057522644
|
|
NM_004453.4(ETFDH):c.832-16C>T
|
|
|
NM_004453.4(ETFDH):c.832-3del
|
rs376153836
|
|
NM_004453.4(ETFDH):c.832-4_832-3insA
|
|
|
NM_004453.4(ETFDH):c.834A>G (p.Leu278=)
|
rs761077518
|
|
NM_004453.4(ETFDH):c.860A>G (p.Lys287Arg)
|
rs796051955
|
|
NM_004453.4(ETFDH):c.867G>A (p.Gly289=)
|
rs1774343547
|
|
NM_004453.4(ETFDH):c.879C>T (p.His293=)
|
rs1774344228
|
|
NM_004453.4(ETFDH):c.888T>C (p.Gly296=)
|
rs1174948040
|
|
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)
|
|
|
NM_004453.4(ETFDH):c.906T>C (p.His302=)
|
rs2150311696
|
|
NM_004453.4(ETFDH):c.909C>T (p.Thr303=)
|
|
|
NM_004453.4(ETFDH):c.90T>C (p.Ala30=)
|
|
|
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=)
|
rs2150311706
|
|
NM_004453.4(ETFDH):c.924C>T (p.Phe308=)
|
rs1261212490
|
|
NM_004453.4(ETFDH):c.927C>G (p.Leu309=)
|
|
|
NM_004453.4(ETFDH):c.933T>C (p.His311=)
|
rs2150311727
|
|
NM_004453.4(ETFDH):c.936G>A (p.Leu312=)
|
|
|
NM_004453.4(ETFDH):c.939T>C (p.Asn313=)
|
rs2150311730
|
|
NM_004453.4(ETFDH):c.942A>G (p.Glu314=)
|
|
|
NM_004453.4(ETFDH):c.951C>G (p.Pro317=)
|
|
|
NM_004453.4(ETFDH):c.952C>T (p.Leu318=)
|
rs763002171
|
|
NM_004453.4(ETFDH):c.954A>G (p.Leu318=)
|
|
|
NM_004453.4(ETFDH):c.966T>C (p.Gly322=)
|
rs2150311745
|
|
NM_004453.4(ETFDH):c.972+10A>G
|
rs745409764
|
|
NM_004453.4(ETFDH):c.972+11T>A
|
|
|
NM_004453.4(ETFDH):c.972+11T>C
|
|
|
NM_004453.4(ETFDH):c.972+16A>G
|
|
|
NM_004453.4(ETFDH):c.972+16A>T
|
|
|
NM_004453.4(ETFDH):c.972+7T>A
|
rs1580414056
|
|
NM_004453.4(ETFDH):c.973-13G>A
|
|
|
NM_004453.4(ETFDH):c.973-14T>C
|
|
|
NM_004453.4(ETFDH):c.973-17_973-16del
|
|
|
NM_004453.4(ETFDH):c.973-19A>G
|
|
|
NM_004453.4(ETFDH):c.973-9A>T
|
|
|
NM_004453.4(ETFDH):c.975T>C (p.Val325=)
|
rs2150312198
|
|
NM_004453.4(ETFDH):c.978T>C (p.Gly326=)
|
|
|
NM_004453.4(ETFDH):c.981A>G (p.Leu327=)
|
rs2150312206
|
|
NM_004453.4(ETFDH):c.996A>G (p.Pro332=)
|
rs566071326
|
|