NM_000016.6(ACADM):c.216+10T>C
|
rs2275378
|
0.30596
|
NM_000016.6(ACADM):c.1161A>G (p.Val387=)
|
rs1061337
|
0.23824
|
NM_000016.6(ACADM):c.119-20T>C
|
rs74090724
|
0.05208
|
NM_000016.6(ACADM):c.351A>C (p.Thr117=)
|
rs74090726
|
0.05204
|
NM_000016.6(ACADM):c.489T>G (p.Pro163=)
|
rs78392995
|
0.02136
|
NM_000016.6(ACADM):c.900C>T (p.Thr300=)
|
rs17097429
|
0.01131
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_000016.6(ACADM):c.678A>G (p.Ala226=)
|
rs2229249
|
0.00108
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
NM_000016.6(ACADM):c.1194+11A>G
|
rs373059851
|
0.00084
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
NM_000016.6(ACADM):c.945+19G>A
|
rs200091478
|
0.00036
|
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)
|
rs150710061
|
0.00031
|
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys)
|
rs374358376
|
0.00028
|
NM_000016.6(ACADM):c.187G>C (p.Val63Leu)
|
rs149308824
|
0.00019
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser)
|
rs763613689
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
NM_000016.6(ACADM):c.600-19C>T
|
rs747837034
|
0.00009
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly)
|
rs768440594
|
0.00006
|
NM_000016.6(ACADM):c.1032T>A (p.Val344=)
|
rs774315514
|
0.00006
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu)
|
rs200376609
|
0.00006
|
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg)
|
rs751647383
|
0.00006
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
NM_000016.6(ACADM):c.945+9A>G
|
rs768654898
|
0.00006
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
NM_000016.6(ACADM):c.287-10G>C
|
rs368875210
|
0.00004
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
NM_000016.6(ACADM):c.426G>A (p.Lys142=)
|
rs565131848
|
0.00004
|
NM_000016.6(ACADM):c.468+19C>T
|
rs762564037
|
0.00004
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
NM_000016.6(ACADM):c.57T>C (p.His19=)
|
rs762984318
|
0.00004
|
NM_000016.6(ACADM):c.960A>G (p.Ser320=)
|
rs138728545
|
0.00004
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.118+10C>T
|
rs202218503
|
0.00003
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
NM_000016.6(ACADM):c.216+5G>T
|
rs528788578
|
0.00003
|
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg)
|
rs886042055
|
0.00003
|
NM_000016.6(ACADM):c.287-16C>T
|
rs368504798
|
0.00003
|
NM_000016.6(ACADM):c.388-14A>G
|
rs372525651
|
0.00003
|
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
|
rs750792245
|
0.00003
|
NM_000016.6(ACADM):c.426del (p.Lys143fs)
|
rs777998984
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000016.6(ACADM):c.456G>A (p.Glu152=)
|
rs771055994
|
0.00003
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000016.6(ACADM):c.599+3A>G
|
rs375921211
|
0.00003
|
NM_000016.6(ACADM):c.657T>C (p.Phe219=)
|
rs758331876
|
0.00003
|
NM_000016.6(ACADM):c.687A>C (p.Pro229=)
|
rs368276871
|
0.00003
|
NM_000016.6(ACADM):c.735A>T (p.Ser245=)
|
rs1451872855
|
0.00003
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met)
|
rs201809827
|
0.00002
|
NM_000016.6(ACADM):c.12G>C (p.Gly4=)
|
rs757845443
|
0.00002
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)
|
rs398123074
|
0.00002
|
NM_000016.6(ACADM):c.234T>G (p.Ile78Met)
|
rs1158457053
|
0.00002
|
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)
|
rs758476299
|
0.00002
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
NM_000016.6(ACADM):c.393G>A (p.Met131Ile)
|
rs368773005
|
0.00002
|
NM_000016.6(ACADM):c.474T>C (p.Tyr158=)
|
rs757198475
|
0.00002
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00002
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)
|
rs764268346
|
0.00002
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
NM_000016.6(ACADM):c.6A>C (p.Ala2=)
|
rs752190688
|
0.00002
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00002
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
NM_000016.6(ACADM):c.798C>T (p.Asp266=)
|
rs765170454
|
0.00002
|
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
|
rs771550655
|
0.00002
|
NM_000016.6(ACADM):c.984del (p.Met328fs)
|
rs747610156
|
0.00002
|
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)
|
rs796051896
|
0.00001
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
NM_000016.6(ACADM):c.1046G>A (p.Arg349Gln)
|
rs760335676
|
0.00001
|
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)
|
rs766140986
|
0.00001
|
NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys)
|
rs1227800781
|
0.00001
|
NM_000016.6(ACADM):c.1077A>G (p.Ala359=)
|
rs373828881
|
0.00001
|
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu)
|
rs150310121
|
0.00001
|
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val)
|
rs758973773
|
0.00001
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)
|
rs121434275
|
0.00001
|
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)
|
rs748110745
|
0.00001
|
NM_000016.6(ACADM):c.1167A>G (p.Lys389=)
|
rs1426726206
|
0.00001
|
NM_000016.6(ACADM):c.1194+1G>A
|
rs769331400
|
0.00001
|
NM_000016.6(ACADM):c.1194+3A>G
|
rs369945009
|
0.00001
|
NM_000016.6(ACADM):c.1194+9A>G
|
rs1570910495
|
0.00001
|
NM_000016.6(ACADM):c.1206T>C (p.Gly402=)
|
rs775020164
|
0.00001
|
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val)
|
rs1181589709
|
0.00001
|
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
|
rs139686925
|
0.00001
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
NM_000016.6(ACADM):c.1239T>C (p.Arg413=)
|
rs767921195
|
0.00001
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile)
|
rs759997176
|
0.00001
|
NM_000016.6(ACADM):c.126C>T (p.Thr42=)
|
rs765625793
|
0.00001
|
NM_000016.6(ACADM):c.171A>G (p.Arg57=)
|
rs1419381234
|
0.00001
|
NM_000016.6(ACADM):c.195A>C (p.Ala65=)
|
rs771649282
|
0.00001
|
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile)
|
rs927784210
|
0.00001
|
NM_000016.6(ACADM):c.216+2T>C
|
rs398123073
|
0.00001
|
NM_000016.6(ACADM):c.216+7A>G
|
rs1469967408
|
0.00001
|
NM_000016.6(ACADM):c.21A>G (p.Arg7=)
|
rs906559903
|
0.00001
|
NM_000016.6(ACADM):c.229C>T (p.Leu77=)
|
rs749859620
|
0.00001
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
NM_000016.6(ACADM):c.271_273del (p.Ile91del)
|
rs1463718964
|
0.00001
|
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys)
|
rs752612962
|
0.00001
|
NM_000016.6(ACADM):c.287-6C>T
|
rs771099349
|
0.00001
|
NM_000016.6(ACADM):c.287-7dup
|
rs886042084
|
0.00001
|
NM_000016.6(ACADM):c.296G>T (p.Gly99Val)
|
rs370608001
|
0.00001
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
0.00001
|
NM_000016.6(ACADM):c.30+4A>G
|
rs774531501
|
0.00001
|
NM_000016.6(ACADM):c.30+8G>A
|
rs760526492
|
0.00001
|
NM_000016.6(ACADM):c.31-5T>C
|
rs756654520
|
0.00001
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
NM_000016.6(ACADM):c.34C>T (p.Leu12=)
|
rs562722132
|
0.00001
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
NM_000016.6(ACADM):c.363T>C (p.Thr121=)
|
rs766081723
|
0.00001
|
NM_000016.6(ACADM):c.382T>C (p.Leu128=)
|
rs764651997
|
0.00001
|
NM_000016.6(ACADM):c.388-6C>T
|
rs776623274
|
0.00001
|
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)
|
rs875989854
|
0.00001
|
NM_000016.6(ACADM):c.402T>A (p.Ile134=)
|
rs757821130
|
0.00001
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
|
rs875989876
|
0.00001
|
NM_000016.6(ACADM):c.469-4C>G
|
rs1244966116
|
0.00001
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser)
|
rs1647480996
|
0.00001
|
NM_000016.6(ACADM):c.56A>G (p.His19Arg)
|
rs1446893994
|
0.00001
|
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser)
|
rs1010454733
|
0.00001
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000016.6(ACADM):c.599+2T>C
|
rs148260275
|
0.00001
|
NM_000016.6(ACADM):c.599+5G>A
|
rs875989861
|
0.00001
|
NM_000016.6(ACADM):c.600-6T>C
|
rs771343450
|
0.00001
|
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)
|
rs751829413
|
0.00001
|
NM_000016.6(ACADM):c.610T>C (p.Leu204=)
|
rs776993753
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.659C>T (p.Thr220Ile)
|
rs766249735
|
0.00001
|
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)
|
rs753627680
|
0.00001
|
NM_000016.6(ACADM):c.667A>G (p.Ile223Val)
|
rs747783631
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000016.6(ACADM):c.705A>G (p.Arg235=)
|
rs1647874596
|
0.00001
|
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)
|
rs1185026485
|
0.00001
|
NM_000016.6(ACADM):c.709-1G>A
|
rs941714381
|
0.00001
|
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)
|
rs1348176225
|
0.00001
|
NM_000016.6(ACADM):c.727C>T (p.Arg243Ter)
|
rs1462279583
|
0.00001
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000016.6(ACADM):c.756C>T (p.Phe252=)
|
rs749692458
|
0.00001
|
NM_000016.6(ACADM):c.771G>A (p.Val257=)
|
rs762143899
|
0.00001
|
NM_000016.6(ACADM):c.849+2T>C
|
rs780737237
|
0.00001
|
NM_000016.6(ACADM):c.850-2A>G
|
rs761317029
|
0.00001
|
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)
|
rs745793409
|
0.00001
|
NM_000016.6(ACADM):c.90A>G (p.Gln30=)
|
rs1047139742
|
0.00001
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
NM_000016.6(ACADM):c.936A>T (p.Leu312=)
|
rs770989035
|
0.00001
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
NM_000016.6(ACADM):c.981A>C (p.Ala327=)
|
rs951841268
|
0.00001
|
NC_000001.10:g.(?_76190473)_(76190522_?)del
|
|
|
NC_000001.10:g.(?_76190473)_(76194193_?)del
|
|
|
NC_000001.10:g.(?_76190473)_(76200576_?)del
|
|
|
NC_000001.10:g.(?_76190473)_(76228448_?)del
|
|
|
NC_000001.10:g.(?_76190473)_(76228448_?)dup
|
|
|
NC_000001.10:g.(?_76194064)_(76216241_?)del
|
|
|
NC_000001.10:g.(?_76198309)_(76200576_?)del
|
|
|
NC_000001.10:g.(?_76198435)_(76205598_?)del
|
|
|
NC_000001.10:g.(?_76199203)_(76205805_?)dup
|
|
|
NC_000001.10:g.(?_76205645)_(76228448_?)dup
|
|
|
NC_000001.10:g.(?_76211471)_(76211619_?)dup
|
|
|
NC_000001.10:g.(?_76211471)_(76227075_?)dup
|
|
|
NC_000001.10:g.(?_76211473)_(76228458_?)del
|
|
|
NC_000001.10:g.(?_76214646)_(76216163_?)del
|
|
|
NC_000001.10:g.(?_76216126)_(76216241_?)del
|
|
|
NC_000001.10:g.(?_76226787)_(76228448_?)del
|
|
|
NC_000001.10:g.(?_76228367)_(76228458_?)del
|
|
|
NC_000001.11:g.(?_75541435)_(76074884_?)del
|
|
|
NC_000001.11:g.(?_75724768)_(75724837_?)del
|
|
|
NC_000001.11:g.(?_75724778)_(75724827_?)del
|
|
|
NC_000001.11:g.(?_75724778)_(75750556_?)del
|
|
|
NC_000001.11:g.(?_75724778)_(75762773_?)del
|
|
|
NC_000001.11:g.(?_75761102)_(75762783_?)del
|
|
|
NC_000001.11:g.75745798_75745814TC[2]TTAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTCTTAGGTATTTTTT[1]
|
|
|
NM_000016.6(ACADM):c.*5delA
|
|
|
NM_000016.6(ACADM):c.*5dup (p.Ter422=)
|
rs3841786
|
|
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
|
rs875989865
|
|
NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn)
|
rs794727013
|
|
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)
|
rs1323513432
|
|
NM_000016.6(ACADM):c.1010dup (p.Tyr337Ter)
|
rs2100452908
|
|
NM_000016.6(ACADM):c.1011C>A (p.Tyr337Ter)
|
rs2100452915
|
|
NM_000016.6(ACADM):c.1012C>G (p.Gln338Glu)
|
rs796051896
|
|
NM_000016.6(ACADM):c.1017A>G (p.Arg339=)
|
|
|
NM_000016.6(ACADM):c.101G>T (p.Gly34Val)
|
|
|
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr)
|
rs1424545377
|
|
NM_000016.6(ACADM):c.1022_1029del (p.Ala341fs)
|
rs2100452990
|
|
NM_000016.6(ACADM):c.1023T>C (p.Ala341=)
|
|
|
NM_000016.6(ACADM):c.1029G>A (p.Glu343=)
|
|
|
NM_000016.6(ACADM):c.1032T>C (p.Val344=)
|
rs774315514
|
|
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)
|
rs771978135
|
|
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
|
|
|
NM_000016.6(ACADM):c.1041T>G (p.Gly347=)
|
rs2100453092
|
|
NM_000016.6(ACADM):c.1042del (p.Arg348fs)
|
rs2100453109
|
|
NM_000016.6(ACADM):c.1043G>A (p.Arg348His)
|
|
|
NM_000016.6(ACADM):c.1045C>G (p.Arg349Gly)
|
rs148207467
|
|
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)
|
rs760335676
|
|
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)
|
|
|
NM_000016.6(ACADM):c.104T>G (p.Leu35Ter)
|
rs1647090485
|
|
NM_000016.6(ACADM):c.1053C>T (p.Thr351=)
|
rs2100453178
|
|
NM_000016.6(ACADM):c.1054T>G (p.Tyr352Asp)
|
rs1557466834
|
|
NM_000016.6(ACADM):c.1054_1057dup (p.Tyr353fs)
|
|
|
NM_000016.6(ACADM):c.1066A>G (p.Ile356Val)
|
|
|
NM_000016.6(ACADM):c.1067T>C (p.Ile356Thr)
|
rs2100453278
|
|
NM_000016.6(ACADM):c.1070C>G (p.Ala357Gly)
|
|
|
NM_000016.6(ACADM):c.1071A>G (p.Ala357=)
|
|
|
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro)
|
rs1224909875
|
|
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)
|
rs875989875
|
|
NM_000016.6(ACADM):c.1086A>C (p.Gly362=)
|
rs2100453395
|
|
NM_000016.6(ACADM):c.108A>G (p.Gly36=)
|
rs2100347303
|
|
NM_000016.6(ACADM):c.1095A>G (p.Ala365=)
|
rs376993634
|
|
NM_000016.6(ACADM):c.10G>A (p.Gly4Arg)
|
|
|
NM_000016.6(ACADM):c.1101G>A (p.Gln367=)
|
rs2100453483
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
NM_000016.6(ACADM):c.1117G>A (p.Val373Met)
|
|
|
NM_000016.6(ACADM):c.1117G>C (p.Val373Leu)
|
|
|
NM_000016.6(ACADM):c.1120C>T (p.Gln374Ter)
|
rs2100453612
|
|
NM_000016.6(ACADM):c.1128T>C (p.Leu376=)
|
|
|
NM_000016.6(ACADM):c.1137T>C (p.Asn379=)
|
|
|
NM_000016.6(ACADM):c.1149A>G (p.Thr383=)
|
rs2100453695
|
|
NM_000016.6(ACADM):c.1155T>C (p.Tyr385=)
|
rs2100453722
|
|
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu)
|
rs1057518630
|
|
NM_000016.6(ACADM):c.1161A>T (p.Val387=)
|
|
|
NM_000016.6(ACADM):c.1167del (p.Lys389fs)
|
|
|
NM_000016.6(ACADM):c.1175G>A (p.Arg392Lys)
|
rs2100453846
|
|
NM_000016.6(ACADM):c.1176G>A (p.Arg392=)
|
rs2100453854
|
|
NM_000016.6(ACADM):c.1177G>A (p.Asp393Asn)
|
|
|
NM_000016.6(ACADM):c.118+10C>A
|
|
|
NM_000016.6(ACADM):c.118+11G>A
|
|
|
NM_000016.6(ACADM):c.118+17A>G
|
|
|
NM_000016.6(ACADM):c.118+1G>T
|
rs113887538
|
|
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr)
|
rs776312173
|
|
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)
|
rs776312173
|
|
NM_000016.6(ACADM):c.1186dup (p.Ile396fs)
|
|
|
NM_000016.6(ACADM):c.1188C>G (p.Ile396Met)
|
|
|
NM_000016.6(ACADM):c.1189_1192del (p.Tyr397fs)
|
|
|
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)
|
rs875989877
|
|
NM_000016.6(ACADM):c.119-10_119-8dup
|
rs761432730
|
|
NM_000016.6(ACADM):c.119-12A>G
|
|
|
NM_000016.6(ACADM):c.119-16A>T
|
rs760185676
|
|
NM_000016.6(ACADM):c.119-1G>C
|
rs1647165465
|
|
NM_000016.6(ACADM):c.119-5C>T
|
|
|
NM_000016.6(ACADM):c.119-7C>A
|
|
|
NM_000016.6(ACADM):c.119-7C>T
|
|
|
NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser)
|
rs1553127216
|
|
NM_000016.6(ACADM):c.1194+13A>G
|
|
|
NM_000016.6(ACADM):c.1194+16A>G
|
|
|
NM_000016.6(ACADM):c.1194+17T>C
|
|
|
NM_000016.6(ACADM):c.1194+19T>G
|
|
|
NM_000016.6(ACADM):c.1194+23del
|
|
|
NM_000016.6(ACADM):c.1194+23dup
|
|
|
NM_000016.6(ACADM):c.1194+6G>A
|
|
|
NM_000016.6(ACADM):c.1195-14T>A
|
|
|
NM_000016.6(ACADM):c.1195-14T>C
|
|
|
NM_000016.6(ACADM):c.1195-15A>G
|
|
|
NM_000016.6(ACADM):c.1195-17T>G
|
|
|
NM_000016.6(ACADM):c.1195-21_1195-11del
|
|
|
NM_000016.6(ACADM):c.1195-7del
|
rs2100456720
|
|
NM_000016.6(ACADM):c.1195-8dup
|
|
|
NM_000016.6(ACADM):c.1197T>C (p.Ile399=)
|
|
|
NM_000016.6(ACADM):c.1197T>G (p.Ile399Met)
|
|
|
NM_000016.6(ACADM):c.11G>T (p.Gly4Val)
|
|
|
NM_000016.6(ACADM):c.1203_1224del (p.Glu401fs)
|
|
|
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp)
|
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
NM_000016.6(ACADM):c.120G>C (p.Glu40Asp)
|
|
|
NM_000016.6(ACADM):c.1211C>T (p.Ser404Leu)
|
|
|
NM_000016.6(ACADM):c.1217T>G (p.Ile406Ser)
|
|
|
NM_000016.6(ACADM):c.1221A>G (p.Gln407=)
|
|
|
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)
|
rs875989860
|
|
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs)
|
|
|
NM_000016.6(ACADM):c.1227T>G (p.Leu409=)
|
rs2100456877
|
|
NM_000016.6(ACADM):c.1228_1230del (p.Ile410del)
|
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
NM_000016.6(ACADM):c.1236C>G (p.Ala412=)
|
|
|
NM_000016.6(ACADM):c.1239T>A (p.Arg413=)
|
rs767921195
|
|
NM_000016.6(ACADM):c.1248T>C (p.Ile416=)
|
|
|
NM_000016.6(ACADM):c.1253A>G (p.Lys418Arg)
|
|
|
NM_000016.6(ACADM):c.12G>A (p.Gly4=)
|
|
|
NM_000016.6(ACADM):c.12G>T (p.Gly4=)
|
rs757845443
|
|
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)
|
|
|
NM_000016.6(ACADM):c.132G>A (p.Gln44=)
|
rs1647165709
|
|
NM_000016.6(ACADM):c.135G>C (p.Gln45His)
|
|
|
NM_000016.6(ACADM):c.136_158dup (p.Phe55fs)
|
|
|
NM_000016.6(ACADM):c.150T>A (p.Ala50=)
|
rs1647165968
|
|
NM_000016.6(ACADM):c.153T>G (p.Thr51=)
|
rs1444170033
|
|
NM_000016.6(ACADM):c.154_156del (p.Ala52del)
|
rs2100362599
|
|
NM_000016.6(ACADM):c.160A>C (p.Lys54Gln)
|
|
|
NM_000016.6(ACADM):c.165T>C (p.Phe55=)
|
rs2100362680
|
|
NM_000016.6(ACADM):c.165del (p.Phe55fs)
|
rs1319192670
|
|
NM_000016.6(ACADM):c.166G>C (p.Ala56Pro)
|
|
|
NM_000016.6(ACADM):c.168C>T (p.Ala56=)
|
|
|
NM_000016.6(ACADM):c.168del (p.Arg57fs)
|
rs2100362712
|
|
NM_000016.6(ACADM):c.17G>A (p.Gly6Glu)
|
|
|
NM_000016.6(ACADM):c.183C>T (p.Ile61=)
|
rs1647166593
|
|
NM_000016.6(ACADM):c.1A>G (p.Met1Val)
|
rs1057516778
|
|
NM_000016.6(ACADM):c.1A>T (p.Met1Leu)
|
rs1057516778
|
|
NM_000016.6(ACADM):c.202G>A (p.Asp68Asn)
|
rs2100362891
|
|
NM_000016.6(ACADM):c.203del (p.Asp68fs)
|
rs2100362899
|
|
NM_000016.6(ACADM):c.206A>G (p.Lys69Arg)
|
rs927784210
|
|
NM_000016.6(ACADM):c.213T>G (p.Gly71=)
|
rs1316700534
|
|
NM_000016.6(ACADM):c.216+10T>G
|
rs2275378
|
|
NM_000016.6(ACADM):c.216+13A>G
|
|
|
NM_000016.6(ACADM):c.216+19A>C
|
|
|
NM_000016.6(ACADM):c.216+1G>A
|
|
|
NM_000016.6(ACADM):c.216+2T>G
|
rs398123073
|
|
NM_000016.6(ACADM):c.217-10T>C
|
rs1647169552
|
|
NM_000016.6(ACADM):c.217-12T>C
|
|
|
NM_000016.6(ACADM):c.217-12T>G
|
|
|
NM_000016.6(ACADM):c.217-13C>A
|
|
|
NM_000016.6(ACADM):c.217-16G>A
|
|
|
NM_000016.6(ACADM):c.217-1G>A
|
rs1570861829
|
|
NM_000016.6(ACADM):c.217-2A>G
|
rs1647169738
|
|
NM_000016.6(ACADM):c.217-4C>G
|
|
|
NM_000016.6(ACADM):c.217-8T>C
|
|
|
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu)
|
rs1647169888
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.225C>A (p.Val75=)
|
rs770293389
|
|
NM_000016.6(ACADM):c.225C>T (p.Val75=)
|
|
|
NM_000016.6(ACADM):c.232A>G (p.Ile78Val)
|
rs2100363487
|
|
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del)
|
rs1553122972
|
|
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
|
rs1448376709
|
|
NM_000016.6(ACADM):c.243_250del (p.Glu83fs)
|
rs2100363563
|
|
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)
|
rs2100332723
|
|
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)
|
rs398123075
|
|
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)
|
rs767649048
|
|
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr)
|
rs1647171392
|
|
NM_000016.6(ACADM):c.265A>C (p.Thr89Pro)
|
rs371194356
|
|
NM_000016.6(ACADM):c.270C>T (p.His90=)
|
|
|
NM_000016.6(ACADM):c.273dup (p.Pro92fs)
|
|
|
NM_000016.6(ACADM):c.279G>A (p.Glu93=)
|
rs2100363744
|
|
NM_000016.6(ACADM):c.286+14A>G
|
rs1570862121
|
|
NM_000016.6(ACADM):c.286+6C>T
|
|
|
NM_000016.6(ACADM):c.286+9_286+10insTTTTT
|
rs2100363808
|
|
NM_000016.6(ACADM):c.287-12T>C
|
|
|
NM_000016.6(ACADM):c.287-1G>C
|
rs794727694
|
|
NM_000016.6(ACADM):c.287-2A>G
|
rs1057518677
|
|
NM_000016.6(ACADM):c.287-5T>C
|
rs990706580
|
|
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser)
|
rs1553123053
|
|
NM_000016.6(ACADM):c.291T>C (p.Gly97=)
|
|
|
NM_000016.6(ACADM):c.2T>G (p.Met1Arg)
|
|
|
NM_000016.6(ACADM):c.30+10A>G
|
rs759413479
|
|
NM_000016.6(ACADM):c.30+11G>A
|
|
|
NM_000016.6(ACADM):c.30+14C>T
|
|
|
NM_000016.6(ACADM):c.30+18G>A
|
rs762704029
|
|
NM_000016.6(ACADM):c.30+18G>C
|
|
|
NM_000016.6(ACADM):c.30+18G>T
|
|
|
NM_000016.6(ACADM):c.30+1G>C
|
|
|
NM_000016.6(ACADM):c.30+20T>C
|
rs1570843347
|
|
NM_000016.6(ACADM):c.30+2T>G
|
rs768596219
|
|
NM_000016.6(ACADM):c.30+5G>C
|
|
|
NM_000016.6(ACADM):c.30+8G>C
|
|
|
NM_000016.6(ACADM):c.30+9G>A
|
rs770961707
|
|
NM_000016.6(ACADM):c.30+9G>C
|
rs770961707
|
|
NM_000016.6(ACADM):c.302G>A (p.Gly101Glu)
|
rs875989862
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.307T>C (p.Phe103Leu)
|
|
|
NM_000016.6(ACADM):c.309del (p.Phe103fs)
|
|
|
NM_000016.6(ACADM):c.31-12T>C
|
|
|
NM_000016.6(ACADM):c.31-12T>G
|
|
|
NM_000016.6(ACADM):c.31-13G>A
|
|
|
NM_000016.6(ACADM):c.31-16A>G
|
|
|
NM_000016.6(ACADM):c.31-17A>G
|
|
|
NM_000016.6(ACADM):c.31-19A>T
|
|
|
NM_000016.6(ACADM):c.31-20A>C
|
|
|
NM_000016.6(ACADM):c.31-2A>G
|
rs766727876
|
|
NM_000016.6(ACADM):c.31-4A>G
|
rs2100346922
|
|
NM_000016.6(ACADM):c.31-5T>A
|
|
|
NM_000016.6(ACADM):c.31-8C>T
|
rs1231281560
|
|
NM_000016.6(ACADM):c.310G>A (p.Asp104Asn)
|
rs2100365770
|
|
NM_000016.6(ACADM):c.311A>G (p.Asp104Gly)
|
rs1647187729
|
|
NM_000016.6(ACADM):c.321A>C (p.Leu107Phe)
|
rs2100365813
|
|
NM_000016.6(ACADM):c.321A>G (p.Leu107=)
|
rs2100365813
|
|
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)
|
rs875989873
|
|
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg)
|
rs1647188135
|
|
NM_000016.6(ACADM):c.32T>C (p.Val11Ala)
|
|
|
NM_000016.6(ACADM):c.331G>A (p.Glu111Lys)
|
|
|
NM_000016.6(ACADM):c.331G>T (p.Glu111Ter)
|
|
|
NM_000016.6(ACADM):c.333_345del (p.Glu111fs)
|
rs1647188308
|
|
NM_000016.6(ACADM):c.337G>A (p.Ala113Thr)
|
rs1570863351
|
|
NM_000016.6(ACADM):c.338C>A (p.Ala113Asp)
|
rs2100365905
|
|
NM_000016.6(ACADM):c.33C>T (p.Val11=)
|
rs1557440940
|
|
NM_000016.6(ACADM):c.342T>A (p.Tyr114Ter)
|
rs2100365911
|
|
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs)
|
rs1647188440
|
|
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)
|
rs875989863
|
|
NM_000016.6(ACADM):c.348T>C (p.Cys116=)
|
rs2100365971
|
|
NM_000016.6(ACADM):c.351_352delinsCA (p.Gly118Arg)
|
rs1553123069
|
|
NM_000016.6(ACADM):c.352G>T (p.Gly118Trp)
|
|
|
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
|
rs1647188699
|
|
NM_000016.6(ACADM):c.355dup (p.Val119fs)
|
rs1553123071
|
|
NM_000016.6(ACADM):c.366T>A (p.Ala122=)
|
|
|
NM_000016.6(ACADM):c.366T>C (p.Ala122=)
|
rs1647188974
|
|
NM_000016.6(ACADM):c.371A>G (p.Glu124Gly)
|
rs759305231
|
|
NM_000016.6(ACADM):c.377del (p.Asn126fs)
|
rs2100366089
|
|
NM_000016.6(ACADM):c.379T>C (p.Ser127Pro)
|
rs1647189185
|
|
NM_000016.6(ACADM):c.380C>A (p.Ser127Tyr)
|
|
|
NM_000016.6(ACADM):c.382T>G (p.Leu128Val)
|
|
|
NM_000016.6(ACADM):c.383dup (p.Leu128fs)
|
rs1647189225
|
|
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp)
|
rs886042076
|
|
NM_000016.6(ACADM):c.387+11T>C
|
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.388-19T>A
|
rs1553123252
|
|
NM_000016.6(ACADM):c.388-19T>C
|
|
|
NM_000016.6(ACADM):c.388-1G>A
|
rs2100370448
|
|
NM_000016.6(ACADM):c.388-4G>A
|
rs2100370415
|
|
NM_000016.6(ACADM):c.395C>A (p.Pro132His)
|
|
|
NM_000016.6(ACADM):c.396T>C (p.Pro132=)
|
rs1647211756
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
NM_000016.6(ACADM):c.399T>C (p.Ile133=)
|
rs2100370611
|
|
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)
|
rs1553121887
|
|
NM_000016.6(ACADM):c.404T>C (p.Ile135Thr)
|
|
|
NM_000016.6(ACADM):c.408T>C (p.Ala136=)
|
|
|
NM_000016.6(ACADM):c.417T>C (p.Asp139=)
|
|
|
NM_000016.6(ACADM):c.423_425del (p.Lys144del)
|
rs886042087
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
NM_000016.6(ACADM):c.425del (p.Lys142fs)
|
rs886042087
|
|
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
|
|
|
NM_000016.6(ACADM):c.431_434del (p.Lys144fs)
|
rs1057517356
|
|
NM_000016.6(ACADM):c.437del (p.Leu146fs)
|
rs749529577
|
|
NM_000016.6(ACADM):c.438G>A (p.Leu146=)
|
rs2100371014
|
|
NM_000016.6(ACADM):c.441G>T (p.Gly147=)
|
rs2100371058
|
|
NM_000016.6(ACADM):c.443G>T (p.Arg148Ile)
|
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.455A>G (p.Glu152Gly)
|
|
|
NM_000016.6(ACADM):c.459A>G (p.Pro153=)
|
rs2100371183
|
|
NM_000016.6(ACADM):c.460T>C (p.Leu154=)
|
rs2100371196
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
NM_000016.6(ACADM):c.468+11G>A
|
|
|
NM_000016.6(ACADM):c.468+20G>A
|
|
|
NM_000016.6(ACADM):c.468+2T>C
|
rs1647214301
|
|
NM_000016.6(ACADM):c.468+2T>G
|
rs1647214301
|
|
NM_000016.6(ACADM):c.468+3G>T
|
|
|
NM_000016.6(ACADM):c.468+7_468+8del
|
rs1647214461
|
|
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp)
|
rs1647214213
|
|
NM_000016.6(ACADM):c.469-16T>C
|
|
|
NM_000016.6(ACADM):c.469-19T>A
|
|
|
NM_000016.6(ACADM):c.469-19_469-18del
|
|
|
NM_000016.6(ACADM):c.469-20C>T
|
|
|
NM_000016.6(ACADM):c.469-2A>G
|
|
|
NM_000016.6(ACADM):c.469-6T>C
|
|
|
NM_000016.6(ACADM):c.469-8T>C
|
|
|
NM_000016.6(ACADM):c.469-9A>T
|
|
|
NM_000016.6(ACADM):c.471T>C (p.Ala157=)
|
rs2100389425
|
|
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)
|
rs1570876467
|
|
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)
|
rs1553123858
|
|
NM_000016.6(ACADM):c.475del (p.Cys159fs)
|
|
|
NM_000016.6(ACADM):c.477T>C (p.Cys159=)
|
|
|
NM_000016.6(ACADM):c.47del (p.Ser16fs)
|
rs1325949559
|
|
NM_000016.6(ACADM):c.480A>C (p.Val160=)
|
rs2100389477
|
|
NM_000016.6(ACADM):c.489T>C (p.Pro163=)
|
|
|
NM_000016.6(ACADM):c.493G>A (p.Ala165Thr)
|
|
|
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
|
rs1260394550
|
|
NM_000016.6(ACADM):c.498C>G (p.Gly166=)
|
|
|
NM_000016.6(ACADM):c.498C>T (p.Gly166=)
|
|
|
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly)
|
rs745844469
|
|
NM_000016.6(ACADM):c.507A>G (p.Val169=)
|
|
|
NM_000016.6(ACADM):c.509C>A (p.Ala170Asp)
|
|
|
NM_000016.6(ACADM):c.518del (p.Lys173fs)
|
rs2100389603
|
|
NM_000016.6(ACADM):c.520dup (p.Thr174fs)
|
|
|
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)
|
rs200754053
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
NM_000016.6(ACADM):c.530A>G (p.Glu177Gly)
|
|
|
NM_000016.6(ACADM):c.532A>C (p.Lys178Gln)
|
|
|
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
NM_000016.6(ACADM):c.546G>A (p.Glu182=)
|
|
|
NM_000016.6(ACADM):c.54T>C (p.Phe18=)
|
|
|
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)
|
rs1647480996
|
|
NM_000016.6(ACADM):c.555T>G (p.Ile185Met)
|
rs1647481193
|
|
NM_000016.6(ACADM):c.558T>C (p.Asn186=)
|
|
|
NM_000016.6(ACADM):c.573G>A (p.Trp191Ter)
|
|
|
NM_000016.6(ACADM):c.576A>G (p.Ile192Met)
|
rs1647482271
|
|
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)
|
rs121434279
|
|
NM_000016.6(ACADM):c.579C>G (p.Thr193=)
|
rs534575785
|
|
NM_000016.6(ACADM):c.579C>T (p.Thr193=)
|
rs534575785
|
|
NM_000016.6(ACADM):c.584G>A (p.Gly195Glu)
|
|
|
NM_000016.6(ACADM):c.589A>G (p.Lys197Glu)
|
rs1199770829
|
|
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
|
rs1647485086
|
|
NM_000016.6(ACADM):c.598T>C (p.Trp200Arg)
|
|
|
NM_000016.6(ACADM):c.599+11C>G
|
|
|
NM_000016.6(ACADM):c.599+12A>G
|
rs1403181967
|
|
NM_000016.6(ACADM):c.599+16C>T
|
|
|
NM_000016.6(ACADM):c.599+17A>T
|
|
|
NM_000016.6(ACADM):c.599+19C>T
|
|
|
NM_000016.6(ACADM):c.599+9T>C
|
rs752789232
|
|
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.600-12T>G
|
|
|
NM_000016.6(ACADM):c.600-1G>A
|
rs2100407767
|
|
NM_000016.6(ACADM):c.600-8T>C
|
|
|
NM_000016.6(ACADM):c.600-9A>G
|
|
|
NM_000016.6(ACADM):c.600-9A>T
|
rs772764643
|
|
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter)
|
rs1486350523
|
|
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)
|
rs1324329442
|
|
NM_000016.6(ACADM):c.614C>T (p.Ala205Val)
|
rs1647865251
|
|
NM_000016.6(ACADM):c.615A>G (p.Ala205=)
|
rs2100407904
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
NM_000016.6(ACADM):c.618T>C (p.Arg206=)
|
rs2100407938
|
|
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)
|
rs983879715
|
|
NM_000016.6(ACADM):c.625C>G (p.Pro209Ala)
|
rs765741682
|
|
NM_000016.6(ACADM):c.627A>G (p.Pro209=)
|
rs1337545473
|
|
NM_000016.6(ACADM):c.639T>C (p.Ala213=)
|
|
|
NM_000016.6(ACADM):c.643G>C (p.Ala215Pro)
|
|
|
NM_000016.6(ACADM):c.652del (p.Ala218fs)
|
rs2100408169
|
|
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
|
|
|
NM_000016.6(ACADM):c.656T>G (p.Phe219Cys)
|
rs2100408210
|
|
NM_000016.6(ACADM):c.659C>G (p.Thr220Ser)
|
|
|
NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)
|
|
|
NM_000016.6(ACADM):c.65C>G (p.Ser22Ter)
|
|
|
NM_000016.6(ACADM):c.673G>A (p.Glu225Lys)
|
rs886042056
|
|
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)
|
rs1570851702
|
|
NM_000016.6(ACADM):c.681T>C (p.Asp227=)
|
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.683C>T (p.Thr228Ile)
|
rs149678400
|
|
NM_000016.6(ACADM):c.686del (p.Pro229fs)
|
rs1647873033
|
|
NM_000016.6(ACADM):c.693T>C (p.Ile231=)
|
|
|
NM_000016.6(ACADM):c.694C>G (p.Gln232Glu)
|
rs2100408490
|
|
NM_000016.6(ACADM):c.6A>G (p.Ala2=)
|
rs752190688
|
|
NM_000016.6(ACADM):c.6A>T (p.Ala2=)
|
rs752190688
|
|
NM_000016.6(ACADM):c.702G>T (p.Gly234=)
|
|
|
NM_000016.6(ACADM):c.703A>T (p.Arg235Ter)
|
|
|
NM_000016.6(ACADM):c.706A>T (p.Lys236Ter)
|
|
|
NM_000016.6(ACADM):c.708+10T>A
|
rs1647876114
|
|
NM_000016.6(ACADM):c.708+11_708+14del
|
|
|
NM_000016.6(ACADM):c.708+15A>G
|
|
|
NM_000016.6(ACADM):c.708+19A>G
|
|
|
NM_000016.6(ACADM):c.708+3A>G
|
rs2100408597
|
|
NM_000016.6(ACADM):c.708+6G>A
|
rs958629659
|
|
NM_000016.6(ACADM):c.708+8A>C
|
rs372454296
|
|
NM_000016.6(ACADM):c.708+9T>C
|
rs991394488
|
|
NM_000016.6(ACADM):c.709-13A>C
|
|
|
NM_000016.6(ACADM):c.709-18T>C
|
|
|
NM_000016.6(ACADM):c.709-19A>G
|
|
|
NM_000016.6(ACADM):c.709-2A>C
|
rs1553125211
|
|
NM_000016.6(ACADM):c.709-4T>C
|
rs1648074655
|
|
NM_000016.6(ACADM):c.709-7T>C
|
|
|
NM_000016.6(ACADM):c.712T>C (p.Leu238=)
|
|
|
NM_000016.6(ACADM):c.721G>A (p.Gly241Ser)
|
rs2100417374
|
|
NM_000016.6(ACADM):c.725A>G (p.Gln242Arg)
|
|
|
NM_000016.6(ACADM):c.729A>G (p.Arg243=)
|
rs2100417405
|
|
NM_000016.6(ACADM):c.732T>C (p.Cys244=)
|
rs2100417419
|
|
NM_000016.6(ACADM):c.738T>C (p.Asp246=)
|
|
|
NM_000016.6(ACADM):c.741_742dup (p.Arg248fs)
|
rs2100417454
|
|
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)
|
rs875989867
|
|
NM_000016.6(ACADM):c.744A>C (p.Arg248Ser)
|
rs2100417476
|
|
NM_000016.6(ACADM):c.746G>A (p.Gly249Glu)
|
rs1648077584
|
|
NM_000016.6(ACADM):c.751G>A (p.Val251Ile)
|
|
|
NM_000016.6(ACADM):c.753C>A (p.Val251=)
|
|
|
NM_000016.6(ACADM):c.753C>T (p.Val251=)
|
rs2100417528
|
|
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)
|
rs780510026
|
|
NM_000016.6(ACADM):c.762T>C (p.Asp254=)
|
|
|
NM_000016.6(ACADM):c.775A>G (p.Lys259Glu)
|
|
|
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)
|
rs2100417619
|
|
NM_000016.6(ACADM):c.77A>C (p.Lys26Thr)
|
rs2100347143
|
|
NM_000016.6(ACADM):c.783T>C (p.Asn261=)
|
|
|
NM_000016.6(ACADM):c.785T>A (p.Val262Asp)
|
rs1489192992
|
|
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)
|
rs1557457623
|
|
NM_000016.6(ACADM):c.799G>T (p.Gly267Ter)
|
|
|
NM_000016.6(ACADM):c.799_803del (p.Gly267fs)
|
rs2100417735
|
|
NM_000016.6(ACADM):c.801del (p.Ala268fs)
|
rs2100417752
|
|
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)
|
rs875989872
|
|
NM_000016.6(ACADM):c.81C>T (p.Ala27=)
|
|
|
NM_000016.6(ACADM):c.820A>G (p.Met274Val)
|
|
|
NM_000016.6(ACADM):c.823_824dup (p.Ala276fs)
|
|
|
NM_000016.6(ACADM):c.835A>T (p.Lys279Ter)
|
|
|
NM_000016.6(ACADM):c.839C>G (p.Thr280Ser)
|
|
|
NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)
|
|
|
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr)
|
rs121434282
|
|
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)
|
rs780504551
|
|
NM_000016.6(ACADM):c.849+11T>A
|
|
|
NM_000016.6(ACADM):c.849+12G>A
|
|
|
NM_000016.6(ACADM):c.849+13G>A
|
|
|
NM_000016.6(ACADM):c.849+13G>C
|
|
|
NM_000016.6(ACADM):c.849+13G>T
|
|
|
NM_000016.6(ACADM):c.849+14G>A
|
|
|
NM_000016.6(ACADM):c.849+14_849+15insCCAT
|
|
|
NM_000016.6(ACADM):c.849+9T>A
|
|
|
NM_000016.6(ACADM):c.850-10A>T
|
|
|
NM_000016.6(ACADM):c.850-15A>G
|
|
|
NM_000016.6(ACADM):c.850-16_850-8dup
|
|
|
NM_000016.6(ACADM):c.850-19T>C
|
|
|
NM_000016.6(ACADM):c.850-3_850-2insTAAATACTTAAAAT
|
rs1553125391
|
|
NM_000016.6(ACADM):c.850-6T>C
|
|
|
NM_000016.6(ACADM):c.855T>C (p.Ala285=)
|
rs2100420216
|
|
NM_000016.6(ACADM):c.859G>C (p.Gly287Arg)
|
|
|
NM_000016.6(ACADM):c.862del (p.Ala288fs)
|
|
|
NM_000016.6(ACADM):c.863_865dup (p.Ala288_Val289insAla)
|
|
|
NM_000016.6(ACADM):c.865G>T (p.Val289Phe)
|
rs1648137997
|
|
NM_000016.6(ACADM):c.866T>C (p.Val289Ala)
|
rs1057520215
|
|
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)
|
rs769906625
|
|
NM_000016.6(ACADM):c.876A>G (p.Ala292=)
|
|
|
NM_000016.6(ACADM):c.879A>G (p.Gln293=)
|
rs1302160137
|
|
NM_000016.6(ACADM):c.87A>G (p.Arg29=)
|
rs2100347177
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.881_882delinsTT (p.Arg294Ile)
|
|
|
NM_000016.6(ACADM):c.882_883del (p.Arg294fs)
|
rs796051901
|
|
NM_000016.6(ACADM):c.891T>A (p.Asp297Glu)
|
|
|
NM_000016.6(ACADM):c.893_898del (p.Glu298_Thr300delinsAla)
|
|
|
NM_000016.6(ACADM):c.900C>G (p.Thr300=)
|
|
|
NM_000016.6(ACADM):c.903G>A (p.Lys301=)
|
rs2100420394
|
|
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr)
|
rs875989855
|
|
NM_000016.6(ACADM):c.918G>A (p.Arg306=)
|
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
NM_000016.6(ACADM):c.926dup (p.Gly310fs)
|
rs875989864
|
|
NM_000016.6(ACADM):c.927C>G (p.Phe309Leu)
|
rs771550655
|
|
NM_000016.6(ACADM):c.927del (p.Phe309fs)
|
rs1557458562
|
|
NM_000016.6(ACADM):c.936A>G (p.Leu312=)
|
|
|
NM_000016.6(ACADM):c.945+11T>G
|
|
|
NM_000016.6(ACADM):c.945+13C>T
|
|
|
NM_000016.6(ACADM):c.945+18T>C
|
rs2100420600
|
|
NM_000016.6(ACADM):c.945+18dup
|
|
|
NM_000016.6(ACADM):c.945+20C>G
|
|
|
NM_000016.6(ACADM):c.945+8T>G
|
rs1570893452
|
|
NM_000016.6(ACADM):c.946-10T>C
|
|
|
NM_000016.6(ACADM):c.946-13T>C
|
|
|
NM_000016.6(ACADM):c.946-14C>A
|
|
|
NM_000016.6(ACADM):c.946-14_946-12del
|
|
|
NM_000016.6(ACADM):c.946-20T>G
|
|
|
NM_000016.6(ACADM):c.946-2dup
|
rs1648822448
|
|
NM_000016.6(ACADM):c.946-4C>A
|
rs752961658
|
|
NM_000016.6(ACADM):c.946-6T>C
|
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.946-9T>C
|
rs1057524311
|
|
NM_000016.6(ACADM):c.949C>G (p.Gln317Glu)
|
rs1057516564
|
|
NM_000016.6(ACADM):c.950A>T (p.Gln317Leu)
|
rs1557466604
|
|
NM_000016.6(ACADM):c.954A>G (p.Ala318=)
|
|
|
NM_000016.6(ACADM):c.955A>G (p.Ile319Val)
|
|
|
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)
|
rs1057517103
|
|
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)
|
rs1057516485
|
|
NM_000016.6(ACADM):c.972T>A (p.Ala324=)
|
|
|
NM_000016.6(ACADM):c.973dup (p.Glu325fs)
|
rs1648824675
|
|
NM_000016.6(ACADM):c.977T>C (p.Met326Thr)
|
rs786204631
|
|
NM_000016.6(ACADM):c.982A>G (p.Met328Val)
|
rs1648825926
|
|
NM_000016.6(ACADM):c.983T>C (p.Met328Thr)
|
|
|
NM_000016.6(ACADM):c.987A>G (p.Lys329=)
|
|
|
NM_000016.6(ACADM):c.989_1010del (p.Val330fs)
|
rs1553127172
|
|
NM_000016.6(ACADM):c.98C>G (p.Pro33Arg)
|
|
|
NM_000016.6(ACADM):c.990T>A (p.Val330=)
|
rs2100452828
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000016.6(ACADM):c.99A>G (p.Pro33=)
|
rs2100347227
|
|