NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
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.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
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.1247T>C (p.Ile416Thr)
|
rs760892123
|
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.388-3T>G
|
rs764942250
|
0.00004
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
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.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
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.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.709-13A>G
|
rs746483754
|
0.00002
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
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.1085G>A (p.Gly362Glu)
|
rs150310121
|
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.1194+1G>A
|
rs769331400
|
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.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
NM_000016.6(ACADM):c.216+2T>C
|
rs398123073
|
0.00001
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
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.362C>T (p.Thr121Ile)
|
rs121434283
|
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.503A>C (p.Asp168Ala)
|
rs745844469
|
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.609A>C (p.Leu203Phe)
|
rs751829413
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
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.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.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
NC_000001.10:g.(76216232_76226806)_(76229365_?)del
|
|
|
NC_000001.10:g.(?_76190473)_(76200576_?)del
|
|
|
NC_000001.10:g.(?_76194064)_(76216241_?)del
|
|
|
NC_000001.10:g.(?_76198435)_(76205598_?)del
|
|
|
NC_000001.10:g.(?_76211473)_(76228458_?)del
|
|
|
NC_000001.10:g.(?_76228367)_(76228458_?)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.-6_6delinsACCCCGAGTG (p.Met1fs)
|
rs875989865
|
|
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.1022_1029del (p.Ala341fs)
|
rs2100452990
|
|
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)
|
rs771978135
|
|
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
|
|
|
NM_000016.6(ACADM):c.1042del (p.Arg348fs)
|
rs2100453109
|
|
NM_000016.6(ACADM):c.1045C>G (p.Arg349Gly)
|
rs148207467
|
|
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)
|
|
|
NM_000016.6(ACADM):c.104T>G (p.Leu35Ter)
|
rs1647090485
|
|
NM_000016.6(ACADM):c.1054_1057dup (p.Tyr353fs)
|
|
|
NM_000016.6(ACADM):c.1067T>C (p.Ile356Thr)
|
rs2100453278
|
|
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)
|
rs875989875
|
|
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.1120C>T (p.Gln374Ter)
|
rs2100453612
|
|
NM_000016.6(ACADM):c.1167del (p.Lys389fs)
|
|
|
NM_000016.6(ACADM):c.1175G>A (p.Arg392Lys)
|
rs2100453846
|
|
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)
|
rs776312173
|
|
NM_000016.6(ACADM):c.1186dup (p.Ile396fs)
|
|
|
NM_000016.6(ACADM):c.1189_1192del (p.Tyr397fs)
|
|
|
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)
|
rs875989877
|
|
NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser)
|
rs1553127216
|
|
NM_000016.6(ACADM):c.1203_1224del (p.Glu401fs)
|
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)
|
rs875989860
|
|
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs)
|
|
|
NM_000016.6(ACADM):c.1228_1230del (p.Ile410del)
|
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)
|
|
|
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)
|
|
|
NM_000016.6(ACADM):c.136_158dup (p.Phe55fs)
|
|
|
NM_000016.6(ACADM):c.165del (p.Phe55fs)
|
rs1319192670
|
|
NM_000016.6(ACADM):c.168del (p.Arg57fs)
|
rs2100362712
|
|
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.201T>A (p.Tyr67Ter)
|
rs754833969
|
|
NM_000016.6(ACADM):c.203del (p.Asp68fs)
|
rs2100362899
|
|
NM_000016.6(ACADM):c.216+1G>A
|
|
|
NM_000016.6(ACADM):c.216+2T>G
|
rs398123073
|
|
NM_000016.6(ACADM):c.217-1G>A
|
rs1570861829
|
|
NM_000016.6(ACADM):c.217-2A>G
|
rs1647169738
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.232dup (p.Ile78fs)
|
rs2100363479
|
|
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.273dup (p.Pro92fs)
|
|
|
NM_000016.6(ACADM):c.287-1G>C
|
rs794727694
|
|
NM_000016.6(ACADM):c.287-2A>G
|
rs1057518677
|
|
NM_000016.6(ACADM):c.2T>G (p.Met1Arg)
|
|
|
NM_000016.6(ACADM):c.30+1G>C
|
|
|
NM_000016.6(ACADM):c.30+2T>G
|
rs768596219
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.309del (p.Phe103fs)
|
|
|
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)
|
rs875989873
|
|
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.338C>A (p.Ala113Asp)
|
rs2100365905
|
|
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.343_348del (p.Gly115_Cys116del)
|
rs864621963
|
|
NM_000016.6(ACADM):c.355dup (p.Val119fs)
|
rs1553123071
|
|
NM_000016.6(ACADM):c.377del (p.Asn126fs)
|
rs2100366089
|
|
NM_000016.6(ACADM):c.383dup (p.Leu128fs)
|
rs1647189225
|
|
NM_000016.6(ACADM):c.387+1G>A
|
rs1057516983
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)
|
rs1553121887
|
|
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.443G>T (p.Arg148Ile)
|
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
NM_000016.6(ACADM):c.468+2T>C
|
rs1647214301
|
|
NM_000016.6(ACADM):c.468+2T>G
|
rs1647214301
|
|
NM_000016.6(ACADM):c.469-1G>A
|
rs875989869
|
|
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.47del (p.Ser16fs)
|
rs1325949559
|
|
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.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
NM_000016.6(ACADM):c.541_542del (p.Gly180_Asp181insTer)
|
rs1553123871
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)
|
rs1647480996
|
|
NM_000016.6(ACADM):c.573G>A (p.Trp191Ter)
|
|
|
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)
|
rs121434279
|
|
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)
|
|
|
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.617G>T (p.Arg206Leu)
|
rs200724875
|
|
NM_000016.6(ACADM):c.652del (p.Ala218fs)
|
rs2100408169
|
|
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.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.686del (p.Pro229fs)
|
rs1647873033
|
|
NM_000016.6(ACADM):c.703A>T (p.Arg235Ter)
|
|
|
NM_000016.6(ACADM):c.706A>T (p.Lys236Ter)
|
|
|
NM_000016.6(ACADM):c.709-2A>C
|
rs1553125211
|
|
NM_000016.6(ACADM):c.730T>C (p.Cys244Arg)
|
rs121434276
|
|
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.755T>G (p.Phe252Cys)
|
rs780510026
|
|
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)
|
rs2100417619
|
|
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.823_824dup (p.Ala276fs)
|
|
|
NM_000016.6(ACADM):c.835A>T (p.Lys279Ter)
|
|
|
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+1G>A
|
rs878853106
|
|
NM_000016.6(ACADM):c.862del (p.Ala288fs)
|
|
|
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.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.882_883del (p.Arg294fs)
|
rs796051901
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
NM_000016.6(ACADM):c.926dup (p.Gly310fs)
|
rs875989864
|
|
NM_000016.6(ACADM):c.927del (p.Phe309fs)
|
rs1557458562
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.949C>G (p.Gln317Glu)
|
rs1057516564
|
|
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.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.985A>C (p.Lys329Gln)
|
rs77931234
|
|
NM_000016.6(ACADM):c.989_1010del (p.Val330fs)
|
rs1553127172
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|