NM_005373.3(MPL):c.690A>G (p.Glu230=)
|
rs16830693
|
0.05134
|
NM_005373.3(MPL):c.*662C>T
|
rs1763698
|
0.02711
|
NM_005373.3(MPL):c.340G>A (p.Val114Met)
|
rs12731981
|
0.02191
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
NM_005373.3(MPL):c.*1054G>A
|
rs139528456
|
0.01153
|
NM_005373.3(MPL):c.543T>C (p.Gly181=)
|
rs17572791
|
0.00819
|
NM_005373.3(MPL):c.*709C>T
|
rs185654501
|
0.00766
|
NM_005373.3(MPL):c.1309-10C>T
|
rs139486615
|
0.00602
|
NM_005373.3(MPL):c.*601C>T
|
rs527941032
|
0.00524
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
NM_005373.3(MPL):c.210G>A (p.Pro70=)
|
rs6086
|
0.00482
|
NM_005373.3(MPL):c.1653+3G>A
|
rs149625825
|
0.00367
|
NM_005373.3(MPL):c.*1506G>A
|
rs115780311
|
0.00362
|
NM_005373.3(MPL):c.*364C>T
|
rs138892634
|
0.00233
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)
|
rs141063159
|
0.00183
|
NM_005373.3(MPL):c.*1603A>C
|
rs142139493
|
0.00182
|
NM_005373.3(MPL):c.*1180G>A
|
rs117166528
|
0.00181
|
NM_005373.3(MPL):c.*1116G>A
|
rs144177827
|
0.00175
|
NM_005373.3(MPL):c.*914C>T
|
rs186474263
|
0.00162
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_005373.3(MPL):c.*573G>A
|
rs192016153
|
0.00093
|
NM_005373.3(MPL):c.*748C>T
|
rs190071085
|
0.00087
|
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)
|
rs190983971
|
0.00082
|
NM_005373.3(MPL):c.962G>A (p.Arg321Gln)
|
rs149265851
|
0.00072
|
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)
|
rs139770726
|
0.00059
|
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
|
rs140091584
|
0.00056
|
NM_005373.3(MPL):c.1570C>T (p.Leu524=)
|
rs146372205
|
0.00055
|
NM_005373.3(MPL):c.793C>T (p.Leu265Phe)
|
rs117656396
|
0.00053
|
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)
|
rs561818288
|
0.00049
|
NM_005373.3(MPL):c.*657C>T
|
rs886046352
|
0.00048
|
NM_005373.3(MPL):c.*871G>A
|
rs540648773
|
0.00044
|
NM_005373.3(MPL):c.1197G>A (p.Arg399=)
|
rs148945299
|
0.00042
|
NM_005373.3(MPL):c.*1112G>A
|
rs543515941
|
0.00039
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_005373.3(MPL):c.1536G>A (p.Leu512=)
|
rs137990502
|
0.00031
|
NM_005373.3(MPL):c.*94C>A
|
rs77858532
|
0.00027
|
NM_005373.3(MPL):c.1794C>T (p.Cys598=)
|
rs143457144
|
0.00025
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
NM_005373.3(MPL):c.963G>T (p.Arg321=)
|
rs138636505
|
0.00024
|
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)
|
rs150004498
|
0.00023
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
0.00021
|
NM_005373.3(MPL):c.*1486T>C
|
rs149940158
|
0.00020
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)
|
rs142737453
|
0.00017
|
NM_005373.3(MPL):c.690+11C>T
|
rs144769485
|
0.00012
|
NM_005373.3(MPL):c.*86C>T
|
rs777930147
|
0.00011
|
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
|
rs121913611
|
0.00011
|
NM_005373.3(MPL):c.*1674A>T
|
rs536844021
|
0.00010
|
NM_005373.3(MPL):c.*970C>T
|
rs777372120
|
0.00009
|
NM_005373.3(MPL):c.*971G>A
|
rs886046355
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)
|
rs781129632
|
0.00008
|
NM_005373.3(MPL):c.1650C>T (p.Ser550=)
|
rs377715574
|
0.00008
|
NM_005373.3(MPL):c.318G>A (p.Pro106=)
|
rs370001905
|
0.00007
|
NM_005373.3(MPL):c.*882C>T
|
rs777894453
|
0.00006
|
NM_005373.3(MPL):c.1446G>A (p.Arg482=)
|
rs1046680606
|
0.00006
|
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)
|
rs763568293
|
0.00006
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
NM_005373.3(MPL):c.1002C>T (p.Cys334=)
|
rs141526418
|
0.00005
|
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)
|
rs201998783
|
0.00005
|
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
|
rs6087
|
0.00005
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
NM_005373.3(MPL):c.*204C>A
|
rs938693392
|
0.00004
|
NM_005373.3(MPL):c.*400C>T
|
rs558390922
|
0.00004
|
NM_005373.3(MPL):c.*612G>A
|
rs1037571354
|
0.00004
|
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)
|
rs148434485
|
0.00004
|
NM_005373.3(MPL):c.1385G>C (p.Arg462Pro)
|
rs1175548872
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005373.3(MPL):c.1629T>C (p.Leu543=)
|
rs150816330
|
0.00004
|
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
|
rs137952228
|
0.00004
|
NM_005373.3(MPL):c.*578C>T
|
rs565438629
|
0.00003
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)
|
rs368753117
|
0.00003
|
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
|
rs776753502
|
0.00003
|
NM_005373.3(MPL):c.*255C>T
|
rs1218431899
|
0.00002
|
NM_005373.3(MPL):c.*901G>A
|
rs1267506501
|
0.00002
|
NM_005373.3(MPL):c.1134C>T (p.Tyr378=)
|
rs749571171
|
0.00002
|
NM_005373.3(MPL):c.1645C>G (p.Leu549Val)
|
rs746440317
|
0.00002
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
NM_005373.3(MPL):c.*1021T>C
|
rs1038231812
|
0.00001
|
NM_005373.3(MPL):c.*183G>A
|
rs1228514763
|
0.00001
|
NM_005373.3(MPL):c.-13A>C
|
rs746384923
|
0.00001
|
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)
|
rs751975712
|
0.00001
|
NM_005373.3(MPL):c.1119T>C (p.Gly373=)
|
rs748581599
|
0.00001
|
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)
|
rs779132175
|
0.00001
|
NM_005373.3(MPL):c.1238C>T (p.Pro413Leu)
|
rs886046350
|
0.00001
|
NM_005373.3(MPL):c.1309-1G>T
|
rs1243113655
|
0.00001
|
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)
|
rs886046351
|
0.00001
|
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)
|
rs561724539
|
0.00001
|
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly)
|
rs1328988667
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_005373.3(MPL):c.185C>T (p.Thr62Ile)
|
rs201727975
|
0.00001
|
NM_005373.3(MPL):c.237G>C (p.Leu79=)
|
rs769101640
|
0.00001
|
NM_005373.3(MPL):c.273C>T (p.Tyr91=)
|
rs759361904
|
0.00001
|
NM_005373.3(MPL):c.391G>A (p.Gly131Ser)
|
rs775250202
|
0.00001
|
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
|
rs780341646
|
0.00001
|
NM_005373.3(MPL):c.641C>T (p.Pro214Leu)
|
rs775165199
|
0.00001
|
NM_005373.3(MPL):c.854-3T>C
|
rs201514537
|
0.00001
|
NM_005373.3(MPL):c.95C>T (p.Ala32Val)
|
rs886046348
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NC_000001.10:g.(43814674_43814933)_(43815031_43817886)del
|
|
|
NM_005373.3(MPL):c.*1126A>G
|
rs543250497
|
|
NM_005373.3(MPL):c.*1216A>G
|
rs886046356
|
|
NM_005373.3(MPL):c.*1220C>T
|
rs6689207
|
|
NM_005373.3(MPL):c.*1351T>C
|
rs886046357
|
|
NM_005373.3(MPL):c.*1506G>C
|
rs115780311
|
|
NM_005373.3(MPL):c.*170G>A
|
rs574563778
|
|
NM_005373.3(MPL):c.*326A>C
|
rs1647104727
|
|
NM_005373.3(MPL):c.*701_*705dup
|
rs752218261
|
|
NM_005373.3(MPL):c.*705del
|
rs752218261
|
|
NM_005373.3(MPL):c.*725T>C
|
rs1647108363
|
|
NM_005373.3(MPL):c.*924C>G
|
rs886046354
|
|
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter)
|
rs139770726
|
|
NM_005373.3(MPL):c.1058del (p.His353fs)
|
|
|
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)
|
rs546510242
|
|
NM_005373.3(MPL):c.1145_1146insAAGGATGTGAATAA (p.Pro382_Phe383insArgMetTer)
|
|
|
NM_005373.3(MPL):c.1145del (p.Pro382fs)
|
|
|
NM_005373.3(MPL):c.1192del (p.Trp398fs)
|
rs1647059319
|
|
NM_005373.3(MPL):c.1270_1271del (p.Gln424fs)
|
|
|
NM_005373.3(MPL):c.1277G>C (p.Arg426Pro)
|
|
|
NM_005373.3(MPL):c.12G>A (p.Trp4Ter)
|
rs1647004673
|
|
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)
|
rs1553128241
|
|
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
|
rs1292577132
|
|
NM_005373.3(MPL):c.131C>T (p.Thr44Ile)
|
rs772445486
|
|
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs)
|
|
|
NM_005373.3(MPL):c.1437C>T (p.Asp479=)
|
rs865799838
|
|
NM_005373.3(MPL):c.1468+1G>C
|
rs2153919319
|
|
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs)
|
|
|
NM_005373.3(MPL):c.1527C>A (p.Gly509=)
|
rs1570472144
|
|
NM_005373.3(MPL):c.155G>A (p.Trp52Ter)
|
|
|
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)
|
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
NM_005373.3(MPL):c.1653+2T>C
|
|
|
NM_005373.3(MPL):c.1670C>A (p.Ser557Ter)
|
rs2153920030
|
|
NM_005373.3(MPL):c.1671dup (p.Asp558fs)
|
rs1647100516
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)
|
rs121913612
|
|
NM_005373.3(MPL):c.196C>T (p.Leu66=)
|
rs886046349
|
|
NM_005373.3(MPL):c.205T>C (p.Tyr69His)
|
|
|
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
|
rs1406715863
|
|
NM_005373.3(MPL):c.244C>T (p.Gln82Ter)
|
rs1647009785
|
|
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
|
rs763144679
|
|
NM_005373.3(MPL):c.269G>A (p.Arg90Gln)
|
rs766638870
|
|
NM_005373.3(MPL):c.280C>T (p.Gln94Ter)
|
rs1647010155
|
|
NM_005373.3(MPL):c.292C>T (p.Gln98Ter)
|
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005373.3(MPL):c.351_352insTGTCTCTTATA (p.Gln118fs)
|
|
|
NM_005373.3(MPL):c.365_366delinsT (p.Gln122fs)
|
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
NM_005373.3(MPL):c.378del (p.Phe126fs)
|
rs587778515
|
|
NM_005373.3(MPL):c.382G>T (p.Asp128Tyr)
|
|
|
NM_005373.3(MPL):c.397C>T (p.Pro133Ser)
|
|
|
NM_005373.3(MPL):c.398del (p.Pro133fs)
|
|
|
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
|
|
|
NM_005373.3(MPL):c.408C>G (p.Pro136=)
|
rs146579984
|
|
NM_005373.3(MPL):c.408_409del (p.Ser137fs)
|
|
|
NM_005373.3(MPL):c.413del (p.Ile138fs)
|
rs1343123940
|
|
NM_005373.3(MPL):c.442G>C (p.Gly148Arg)
|
rs1647014391
|
|
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs)
|
|
|
NM_005373.3(MPL):c.461G>A (p.Trp154Ter)
|
rs1647014537
|
|
NM_005373.3(MPL):c.475C>G (p.Pro159Ala)
|
rs1647014633
|
|
NM_005373.3(MPL):c.49C>T (p.Pro17Ser)
|
rs1647004869
|
|
NM_005373.3(MPL):c.509_526delinsACTGGT (p.Arg170_Pro176delinsHisTrpSer)
|
|
|
NM_005373.3(MPL):c.556C>T (p.Gln186Ter)
|
rs121913610
|
|
NM_005373.3(MPL):c.56del (p.Asn19fs)
|
|
|
NM_005373.3(MPL):c.579C>A (p.Cys193Ter)
|
|
|
NM_005373.3(MPL):c.611C>T (p.Ser204Phe)
|
rs1647015861
|
|
NM_005373.3(MPL):c.614C>T (p.Ala205Val)
|
|
|
NM_005373.3(MPL):c.678C>A (p.Ser226=)
|
rs2153916873
|
|
NM_005373.3(MPL):c.680del (p.Pro227fs)
|
|
|
NM_005373.3(MPL):c.695C>A (p.Ser232Ter)
|
rs1647019292
|
|
NM_005373.3(MPL):c.731C>A (p.Ser244Ter)
|
|
|
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter)
|
rs1647019645
|
|
NM_005373.3(MPL):c.757T>C (p.Trp253Arg)
|
|
|
NM_005373.3(MPL):c.758G>A (p.Trp253Ter)
|
rs1647019692
|
|
NM_005373.3(MPL):c.761T>C (p.Leu254Pro)
|
|
|
NM_005373.3(MPL):c.763C>T (p.Gln255Ter)
|
rs771519257
|
|
NM_005373.3(MPL):c.807G>A (p.Trp269Ter)
|
rs1647020318
|
|
NM_005373.3(MPL):c.815G>A (p.Trp272Ter)
|
rs760059307
|
|
NM_005373.3(MPL):c.823C>A (p.Pro275Thr)
|
rs28928908
|
|
NM_005373.3(MPL):c.844G>A (p.Gly282Arg)
|
rs878854770
|
|
NM_005373.3(MPL):c.862_864delinsT (p.Gly288fs)
|
|
|
NM_005373.3(MPL):c.972del (p.Arg325fs)
|
rs770457041
|
|
NM_005373.3(MPL):c.973A>T (p.Arg325Ter)
|
|
|
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)
|
rs1647056598
|
|
NM_005373.3(MPL):c.98C>A (p.Ser33Ter)
|
rs1228227826
|
|
NM_005373.3(MPL):c.992G>A (p.Trp331Ter)
|
|
|