NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter)
|
rs139770726
|
|
NM_005373.3(MPL):c.1058del (p.His353fs)
|
|
|
NM_005373.3(MPL):c.1145_1146insAAGGATGTGAATAA (p.Pro382_Phe383insArgMetTer)
|
|
|
NM_005373.3(MPL):c.1270_1271del (p.Gln424fs)
|
|
|
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs)
|
|
|
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs)
|
|
|
NM_005373.3(MPL):c.155G>A (p.Trp52Ter)
|
|
|
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.280C>T (p.Gln94Ter)
|
rs1647010155
|
|
NM_005373.3(MPL):c.292C>T (p.Gln98Ter)
|
|
|
NM_005373.3(MPL):c.351_352insTGTCTCTTATA (p.Gln118fs)
|
|
|
NM_005373.3(MPL):c.365_366delinsT (p.Gln122fs)
|
|
|
NM_005373.3(MPL):c.398del (p.Pro133fs)
|
|
|
NM_005373.3(MPL):c.408_409del (p.Ser137fs)
|
|
|
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs)
|
|
|
NM_005373.3(MPL):c.461G>A (p.Trp154Ter)
|
rs1647014537
|
|
NM_005373.3(MPL):c.56del (p.Asn19fs)
|
|
|
NM_005373.3(MPL):c.579C>A (p.Cys193Ter)
|
|
|
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.758G>A (p.Trp253Ter)
|
rs1647019692
|
|
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.862_864delinsT (p.Gly288fs)
|
|
|
NM_005373.3(MPL):c.973A>T (p.Arg325Ter)
|
|
|
NM_005373.3(MPL):c.98C>A (p.Ser33Ter)
|
rs1228227826
|
|
NM_005373.3(MPL):c.992G>A (p.Trp331Ter)
|
|
|
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)
|
|
|
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter)
|
rs1829027066
|
|
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)
|
rs1828929851
|
|
NM_005476.7(GNE):c.1113_1114delinsT (p.Leu371fs)
|
|
|
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter)
|
rs1828921198
|
|
NM_005476.7(GNE):c.1222del (p.Ser408fs)
|
|
|
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter)
|
rs1828914261
|
|
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)
|
rs1828703342
|
|
NM_005476.7(GNE):c.1305del (p.Gln436fs)
|
|
|
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)
|
|
|
NM_005476.7(GNE):c.811G>T (p.Glu271Ter)
|
rs1829294478
|
|
NM_005476.7(GNE):c.926dup (p.Ala310fs)
|
|
|
NM_005476.7(GNE):c.934_937del (p.Gly312fs)
|
|
|
NM_005476.7(GNE):c.955G>T (p.Gly319Ter)
|
rs1829284405
|
|