|
NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
|
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro)
|
rs771048666
|
0.00013
|
|
NM_001025356.3(ANO6):c.1387-1G>T
|
rs374664255
|
0.00011
|
|
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
|
rs121913611
|
0.00011
|
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
|
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)
|
rs148434485
|
0.00004
|
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
|
NM_000174.5(GP9):c.212T>C (p.Phe71Ser)
|
rs121918037
|
0.00001
|
|
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)
|
rs121918446
|
0.00001
|
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
|
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)
|
rs751975712
|
0.00001
|
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
|
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)
|
rs1191857860
|
0.00001
|
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
|
NC_000001.10:g.(43814674_43814933)_(43815031_43817886)del
|
|
|
|
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
|
|
|
|
NC_000010.10:g.(?_75670858)_(75677260_?)dup
|
|
|
|
NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg)
|
rs781541857
|
|
|
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val)
|
rs121908065
|
|
|
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
|
rs28933378
|
|
|
NM_000174.5(GP9):c.8_11dup (p.Trp4fs)
|
|
|
|
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)
|
|
|
|
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
|
rs132630273
|
|
|
NM_000377.3(WAS):c.413G>C (p.Arg138Pro)
|
rs139265251
|
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
|
NM_000419.5(ITGA2B):c.1946+3G>T
|
|
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
|
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)
|
rs2140067871
|
|
|
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)
|
rs797044916
|
|
|
NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys)
|
rs724159945
|
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
|
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)
|
rs727503284
|
|
|
NM_005373.3(MPL):c.1145del (p.Pro382fs)
|
|
|
|
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
|
rs1292577132
|
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
|
NM_005373.3(MPL):c.1653+2T>C
|
|
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
|
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
|
rs763144679
|
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
|
NM_005373.3(MPL):c.378del (p.Phe126fs)
|
rs587778515
|
|
|
NM_005373.3(MPL):c.556C>T (p.Gln186Ter)
|
rs121913610
|
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
|
NM_014915.3(ANKRD26):c.-127A>T
|
rs1589393799
|
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
|
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
|
|
|