NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)
|
rs1569061762
|
0.00001
|
NM_005373.3(MPL):c.263G>A (p.Gly88Glu)
|
rs587778516
|
0.00001
|
NM_005476.7(GNE):c.466T>C (p.Tyr156His)
|
rs794727505
|
0.00001
|
NC_000021.8:g.35304341_36865875del
|
|
|
NC_000021.8:g.35304355_36865958del
|
|
|
NC_000021.8:g.36318516_37184936del
|
|
|
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)
|
rs1597638598
|
|
NM_000173.7(GP1BA):c.407T>C (p.Leu136Pro)
|
rs1597638681
|
|
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser)
|
rs1597638745
|
|
NM_000173.7(GP1BA):c.470dup (p.Gly158fs)
|
rs1597638753
|
|
NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser)
|
rs1597639057
|
|
NM_000173.7(GP1BA):c.763A>G (p.Met255Val)
|
rs121908064
|
|
NM_000377.3(WAS):c.1416_1424del (p.His472_Met474del)
|
|
|
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)
|
rs121909752
|
|
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del)
|
rs1601248578
|
|
NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln)
|
rs1601248859
|
|
NM_000407.5(GP1BB):c.448del (p.Ala150fs)
|
rs1360071443
|
|
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)
|
rs1601248210
|
|
NM_000460.4(THPO):c.91C>T (p.Arg31Ter)
|
|
|
NM_000552.5(VWF):c.7090A>T (p.Lys2364Ter)
|
|
|
NM_001130004.2(ACTN1):c.1592A>T (p.Asp531Val)
|
rs1594758046
|
|
NM_001130004.2(ACTN1):c.1592_1593insGGGGCCATGGAG (p.Asp531delinsGluGlyProTrpSer)
|
rs1594758038
|
|
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)
|
rs1594773549
|
|
NM_001754.5(RUNX1):c.1164del (p.Ser389fs)
|
rs1601333051
|
|
NM_001754.5(RUNX1):c.320G>A (p.Arg107His)
|
rs1569084106
|
|
NM_001754.5(RUNX1):c.508+1G>A
|
rs1601515718
|
|
NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn)
|
rs1601470652
|
|
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)
|
rs1569061786
|
|
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)
|
rs1569061768
|
|
NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter)
|
rs121912499
|
|
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter)
|
rs1569008655
|
|
NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp)
|
rs1591749480
|
|
NM_001987.5(ETV6):c.1201T>C (p.Tyr401His)
|
rs1591750551
|
|
NM_002017.5(FLI1):c.992_995del (p.Asn331fs)
|
rs1064797085
|
|
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)
|
rs587776456
|
|
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)
|
rs104894816
|
|
NM_004991.4(MECOM):c.1678C>T (p.Gln560Ter)
|
rs1577005203
|
|
NM_005476.7(GNE):c.1457T>C (p.Leu486Pro)
|
rs774867424
|
|
NM_014915.3(ANKRD26):c.-116C>G
|
rs1589393739
|
|
NM_014915.3(ANKRD26):c.-118C>A
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-118C>G
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-118C>T
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-119C>G
|
rs1554800065
|
|
NM_014915.3(ANKRD26):c.-127A>T
|
rs1589393799
|
|
NM_014915.3(ANKRD26):c.-128G>C
|
rs1589393809
|
|
NM_014915.3(ANKRD26):c.-128G>T
|
rs1589393809
|
|
NM_014915.3(ANKRD26):c.-134G>A
|
rs863223318
|
|
NM_018947.6(CYCS):c.124G>A (p.Gly42Ser)
|
rs121918552
|
|
NM_018947.6(CYCS):c.295C>G (p.Leu99Val)
|
rs1583394629
|
|
NM_020207.7(ERCC6L2):c.2474_2484delinsAAAG (p.Thr825fs)
|
rs2133079257
|
|
NM_030773.4(TUBB1):c.945C>A (p.Cys315Ter)
|
rs1601239459
|
|
Single allele
|
|
|