NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)
|
rs3212723
|
0.02676
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
NM_000215.4(JAK3):c.1503G>T (p.Gln501His)
|
rs201283129
|
0.00002
|
NC_012920.1:m.14372C>A
|
rs1556424431
|
|
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)
|
rs121917830
|
|
NM_000215.4(JAK3):c.1503G>C (p.Gln501His)
|
rs201283129
|
|
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)
|
rs121913504
|
|
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln)
|
rs758959409
|
|
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr)
|
rs1057519770
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000546.6(TP53):c.636del (p.Arg213fs)
|
rs864309495
|
|
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)
|
rs864309497
|
|
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
|
rs751713049
|
|
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs)
|
rs864309498
|
|
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)
|
rs2062673859
|
|
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)
|
rs2062673949
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)
|
rs2062674122
|
|
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)
|
rs2062674253
|
|
NM_002049.4(GATA1):c.219A>G (p.Pro73=)
|
rs2062674480
|
|
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
|
rs1557020021
|
|
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)
|
rs1655079234
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs)
|
rs864309496
|
|
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)
|
rs758626942
|
|
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)
|
rs2052291685
|
|
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)
|
rs2052320698
|
|
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)
|
rs1293916143
|
|
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)
|
rs2043042281
|
|
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)
|
rs1909527513
|
|
NM_022904.3(RASAL3):c.-5C>G
|
rs76267899
|
|
NM_024535.5(CORO7):c.2772+50C>T
|
rs1555468179
|
|
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val)
|
rs864309493
|
|
inv(16)(p13.3q24.3)
|
|
|
t(11;12)(p15;p13)
|
|
|
t(11;17)(q23;q12-q21)
|
|
|
t(11;17)(q23;q25)
|
|
|
t(16;16)(p13.3;q24.3)
|
|
|