Table 3

List of CBL sequence variants

Patient identifierDiagnosisExon 8 ampliconExon 9 amplicon
UPN 1 aCML c.1127C>T: S376F 
UPN 2 aCML c.1139T>C: L380P 
UPN 3 aCML c.1249C>G: P417A 
UPN 4 aCML c.1259G>A: R420Q 
UPN 5 aCML c.1139T>C: L380P 
UPN 6 aCML int+5 G>A 
UPN 7 aCML c.1224G>C: W408C 
UPN 8 aCML c.1254C>A: F418L 
UPN 9 aCML c.1111T>C: Y371H c.1384C>T R462X 
UPN 10 aCML c.1249C>G: P417A 
UPN 11 aCML c.1259G>T: R420L 
UPN 12 aCML c.1259G>A R420Q 
UPN 13 CEL int-2 A>G 
UPN 14 MF c.1139T>C: L380P 
UPN 15 MF c.1259G>A: R420Q 
UPN 16 MF c.1259G>A: R420Q 
UPN 17 CMML c.1142G>A: C381Y 
UPN 18 CMML c.1227–1227+4 del ggtac 
UPN 19 CMML int+4 C>T 
UPN 20 CMML int-1 G>C 
UPN 21 CMML c.1186T>G: C396G 
UPN 22 CMML c.1250C>T P417L 
UPN 23 CMML c.1151G>A: C384Y 
UPN 24 CMML c.1360A>G: N454D 
UPN 25 CMML c.1150T>C: C384R 
UPN 26 CMML c.1192C>T: H398Y 
Patient identifierDiagnosisExon 8 ampliconExon 9 amplicon
UPN 1 aCML c.1127C>T: S376F 
UPN 2 aCML c.1139T>C: L380P 
UPN 3 aCML c.1249C>G: P417A 
UPN 4 aCML c.1259G>A: R420Q 
UPN 5 aCML c.1139T>C: L380P 
UPN 6 aCML int+5 G>A 
UPN 7 aCML c.1224G>C: W408C 
UPN 8 aCML c.1254C>A: F418L 
UPN 9 aCML c.1111T>C: Y371H c.1384C>T R462X 
UPN 10 aCML c.1249C>G: P417A 
UPN 11 aCML c.1259G>T: R420L 
UPN 12 aCML c.1259G>A R420Q 
UPN 13 CEL int-2 A>G 
UPN 14 MF c.1139T>C: L380P 
UPN 15 MF c.1259G>A: R420Q 
UPN 16 MF c.1259G>A: R420Q 
UPN 17 CMML c.1142G>A: C381Y 
UPN 18 CMML c.1227–1227+4 del ggtac 
UPN 19 CMML int+4 C>T 
UPN 20 CMML int-1 G>C 
UPN 21 CMML c.1186T>G: C396G 
UPN 22 CMML c.1250C>T P417L 
UPN 23 CMML c.1151G>A: C384Y 
UPN 24 CMML c.1360A>G: N454D 
UPN 25 CMML c.1150T>C: C384R 
UPN 26 CMML c.1192C>T: H398Y 

UPN indicates unique patient number; aCML, atypical chronic myeloid leukemia; CEL, chronic eosinophilic leukemia; MF, myelofibrosis; CMML, chronic myelomonocytic leukemia; and N, normal.

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