Table 2.
Sequence location | Effect | cDNA | Patient ID (diagnosis) | |
---|---|---|---|---|
p.P177fs | Exon 3 | Frameshift | c.530delC | P39 (MPN-U) |
p.P411del | Exon 3 | Deletion | c.1232_1234delCCT | P98 (TE) |
p.C1298del | Exon 7 | Deletion | c.3890_3892delGAT | P42 (MPN-U) |
p.Q652fs* | Exon 3 | Frameshift | c.1954delC | P65 (MPN-U) |
p.R1572W* | Exon 11 | Missense | c.4714C>T | P23 (PV) |
p.V1718L* | Exon 11 | Missense | c.5152G>T | P21, P25 (TE, PV) |
*Novel mutations.