Mutations (percentage of mutation) in TMD and AMKL of patient 4
| Gene (mutation) . | TMD . | AMKL . |
|---|---|---|
| GATA1 (p.67ins_20nt) | + (12) | — |
| PIK3C2A (p.R1461×) | + (12) | — |
| GATA1 (p.71_74del_12nt) | + (8) | + (20) |
| EZH2 (p.D730_Y731ins_1nt) | — | + (18) |
| DHX29 (p.E178K) | — | + (25) |
| SMC3 (p.G1118R) | — | + (23) |
| SLC6A5 (p.L488L) | — | + (26) |
| PIEZO1 (p.T2127M) | — | + (20) |
| FCER1G (exon2:c.141+5C>A) | — | + (21) |
| CAPN11 (p.R687K) | — | + (28) |
| Gene (mutation) . | TMD . | AMKL . |
|---|---|---|
| GATA1 (p.67ins_20nt) | + (12) | — |
| PIK3C2A (p.R1461×) | + (12) | — |
| GATA1 (p.71_74del_12nt) | + (8) | + (20) |
| EZH2 (p.D730_Y731ins_1nt) | — | + (18) |
| DHX29 (p.E178K) | — | + (25) |
| SMC3 (p.G1118R) | — | + (23) |
| SLC6A5 (p.L488L) | — | + (26) |
| PIEZO1 (p.T2127M) | — | + (20) |
| FCER1G (exon2:c.141+5C>A) | — | + (21) |
| CAPN11 (p.R687K) | — | + (28) |
Percentage of mutation calculated based on the Sanger sequencing data.