Table 1.
Somatic mutations detected in donors that were predicted to be pathogenic according to CADD.
| Gene | Type | Amino acid change | CADD | COSMIC | Engrafted |
|---|---|---|---|---|---|
| COL12A1 | Missense | p.I530L | 22.1 | COSM271996 | Yes |
| CREBBP | Missense | p.T1242I | 25.5 | – | Yes |
| DNMT3A | Nonsense | p.W288X | 40 | C0SM1130818 | Yes |
| DNMT3A | Missense | p.R174S | 26.5 | – | Yes |
| DNMT3A | Missense | p.G398R | 30 | C0SM256035* | Yes |
| DNMT3A | Missense | p.I158M | 23.6 | – | Yes |
| DNMT3A | Missense | p.Q222P | 26.1 | – | Yes |
| DNMT3A | Missense | p.H669P | 23.3 | – | Yes |
| FAT1 | Missense | p.D1554N | 25.8 | COSM1429043 | Yes |
| SRCAP | Indel | T:TGCTTCGCC | 29 | – | Yes |
| STAG2 | Missense | p.Y188D | 26.3 | – | Yes |
| TET2 | Splicing | c.3954 + 1G > A | 34 | C0SM87141* | Yes |
| TET2 | Missense | p.Y1345C | 32 | – | Yes |
| TP53 | Missense | p.R150W | 25.7 | COSM99925* | Yes |
| USP34 | Missense | p.H1874R | 22.5 | – | Yes |
| WT1 | Missense | p.R74W | 28.7 | – | Yes |
(*)
Six mutations were found to be associated with various malignancies, and three were specifically associated with hematologic malignancies.