Table 1. Allele frequencies of pathogenic STAT5B variants in the present study and in public databases.
| Database | Allele variant | Allele frequency (%) | Total alleles | p |
|---|---|---|---|---|
| Present study | 17:40375522 TGGAG/T; p. Leu142Argfs*19 | 0.29 | 2,410 | |
| ESP | 17:40370236:C/T; p. Gln368* | 0.008 | 13,006 | < 0.0001 |
| ExAC | 17:40384025 G/A; p. Gln41* | 0.001 | 121,406 | < 0.0001 |
| 17:40370235:T/TG; p. Gln368Profs*9 | 0.08 | 118,824 | 0.001 | |
| 17:40370235 TG/T; p. Gln368Argfs*2 | 0.03 | 118,824 | < 0.0001 | |
| 17:40379567 G/GC; p. His89Alafs*11 | 0.001 | 121,240 | < 0.0001 |
ESP: NHLBI-GO Exome Sequencing Project; ExAC: Exome Aggregation Consortium.