HTS analysis of the TRA repertoire in SASH3-mutated patients. (A) Representative heat maps depicting Vα and Jα gene pairing in (left) unique and (right) total sequences of T cells from a healthy control, P1, and P3. The most upstream Vα and most downstream Jα gene segments at the TRA locus are shaded in light pink. (B) Shannon [H] entropy diversity index of unique T-cell reads. (C) Representation of the frequency of 1000 most represented clonotypes among all clonotypes in T cells from 3 controls, P1, and P3. (D) Percentage of (left) unique and (right) total clonotypes containing hydrophobic amino acid residues at positions 6 and 7 (P6 and P7) of the TRA-CDR3. Results are shown for 3 healthy controls (gray circles), P1 (red square), and P3 (red triangle). Bars represent mean values ± SD (B,D). *P < .05.