BTK, PLCG2, and BCL2 variants detected among 37 clinical samples
| Gene (RefSeq transcript) . | Nucleotide variant (HGVSc) . | Amino acid change (HGVSp) . | Total . |
|---|---|---|---|
| BTK (NM_000061.2) | c.1442G>C | p.(Cys481Ser) | 21 |
| c.1441T>A | p.(Cys481Ser) | 9 | |
| c.1583T>G | p.(Leu528Trp) | 6 | |
| c.1442G>T | p.(Cys481Phe) | 4 | |
| c.1442G>A | p.(Cys481Tyr) | 3 | |
| c.1421C>T | p.(Thr474Ile) | 2 | |
| c.1441T>C | p.(Cys481Arg) | 1 | |
| c.1442_1443delinsCT | p.(Cys481Ser) | 1 | |
| PLCG2 (NM_002661.3) | c.2120C>T | p.(Ser707Phe) | 2 |
| c.2120C>A | p.(Ser707Tyr) | 1 | |
| c.2977G>C | p.(Asp993His) | 1 | |
| BCL2 (NM_000633.2) | c.302G>T | p.(Gly101Val) | 12 |
| c.467T>A | p.(Val156Asp) | 8 | |
| c.319_330dup | p.(Arg107_Arg110dup) | 7 | |
| c.307G>T | p.(Asp103Tyr) | 6 | |
| c.309C>A | p.(Asp103Glu) | 5 | |
| c.338C>G | p.(Ala113Gly) | 4 | |
| c.308A>T | p.(Asp103Val) | 2 | |
| c.309C>G | p.(Asp103Glu) | 2 | |
| c.386G>T | p.(Arg129Leu) | 2 | |
| c.326_327insGCGCCGCTACCG | p.(Arg107_Arg110dup) | 1 | |
| c.302 303delinsTT | p.(Gly101Val) | 1 |
| Gene (RefSeq transcript) . | Nucleotide variant (HGVSc) . | Amino acid change (HGVSp) . | Total . |
|---|---|---|---|
| BTK (NM_000061.2) | c.1442G>C | p.(Cys481Ser) | 21 |
| c.1441T>A | p.(Cys481Ser) | 9 | |
| c.1583T>G | p.(Leu528Trp) | 6 | |
| c.1442G>T | p.(Cys481Phe) | 4 | |
| c.1442G>A | p.(Cys481Tyr) | 3 | |
| c.1421C>T | p.(Thr474Ile) | 2 | |
| c.1441T>C | p.(Cys481Arg) | 1 | |
| c.1442_1443delinsCT | p.(Cys481Ser) | 1 | |
| PLCG2 (NM_002661.3) | c.2120C>T | p.(Ser707Phe) | 2 |
| c.2120C>A | p.(Ser707Tyr) | 1 | |
| c.2977G>C | p.(Asp993His) | 1 | |
| BCL2 (NM_000633.2) | c.302G>T | p.(Gly101Val) | 12 |
| c.467T>A | p.(Val156Asp) | 8 | |
| c.319_330dup | p.(Arg107_Arg110dup) | 7 | |
| c.307G>T | p.(Asp103Tyr) | 6 | |
| c.309C>A | p.(Asp103Glu) | 5 | |
| c.338C>G | p.(Ala113Gly) | 4 | |
| c.308A>T | p.(Asp103Val) | 2 | |
| c.309C>G | p.(Asp103Glu) | 2 | |
| c.386G>T | p.(Arg129Leu) | 2 | |
| c.326_327insGCGCCGCTACCG | p.(Arg107_Arg110dup) | 1 | |
| c.302 303delinsTT | p.(Gly101Val) | 1 |