| Genename | Variants |
|---|---|
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91308570C>T,c.2119C>T,p.P707S |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91306241G>A,c.1928G>A,p.R643H |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91306240C>T,c.1927C>T,p.R643C |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91304138_91304139insA,c.1535_1536insA,p.512fs |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91298135G>A,c.1054G>A,p.E352K |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91298125G>A,c.1044G>A,p.M348I |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91295110C>T,c.893C>T,p.T298M |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91293075del,c.577del,p.193fs |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91292908A>G,c.410A>G,p.K137R |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91292676T>A,c.178T>A,p.L60I |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91290633T>C,c.11T>C,p.V4A |
| BLMH(NM_000386,bleomycin hydrolase,455aa) | g.17:28598294C>T,c.1141G>A,p.E381K |
| BLMH(NM_000386,bleomycin hydrolase,455aa) | g.17:28576106C>T,c.1297G>A,p.V433M |
| BLMH(NM_000386,bleomycin hydrolase,455aa) | g.17:28576076T>C,c.1327A>G,p.I443V |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11421465C>T,c.1366C>T,p.R456C |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11421448G>A,c.1349G>A,p.R450H |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11418856C>T,c.1075C>T,p.R359C |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11415498A>T,c.980A>T,p.D327V |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11415492A>C,c.974A>C,p.K325T |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11414184A>G,c.790A>G,p.M264V |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11412934G>A,c.713G>A,p.R238Q |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11412895C>T,c.674C>T,p.P225L |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11412318G>A,c.539G>A,p.R180H |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11405588C>G,c.223C>G,p.R75G |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11405576G>A,c.211G>A,p.A71T |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11403580C>T,c.143C>T,p.T48I |
| BLK(NM_001715,B lymphoid tyrosine kinase,505aa) | g.8:11400849C>T,c.116C>T,p.P39L |
| BLID(NM_001001786,BH3-like motif containing, cell death inducer,108aa) | g.11:121986611A>C,c.20T>G,p.I7R |