sample | genename | Achange | Exonicfuction | |
---|---|---|---|---|
case1 | FCGR3A | missense | p.L66R | |
case1 | STK36 | missense | p.R1112Q | |
case1 | TNK2 | missense | p.R877H | |
case1 | DAXX | missense | p.A486G | |
case1 | EZR | missense | p.N6S | |
case1 | HIF1A | missense | p.A588T | |
case1 | SEPT9 | missense | p.P127L | |
case1 | SLC45A3 | nonframeshift deletion | p.222_234del | |
case1 | MAGI1 | nonframeshift insertion | p.T422delinsQT | |
case1 | EP400 | nonframeshift deletion | p.2728_2728del | |
case2 | PDE4DIP | missense | p.A272T | |
case2 | PAX8 | missense | p.P263L | |
case2 | MLH1 | missense | p.R217C | |
case2 | SDHA | missense | p.A5333V | |
case2 | MET | missense | p.N375S | |
case2 | TET1 | missense | p.S487 L | |
case2 | BRCA2 | missense | p.I3412V | |
case2 | ASXL1 | missense | p.G652S | |
case2 | MAGI1 | nonframeshift insertion | p.T422delinsQT | |
case3 | PMS1 | missense | p.R883H | |
case3 | UGT1A3 | missense | p.R45W | |
case3 | UGT1A5,UGT1A8,UGT1A10,UGT1A6,UGT1A7,UGT1A3,UGT1A1,UGT1A9,UGT1A4 | missense | p.P364L | |
case3 | XPC | missense | p.L48F | |
case3 | ITK | missense | p.L582 M | |
case3 | NOTCH4 | missense | p.G534S | |
case3 | IGF2R | missense | p.N2348S | |
case3 | AKAP9 | missense | p.R3712Q | |
case3 | EPHB4 | missense | p.A371V | |
case3 | RET | missense | p.T278 N | |
case3 | KAT6B | missense | p.V1499I | |
case3 | NUMA1 | missense | p.L344 V | |
case3 | ADAMTS20 | missense | p.S1273F | |
case3 | ADAMTS20 | missense | p.R1000H | |
case3 | YES1 | missense | p.I198V | |
case3 | BCR | missense | p.D1106N | |
case3 | SLC45A3 | nonframeshift deletion | p.222_234del | |
case3 | BCR | frameshift insertion | p.S1092 fs |