| 基因名 | 突变 |
|---|---|
| DEFB128(NM_001037732,defensin, beta 128,93aa) | g.20:168728T>A,c.81A>T,p.K27N |
| DEFB128(NM_001037732,defensin, beta 128,93aa) | g.20:168694C>T,c.115G>A,p.G39R |
| DEFB128(NM_001037732,defensin, beta 128,93aa) | g.20:168625_168626insT,c.183_184insA,p.61fs |
| DEFB128(NM_001037732,defensin, beta 128,93aa) | g.20:168558A>G,c.251T>C,p.I84T |
| DEFB128(NM_001037732,defensin, beta 128,93aa) | g.20:168546A>G,c.263T>C,p.I88T |
| DEFB127(NM_139074,defensin, beta 127,99aa) | g.20:139576C>A,c.211C>A,p.R71S |
| DEFB127(NM_139074,defensin, beta 127,99aa) | g.20:139538A>G,c.173A>G,p.K58R |
| DEFB127(NM_139074,defensin, beta 127,99aa) | g.20:139456G>A,c.91G>A,p.G31R |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126311_126312del,c.314_315del,p.105fs |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126310_126311del,c.313_314del,p.105fs |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126259G>A,c.262G>A,p.A88T |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126224A>G,c.227A>G,p.K76R |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126161A>G,c.164A>G,p.Q55R |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126156_126159del,c.159_162del,p.53fs |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126154G>A,c.157G>A,p.G53S |
| DEFB126(NM_030931,defensin, beta 126,111aa) | g.20:126149T>C,c.152T>C,p.M51T |
| DEFB125(NM_153325,defensin, beta 125,156aa) | g.20:76771C>T,c.184C>T,p.H62Y |
| DEFB125(NM_153325,defensin, beta 125,156aa) | g.20:76700G>A,c.113G>A,p.R38Q |
| DEFB125(NM_153325,defensin, beta 125,156aa) | g.20:68396C>T,c.46C>T,p.R16W |
| DEFB125(NM_153325,defensin, beta 125,156aa) | g.20:68363A>T,c.13A>T,p.M5L |
| DEFB124(NM_001037500,defensin, beta 124,71aa) | g.20:30053379G>A,c.146C>T,p.P49L |
| DEFB124(NM_001037500,defensin, beta 124,71aa) | g.20:30053334G>A,c.191C>T,p.P64L |
| DEFB124(NM_001037500,defensin, beta 124,71aa) | g.20:30053322T>G,c.203A>C,p.H68P |
| DEFB118(NM_054112,defensin, beta 118,123aa) | g.20:29960936C>G,c.335C>G,p.T112S |
| DEFB118(NM_054112,defensin, beta 118,123aa) | g.20:29960767A>G,c.166A>G,p.I56V |
| DEFB118(NM_054112,defensin, beta 118,123aa) | g.20:29960720A>G,c.119A>G,p.D40G |
| DEFB118(NM_054112,defensin, beta 118,123aa) | g.20:29960701T>C,c.100T>C,p.C34R |
| DEFB116(NM_001037731,defensin, beta 116,102aa) | g.20:29896333T>A,c.56A>T,p.Q19L |