| 基因名 | 突变 |
|---|---|
| DEFB116(NM_001037731,defensin, beta 116,102aa) | g.20:29891242A>T,c.82T>A,p.S28T |
| DEFB116(NM_001037731,defensin, beta 116,102aa) | g.20:29891200G>C,c.124C>G,p.L42V |
| DEFB116(NM_001037731,defensin, beta 116,102aa) | g.20:29891068C>T,c.256G>A,p.D86N |
| DEFB112(NM_001037498,defensin, beta 112,113aa) | g.6:50016345A>G,c.20T>C,p.I7T |
| DEFB112(NM_001037498,defensin, beta 112,113aa) | g.6:50011361G>A,c.269C>T,p.T90M |
| DEFB112(NM_001037498,defensin, beta 112,113aa) | g.6:50011307G>A,c.323C>T,p.P108L |
| DEFB110(NM_001037497,defensin, beta 110 locus,67aa) | g.6:49989597G>A,c.52C>T,p.P18S |
| DEFB110(NM_001037497,defensin, beta 110 locus,67aa) | g.6:49986840T>C,c.56-2A>G,p.19Acceptor |
| DEFB108B(NM_001002035,defensin, beta 108B,73aa) | g.11:71548544A>G,c.158A>G,p.Q53R |
| DEFB108B(NM_001002035,defensin, beta 108B,73aa) | g.11:71548520A>T,c.134A>T,p.H45L |
| DEFB108B(NM_001002035,defensin, beta 108B,73aa) | g.11:71548492C>T,c.106C>T,p.R36W |
| DEFB108B(NM_001002035,defensin, beta 108B,73aa) | g.11:71548465A>G,c.79A>G,p.I27V |
| DEFB107B(NM_001040705,defensin, beta 107B,70aa) | g.8:7673126C>A,c.25G>T,p.V9F |
| DEFB104A(NM_080389,defensin, beta 104A,72aa) | g.8:7694034A>G,c.28A>G,p.I10V |
| DEFA6(NM_001926,defensin, alpha 6, Paneth cell-specific,100aa) | g.8:6783553C>T,c.5G>A,p.R2K |
| DEFA6(NM_001926,defensin, alpha 6, Paneth cell-specific,100aa) | g.8:6783479C>T,c.79G>A,p.D27N |
| DEFA6(NM_001926,defensin, alpha 6, Paneth cell-specific,100aa) | g.8:6783453C>G,c.105G>C,p.E35D |
| DEFA6(NM_001926,defensin, alpha 6, Paneth cell-specific,100aa) | g.8:6783437G>A,c.121C>T,p.Q41X |
| DEFA5(NM_021010,defensin, alpha 5, Paneth cell-specific,94aa) | g.8:6914204T>C,c.16A>G,p.I6V |
| DEFA5(NM_021010,defensin, alpha 5, Paneth cell-specific,94aa) | g.8:6914132T>G,c.88A>C,p.T30P |
| DEFA5(NM_021010,defensin, alpha 5, Paneth cell-specific,94aa) | g.8:6914086G>C,c.134C>G,p.S45C |
| DEFA5(NM_021010,defensin, alpha 5, Paneth cell-specific,94aa) | g.8:6913026C>T,c.212G>A,p.R71H |
| DEFA5(NM_021010,defensin, alpha 5, Paneth cell-specific,94aa) | g.8:6913014C>T,c.224G>A,p.R75H |
| DEFA4(NM_001925,defensin, alpha 4, corticostatin,97aa) | g.8:6794400C>G,c.22G>C,p.A8P |
| DEFA4(NM_001925,defensin, alpha 4, corticostatin,97aa) | g.8:6794399G>A,c.23C>T,p.A8V |
| DEFA4(NM_001925,defensin, alpha 4, corticostatin,97aa) | g.8:6794372A>G,c.50T>C,p.V17A |
| DEFA4(NM_001925,defensin, alpha 4, corticostatin,97aa) | g.8:6794366G>T,c.56C>A,p.A19E |
| DEFA4(NM_001925,defensin, alpha 4, corticostatin,97aa) | g.8:6794249C>A,c.172+1G>T,p.58Donor |