| 基因名 | 突变 |
|---|---|
| SHISA6(NM_207386,shisa family member 6,551aa) | g.17:11461133G>A,c.1168G>A,p.G390S |
| SHISA6(NM_207386,shisa family member 6,551aa) | g.17:11459147C>T,c.1043C>T,p.P348L |
| SHISA6(NM_207386,shisa family member 6,551aa) | g.17:11166786G>A,c.742G>A,p.V248I |
| SHISA6(NM_207386,shisa family member 6,551aa) | g.17:11166718_11166719insC,c.674_675insC,p.225fs |
| SHISA5(NM_001272068,shisa family member 5,209aa) | g.3:48520655C>A,c.152G>T,p.S51I |
| SHISA5(NM_001272068,shisa family member 5,209aa) | g.3:48520628G>T,c.179C>A,p.S60X |
| SHISA5(NM_001272068,shisa family member 5,209aa) | g.3:48511193C>T,c.271G>A,p.V91I |
| SHISA5(NM_001272068,shisa family member 5,209aa) | g.3:48511133G>A,c.331C>T,p.P111S |
| SHISA5(NM_001272068,shisa family member 5,209aa) | g.3:48510906G>A,c.404C>T,p.P135L |
| SHISA5(NM_001272068,shisa family member 5,209aa) | g.3:48510583C>T,c.553G>A,p.G185R |
| SHISA5(NM_001272068,shisa family member 5,209aa) | g.3:48510522G>A,c.614C>T,p.P205L |
| SHISA4(NM_198149,shisa family member 4,197aa) | g.1:201860679C>T,c.530C>T,p.P177L |
| SHISA4(NM_198149,shisa family member 4,197aa) | g.1:201860626A>G,c.477A>G,p.I159M |
| SHISA4(NM_198149,shisa family member 4,197aa) | g.1:201860535A>C,c.386A>C,p.E129A |
| SHISA3(NM_001080505,shisa family member 3,238aa) | g.4:42403458G>T,c.707G>T,p.S236I |
| SHISA3(NM_001080505,shisa family member 3,238aa) | g.4:42403395A>G,c.644A>G,p.Q215R |
| SHISA3(NM_001080505,shisa family member 3,238aa) | g.4:42403128C>T,c.377C>T,p.P126L |
| SHISA3(NM_001080505,shisa family member 3,238aa) | g.4:42400112G>T,c.39G>T,p.W13C |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26624935C>T,c.179G>A,p.G60D |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26621193C>T,c.346G>A,p.V116M |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26621108C>T,c.431G>A,p.R144Q |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26621081C>T,c.458G>A,p.R153Q |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26621018C>T,c.521G>A,p.R174Q |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26621004G>A,c.535C>T,p.R179C |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26620961G>A,c.578C>T,p.S193L |
| SHISA2(NM_001007538,shisa family member 2,295aa) | g.13:26620737C>T,c.802G>A,p.G268S |
| SHH(NM_000193,sonic hedgehog,462aa) | g.7:155596114C>T,c.869G>A,p.G290D |
| SHF(NM_138356,Src homology 2 domain containing F,423aa) | g.15:45491270C>T,c.3G>A,p.M1I |