| 基因名 | 突变 |
|---|---|
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:74011499G>A,c.1066G>A,p.V356M |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:73992881A>G,c.619A>G,p.I207V |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:73985215A>G,c.362A>G,p.K121R |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:73981299C>T,c.214C>T,p.L72F |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:73981294T>C,c.209T>C,p.L70P |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:73981270T>C,c.185T>C,p.L62S |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72668180T>G,c.134A>C,p.Q45P |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72645431A>T,c.548T>A,p.L183H |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72642925G>A,c.739C>T,p.R247W |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72642919G>A,c.745C>T,p.R249W |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72642859C>T,c.805G>A,p.G269S |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72641570G>C,c.836C>G,p.S279C |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72639003T>C,c.1195A>G,p.N399D |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72638892T>C,c.1306A>G,p.I436V |
| HEXA(NM_000520,hexosaminidase A (alpha polypeptide),529aa) | g.15:72637878C>T,c.1435G>A,p.A479T |
| HESX1(NM_003865,HESX homeobox 1,185aa) | g.3:57232938C>G,c.200G>C,p.S67T |
| HESX1(NM_003865,HESX homeobox 1,185aa) | g.3:57232884G>A,c.254C>T,p.S85L |
| HESX1(NM_003865,HESX homeobox 1,185aa) | g.3:57232504T>C,c.374A>G,p.N125S |
| HES6(NM_018645,hairy and enhancer of split 6 (Drosophila),224aa) | g.2:239147490C>T,c.653G>A,p.R218Q |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:935264G>C,c.90C>G,p.S30R |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:935222C>A,c.132G>T,p.R44S |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:935085G>A,c.269C>T,p.A90V |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:935080T>C,c.274A>G,p.R92G |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:935071C>T,c.282+1G>A,p.94Donor |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:934801C>T,c.382G>A,p.A128T |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:934774G>T,c.409C>A,p.R137S |
| HES4(NM_001142467,hairy and enhancer of split 4 (Drosophila),247aa) | g.1:934770G>A,c.413C>T,p.A138V |
| HES3(NM_001024598,hairy and enhancer of split 3 (Drosophila),186aa) | g.1:6305292C>A,c.286C>A,p.P96T |