| 基因名 | 突变 |
|---|---|
| HEYL(NM_014571,hairy/enhancer-of-split related with YRPW motif-like,328aa) | g.1:40092227C>T,c.939G>A,p.M313I |
| HEY2(NM_012259,hairy/enhancer-of-split related with YRPW motif 2,337aa) | g.6:126080616A>G,c.682A>G,p.T228A |
| HEY2(NM_012259,hairy/enhancer-of-split related with YRPW motif 2,337aa) | g.6:126080352G>A,c.418G>A,p.V140M |
| HEY2(NM_012259,hairy/enhancer-of-split related with YRPW motif 2,337aa) | g.6:126075690A>G,c.326A>G,p.K109R |
| HEY2(NM_012259,hairy/enhancer-of-split related with YRPW motif 2,337aa) | g.6:126075617G>A,c.253G>A,p.A85T |
| HEY1(NM_001040708,hairy/enhancer-of-split related with YRPW motif 1,308aa) | g.8:80679495T>C,c.124A>G,p.T42A |
| HEY1(NM_001040708,hairy/enhancer-of-split related with YRPW motif 1,308aa) | g.8:80677998C>T,c.352G>A,p.D118N |
| HEY1(NM_001040708,hairy/enhancer-of-split related with YRPW motif 1,308aa) | g.8:80677527A>G,c.823T>C,p.F275L |
| HEY1(NM_001040708,hairy/enhancer-of-split related with YRPW motif 1,308aa) | g.8:80677457T>C,c.893A>G,p.Y298C |
| HEXIM2(NM_144608,hexamethylene bis-acetamide inducible 2,286aa) | g.17:43246901A>G,c.586A>G,p.T196A |
| HEXIM2(NM_144608,hexamethylene bis-acetamide inducible 2,286aa) | g.17:43246888G>T,c.573G>T,p.K191N |
| HEXIM1(NM_006460,hexamethylene bis-acetamide inducible 1,359aa) | g.17:43226852G>A,c.295G>A,p.A99T |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80400349G>A,c.1639G>A,p.V547I |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80400262G>A,c.1552G>A,p.G518R |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80400214C>G,c.1504C>G,p.R502G |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80400098C>T,c.1388C>T,p.P463L |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80397532G>A,c.925G>A,p.E309K |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80395068G>A,c.728G>A,p.R243Q |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80395065G>A,c.725G>A,p.R242Q |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80395064C>T,c.724C>T,p.R242W |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80393680G>A,c.563G>A,p.R188Q |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80393652C>T,c.535C>T,p.R179W |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80391684A>G,c.433A>G,p.I145V |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80391670C>G,c.419C>G,p.A140G |
| HEXDC(NM_173620,hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing,585aa) | g.17:80391550C>T,c.299C>T,p.T100M |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:74016956G>A,c.1627G>A,p.A543T |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:74014629C>T,c.1250C>T,p.P417L |
| HEXB(NM_000521,hexosaminidase B (beta polypeptide),556aa) | g.5:74012414A>C,c.1085A>C,p.E362A |