| 基因名 | 突变 |
|---|---|
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123508955C>T,c.628C>T,p.R210X |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123508775C>T,c.448C>T,p.R150X |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123508623C>T,c.296C>T,p.P99L |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123508575G>A,c.248G>A,p.R83K |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123508328A>G,c.1A>G,p.M1V |
| HYAL3(NM_003549,hyaluronoglucosaminidase 3,417aa) | g.3:50332697G>A,c.337C>T,p.H113Y |
| HYAL3(NM_003549,hyaluronoglucosaminidase 3,417aa) | g.3:50332612C>T,c.422G>A,p.R141H |
| HYAL3(NM_003549,hyaluronoglucosaminidase 3,417aa) | g.3:50332501C>T,c.533G>A,p.R178H |
| HYAL3(NM_003549,hyaluronoglucosaminidase 3,417aa) | g.3:50330890G>C,c.1041C>G,p.I347M |
| HYAL3(NM_003549,hyaluronoglucosaminidase 3,417aa) | g.3:50330721G>A,c.1210C>T,p.P404S |
| HYAL2(NM_033158,hyaluronoglucosaminidase 2,473aa) | g.3:50357869A>C,c.52T>G,p.S18A |
| HYAL2(NM_033158,hyaluronoglucosaminidase 2,473aa) | g.3:50355730T>G,c.1252A>C,p.I418L |
| HYAL2(NM_033158,hyaluronoglucosaminidase 2,473aa) | g.3:50355631C>T,c.1351G>A,p.E451K |
| HYAL1(NM_153281,hyaluronoglucosaminidase 1,435aa) | g.3:50339643G>A,c.745C>T,p.P249S |
| HYAL1(NM_153281,hyaluronoglucosaminidase 1,435aa) | g.3:50339640C>T,c.748G>A,p.A250T |
| HYAL1(NM_153281,hyaluronoglucosaminidase 1,435aa) | g.3:50339622C>T,c.766G>A,p.G256R |
| HYAL1(NM_153281,hyaluronoglucosaminidase 1,435aa) | g.3:50338047G>A,c.1175C>T,p.T392M |
| HYAL1(NM_153281,hyaluronoglucosaminidase 1,435aa) | g.3:50338021G>A,c.1201C>T,p.R401W |
| HYAL1(NM_153281,hyaluronoglucosaminidase 1,435aa) | g.3:50338012del,c.1210del,p.404fs |
| HVCN1(NM_001040107,hydrogen voltage-gated channel 1,273aa) | g.12:111089139C>T,c.526G>A,p.V176I |
| HVCN1(NM_001040107,hydrogen voltage-gated channel 1,273aa) | g.12:111089106C>T,c.559G>A,p.V187I |
| HVCN1(NM_001040107,hydrogen voltage-gated channel 1,273aa) | g.12:111088061C>T,c.668G>A,p.R223H |
| HVCN1(NM_001040107,hydrogen voltage-gated channel 1,273aa) | g.12:111087246C>T,c.791G>A,p.R264Q |
| HUWE1(NM_031407,HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase,4374aa) | g.X:53654402T>C,c.1448A>G,p.N483S |
| HUWE1(NM_031407,HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase,4374aa) | g.X:53641627G>C,c.2129C>G,p.T710S |
| HUWE1(NM_031407,HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase,4374aa) | g.X:53574763T>A,c.10507A>T,p.T3503S |
| HUWE1(NM_031407,HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase,4374aa) | g.X:53565972C>T,c.11702G>A,p.R3901Q |
| HUS1(NM_004507,HUS1 checkpoint homolog (S. pombe),280aa) | g.7:48019089C>A,c.28G>T,p.G10W |