| 基因名 | 突变 |
|---|---|
| RB1CC1(NM_014781,RB1-inducible coiled-coil 1,1594aa) | g.8:53555273G>A,c.4087C>T,p.R1363W |
| RB1CC1(NM_014781,RB1-inducible coiled-coil 1,1594aa) | g.8:53555119G>A,c.4129C>T,p.R1377C |
| RB1CC1(NM_014781,RB1-inducible coiled-coil 1,1594aa) | g.8:53548616T>C,c.4351A>G,p.M1451V |
| RB1CC1(NM_014781,RB1-inducible coiled-coil 1,1594aa) | g.8:53543090_53543091insA,c.4441-2insT,p.1481Acceptorins |
| RB1CC1(NM_014781,RB1-inducible coiled-coil 1,1594aa) | g.8:53540622G>A,c.4606C>T,p.P1536S |
| RAX(NM_013435,retina and anterior neural fold homeobox,346aa) | g.18:56940307G>T,c.132C>A,p.D44E |
| RAX(NM_013435,retina and anterior neural fold homeobox,346aa) | g.18:56940291T>G,c.148A>C,p.T50P |
| RAX(NM_013435,retina and anterior neural fold homeobox,346aa) | g.18:56940269G>A,c.170C>T,p.A57V |
| RAX(NM_013435,retina and anterior neural fold homeobox,346aa) | g.18:56936667G>T,c.610C>A,p.L204M |
| RAX2(NM_032753,retina and anterior neural fold homeobox 2,184aa) | g.19:3771729G>C,c.12C>G,p.S4R |
| RAX2(NM_032753,retina and anterior neural fold homeobox 2,184aa) | g.19:3771649C>T,c.92G>A,p.R31H |
| RAX2(NM_032753,retina and anterior neural fold homeobox 2,184aa) | g.19:3771586G>A,c.155C>T,p.P52L |
| RAVER2(NM_018211,ribonucleoprotein, PTB-binding 2,678aa) | g.1:65278450G>C,c.1671G>C,p.L557F |
| RAVER2(NM_018211,ribonucleoprotein, PTB-binding 2,678aa) | g.1:65270704G>T,c.1288G>T,p.V430L |
| RAVER1(NM_133452,ribonucleoprotein, PTB-binding 1,756aa) | g.19:10444149G>T,c.86C>A,p.P29Q |
| RAVER1(NM_133452,ribonucleoprotein, PTB-binding 1,756aa) | g.19:10444074G>A,c.161C>T,p.P54L |
| RAVER1(NM_133452,ribonucleoprotein, PTB-binding 1,756aa) | g.19:10431828G>T,c.1420C>A,p.P474T |
| RAVER1(NM_133452,ribonucleoprotein, PTB-binding 1,756aa) | g.19:10431541G>C,c.1611C>G,p.N537K |
| RAVER1(NM_133452,ribonucleoprotein, PTB-binding 1,756aa) | g.19:10431344A>G,c.1808T>C,p.F603S |
| RASSF9(NM_005447,Ras association (RalGDS/AF-6) domain family (N-terminal) member 9,435aa) | g.12:86199358T>C,c.430A>G,p.S144G |
| RASSF9(NM_005447,Ras association (RalGDS/AF-6) domain family (N-terminal) member 9,435aa) | g.12:86199336G>C,c.452C>G,p.T151S |
| RASSF9(NM_005447,Ras association (RalGDS/AF-6) domain family (N-terminal) member 9,435aa) | g.12:86199292G>A,c.496C>T,p.R166W |
| RASSF9(NM_005447,Ras association (RalGDS/AF-6) domain family (N-terminal) member 9,435aa) | g.12:86199247C>T,c.541G>A,p.D181N |
| RASSF9(NM_005447,Ras association (RalGDS/AF-6) domain family (N-terminal) member 9,435aa) | g.12:86198935C>T,c.853G>A,p.A285T |
| RASSF9(NM_005447,Ras association (RalGDS/AF-6) domain family (N-terminal) member 9,435aa) | g.12:86198827C>T,c.961G>A,p.D321N |
| RASSF9(NM_005447,Ras association (RalGDS/AF-6) domain family (N-terminal) member 9,435aa) | g.12:86198814C>T,c.974G>A,p.S325N |
| RASSF8(NM_001164746,Ras association (RalGDS/AF-6) domain family (N-terminal) member 8,419aa) | g.12:26218163G>A,c.836G>A,p.R279Q |
| RASSF8(NM_001164746,Ras association (RalGDS/AF-6) domain family (N-terminal) member 8,419aa) | g.12:26217950G>A,c.623G>A,p.R208H |