| 基因名 | 突变 |
|---|---|
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:944649T>G,c.524A>C,p.H175P |
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:941071G>A,c.634C>T,p.R212C |
| RSPO2(NM_178565,R-spondin 2,243aa) | g.8:108972961C>T,c.368G>A,p.R123H |
| RSPO2(NM_178565,R-spondin 2,243aa) | g.8:108972931G>A,c.398C>T,p.A133V |
| RSPO2(NM_178565,R-spondin 2,243aa) | g.8:108970470C>T,c.454G>A,p.E152K |
| RSPO2(NM_178565,R-spondin 2,243aa) | g.8:108970367A>G,c.557T>C,p.L186P |
| RSPO1(NM_001038633,R-spondin 1,263aa) | g.1:38079517T>G,c.484A>C,p.K162Q |
| RSPO1(NM_001038633,R-spondin 1,263aa) | g.1:38079448C>A,c.553G>T,p.G185W |
| RSPO1(NM_001038633,R-spondin 1,263aa) | g.1:38078563C>T,c.656G>A,p.R219Q |
| RSPO1(NM_001038633,R-spondin 1,263aa) | g.1:38078561G>A,c.658C>T,p.R220W |
| RSPO1(NM_001038633,R-spondin 1,263aa) | g.1:38077351T>G,c.*1007-2A>C,p.3'UTRAcceptor |
| RSPO1(NM_001038633,R-spondin 1,263aa) | g.1:38077350T>A,c.*1007-1A>T,p.3'UTRAcceptor |
| RSPO1(NM_001038633,R-spondin 1,263aa) | g.1:38077350_38077420del,c.*1007-1del,p.3'UTRAcceptordel |
| RSPH9(NM_001193341,radial spoke head 9 homolog (Chlamydomonas),306aa) | g.6:43638674C>T,c.871C>T,p.L291F |
| RSPH9(NM_001193341,radial spoke head 9 homolog (Chlamydomonas),306aa) | g.6:43638636G>A,c.833G>A,p.R278H |
| RSPH9(NM_001193341,radial spoke head 9 homolog (Chlamydomonas),306aa) | g.6:43623417G>A,c.467G>A,p.R156Q |
| RSPH9(NM_001193341,radial spoke head 9 homolog (Chlamydomonas),306aa) | g.6:43623416C>T,c.466C>T,p.R156W |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46318286G>A,c.149C>T,p.A50V |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46308198T>A,c.965A>T,p.E322V |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46307998C>T,c.1165G>A,p.E389K |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46307769G>A,c.1394C>T,p.T465M |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46307742G>A,c.1421C>T,p.P474L |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46307619G>C,c.1544C>G,p.A515G |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46307592G>C,c.1571C>G,p.P524R |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46305507C>T,c.1669G>A,p.V557M |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46303792G>A,c.1828C>T,p.R610C |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46299329T>A,c.1952A>T,p.K651M |
| RSPH6A(NM_030785,radial spoke head 6 homolog A (Chlamydomonas),717aa) | g.19:46299162C>T,c.2119G>A,p.E707K |