| 基因名 | 突变 |
|---|---|
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687284C>T,c.2243G>A,p.R748Q |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687225A>G,c.2302T>C,p.X768Q |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11596690G>A,c.4126G>A,p.V1376M |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11595690C>A,c.3805C>A,p.H1269N |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11594528G>A,c.3466G>A,p.E1156K |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11589856G>A,c.2942G>A,p.R981H |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11589641del,c.2827del,p.943fs |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11585308C>T,c.2552C>T,p.A851V |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11579845C>T,c.2108C>T,p.T703M |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11579812T>A,c.2075T>A,p.V692E |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11579504G>C,c.1982G>C,p.G661A |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11579470G>A,c.1948G>A,p.A650T |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11576094G>A,c.1625G>A,p.R542H |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11561795C>T,c.746C>T,p.A249V |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11561600G>T,c.551G>T,p.G184V |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11561593G>A,c.544G>A,p.G182S |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11561546G>A,c.497G>A,p.R166Q |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11561200C>G,c.151C>G,p.L51V |
| PTCHD2(NM_020780,patched domain containing 2,1392aa) | g.1:11561164G>A,c.115G>A,p.G39R |
| PTCHD1(NM_173495,patched domain containing 1,888aa) | g.X:23411052G>A,c.1417G>A,p.E473K |
| PTCHD1(NM_173495,patched domain containing 1,888aa) | g.X:23397932_23397933insG,c.576_577insG,p.192fs |
| PTCHD1(NM_173495,patched domain containing 1,888aa) | g.X:23353209C>T,c.217C>T,p.L73F |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45307604A>C,c.180T>G,p.F60L |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45297968A>G,c.311T>C,p.L104P |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45296598C>G,c.735G>C,p.Q245H |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45296545C>T,c.788G>A,p.S263N |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45295296C>T,c.1073G>A,p.R358H |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45295178C>T,c.1111G>A,p.A371T |