| Genename | Variants |
|---|---|
| PTCHD4(NM_207499,patched domain containing 4,311aa) | g.6:47976501C>T,c.776G>A,p.R259H |
| PTCHD4(NM_207499,patched domain containing 4,311aa) | g.6:47869671C>G,c.908G>C,p.G303A |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702804T>C,c.376A>G,p.T126A |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702725A>G,c.455T>C,p.L152P |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702624G>T,c.556C>A,p.Q186K |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702509G>C,c.671C>G,p.A224G |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702350G>A,c.830C>T,p.T277M |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702338C>T,c.842G>A,p.S281N |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702321C>T,c.859G>A,p.A287T |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702309C>T,c.871G>A,p.G291S |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702263del,c.917del,p.306fs |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702262_27702263del,c.917_918del,p.306fs |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702257del,c.923del,p.308fs |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702256_27702257insC,c.923_924insG,p.308fs |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27702174C>T,c.1006G>A,p.D336N |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27700777A>G,c.1171T>C,p.Y391H |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27692279A>G,c.1219T>C,p.C407R |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27692279A>C,c.1219T>G,p.C407G |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27692213C>T,c.1285G>A,p.G429S |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27688109T>C,c.1418A>G,p.D473G |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27688101G>A,c.1426C>T,p.R476X |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27688089A>G,c.1438T>C,p.S480P |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687965A>G,c.1562T>C,p.M521T |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687775T>C,c.1752A>G,p.I584M |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687760del,c.1767del,p.589fs |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687638C>T,c.1889G>A,p.R630Q |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687534_27687535insT,c.1992_1993insA,p.664fs |
| PTCHD3(NM_001034842,patched domain containing 3,767aa) | g.10:27687492A>T,c.2035T>A,p.C679S |