| Genename | Variants |
|---|---|
| DYDC2(NM_032372,DPY30 domain containing 2,177aa) | g.10:82122269G>T,c.70G>T,p.V24F |
| DYDC1(NM_138812,DPY30 domain containing 1,177aa) | g.10:82112285G>A,c.73C>T,p.R25C |
| DYDC1(NM_138812,DPY30 domain containing 1,177aa) | g.10:82102070del,c.297del,p.99fs |
| DYDC1(NM_138812,DPY30 domain containing 1,177aa) | g.10:82098881A>T,c.371T>A,p.V124D |
| DVL3(NM_004423,dishevelled segment polarity protein 3,716aa) | g.3:183885832A>G,c.1477A>G,p.I493V |
| DVL3(NM_004423,dishevelled segment polarity protein 3,716aa) | g.3:183882984G>A,c.683G>A,p.R228Q |
| DVL3(NM_004423,dishevelled segment polarity protein 3,716aa) | g.3:183882161G>A,c.338G>A,p.R113Q |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7133682G>A,c.332C>T,p.A111V |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7133425C>T,c.460G>A,p.E154K |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7133212C>T,c.571G>A,p.G191R |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7131055C>T,c.1150G>A,p.A384T |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7131010T>C,c.1195A>G,p.M399V |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7129898G>A,c.1604C>T,p.T535I |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7129797G>A,c.1705C>T,p.H569Y |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7129501G>A,c.1894C>T,p.R632W |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7129498G>A,c.1897C>T,p.R633W |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7129497C>T,c.1898G>A,p.R633Q |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7129429G>A,c.1966C>T,p.P656S |
| DVL2(NM_004422,dishevelled segment polarity protein 2,736aa) | g.17:7129414G>A,c.1981C>T,p.H661Y |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1277469G>A,c.430C>T,p.R144W |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1277442G>A,c.457C>T,p.R153C |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1277183C>T,c.469G>A,p.A157T |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1277179C>T,c.473G>A,p.R158Q |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1277091C>G,c.561G>C,p.E187D |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1275804G>C,c.685C>G,p.R229G |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1275648C>T,c.748G>A,p.V250I |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1275509C>T,c.818G>A,p.R273H |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1274790C>T,c.1084G>A,p.A362T |