| 基因名 | 突变 |
|---|---|
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17519742C>G,c.2457G>C,p.E819D |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17517220A>C,c.2551T>G,p.S851A |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17517160C>T,c.2611G>A,p.A871T |
| USF1(NM_007122,upstream transcription factor 1,310aa) | g.1:161012659C>G,c.22G>C,p.A8P |
| USF1(NM_007122,upstream transcription factor 1,310aa) | g.1:161011147C>T,c.527G>A,p.R176H |
| USE1(NM_018467,unconventional SNARE in the ER 1 homolog (S. cerevisiae),259aa) | g.19:17330504G>A,c.662G>A,p.R221H |
| USE1(NM_018467,unconventional SNARE in the ER 1 homolog (S. cerevisiae),259aa) | g.19:17330172G>C,c.573G>C,p.Q191H |
| USE1(NM_018467,unconventional SNARE in the ER 1 homolog (S. cerevisiae),259aa) | g.19:17330060T>C,c.461T>C,p.L154S |
| USB1(NM_001204911,U6 snRNA biogenesis 1,186aa) | g.16:58043911G>A,c.344G>A,p.R115K |
| USB1(NM_001204911,U6 snRNA biogenesis 1,186aa) | g.16:58035407T>C,c.20T>C,p.V7A |
| UROS(NM_000375,uroporphyrinogen III synthase,265aa) | g.10:127500795T>C,c.307A>G,p.T103A |
| UROS(NM_000375,uroporphyrinogen III synthase,265aa) | g.10:127496038T>A,c.338A>T,p.D113V |
| UROS(NM_000375,uroporphyrinogen III synthase,265aa) | g.10:127484740T>C,c.493A>G,p.I165V |
| UROS(NM_000375,uroporphyrinogen III synthase,265aa) | g.10:127484721A>C,c.512T>G,p.V171G |
| UROS(NM_000375,uroporphyrinogen III synthase,265aa) | g.10:127477535C>T,c.700G>A,p.A234T |
| UROS(NM_000375,uroporphyrinogen III synthase,265aa) | g.10:127477495G>A,c.740C>T,p.T247M |
| UROD(NM_000374,uroporphyrinogen decarboxylase,367aa) | g.1:45481120G>A,c.1054G>A,p.A352T |
| UROD(NM_000374,uroporphyrinogen decarboxylase,367aa) | g.1:45480232T>A,c.758T>A,p.L253Q |
| UROD(NM_000374,uroporphyrinogen decarboxylase,367aa) | g.1:45479390T>A,c.401T>A,p.V134E |
| UROD(NM_000374,uroporphyrinogen decarboxylase,367aa) | g.1:45479389G>C,c.400G>C,p.V134L |
| UROD(NM_000374,uroporphyrinogen decarboxylase,367aa) | g.1:45479387A>G,c.398A>G,p.Y133C |
| UROD(NM_000374,uroporphyrinogen decarboxylase,367aa) | g.1:45479353C>T,c.364C>T,p.R122W |
| UROD(NM_000374,uroporphyrinogen decarboxylase,367aa) | g.1:45478832A>G,c.158A>G,p.Q53R |
| UROC1(NM_001165974,urocanate hydratase 1,736aa) | g.3:126236523G>A,c.40C>T,p.R14W |
| UROC1(NM_001165974,urocanate hydratase 1,736aa) | g.3:126229571C>A,c.193G>T,p.A65S |
| UROC1(NM_001165974,urocanate hydratase 1,736aa) | g.3:126229564T>C,c.200A>G,p.E67G |
| UROC1(NM_001165974,urocanate hydratase 1,736aa) | g.3:126229555A>G,c.209T>C,p.L70P |
| UROC1(NM_001165974,urocanate hydratase 1,736aa) | g.3:126229531C>G,c.233G>C,p.R78P |