| 基因名 | 突变 |
|---|---|
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100119096G>A,c.791G>A,p.R264H |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100118894G>A,c.589G>A,p.V197M |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100118745G>A,c.440G>A,p.R147H |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100118673G>A,c.368G>A,p.R123Q |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100118622C>T,c.317C>T,p.T106M |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100118571C>T,c.266C>T,p.P89L |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210796973A>G,c.1349A>G,p.N450S |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210796970G>A,c.1346G>A,p.G449D |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210796934C>T,c.1310C>T,p.S437L |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210761373A>G,c.1175A>G,p.N392S |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210761367C>T,c.1169C>T,p.A390V |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210637989G>A,c.997G>A,p.G333R |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210637927G>A,c.935G>A,p.R312H |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210637924T>C,c.932T>C,p.M311T |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210637858C>T,c.866C>T,p.A289V |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210577901T>C,c.562T>C,p.C188R |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210577884G>A,c.545G>A,p.S182N |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210560816C>T,c.164C>T,p.A55V |
| HHAT(NM_018194,hedgehog acyltransferase,493aa) | g.1:210536249G>A,c.145G>A,p.G49R |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42742237G>A,c.82C>T,p.R28W |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42740540G>A,c.272C>T,p.T91M |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42739785C>A,c.542G>T,p.S181I |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42739027C>T,c.838G>A,p.A280T |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42738533G>T,c.970C>A,p.P324T |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42738342C>A,c.1038G>T,p.W346C |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42735150T>C,c.1207A>G,p.M403V |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42734587G>C,c.1372C>G,p.R458G |
| HHATL(NM_020707,hedgehog acyltransferase-like,504aa) | g.3:42734586C>T,c.1373G>A,p.R458Q |