| 基因名 | 突变 |
|---|---|
| HPD(NM_001171993,4-hydroxyphenylpyruvate dioxygenase,354aa) | g.12:122277904G>C,c.888C>G,p.I296M |
| HPD(NM_001171993,4-hydroxyphenylpyruvate dioxygenase,354aa) | g.12:122277891C>A,c.901G>T,p.V301L |
| HPDL(NM_032756,4-hydroxyphenylpyruvate dioxygenase-like,371aa) | g.1:45793815C>T,c.995C>T,p.T332I |
| HPDL(NM_032756,4-hydroxyphenylpyruvate dioxygenase-like,371aa) | g.1:45793123C>G,c.303C>G,p.S101R |
| HPDL(NM_032756,4-hydroxyphenylpyruvate dioxygenase-like,371aa) | g.1:45792954T>A,c.134T>A,p.L45Q |
| HPDL(NM_032756,4-hydroxyphenylpyruvate dioxygenase-like,371aa) | g.1:45792900G>A,c.80G>A,p.R27H |
| HPCAL4(NM_016257,hippocalcin like 4,191aa) | g.1:40148335C>T,c.449G>A,p.R150H |
| HPCAL4(NM_016257,hippocalcin like 4,191aa) | g.1:40148300T>C,c.484A>G,p.K162E |
| HP1BP3(NM_016287,heterochromatin protein 1, binding protein 3,553aa) | g.1:21099964T>C,c.490A>G,p.I164V |
| HP1BP3(NM_016287,heterochromatin protein 1, binding protein 3,553aa) | g.1:21071421G>A,c.1531C>T,p.P511S |
| HP1BP3(NM_016287,heterochromatin protein 1, binding protein 3,553aa) | g.1:21071406T>G,c.1546A>C,p.I516L |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176988293_176988294insGCA,c.797_798insGCA,p.266ins1aa |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176988290C>A,c.794C>A,p.P265Q |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176988290_176988291insGCA,c.794_795insGCA,p.265ins1aa |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176988080T>A,c.584T>A,p.V195E |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176988059C>A,c.563C>A,p.S188Y |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176987959G>T,c.463G>T,p.G155W |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176987794G>A,c.298G>A,p.V100I |
| HOXD9(NM_014213,homeobox D9,352aa) | g.2:176987516G>C,c.20G>C,p.G7A |
| HOXD8(NM_019558,homeobox D8,290aa) | g.2:176996336A>T,c.869A>T,p.N290I |
| HOXD4(NM_014621,homeobox D4,255aa) | g.2:177017345A>G,c.443A>G,p.N148S |
| HOXD4(NM_014621,homeobox D4,255aa) | g.2:177017340C>A,c.438C>A,p.N146K |
| HOXD4(NM_014621,homeobox D4,255aa) | g.2:177016728T>C,c.367T>C,p.S123P |
| HOXD3(NM_006898,homeobox D3,432aa) | g.2:177036574G>T,c.871G>T,p.G291C |
| HOXD1(NM_024501,homeobox D1,328aa) | g.2:177054769G>A,c.886G>A,p.A296T |
| HOXD1(NM_024501,homeobox D1,328aa) | g.2:177054692A>G,c.809A>G,p.D270G |
| HOXD1(NM_024501,homeobox D1,328aa) | g.2:177054181G>C,c.652G>C,p.G218R |
| HOXD13(NM_000523,homeobox D13,343aa) | g.2:176958118A>G,c.500A>G,p.Y167C |