| 基因名 | 突变 |
|---|---|
| CYP27C1(NM_001001665,cytochrome P450, family 27, subfamily C, polypeptide 1,372aa) | g.2:127961026A>G,c.100T>C,p.Y34H |
| CYP27C1(NM_001001665,cytochrome P450, family 27, subfamily C, polypeptide 1,372aa) | g.2:127953007C>A,c.623G>T,p.R208L |
| CYP27C1(NM_001001665,cytochrome P450, family 27, subfamily C, polypeptide 1,372aa) | g.2:127944923T>C,c.1043A>G,p.N348S |
| CYP27B1(NM_000785,cytochrome P450, family 27, subfamily B, polypeptide 1,508aa) | g.12:58159173C>G,c.496G>C,p.V166L |
| CYP27B1(NM_000785,cytochrome P450, family 27, subfamily B, polypeptide 1,508aa) | g.12:58159169C>G,c.500G>C,p.R167P |
| CYP27B1(NM_000785,cytochrome P450, family 27, subfamily B, polypeptide 1,508aa) | g.12:58159167G>A,c.502C>T,p.R168C |
| CYP27B1(NM_000785,cytochrome P450, family 27, subfamily B, polypeptide 1,508aa) | g.12:58159128C>A,c.541G>T,p.A181S |
| CYP27B1(NM_000785,cytochrome P450, family 27, subfamily B, polypeptide 1,508aa) | g.12:58158958C>G,c.626G>C,p.C209S |
| CYP27B1(NM_000785,cytochrome P450, family 27, subfamily B, polypeptide 1,508aa) | g.12:58158597C>G,c.903G>C,p.E301D |
| CYP27B1(NM_000785,cytochrome P450, family 27, subfamily B, polypeptide 1,508aa) | g.12:58158288G>A,c.1009C>T,p.P337S |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219679671C>T,c.1514C>T,p.T505M |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219679475G>T,c.1471G>T,p.A491S |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219679424C>T,c.1420C>T,p.R474W |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219679419G>C,c.1415G>C,p.G472A |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219679302G>A,c.1298G>A,p.R433Q |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219678877C>T,c.1151C>T,p.P384L |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219678840G>A,c.1114G>A,p.G372R |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219678754C>T,c.1028C>T,p.T343M |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219677818C>T,c.1016C>T,p.T339M |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219677301C>T,c.673C>T,p.R225C |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219677106C>T,c.608C>T,p.S203L |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219677076G>A,c.578G>A,p.R193Q |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219677022C>T,c.524C>T,p.T175M |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219677004C>T,c.506C>T,p.A169V |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219674423C>T,c.379C>T,p.R127W |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219674399C>T,c.355C>T,p.R119W |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219674300G>A,c.256G>A,p.V86M |
| CYP27A1(NM_000784,cytochrome P450, family 27, subfamily A, polypeptide 1,531aa) | g.2:219647120T>A,c.215T>A,p.L72Q |