| 基因名 | 突变 |
|---|---|
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70548297G>A,c.485C>T,p.T162I |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70546287C>T,c.593G>A,p.R198H |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70534950C>T,c.1106G>A,p.R369H |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70534933G>A,c.1123C>T,p.R375C |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70516072A>G,c.1927T>C,p.F643L |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70516068T>C,c.1931A>G,p.N644S |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70515744C>T,c.2029G>A,p.D677N |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70515043G>T,c.2240C>A,p.T747N |
| COG4(NM_015386,component of oligomeric golgi complex 4,789aa) | g.16:70515032C>T,c.2251G>A,p.D751N |
| COG3(NM_031431,component of oligomeric golgi complex 3,828aa) | g.13:46108853T>C,c.2474T>C,p.L825S |
| COG3(NM_031431,component of oligomeric golgi complex 3,828aa) | g.13:46103935A>G,c.2240A>G,p.N747S |
| COG3(NM_031431,component of oligomeric golgi complex 3,828aa) | g.13:46099171C>T,c.2215C>T,p.P739S |
| COG3(NM_031431,component of oligomeric golgi complex 3,828aa) | g.13:46099129A>G,c.2173A>G,p.M725V |
| COG3(NM_031431,component of oligomeric golgi complex 3,828aa) | g.13:46083839C>T,c.1607C>T,p.S536F |
| COG3(NM_031431,component of oligomeric golgi complex 3,828aa) | g.13:46055366C>T,c.551C>T,p.S184L |
| COG3(NM_031431,component of oligomeric golgi complex 3,828aa) | g.13:46054306A>G,c.430A>G,p.I144V |
| COG2(NM_007357,component of oligomeric golgi complex 2,738aa) | g.1:230824279G>A,c.1765G>A,p.V589I |
| COG2(NM_007357,component of oligomeric golgi complex 2,738aa) | g.1:230822832C>G,c.1532C>G,p.T511S |
| COG2(NM_007357,component of oligomeric golgi complex 2,738aa) | g.1:230814668A>G,c.1036A>G,p.I346V |
| COG2(NM_007357,component of oligomeric golgi complex 2,738aa) | g.1:230810756T>A,c.912T>A,p.N304K |
| COG2(NM_007357,component of oligomeric golgi complex 2,738aa) | g.1:230807350G>A,c.863G>A,p.R288H |
| COG2(NM_007357,component of oligomeric golgi complex 2,738aa) | g.1:230807296A>G,c.809A>G,p.N270S |
| COG1(NM_018714,component of oligomeric golgi complex 1,980aa) | g.17:71201723G>A,c.2414G>A,p.R805Q |
| COG1(NM_018714,component of oligomeric golgi complex 1,980aa) | g.17:71199915G>A,c.2365G>A,p.E789K |
| COG1(NM_018714,component of oligomeric golgi complex 1,980aa) | g.17:71197678G>A,c.1712G>A,p.R571Q |
| COG1(NM_018714,component of oligomeric golgi complex 1,980aa) | g.17:71197323G>C,c.1357G>C,p.E453Q |
| COG1(NM_018714,component of oligomeric golgi complex 1,980aa) | g.17:71196809A>G,c.1175A>G,p.N392S |
| COG1(NM_018714,component of oligomeric golgi complex 1,980aa) | g.17:71196766G>C,c.1132G>C,p.G378R |