| 基因名 | 突变 |
|---|---|
| UBA6(NM_018227,ubiquitin-like modifier activating enzyme 6,1052aa) | g.4:68490785C>T,c.2639G>A,p.R880H |
| UBA6(NM_018227,ubiquitin-like modifier activating enzyme 6,1052aa) | g.4:68488583C>T,c.2989G>A,p.V997I |
| UBA6(NM_018227,ubiquitin-like modifier activating enzyme 6,1052aa) | g.4:68484837C>A,c.3037G>T,p.V1013L |
| UBA5(NM_024818,ubiquitin-like modifier activating enzyme 5,404aa) | g.3:132389076A>G,c.442A>G,p.N148D |
| UBA3(NM_003968,ubiquitin-like modifier activating enzyme 3,463aa) | g.3:69105047A>T,c.1258T>A,p.S420T |
| UBA2(NM_005499,ubiquitin-like modifier activating enzyme 2,640aa) | g.19:34959998A>G,c.1795A>G,p.N599D |
| UBA2(NM_005499,ubiquitin-like modifier activating enzyme 2,640aa) | g.19:34959950G>C,c.1747G>C,p.E583Q |
| UBA2(NM_005499,ubiquitin-like modifier activating enzyme 2,640aa) | g.19:34957911C>T,c.1733C>T,p.T578I |
| UBA2(NM_005499,ubiquitin-like modifier activating enzyme 2,640aa) | g.19:34957830C>T,c.1652C>T,p.P551L |
| UBA2(NM_005499,ubiquitin-like modifier activating enzyme 2,640aa) | g.19:34924281C>G,c.322C>G,p.Q108E |
| UBA1(NM_003334,ubiquitin-like modifier activating enzyme 1,1058aa) | g.X:47074225G>A,c.3074G>A,p.R1025Q |
| UBA1(NM_003334,ubiquitin-like modifier activating enzyme 1,1058aa) | g.X:47065473C>G,c.1702C>G,p.L568V |
| UBA1(NM_003334,ubiquitin-like modifier activating enzyme 1,1058aa) | g.X:47062534G>A,c.1340G>A,p.R447H |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162569107T>A,c.1472T>A,p.I491N |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162569070A>G,c.1435A>G,p.S479G |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162560282C>T,c.1339C>T,p.R447C |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162560250C>T,c.1307C>T,p.A436V |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162557419A>G,c.989A>G,p.N330S |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162557377G>A,c.947G>A,p.S316N |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162551137A>G,c.722A>G,p.Q241R |
| UAP1(NM_003115,UDP-N-acteylglucosamine pyrophosphorylase 1,505aa) | g.1:162535958T>C,c.100T>C,p.Y34H |
| UAP1L1(NM_207309,UDP-N-acteylglucosamine pyrophosphorylase 1-like 1,507aa) | g.9:139976458C>T,c.1373C>T,p.P458L |
| UAP1L1(NM_207309,UDP-N-acteylglucosamine pyrophosphorylase 1-like 1,507aa) | g.9:139974488G>A,c.1072G>A,p.V358M |
| UAP1L1(NM_207309,UDP-N-acteylglucosamine pyrophosphorylase 1-like 1,507aa) | g.9:139973820C>T,c.956C>T,p.A319V |
| UAP1L1(NM_207309,UDP-N-acteylglucosamine pyrophosphorylase 1-like 1,507aa) | g.9:139973774G>A,c.910G>A,p.V304M |
| UAP1L1(NM_207309,UDP-N-acteylglucosamine pyrophosphorylase 1-like 1,507aa) | g.9:139973569G>A,c.812G>A,p.C271Y |
| UAP1L1(NM_207309,UDP-N-acteylglucosamine pyrophosphorylase 1-like 1,507aa) | g.9:139972219G>T,c.235G>T,p.V79L |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70991990C>T,c.49G>A,p.D17N |